diff --git a/.github/workflows/checks.yaml b/.github/workflows/checks.yaml new file mode 100644 index 0000000..5f2cbe1 --- /dev/null +++ b/.github/workflows/checks.yaml @@ -0,0 +1,61 @@ +name: checks +on: [push, pull_request] +jobs: + test: + name: test build py${{ matrix.python-version }} + runs-on: ubuntu-latest + strategy: + matrix: + python-version: ["3.10", "3.11", "3.12", "3.13"] + steps: + - uses: actions/checkout@v4 + + - name: Set up Python + uses: actions/setup-python@v5 + with: + python-version: "${{ matrix.python-version }}" + + - name: Install dependencies + run: | + python3 -m pip install ".[tests]" + + # TODO -- build CI-ready unit tests + + lint: + name: lint + runs-on: ubuntu-latest + steps: + - uses: actions/checkout@v4 + + - name: Setup Python + uses: actions/setup-python@v5 + with: + python-version: "3.11" + + - name: Install dependencies + run: python3 -m pip install ".[dev]" + + - name: Check style + run: python3 -m flake8 src tests + + precommit_hooks: + runs-on: ubuntu-latest + strategy: + matrix: + cmd: + - "check-ast" + - "debug-statements" + - "end-of-file-fixer" + - "trailing-whitespace" + - "mixed-line-ending" + steps: + - uses: actions/checkout@v4 + + - name: Set up Python 3.12 + uses: actions/setup-python@v5 + with: + python-version: 3.12 + + - uses: pre-commit/action@v3.0.1 + with: + extra_args: ${{ matrix.cmd }} --all-files diff --git a/.github/workflows/release.yaml b/.github/workflows/release.yaml new file mode 100644 index 0000000..355a0e8 --- /dev/null +++ b/.github/workflows/release.yaml @@ -0,0 +1,50 @@ +# https://packaging.python.org/en/latest/guides/publishing-package-distribution-releases-using-github-actions-ci-cd-workflows/ +name: Publish Python distribution to PyPI + +on: + release: + types: [created] + +jobs: + build: + name: Build distribution + runs-on: ubuntu-latest + + steps: + - uses: actions/checkout@v4 + - name: Set up Python + uses: actions/setup-python@v5 + with: + python-version: "3.x" + - name: Install pypa/build + run: >- + python3 -m + pip install + build + --user + - name: Build a binary wheel and a source tarball + run: python3 -m build + - name: Store the distribution packages + uses: actions/upload-artifact@v4 + with: + name: python-package-distributions + path: dist/ + publish-to-pypi: + name: >- + Publish Python distribution to PyPI + needs: + - build + runs-on: ubuntu-latest + environment: + name: pypi + url: https://pypi.org/p/vrs_anvil_toolkit + permissions: + id-token: write # IMPORTANT: mandatory for trusted publishing + steps: + - name: Download all the dists + uses: actions/download-artifact@v4 + with: + name: python-package-distributions + path: dist/ + - name: Publish distribution to PyPI + uses: pypa/gh-action-pypi-publish@release/v1 diff --git a/.pre-commit-config.yaml b/.pre-commit-config.yaml index db766c0..c5dd728 100644 --- a/.pre-commit-config.yaml +++ b/.pre-commit-config.yaml @@ -1,7 +1,7 @@ repos: - repo: https://github.com/pre-commit/pre-commit-hooks - rev: v4.4.0 + rev: v5.0.0 hooks: - id: debug-statements #Check for debugger imports and breakpoint() in python files - id: check-ast #Simply check whether files parse as valid python @@ -16,7 +16,7 @@ repos: - id: end-of-file-fixer #Makes sure files end in a newline and only a newline - id: trailing-whitespace - id: mixed-line-ending - + args: [ --fix=lf ] - repo: local hooks: - id: run_tests @@ -33,3 +33,4 @@ repos: # language: system # types: [python] # exclude: ^venv/ ^.git/ ^.vscode/ ^.DS_Store +minimum_pre_commit_version: 4.0.1 diff --git a/pyproject.toml b/pyproject.toml new file mode 100644 index 0000000..5ce8b11 --- /dev/null +++ b/pyproject.toml @@ -0,0 +1,79 @@ +[project] +name = "vrs_anvil_toolkit" +authors = [ + {"name" = "GKS-AnVIL"} +] +readme = "README.md" +classifiers = [ + "Development Status :: 3 - Alpha", + "Intended Audience :: Science/Research", + "Intended Audience :: Developers", + "Topic :: Scientific/Engineering :: Bio-Informatics", + "License :: OSI Approved :: MIT License", + "Programming Language :: Python :: 3", + "Programming Language :: Python :: 3.10", + "Programming Language :: Python :: 3.11", + "Programming Language :: Python :: 3.12", + "Programming Language :: Python :: 3.13", +] +requires-python = ">=3.10" +description = "Useful tools and methods for applying GA4GH GKS and VRS models on the NHGRI AnVIL platform." +license = {file = "LICENSE.md"} +dependencies = [ + "ga4gh.vrs[extras]==2.0.0a13", + "diskcache", + "biocommons.seqrepo", + "glom", + "click", + "pyyaml", + "google", + "requests", + "boto3", + "tqdm", + "google-cloud-storage", + "psutil", + # for CAF generation: + "firecloud", + "ga4gh.va_spec~=0.2.0a0", + "pandas", + "vrsix==0.1.1", +] +dynamic = ["version"] + +[project.optional-dependencies] +tests = [ + "pytest", +] +dev = [ + "flake8", + "black", + "pre-commit>=4.0.1", +] + +[project.urls] +Homepage = "https://github.com/gks-anvil/vrs_anvil_toolkit" +Documentation = "https://github.com/gks-anvil/vrs_anvil_toolkit" +Changelog = "https://github.com/gks-anvil/vrs_anvil_toolkit/releases" +Source = "https://github.com/gks-anvil/vrs_anvil_toolkit" +"Bug Tracker" = "https://github.com/gks-anvil/vrs_anvil_toolkit/issues" + +[project.scripts] +vrs_bulk = "vrs_anvil.cli:cli" + +[build-system] +requires = ["setuptools>=64", "setuptools_scm>=8"] +build-backend = "setuptools.build_meta" + +[tool.setuptools] +include-package-data = true + +[tool.setuptools.packages.find] +where = ["src"] + +[tool.setuptools.package-data] +vrs_anvil_toolkit = ["**/*.yaml"] + +[tool.setuptools_scm] + +[tool.pytest.ini_options] +filterwarnings = ["ignore::DeprecationWarning"] diff --git a/pytest.ini b/pytest.ini deleted file mode 100644 index 0c3916d..0000000 --- a/pytest.ini +++ /dev/null @@ -1,8 +0,0 @@ -# pytest.ini -[pytest] -# seqrepo has DeprecationWarning: The default timestamp converter is deprecated as of Python 3.12; see the sqlite3 documentation for suggested replacement recipes -# reported here https://github.com/biocommons/biocommons.seqrepo/issues/127 -# yoyo has DeprecationWarning: pkg_resources is deprecated as an API. See https://setuptools.pypa.io/en/latest/pkg_resources.html -# reported here https://todo.sr.ht/~olly/yoyo/96 -filterwarnings = - ignore::DeprecationWarning diff --git a/requirements-dev.txt b/requirements-dev.txt deleted file mode 100644 index 6c8a413..0000000 --- a/requirements-dev.txt +++ /dev/null @@ -1,9 +0,0 @@ -pytest -flake8 -pre-commit -black -# pypi -twine -# packaging -wheel -setuptools diff --git a/requirements.txt b/requirements.txt deleted file mode 100644 index 2880109..0000000 --- a/requirements.txt +++ /dev/null @@ -1,19 +0,0 @@ -ga4gh.vrs[extras]==2.0.0a13 -diskcache -biocommons.seqrepo -glom -click -pyyaml -google -requests -boto3 -tqdm -google-cloud-storage -psutil -setuptools - -# for cohort allele frequency generation -firecloud -ga4gh.va_spec~=0.2.0a0 -pandas -vrsix==0.1.1 diff --git a/setup.py b/setup.py deleted file mode 100644 index 510c932..0000000 --- a/setup.py +++ /dev/null @@ -1,145 +0,0 @@ -"""A setuptools based setup module. -See: -https://packaging.python.org/guides/distributing-packages-using-setuptools/ -""" - -from os import path - -# Always prefer setuptools over distutils -from setuptools import setup, find_packages - -here = path.abspath(path.dirname(__file__)) - -# Get the long description from the README file -with open(path.join(here, 'README.md'), encoding='utf-8') as f: - long_description = f.read() - -# Get the requirements from the requirements.txt file -with open(path.join(here, "requirements.txt"), encoding='utf-8') as f: - requirements = [l_ for l_ in f.read().splitlines() if - not l_.startswith('#') and len(l_) > 0 and not l_.startswith('http')] - -with open(path.join(here, "requirements.txt"), encoding='utf-8') as f: - dependency_links = [l_ for l_ in f.read().splitlines() if l_.startswith('http')] - -# Arguments marked as "Required" below must be included for upload to PyPI. -# Fields marked as "Optional" may be commented out. - -setup( - # This is the name of your project. The first time you publish this - # package, this name will be registered for you. It will determine how - # users can install this project, e.g.: - # - # $ pip install vrs_anvil_toolkit - # - # And where it will live on PyPI: https://pypi.org/project/vrs_anvil/ - # - # There are some restrictions on what makes a valid project name - # specification here: - # https://packaging.python.org/specifications/core-metadata/#name - name='vrs_anvil_toolkit', # Required - - # Versions should comply with PEP 440: - # https://packaging.python.org/en/latest/single_source_version.html - version='0.3.0', # Required - - # This is a one-line description or tagline of what your project does. This - # corresponds to the "Summary" metadata field: - # https://packaging.python.org/specifications/core-metadata/#summary - description='Commons utilities', - # Optional - - # This field corresponds to the "Description" metadata field: - # https://packaging.python.org/specifications/core-metadata/#description-optional - long_description=long_description, # Optional - - # Denotes that our long_description is in Markdown - long_description_content_type='text/markdown', # Optional (see note above) - - # Project's main homepage. - url='https://github.com/gks-anvil/vrs_anvil_toolkit', # Optional - - # This should be your name or the name of the organization which owns the - # project. - author='Ellrott Lab', # Optional - - - # For a list of valid classifiers, see https://pypi.org/classifiers/ - classifiers=[ # Optional - # How mature is this project? Common values are - # 3 - Alpha - # 4 - Beta - # 5 - Production/Stable - 'Development Status :: 4 - Beta', - - 'Intended Audience :: Developers', - 'Topic :: Software Development :: Build Tools', - - 'License :: OSI Approved :: MIT License', - - # Specify the Python versions you support here. - 'Programming Language :: Python :: 3.10', - ], - - # This field adds keywords for your project which will appear on the - # project page. What does your project relate to? - # - # Note that this is a string of words separated by whitespace, not a list. - keywords='anvil terra bioinformatics', # Optional - - # You can just specify package directories manually here if your project is - # simple. Or you can use find_packages(). - - packages=find_packages(where="src"), # Required - - package_dir={"": "src"}, - - # Specify which Python versions you support. In contrast to the - # 'Programming Language' classifiers above, 'pip install' will check this - # and refuse to install the project if the version does not match. If you - # do not support Python 2, you can simplify this to '>=3.5' or similar, see - # https://packaging.python.org/guides/distributing-packages-using-setuptools/#python-requires - python_requires='>=3.10, <4', - - # This field lists other packages that your project depends on to run. - # Any package you put here will be installed by pip when your project is - # installed, so they must be valid existing projects. - # - # For an analysis of "install_requires" vs pip's requirements files see: - # https://packaging.python.org/en/latest/requirements.html - install_requires=requirements, - - # If there are data files included in your packages that need to be - # installed, specify them here. - # - package_data={ # Optional - '': ['*.yaml'], - }, - - # To provide executable scripts, use entry points in preference to the - # "scripts" keyword. Entry points provide cross-platform support and allow - # `pip` to create the appropriate form of executable for the target - # platform. - - entry_points={ - 'console_scripts': [ - 'vrs_bulk = vrs_anvil.cli:cli', - ], - }, - - include_package_data=True, - - # List additional URLs that are relevant to your project as a dict. - # - # This field corresponds to the "Project-URL" metadata fields: - # https://packaging.python.org/specifications/core-metadata/#project-url-multiple-use - # - # Examples listed include a pattern for specifying where the package tracks - # issues, where the source is hosted, where to say thanks to the package - # maintainers, and where to support the project financially. The key is - # what's used to render the link text on PyPI. - project_urls={ # Optional - 'Bug Reports': 'https://github.com/gks-anvil/vrs_anvil_toolkit/issues', - 'Source': 'https://github.com/gks-anvil/vrs_anvil_toolkit', - }, -) diff --git a/tests/fixtures/gnomAD_v4.0.0_ENSG00000012048_2024_03_04_18_33_26.csv b/tests/fixtures/gnomAD_v4.0.0_ENSG00000012048_2024_03_04_18_33_26.csv index 1c19814..aa0c0cb 100644 --- a/tests/fixtures/gnomAD_v4.0.0_ENSG00000012048_2024_03_04_18_33_26.csv +++ b/tests/fixtures/gnomAD_v4.0.0_ENSG00000012048_2024_03_04_18_33_26.csv @@ -1,5796 +1,5796 @@ -gnomAD ID,Chromosome,Position,rsIDs,Reference,Alternate,Source,Filters - exomes,Filters - genomes,Transcript,HGVS Consequence,Protein Consequence,Transcript Consequence,VEP Annotation,ClinVar Clinical Significance,ClinVar Variation ID,Flags,Allele Count,Allele Number,Allele Frequency,Homozygote Count,Hemizygote Count,GroupMax FAF group,GroupMax FAF frequency,cadd,revel_max,spliceai_ds_max,pangolin_largest_ds,phylop,sift_max,polyphen_max,Allele Count African/African American,Allele Number African/African American,Homozygote Count African/African American,Hemizygote Count African/African American,Allele Count Admixed American,Allele Number Admixed American,Homozygote Count Admixed American,Hemizygote Count Admixed American,Allele Count Ashkenazi Jewish,Allele Number Ashkenazi Jewish,Homozygote Count Ashkenazi Jewish,Hemizygote Count Ashkenazi Jewish,Allele Count East Asian,Allele Number East Asian,Homozygote Count East Asian,Hemizygote Count East Asian,Allele Count European (Finnish),Allele Number European (Finnish),Homozygote Count European (Finnish),Hemizygote Count European (Finnish),Allele Count Middle Eastern,Allele Number Middle Eastern,Homozygote Count Middle Eastern,Hemizygote Count Middle Eastern,Allele Count European (non-Finnish),Allele Number European (non-Finnish),Homozygote Count European (non-Finnish),Hemizygote Count European (non-Finnish),Allele Count Amish,Allele Number Amish,Homozygote Count Amish,Hemizygote Count Amish,Allele Count South Asian,Allele Number South Asian,Homozygote Count South Asian,Hemizygote Count South Asian,Allele Count Remaining,Allele Number Remaining,Homozygote Count Remaining,Hemizygote Count Remaining -17-43045606-C-G,17,43045606,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*72G>C,,c.*72G>C,3_prime_UTR_variant,,,,1,1444884,6.920970818418641e-7,0,0,,,2.51,,,0.0300,0.248,,,0,32996,0,0,0,44218,0,0,0,25974,0,0,1,39564,0,0,0,53278,0,0,0,5042,0,0,0,1098580,0,0,,,,,0,85490,0,0,0,59742,0,0 -17-43045609-G-GA,17,43045609,,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*68_*69insT,,c.*68_*69insT,3_prime_UTR_variant,,,,1,1448746,6.902521214898954e-7,0,0,,,5.64,,,0.0200,2.27,,,0,33066,0,0,0,44330,0,0,0,26008,0,0,0,39606,0,0,1,53310,0,0,0,5072,0,0,0,1101808,0,0,,,,,0,85656,0,0,0,59890,0,0 -17-43045609-G-T,17,43045609,rs2152454337,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*69C>A,,c.*69C>A,3_prime_UTR_variant,,,,1,1448744,6.902530743871933e-7,0,0,,,1.95,,,-0.0100,2.27,,,0,33066,0,0,0,44330,0,0,0,26008,0,0,0,39606,0,0,0,53310,0,0,0,5072,0,0,1,1101806,0,0,,,,,0,85656,0,0,0,59890,0,0 -17-43045610-G-GCTC,17,43045610,,G,GCTC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*67_*68insGAG,,c.*67_*68insGAG,3_prime_UTR_variant,,,,1,1450924,6.892159754749387e-7,0,0,,,5.55,,,0.0200,0.360,,,0,33126,0,0,0,44380,0,0,0,26026,0,0,0,39622,0,0,1,53320,0,0,0,5100,0,0,0,1103696,0,0,,,,,0,85714,0,0,0,59940,0,0 -17-43045611-C-T,17,43045611,rs754327493,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*67G>A,,c.*67G>A,3_prime_UTR_variant,,,,7,1453012,0.000004817578932589683,0,0,sas,0.00001588,4.78,,,0.0100,1.41,,,0,33182,0,0,0,44420,0,0,0,26034,0,0,0,39624,0,0,0,53338,0,0,0,5136,0,0,1,1105436,0,0,,,,,4,85824,0,0,2,60018,0,0 -17-43045613-T-A,17,43045613,rs1201063821,T,A,gnomAD 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Exomes,PASS,NA,ENST00000357654.9,c.*57_*58insGAG,,c.*57_*58insGAG,3_prime_UTR_variant,,,,1,1459908,6.849746696367168e-7,0,0,,,3.44,,,0.0200,0.343,,,0,33384,0,0,0,44576,0,0,0,26110,0,0,0,39682,0,0,1,53390,0,0,0,5400,0,0,0,1110998,0,0,,,,,0,86110,0,0,0,60258,0,0 -17-43045620-G-T,17,43045620,rs137892861,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*58C>A,,c.*58C>A,3_prime_UTR_variant,,,,4,1612108,0.0000024812233423567155,0,0,nfe,7.899999999999998e-7,3.58,,,0.0300,0.343,,,0,74836,0,0,0,59860,0,0,0,29578,0,0,0,44876,0,0,0,64010,0,0,0,5716,0,0,4,1179030,0,0,0,912,0,0,0,90942,0,0,0,62348,0,0 -17-43045622-C-T,17,43045622,rs2152458384,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*56G>A,,c.*56G>A,3_prime_UTR_variant,,,,1,832718,0.0000012008867347649505,0,0,,,7.05,,,0.0200,0.828,,,0,15776,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,1,761556,0,0,,,,,0,16448,0,0,0,27284,0,0 -17-43045628-G-A,17,43045628,rs2050849332,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*50C>T,,c.*50C>T,3_prime_UTR_variant,,,,5,1460896,0.0000034225571156331457,0,0,nfe,7.200000000000001e-7,7.11,,,0.0200,2.25,,,0,33400,0,0,0,44632,0,0,0,26120,0,0,0,39688,0,0,0,53410,0,0,0,5558,0,0,3,1111614,0,0,,,,,0,86166,0,0,2,60308,0,0 -17-43045635-C-A,17,43045635,rs758539310,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*43G>T,,c.*43G>T,3_prime_UTR_variant,,,,2,628026,0.000003184581530064042,0,0,,,0.517,,0.00,0.0300,-0.0480,,,0,17628,0,0,0,43638,0,0,0,20966,0,0,1,36062,0,0,0,53138,0,0,0,4032,0,0,0,349824,0,0,,,,,1,69710,0,0,0,33028,0,0 -17-43045639-C-T,17,43045639,rs777938968,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*39G>A,,c.*39G>A,3_prime_UTR_variant,,,,4,1461184,0.0000027375060225132495,0,0,nfe,8.4e-7,0.220,,0.00,0.0200,-0.165,,,0,33424,0,0,0,44644,0,0,0,26114,0,0,0,39696,0,0,0,53416,0,0,0,5690,0,0,4,1111658,0,0,,,,,0,86192,0,0,0,60350,0,0 -17-43045642-G-A,17,43045642,rs3092995,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*36C>T,,c.*36C>T,3_prime_UTR_variant,,,,5,1613324,0.000003099191482925934,0,0,afr,0.00000443,0.852,,0.00,0.0200,0.335,,,2,74862,0,0,1,59920,0,0,0,29580,0,0,0,44876,0,0,0,64026,0,0,0,6012,0,0,2,1179668,0,0,0,912,0,0,0,91022,0,0,0,62446,0,0 -17-43045642-G-C,17,43045642,rs3092995,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*36C>G,,c.*36C>G,3_prime_UTR_variant,Benign,125873,,4263,1613442,0.002642177407058946,102,0,afr,0.04755613,0.522,,0.00,0.0500,0.335,,,3665,74984,97,0,245,59940,3,0,2,29580,0,0,0,44864,0,0,0,64026,0,0,16,5990,1,0,75,1179660,0,0,0,912,0,0,12,91018,0,0,248,62468,1,0 -17-43045647-C-T,17,43045647,rs776323505,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*31G>A,,c.*31G>A,3_prime_UTR_variant,,,,20,1613404,0.000012396151242962085,0,0,eas,0.00024073999999999998,7.50,,0.00,0.0300,4.06,,,0,74886,0,0,0,59948,0,0,0,29578,0,0,17,44876,0,0,0,64032,0,0,0,6020,0,0,1,1179674,0,0,0,912,0,0,0,91020,0,0,2,62458,0,0 -17-43045648-C-T,17,43045648,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*30G>A,,c.*30G>A,3_prime_UTR_variant,,,,1,833108,0.0000012003245677631232,0,0,,,2.34,,0.00,0.0100,0.612,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045652-G-A,17,43045652,rs745752144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*26C>T,,c.*26C>T,3_prime_UTR_variant,,,,1,628192,0.0000015918700015281952,0,0,,,2.98,,0.00,0.0100,3.75,,,0,17650,0,0,1,43680,0,0,0,20954,0,0,0,36062,0,0,0,53130,0,0,0,4102,0,0,0,349808,0,0,,,,,0,69738,0,0,0,33068,0,0 -17-43045653-G-A,17,43045653,rs769632909,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*25C>T,,c.*25C>T,3_prime_UTR_variant,,,,2,628278,0.0000031833042060998477,0,0,,,7.97,,0.00,-0.0100,2.36,,,1,17674,0,0,0,43698,0,0,0,20956,0,0,0,36062,0,0,0,53126,0,0,0,4104,0,0,0,349846,0,0,,,,,1,69744,0,0,0,33068,0,0 -17-43045655-T-G,17,43045655,rs1305255318,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*23A>C,,c.*23A>C,3_prime_UTR_variant,,,,1,628332,0.0000015915153135603471,0,0,,,0.444,,0.00,0.0300,0.0420,,,0,17680,0,0,0,43700,0,0,0,20964,0,0,0,36060,0,0,0,53132,0,0,0,4116,0,0,1,349856,0,0,,,,,0,69748,0,0,0,33076,0,0 -17-43045656-C-G,17,43045656,rs1346384762,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*22G>C,,c.*22G>C,3_prime_UTR_variant,Likely benign,1697598,,20,1613632,0.000012394399714433031,0,0,sas,0.00014506,0.345,,0.00,-0.0200,0.548,,,0,74924,0,0,0,59956,0,0,0,29586,0,0,0,44882,0,0,0,64020,0,0,0,6042,0,0,0,1179794,0,0,0,912,0,0,20,91044,0,0,0,62472,0,0 -17-43045657-T-C,17,43045657,rs1232678023,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*21A>G,,c.*21A>G,3_prime_UTR_variant,,,,3,1461378,0.000002052856961032669,0,0,,,1.25,,0.00,0.140,0.841,,,1,33464,0,0,0,44684,0,0,0,26110,0,0,0,39690,0,0,0,53408,0,0,0,5734,0,0,1,1111710,0,0,,,,,1,86210,0,0,0,60368,0,0 -17-43045658-G-A,17,43045658,rs375042815,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*20C>T,,c.*20C>T,3_prime_UTR_variant,Conflicting interpretations of pathogenicity,182099,,12,1461428,0.000008211146905629288,0,0,afr,0.0000099,2.29,,0.00,-0.0300,-1.65,,,2,33470,0,0,0,44684,0,0,0,26116,0,0,0,39692,0,0,0,53404,0,0,0,5742,0,0,9,1111732,0,0,,,,,0,86214,0,0,1,60374,0,0 -17-43045659-T-C,17,43045659,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*19A>G,,c.*19A>G,3_prime_UTR_variant,,,,1,628310,0.0000015915710397733604,0,0,,,0.275,,0.00,-0.140,-0.652,,,0,17678,0,0,0,43700,0,0,0,20960,0,0,0,36062,0,0,0,53128,0,0,0,4120,0,0,1,349830,0,0,,,,,0,69756,0,0,0,33076,0,0 -17-43045661-C-T,17,43045661,rs2152470975,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*17G>A,,c.*17G>A,3_prime_UTR_variant,,,,1,1461408,6.842716065602487e-7,0,0,,,0.526,,0.00,0.180,-2.02,,,0,33470,0,0,0,44686,0,0,0,26112,0,0,0,39692,0,0,0,53404,0,0,0,5748,0,0,0,1111704,0,0,,,,,1,86216,0,0,0,60376,0,0 -17-43045664-G-C,17,43045664,rs1064796142,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*14C>G,,c.*14C>G,3_prime_UTR_variant,Uncertain significance,422987,,1,628308,0.000001591576105986236,0,0,,,0.546,,0.00,0.0600,-2.42,,,0,17678,0,0,0,43696,0,0,0,20960,0,0,0,36062,0,0,0,53130,0,0,0,4134,0,0,1,349810,0,0,,,,,0,69758,0,0,0,33080,0,0 -17-43045665-T-G,17,43045665,rs762552027,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*13A>C,,c.*13A>C,3_prime_UTR_variant,Likely benign,2576270,,10,1461402,0.000006842744159375723,0,0,sas,0.00005397999999999999,0.432,,0.00,0.0200,-0.981,,,0,33466,0,0,0,44680,0,0,0,26106,0,0,0,39692,0,0,0,53406,0,0,1,5756,0,0,0,1111720,0,0,,,,,9,86210,0,0,0,60366,0,0 -17-43045667-G-T,17,43045667,rs2152472885,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*11C>A,,c.*11C>A,3_prime_UTR_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.4,,0.00,0.0200,2.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045668-C-T,17,43045668,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*10G>A,,c.*10G>A,3_prime_UTR_variant,,,,1,628188,0.0000015918801377931447,0,0,,,5.74,,0.00,0.0400,0.0140,,,0,17674,0,0,0,43686,0,0,0,20944,0,0,0,36058,0,0,0,53130,0,0,0,4134,0,0,1,349748,0,0,,,,,0,69744,0,0,0,33070,0,0 -17-43045674-G-A,17,43045674,rs1057520246,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*4C>T,,c.*4C>T,3_prime_UTR_variant,Conflicting interpretations of pathogenicity,377575,,3,1461294,0.0000020529749660232643,0,0,nfe,7.200000000000001e-7,10.2,,0.00,-0.140,0.226,,,0,33462,0,0,0,44658,0,0,0,26112,0,0,0,39688,0,0,0,53400,0,0,0,5762,0,0,3,1111642,0,0,,,,,0,86208,0,0,0,60362,0,0 -17-43045675-C-T,17,43045675,rs1057521525,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.*3G>A,,c.*3G>A,3_prime_UTR_variant,,,,1,152172,0.000006571511184712037,0,0,,,3.87,,0.00,0.0100,-0.0100,,,1,41434,0,0,0,15272,0,0,0,3472,0,0,0,5188,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 -17-43045676-A-T,17,43045676,rs2152475848,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*2T>A,,c.*2T>A,3_prime_UTR_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.77,,0.00,0.0100,0.0700,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045682-T-C,17,43045682,rs1567756242,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Cys,p.Tyr1863Cys,c.5588A>G,missense_variant,Uncertain significance,631316,,2,1461468,0.0000013684870281114605,0,0,nfe,2.999999999999999e-7,23.7,0.461,0.00,0.00,0.156,0.00,0.00,0,33470,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53406,0,0,0,5768,0,0,2,1111722,0,0,,,,,0,86216,0,0,0,60370,0,0 -17-43045683-A-T,17,43045683,rs763740623,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Asn,p.Tyr1863Asn,c.5587T>A,missense_variant,,,,2,1461458,0.0000013684963919592625,0,0,,,22.9,0.517,0.00,0.0200,0.329,0.00,0.0310,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,1,86220,0,0,0,60370,0,0 -17-43045683-A-C,17,43045683,rs763740623,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Asp,p.Tyr1863Asp,c.5587T>G,missense_variant,Uncertain significance,231744,,1,1461458,6.842481959796313e-7,0,0,,,22.9,0.521,0.00,0.0800,0.329,0.00,0.0430,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,0,86220,0,0,0,60370,0,0 -17-43045683-A-G,17,43045683,rs763740623,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863His,p.Tyr1863His,c.5587T>C,missense_variant,,,,1,1461458,6.842481959796313e-7,0,0,,,22.9,0.407,0.00,0.0100,0.329,0.00,0.00,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,0,86220,0,0,0,60370,0,0 -17-43045684-G-A,17,43045684,rs774127304,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1862His,p.His1862His,c.5586C>T,synonymous_variant,Likely benign,185343,,53,1613678,0.000032844222949064185,0,0,nfe,0.00003341,5.28,,0.00,-0.0500,2.91,,,0,74926,0,0,0,59990,0,0,0,29582,0,0,0,44880,0,0,0,64028,0,0,0,6084,0,0,51,1179756,0,0,0,912,0,0,0,91056,0,0,2,62464,0,0 -17-43045685-T-A,17,43045685,rs80357183,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1862Leu,p.His1862Leu,c.5585A>T,missense_variant,Conflicting interpretations of pathogenicity,55637,,8,780506,0.000010249761052445464,0,0,nfe,0.000009230000000000001,14.4,0.553,0.00,0.0300,-0.658,0.0100,0.00,0,59140,0,0,0,58990,0,0,0,24434,0,0,0,41242,0,0,0,63756,0,0,0,4464,0,0,8,417818,0,0,0,912,0,0,0,74592,0,0,0,35158,0,0 -17-43045685-TG-T,17,43045685,rs2152482866,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1862ThrfsTer60,p.His1862ThrfsTer60,c.5584del,frameshift_variant,,,,1,628324,0.0000015915355771862925,0,0,,,23.6,,0.00,0.170,-0.658,,,0,17686,0,0,0,43706,0,0,0,20962,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,349794,0,0,,,,,0,69758,0,0,1,33072,0,0 -17-43045686-G-A,17,43045686,rs761585448,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1862Tyr,p.His1862Tyr,c.5584C>T,missense_variant,Uncertain significance,1748439,,1,628340,0.000001591495050450393,0,0,,,7.96,0.581,0.00,0.0400,-0.196,0.120,0.0910,0,17688,0,0,0,43708,0,0,0,20958,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,0,349814,0,0,,,,,1,69754,0,0,0,33074,0,0 -17-43045688-C-T,17,43045688,rs2152483837,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1861Asn,p.Ser1861Asn,c.5582G>A,missense_variant,Uncertain significance,1381587,,1,628308,0.000001591576105986236,0,0,,,20.7,0.465,0.00,0.0200,1.49,0.0300,0.00600,0,17688,0,0,1,43702,0,0,0,20960,0,0,0,36062,0,0,0,53128,0,0,0,4146,0,0,0,349812,0,0,,,,,0,69740,0,0,0,33070,0,0 -17-43045690-GTGGGGGATC-G,17,43045690,rs775417240,GTGGGGGATC,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1857_Pro1859del,p.Gln1857_Pro1859del,c.5571_5579del,inframe_deletion,Conflicting interpretations of pathogenicity,187111,,35,1613712,0.000021689124205558363,0,0,sas,0.00028333000000000015,11.9,,0.00,0.0800,-0.582,,,0,74924,0,0,0,59976,0,0,0,29584,0,0,0,44878,0,0,0,64034,0,0,0,6084,0,0,0,1179812,0,0,0,912,0,0,35,91046,0,0,0,62462,0,0 -17-43045690-G-T,17,43045690,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860Gln,p.His1860Gln,c.5580C>A,missense_variant,Likely benign,1748423,,1,1461500,6.842285323297981e-7,0,0,,,7.37,0.581,0.00,-0.0200,-0.582,0.250,0.00,0,33476,0,0,0,44692,0,0,0,26112,0,0,0,39692,0,0,0,53406,0,0,0,5768,0,0,1,1111774,0,0,,,,,0,86208,0,0,0,60372,0,0 -17-43045691-T-TG,17,43045691,rs397507254,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860ProfsTer20,p.His1860ProfsTer20,c.5578dup,frameshift_variant,Conflicting interpretations of pathogenicity,37683,,5,627376,0.000007969702379434343,0,0,,,24.2,,0.00,0.150,-0.957,,,0,17684,0,0,0,43710,0,0,0,20950,0,0,0,36060,0,0,2,52514,0,0,0,4146,0,0,1,349604,0,0,,,,,0,69696,0,0,2,33012,0,0 -17-43045692-G-C,17,43045692,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860Asp,p.His1860Asp,c.5578C>G,missense_variant,,,,1,628276,0.000001591657169778887,0,0,,,20.0,0.561,0.00,0.110,0.380,0.00,0.0150,0,17684,0,0,0,43700,0,0,0,20958,0,0,0,36060,0,0,0,53136,0,0,0,4148,0,0,0,349826,0,0,,,,,1,69686,0,0,0,33078,0,0 -17-43045694-G-C,17,43045694,rs80357322,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1859Arg,p.Pro1859Arg,c.5576C>G,missense_variant,Benign,55634,,99,1613526,0.00006135630910192956,0,0,nfe,0.00006477,22.6,0.509,0.00,0.100,3.94,0.00,0.371,0,74902,0,0,0,59972,0,0,0,29582,0,0,0,44878,0,0,0,64020,0,0,0,6084,0,0,92,1179768,0,0,0,912,0,0,0,90956,0,0,7,62452,0,0 -17-43045695-G-T,17,43045695,rs1555574342,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1859Thr,p.Pro1859Thr,c.5575C>A,missense_variant,Uncertain significance,462676,,2,628286,0.0000031832636729132913,0,0,nfe,9.5e-7,6.07,0.554,0.00,0.0600,-1.02,0.200,0.00300,0,17684,0,0,0,43708,0,0,0,20954,0,0,0,36064,0,0,0,53134,0,0,0,4144,0,0,2,349836,0,0,,,,,0,69692,0,0,0,33070,0,0 -17-43045696-G-C,17,43045696,rs876659941,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1858Met,p.Ile1858Met,c.5574C>G,missense_variant,Uncertain significance,438943,,2,1461422,0.0000013685301028724078,0,0,,,18.5,0.510,0.00,0.0400,0.927,0.0500,0.0150,0,33470,0,0,0,44700,0,0,0,26116,0,0,0,39696,0,0,0,53406,0,0,1,5768,0,0,1,1111760,0,0,,,,,0,86134,0,0,0,60372,0,0 -17-43045696-G-A,17,43045696,rs876659941,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1858Ile,p.Ile1858Ile,c.5574C>T,synonymous_variant,Likely benign,232711,,1,152170,0.0000065715975553657095,0,0,,,5.18,,0.00,-0.0100,0.927,,,0,41434,0,0,0,15270,0,0,1,3472,0,0,0,5188,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43045697-A-G,17,43045697,rs755427809,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1858Thr,p.Ile1858Thr,c.5573T>C,missense_variant,Conflicting interpretations of pathogenicity,186496,,2,151814,0.000013174015571686406,0,0,afr,0.00001349,21.6,0.514,0.00,-0.0100,0.533,0.0500,0.0130,2,41318,0,0,0,15256,0,0,0,3472,0,0,0,5158,0,0,0,10558,0,0,0,316,0,0,0,67952,0,0,0,912,0,0,0,4794,0,0,0,2078,0,0 -17-43045698-T-G,17,43045698,rs765656957,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1858Leu,p.Ile1858Leu,c.5572A>C,missense_variant,Benign,183951,,57,1613698,0.00003532259443836455,1,0,sas,0.00047623000000000007,8.80,0.548,0.00,-0.0100,-0.0740,0.270,0.00100,0,75010,0,0,0,59994,0,0,0,29590,0,0,0,44868,0,0,0,63990,0,0,0,6060,0,0,0,1179826,0,0,0,912,0,0,55,90966,1,0,2,62482,0,0 -17-43045699-C-A,17,43045699,rs28897699,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1857His,p.Gln1857His,c.5571G>T,missense_variant,Uncertain significance,246518,,5,985202,0.000005075101349773955,0,0,nfe,0.0000017699999999999998,18.3,0.520,0.0100,-0.100,0.612,0.0900,0.0970,0,57212,0,0,0,16250,0,0,0,8624,0,0,0,8816,0,0,0,10878,0,0,0,1936,0,0,5,829920,0,0,0,912,0,0,0,21266,0,0,0,29388,0,0 -17-43045704-G-T,17,43045704,rs80357274,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1856Thr,p.Pro1856Thr,c.5566C>A,missense_variant,Conflicting interpretations of pathogenicity,409334,,3,1613814,0.0000018589502879513996,0,0,,,15.4,0.471,0.00,0.0200,0.638,0.120,0.137,0,75010,0,0,0,59994,0,0,0,29578,0,0,2,44866,0,0,0,64012,0,0,0,6062,0,0,1,1179852,0,0,0,912,0,0,0,91040,0,0,0,62488,0,0 -17-43045704-G-A,17,43045704,rs80357274,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1856Ser,p.Pro1856Ser,c.5566C>T,missense_variant,Likely benign,55632,,7,1461600,0.000004789272030651341,0,0,sas,0.000015830000000000003,15.3,0.433,0.00,0.0100,0.638,0.520,0.137,0,33474,0,0,1,44706,0,0,0,26106,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111838,0,0,,,,,4,86222,0,0,1,60380,0,0 -17-43045705-T-TAGG,17,43045705,,T,TAGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855_Pro1856insLeu,p.Ile1855_Pro1856insLeu,c.5564_5565insCCT,inframe_insertion,,,,1,628242,0.0000015917433091070002,0,0,,,17.5,,0.00,0.0700,-0.503,,,0,17684,0,0,0,43698,0,0,0,20942,0,0,0,36066,0,0,0,53116,0,0,0,4126,0,0,1,349822,0,0,,,,,0,69722,0,0,0,33066,0,0 -17-43045705-T-A,17,43045705,rs758449088,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855Ile,p.Ile1855Ile,c.5565A>T,synonymous_variant,not provided,869060,,1,628242,0.0000015917433091070002,0,0,,,5.26,,0.00,0.0100,-0.503,,,0,17684,0,0,0,43698,0,0,0,20942,0,0,0,36066,0,0,0,53116,0,0,0,4126,0,0,0,349822,0,0,,,,,1,69722,0,0,0,33066,0,0 -17-43045707-T-TCC,17,43045707,,T,TCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855GlyfsTer68,p.Ile1855GlyfsTer68,c.5562_5563insGG,frameshift_variant,,,,1,628496,0.0000015911000229118403,0,0,,,27.6,,0.00,0.160,0.267,,,0,17690,0,0,0,43718,0,0,0,20956,0,0,0,36066,0,0,0,53138,0,0,0,4144,0,0,1,349944,0,0,,,,,0,69766,0,0,0,33074,0,0 -17-43045708-C-T,17,43045708,rs786201648,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1854Leu,p.Leu1854Leu,c.5562G>A,synonymous_variant,Likely benign,184730,,1,628432,0.0000015912620617664283,0,0,,,8.52,,0.00,-0.0800,4.23,,,0,17690,0,0,1,43716,0,0,0,20944,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,349908,0,0,,,,,0,69754,0,0,0,33068,0,0 -17-43045708-C-G,17,43045708,rs786201648,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1854Leu,p.Leu1854Leu,c.5562G>C,synonymous_variant,not provided,868674,,1,628432,0.0000015912620617664283,0,0,,,7.57,,0.00,-0.0300,4.23,,,1,17690,0,0,0,43716,0,0,0,20944,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,349908,0,0,,,,,0,69754,0,0,0,33068,0,0 -17-43045711-G-GT,17,43045711,rs80357629,G,GT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1853Ter,p.Tyr1853Ter,c.5558dup,stop_gained,Pathogenic,55628,,2,780652,0.0000025619610274488503,0,0,,,35.0,,0.00,-0.0900,4.97,,,0,59106,0,0,0,58976,0,0,0,24422,0,0,0,41256,0,0,0,63748,0,0,0,4464,0,0,2,418000,0,0,0,912,0,0,0,74604,0,0,0,35164,0,0 -17-43045712-T-C,17,43045712,rs80357258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1853Cys,p.Tyr1853Cys,c.5558A>G,missense_variant,Pathogenic/Likely pathogenic,55627,,1,628542,0.0000015909835778675093,0,0,,,28.8,0.836,0.00,-0.0200,6.36,0.00,0.999,0,17690,0,0,0,43720,0,0,0,20962,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,1,349972,0,0,,,,,0,69764,0,0,0,33078,0,0 -17-43045714-G-C,17,43045714,rs80356841,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1852Thr,p.Thr1852Thr,c.5556C>G,synonymous_variant,Likely benign,55626,,1,152108,0.000006574276172193441,0,0,,,9.74,,0.00,0.0100,1.90,,,0,41422,0,0,0,15258,0,0,0,3472,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4824,0,0,0,2080,0,0 -17-43045716-T-C,17,43045716,rs1555574370,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1852Ala,p.Thr1852Ala,c.5554A>G,missense_variant,Uncertain significance,441287,,1,628580,0.000001590887396990041,0,0,,,15.3,0.464,0.00,0.0500,-1.17,0.710,0.00,0,17692,0,0,0,43722,0,0,0,20954,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,1,350006,0,0,,,,,0,69772,0,0,0,33078,0,0 -17-43045720-C-G,17,43045720,rs786201502,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1850Leu,p.Leu1850Leu,c.5550G>C,synonymous_variant,Likely benign,184500,,38,1461686,0.00002599737563334396,0,0,nfe,0.0000237,9.49,,0.00,0.0200,2.47,,,0,33478,0,0,0,44708,0,0,0,26102,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,36,1111924,0,0,,,,,0,86208,0,0,2,60382,0,0 -17-43045723-C-A,17,43045723,rs1426388214,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1849Asp,p.Glu1849Asp,c.5547G>T,missense_variant,not provided,865003,,1,628618,0.0000015907912277408537,0,0,,,16.3,0.546,0.00,0.0100,0.851,0.160,0.00300,0,17692,0,0,0,43732,0,0,0,20948,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350040,0,0,,,,,0,69758,0,0,0,33090,0,0 -17-43045723-C-T,17,43045723,rs1426388214,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1849Glu,p.Glu1849Glu,c.5547G>A,synonymous_variant,Likely benign,482953,,2,628618,0.0000031815824554817074,0,0,,,8.08,,0.00,0.0100,0.851,,,0,17692,0,0,0,43732,0,0,0,20948,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350040,0,0,,,,,1,69758,0,0,0,33090,0,0 -17-43045726-C-A,17,43045726,rs2050865178,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1848His,p.Gln1848His,c.5544G>T,missense_variant,not provided,869027,,1,628670,0.0000015906596465554266,0,0,,,24.9,0.682,0.00,-0.0300,5.95,0.00,0.955,0,17690,0,0,0,43732,0,0,0,20968,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350070,0,0,,,,,1,69764,0,0,0,33086,0,0 -17-43045729-G-A,17,43045729,rs397509295,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1847Cys,p.Cys1847Cys,c.5541C>T,synonymous_variant,Likely benign,415547,,1,628656,0.0000015906950701178388,0,0,,,12.1,,0.00,-0.0400,2.35,,,0,17688,0,0,0,43722,0,0,0,20964,0,0,0,36070,0,0,0,53142,0,0,1,4148,0,0,0,350070,0,0,,,,,0,69764,0,0,0,33088,0,0 -17-43045730-C-T,17,43045730,rs1182000313,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1847Tyr,p.Cys1847Tyr,c.5540G>A,missense_variant,Conflicting interpretations of pathogenicity,867638,,1,628620,0.0000015907861665234959,0,0,,,23.8,0.756,0.00,0.0400,4.95,0.230,0.645,0,17692,0,0,0,43724,0,0,0,20964,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350024,0,0,,,,,1,69770,0,0,0,33086,0,0 -17-43045730-C-CCAGTGCCAGGACAGCAGG,17,43045730,rs1555574380,C,CCAGTGCCAGGACAGCAGG,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1847delinsSerCysCysProGlyThrGly,p.Cys1847delinsSerCysCysProGlyThrGly,c.5539_5540insCCTGCTGTCCTGGCACTG,protein_altering_variant,,,,1,152102,0.000006574535509066285,0,0,,,33.0,,0.00,-0.0400,4.95,,,0,41414,0,0,0,15264,0,0,0,3470,0,0,0,5188,0,0,0,10606,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4818,0,0,0,2088,0,0 -17-43045730-C-A,17,43045730,rs1182000313,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1847Phe,p.Cys1847Phe,c.5540G>T,missense_variant,Conflicting interpretations of pathogenicity,582037,,1,152102,0.000006574535509066285,0,0,,,24.0,0.745,0.00,0.0400,4.95,,,0,41414,0,0,0,15264,0,0,0,3470,0,0,0,5188,0,0,0,10606,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4818,0,0,0,2088,0,0 -17-43045732-C-G,17,43045732,rs80356849,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1846His,p.Gln1846His,c.5538G>C,missense_variant,Conflicting interpretations of pathogenicity,482930,,3,1613844,0.0000018589157316320538,0,0,afr,0.00001064,23.6,0.645,0.00,0.0100,0.350,0.00,0.799,3,74876,0,0,0,59968,0,0,0,29594,0,0,0,44882,0,0,0,64018,0,0,0,6084,0,0,0,1179990,0,0,0,912,0,0,0,91048,0,0,0,62472,0,0 -17-43045732-C-T,17,43045732,rs80356849,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1846Gln,p.Gln1846Gln,c.5538G>A,synonymous_variant,Likely benign,55621,,2,1461786,0.000001368189324565976,0,0,,,8.37,,0.00,-0.0200,0.350,,,0,33476,0,0,0,44714,0,0,0,26122,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86228,0,0,1,60388,0,0 -17-43045732-CTGGT-C,17,43045732,rs1555574381,CTGGT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1845CysfsTer9,p.Tyr1845CysfsTer9,c.5534_5537del,frameshift_variant,,,,1,152058,0.000006576437938155178,0,0,,,33.0,,0.00,-0.280,0.350,,,0,41400,0,0,0,15254,0,0,0,3472,0,0,0,5182,0,0,0,10602,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2084,0,0 -17-43045734-G-T,17,43045734,rs80356873,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1846Lys,p.Gln1846Lys,c.5536C>A,missense_variant,Uncertain significance,825811,,2,780732,0.0000025616985085791283,0,0,,,23.0,0.578,0.00,0.0200,2.78,0.0100,0.0550,0,59068,0,0,0,58972,0,0,0,24440,0,0,0,41260,0,0,0,63738,0,0,0,4464,0,0,2,418102,0,0,0,912,0,0,0,74594,0,0,0,35182,0,0 -17-43045739-A-G,17,43045739,rs80357323,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1844Pro,p.Leu1844Pro,c.5531T>C,missense_variant,Conflicting interpretations of pathogenicity,419732,,3,1461658,0.0000020524637090208516,0,0,nfe,2.999999999999999e-7,26.7,0.709,0.00,0.00,3.71,0.0100,0.970,0,33474,0,0,0,44666,0,0,0,26116,0,0,0,39700,0,0,0,53416,0,0,0,5766,0,0,2,1111950,0,0,,,,,0,86186,0,0,1,60384,0,0 -17-43045739-A-C,17,43045739,rs80357323,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1844Arg,p.Leu1844Arg,c.5531T>G,missense_variant,Benign,55615,,15,1613724,0.000009295269823092424,0,0,afr,0.00000443,26.3,0.692,0.00,0.0400,3.71,0.00,0.935,2,74876,0,0,0,59930,0,0,7,29588,0,0,0,44884,0,0,0,64010,0,0,0,6082,0,0,5,1179962,0,0,0,912,0,0,0,91008,0,0,1,62472,0,0 -17-43045739-A-T,17,43045739,rs80357323,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1844His,p.Leu1844His,c.5531T>A,missense_variant,not provided,868627,,1,1461658,6.841545696736172e-7,0,0,,,26.1,0.638,0.00,-0.0100,3.71,0.00,0.955,0,33474,0,0,0,44666,0,0,0,26116,0,0,0,39700,0,0,0,53416,0,0,0,5766,0,0,1,1111950,0,0,,,,,0,86186,0,0,0,60384,0,0 -17-43045740-G-T,17,43045740,rs1471435242,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1844Ile,p.Leu1844Ile,c.5530C>A,missense_variant,Conflicting interpretations of pathogenicity,482889,,4,152092,0.00002629987113063146,0,0,afr,0.00003252,24.0,0.498,0.00,0.0100,3.48,0.0500,0.534,4,41398,0,0,0,15262,0,0,0,3472,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4814,0,0,0,2092,0,0 -17-43045741-T-G,17,43045741,rs1160863525,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1843Ala,p.Ala1843Ala,c.5529A>C,synonymous_variant,Likely benign,482890,,4,151846,0.000026342478563808068,0,0,afr,0.000032569999999999995,10.7,,0.00,0.0300,3.33,,,4,41310,0,0,0,15242,0,0,0,3468,0,0,0,5168,0,0,0,10546,0,0,0,316,0,0,0,67982,0,0,0,910,0,0,0,4818,0,0,0,2086,0,0 -17-43045742-G-A,17,43045742,rs730881447,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1843Val,p.Ala1843Val,c.5528C>T,missense_variant,Conflicting interpretations of pathogenicity,496396,,4,780842,0.0000051226752659308795,0,0,afr,0.00001348,26.0,0.679,0.00,0.0100,5.85,0.00,0.0900,3,59084,0,0,1,58998,0,0,0,24450,0,0,0,41262,0,0,0,63740,0,0,0,4462,0,0,0,418128,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 -17-43045743-C-G,17,43045743,rs80357019,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1843Pro,p.Ala1843Pro,c.5527G>C,missense_variant,Likely pathogenic,55614,,1,1461840,6.840693919991244e-7,0,0,,,25.1,0.704,0.00,0.0500,3.95,0.00,0.877,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,0,1111986,0,0,,,,,1,86248,0,0,0,60394,0,0 -17-43045743-C-A,17,43045743,rs80357019,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1843Ser,p.Ala1843Ser,c.5527G>T,missense_variant,not provided,867626,,1,1461840,6.840693919991244e-7,0,0,,,22.9,0.595,0.00,0.0400,3.95,0.160,0.230,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86248,0,0,0,60394,0,0 -17-43045748-C-T,17,43045748,rs80357368,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Asn,p.Ser1841Asn,c.5522G>A,missense_variant,Conflicting interpretations of pathogenicity,55613,,1,628754,0.0000015904471383084641,0,0,,,25.2,0.626,0.00,0.0400,8.90,0.00,0.995,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69798,0,0,0,33090,0,0 -17-43045748-C-G,17,43045748,rs80357368,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Thr,p.Ser1841Thr,c.5522G>C,missense_variant,Conflicting interpretations of pathogenicity,423044,,1,628754,0.0000015904471383084641,0,0,,,25.0,0.700,0.00,0.0300,8.90,0.00,0.992,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33090,0,0 -17-43045749-T-C,17,43045749,rs80357299,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Gly,p.Ser1841Gly,c.5521A>G,missense_variant,Uncertain significance,825803,,3,833102,0.0000036009996374993697,0,0,nfe,0.00000105,26.5,0.774,0.00,0.0600,6.36,0.00,0.997,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045751-T-C,17,43045751,rs2050874260,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1840Gly,p.Asp1840Gly,c.5519A>G,missense_variant,not provided,868612,,1,628776,0.0000015903914907693677,0,0,,,29.8,0.821,0.00,-0.0700,6.36,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43045752-C-T,17,43045752,rs1567756588,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1840Asn,p.Asp1840Asn,c.5518G>A,missense_variant,Uncertain significance,580534,,2,628768,0.0000031808234515751436,0,0,sas,0.00000475,26.9,0.694,0.00,-0.0100,8.90,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4146,0,0,0,350100,0,0,,,,,2,69798,0,0,0,33096,0,0 -17-43045756-C-T,17,43045756,rs786201248,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1838Val,p.Val1838Val,c.5514G>A,synonymous_variant,not provided,864954,,1,1461878,6.840516103258959e-7,0,0,,,1.94,,0.00,-0.0200,-0.427,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,0,1112006,0,0,,,,,1,86258,0,0,0,60394,0,0 -17-43045756-C-A,17,43045756,rs786201248,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1838Val,p.Val1838Val,c.5514G>T,synonymous_variant,Likely benign,184051,,3,1461878,0.0000020521548309776876,0,0,nfe,2.999999999999999e-7,1.50,,0.00,-0.0200,-0.427,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86258,0,0,1,60394,0,0 -17-43045758-C-T,17,43045758,rs730881501,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1838Met,p.Val1838Met,c.5512G>A,missense_variant,Conflicting interpretations of pathogenicity,182173,,1,152088,0.000006575140708011152,0,0,,,25.6,0.627,0.00,0.0800,7.13,0.00,0.996,0,41396,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10586,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43045758-C-A,17,43045758,rs730881501,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1838Leu,p.Val1838Leu,c.5512G>T,missense_variant,Uncertain significance,184981,,1,152088,0.000006575140708011152,0,0,,,25.1,0.594,0.00,0.0300,7.13,0.00,0.830,1,41396,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10586,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43045759-C-G,17,43045759,rs80356914,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1837Cys,p.Trp1837Cys,c.5511G>C,missense_variant,Pathogenic/Likely pathogenic,421244,,1,628772,0.0000015904016082141062,0,0,,,28.1,0.862,0.00,0.0700,7.14,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43045761-A-G,17,43045761,rs80356959,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1837Arg,p.Trp1837Arg,c.5509T>C,missense_variant,Pathogenic,37679,,1,628780,0.0000015903813734533542,0,0,,,28.7,0.900,0.00,0.0600,6.33,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33096,0,0 -17-43045764-C-T,17,43045764,rs80356942,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1836Lys,p.Glu1836Lys,c.5506G>A,missense_variant,Uncertain significance,55605,,3,628780,0.000004771144120360063,0,0,nfe,9.5e-7,26.3,0.577,0.00,0.0100,8.90,0.00,0.971,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43045765-T-G,17,43045765,rs2050879074,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Arg,p.Arg1835Arg,c.5505A>C,synonymous_variant,not provided,867607,,1,628776,0.0000015903914907693677,0,0,,,9.95,,0.00,0.0300,1.59,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43045766-C-T,17,43045766,rs273902776,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1835Gln,p.Arg1835Gln,c.5504G>A,missense_variant,Conflicting interpretations of pathogenicity,55604,,22,1613968,0.000013631001358143407,0,0,afr,0.00001747,26.7,0.503,0.00,-0.0300,7.14,0.0100,0.992,4,74886,0,0,0,59978,0,0,3,29608,0,0,1,44898,0,0,2,64000,0,0,0,6084,0,0,8,1180028,0,0,0,912,0,0,4,91086,0,0,0,62488,0,0 -17-43045766-C-G,17,43045766,rs273902776,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Pro,p.Arg1835Pro,c.5504G>C,missense_variant,Uncertain significance,182172,,3,1461886,0.0000020521436008006096,0,0,nfe,7.200000000000001e-7,27.1,0.480,0.00,-0.0500,7.14,0.0200,0.998,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43045767-G-A,17,43045767,rs41293465,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Ter,p.Arg1835Ter,c.5503C>T,stop_gained,Pathogenic,55601,,20,1461874,0.000013681069640748792,0,0,sas,0.00000924,37.0,,0.0200,-0.200,1.62,,,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,16,1111998,0,0,,,,,3,86258,0,0,0,60396,0,0 -17-43045773-C-A,17,43045773,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1833Leu,p.Val1833Leu,c.5497G>T,missense_variant,Uncertain significance,2565337,,1,1461892,6.840450594161539e-7,0,0,,,24.6,0.771,0.00,-0.0200,8.90,0.00,0.988,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43045773-C-T,17,43045773,rs80357268,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1833Met,p.Val1833Met,c.5497G>A,missense_variant,Pathogenic/Likely pathogenic,55598,,1,1461892,6.840450594161539e-7,0,0,,,25.2,0.750,0.00,0.0200,8.90,0.00,0.999,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43045775-A-G,17,43045775,rs749290001,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1832Ala,p.Val1832Ala,c.5495T>C,missense_variant,not provided,868593,,1,628784,0.0000015903712562660628,0,0,,,25.1,0.672,0.00,0.0300,6.33,0.00,0.740,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43045777-A-G,17,43045777,rs2050882264,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Pro,p.Pro1831Pro,c.5493T>C,synonymous_variant,Likely benign,867599,,1,833108,0.0000012003245677631232,0,0,,,4.22,,0.00,0.0200,-1.86,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045778-G-C,17,43045778,rs587782778,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Arg,p.Pro1831Arg,c.5492C>G,missense_variant,Conflicting interpretations of pathogenicity,142865,,9,833108,0.000010802921109868109,0,0,nfe,0.00000452,11.9,0.517,0.00,-0.0100,0.926,0.140,0.423,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,8,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43045779-G-T,17,43045779,rs768239314,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Thr,p.Pro1831Thr,c.5491C>A,missense_variant,not provided,864938,,1,628782,0.0000015903763148436182,0,0,,,12.5,0.531,0.00,-0.0100,1.21,0.410,0.762,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045781-G-T,17,43045781,rs2050883748,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1830Glu,p.Ala1830Glu,c.5489C>A,missense_variant,not provided,864932,,1,628776,0.0000015903914907693677,0,0,,,22.3,0.507,0.00,0.0300,0.379,0.00,0.956,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045782-C-T,17,43045782,rs80357393,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1830Thr,p.Ala1830Thr,c.5488G>A,missense_variant,Conflicting interpretations of pathogenicity,55594,,2,1461890,0.0000013680919905054415,0,0,nfe,2.999999999999999e-7,23.1,0.490,0.00,0.0300,5.05,0.00,0.787,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43045784-T-TC,17,43045784,rs768401297,T,TC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1829GlyfsTer51,p.Glu1829GlyfsTer51,c.5485dup,frameshift_variant,Pathogenic,254471,,1,628754,0.0000015904471383084641,0,0,,,29.2,,0.00,0.0200,0.994,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69798,0,0,0,33094,0,0 -17-43045785-C-T,17,43045785,rs869320789,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1829Lys,p.Glu1829Lys,c.5485G>A,missense_variant,Uncertain significance,225731,,1,628780,0.0000015903813734533542,0,0,,,16.9,0.407,0.00,-0.0300,1.61,0.210,0.0150,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045787-C-T,17,43045787,rs2050885374,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1828Tyr,p.Cys1828Tyr,c.5483G>A,missense_variant,not provided,867590,,1,628782,0.0000015903763148436182,0,0,,,24.7,0.560,0.00,0.0300,7.06,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045788-A-C,17,43045788,rs1060502342,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1828Gly,p.Cys1828Gly,c.5482T>G,missense_variant,Conflicting interpretations of pathogenicity,409329,,1,833110,0.0000012003216862119048,0,0,,,23.2,0.693,0.00,-0.0400,0.472,0.0400,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045789-C-T,17,43045789,rs587782432,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1827Ile,p.Met1827Ile,c.5481G>A,missense_variant,Conflicting interpretations of pathogenicity,142395,,33,1614052,0.0000204454379412807,0,0,nfe,0.00001803,22.9,0.454,0.00,-0.0200,2.98,0.130,0.00600,3,74912,0,0,0,60000,0,0,0,29608,0,0,0,44896,0,0,0,64026,0,0,0,6084,0,0,30,1180038,0,0,0,912,0,0,0,91090,0,0,0,62486,0,0 -17-43045791-T-C,17,43045791,rs771606902,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1827Val,p.Met1827Val,c.5479A>G,missense_variant,Uncertain significance,844324,,4,1461892,0.0000027361802376646154,0,0,sas,0.00000924,16.3,0.456,0.0100,-0.0500,-0.140,0.160,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,3,86258,0,0,0,60396,0,0 -17-43045792-C-A,17,43045792,rs80357332,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1826His,p.Gln1826His,c.5478G>T,missense_variant,Uncertain significance,55592,,1,628784,0.0000015903712562660628,0,0,,,24.2,0.533,0.00,-0.0500,3.01,0.00,0.152,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045793-T-A,17,43045793,rs730881499,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1826Leu,p.Gln1826Leu,c.5477A>T,missense_variant,Conflicting interpretations of pathogenicity,182170,,22,780910,0.000028172260567799106,0,0,,,24.4,0.493,0.00,0.0100,3.75,0.0600,0.0990,0,59122,0,0,0,59004,0,0,0,24456,0,0,0,41268,0,0,20,63748,0,0,0,4464,0,0,0,418122,0,0,0,912,0,0,0,74624,0,0,2,35190,0,0 -17-43045795-C-A,17,43045795,rs1057520941,C,A,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Ala697Ser,p.Ala697Ser,c.2089G>T,missense_variant,Likely benign,383141,,1,628782,0.0000015903763148436182,0,0,,,3.74,,0.00,0.0100,0.188,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045796-C-G,17,43045796,rs2050888423,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1825Ala,p.Gly1825Ala,c.5474G>C,missense_variant,not provided,868570,,1,833106,0.0000012003274493281767,0,0,,,18.7,0.413,0.00,0.0400,1.34,0.0200,0.720,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045797-C-T,17,43045797,rs398122700,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp696Ter,p.Trp696Ter,c.2087G>A,stop_gained,Uncertain significance,91654,lof_flag,1,628172,0.0000015919206841438332,0,0,,,23.6,0.548,0.0500,-0.110,1.62,0.0100,0.703,0,17678,0,0,0,43724,0,0,0,20950,0,0,0,36030,0,0,0,53046,0,0,0,4146,0,0,0,349762,0,0,,,,,1,69796,0,0,0,33040,0,0 -17-43045799-A-G,17,43045799,rs1301025671,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1824Thr,p.Ile1824Thr,c.5471T>C,missense_variant,Uncertain significance,867578,,5,984958,0.000005076358585848331,0,0,nfe,0.0000017699999999999998,24.4,0.558,0.00,0.0100,2.34,0.00,0.955,0,57142,0,0,0,16228,0,0,0,8620,0,0,0,8772,0,0,0,10860,0,0,0,1936,0,0,5,829870,0,0,0,912,0,0,0,21232,0,0,0,29386,0,0 -17-43045800-T-C,17,43045800,rs587782026,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1824Val,p.Ile1824Val,c.5470A>G,missense_variant,Conflicting interpretations of pathogenicity,141804,,2,628780,0.0000031807627469067084,0,0,amr,0.000007580000000000001,25.3,0.527,0.920,0.710,3.06,0.00,0.542,0,17694,0,0,2,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43045802-G-A,17,43045802,rs765681061,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1823Val,p.Ala1823Val,c.5468C>T,missense_variant,not provided,864911,,1,628774,0.0000015903965494756462,0,0,,,14.3,0.451,0.00,-0.0400,0.595,0.180,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045803-C-A,17,43045803,rs80358048,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-1G>T,,c.5468-1G>T,splice_acceptor_variant,not provided,864908,,1,628762,0.0000015904269023891392,0,0,,,34.0,,1.00,-0.820,8.90,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43045806-G-A,17,43045806,rs763484977,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-4C>T,,c.5468-4C>T,splice_region_variant,Uncertain significance,868959,,8,1461794,0.000005472727347355373,1,0,sas,0.000045779999999999985,9.23,,0.00,-0.0100,1.73,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,0,1111970,0,0,,,,,8,86258,1,0,0,60390,0,0 -17-43045806-G-T,17,43045806,rs763484977,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-4C>A,,c.5468-4C>A,splice_region_variant,Benign/Likely benign,825757,,1,152152,0.000006572374993427625,0,0,,,8.64,,0.00,0.0500,1.73,,,1,41426,0,0,0,15270,0,0,0,3468,0,0,0,5206,0,0,0,10604,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 -17-43045808-G-A,17,43045808,rs2050891161,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-6C>T,,c.5468-6C>T,splice_region_variant,not provided,868557,,1,628520,0.0000015910392668491059,0,0,,,8.11,,0.00,0.0500,2.86,,,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36066,0,0,0,53056,0,0,0,4148,0,0,1,349978,0,0,,,,,0,69796,0,0,0,33084,0,0 -17-43045810-C-CA,17,43045810,rs761414277,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-9dup,,c.5468-9dup,intron_variant,,,,1,628640,0.0000015907355561211504,0,0,,,18.5,,0.0100,0.0200,0.721,,,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53120,0,0,0,4148,0,0,0,350010,0,0,,,,,1,69796,0,0,0,33094,0,0 -17-43045810-CAGAG-C,17,43045810,,CAGAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-12_5468-9del,,c.5468-12_5468-9del,intron_variant,,,,1,628640,0.0000015907355561211504,0,0,,,19.2,,0.0100,-0.120,0.721,,,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53120,0,0,0,4148,0,0,1,350010,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43045810-CAG-C,17,43045810,rs273902770,CAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-10_5468-9del,,c.5468-10_5468-9del,intron_variant,Benign/Likely benign,91652,,24,780704,0.00003074148460876337,0,0,amr,0.00023786999999999997,17.9,,0.00,-0.0100,0.721,,,0,59086,0,0,21,58998,0,0,0,24446,0,0,0,41266,0,0,0,63686,0,0,0,4464,0,0,0,418040,0,0,0,912,0,0,0,74626,0,0,3,35180,0,0 -17-43045811-A-C,17,43045811,rs2050891633,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-9T>G,,c.5468-9T>G,intron_variant,not provided,867562,,1,628718,0.000001590538206318254,0,0,,,23.5,,0.0100,-0.120,2.25,,,0,17694,0,0,0,43700,0,0,0,20982,0,0,0,36070,0,0,0,53136,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33090,0,0 -17-43045812-G-T,17,43045812,rs8176316,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-10C>A,,c.5468-10C>A,intron_variant,Benign,55589,,1268,1613766,0.000785739692123889,11,0,afr,0.01338558,15.3,,0.00,-0.0600,0.0470,,,1057,75012,9,0,95,59966,0,0,0,29594,0,0,0,44882,0,0,0,63934,0,0,9,6060,0,0,26,1179850,0,0,0,910,0,0,5,91074,0,0,76,62484,2,0 -17-43045812-G-C,17,43045812,rs8176316,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-10C>G,,c.5468-10C>G,intron_variant,not provided,864904,,1,1461508,6.842247870008238e-7,0,0,,,14.6,,0.00,-0.0500,0.0470,,,0,33474,0,0,0,44670,0,0,0,26128,0,0,0,39690,0,0,0,53342,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86250,0,0,0,60368,0,0 -17-43045814-G-A,17,43045814,rs751653743,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-12C>T,,c.5468-12C>T,intron_variant,Likely benign,1701810,,1,624772,0.000001600583893004168,0,0,,,17.0,,0.00,0.0300,2.04,,,0,17600,0,0,1,43594,0,0,0,20856,0,0,0,35884,0,0,0,52200,0,0,0,4120,0,0,0,347902,0,0,,,,,0,69758,0,0,0,32858,0,0 -17-43045815-A-G,17,43045815,rs2050892192,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-13T>C,,c.5468-13T>C,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,19.3,,0.00,-0.0600,2.38,,,1,41436,0,0,0,15282,0,0,0,3472,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43045816-A-G,17,43045816,rs1455009930,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-14T>C,,c.5468-14T>C,intron_variant,Likely benign,1109038,,2,1461884,0.0000013680976055555708,0,0,nfe,2.999999999999999e-7,19.0,,0.00,-0.0600,2.31,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,2,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43045817-C-T,17,43045817,rs2050892449,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-15G>A,,c.5468-15G>A,intron_variant,Likely benign,1154182,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,17.7,,0.00,-0.0100,2.91,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045819-C-T,17,43045819,rs80358176,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-17G>A,,c.5468-17G>A,intron_variant,Conflicting interpretations of pathogenicity,125854,,1,833100,0.0000012003360941063497,0,0,,,15.2,,0.00,0.00,1.32,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43045822-G-A,17,43045822,rs1313891279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-20C>T,,c.5468-20C>T,intron_variant,Conflicting interpretations of pathogenicity,629547,,2,1461852,0.0000013681275532680463,0,0,,,12.0,,0.00,0.0300,0.906,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53400,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86258,0,0,1,60392,0,0 -17-43045827-G-A,17,43045827,rs868769664,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-25C>T,,c.5468-25C>T,intron_variant,,,,3,748682,0.0000040070417079614575,0,0,nfe,0.0000020000000000000003,14.2,,0.00,0.0100,1.39,,,0,58004,0,0,0,58046,0,0,0,23174,0,0,0,38928,0,0,0,59088,0,0,0,4262,0,0,3,399074,0,0,0,908,0,0,0,74220,0,0,0,32978,0,0 -17-43045829-T-C,17,43045829,rs2152615672,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-27A>G,,c.5468-27A>G,intron_variant,,,,2,628738,0.000003180975223383985,0,0,,,20.9,,0.0400,-0.110,1.83,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,2,53106,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43045830-T-A,17,43045830,rs1307223280,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-28A>T,,c.5468-28A>T,intron_variant,,,,1,152188,0.000006570820301206403,0,0,,,13.8,,0.00,-0.0300,-0.0510,,,0,41454,0,0,1,15274,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4836,0,0,0,2094,0,0 -17-43045830-T-G,17,43045830,rs1307223280,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-28A>C,,c.5468-28A>C,intron_variant,,,,1,152188,0.000006570820301206403,0,0,,,14.1,,0.00,-0.0500,-0.0510,,,0,41454,0,0,0,15274,0,0,0,3470,0,0,1,5200,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4836,0,0,0,2094,0,0 -17-43045831-A-G,17,43045831,rs2152616630,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-29T>C,,c.5468-29T>C,intron_variant,,,,2,591798,0.000003379531529339403,0,0,,,22.0,,0.0100,-0.0900,2.92,,,0,16290,0,0,0,42596,0,0,0,19290,0,0,0,32928,0,0,2,49984,0,0,0,3896,0,0,0,327048,0,0,,,,,0,69426,0,0,0,30340,0,0 -17-43045832-G-C,17,43045832,rs757415688,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-30C>G,,c.5468-30C>G,intron_variant,,,,16,780008,0.00002051261012707562,0,0,amr,0.00015612999999999998,18.2,,0.00,-0.0500,1.64,,,0,59096,0,0,15,58984,0,0,0,24428,0,0,0,41226,0,0,0,63476,0,0,0,4458,0,0,1,417664,0,0,0,910,0,0,0,74622,0,0,0,35144,0,0 -17-43045833-T-C,17,43045833,rs2152617455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-31A>G,,c.5468-31A>G,intron_variant,,,,1,628702,0.0000015905786843369356,0,0,,,18.9,,0.00,-0.0100,0.939,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53082,0,0,0,4148,0,0,0,350090,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43045836-C-T,17,43045836,rs1348368111,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-34G>A,,c.5468-34G>A,intron_variant,,,,19,1563582,0.00001215158527023207,0,0,nfe,0.00001057,17.9,,0.00,0.0100,0.903,,,0,73110,0,0,0,58392,0,0,0,27540,0,0,0,41132,0,0,0,58218,0,0,0,5792,0,0,19,1149118,0,0,0,906,0,0,0,90438,0,0,0,58936,0,0 -17-43045842-A-T,17,43045842,rs80358151,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-40T>A,,c.5468-40T>A,intron_variant,Pathogenic,125857,,13,1457384,0.000008920092439604112,0,0,nfe,0.00000654,9.76,,0.00,-0.0100,0.262,,,0,33328,0,0,0,44622,0,0,0,25964,0,0,0,39364,0,0,0,52604,0,0,0,5732,0,0,13,1109488,0,0,,,,,0,86204,0,0,0,60078,0,0 -17-43045842-A-G,17,43045842,rs80358151,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-40T>C,,c.5468-40T>C,intron_variant,,,,4,1457386,0.000002744640061040795,0,0,sas,0.000015830000000000003,9.93,,0.00,-0.0100,0.262,,,0,33328,0,0,0,44622,0,0,0,25964,0,0,0,39364,0,0,0,52604,0,0,0,5732,0,0,0,1109490,0,0,,,,,4,86204,0,0,0,60078,0,0 -17-43045843-T-C,17,43045843,rs1003493421,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-41A>G,,c.5468-41A>G,intron_variant,,,,17,1613776,0.00001053429967975729,0,0,afr,0.00013306999999999997,13.8,,0.00,0.00,0.758,,,16,74892,0,0,0,60000,0,0,0,29608,0,0,0,44898,0,0,0,63866,0,0,1,6084,0,0,0,1179958,0,0,0,910,0,0,0,91074,0,0,0,62486,0,0 -17-43045847-C-G,17,43045847,rs781271325,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-45G>C,,c.5468-45G>C,intron_variant,,,,7,780690,0.000008966427134970346,0,0,amr,0.000022810000000000004,5.25,,0.00,0.0100,0.116,,,0,59116,0,0,4,59008,0,0,0,24450,0,0,0,41268,0,0,0,63542,0,0,0,4464,0,0,2,418120,0,0,0,910,0,0,0,74624,0,0,1,35188,0,0 -17-43045849-T-C,17,43045849,rs750701163,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-47A>G,,c.5468-47A>G,intron_variant,,,,1,628098,0.0000015921082378864444,0,0,,,6.44,,0.00,0.0100,0.818,,,0,17684,0,0,1,43726,0,0,0,20972,0,0,0,36042,0,0,0,52776,0,0,0,4142,0,0,0,349902,0,0,,,,,0,69786,0,0,0,33068,0,0 -17-43045850-G-A,17,43045850,rs755843861,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-48C>T,,c.5468-48C>T,intron_variant,,,,1,628392,0.0000015913633528116208,0,0,,,8.60,,0.00,0.00,0.258,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,52818,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69784,0,0,0,33094,0,0 -17-43045851-G-A,17,43045851,rs1597797362,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-49C>T,,c.5468-49C>T,intron_variant,Likely benign,803402,,1,1459764,6.850422397045002e-7,0,0,,,9.07,,0.00,0.00,1.81,,,0,33434,0,0,0,44692,0,0,0,26102,0,0,0,39642,0,0,0,52808,0,0,0,5756,0,0,1,1110810,0,0,,,,,0,86214,0,0,0,60306,0,0 -17-43045852-A-T,17,43045852,rs780019315,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-50T>A,,c.5468-50T>A,intron_variant,,,,1,628312,0.0000015915659735927374,0,0,,,7.22,,0.00,0.00,0.163,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,52768,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69788,0,0,0,33084,0,0 -17-43045854-T-G,17,43045854,rs749169255,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-52A>C,,c.5468-52A>C,intron_variant,,,,1,628292,0.0000015916166368503816,0,0,,,1.04,,0.00,0.0100,0.134,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36070,0,0,0,52732,0,0,0,4146,0,0,0,350056,0,0,,,,,1,69782,0,0,0,33094,0,0 -17-43045857-G-A,17,43045857,rs2152625527,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-55C>T,,c.5468-55C>T,intron_variant,,,,4,831648,0.000004809727192273655,0,0,nfe,0.0000012299999999999999,4.95,,0.00,0.00,0.529,,,0,15748,0,0,0,984,0,0,0,5140,0,0,0,3618,0,0,0,276,0,0,0,1618,0,0,4,760578,0,0,,,,,0,16424,0,0,0,27262,0,0 -17-43045858-C-T,17,43045858,rs2152625918,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-56G>A,,c.5468-56G>A,intron_variant,,,,2,1457372,0.0000013723332134828993,0,0,,,0.164,,0.00,0.00,-0.757,,,0,33372,0,0,0,44680,0,0,0,26064,0,0,0,39550,0,0,0,52736,0,0,0,5760,0,0,1,1108890,0,0,,,,,0,86074,0,0,1,60246,0,0 -17-43045860-C-G,17,43045860,rs1413685016,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-58G>C,,c.5468-58G>C,intron_variant,,,,1,151402,0.000006604932563638525,0,0,,,0.752,,0.00,0.0100,-0.111,,,1,41196,0,0,0,15218,0,0,0,3462,0,0,0,5126,0,0,0,10444,0,0,0,312,0,0,0,67912,0,0,0,908,0,0,0,4742,0,0,0,2082,0,0 -17-43045866-A-C,17,43045866,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-64T>G,,c.5468-64T>G,intron_variant,,,,1,627474,0.0000015936915314419403,0,0,,,10.1,,0.00,-0.0100,1.87,,,0,17690,0,0,0,43690,0,0,0,20972,0,0,0,36070,0,0,0,52114,0,0,0,4144,0,0,0,349982,0,0,,,,,1,69732,0,0,0,33080,0,0 -17-43045867-A-G,17,43045867,rs1466646808,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-65T>C,,c.5468-65T>C,intron_variant,,,,5,1596006,0.0000031328203026805665,0,0,nfe,8e-7,0.143,,0.00,-0.0100,-1.88,,,0,74490,0,0,0,59788,0,0,0,29302,0,0,0,44352,0,0,0,62128,0,0,0,6030,0,0,4,1166616,0,0,0,910,0,0,1,90632,0,0,0,61758,0,0 -17-43045869-C-T,17,43045869,rs1301247014,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-67G>A,,c.5468-67G>A,intron_variant,,,,32,1603884,0.000019951567569724494,0,0,eas,0.00022331999999999997,1.10,,0.00,0.00,0.291,,,0,74616,0,0,0,59872,0,0,0,29536,0,0,16,44836,0,0,0,62618,0,0,0,6054,0,0,10,1172516,0,0,0,910,0,0,6,90726,0,0,0,62200,0,0 -17-43045869-C-G,17,43045869,rs1301247014,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-67G>C,,c.5468-67G>C,intron_variant,,,,3,1451954,0.0000020661811600092014,0,0,,,0.867,,0.00,0.00,0.291,,,1,33264,0,0,0,44628,0,0,0,26066,0,0,0,39638,0,0,0,52098,0,0,0,5738,0,0,1,1104510,0,0,,,,,1,85902,0,0,0,60110,0,0 -17-43045870-G-A,17,43045870,rs959371199,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-68C>T,,c.5468-68C>T,intron_variant,,,,98,1601372,0.00006119752312392123,3,0,eas,0.00031335000000000005,0.441,,0.00,0.0100,-0.0510,,,2,74604,0,0,2,59890,0,0,0,29530,0,0,21,44838,1,0,0,62566,0,0,0,6058,0,0,3,1170188,0,0,0,910,0,0,0,90666,0,0,70,62122,2,0 -17-43045871-A-G,17,43045871,rs901576003,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-69T>C,,c.5468-69T>C,intron_variant,,,,26,1600318,0.000016246770954272837,0,0,nfe,0.000014659999999999999,8.59,,0.00,0.00,0.544,,,0,73962,0,0,1,59692,0,0,0,29510,0,0,0,44772,0,0,0,61864,0,0,0,6044,0,0,25,1170792,0,0,0,904,0,0,0,90650,0,0,0,62128,0,0 -17-43045871-A-C,17,43045871,rs901576003,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-69T>G,,c.5468-69T>G,intron_variant,,,,1,1449878,6.897132034557391e-7,0,0,,,8.36,,0.00,0.00,0.544,,,0,33214,0,0,0,44600,0,0,0,26044,0,0,0,39636,0,0,0,51722,0,0,0,5732,0,0,0,1103000,0,0,,,,,0,85880,0,0,1,60050,0,0 -17-43045872-CTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAA-C,17,43045872,,CTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-105_5468-71del,,c.5468-105_5468-71del,intron_variant,,,,1,1447806,6.907002733791682e-7,0,0,,,6.89,,0.00,0.0100,-0.494,,,0,33176,0,0,0,44588,0,0,0,26020,0,0,0,39616,0,0,0,51822,0,0,0,5742,0,0,1,1100994,0,0,,,,,0,85848,0,0,0,60000,0,0 -17-43045874-C-T,17,43045874,rs2152629924,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-72G>A,,c.5468-72G>A,intron_variant,,,,1,821902,0.0000012166900676723015,0,0,,,6.50,,0.00,0.0100,0.768,,,0,15528,0,0,0,966,0,0,0,5068,0,0,0,3570,0,0,0,276,0,0,0,1608,0,0,1,751744,0,0,,,,,0,16196,0,0,0,26946,0,0 -17-43045876-A-C,17,43045876,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-74T>G,,c.5468-74T>G,intron_variant,,,,1,625496,0.0000015987312468824742,0,0,,,0.181,,0.00,0.00,-1.36,,,0,17644,0,0,0,43594,0,0,0,20916,0,0,0,36030,0,0,0,51266,0,0,0,4130,0,0,0,349322,0,0,,,,,0,69594,0,0,1,33000,0,0 -17-43045877-G-A,17,43045877,rs2152630808,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-75C>T,,c.5468-75C>T,intron_variant,,,,1,1446764,6.911977350832616e-7,0,0,,,1.81,,0.00,0.00,0.658,,,0,33152,0,0,0,44552,0,0,0,26004,0,0,0,39610,0,0,0,51512,0,0,0,5734,0,0,0,1100480,0,0,,,,,1,85776,0,0,0,59944,0,0 -17-43047569-C-G,17,43047569,rs2152751595,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+74G>C,,c.5467+74G>C,intron_variant,,,,1,1270500,7.870916961826053e-7,0,0,,,5.99,,0.00,0.00,0.287,,,0,29560,0,0,0,44468,0,0,0,24952,0,0,1,38844,0,0,0,53314,0,0,0,5432,0,0,0,937472,0,0,,,,,0,82406,0,0,0,54052,0,0 -17-43047570-A-T,17,43047570,rs2152751721,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+73T>A,,c.5467+73T>A,intron_variant,,,,1,648670,0.0000015416159218092405,0,0,,,11.0,,0.00,-0.0100,0.858,,,0,12014,0,0,0,750,0,0,0,3998,0,0,0,2804,0,0,0,230,0,0,0,1290,0,0,1,593580,0,0,,,,,0,12780,0,0,0,21224,0,0 -17-43047571-C-G,17,43047571,rs2050967951,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+72G>C,,c.5467+72G>C,intron_variant,,,,1,152142,0.000006572806982950139,0,0,,,4.91,,0.00,0.00,0.665,,,0,41418,0,0,1,15284,0,0,0,3470,0,0,0,5206,0,0,0,10590,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43047572-C-T,17,43047572,rs2152751987,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+71G>A,,c.5467+71G>A,intron_variant,,,,1,665610,0.000001502381274319797,0,0,,,0.275,,0.00,0.00,-0.472,,,0,12340,0,0,0,774,0,0,0,4132,0,0,0,2884,0,0,0,236,0,0,0,1332,0,0,1,609020,0,0,,,,,0,13106,0,0,0,21786,0,0 -17-43047574-G-A,17,43047574,rs1034688600,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>T,,c.5467+69C>T,intron_variant,,,,9,1326388,0.000006785344861382944,0,0,amr,0.00001786,8.96,,0.00,0.00,-0.0540,,,0,30744,0,0,3,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,2,5540,0,0,3,988378,0,0,,,,,1,83550,0,0,0,55938,0,0 -17-43047574-G-T,17,43047574,rs1034688600,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>A,,c.5467+69C>A,intron_variant,,,,14,1326388,0.000010554980895484579,0,0,afr,0.00012932999999999996,8.51,,0.00,0.00,-0.0540,,,8,30744,0,0,0,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,0,5540,0,0,0,988378,0,0,,,,,0,83550,0,0,6,55938,0,0 -17-43047574-G-C,17,43047574,rs1034688600,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>G,,c.5467+69C>G,intron_variant,,,,1,1326388,7.539272068203271e-7,0,0,,,8.62,,0.00,0.00,-0.0540,,,0,30744,0,0,0,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,0,5540,0,0,1,988378,0,0,,,,,0,83550,0,0,0,55938,0,0 -17-43047575-G-A,17,43047575,rs2050968367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+68C>T,,c.5467+68C>T,intron_variant,,,,1,1322066,7.563918896636022e-7,0,0,,,3.70,,0.00,0.00,0.974,,,0,30656,0,0,0,44544,0,0,0,25264,0,0,0,39052,0,0,0,53350,0,0,0,5522,0,0,0,984388,0,0,,,,,1,83498,0,0,0,55792,0,0 -17-43047578-A-G,17,43047578,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+65T>C,,c.5467+65T>C,intron_variant,,,,1,1345492,7.432225535343206e-7,0,0,,,7.59,,0.00,-0.0100,0.321,,,0,31138,0,0,0,44568,0,0,0,25400,0,0,1,39154,0,0,0,53360,0,0,0,5548,0,0,0,1005838,0,0,,,,,0,83942,0,0,0,56544,0,0 -17-43047578-A-T,17,43047578,rs752050539,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+65T>A,,c.5467+65T>A,intron_variant,,,,2,1345492,0.0000014864451070686411,0,0,nfe,3.3e-7,7.15,,0.00,-0.0100,0.321,,,0,31138,0,0,0,44568,0,0,0,25400,0,0,0,39154,0,0,0,53360,0,0,0,5548,0,0,2,1005838,0,0,,,,,0,83942,0,0,0,56544,0,0 -17-43047579-T-C,17,43047579,rs2152752864,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+64A>G,,c.5467+64A>G,intron_variant,,,,1,628624,0.0000015907760441853954,0,0,,,0.481,,0.00,0.00,-0.113,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36068,0,0,0,53120,0,0,0,4146,0,0,0,349996,0,0,,,,,0,69796,0,0,1,33092,0,0 -17-43047580-G-A,17,43047580,rs1382142086,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+63C>T,,c.5467+63C>T,intron_variant,,,,1,740866,0.0000013497717535964667,0,0,,,3.83,,0.00,0.00,0.536,,,0,13928,0,0,0,874,0,0,0,4610,0,0,0,3208,0,0,0,258,0,0,0,1456,0,0,1,677728,0,0,,,,,0,14618,0,0,0,24186,0,0 -17-43047582-G-A,17,43047582,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+61C>T,,c.5467+61C>T,intron_variant,,,,2,1397230,0.0000014314035627634678,0,0,amr,0.000007430000000000001,7.26,,0.00,0.00,1.74,,,0,32206,0,0,2,44640,0,0,0,25774,0,0,0,39404,0,0,0,53378,0,0,0,5650,0,0,0,1052958,0,0,,,,,0,84954,0,0,0,58266,0,0 -17-43047584-G-T,17,43047584,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+59C>A,,c.5467+59C>A,intron_variant,,,,1,790348,0.000001265265427381356,0,0,,,3.30,,0.00,0.00,1.08,,,0,14924,0,0,0,936,0,0,0,4902,0,0,0,3448,0,0,0,266,0,0,0,1560,0,0,1,722832,0,0,,,,,0,15564,0,0,0,25916,0,0 -17-43047591-C-G,17,43047591,rs898858577,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+52G>C,,c.5467+52G>C,intron_variant,,,,5,1595244,0.000003134316756558871,0,0,nfe,0.00000126,4.24,,0.00,-0.0200,1.24,,,0,74532,0,0,0,59968,0,0,0,29480,0,0,0,44808,0,0,0,63996,0,0,0,6056,0,0,5,1162902,0,0,0,912,0,0,0,90690,0,0,0,61900,0,0 -17-43047591-C-T,17,43047591,rs898858577,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+52G>A,,c.5467+52G>A,intron_variant,,,,15,1443108,0.000010394232448299088,0,0,nfe,0.00000823,4.67,,0.00,-0.0300,1.24,,,0,33098,0,0,0,44702,0,0,0,26010,0,0,0,39606,0,0,0,53400,0,0,0,5742,0,0,15,1094878,0,0,,,,,0,85866,0,0,0,59806,0,0 -17-43047594-AC-A,17,43047594,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48del,,c.5467+48del,intron_variant,,,,1,817538,0.0000012231847326974405,0,0,,,0.765,,0.0600,-0.0400,0.691,,,0,15484,0,0,0,968,0,0,0,5044,0,0,0,3550,0,0,0,272,0,0,0,1604,0,0,1,747672,0,0,,,,,0,16146,0,0,0,26798,0,0 -17-43047595-C-G,17,43047595,rs1255368071,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48G>C,,c.5467+48G>C,intron_variant,,,,1,1448642,6.903016756382874e-7,0,0,,,2.00,,0.0400,-0.0500,0.474,,,0,33236,0,0,0,44704,0,0,0,26050,0,0,0,39636,0,0,0,53408,0,0,0,5754,0,0,1,1099910,0,0,,,,,0,85986,0,0,0,59958,0,0 -17-43047595-C-T,17,43047595,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48G>A,,c.5467+48G>A,intron_variant,,,,10,1448642,0.000006903016756382874,0,0,sas,0.00005410999999999999,2.51,,0.0600,-0.0500,0.474,,,0,33236,0,0,0,44704,0,0,0,26050,0,0,0,39636,0,0,0,53408,0,0,0,5754,0,0,1,1099910,0,0,,,,,9,85986,0,0,0,59958,0,0 -17-43047599-T-C,17,43047599,rs569138982,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+44A>G,,c.5467+44A>G,intron_variant,,,,12,1607774,0.0000074637355747760565,0,0,sas,0.00005944999999999999,0.276,,0.00,0.00,-0.622,,,0,74930,0,0,0,59990,0,0,0,29560,0,0,0,44860,0,0,0,64014,0,0,0,6050,0,0,2,1174208,0,0,0,912,0,0,10,90952,0,0,0,62298,0,0 -17-43047600-G-A,17,43047600,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+43C>T,,c.5467+43C>T,intron_variant,,,,1,1455414,6.870897215500194e-7,0,0,,,3.21,,0.00,0.00,1.33,,,0,33374,0,0,0,44708,0,0,0,26088,0,0,1,39652,0,0,0,53410,0,0,0,5756,0,0,0,1106108,0,0,,,,,0,86128,0,0,0,60190,0,0 -17-43047606-G-C,17,43047606,rs1311698384,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+37C>G,,c.5467+37C>G,intron_variant,,,,1,830190,0.0000012045435382261892,0,0,,,6.46,,0.00,0.00,2.44,,,0,15750,0,0,0,974,0,0,0,5132,0,0,0,3608,0,0,0,276,0,0,0,1614,0,0,1,759212,0,0,,,,,0,16402,0,0,0,27222,0,0 -17-43047610-C-A,17,43047610,rs2152757052,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+33G>T,,c.5467+33G>T,intron_variant,,,,2,831724,0.000002404643848199643,0,0,nfe,4.4e-7,1.85,,0.0200,-0.0400,-0.768,,,0,15776,0,0,0,982,0,0,0,5148,0,0,0,3618,0,0,0,276,0,0,0,1616,0,0,2,760624,0,0,,,,,0,16440,0,0,0,27244,0,0 -17-43047611-C-T,17,43047611,rs2152757260,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+32G>A,,c.5467+32G>A,intron_variant,,,,1,832056,0.0000012018421836991741,0,0,,,3.81,,0.0800,-0.0900,-0.298,,,0,15782,0,0,0,978,0,0,0,5148,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,760932,0,0,,,,,0,16444,0,0,0,27254,0,0 -17-43047612-C-A,17,43047612,rs1195023014,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+31G>T,,c.5467+31G>T,intron_variant,,,,1,628758,0.0000015904370202844338,0,0,,,2.11,,0.0100,-0.0100,0.0450,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047621-C-G,17,43047621,rs779046757,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+22G>C,,c.5467+22G>C,intron_variant,Likely benign,372004,,11,1461696,0.000007525504619291562,0,0,,,0.0710,,0.0200,0.00,-0.219,,,0,33480,0,0,0,44724,0,0,11,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1111824,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43047621-C-CA,17,43047621,rs1567757768,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+21dup,,c.5467+21dup,intron_variant,,,,13,1461696,0.000008893778186435483,0,0,nfe,0.00000652,4.25,,0.0300,0.0100,-0.219,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,13,1111824,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43047622-A-G,17,43047622,rs2050971311,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+21T>C,,c.5467+21T>C,intron_variant,not provided,868547,,1,152254,0.000006567971941623865,0,0,,,7.66,,0.0100,-0.0100,0.201,,,0,41458,0,0,0,15286,0,0,0,3472,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43047623-G-A,17,43047623,rs2050971586,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+20C>T,,c.5467+20C>T,intron_variant,not provided,868545,,2,1461784,0.0000013681911965105651,0,0,,,0.184,,0.0600,0.00,0.252,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111916,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43047626-A-G,17,43047626,rs1267019068,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+17T>C,,c.5467+17T>C,intron_variant,not provided,867551,,1,833048,0.0000012004110207334991,0,0,,,0.670,,0.0300,-0.0800,-1.60,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761844,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047628-A-C,17,43047628,rs1231236572,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+15T>G,,c.5467+15T>G,intron_variant,Likely benign,864893,,2,628770,0.000003180813333969496,0,0,nfe,9.5e-7,8.20,,0.480,0.210,-0.117,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047629-T-C,17,43047629,rs886052974,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+14A>G,,c.5467+14A>G,intron_variant,Conflicting interpretations of pathogenicity,323420,,10,1461842,0.000006840684560985387,0,0,nfe,0.0000031,2.09,,0.00,0.00,-0.292,,,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,8,1111968,0,0,,,,,0,86258,0,0,1,60394,0,0 -17-43047631-C-T,17,43047631,rs991060806,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+12G>A,,c.5467+12G>A,intron_variant,Likely benign,381399,,1,833074,0.0000012003735562507052,0,0,,,0.483,,0.0400,-0.0200,-0.336,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761870,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047634-G-A,17,43047634,rs80358031,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+9C>T,,c.5467+9C>T,intron_variant,Benign/Likely benign,125853,,14,1461850,0.000009576905975305264,0,0,nfe,0.00000652,2.92,,0.00,-0.0200,0.146,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,13,1111976,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43047635-C-T,17,43047635,rs80358062,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+8G>A,,c.5467+8G>A,splice_region_variant,Conflicting interpretations of pathogenicity,91651,,30,1614070,0.000018586554486484476,0,0,nfe,0.00001803,1.71,,0.620,0.180,-1.08,,,0,74926,0,0,0,60004,0,0,0,29606,0,0,0,44904,0,0,0,64024,0,0,0,6084,0,0,30,1180038,0,0,0,908,0,0,0,91092,0,0,0,62484,0,0 -17-43047635-C-A,17,43047635,rs80358062,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+8G>T,,c.5467+8G>T,splice_region_variant,not provided,55587,,1,1461870,6.840553537592262e-7,0,0,,,0.124,,0.00,0.00,-1.08,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53420,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86258,0,0,0,60392,0,0 -17-43047637-C-G,17,43047637,rs2050974173,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+6G>C,,c.5467+6G>C,intron_variant,Uncertain significance,867538,,1,833108,0.0000012003245677631232,0,0,,,0.0250,,0.00,0.00,0.156,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047639-T-A,17,43047639,rs1555574692,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+4A>T,,c.5467+4A>T,intron_variant,not provided,864881,,1,628772,0.0000015904016082141062,0,0,,,22.2,,0.370,-0.470,4.70,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33094,0,0 -17-43047641-A-G,17,43047641,rs80358009,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+2T>C,,c.5467+2T>C,splice_donor_variant,Pathogenic/Likely pathogenic,125851,,1,152212,0.000006569784248285286,0,0,,,32.0,,0.950,-0.730,4.69,,,0,41468,0,0,0,15282,0,0,0,3470,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43047642-C-T,17,43047642,rs80358145,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+1G>A,,c.5467+1G>A,splice_donor_variant,Pathogenic/Likely pathogenic,37673,,2,780976,0.0000025608981582020447,0,0,,,33.0,,0.950,-0.730,7.09,,,1,59146,0,0,0,59020,0,0,0,24454,0,0,1,41268,0,0,0,63756,0,0,0,4464,0,0,0,418138,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 -17-43047644-A-G,17,43047644,rs886052975,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys694Arg,p.Cys694Arg,c.2080T>C,missense_variant,Likely benign,323421,,1,628780,0.0000015903813734533542,0,0,,,0.554,,0.00,0.00,-2.40,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,1,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047645-T-C,17,43047645,rs2050976068,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1822Arg,p.His1822Arg,c.5465A>G,missense_variant,Conflicting interpretations of pathogenicity,868521,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,2.63,0.543,0.130,-0.130,-0.440,0.940,0.0570,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047646-G-T,17,43047646,rs2050976551,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1822Asn,p.His1822Asn,c.5464C>A,missense_variant,not provided,868517,,1,833104,0.0000012003303309070656,0,0,,,16.8,0.351,0.00,0.00,4.89,0.140,0.523,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047651-C-A,17,43047651,rs2050978714,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1820Val,p.Gly1820Val,c.5459G>T,missense_variant,Uncertain significance,865546,,1,833110,0.0000012003216862119048,0,0,,,19.7,0.597,0.00,0.00,1.30,0.00,0.985,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047652-C-T,17,43047652,rs398122698,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp691Ter,p.Trp691Ter,c.2072G>A,stop_gained,Conflicting interpretations of pathogenicity,91650,lof_flag,1,628780,0.0000015903813734533542,0,0,,,21.3,0.436,0.100,-0.210,1.04,0.150,0.291,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047653-A-G,17,43047653,rs1597799334,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp691Arg,p.Trp691Arg,c.2071T>C,missense_variant,Likely benign,757995,,1,833108,0.0000012003245677631232,0,0,,,1.85,,0.0600,0.0100,-0.0730,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43047654-T-C,17,43047654,rs80357286,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1819Ser,p.Asn1819Ser,c.5456A>G,missense_variant,Benign/Likely benign,55585,,106,1614076,0.00006567224839474721,0,0,eas,0.00008831999999999997,0.0860,0.421,0.0600,-0.190,-0.349,1.00,0.00,1,74934,0,0,1,60000,0,0,0,29606,0,0,8,44898,0,0,0,64030,0,0,0,6084,0,0,94,1180036,0,0,0,912,0,0,0,91092,0,0,2,62484,0,0 -17-43047658-C-T,17,43047658,rs2050981068,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1818Asn,p.Asp1818Asn,c.5452G>A,missense_variant,not provided,865532,,1,833110,0.0000012003216862119048,0,0,,,22.1,0.347,0.0600,-0.100,2.94,0.210,0.868,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047660-T-C,17,43047660,rs2050981907,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1817Gly,p.Glu1817Gly,c.5450A>G,missense_variant,not provided,867399,,1,152210,0.000006569870573549701,0,0,,,32.0,0.739,0.320,-0.370,3.71,,,0,41454,0,0,1,15276,0,0,0,3472,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43047661-C-G,17,43047661,rs80356868,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1817Gln,p.Glu1817Gln,c.5449G>C,missense_variant,not provided,867397,,1,152236,0.000006568748522031582,0,0,,,25.0,0.679,0.0500,-0.120,7.09,,,0,41458,0,0,0,15288,0,0,0,3472,0,0,0,5198,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43047665-C-A,17,43047665,rs397509284,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1815Cys,p.Trp1815Cys,c.5445G>T,missense_variant,not provided,868900,,1,833110,0.0000012003216862119048,0,0,,,31.0,0.745,0.0400,-0.160,8.87,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047666-C-T,17,43047666,rs80356962,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Trp1815Ter,p.Trp1815Ter,c.5444G>A,stop_gained,Pathogenic,55580,,4,1614094,0.0000024781704163450208,0,0,,,48.0,,0.280,-0.580,8.87,,,0,74918,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64042,0,0,1,6084,0,0,1,1180050,0,0,0,912,0,0,0,91086,0,0,2,62488,0,0 -17-43047666-C-G,17,43047666,rs80356962,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1815Ser,p.Trp1815Ser,c.5444G>C,missense_variant,Uncertain significance,566786,,3,1461892,0.0000020521351782484616,0,0,nfe,7.200000000000001e-7,28.4,0.773,0.0200,0.00,8.87,0.00,1.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047669-G-A,17,43047669,rs1398117278,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1814Val,p.Ala1814Val,c.5441C>T,missense_variant,not provided,865520,,1,152192,0.000006570647603027754,0,0,,,28.2,0.738,0.0200,-0.0600,8.76,,,0,41446,0,0,0,15280,0,0,0,3472,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43047669-G-GC,17,43047669,rs1057517637,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1814GlyfsTer16,p.Ala1814GlyfsTer16,c.5440dup,frameshift_variant,Pathogenic/Likely pathogenic,372068,,1,628780,0.0000015903813734533542,0,0,,,34.0,,0.170,-0.330,8.76,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43047669-G-T,17,43047669,rs1398117278,G,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys685Ter,p.Cys685Ter,c.2055C>A,stop_gained,Uncertain significance,825736,lof_flag,1,628780,0.0000015903813734533542,0,0,,,27.7,0.731,0.0300,0.00,8.76,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047670-C-T,17,43047670,rs2050984571,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1814Thr,p.Ala1814Thr,c.5440G>A,missense_variant,not provided,865516,,1,628774,0.0000015903965494756462,0,0,,,25.5,0.618,0.0200,-0.0600,3.50,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4146,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047671-A-G,17,43047671,rs760396669,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys685Arg,p.Cys685Arg,c.2053T>C,missense_variant,Likely benign,230363,,10,1461890,0.000006840459952527208,0,0,sas,0.000015830000000000003,1.08,,0.0400,0.00,-2.54,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,6,1112010,0,0,,,,,4,86258,0,0,0,60396,0,0 -17-43047673-C-T,17,43047673,rs1303996018,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1813Asn,p.Asp1813Asn,c.5437G>A,missense_variant,Likely benign,865508,,3,1461888,0.000002052140793275545,0,0,nfe,7.200000000000001e-7,25.1,0.489,0.0500,-0.140,6.75,0.00,0.489,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047675-G-C,17,43047675,rs2050986502,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1812Arg,p.Pro1812Arg,c.5435C>G,missense_variant,not provided,865503,,1,628780,0.0000015903813734533542,0,0,,,27.1,0.751,0.0300,0.00,7.00,0.00,0.802,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047676-G-C,17,43047676,rs1800751,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1812Ala,p.Pro1812Ala,c.5434C>G,missense_variant,Pathogenic/Likely pathogenic,37670,,1,628778,0.0000015903864320952704,0,0,,,26.3,0.639,0.180,-0.200,5.83,0.00,0.00600,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047678-T-G,17,43047678,rs80357040,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Pro,p.Gln1811Pro,c.5432A>C,missense_variant,not provided,868483,,1,1461888,6.840469310918484e-7,0,0,,,27.1,0.714,0.0300,0.0400,3.73,0.00,0.979,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047678-T-C,17,43047678,rs80357040,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Arg,p.Gln1811Arg,c.5432A>G,missense_variant,Likely pathogenic,55578,,1,1461888,6.840469310918484e-7,0,0,,,26.4,0.709,0.0300,0.0100,3.73,0.00,0.955,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047679-G-A,17,43047679,rs397509283,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Ter,p.Gln1811Ter,c.5431C>T,stop_gained,Pathogenic,55577,,1,833106,0.0000012003274493281767,0,0,,,45.0,,0.410,-0.520,4.94,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43047680-C-T,17,43047680,rs786201582,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Ala682Thr,p.Ala682Thr,c.2044G>A,missense_variant,Likely benign,184631,,19,1461888,0.000012996891690745119,0,0,sas,0.00008884999999999999,8.79,,0.0100,-0.0700,0.278,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,4,1112008,0,0,,,,,13,86258,0,0,1,60396,0,0 -17-43047681-A-G,17,43047681,rs80357451,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1810Ala,p.Val1810Ala,c.5429T>C,missense_variant,Conflicting interpretations of pathogenicity,185996,,8,1614134,0.000004956218009161569,0,0,afr,0.00004371999999999999,25.3,0.725,0.0100,0.00,3.72,0.00,0.0980,7,74942,0,0,0,60012,0,0,0,29606,0,0,0,44902,0,0,0,64050,0,0,0,6084,0,0,0,1180050,0,0,0,912,0,0,0,91090,0,0,1,62486,0,0 -17-43047682-C-G,17,43047682,rs2050988927,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1810Leu,p.Val1810Leu,c.5428G>C,missense_variant,Uncertain significance,867386,,1,628774,0.0000015903965494756462,0,0,,,16.2,0.677,0.0200,0.0200,-0.334,0.0400,0.140,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047690-A-G,17,43047690,rs2050991229,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1807Thr,p.Ile1807Thr,c.5420T>C,missense_variant,Likely pathogenic,868478,,1,628754,0.0000015904471383084641,0,0,,,24.8,0.633,0.0200,0.00,6.31,0.00,0.187,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43047691-T-C,17,43047691,rs786202721,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1807Val,p.Ile1807Val,c.5419A>G,missense_variant,Conflicting interpretations of pathogenicity,186137,,4,1461884,0.0000027361952111111416,0,0,afr,0.00000989,0.0230,0.495,0.0200,-0.0200,-6.44,1.00,0.00,2,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86258,0,0,1,60394,0,0 -17-43047694-G-C,17,43047694,rs80357241,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1806Ala,p.Pro1806Ala,c.5416C>G,missense_variant,Conflicting interpretations of pathogenicity,55570,,15,1613996,0.000009293703330119777,0,0,sas,0.00003586999999999999,2.62,0.473,0.00,0.00,0.751,0.430,0.00,0,74890,0,0,5,59994,0,0,0,29604,0,0,0,44892,0,0,0,64024,0,0,0,6084,0,0,3,1180028,0,0,0,912,0,0,7,91080,0,0,0,62488,0,0 -17-43047695-G-A,17,43047695,rs1060504559,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Pro677Ser,p.Pro677Ser,c.2029C>T,missense_variant,Likely benign,415554,,4,1614068,0.000002478210335624026,0,0,nfe,7.899999999999998e-7,0.151,,0.00,0.00,-0.672,,,0,74922,0,0,0,60006,0,0,0,29606,0,0,0,44898,0,0,0,64028,0,0,0,6084,0,0,4,1180036,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43047697-G-A,17,43047697,rs587782873,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1805Tyr,p.His1805Tyr,c.5413C>T,missense_variant,Uncertain significance,142988,,1,833094,0.0000012003447390090433,0,0,,,22.1,0.458,0.00,0.00,4.14,0.0300,0.296,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43047698-G-A,17,43047698,rs730881456,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Pro676Ser,p.Pro676Ser,c.2026C>T,missense_variant,Likely benign,182098,,15,1614066,0.000009293300273966493,0,0,amr,0.00001327,1.14,,0.0400,-0.100,1.05,,,0,74928,0,0,3,60000,0,0,0,29606,0,0,0,44896,0,0,0,64032,0,0,0,6084,0,0,10,1180034,0,0,0,912,0,0,0,91084,0,0,2,62490,0,0 -17-43047699-A-T,17,43047699,rs80356920,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Cys675Ter,p.Cys675Ter,c.2025T>A,stop_gained,Benign,55568,lof_flag,121,1614188,0.00007496028963169099,0,0,amr,0.00041624000000000023,15.7,0.445,0.00,0.0300,2.21,0.0400,0.00,0,75054,0,0,34,60018,0,0,23,29606,0,0,0,44884,0,0,0,64040,0,0,0,6062,0,0,56,1180020,0,0,0,912,0,0,0,91082,0,0,8,62510,0,0 -17-43047701-A-C,17,43047701,rs2050995166,A,C,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys675Gly,p.Cys675Gly,c.2023T>G,missense_variant,not provided,868464,,1,1461864,6.840581613611115e-7,0,0,,,5.90,,0.110,-0.170,-1.42,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53412,0,0,0,5768,0,0,0,1111992,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047702-C-G,17,43047702,rs80357149,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Ala,p.Gly1803Ala,c.5408G>C,missense_variant,Pathogenic/Likely pathogenic,37668,,1,1461856,6.840619048661428e-7,0,0,,,1.34,0.519,0.00,-0.0600,0.0180,0.140,0.0480,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53406,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60392,0,0 -17-43047702-C-T,17,43047702,rs80357149,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1803Asp,p.Gly1803Asp,c.5408G>A,missense_variant,Uncertain significance,868461,,1,152184,0.000006570993008463439,0,0,,,2.36,0.539,0.00,0.0100,0.0180,,,0,41438,0,0,0,15278,0,0,0,3470,0,0,1,5196,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43047702-C-A,17,43047702,rs80357149,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Val,p.Gly1803Val,c.5408G>T,missense_variant,Uncertain significance,628196,,1,1461856,6.840619048661428e-7,0,0,,,9.86,0.558,0.00,0.00,0.0180,0.00,0.0390,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53406,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60392,0,0 -17-43047703-C-A,17,43047703,rs876659510,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Cys,p.Gly1803Cys,c.5407G>T,missense_variant,Conflicting interpretations of pathogenicity,651964,,8,1461856,0.000005472495238929142,0,0,nfe,0.0000031,29.6,0.623,0.130,-0.330,2.02,0.00,0.828,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,8,1111990,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047703-C-T,17,43047703,rs876659510,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Ser,p.Gly1803Ser,c.5407G>A,missense_variant,Uncertain significance,232037,,1,1461856,6.840619048661428e-7,0,0,,,24.2,0.547,0.0900,-0.280,2.02,0.0100,0.147,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43047703-C-G,17,43047703,rs876659510,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1803Arg,p.Gly1803Arg,c.5407G>C,missense_variant,not provided,868074,,1,152140,0.000006572893387669252,0,0,,,24.3,0.562,0.0700,-0.270,2.02,,,1,41424,0,0,0,15262,0,0,0,3472,0,0,0,5188,0,0,0,10610,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43047704-C-T,17,43047704,rs80358029,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-1G>A,,c.5407-1G>A,splice_acceptor_variant,Pathogenic,125845,,1,833102,0.0000012003332124997898,0,0,,,33.0,,0.910,-0.680,8.87,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43047707-G-C,17,43047707,rs876660347,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-4C>G,,c.5407-4C>G,splice_region_variant,Conflicting interpretations of pathogenicity,233348,,13,1461814,0.00000889306026621718,0,0,nfe,0.00000575,0.152,,0.00,0.00,-0.459,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,12,1111954,0,0,,,,,0,86256,0,0,1,60394,0,0 -17-43047712-C-T,17,43047712,rs551078372,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-9G>A,,c.5407-9G>A,intron_variant,Uncertain significance,531443,,1,152260,0.000006567713122290818,0,0,,,23.4,,0.890,0.530,2.25,,,1,41564,0,0,0,15282,0,0,0,3472,0,0,0,5174,0,0,0,10622,0,0,0,294,0,0,0,68008,0,0,0,912,0,0,0,4820,0,0,0,2112,0,0 -17-43047715-G-A,17,43047715,rs1432221089,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-12C>T,,c.5407-12C>T,intron_variant,not provided,868068,,3,780802,0.000003842203273044895,0,0,,,9.17,,0.00,0.00,1.40,,,1,59144,0,0,1,58998,0,0,0,24446,0,0,0,41260,0,0,0,63740,0,0,0,4464,0,0,0,418046,0,0,0,912,0,0,0,74612,0,0,1,35180,0,0 -17-43047718-A-G,17,43047718,rs1482222810,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-15T>C,,c.5407-15T>C,intron_variant,Likely benign,1657896,,1,628600,0.000001590836780146357,0,0,,,17.0,,0.0900,-0.0900,3.54,,,0,17694,0,0,1,43732,0,0,0,20978,0,0,0,36068,0,0,0,53120,0,0,0,4148,0,0,0,349988,0,0,,,,,0,69788,0,0,0,33084,0,0 -17-43047719-G-A,17,43047719,rs587776493,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-16C>T,,c.5407-16C>T,intron_variant,Likely benign,156197,,14,985214,0.000014210110696762328,0,0,nfe,0.00000979,15.3,,0.00,0.00,0.734,,,0,57232,0,0,0,16264,0,0,0,8620,0,0,0,8824,0,0,0,10888,0,0,0,1936,0,0,14,829868,0,0,0,912,0,0,0,21284,0,0,0,29386,0,0 -17-43047720-G-C,17,43047720,rs867576129,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-17C>G,,c.5407-17C>G,intron_variant,Likely benign,749358,,1,1461600,6.841817186644772e-7,0,0,,,16.1,,0.220,-0.270,1.13,,,0,33476,0,0,0,44716,0,0,0,26128,0,0,0,39696,0,0,0,53400,0,0,0,5768,0,0,1,1111794,0,0,,,,,0,86246,0,0,0,60376,0,0 -17-43047723-A-G,17,43047723,rs1156875493,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-20T>C,,c.5407-20T>C,intron_variant,Likely benign,1093939,,1,628584,0.0000015908772733636235,0,0,,,18.7,,0.350,-0.370,3.63,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,1,349978,0,0,,,,,0,69788,0,0,0,33082,0,0 -17-43047724-G-C,17,43047724,rs273901768,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-21C>G,,c.5407-21C>G,intron_variant,Likely benign,433735,,9,1461542,0.000006157879828290942,0,0,nfe,0.0000031,2.11,,0.0700,-0.0900,-0.0770,,,1,33476,0,0,0,44716,0,0,0,26126,0,0,0,39694,0,0,0,53390,0,0,0,5768,0,0,8,1111758,0,0,,,,,0,86246,0,0,0,60368,0,0 -17-43047726-G-A,17,43047726,rs1262115234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-23C>T,,c.5407-23C>T,intron_variant,Likely benign,1325648,,1,1461324,6.843109399421347e-7,0,0,,,3.97,,0.00,0.00,0.564,,,0,33466,0,0,0,44714,0,0,0,26128,0,0,0,39692,0,0,0,53392,0,0,0,5768,0,0,0,1111560,0,0,,,,,1,86244,0,0,0,60360,0,0 -17-43047728-A-T,17,43047728,rs758780152,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-25T>A,,c.5407-25T>A,intron_variant,Conflicting interpretations of pathogenicity,371817,,5,1613290,0.0000030992567982197867,0,0,nfe,0.0000012399999999999998,14.4,,0.410,-0.510,1.17,,,0,74908,0,0,0,59994,0,0,0,29596,0,0,0,44878,0,0,0,64012,0,0,0,6084,0,0,5,1179398,0,0,0,912,0,0,0,91072,0,0,0,62436,0,0 -17-43047728-A-G,17,43047728,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-25T>C,,c.5407-25T>C,intron_variant,,,,1,1461098,6.844167879225076e-7,0,0,,,9.97,,0.0600,-0.130,1.17,,,0,33454,0,0,0,44720,0,0,0,26128,0,0,0,39688,0,0,0,53392,0,0,0,5768,0,0,1,1111364,0,0,,,,,0,86242,0,0,0,60342,0,0 -17-43047732-A-C,17,43047732,rs367978134,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-29T>G,,c.5407-29T>G,intron_variant,,,,5,1612156,0.000003101436833656296,0,0,afr,0.00000443,8.21,,0.110,-0.230,-0.923,,,2,74872,0,0,1,59996,0,0,0,29594,0,0,0,44868,0,0,0,63998,0,0,0,6084,0,0,2,1178358,0,0,0,910,0,0,0,91054,0,0,0,62422,0,0 -17-43047735-G-A,17,43047735,rs750565541,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-32C>T,,c.5407-32C>T,intron_variant,,,,39,1612026,0.00002419315817486815,0,0,afr,0.00001747,2.36,,0.00,0.00,-1.50,,,4,74848,0,0,0,59988,0,0,0,29590,0,0,0,44868,0,0,32,63988,0,0,0,6082,0,0,2,1178294,0,0,0,910,0,0,0,91040,0,0,1,62418,0,0 -17-43047735-G-T,17,43047735,rs750565541,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-32C>A,,c.5407-32C>A,intron_variant,,,,1,1459876,6.849896840553581e-7,0,0,,,1.93,,0.00,-0.0200,-1.50,,,0,33412,0,0,0,44718,0,0,0,26118,0,0,0,39676,0,0,0,53374,0,0,0,5766,0,0,1,1110268,0,0,,,,,0,86220,0,0,0,60324,0,0 -17-43047737-G-A,17,43047737,rs756361151,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-34C>T,,c.5407-34C>T,intron_variant,,,,13,1457224,0.00000892107184619523,0,0,nfe,0.00000655,3.81,,0.0500,-0.0700,0.191,,,0,33378,0,0,0,44714,0,0,0,26108,0,0,0,39656,0,0,0,53366,0,0,0,5764,0,0,13,1107836,0,0,,,,,0,86158,0,0,0,60244,0,0 -17-43047743-G-A,17,43047743,rs1481500363,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-40C>T,,c.5407-40C>T,intron_variant,,,,1,1451714,6.888409149460569e-7,0,0,,,3.14,,0.00,0.00,0.140,,,0,33270,0,0,0,44700,0,0,0,26084,0,0,0,39628,0,0,0,53338,0,0,0,5752,0,0,1,1102810,0,0,,,,,0,86064,0,0,0,60068,0,0 -17-43047744-T-C,17,43047744,rs1040478746,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-41A>G,,c.5407-41A>G,intron_variant,,,,1,821544,0.0000012172202584402053,0,0,,,0.550,,0.00,0.00,-0.327,,,0,15540,0,0,0,968,0,0,0,5098,0,0,0,3564,0,0,0,276,0,0,0,1596,0,0,1,751356,0,0,,,,,0,16240,0,0,0,26906,0,0 -17-43047746-G-A,17,43047746,rs2152818829,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-43C>T,,c.5407-43C>T,intron_variant,,,,1,1446344,6.913984501612342e-7,0,0,,,6.81,,0.00,0.00,1.19,,,0,33128,0,0,0,44682,0,0,0,26026,0,0,0,39598,0,0,0,53312,0,0,0,5742,0,0,0,1098006,0,0,,,,,1,85948,0,0,0,59902,0,0 -17-43047749-CT-C,17,43047749,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-47del,,c.5407-47del,intron_variant,,,,1,628354,0.0000015914595912495185,0,0,,,4.18,,0.00,-0.220,1.30,,,0,17672,0,0,0,43718,0,0,0,20960,0,0,1,36054,0,0,0,53038,0,0,0,4148,0,0,0,349896,0,0,,,,,0,69790,0,0,0,33078,0,0 -17-43047750-T-G,17,43047750,rs1176847500,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-47A>C,,c.5407-47A>C,intron_variant,,,,1,628416,0.0000015913025766371322,0,0,,,8.03,,0.00,-0.0600,0.891,,,0,17676,0,0,0,43716,0,0,0,20968,0,0,0,36054,0,0,0,53046,0,0,0,4148,0,0,0,349936,0,0,,,,,1,69788,0,0,0,33084,0,0 -17-43047752-C-G,17,43047752,rs2152819710,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-49G>C,,c.5407-49G>C,intron_variant,,,,1,628218,0.0000015918041189523383,0,0,,,0.00500,,0.00,-0.0100,-4.86,,,0,17664,0,0,0,43702,0,0,0,20968,0,0,1,36048,0,0,0,53008,0,0,0,4146,0,0,0,349828,0,0,,,,,0,69784,0,0,0,33070,0,0 -17-43047753-T-G,17,43047753,rs1435317366,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-50A>C,,c.5407-50A>C,intron_variant,,,,1,152162,0.000006571943060685322,0,0,,,3.57,,0.00,-0.0100,0.514,,,1,41444,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10616,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43047754-G-A,17,43047754,rs2152819983,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-51C>T,,c.5407-51C>T,intron_variant,,,,1,807544,0.000001238322617714948,0,0,,,0.911,,0.00,0.00,0.0440,,,0,15242,0,0,0,952,0,0,0,5002,0,0,0,3478,0,0,0,274,0,0,0,1570,0,0,0,738664,0,0,,,,,0,15908,0,0,1,26454,0,0 -17-43047758-C-A,17,43047758,rs2152820535,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-55G>T,,c.5407-55G>T,intron_variant,,,,1,1428170,7.00196755288236e-7,0,0,,,0.00200,,0.00,0.00,-4.44,,,0,32770,0,0,0,44624,0,0,1,25876,0,0,0,39498,0,0,0,53210,0,0,0,5700,0,0,0,1081648,0,0,,,,,0,85518,0,0,0,59326,0,0 -17-43047760-G-A,17,43047760,rs2152820688,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-57C>T,,c.5407-57C>T,intron_variant,,,,1,796670,0.000001255224873536094,0,0,,,11.8,,0.00,0.00,0.812,,,0,15022,0,0,0,932,0,0,0,4932,0,0,0,3444,0,0,0,270,0,0,0,1548,0,0,1,728748,0,0,,,,,0,15652,0,0,0,26122,0,0 -17-43047761-T-C,17,43047761,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-58A>G,,c.5407-58A>G,intron_variant,,,,1,627726,0.0000015930517455067976,0,0,,,11.3,,0.00,-0.0500,0.200,,,0,17662,0,0,0,43624,0,0,0,20946,0,0,1,36046,0,0,0,52854,0,0,0,4146,0,0,0,349644,0,0,,,,,0,69758,0,0,0,33046,0,0 -17-43047765-T-C,17,43047765,rs2152821423,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-62A>G,,c.5407-62A>G,intron_variant,,,,2,795378,0.0000025145276836925337,0,0,nfe,4.6000000000000004e-7,0.193,,0.00,-0.0200,-6.78,,,0,14946,0,0,0,916,0,0,0,4924,0,0,0,3436,0,0,0,270,0,0,0,1536,0,0,2,727660,0,0,,,,,0,15640,0,0,0,26050,0,0 -17-43047766-T-C,17,43047766,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-63A>G,,c.5407-63A>G,intron_variant,,,,1,626596,0.0000015959246468218757,0,0,,,9.64,,0.00,-0.0300,0.00900,,,0,17624,0,0,0,43524,0,0,0,20912,0,0,0,36022,0,0,0,52720,0,0,0,4142,0,0,1,348960,0,0,,,,,0,69714,0,0,0,32978,0,0 -17-43047768-A-T,17,43047768,rs960072819,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-65T>A,,c.5407-65T>A,intron_variant,,,,1,151958,0.000006580765737901262,0,0,,,8.45,,0.00,-0.0400,-0.0280,,,0,41370,0,0,0,15250,0,0,0,3470,0,0,0,5162,0,0,0,10596,0,0,0,316,0,0,1,67970,0,0,0,912,0,0,0,4826,0,0,0,2086,0,0 -17-43047770-C-A,17,43047770,rs2152821830,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-67G>T,,c.5407-67G>T,intron_variant,,,,1,625184,0.0000015995290986333623,0,0,,,7.05,,0.00,0.00,-0.915,,,0,17598,0,0,0,43372,0,0,0,20854,0,0,0,35962,0,0,0,52508,0,0,0,4136,0,0,1,348202,0,0,,,,,0,69636,0,0,0,32916,0,0 -17-43047770-C-T,17,43047770,rs2152821830,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-67G>A,,c.5407-67G>A,intron_variant,,,,1,151996,0.000006579120503171136,0,0,,,7.64,,0.00,0.00,-0.915,,,0,41392,0,0,0,15258,0,0,0,3466,0,0,1,5164,0,0,0,10604,0,0,0,316,0,0,0,67974,0,0,0,912,0,0,0,4826,0,0,0,2084,0,0 -17-43047771-AT-A,17,43047771,rs376647498,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-69del,,c.5407-69del,intron_variant,,,,87,1559854,0.00005577445068576931,0,0,nfe,0.00005238,2.08,,0.00,-0.0100,0.269,,,2,73518,0,0,3,59446,0,0,0,29096,0,0,4,44458,0,0,0,63176,0,0,0,5970,0,0,73,1132694,0,0,0,912,0,0,2,89874,0,0,3,60710,0,0 -17-43047771-A-AT,17,43047771,rs376647498,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69dup,,c.5407-69dup,intron_variant,,,,37,1409040,0.000026259013228865042,0,0,nfe,0.00001735,4.24,,0.00,0.00,0.269,,,1,32274,0,0,1,44250,0,0,0,25660,0,0,2,39356,0,0,1,52672,0,0,0,5654,0,0,27,1065434,0,0,,,,,1,85076,0,0,4,58664,0,0 -17-43047771-A-C,17,43047771,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-68T>G,,c.5407-68T>G,intron_variant,,,,1,1409124,7.096607537732662e-7,0,0,,,7.47,,0.00,-0.0400,0.269,,,0,32274,0,0,0,44250,0,0,0,25662,0,0,0,39356,0,0,0,52678,0,0,0,5656,0,0,1,1065498,0,0,,,,,0,85082,0,0,0,58668,0,0 -17-43047772-T-C,17,43047772,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69A>G,,c.5407-69A>G,intron_variant,,,,1,1352416,7.394174573504011e-7,0,0,,,6.62,,0.00,-0.0100,0.270,,,0,31100,0,0,0,43510,0,0,0,25090,0,0,0,38518,0,0,0,51246,0,0,0,5526,0,0,1,1017244,0,0,,,,,0,83748,0,0,0,56434,0,0 -17-43047772-T-A,17,43047772,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69A>T,,c.5407-69A>T,intron_variant,,,,2,1352416,0.0000014788349147008022,0,0,nfe,3.3e-7,5.84,,0.00,-0.0100,0.270,,,0,31100,0,0,0,43510,0,0,0,25090,0,0,0,38518,0,0,0,51246,0,0,0,5526,0,0,2,1017244,0,0,,,,,0,83748,0,0,0,56434,0,0 -17-43047773-T-G,17,43047773,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-70A>C,,c.5407-70A>C,intron_variant,,,,1,787024,0.0000012706092825631748,0,0,,,7.28,,0.00,-0.0400,0.270,,,0,14800,0,0,0,916,0,0,0,4856,0,0,0,3428,0,0,0,264,0,0,0,1532,0,0,0,719878,0,0,,,,,1,15498,0,0,0,25852,0,0 -17-43047776-TTTTG-T,17,43047776,rs2051000818,TTTTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-77_5407-74del,,c.5407-77_5407-74del,intron_variant,,,,12,1380090,0.000008695085103145446,0,0,nfe,0.00000407,3.49,,0.00,0.0100,-2.07,,,0,31668,0,0,0,43348,0,0,0,25472,0,0,0,39046,0,0,0,51664,0,0,1,5576,0,0,9,1041502,0,0,,,,,2,84146,0,0,0,57668,0,0 -17-43047776-T-G,17,43047776,rs1267083930,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-73A>C,,c.5407-73A>C,intron_variant,Likely benign,433736,,20,1532210,0.000013053041032234485,0,0,amr,0.000022920000000000004,8.79,,0.00,-0.0200,-2.07,,,1,73096,0,0,4,58614,0,0,0,28942,0,0,0,44228,0,0,0,62278,0,0,0,5892,0,0,13,1109508,0,0,0,912,0,0,1,88978,0,0,1,59762,0,0 -17-43047778-T-C,17,43047778,rs2051000978,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-75A>G,,c.5407-75A>G,intron_variant,,,,16,1534052,0.000010429894162648984,0,0,sas,0.00011207999999999998,5.85,,0.0100,-0.0200,0.415,,,0,73130,0,0,0,58658,0,0,0,28950,0,0,0,44234,0,0,0,62306,0,0,0,5894,0,0,0,1111134,0,0,0,912,0,0,16,89030,0,0,0,59804,0,0 -17-43049048-C-T,17,43049048,rs1157983067,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5406+73G>A,,c.5406+73G>A,intron_variant,,,,4,152168,0.00002628673571315914,0,0,amr,0.00008876999999999992,2.50,,0.0100,0.0200,0.486,,,0,41448,0,0,4,15282,0,0,0,3468,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43049051-A-G,17,43049051,rs2152900021,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+70T>C,,c.5406+70T>C,intron_variant,,,,1,1290836,7.746917501526143e-7,0,0,,,5.25,,0.00,0.0100,0.632,,,0,29976,0,0,0,42458,0,0,0,24834,0,0,0,38776,0,0,0,52628,0,0,0,5426,0,0,0,960806,0,0,,,,,1,81042,0,0,0,54890,0,0 -17-43049052-C-T,17,43049052,rs2051064330,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+69G>A,,c.5406+69G>A,intron_variant,,,,1,1319820,7.576790774499553e-7,0,0,,,0.567,,0.00,0.00,-1.64,,,0,30578,0,0,0,42562,0,0,0,25016,0,0,0,38894,0,0,0,52662,0,0,0,5502,0,0,1,987236,0,0,,,,,0,81644,0,0,0,55726,0,0 -17-43049052-C-G,17,43049052,rs2051064330,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+69G>C,,c.5406+69G>C,intron_variant,,,,2,1471970,0.0000013587233435464039,0,0,,,0.434,,0.00,0.00,-1.64,,,1,72006,0,0,0,57828,0,0,0,28488,0,0,0,44096,0,0,0,63270,0,0,0,5818,0,0,1,1055266,0,0,0,912,0,0,0,86470,0,0,0,57816,0,0 -17-43049053-AG-A,17,43049053,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+67del,,c.5406+67del,intron_variant,,,,1,1321048,7.569747654892177e-7,0,0,,,4.57,,0.00,0.00,-0.365,,,0,30610,0,0,0,42764,0,0,0,25036,0,0,0,38924,0,0,0,52702,0,0,0,5508,0,0,0,987956,0,0,,,,,0,81770,0,0,1,55778,0,0 -17-43049053-A-G,17,43049053,rs8176307,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+68T>C,,c.5406+68T>C,intron_variant,Benign,125842,,2744,1473338,0.0018624375397905978,33,0,afr,0.031964730000000004,3.03,,0.00,0.0200,-0.365,,,2387,72178,31,0,139,58054,2,0,2,28508,0,0,0,44112,0,0,0,63326,0,0,10,5802,0,0,55,1055964,0,0,0,912,0,0,7,86590,0,0,144,57892,0,0 -17-43049055-G-T,17,43049055,rs2152900622,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+66C>A,,c.5406+66C>A,intron_variant,,,,2,692816,0.000002886769358675319,0,0,nfe,5.3e-7,4.89,,0.00,0.0100,0.384,,,0,12840,0,0,0,810,0,0,0,4350,0,0,0,2940,0,0,0,232,0,0,0,1342,0,0,2,633890,0,0,,,,,0,13640,0,0,0,22772,0,0 -17-43049056-T-G,17,43049056,rs1325470549,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+65A>C,,c.5406+65A>C,intron_variant,Likely benign,1275854,,64,1495336,0.00004279974534151522,0,0,nfe,0.00004677,9.92,,0.00,0.00,0.321,,,1,72416,0,0,0,58274,0,0,0,28662,0,0,0,44206,0,0,0,63336,0,0,0,5862,0,0,63,1075856,0,0,0,908,0,0,0,87154,0,0,0,58662,0,0 -17-43049056-T-A,17,43049056,rs1325470549,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+65A>T,,c.5406+65A>T,intron_variant,,,,1,1343246,7.444652729284137e-7,0,0,,,9.74,,0.00,0.00,0.321,,,0,31002,0,0,0,43004,0,0,0,25190,0,0,0,39014,0,0,0,52732,0,0,0,5546,0,0,1,1007858,0,0,,,,,0,82330,0,0,0,56570,0,0 -17-43049058-C-A,17,43049058,rs2152901037,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+63G>T,,c.5406+63G>T,intron_variant,,,,1,621140,0.0000016099430080175162,0,0,,,1.05,,0.00,0.00,0.200,,,0,17632,0,0,0,42414,0,0,0,20708,0,0,0,35966,0,0,0,52598,0,0,0,4124,0,0,1,346574,0,0,,,,,0,68236,0,0,0,32888,0,0 -17-43049059-C-T,17,43049059,rs1567758798,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+62G>A,,c.5406+62G>A,intron_variant,,,,1,741664,0.000001348319454631747,0,0,,,0.491,,0.00,0.00,-1.21,,,0,13778,0,0,0,878,0,0,0,4640,0,0,0,3158,0,0,0,246,0,0,0,1456,0,0,0,678566,0,0,,,,,0,14598,0,0,1,24344,0,0 -17-43049060-A-G,17,43049060,rs2051065094,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+61T>C,,c.5406+61T>C,intron_variant,,,,3,1367248,0.000002194188618304799,0,0,,,2.90,,0.00,0.0700,0.533,,,0,31452,0,0,0,43612,0,0,0,25420,0,0,1,39176,0,0,0,52960,0,0,0,5592,0,0,0,1028590,0,0,,,,,0,83072,0,0,2,57374,0,0 -17-43049061-G-A,17,43049061,rs2152901480,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+60C>T,,c.5406+60C>T,intron_variant,,,,1,623002,0.0000016051312836876929,0,0,,,2.51,,0.00,0.00,-0.149,,,0,17642,0,0,0,42754,0,0,0,20758,0,0,0,35990,0,0,0,52744,0,0,0,4140,0,0,1,347520,0,0,,,,,0,68510,0,0,0,32944,0,0 -17-43049063-C-G,17,43049063,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+58G>C,,c.5406+58G>C,intron_variant,,,,1,1390972,7.189217324288339e-7,0,0,,,5.63,,0.00,0.00,1.28,,,0,31942,0,0,0,43824,0,0,0,25570,0,0,0,39264,0,0,0,53072,0,0,0,5644,0,0,1,1049784,0,0,,,,,0,83756,0,0,0,58116,0,0 -17-43049063-C-T,17,43049063,rs2051065230,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+58G>A,,c.5406+58G>A,intron_variant,,,,3,1390972,0.000002156765197286502,0,0,nfe,7.600000000000001e-7,6.09,,0.00,0.00,1.28,,,0,31942,0,0,0,43824,0,0,0,25570,0,0,0,39264,0,0,0,53072,0,0,0,5644,0,0,3,1049784,0,0,,,,,0,83756,0,0,0,58116,0,0 -17-43049064-T-A,17,43049064,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+57A>T,,c.5406+57A>T,intron_variant,,,,1,624380,0.0000016015887760658572,0,0,,,3.03,,0.00,0.00,0.0800,,,0,17652,0,0,0,42996,0,0,0,20790,0,0,0,36012,0,0,0,52870,0,0,0,4138,0,0,1,348184,0,0,,,,,0,68754,0,0,0,32984,0,0 -17-43049065-T-C,17,43049065,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+56A>G,,c.5406+56A>G,intron_variant,,,,3,1396368,0.0000021484307861537934,0,0,nfe,7.600000000000001e-7,7.02,,0.00,0.0100,0.453,,,0,32048,0,0,0,43964,0,0,0,25632,0,0,0,39312,0,0,0,53132,0,0,0,5650,0,0,3,1054326,0,0,,,,,0,84016,0,0,0,58288,0,0 -17-43049066-G-A,17,43049066,rs2152901797,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+55C>T,,c.5406+55C>T,intron_variant,,,,1,770120,0.000001298498935230873,0,0,,,7.42,,0.00,0.0200,1.38,,,0,14372,0,0,0,898,0,0,0,4790,0,0,0,3296,0,0,0,262,0,0,0,1502,0,0,1,704570,0,0,,,,,0,15170,0,0,0,25260,0,0 -17-43049067-C-T,17,43049067,rs527352287,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+54G>A,,c.5406+54G>A,intron_variant,,,,2,1556752,0.0000012847261477743404,0,0,,,1.61,,0.00,0.0300,0.249,,,0,73756,0,0,0,59322,0,0,0,29162,0,0,0,44546,0,0,0,63792,0,0,0,5956,0,0,0,1129508,0,0,0,910,0,0,2,89132,0,0,0,60668,0,0 -17-43049068-T-A,17,43049068,rs273901766,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+53A>T,,c.5406+53A>T,intron_variant,Likely benign,125839,,1,625762,0.0000015980516554217098,0,0,,,3.61,,0.00,0.00,2.09,,,0,17662,0,0,0,43224,0,0,0,20856,0,0,0,36036,0,0,0,52952,0,0,0,4142,0,0,0,348848,0,0,,,,,0,69030,0,0,1,33012,0,0 -17-43049074-G-T,17,43049074,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+47C>A,,c.5406+47C>A,intron_variant,,,,1,1415634,7.063972750018719e-7,0,0,,,6.71,,0.00,0.0200,0.209,,,0,32396,0,0,0,44342,0,0,0,25824,0,0,0,39436,0,0,0,53286,0,0,0,5692,0,0,1,1070846,0,0,,,,,0,84894,0,0,0,58918,0,0 -17-43049075-A-T,17,43049075,rs779935143,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+46T>A,,c.5406+46T>A,intron_variant,,,,8,1422336,0.00000562455003599712,0,0,nfe,0.0000027000000000000004,5.43,,0.00,0.0100,0.481,,,0,32588,0,0,0,44388,0,0,0,25848,0,0,0,39486,0,0,0,53318,0,0,0,5706,0,0,7,1076822,0,0,,,,,0,85038,0,0,1,59142,0,0 -17-43049076-G-C,17,43049076,rs1432367884,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+45C>G,,c.5406+45C>G,intron_variant,,,,3,1423034,0.000002108171695124642,0,0,nfe,3.1e-7,0.194,,0.00,0.00,-0.774,,,1,32598,0,0,0,44410,0,0,0,25872,0,0,0,39494,0,0,0,53320,0,0,0,5706,0,0,2,1077408,0,0,,,,,0,85068,0,0,0,59158,0,0 -17-43049076-G-A,17,43049076,rs1432367884,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+45C>T,,c.5406+45C>T,intron_variant,,,,1,1423034,7.027238983748807e-7,0,0,,,0.232,,0.00,0.00,-0.774,,,0,32598,0,0,0,44410,0,0,0,25872,0,0,0,39494,0,0,0,53320,0,0,0,5706,0,0,1,1077408,0,0,,,,,0,85068,0,0,0,59158,0,0 -17-43049079-A-G,17,43049079,rs2051066072,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+42T>C,,c.5406+42T>C,intron_variant,,,,2,627728,0.0000031860933397904824,0,0,,,6.04,,0.00,0.0200,-0.300,,,1,17684,0,0,0,43538,0,0,0,20942,0,0,0,36064,0,0,0,53074,0,0,0,4146,0,0,0,349750,0,0,,,,,0,69454,0,0,1,33076,0,0 -17-43049081-T-C,17,43049081,rs1464941547,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+40A>G,,c.5406+40A>G,intron_variant,,,,4,1429918,0.0000027973632054425497,0,0,amr,0.000007450000000000001,0.912,,0.00,0.00,-0.662,,,0,32718,0,0,2,44518,0,0,0,25932,0,0,0,39534,0,0,0,53356,0,0,0,5724,0,0,1,1083414,0,0,,,,,1,85362,0,0,0,59360,0,0 -17-43049082-A-G,17,43049082,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+39T>C,,c.5406+39T>C,intron_variant,,,,1,805114,0.0000012420601306150433,0,0,,,4.19,,0.00,0.0400,0.0190,,,0,15110,0,0,0,948,0,0,0,5002,0,0,0,3486,0,0,0,270,0,0,0,1582,0,0,1,736440,0,0,,,,,0,15894,0,0,0,26382,0,0 -17-43049083-T-C,17,43049083,rs1716314954,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+38A>G,,c.5406+38A>G,intron_variant,,,,2,628020,0.0000031846119550332793,0,0,nfe,9.5e-7,0.0140,,0.00,0.00,-3.17,,,0,17692,0,0,0,43590,0,0,0,20956,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,2,349838,0,0,,,,,0,69562,0,0,0,33084,0,0 -17-43049083-TTG-T,17,43049083,rs2152903945,TTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36_5406+37del,,c.5406+36_5406+37del,intron_variant,,,,1,628020,0.0000015923059775166397,0,0,,,3.59,,0.00,0.0200,-3.17,,,0,17692,0,0,0,43590,0,0,0,20956,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,1,349838,0,0,,,,,0,69562,0,0,0,33084,0,0 -17-43049085-G-A,17,43049085,rs1291031991,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36C>T,,c.5406+36C>T,intron_variant,,,,1,1437258,6.957693051630257e-7,0,0,,,3.11,,0.00,0.00,0.0890,,,0,32884,0,0,0,44548,0,0,0,25978,0,0,0,39578,0,0,0,53350,0,0,0,5734,0,0,1,1090038,0,0,,,,,0,85554,0,0,0,59594,0,0 -17-43049085-G-T,17,43049085,rs1291031991,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36C>A,,c.5406+36C>A,intron_variant,,,,1,1437256,6.95770273354225e-7,0,0,,,2.56,,0.00,0.00,0.0890,,,0,32884,0,0,0,44548,0,0,0,25978,0,0,0,39578,0,0,0,53350,0,0,0,5734,0,0,0,1090036,0,0,,,,,1,85554,0,0,0,59594,0,0 -17-43049087-G-A,17,43049087,rs1167828270,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+34C>T,,c.5406+34C>T,intron_variant,Likely benign,923730,,28,1591248,0.000017596251495681376,0,0,nfe,0.00001594,3.93,,0.00,0.00,1.16,,,0,74386,0,0,0,59828,0,0,0,29466,0,0,0,44784,0,0,0,63962,0,0,0,6048,0,0,27,1159680,0,0,0,912,0,0,0,90438,0,0,1,61744,0,0 -17-43049088-T-A,17,43049088,rs80358092,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+33A>T,,c.5406+33A>T,intron_variant,Benign,55561,,448,1594272,0.00028100600148531744,0,0,eas,0.00729401,3.20,,0.00,0.00,-0.754,,,0,74536,0,0,2,59876,0,0,0,29480,0,0,357,44760,0,0,1,63980,0,0,0,6032,0,0,10,1162332,0,0,0,912,0,0,47,90488,0,0,31,61876,0,0 -17-43049092-C-T,17,43049092,rs1399767823,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+29G>A,,c.5406+29G>A,intron_variant,,,,1,628424,0.0000015912823189438977,0,0,,,0.219,,0.00,0.0800,-1.37,,,0,17688,0,0,0,43668,0,0,0,20968,0,0,0,36068,0,0,0,53116,0,0,0,4146,0,0,0,350004,0,0,,,,,1,69678,0,0,0,33088,0,0 -17-43049093-C-T,17,43049093,rs1567758831,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+28G>A,,c.5406+28G>A,intron_variant,,,,1,1450008,6.896513674407314e-7,0,0,,,4.08,,0.00,0.0400,0.592,,,0,33208,0,0,1,44642,0,0,0,26074,0,0,0,39628,0,0,0,53394,0,0,0,5744,0,0,0,1101340,0,0,,,,,0,85956,0,0,0,60022,0,0 -17-43049093-C-A,17,43049093,rs1567758831,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+28G>T,,c.5406+28G>T,intron_variant,,,,1,1450008,6.896513674407314e-7,0,0,,,3.33,,0.00,-0.0100,0.592,,,1,33208,0,0,0,44642,0,0,0,26074,0,0,0,39628,0,0,0,53394,0,0,0,5744,0,0,0,1101340,0,0,,,,,0,85956,0,0,0,60022,0,0 -17-43049093-CCTCT-C,17,43049093,rs766938984,CCTCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+24_5406+27del,,c.5406+24_5406+27del,intron_variant,Likely benign,372075,,36,1602204,0.00002246904888516069,0,0,afr,0.00032234,2.75,,0.00,0.0100,0.592,,,33,74756,0,0,0,59922,0,0,0,29542,0,0,0,44810,0,0,0,63998,0,0,0,6038,0,0,3,1169330,0,0,0,910,0,0,0,90768,0,0,0,62130,0,0 -17-43049094-C-T,17,43049094,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+27G>A,,c.5406+27G>A,intron_variant,,,,1,1453026,6.88218930700483e-7,0,0,,,3.34,,0.0100,0.120,0.511,,,0,33248,0,0,0,44648,0,0,0,26084,0,0,0,39648,0,0,0,53398,0,0,0,5752,0,0,1,1104092,0,0,,,,,0,86018,0,0,0,60138,0,0 -17-43049094-C-A,17,43049094,rs1296032988,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+27G>T,,c.5406+27G>T,intron_variant,,,,1,1453026,6.88218930700483e-7,0,0,,,2.44,,0.00,0.110,0.511,,,0,33248,0,0,0,44648,0,0,1,26084,0,0,0,39648,0,0,0,53398,0,0,0,5752,0,0,0,1104092,0,0,,,,,0,86018,0,0,0,60138,0,0 -17-43049095-T-A,17,43049095,rs2152905591,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+26A>T,,c.5406+26A>T,intron_variant,,,,5,1455254,0.000003435826323102359,0,0,sas,0.00000926,1.10,,0.00,0.00,0.0610,,,0,33292,0,0,0,44668,0,0,0,26094,0,0,0,39662,0,0,0,53394,0,0,0,5756,0,0,0,1106136,0,0,,,,,3,86056,0,0,2,60196,0,0 -17-43049096-C-G,17,43049096,rs2051067487,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+25G>C,,c.5406+25G>C,intron_variant,,,,5,1456178,0.0000034336461613896103,0,0,sas,0.00000926,4.37,,0.00,-0.0100,-0.0780,,,0,33308,0,0,0,44670,0,0,0,26098,0,0,0,39664,0,0,0,53398,0,0,0,5758,0,0,0,1106998,0,0,,,,,3,86074,0,0,2,60210,0,0 -17-43049096-C-T,17,43049096,rs2051067487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+25G>A,,c.5406+25G>A,intron_variant,,,,3,1456178,0.0000020601876968337663,0,0,nfe,2.999999999999999e-7,4.86,,0.00,0.00,-0.0780,,,0,33308,0,0,1,44670,0,0,0,26098,0,0,0,39664,0,0,0,53398,0,0,0,5758,0,0,2,1106998,0,0,,,,,0,86074,0,0,0,60210,0,0 -17-43049098-C-A,17,43049098,rs2051067759,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+23G>T,,c.5406+23G>T,intron_variant,,,,1,1456982,6.863502774914172e-7,0,0,,,2.67,,0.00,0.0300,0.0920,,,0,33358,0,0,0,44678,0,0,0,26102,0,0,0,39668,0,0,0,53394,0,0,0,5756,0,0,0,1107646,0,0,,,,,1,86106,0,0,0,60274,0,0 -17-43049098-C-CT,17,43049098,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+22dup,,c.5406+22dup,intron_variant,,,,1,1456982,6.863502774914172e-7,0,0,,,2.24,,0.00,0.0100,0.0920,,,0,33358,0,0,0,44678,0,0,0,26102,0,0,0,39668,0,0,0,53394,0,0,0,5756,0,0,1,1107646,0,0,,,,,0,86106,0,0,0,60274,0,0 -17-43049100-G-A,17,43049100,rs754884276,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+21C>T,,c.5406+21C>T,intron_variant,,,,2,1457766,0.0000013719623039637362,0,0,,,2.04,,0.00,0.00,-0.211,,,0,33364,0,0,0,44686,0,0,0,26110,0,0,1,39678,0,0,0,53402,0,0,0,5758,0,0,1,1108364,0,0,,,,,0,86128,0,0,0,60276,0,0 -17-43049104-G-A,17,43049104,rs1057522773,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+17C>T,,c.5406+17C>T,intron_variant,Likely benign,387372,,2,628674,0.0000031812990516547526,0,0,amr,0.000007580000000000001,9.45,,0.00,0.00,0.256,,,0,17694,0,0,2,43718,0,0,0,20976,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69766,0,0,0,33098,0,0 -17-43049105-G-A,17,43049105,rs778962676,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+16C>T,,c.5406+16C>T,intron_variant,not provided,865445,,2,1459234,0.0000013705820999236585,0,0,nfe,2.999999999999999e-7,6.68,,0.00,0.0100,1.37,,,0,33404,0,0,0,44702,0,0,0,26110,0,0,0,39688,0,0,0,53406,0,0,0,5766,0,0,2,1109680,0,0,,,,,0,86164,0,0,0,60314,0,0 -17-43049106-G-A,17,43049106,rs1057522056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+15C>T,,c.5406+15C>T,intron_variant,Likely benign,1121252,,1,830974,0.000001203407086142286,0,0,,,7.99,,0.00,0.0100,0.601,,,0,15724,0,0,0,978,0,0,0,5136,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,759984,0,0,,,,,1,16404,0,0,0,27226,0,0 -17-43049107-C-T,17,43049107,rs1208169773,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+14G>A,,c.5406+14G>A,intron_variant,Likely benign,868445,,1,1459912,6.849727928806668e-7,0,0,,,6.83,,0.00,0.0200,0.272,,,0,33424,0,0,0,44702,0,0,0,26110,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,1,1110286,0,0,,,,,0,86180,0,0,0,60338,0,0 -17-43049110-C-A,17,43049110,rs892136580,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+11G>T,,c.5406+11G>T,intron_variant,Likely benign,491174,,2,780818,0.000002561416360790863,0,0,,,2.49,,0.00,0.0200,0.276,,,2,59098,0,0,0,59000,0,0,0,24452,0,0,0,41264,0,0,0,63734,0,0,0,4464,0,0,0,418108,0,0,0,912,0,0,0,74606,0,0,0,35180,0,0 -17-43049111-C-T,17,43049111,rs2051069733,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+10G>A,,c.5406+10G>A,intron_variant,Likely benign,868060,,2,831914,0.000002404094654014718,0,0,afr,0.00002198,0.688,,0.00,-0.0500,0.0500,,,2,15740,0,0,0,978,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,0,760842,0,0,,,,,0,16434,0,0,0,27260,0,0 -17-43049112-A-G,17,43049112,rs80358040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+9T>C,,c.5406+9T>C,intron_variant,Conflicting interpretations of pathogenicity,125844,,2,1460778,0.0000013691334343753808,0,0,,,6.50,,0.00,0.0200,-0.201,,,1,33444,0,0,0,44714,0,0,0,26124,0,0,0,39694,0,0,0,53416,0,0,0,5766,0,0,1,1111038,0,0,,,,,0,86220,0,0,0,60362,0,0 -17-43049113-A-G,17,43049113,rs55946644,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+8T>C,,c.5406+8T>C,splice_region_variant,Benign,125843,,1380,1613446,0.0008553121703484344,17,0,afr,0.014644939999999999,2.40,,0.00,0.0200,1.58,,,1154,75020,16,0,101,60002,1,0,0,29594,0,0,0,44884,0,0,0,64030,0,0,8,6062,0,0,15,1179410,0,0,0,912,0,0,5,91048,0,0,97,62484,0,0 -17-43049114-T-C,17,43049114,rs397509280,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+7A>G,,c.5406+7A>G,splice_region_variant,Likely benign,55566,,4,1460944,0.000002737955732731713,0,0,nfe,2.999999999999999e-7,0.298,,0.0100,-0.110,-1.26,,,0,33448,0,0,0,44716,0,0,0,26124,0,0,1,39692,0,0,0,53416,0,0,0,5766,0,0,2,1111182,0,0,,,,,0,86234,0,0,1,60366,0,0 -17-43049115-A-T,17,43049115,rs1555575074,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+6T>A,,c.5406+6T>A,intron_variant,Uncertain significance,462673,,1,832264,0.0000012015418184614497,0,0,,,17.1,,0.410,-0.740,0.199,,,0,15762,0,0,0,980,0,0,0,5144,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761146,0,0,,,,,0,16442,0,0,0,27268,0,0 -17-43049116-C-A,17,43049116,rs80358073,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5406+5G>T,,c.5406+5G>T,intron_variant,Conflicting interpretations of pathogenicity,37667,,1,152156,0.0000065722022135177055,0,0,,,24.2,,0.920,-0.840,5.99,,,1,41440,0,0,0,15278,0,0,0,3472,0,0,0,5204,0,0,0,10612,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43049120-C-T,17,43049120,rs80358028,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+1G>A,,c.5406+1G>A,splice_donor_variant,Pathogenic,37666,,1,832612,0.000001201039619894981,0,0,,,33.0,,0.990,-0.850,7.12,,,0,15770,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761462,0,0,,,,,0,16448,0,0,0,27278,0,0 -17-43049121-T-G,17,43049121,rs879255493,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1802Thr,p.Thr1802Thr,c.5406A>C,splice_region_variant,Likely benign,252887,,3,1461438,0.0000020527726800589557,0,0,nfe,7.200000000000001e-7,5.17,,0.00,0.0200,0.226,,,0,33468,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,3,1111606,0,0,,,,,0,86242,0,0,0,60384,0,0 -17-43049122-G-A,17,43049122,rs2051072173,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1802Ile,p.Thr1802Ile,c.5405C>T,missense_variant,Conflicting interpretations of pathogenicity,868055,,1,628770,0.000001590406666984748,0,0,,,20.6,0.485,0.00,-0.0300,0.573,0.0100,0.0570,0,17694,0,0,0,43734,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43049125-C-T,17,43049125,rs531210457,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1801Asp,p.Gly1801Asp,c.5402G>A,missense_variant,Benign/Likely benign,142834,,19,1613860,0.00001177301624676242,0,0,sas,0.00012718999999999998,12.8,0.443,0.00,0.00,0.430,0.500,0.00300,0,75004,0,0,1,60008,0,0,0,29600,0,0,0,44882,0,0,0,64022,0,0,0,6062,0,0,0,1179814,0,0,0,912,0,0,18,91062,0,0,0,62494,0,0 -17-43049129-G-A,17,43049129,rs2051074344,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1800Phe,p.Leu1800Phe,c.5398C>T,missense_variant,Likely benign,865418,,1,832960,0.000001200537840952747,0,0,,,10.9,0.499,0.00,0.00,-0.626,0.470,0.00100,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761768,0,0,,,,,0,16456,0,0,0,27294,0,0 -17-43049130-G-A,17,43049130,rs1131692096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1799Thr,p.Thr1799Thr,c.5397C>T,synonymous_variant,Likely benign,427287,,1,832988,0.000001200497486158264,0,0,,,4.95,,0.00,0.0100,0.270,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761790,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43049131-G-A,17,43049131,rs786201945,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1799Ile,p.Thr1799Ile,c.5396C>T,missense_variant,Conflicting interpretations of pathogenicity,185124,,2,628774,0.0000031807930989512924,0,0,,,25.3,0.595,0.00,0.00,3.99,0.0100,0.0250,0,17694,0,0,0,43738,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049133-G-A,17,43049133,rs777371808,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1798Phe,p.Phe1798Phe,c.5394C>T,synonymous_variant,Likely benign,427362,,2,628774,0.0000031807930989512924,0,0,,,10.7,,0.00,-0.0200,1.98,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,1,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43049135-AT-A,17,43049135,rs774988515,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1798SerfsTer36,p.Phe1798SerfsTer36,c.5391del,frameshift_variant,Pathogenic,254469,,1,628778,0.0000015903864320952704,0,0,,,24.1,,0.00,-0.0100,0.754,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049137-G-T,17,43049137,rs879255492,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1797Ter,p.Ser1797Ter,c.5390C>A,stop_gained,Pathogenic,491173,,1,152176,0.00000657133845021554,0,0,,,37.0,,0.0100,-0.160,0.708,,,0,41448,0,0,0,15274,0,0,0,3472,0,0,0,5198,0,0,0,10606,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,1,4826,0,0,0,2092,0,0 -17-43049139-T-C,17,43049139,rs373810778,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1796Ser,p.Ser1796Ser,c.5388A>G,synonymous_variant,Likely benign,184087,,4,781062,0.000005121232373358325,0,0,,,4.55,,0.00,0.00,-5.45,,,0,59264,0,0,0,59030,0,0,0,24456,0,0,1,41254,0,0,0,63760,0,0,0,4442,0,0,0,418110,0,0,0,912,0,0,2,74624,0,0,1,35210,0,0 -17-43049144-G-A,17,43049144,rs878854958,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1795Phe,p.Leu1795Phe,c.5383C>T,missense_variant,Conflicting interpretations of pathogenicity,240821,,2,628776,0.0000031807829815387355,0,0,,,19.4,0.465,0.00,0.0100,1.98,0.160,0.698,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43049145-C-G,17,43049145,rs397509275,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Asp,p.Glu1794Asp,c.5382G>C,missense_variant,Likely benign,439444,,10,1461844,0.000006840675202005139,0,0,nfe,0.00000455,17.8,0.521,0.00,0.00,-0.508,0.0500,0.0460,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,10,1111964,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43049145-C-T,17,43049145,rs397509275,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Glu,p.Glu1794Glu,c.5382G>A,synonymous_variant,Conflicting interpretations of pathogenicity,795118,,11,1461846,0.000007524732427355549,0,0,nfe,0.00000455,6.04,,0.00,-0.0100,-0.508,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,10,1111966,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43049146-T-C,17,43049146,rs2051080642,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Gly,p.Glu1794Gly,c.5381A>G,missense_variant,not provided,865680,,1,628778,0.0000015903864320952704,0,0,,,28.8,0.665,0.00,-0.0500,2.35,0.00,0.00300,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43049147-C-T,17,43049147,rs776323117,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Lys,p.Glu1794Lys,c.5380G>A,missense_variant,Conflicting interpretations of pathogenicity,865677,,1,628782,0.0000015903763148436182,0,0,,,23.7,0.530,0.00,0.00,3.54,0.0700,0.131,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43049148-C-T,17,43049148,rs1367255905,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1793Lys,p.Lys1793Lys,c.5379G>A,synonymous_variant,Likely benign,865398,,1,152140,0.000006572893387669252,0,0,,,8.87,,0.00,-0.0300,2.44,,,0,41432,0,0,0,15250,0,0,0,3472,0,0,1,5198,0,0,0,10618,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 -17-43049152-A-G,17,43049152,rs2051082443,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1792Ala,p.Val1792Ala,c.5375T>C,missense_variant,not provided,868390,,1,833104,0.0000012003303309070656,0,0,,,26.8,0.780,0.00,0.00,4.71,0.00,0.196,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43049153-C-T,17,43049153,rs1555575131,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1792Met,p.Val1792Met,c.5374G>A,missense_variant,Uncertain significance,581900,,1,628780,0.0000015903813734533542,0,0,,,25.8,0.690,0.00,0.00,8.89,0.00,0.0980,0,17694,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049155-A-G,17,43049155,rs864622244,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1791Ala,p.Val1791Ala,c.5372T>C,missense_variant,Conflicting interpretations of pathogenicity,219775,,2,1461884,0.0000013680976055555708,0,0,afr,0.00000989,26.7,0.736,0.00,0.00,6.32,0.00,0.0860,2,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,0,1112002,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43049156-C-A,17,43049156,rs145758886,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1791Leu,p.Val1791Leu,c.5371G>T,missense_variant,Conflicting interpretations of pathogenicity,142002,,2,628782,0.0000031807526296872365,0,0,nfe,9.5e-7,24.8,0.639,0.00,0.00,8.89,0.00,0.0140,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049159-A-T,17,43049159,rs1567758993,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1790Thr,p.Ser1790Thr,c.5368T>A,missense_variant,not provided,865388,,1,628776,0.0000015903914907693677,0,0,,,22.8,0.463,0.00,0.00,0.502,0.130,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049160-AG-A,17,43049160,rs760188581,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789ValfsTer4,p.Ala1789ValfsTer4,c.5366del,frameshift_variant,Pathogenic,254468,,1,628778,0.0000015903864320952704,0,0,,,34.0,,0.00,-0.0300,-0.668,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43049162-C-A,17,43049162,rs80357078,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789Ser,p.Ala1789Ser,c.5365G>T,missense_variant,Conflicting interpretations of pathogenicity,55553,,15,1461880,0.000010260760117109475,0,0,nfe,0.0000081,25.1,0.734,0.00,0.00,8.89,0.00,0.536,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,15,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43049162-C-T,17,43049162,rs80357078,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789Thr,p.Ala1789Thr,c.5365G>A,missense_variant,Conflicting interpretations of pathogenicity,55552,,1,1461880,6.840506744739651e-7,0,0,,,26.2,0.793,0.00,0.00,8.89,0.00,0.462,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43049163-A-G,17,43049163,rs2051086346,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1788Gly,p.Gly1788Gly,c.5364T>C,synonymous_variant,not provided,868378,,1,628774,0.0000015903965494756462,0,0,,,8.06,,0.00,0.00,0.554,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049164-C-T,17,43049164,rs80357069,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1788Asp,p.Gly1788Asp,c.5363G>A,missense_variant,Uncertain significance,55551,,2,1461874,0.0000013681069640748791,0,0,,,25.6,0.862,0.00,0.00,8.89,0.00,0.846,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1111996,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43049164-C-A,17,43049164,rs80357069,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1788Val,p.Gly1788Val,c.5363G>T,missense_variant,Pathogenic,37660,,1,152166,0.000006571770303484353,0,0,,,25.6,0.856,0.00,0.0100,8.89,,,0,41452,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 -17-43049170-A-T,17,43049170,rs398122697,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1786Gln,p.Leu1786Gln,c.5357T>A,missense_variant,not provided,865377,,1,833088,0.0000012003533840362603,0,0,,,27.2,0.647,0.00,0.00,6.32,0.00,0.477,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761882,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43049174-G-A,17,43049174,rs80356969,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1785Ter,p.Gln1785Ter,c.5353C>T,stop_gained,Pathogenic,55546,,1,1461842,6.840684560985387e-7,0,0,,,39.0,,0.0100,-0.0900,2.96,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43049174-GT-G,17,43049174,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1785SerfsTer8,p.Gln1785SerfsTer8,c.5352del,frameshift_variant,,,,1,1461842,6.840684560985387e-7,0,0,,,26.2,,0.00,-0.0100,2.96,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43049175-T-C,17,43049175,rs767459025,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1784Val,p.Val1784Val,c.5352A>G,synonymous_variant,Likely benign,427333,,18,1461598,0.000012315287787750121,0,0,sas,0.00013404999999999998,5.70,,0.00,0.00,0.455,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53418,0,0,0,5768,0,0,0,1111746,0,0,,,,,18,86250,0,0,0,60390,0,0 -17-43049178-C-T,17,43049178,rs587782019,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Ile,p.Met1783Ile,c.5349G>A,missense_variant,Conflicting interpretations of pathogenicity,141796,,2,985210,0.0000020300240557850612,0,0,,,22.6,0.467,0.00,-0.0200,2.95,0.00,0.0910,1,57210,0,0,0,16256,0,0,0,8624,0,0,0,8824,0,0,0,10890,0,0,0,1936,0,0,1,829884,0,0,0,910,0,0,0,21290,0,0,0,29386,0,0 -17-43049179-A-G,17,43049179,rs55808233,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Thr,p.Met1783Thr,c.5348T>C,missense_variant,Conflicting interpretations of pathogenicity,37659,,150,1614158,0.00009292770596186991,0,0,afr,0.0014276999999999998,25.2,0.625,0.00,0.00,6.32,0.00,0.921,125,75040,0,0,9,60024,0,0,0,29608,0,0,0,44886,0,0,0,64046,0,0,0,6062,0,0,0,1179990,0,0,0,912,0,0,0,91084,0,0,16,62506,0,0 -17-43049180-T-G,17,43049180,rs80357012,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Leu,p.Met1783Leu,c.5347A>C,missense_variant,Conflicting interpretations of pathogenicity,55545,,10,1613980,0.0000061958636414329795,0,0,eas,0.00010390999999999997,23.8,0.457,0.00,-0.0200,3.71,0.00,0.217,0,74906,0,0,0,60006,0,0,0,29608,0,0,9,44894,0,0,0,64024,0,0,0,6084,0,0,1,1179978,0,0,0,912,0,0,0,91088,0,0,0,62480,0,0 -17-43049180-T-C,17,43049180,rs80357012,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1783Val,p.Met1783Val,c.5347A>G,missense_variant,Uncertain significance,531270,,1,1461838,6.84070327902271e-7,0,0,,,24.1,0.569,0.0200,-0.0600,3.71,0.00,0.156,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111962,0,0,,,,,1,86256,0,0,0,60394,0,0 -17-43049181-C-T,17,43049181,rs80357284,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1782Ter,p.Trp1782Ter,c.5346G>A,stop_gained,Pathogenic,37658,,1,628780,0.0000015903813734533542,0,0,,,41.0,,0.0100,-0.0700,7.11,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049182-C-T,17,43049182,rs80357219,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1782Ter,p.Trp1782Ter,c.5345G>A,stop_gained,Pathogenic,55544,,2,833050,0.0000024008162775343618,0,0,nfe,4.4e-7,42.0,,0.00,-0.110,5.55,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761848,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43049184-T-G,17,43049184,rs1555575182,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1781Asp,p.Glu1781Asp,c.5343A>C,missense_variant,Conflicting interpretations of pathogenicity,489730,,19,1461806,0.000012997620751317206,0,0,nfe,0.00001093,15.8,0.527,0.00,0.00,0.236,0.00,0.867,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,19,1111936,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43049187-C-T,17,43049187,rs766700840,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1780Leu,p.Leu1780Leu,c.5340G>A,synonymous_variant,Likely benign,427323,,2,780950,0.0000025609834176323707,0,0,,,2.53,,0.0200,-0.0700,-0.291,,,1,59138,0,0,0,59018,0,0,0,24456,0,0,0,41262,0,0,1,63762,0,0,0,4464,0,0,0,418120,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 -17-43049188-A-G,17,43049188,rs80357474,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1780Pro,p.Leu1780Pro,c.5339T>C,missense_variant,Pathogenic/Likely pathogenic,55541,,2,628766,0.0000031808335692451565,0,0,eas,0.00000919,24.6,0.666,0.00,0.00,6.32,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43049189-G-A,17,43049189,rs1309977577,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1780Leu,p.Leu1780Leu,c.5338C>T,synonymous_variant,,,,1,628778,0.0000015903864320952704,0,0,,,4.64,,0.00,-0.0300,3.48,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43049190-T-C,17,43049190,rs876659718,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Gln,p.Gln1779Gln,c.5337A>G,synonymous_variant,Likely benign,232356,,2,832968,0.000002401052621469252,0,0,nfe,4.4e-7,1.58,,0.290,0.0700,-1.23,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761768,0,0,,,,,0,16460,0,0,0,27294,0,0 -17-43049192-G-C,17,43049192,rs397509267,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Glu,p.Gln1779Glu,c.5335C>G,missense_variant,Uncertain significance,825658,,3,1461554,0.0000020526097564646944,0,0,,,17.1,0.301,0.00,-0.0200,5.83,0.240,0.264,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111714,0,0,,,,,1,86246,0,0,1,60382,0,0 -17-43049192-G-A,17,43049192,rs397509267,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Ter,p.Gln1779Ter,c.5335C>T,stop_gained,Pathogenic,55540,,1,1461554,6.842032521548982e-7,0,0,,,40.0,,0.0100,-0.0700,5.83,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111714,0,0,,,,,0,86246,0,0,0,60382,0,0 -17-43049193-A-G,17,43049193,rs754152768,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1778Asp,p.Asp1778Asp,c.5334T>C,splice_region_variant,Benign/Likely benign,186289,,34,1613854,0.000021067581082303602,0,0,nfe,0.00001963,10.8,,0.00,-0.0500,2.94,,,1,74920,0,0,1,59998,0,0,0,29608,0,0,0,44896,0,0,0,64022,0,0,0,6084,0,0,32,1179852,0,0,0,912,0,0,0,91088,0,0,0,62474,0,0 -17-43049193-A-T,17,43049193,rs754152768,A,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Tyr11Ter,p.Tyr11Ter,c.33T>A,stop_gained,Uncertain significance,865356,,1,1461692,6.841386557496381e-7,0,0,,,20.7,0.527,0.00,-0.0600,2.94,0.150,0.0140,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1111824,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43049194-T-C,17,43049194,rs80357041,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1778Gly,p.Asp1778Gly,c.5333A>G,missense_variant,Conflicting interpretations of pathogenicity,55539,,11,780918,0.000014085985980602317,0,0,nfe,0.00001209,20.6,0.560,0.00,0.00,2.95,0.180,0.364,0,59122,0,0,0,59002,0,0,0,24456,0,0,0,41262,0,0,0,63754,0,0,0,4464,0,0,10,418136,0,0,0,910,0,0,0,74626,0,0,1,35186,0,0 -17-43049196-T-G,17,43049196,rs397509264,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-2A>C,,c.5333-2A>C,splice_acceptor_variant,Pathogenic,55535,,2,1461550,0.000001368410249392768,0,0,nfe,2.999999999999999e-7,32.0,,1.00,-0.850,6.35,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53414,0,0,0,5766,0,0,2,1111698,0,0,,,,,0,86252,0,0,0,60388,0,0 -17-43049201-T-C,17,43049201,rs538969920,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-7A>G,,c.5333-7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,438940,,6,1612586,0.0000037207317935291515,0,0,afr,0.00001062,1.81,,0.00,0.00,1.06,,,3,75014,0,0,0,60006,0,0,0,29598,0,0,0,44870,0,0,0,64032,0,0,0,6062,0,0,0,1178600,0,0,0,910,0,0,0,91034,0,0,3,62460,0,0 -17-43049202-G-A,17,43049202,rs80358084,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-8C>T,,c.5333-8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,125831,,28,1611644,0.000017373563888799262,0,0,nfe,0.000013,1.78,,0.00,0.0100,-0.0160,,,0,74856,0,0,2,59980,0,0,0,29590,0,0,0,44876,0,0,0,64010,0,0,0,6084,0,0,23,1177914,0,0,0,912,0,0,0,91032,0,0,3,62390,0,0 -17-43049203-G-T,17,43049203,rs2051099141,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-9C>A,,c.5333-9C>A,intron_variant,not provided,865348,,1,830594,0.0000012039576495857182,0,0,,,1.46,,0.0100,-0.0400,1.15,,,0,15734,0,0,0,978,0,0,0,5140,0,0,0,3614,0,0,0,276,0,0,0,1620,0,0,1,759624,0,0,,,,,0,16408,0,0,0,27200,0,0 -17-43049205-C-T,17,43049205,rs1057524666,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-11G>A,,c.5333-11G>A,intron_variant,Likely benign,392864,,1,628754,0.0000015904471383084641,0,0,,,1.40,,0.00,0.00,0.847,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,1,36070,0,0,0,53136,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43049209-T-C,17,43049209,rs2051100090,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-15A>G,,c.5333-15A>G,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,0.0240,,0.00,0.00,-3.51,,,1,41452,0,0,0,15284,0,0,0,3470,0,0,0,5200,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43049212-A-T,17,43049212,rs1555575227,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-18T>A,,c.5333-18T>A,intron_variant,Likely benign,1670769,,1,628744,0.0000015904724339317751,0,0,,,9.59,,0.00,-0.0200,1.80,,,0,17694,0,0,0,43736,0,0,0,20980,0,0,0,36070,0,0,0,53130,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43049213-T-C,17,43049213,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-19A>G,,c.5333-19A>G,intron_variant,,,,4,1459050,0.0000027415098865700286,0,0,sas,0.00000385,3.96,,0.00,0.00,0.461,,,0,33410,0,0,0,44720,0,0,0,26120,0,0,0,39692,0,0,0,53400,0,0,0,5762,0,0,0,1109456,0,0,,,,,2,86178,0,0,2,60312,0,0 -17-43049219-A-C,17,43049219,rs777091166,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-25T>G,,c.5333-25T>G,intron_variant,,,,1,628670,0.0000015906596465554266,0,0,,,8.05,,0.00,-0.0300,0.281,,,0,17694,0,0,0,43730,0,0,0,20980,0,0,0,36070,0,0,0,53100,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69774,0,0,0,33098,0,0 -17-43049222-A-AT,17,43049222,,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-29_5333-28insA,,c.5333-29_5333-28insA,intron_variant,,,,1,823238,0.0000012147155500596426,0,0,,,5.43,,0.00,-0.0200,2.40,,,0,15540,0,0,0,974,0,0,0,5104,0,0,0,3590,0,0,0,272,0,0,0,1608,0,0,1,752948,0,0,,,,,0,16222,0,0,0,26980,0,0 -17-43049223-C-A,17,43049223,rs2152961601,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-29G>T,,c.5333-29G>T,intron_variant,,,,1,814922,0.0000012271113063581545,0,0,,,2.10,,0.00,0.0100,0.657,,,0,15322,0,0,0,958,0,0,0,5056,0,0,0,3546,0,0,0,266,0,0,0,1592,0,0,1,745430,0,0,,,,,0,16038,0,0,0,26714,0,0 -17-43049224-T-C,17,43049224,rs1016774811,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-30A>G,,c.5333-30A>G,intron_variant,,,,1,1443190,6.929094575211857e-7,0,0,,,0.735,,0.00,-0.0100,0.187,,,0,33000,0,0,0,44688,0,0,0,26026,0,0,0,39608,0,0,0,53316,0,0,0,5740,0,0,0,1095248,0,0,,,,,0,85766,0,0,1,59798,0,0 -17-43049225-G-C,17,43049225,rs1024465566,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-31C>G,,c.5333-31C>G,intron_variant,,,,2,1442556,0.0000013864279792257632,0,0,nfe,2.999999999999999e-7,2.74,,0.00,0.00,0.412,,,0,32992,0,0,0,44678,0,0,0,26024,0,0,0,39606,0,0,0,53304,0,0,0,5736,0,0,2,1094698,0,0,,,,,0,85760,0,0,0,59758,0,0 -17-43049226-C-T,17,43049226,rs1344773206,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-32G>A,,c.5333-32G>A,intron_variant,,,,2,152172,0.000013143022369424073,0,0,nfe,0.00000488,1.26,,0.00,0.00,-0.605,,,0,41438,0,0,0,15274,0,0,0,3472,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,2,68032,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 -17-43049229-T-G,17,43049229,rs775618857,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-35A>C,,c.5333-35A>C,intron_variant,Likely benign,491141,,5,794096,0.000006296467933348109,0,0,nfe,0.00000202,2.42,,0.00,0.00,-1.15,,,0,14884,0,0,0,906,0,0,0,4912,0,0,0,3428,0,0,0,252,0,0,0,1548,0,0,5,726560,0,0,,,,,0,15642,0,0,0,25964,0,0 -17-43049230-A-G,17,43049230,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-36T>C,,c.5333-36T>C,intron_variant,,,,1,1433778,6.974580444113384e-7,0,0,,,0.913,,0.00,0.00,-1.70,,,0,32824,0,0,0,44660,0,0,0,25962,0,0,0,39566,0,0,0,53280,0,0,0,5714,0,0,0,1086692,0,0,,,,,0,85618,0,0,1,59462,0,0 -17-43049230-A-C,17,43049230,rs1373369475,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-36T>G,,c.5333-36T>G,intron_variant,,,,1,152192,0.000006570647603027754,0,0,,,0.692,,0.00,-0.0100,-1.70,,,0,41442,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43049231-A-C,17,43049231,rs2152962868,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-37T>G,,c.5333-37T>G,intron_variant,,,,1,628446,0.0000015912266129468563,0,0,,,3.24,,0.00,0.00,0.515,,,0,17694,0,0,0,43714,0,0,0,20972,0,0,0,36070,0,0,0,53024,0,0,0,4148,0,0,1,350010,0,0,,,,,0,69722,0,0,0,33092,0,0 -17-43049233-C-T,17,43049233,rs746516195,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-39G>A,,c.5333-39G>A,intron_variant,,,,3,628310,0.000004774713119320081,0,0,sas,0.00001143,7.51,,0.00,0.00,1.72,,,0,17694,0,0,0,43696,0,0,0,20968,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,0,349986,0,0,,,,,3,69686,0,0,0,33090,0,0 -17-43049233-C-A,17,43049233,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-39G>T,,c.5333-39G>T,intron_variant,,,,1,628310,0.0000015915710397733604,0,0,,,7.24,,0.00,0.00,1.72,,,0,17694,0,0,0,43696,0,0,0,20968,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,1,349986,0,0,,,,,0,69686,0,0,0,33090,0,0 -17-43049234-T-G,17,43049234,rs369978584,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-40A>C,,c.5333-40A>C,intron_variant,Likely benign,491147,,7,1433282,0.0000048838958418510805,0,0,nfe,0.0000019900000000000004,6.08,,0.00,0.00,-0.0300,,,0,32804,0,0,0,44630,0,0,0,25950,0,0,0,39560,0,0,0,53230,0,0,0,5702,0,0,6,1086392,0,0,,,,,0,85526,0,0,1,59488,0,0 -17-43049234-TGCATACTTAACCCAG-T,17,43049234,,TGCATACTTAACCCAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-55_5333-41del,,c.5333-55_5333-41del,intron_variant,,,,1,1433282,6.976994059787258e-7,0,0,,,1.72,,0.00,-0.0500,-0.0300,,,0,32804,0,0,0,44630,0,0,0,25950,0,0,0,39560,0,0,0,53230,0,0,0,5702,0,0,1,1086392,0,0,,,,,0,85526,0,0,0,59488,0,0 -17-43049235-G-A,17,43049235,rs1177187843,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-41C>T,,c.5333-41C>T,intron_variant,Likely benign,918345,,2,1429168,0.0000013994156040437513,0,0,,,1.93,,0.00,0.00,-0.369,,,0,32700,0,0,1,44610,0,0,0,25934,0,0,0,39548,0,0,0,53120,0,0,0,5702,0,0,1,1082784,0,0,,,,,0,85422,0,0,0,59348,0,0 -17-43049236-C-A,17,43049236,rs1387393156,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-42G>T,,c.5333-42G>T,intron_variant,,,,3,1423922,0.000002106856976716421,0,0,nfe,7.399999999999999e-7,2.17,,0.00,0.00,0.104,,,0,32594,0,0,0,44586,0,0,0,25902,0,0,0,39518,0,0,0,53122,0,0,0,5690,0,0,3,1078040,0,0,,,,,0,85300,0,0,0,59170,0,0 -17-43049237-A-G,17,43049237,rs1405607243,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-43T>C,,c.5333-43T>C,intron_variant,,,,5,628146,0.000007959932881845941,0,0,,,3.70,,0.00,0.00,0.228,,,0,17694,0,0,0,43678,0,0,0,20966,0,0,0,36066,0,0,4,52916,0,0,0,4148,0,0,0,349944,0,0,,,,,0,69644,0,0,1,33090,0,0 -17-43049238-T-C,17,43049238,rs971529039,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-44A>G,,c.5333-44A>G,intron_variant,Likely benign,918448,,3,1567810,0.0000019134971712133485,0,0,afr,0.00001078,0.220,,0.00,0.00,-0.846,,,3,73878,0,0,0,59862,0,0,0,29314,0,0,0,44666,0,0,0,63756,0,0,0,5990,0,0,0,1138522,0,0,0,912,0,0,0,89970,0,0,0,60940,0,0 -17-43049238-T-A,17,43049238,rs971529039,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-44A>T,,c.5333-44A>T,intron_variant,,,,6,1567810,0.000003826994342426697,0,0,nfe,0.0000019000000000000002,0.195,,0.00,0.00,-0.846,,,0,73878,0,0,0,59862,0,0,0,29314,0,0,0,44666,0,0,0,63756,0,0,0,5990,0,0,6,1138522,0,0,0,912,0,0,0,89970,0,0,0,60940,0,0 -17-43049243-A-G,17,43049243,rs1247333490,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-49T>C,,c.5333-49T>C,intron_variant,Likely benign,491163,,1,152130,0.0000065733254453427986,0,0,,,0.728,,0.00,-0.0100,0.120,,,0,41418,0,0,0,15264,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 -17-43049243-A-C,17,43049243,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-49T>G,,c.5333-49T>G,intron_variant,,,,1,627468,0.0000015937067707038447,0,0,,,0.479,,0.00,0.00,0.120,,,1,17692,0,0,0,43614,0,0,0,20940,0,0,0,36062,0,0,0,52680,0,0,0,4148,0,0,0,349734,0,0,,,,,0,69516,0,0,0,33082,0,0 -17-43049244-A-AC,17,43049244,rs753156283,A,AC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-51dup,,c.5333-51dup,intron_variant,,,,8,1387836,0.00000576436985349854,0,0,nfe,0.0000027800000000000005,1.07,,0.0100,0.0100,0.0510,,,0,31832,0,0,0,44474,0,0,0,25624,0,0,0,39328,0,0,0,52842,0,0,0,5626,0,0,7,1045590,0,0,,,,,0,84494,0,0,1,58026,0,0 -17-43049246-C-G,17,43049246,rs1205734172,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-52G>C,,c.5333-52G>C,intron_variant,Likely benign,629031,,19,1528888,0.000012427332806588841,0,0,nfe,0.00001101,2.03,,0.00,-0.0200,0.632,,,0,73010,0,0,0,59672,0,0,0,28986,0,0,0,44478,0,0,0,63340,0,0,0,5918,0,0,19,1103794,0,0,0,910,0,0,0,89062,0,0,0,59718,0,0 -17-43049247-C-T,17,43049247,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-53G>A,,c.5333-53G>A,intron_variant,,,,2,748366,0.000002672489129650465,0,0,nfe,4.9e-7,0.609,,0.00,-0.0100,-1.08,,,0,13876,0,0,0,866,0,0,0,4568,0,0,0,3232,0,0,0,240,0,0,0,1456,0,0,2,684830,0,0,,,,,0,14786,0,0,0,24512,0,0 -17-43049249-G-T,17,43049249,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-55C>A,,c.5333-55C>A,intron_variant,,,,1,1359132,7.35763708013644e-7,0,0,,,0.708,,0.00,0.00,-0.605,,,0,31268,0,0,0,44340,0,0,0,25368,0,0,0,39174,0,0,1,52518,0,0,0,5570,0,0,0,1019994,0,0,,,,,0,83822,0,0,0,57078,0,0 -17-43049252-C-T,17,43049252,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-58G>A,,c.5333-58G>A,intron_variant,,,,1,1337002,7.479420374838631e-7,0,0,,,4.41,,0.00,-0.0100,0.109,,,0,30836,0,0,0,44252,0,0,0,25236,0,0,0,39052,0,0,0,52412,0,0,0,5552,0,0,1,1000042,0,0,,,,,0,83268,0,0,0,56352,0,0 -17-43049252-C-A,17,43049252,rs547593667,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-58G>T,,c.5333-58G>T,intron_variant,Likely benign,927109,,1,152216,0.0000065696116045619385,0,0,,,3.71,,0.00,-0.0100,0.109,,,0,41546,0,0,1,15280,0,0,0,3470,0,0,0,5174,0,0,0,10612,0,0,0,294,0,0,0,68006,0,0,0,912,0,0,0,4812,0,0,0,2110,0,0 -17-43049257-A-C,17,43049257,rs763180418,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-63T>G,,c.5333-63T>G,intron_variant,,,,3,1285336,0.000002334020053900303,0,0,nfe,8.4e-7,1.84,,0.00,0.00,-0.266,,,0,29810,0,0,0,43886,0,0,0,24888,0,0,0,38808,0,0,0,52012,0,0,0,5470,0,0,3,953848,0,0,,,,,0,81982,0,0,0,54632,0,0 -17-43049257-A-G,17,43049257,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-63T>C,,c.5333-63T>C,intron_variant,,,,2,1285336,0.0000015560133692668686,0,0,nfe,3.5000000000000004e-7,2.16,,0.00,-0.0100,-0.266,,,0,29810,0,0,0,43886,0,0,0,24888,0,0,0,38808,0,0,0,52012,0,0,0,5470,0,0,2,953848,0,0,,,,,0,81982,0,0,0,54632,0,0 -17-43049258-C-T,17,43049258,rs2051103466,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-64G>A,,c.5333-64G>A,intron_variant,,,,4,1282352,0.0000031192683444171335,0,0,nfe,9.799999999999997e-7,0.363,,0.00,-0.0100,0.151,,,0,29736,0,0,0,43922,0,0,0,24890,0,0,0,38810,0,0,0,51978,0,0,0,5450,0,0,4,951070,0,0,,,,,0,81934,0,0,0,54562,0,0 -17-43049259-C-T,17,43049259,rs1555575250,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-65G>A,,c.5333-65G>A,intron_variant,Likely benign,491169,,5,796790,0.000006275179156364914,0,0,afr,0.00000623,3.31,,0.00,-0.0100,-0.165,,,2,53202,0,0,0,15998,0,0,0,7392,0,0,0,7898,0,0,0,10812,0,0,0,1600,0,0,3,658252,0,0,0,912,0,0,0,17504,0,0,0,23220,0,0 -17-43049260-C-G,17,43049260,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-66G>C,,c.5333-66G>C,intron_variant,,,,1,1267398,7.890181300585924e-7,0,0,,,2.02,,0.00,-0.0100,0.304,,,1,29450,0,0,0,43624,0,0,0,24738,0,0,0,38714,0,0,0,51542,0,0,0,5424,0,0,0,938340,0,0,,,,,0,81438,0,0,0,54128,0,0 -17-43049262-A-T,17,43049262,rs1567759289,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-68T>A,,c.5333-68T>A,intron_variant,,,,1,621866,0.0000016080634734814252,0,0,,,1.14,,0.00,0.00,-0.729,,,0,17650,0,0,0,42816,0,0,0,20796,0,0,0,36022,0,0,0,51292,0,0,0,4146,0,0,1,347464,0,0,,,,,0,68726,0,0,0,32954,0,0 -17-43049264-ACT-A,17,43049264,rs1418295859,ACT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-72_5333-71del,,c.5333-72_5333-71del,intron_variant,Likely benign,491170,,5,1388128,0.0000036019733050554417,0,0,nfe,9.6e-7,0.955,,0.00,-0.0100,-0.368,,,0,70244,0,0,0,58506,0,0,0,27972,0,0,0,43782,0,0,0,61746,0,0,0,5688,0,0,4,978608,0,0,0,910,0,0,0,85496,0,0,1,55176,0,0 -17-43049265-C-A,17,43049265,rs2152967698,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-71G>T,,c.5333-71G>T,intron_variant,,,,1,620228,0.0000016123103116918294,0,0,,,0.776,,0.00,0.00,0.133,,,0,17638,0,0,0,42552,0,0,0,20768,0,0,0,36012,0,0,0,50924,0,0,0,4142,0,0,0,346768,0,0,,,,,1,68510,0,0,0,32914,0,0 -17-43049267-C-G,17,43049267,rs2051104332,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>C,,c.5333-73G>C,intron_variant,Likely benign,926691,,1,1211118,8.256833768468473e-7,0,0,,,2.69,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,0,38480,0,0,0,50862,0,0,0,5328,0,0,0,888418,0,0,,,,,1,79906,0,0,0,52344,0,0 -17-43049267-C-A,17,43049267,rs2051104332,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>T,,c.5333-73G>T,intron_variant,,,,2,1211118,0.0000016513667536936945,0,0,,,2.43,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,1,38480,0,0,0,50862,0,0,0,5328,0,0,1,888418,0,0,,,,,0,79906,0,0,0,52344,0,0 -17-43049267-C-T,17,43049267,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>A,,c.5333-73G>A,intron_variant,,,,1,1211118,8.256833768468473e-7,0,0,,,3.07,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,0,38480,0,0,0,50862,0,0,0,5328,0,0,1,888418,0,0,,,,,0,79906,0,0,0,52344,0,0 -17-43049987-A-T,17,43049987,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-793T>A,,c.5333-793T>A,intron_variant,,,,1,246142,0.000004062695517221767,0,0,,,13.3,,0.0700,0.0600,0.271,,,0,7178,0,0,0,7432,0,0,0,9234,0,0,1,22884,0,0,0,20794,0,0,0,1292,0,0,0,157932,0,0,,,,,0,3030,0,0,0,16366,0,0 -17-43049990-T-A,17,43049990,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-796A>T,,c.5333-796A>T,intron_variant,,,,1,246138,0.000004062761540274155,0,0,,,8.07,,0.0100,0.00,0.272,,,0,7176,0,0,1,7432,0,0,0,9236,0,0,0,22884,0,0,0,20796,0,0,0,1292,0,0,0,157928,0,0,,,,,0,3030,0,0,0,16364,0,0 -17-43049995-G-C,17,43049995,rs1377310040,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-801C>G,,c.5333-801C>G,intron_variant,,,,1,152178,0.000006571252086372537,0,0,,,14.7,,0.0100,0.0100,0.337,,,1,41442,0,0,0,15268,0,0,0,3466,0,0,0,5200,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43049996-A-G,17,43049996,rs1283769880,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-802T>C,,c.5333-802T>C,intron_variant,,,,1,152210,0.000006569870573549701,0,0,,,15.2,,0.00,0.00,0.271,,,0,41444,0,0,1,15276,0,0,0,3470,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43049997-G-A,17,43049997,rs1410863353,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-803C>T,,c.5333-803C>T,intron_variant,,,,1,246168,0.000004062266419680868,0,0,,,16.2,,0.0100,0.0100,0.337,,,0,7178,0,0,1,7432,0,0,0,9236,0,0,0,22886,0,0,0,20806,0,0,0,1292,0,0,0,157940,0,0,,,,,0,3030,0,0,0,16368,0,0 -17-43050003-C-G,17,43050003,rs2051140009,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-809G>C,,c.5333-809G>C,intron_variant,,,,2,398340,0.000005020836471356128,0,0,,,11.1,,0.0100,0.0100,0.340,,,0,48610,0,0,0,22698,0,0,0,12704,0,0,0,28082,0,0,1,31418,0,0,0,1608,0,0,1,225982,0,0,0,912,0,0,0,7864,0,0,0,18462,0,0 -17-43050010-A-G,17,43050010,rs2051140503,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-816T>C,,c.5333-816T>C,intron_variant,,,,1,152212,0.000006569784248285286,0,0,,,13.2,,0.00,0.0100,0.271,,,0,41448,0,0,0,15270,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43050016-T-C,17,43050016,rs2051140746,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-822A>G,,c.5333-822A>G,intron_variant,,,,4,398368,0.000010040967145955499,0,0,nfe,0.00000353,16.9,,0.00,0.00,0.272,,,0,48600,0,0,1,22688,0,0,0,12708,0,0,0,28096,0,0,0,31428,0,0,0,1610,0,0,3,226018,0,0,0,912,0,0,0,7852,0,0,0,18456,0,0 -17-43050019-A-C,17,43050019,rs1429740665,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-825T>G,,c.5333-825T>G,intron_variant,,,,4,398494,0.000010037792287964186,0,0,nfe,0.00000514,16.3,,0.0100,0.0100,0.271,,,0,48632,0,0,0,22700,0,0,0,12708,0,0,0,28098,0,0,0,31444,0,0,0,1608,0,0,4,226068,0,0,0,912,0,0,0,7862,0,0,0,18462,0,0 -17-43050020-A-T,17,43050020,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-826T>A,,c.5333-826T>A,intron_variant,,,,5,246272,0.00002030275467775468,0,0,nfe,0.0000021000000000000002,13.7,,0.00,0.0100,0.271,,,0,7180,0,0,0,7434,0,0,0,9238,0,0,0,22890,0,0,3,20820,0,0,0,1294,0,0,2,158016,0,0,,,,,0,3032,0,0,0,16368,0,0 -17-43050025-A-G,17,43050025,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-831T>C,,c.5333-831T>C,intron_variant,,,,1,246288,0.000004060287143506789,0,0,,,16.4,,0.00,0.0100,0.271,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22892,0,0,0,20820,0,0,0,1294,0,0,1,158026,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050026-A-G,17,43050026,rs869312514,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-832T>C,,c.5333-832T>C,intron_variant,Likely benign,223561,,4,398642,0.000010034065652891566,0,0,,,15.3,,0.00,0.0100,0.271,,,0,48758,0,0,0,22724,0,0,0,12712,0,0,1,28078,0,0,1,31440,0,0,0,1588,0,0,1,226082,0,0,0,912,0,0,0,7866,0,0,1,18482,0,0 -17-43050028-T-A,17,43050028,rs1265220829,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-834A>T,,c.5333-834A>T,intron_variant,,,,3,398550,0.0000075272864132480244,0,0,afr,0.00001633,11.6,,0.0200,0.0100,0.272,,,3,48720,0,0,0,22720,0,0,0,12712,0,0,0,28076,0,0,0,31424,0,0,0,1588,0,0,0,226054,0,0,0,912,0,0,0,7860,0,0,0,18484,0,0 -17-43050032-A-G,17,43050032,rs1166346080,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-838T>C,,c.5333-838T>C,intron_variant,,,,1,152200,0.00000657030223390276,0,0,,,10.4,,0.00,0.00,-0.722,,,0,41446,0,0,1,15274,0,0,0,3468,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43050037-A-G,17,43050037,rs1421517134,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-843T>C,,c.5333-843T>C,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,8.10,,0.00,0.00,0.271,,,0,41466,0,0,1,15268,0,0,0,3470,0,0,0,5202,0,0,0,10630,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43050038-TAA-T,17,43050038,,TAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-846_5333-845del,,c.5333-846_5333-845del,intron_variant,,,,1,246304,0.000004060023385734702,0,0,,,8.39,,0.00,0.00,0.272,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050038-T-G,17,43050038,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-844A>C,,c.5333-844A>C,intron_variant,,,,1,246304,0.000004060023385734702,0,0,,,8.83,,0.0100,0.0100,0.272,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050041-A-G,17,43050041,rs1412646437,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-847T>C,,c.5333-847T>C,intron_variant,,,,2,398534,0.000005018392408175965,0,0,,,9.67,,0.00,0.00,0.257,,,0,48652,0,0,0,22714,0,0,0,12710,0,0,0,28094,0,0,0,31442,0,0,0,1610,0,0,2,226082,0,0,0,912,0,0,0,7856,0,0,0,18462,0,0 -17-43050044-G-A,17,43050044,rs987100397,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-850C>T,,c.5333-850C>T,intron_variant,,,,8,398472,0.000020076692967134452,0,0,nfe,0.000013860000000000001,13.9,,0.0400,0.0500,0.337,,,0,48624,0,0,1,22698,0,0,0,12710,0,0,0,28092,0,0,0,31432,0,0,0,1610,0,0,7,226078,0,0,0,912,0,0,0,7860,0,0,0,18456,0,0 -17-43050045-G-A,17,43050045,rs910797697,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-851C>T,,c.5333-851C>T,intron_variant,,,,12,398456,0.000030116248720059428,0,0,nfe,0.000030269999999999996,15.8,,0.0300,0.0800,1.31,,,0,48622,0,0,0,22712,0,0,0,12708,0,0,0,28092,0,0,0,31426,0,0,0,1610,0,0,12,226062,0,0,0,912,0,0,0,7854,0,0,0,18458,0,0 -17-43050047-T-A,17,43050047,rs879684388,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-853A>T,,c.5333-853A>T,intron_variant,,,,20,398472,0.00005019173241783613,0,0,nfe,0.00005069,11.8,,0.0100,0.0300,0.272,,,1,48632,0,0,1,22696,0,0,0,12708,0,0,0,28094,0,0,0,31422,0,0,0,1610,0,0,18,226078,0,0,0,910,0,0,0,7860,0,0,0,18462,0,0 -17-43050052-A-G,17,43050052,rs866206672,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-858T>C,,c.5333-858T>C,intron_variant,,,,1,246302,0.000004060056353582188,0,0,,,7.89,,0.0300,0.00,0.126,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050061-C-CCATCCTCTTTATTAGTTATCA,17,43050061,,C,CCATCCTCTTTATTAGTTATCA,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Tyr11delinsLeuIleThrAsnLysGluAspAsp,p.Tyr11delinsLeuIleThrAsnLysGluAspAsp,c.31_31+1insTGATAACTAATAAAGAGGATG,protein_altering_variant,,,,1,246310,0.000004059924485404571,0,0,,,3.24,,0.350,0.350,-1.24,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050061-C-T,17,43050061,rs2051142722,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.31+1G>A,,c.31+1G>A,splice_donor_variant,,,,2,246310,0.000008119848970809143,0,0,,,4.04,,0.00,0.0100,-1.24,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20824,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,1,16370,0,0 -17-43050063-T-C,17,43050063,,T,C,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Gln10Gln,p.Gln10Gln,c.30A>G,splice_region_variant,Likely benign,1879372,,1,246302,0.000004060056353582188,0,0,,,6.43,,0.00,0.00,-1.10,,,0,7178,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158036,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050066-C-G,17,43050066,,C,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Leu9Leu,p.Leu9Leu,c.27G>C,synonymous_variant,,,,1,246314,0.00000405985855452796,0,0,,,7.12,,0.00,0.00,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,1,158044,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050066-C-T,17,43050066,rs2051142853,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Leu9Leu,p.Leu9Leu,c.27G>A,synonymous_variant,,,,1,246314,0.00000405985855452796,0,0,,,6.39,,0.0200,0.0200,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20826,0,0,0,1294,0,0,0,158044,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050068-G-GAAATTT,17,43050068,,G,GAAATTT,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Trp8_Leu9insLysPhe,p.Trp8_Leu9insLysPhe,c.24_25insAAATTT,inframe_insertion,,,,1,246308,0.000004059957451645907,0,0,,,0.675,,0.0200,0.0900,0.337,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050082-C-T,17,43050082,rs1490512430,C,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,p.Ser4Asn,p.Ser4Asn,c.11G>A,missense_variant,,,,1,152192,0.000006570647603027754,0,0,,,7.24,,0.0400,0.0500,0.545,,,0,41440,0,0,1,15266,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43050089-T-G,17,43050089,rs1267110099,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,p.Ser2Arg,p.Ser2Arg,c.4A>C,missense_variant,,,,2,398524,0.000005018518332647469,0,0,,,9.28,,0.0800,0.00,0.865,,,0,48628,0,0,0,22698,0,0,0,12708,0,0,0,28100,0,0,1,31444,0,0,0,1610,0,0,1,226092,0,0,0,912,0,0,0,7866,0,0,0,18466,0,0 -17-43050091-A-G,17,43050091,rs2051143369,A,G,gnomAD Genomes,NA,PASS,ENST00000591849.5,p.Met1?,p.Met1?,c.2T>C,start_lost,,,,1,152204,0.000006570129562954982,0,0,,,9.72,,0.130,0.0800,-0.300,,,0,41454,0,0,0,15262,0,0,0,3470,0,0,0,5202,0,0,0,10626,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,1,4836,0,0,0,2094,0,0 -17-43050097-C-T,17,43050097,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-5G>A,,c.-5G>A,5_prime_UTR_variant,,,,1,246318,0.000004059792625792675,0,0,,,10.1,,0.120,0.140,0.214,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158048,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050100-T-C,17,43050100,rs2051143504,T,C,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-8A>G,,c.-8A>G,5_prime_UTR_variant,,,,1,246326,0.000004059660774745662,0,0,,,7.89,,0.0700,0.0900,-0.699,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158054,0,0,,,,,0,3032,0,0,0,16372,0,0 -17-43050100-T-G,17,43050100,,T,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-8A>C,,c.-8A>C,5_prime_UTR_variant,,,,1,246326,0.000004059660774745662,0,0,,,7.15,,0.0100,0.0300,-0.699,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20826,0,0,0,1294,0,0,0,158054,0,0,,,,,0,3032,0,0,0,16372,0,0 -17-43050101-G-A,17,43050101,rs556776893,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-9C>T,,c.-9C>T,5_prime_UTR_variant,,,,1,246320,0.000004059759662227996,0,0,,,9.12,,0.00,0.00,1.25,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158050,0,0,,,,,0,3030,0,0,1,16372,0,0 -17-43050103-C-T,17,43050103,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-11G>A,,c.-11G>A,5_prime_UTR_variant,,,,1,246318,0.000004059792625792675,0,0,,,4.54,,0.0200,0.0400,0.0270,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,1,1294,0,0,0,158050,0,0,,,,,0,3032,0,0,0,16368,0,0 -17-43050106-G-A,17,43050106,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-14C>T,,c.-14C>T,5_prime_UTR_variant,,,,3,246312,0.000012179674559095781,0,0,nfe,0.0000021000000000000002,6.28,,0.00,0.00,1.65,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,2,158044,0,0,,,,,0,3032,0,0,1,16370,0,0 -17-43050109-G-A,17,43050109,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-17C>T,,c.-17C>T,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,9.32,,0.00,0.00,0.942,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20822,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050110-C-T,17,43050110,rs2051143781,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-18G>A,,c.-18G>A,5_prime_UTR_variant,,,,1,246310,0.000004059924485404571,0,0,,,8.40,,0.0400,0.0500,2.05,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050115-G-T,17,43050115,,G,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-23C>A,,c.-23C>A,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,10.2,,0.00,0.0700,0.950,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20822,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,1,16370,0,0 -17-43050117-C-T,17,43050117,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-25G>A,,c.-25G>A,5_prime_UTR_variant,,,,1,246306,0.0000040599904184226125,0,0,,,6.11,,0.00,0.0400,0.711,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050118-T-C,17,43050118,rs1038351454,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,c.-26A>G,,c.-26A>G,5_prime_UTR_variant,,,,3,398462,0.000007528948808167403,0,0,nfe,0.0000014700000000000001,0.0880,,0.00,0.00,-1.78,,,0,48608,0,0,0,22694,0,0,0,12712,0,0,0,28090,0,0,0,31440,0,0,0,1610,0,0,2,226078,0,0,0,910,0,0,0,7862,0,0,1,18458,0,0 -17-43050121-C-T,17,43050121,rs1312286338,C,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-29G>A,,c.-29G>A,5_prime_UTR_variant,,,,1,152180,0.000006571165724799579,0,0,,,0.757,,0.00,0.0200,-0.0290,,,1,41440,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,908,0,0,0,4828,0,0,0,2094,0,0 -17-43050126-A-G,17,43050126,rs1454299109,A,G,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-34T>C,,c.-34T>C,5_prime_UTR_variant,,,,1,152148,0.000006572547782422378,0,0,,,9.62,,0.00,0.0200,0.597,,,0,41430,0,0,1,15266,0,0,0,3472,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43050130-G-A,17,43050130,rs1352552177,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,c.-38C>T,,c.-38C>T,5_prime_UTR_variant,,,,3,398486,0.000007528495354918366,0,0,nfe,0.00000353,4.26,,0.00,0.00,-1.25,,,0,48624,0,0,0,22700,0,0,0,12712,0,0,0,28092,0,0,0,31438,0,0,0,1612,0,0,3,226076,0,0,0,910,0,0,0,7860,0,0,0,18462,0,0 -17-43050133-A-G,17,43050133,,A,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-41T>C,,c.-41T>C,5_prime_UTR_variant,,,,1,246314,0.00000405985855452796,0,0,,,11.0,,0.00,0.0900,0.661,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22896,0,0,0,20828,0,0,0,1296,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 -17-43050140-C-A,17,43050140,,C,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-48G>T,,c.-48G>T,5_prime_UTR_variant,,,,2,246304,0.000008120046771469403,0,0,,,7.69,,0.0600,0.120,1.42,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158034,0,0,,,,,1,3032,0,0,0,16370,0,0 -17-43050147-C-T,17,43050147,rs2051145038,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-55G>A,,c.-55G>A,5_prime_UTR_variant,,,,1,246310,0.000004059924485404571,0,0,,,6.90,,0.0100,0.0400,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158042,0,0,,,,,0,3030,0,0,0,16370,0,0 -17-43050150-G-A,17,43050150,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-58C>T,,c.-58C>T,5_prime_UTR_variant,,,,2,246296,0.00000812031052067431,0,0,nfe,0.0000021000000000000002,13.2,,0.00,0.00,-0.556,,,0,7180,0,0,0,7434,0,0,0,9238,0,0,0,22894,0,0,0,20818,0,0,0,1296,0,0,2,158040,0,0,,,,,0,3028,0,0,0,16368,0,0 -17-43050150-G-T,17,43050150,rs2051145306,G,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-58C>A,,c.-58C>A,5_prime_UTR_variant,,,,1,152200,0.00000657030223390276,0,0,,,11.9,,0.0300,0.0600,-0.556,,,1,41456,0,0,0,15268,0,0,0,3472,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43050153-C-A,17,43050153,,C,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-61G>T,,c.-61G>T,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,1.88,,0.00,0.00,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16368,0,0 -17-43050167-G-A,17,43050167,rs2051145679,G,A,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-75C>T,,c.-75C>T,5_prime_UTR_variant,,,,1,152194,0.000006570561257342603,0,0,,,6.85,,0.00,0.00,0.337,,,0,41450,0,0,0,15274,0,0,0,3466,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,910,0,0,0,4838,0,0,0,2090,0,0 -17-43050988-G-T,17,43050988,rs536980757,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+75C>A,,c.5332+75C>A,intron_variant,,,,44,1437486,0.00003060899375715659,0,0,sas,0.0003755100000000001,0.233,,0.00,0.00,-0.801,,,0,71226,0,0,0,59344,0,0,0,28460,0,0,0,43970,0,0,0,63530,0,0,0,5650,0,0,0,1020538,0,0,0,912,0,0,43,87188,0,0,1,56668,0,0 -17-43050989-G-A,17,43050989,rs1441333841,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+74C>T,,c.5332+74C>T,intron_variant,,,,1,152094,0.000006574881323392112,0,0,,,2.22,,0.00,0.00,0.0660,,,0,41402,0,0,0,15260,0,0,0,3472,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43050991-T-A,17,43050991,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+72A>T,,c.5332+72A>T,intron_variant,,,,1,680268,0.0000014700088788536283,0,0,,,3.80,,0.00,0.00,-0.604,,,0,12482,0,0,0,758,0,0,0,4266,0,0,0,2838,0,0,0,238,0,0,0,1334,0,0,0,622714,0,0,,,,,1,13390,0,0,0,22248,0,0 -17-43050993-T-G,17,43050993,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+70A>C,,c.5332+70A>C,intron_variant,,,,1,627158,0.0000015944945292892701,0,0,,,4.93,,0.00,0.00,0.0450,,,0,17664,0,0,0,43492,0,0,1,20916,0,0,0,36054,0,0,0,52908,0,0,0,4080,0,0,0,349460,0,0,,,,,0,69558,0,0,0,33026,0,0 -17-43050995-G-A,17,43050995,rs1597804012,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+68C>T,,c.5332+68C>T,intron_variant,,,,2,1334462,0.0000014987313239342896,0,0,eas,0.00000849,0.283,,0.0100,0.0300,-0.650,,,0,30734,0,0,0,44324,0,0,0,25312,0,0,2,39040,0,0,0,53124,0,0,0,5486,0,0,0,996742,0,0,,,,,0,83532,0,0,0,56168,0,0 -17-43050996-C-T,17,43050996,rs2051188419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+67G>A,,c.5332+67G>A,intron_variant,,,,2,1344200,0.0000014878738282993602,0,0,,,2.35,,0.00,0.00,-0.235,,,1,30930,0,0,0,44380,0,0,0,25382,0,0,0,39090,0,0,0,53184,0,0,0,5492,0,0,1,1005500,0,0,,,,,0,83726,0,0,0,56516,0,0 -17-43050998-T-G,17,43050998,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+65A>C,,c.5332+65A>C,intron_variant,,,,5,726296,0.000006884245541762587,0,0,nfe,0.0000022,3.99,,0.00,0.00,-0.00400,,,0,13446,0,0,0,836,0,0,0,4524,0,0,0,3084,0,0,0,258,0,0,0,1422,0,0,5,664696,0,0,,,,,0,14280,0,0,0,23750,0,0 -17-43050999-A-G,17,43050999,rs56131654,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+64T>C,,c.5332+64T>C,intron_variant,,,,5,1356668,0.0000036855000633906012,0,0,eas,0.00003479999999999999,0.0120,,0.00,0.00,-6.59,,,0,31186,0,0,0,44444,0,0,0,25496,0,0,4,39156,0,0,0,53232,0,0,0,5516,0,0,0,1016692,0,0,,,,,1,84036,0,0,0,56910,0,0 -17-43051003-T-C,17,43051003,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+60A>G,,c.5332+60A>G,intron_variant,,,,1,1366612,7.317365865366322e-7,0,0,,,0.109,,0.00,0.00,-1.39,,,0,31450,0,0,0,44520,0,0,0,25574,0,0,0,39232,0,0,0,53270,0,0,0,5558,0,0,1,1025536,0,0,,,,,0,84288,0,0,0,57184,0,0 -17-43051003-T-TA,17,43051003,rs2051188708,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+59dup,,c.5332+59dup,intron_variant,,,,7,1518754,0.000004609041358903417,0,0,amr,0.000054509999999999985,0.561,,0.00,0.00,-1.39,,,0,72874,0,0,7,59788,0,0,0,29046,0,0,0,44422,0,0,0,63876,0,0,0,5874,0,0,0,1093568,0,0,0,912,0,0,0,89118,0,0,0,59276,0,0 -17-43051005-C-T,17,43051005,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+58G>A,,c.5332+58G>A,intron_variant,,,,3,628174,0.000004775746847211123,0,0,nfe,9.5e-7,2.64,,0.00,0.00,-0.693,,,0,17686,0,0,0,43660,0,0,0,20958,0,0,1,36068,0,0,0,53032,0,0,0,4102,0,0,2,349872,0,0,,,,,0,69720,0,0,0,33076,0,0 -17-43051007-C-T,17,43051007,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+56G>A,,c.5332+56G>A,intron_variant,,,,1,628252,0.0000015917179730426644,0,0,,,1.61,,0.00,0.00,0.930,,,0,17686,0,0,0,43660,0,0,0,20962,0,0,0,36066,0,0,0,53050,0,0,0,4108,0,0,1,349910,0,0,,,,,0,69732,0,0,0,33078,0,0 -17-43051011-T-A,17,43051011,rs772224921,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+52A>T,,c.5332+52A>T,intron_variant,,,,41,1550078,0.00002645028185678398,0,0,nfe,0.00002718,0.371,,0.00,0.00,-0.440,,,0,73456,0,0,0,59850,0,0,0,29236,0,0,0,44566,0,0,0,63932,0,0,0,5938,0,0,41,1122034,0,0,0,912,0,0,0,89742,0,0,0,60412,0,0 -17-43051019-A-C,17,43051019,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+44T>G,,c.5332+44T>G,intron_variant,,,,1,1429372,6.996079397105861e-7,0,0,,,5.42,,0.00,0.00,0.479,,,0,32740,0,0,0,44668,0,0,0,25990,0,0,0,39558,0,0,0,53368,0,0,0,5678,0,0,1,1082426,0,0,,,,,0,85608,0,0,0,59336,0,0 -17-43051027-T-C,17,43051027,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+36A>G,,c.5332+36A>G,intron_variant,,,,2,1442794,0.0000013861992772356969,0,0,nfe,2.999999999999999e-7,8.94,,0.00,0.00,0.279,,,0,33062,0,0,0,44694,0,0,0,26050,0,0,0,39638,0,0,0,53390,0,0,0,5716,0,0,2,1094616,0,0,,,,,0,85872,0,0,0,59756,0,0 -17-43051028-G-A,17,43051028,rs1331415640,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+35C>T,,c.5332+35C>T,intron_variant,,,,1,1443746,6.926426116505258e-7,0,0,,,3.91,,0.00,0.00,1.19,,,0,33092,0,0,0,44698,0,0,0,26052,0,0,0,39638,0,0,0,53386,0,0,0,5722,0,0,1,1095476,0,0,,,,,0,85904,0,0,0,59778,0,0 -17-43051030-T-G,17,43051030,rs1376099117,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+33A>C,,c.5332+33A>C,intron_variant,,,,1,1448202,6.905114065579249e-7,0,0,,,3.99,,0.00,0.00,0.0350,,,0,33212,0,0,0,44702,0,0,0,26078,0,0,0,39650,0,0,0,53388,0,0,0,5716,0,0,0,1099548,0,0,,,,,0,85974,0,0,1,59934,0,0 -17-43051031-G-A,17,43051031,rs780795747,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+32C>T,,c.5332+32C>T,intron_variant,,,,5,1449524,0.000003449408219525858,0,0,nfe,8.500000000000001e-7,2.77,,0.00,0.00,0.824,,,0,33220,0,0,0,44708,0,0,0,26082,0,0,0,39660,0,0,0,53388,0,0,0,5718,0,0,4,1100758,0,0,,,,,0,86014,0,0,1,59976,0,0 -17-43051033-TG-T,17,43051033,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+29del,,c.5332+29del,intron_variant,,,,1,1452948,6.882558770169339e-7,0,0,,,1.27,,0.00,0.0100,0.850,,,0,33312,0,0,0,44716,0,0,0,26104,0,0,0,39668,0,0,0,53392,0,0,0,5738,0,0,1,1103836,0,0,,,,,0,86092,0,0,0,60090,0,0 -17-43051034-G-A,17,43051034,rs2051189713,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+29C>T,,c.5332+29C>T,intron_variant,,,,1,152116,0.000006573930421520419,0,0,,,3.42,,0.00,0.00,1.04,,,0,41428,0,0,0,15266,0,0,0,3468,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4818,0,0,0,2086,0,0 -17-43051035-G-C,17,43051035,rs745573228,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+28C>G,,c.5332+28C>G,intron_variant,,,,1,1454606,6.874713840036408e-7,0,0,,,3.32,,0.00,0.00,2.54,,,0,33344,0,0,0,44716,0,0,0,26104,0,0,0,39674,0,0,0,53394,0,0,0,5736,0,0,1,1105382,0,0,,,,,0,86112,0,0,0,60144,0,0 -17-43051035-G-T,17,43051035,rs745573228,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+28C>A,,c.5332+28C>A,intron_variant,,,,1,1454606,6.874713840036408e-7,0,0,,,3.18,,0.00,0.00,2.54,,,0,33344,0,0,0,44716,0,0,0,26104,0,0,0,39674,0,0,0,53394,0,0,0,5736,0,0,1,1105382,0,0,,,,,0,86112,0,0,0,60144,0,0 -17-43051036-A-T,17,43051036,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+27T>A,,c.5332+27T>A,intron_variant,,,,3,1455098,0.000002061716805328576,0,0,nfe,7.200000000000001e-7,4.42,,0.00,0.00,0.246,,,0,33350,0,0,0,44718,0,0,0,26110,0,0,0,39676,0,0,0,53404,0,0,0,5738,0,0,3,1105816,0,0,,,,,0,86128,0,0,0,60158,0,0 -17-43051038-C-T,17,43051038,rs1379554952,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+25G>A,,c.5332+25G>A,intron_variant,,,,2,1456610,0.0000013730511255586602,0,0,amr,0.000007410000000000001,0.152,,0.00,0.00,-0.0670,,,0,33374,0,0,2,44718,0,0,0,26116,0,0,0,39682,0,0,0,53400,0,0,0,5748,0,0,0,1107214,0,0,,,,,0,86158,0,0,0,60200,0,0 -17-43051039-T-G,17,43051039,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+24A>C,,c.5332+24A>C,intron_variant,,,,1,628738,0.0000015904876116919926,0,0,,,0.0660,,0.00,0.00,-0.453,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53122,0,0,0,4140,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33096,0,0 -17-43051040-C-T,17,43051040,rs2051190177,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+23G>A,,c.5332+23G>A,intron_variant,not provided,868331,,1,628740,0.0000015904825524064001,0,0,,,0.222,,0.00,0.00,-1.20,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53126,0,0,0,4138,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43051040-C-G,17,43051040,rs2051190177,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+23G>C,,c.5332+23G>C,intron_variant,not provided,868332,,1,628740,0.0000015904825524064001,0,0,,,0.181,,0.00,0.00,-1.20,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53126,0,0,0,4138,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43051041-T-C,17,43051041,rs200407477,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+22A>G,,c.5332+22A>G,intron_variant,not provided,868012,,1,152286,0.000006566591807520061,0,0,,,0.965,,0.00,0.00,-2.50,,,0,41566,0,0,0,15290,0,0,0,3472,0,0,1,5182,0,0,0,10618,0,0,0,294,0,0,0,68012,0,0,0,912,0,0,0,4830,0,0,0,2110,0,0 -17-43051042-G-C,17,43051042,rs1187854390,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+21C>G,,c.5332+21C>G,intron_variant,not provided,868009,,2,1610588,0.0000012417825042779407,0,0,,,4.84,,0.00,0.00,0.348,,,0,74846,0,0,0,59996,0,0,0,29598,0,0,0,44876,0,0,0,64010,0,0,0,6070,0,0,2,1176900,0,0,0,912,0,0,0,91024,0,0,0,62356,0,0 -17-43051043-G-T,17,43051043,rs1057521961,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+20C>A,,c.5332+20C>A,intron_variant,Likely benign,384462,,3,628740,0.0000047714476572192,0,0,nfe,0.00000228,0.0840,,0.00,-0.0100,-0.0790,,,0,17690,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53132,0,0,0,4138,0,0,3,350094,0,0,,,,,0,69798,0,0,0,33094,0,0 -17-43051044-G-A,17,43051044,rs774813458,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+19C>T,,c.5332+19C>T,intron_variant,Benign/Likely benign,377574,,10,1459198,0.000006853079568365636,0,0,nfe,2.999999999999999e-7,5.36,,0.00,-0.0100,1.16,,,0,33434,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,7,53404,0,0,0,5756,0,0,2,1109550,0,0,,,,,0,86222,0,0,1,60292,0,0 -17-43051044-G-C,17,43051044,rs774813458,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+19C>G,,c.5332+19C>G,intron_variant,Likely benign,389458,,7,1459198,0.0000047971556978559455,0,0,nfe,0.0000026200000000000003,5.00,,0.00,-0.0100,1.16,,,0,33434,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,0,53404,0,0,0,5756,0,0,7,1109550,0,0,,,,,0,86222,0,0,0,60292,0,0 -17-43051048-C-G,17,43051048,rs80358148,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+15G>C,,c.5332+15G>C,intron_variant,Likely benign,125824,,35,1612494,0.000021705507121266807,0,0,nfe,0.00001997,3.19,,0.00,0.00,0.184,,,0,74872,0,0,0,59978,0,0,0,29602,0,0,0,44882,0,0,0,64016,0,0,0,6078,0,0,33,1178668,0,0,0,912,0,0,0,91058,0,0,2,62428,0,0 -17-43051049-T-C,17,43051049,rs2051191873,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+14A>G,,c.5332+14A>G,intron_variant,not provided,868321,,1,831938,0.0000012020126499811283,0,0,,,5.42,,0.00,0.00,1.57,,,0,15766,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,760822,0,0,,,,,0,16438,0,0,0,27256,0,0 -17-43051050-C-A,17,43051050,rs372391060,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+13G>T,,c.5332+13G>T,intron_variant,Benign/Likely benign,220900,,219,1613050,0.00013576764514429187,0,0,nfe,0.00015802,3.79,,0.00,-0.0200,0.651,,,2,74870,0,0,0,59984,0,0,0,29600,0,0,0,44886,0,0,0,64014,0,0,0,6074,0,0,210,1179194,0,0,0,912,0,0,0,91066,0,0,7,62450,0,0 -17-43051052-C-T,17,43051052,rs1258744250,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+11G>A,,c.5332+11G>A,intron_variant,Likely benign,764109,,1,1461182,6.843774423719975e-7,0,0,,,0.267,,0.00,-0.0200,-0.0880,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5754,0,0,1,1111372,0,0,,,,,0,86250,0,0,0,60372,0,0 -17-43051052-C-G,17,43051052,rs1258744250,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+11G>C,,c.5332+11G>C,intron_variant,not provided,868006,,1,1461182,6.843774423719975e-7,0,0,,,0.149,,0.00,0.00,-0.0880,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5754,0,0,1,1111372,0,0,,,,,0,86250,0,0,0,60372,0,0 -17-43051054-G-A,17,43051054,rs2051192763,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+9C>T,,c.5332+9C>T,intron_variant,Likely benign,868002,,2,832486,0.0000024024428038429473,0,0,nfe,4.4e-7,5.35,,0.00,0.00,0.751,,,0,15774,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,2,761330,0,0,,,,,0,16450,0,0,0,27278,0,0 -17-43051055-G-A,17,43051055,rs772616764,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+8C>T,,c.5332+8C>T,splice_region_variant,Likely benign,382499,,2,628748,0.000003180924631171789,0,0,sas,0.00000475,0.672,,0.00,0.00,0.0450,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4136,0,0,0,350106,0,0,,,,,2,69798,0,0,0,33094,0,0 -17-43051056-C-A,17,43051056,rs773655919,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+7G>T,,c.5332+7G>T,splice_region_variant,Conflicting interpretations of pathogenicity,491106,,6,1461420,0.00000410559592724884,0,0,sas,0.00002995,4.00,,0.00,0.00,0.140,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5762,0,0,0,1111596,0,0,,,,,6,86252,0,0,0,60376,0,0 -17-43051056-C-T,17,43051056,rs773655919,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+7G>A,,c.5332+7G>A,splice_region_variant,Likely benign,865606,,1,1461420,6.842659878748067e-7,0,0,,,3.92,,0.00,0.00,0.140,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5762,0,0,0,1111596,0,0,,,,,1,86252,0,0,0,60376,0,0 -17-43051059-T-A,17,43051059,rs80358166,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+4A>T,,c.5332+4A>T,intron_variant,not provided,865319,,1,1461526,6.842163601605445e-7,0,0,,,16.1,,0.0300,-0.120,4.08,,,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5758,0,0,1,1111686,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43051059-T-C,17,43051059,rs80358166,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+4A>G,,c.5332+4A>G,intron_variant,Conflicting interpretations of pathogenicity,125827,,24,1461526,0.00001642119264385307,0,0,nfe,0.00001012,15.5,,0.0300,-0.110,4.08,,,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,6,53418,0,0,0,5758,0,0,18,1111686,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43051060-T-C,17,43051060,rs766614917,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+3A>G,,c.5332+3A>G,intron_variant,Conflicting interpretations of pathogenicity,240820,,26,1613724,0.000016111801026693535,0,0,nfe,0.00001533,16.7,,0.0100,-0.0800,4.06,,,0,74902,0,0,0,60002,0,0,0,29606,0,0,0,44892,0,0,0,64024,0,0,0,6074,0,0,26,1179756,0,0,0,912,0,0,0,91082,0,0,0,62474,0,0 -17-43051062-C-G,17,43051062,rs80358041,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+1G>C,,c.5332+1G>C,splice_donor_variant,Pathogenic/Likely pathogenic,55528,,2,628760,0.0000031808639226413895,0,0,,,34.0,,0.990,-0.840,7.91,,,0,17692,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53138,0,0,0,4138,0,0,0,350102,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43051062-C-T,17,43051062,rs80358041,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+1G>A,,c.5332+1G>A,splice_donor_variant,Pathogenic,55527,,1,628760,0.0000015904319613206948,0,0,,,34.0,,0.990,-0.840,7.91,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53138,0,0,0,4138,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051064-T-C,17,43051064,rs1411246255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>G,splice_region_variant,not provided,867998,,3,628766,0.000004771250353867735,0,0,sas,0.00001141,20.4,,0.0200,-0.100,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,0,350102,0,0,,,,,3,69798,0,0,0,33098,0,0 -17-43051064-T-G,17,43051064,rs1411246255,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>C,splice_region_variant,not provided,867997,,1,628766,0.0000015904167846225783,0,0,,,18.6,,0.0200,-0.0600,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051064-T-A,17,43051064,rs1411246255,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>T,splice_region_variant,Benign/Likely benign,867999,,1,628766,0.0000015904167846225783,0,0,,,19.5,,0.0200,-0.140,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051067-G-A,17,43051067,rs759867616,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1776Pro,p.Pro1776Pro,c.5328C>T,synonymous_variant,Likely benign,185660,,11,1461660,0.0000075256899689394254,0,0,amr,0.00003233,10.1,,0.00,0.00,1.30,,,0,33476,0,0,5,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5756,0,0,6,1111810,0,0,,,,,0,86256,0,0,0,60388,0,0 -17-43051068-G-T,17,43051068,rs398122695,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1776His,p.Pro1776His,c.5327C>A,missense_variant,Conflicting interpretations of pathogenicity,246175,,1,1461714,6.841283588992101e-7,0,0,,,26.4,0.564,0.00,0.00,7.82,0.100,0.600,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5760,0,0,1,1111858,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43051068-G-A,17,43051068,rs398122695,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1776Leu,p.Pro1776Leu,c.5327C>T,missense_variant,Conflicting interpretations of pathogenicity,91647,,5,1613824,0.0000030982312817258883,0,0,eas,0.00000738,27.0,0.631,0.00,0.00,7.82,0.0100,0.0130,0,74894,0,0,1,59988,0,0,0,29608,0,0,2,44892,0,0,0,64016,0,0,0,6076,0,0,1,1179870,0,0,0,912,0,0,0,91084,0,0,1,62484,0,0 -17-43051070-C-A,17,43051070,rs1135401885,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Ile,p.Met1775Ile,c.5325G>T,missense_variant,Uncertain significance,865306,,1,833004,0.0000012004744274937455,0,0,,,24.9,0.606,0.00,0.00,7.91,0.00,0.210,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761804,0,0,,,,,1,16456,0,0,0,27298,0,0 -17-43051071-A-C,17,43051071,rs41293463,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1775Arg,p.Met1775Arg,c.5324T>G,missense_variant,Pathogenic,17694,,5,780904,0.000006402835687869443,0,0,afr,0.000032689999999999994,27.2,0.728,0.00,-0.0100,5.64,0.00,0.806,5,59126,0,0,0,59010,0,0,0,24454,0,0,0,41260,0,0,0,63748,0,0,0,4456,0,0,0,418124,0,0,0,910,0,0,0,74626,0,0,0,35190,0,0 -17-43051071-ATGT-A,17,43051071,,ATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1774del,p.Asn1774del,c.5321_5323del,inframe_deletion,,,,1,628760,0.0000015904319613206948,0,0,,,19.8,,0.0100,-0.0300,5.64,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4140,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051072-T-C,17,43051072,rs2051198464,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Val,p.Met1775Val,c.5323A>G,missense_variant,Likely pathogenic,868306,,1,833030,0.0000012004369590530953,0,0,,,24.8,0.669,0.00,0.00,5.67,0.00,0.0370,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761828,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43051072-T-A,17,43051072,rs2051198464,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Leu,p.Met1775Leu,c.5323A>T,missense_variant,not provided,868307,,1,833030,0.0000012004369590530953,0,0,,,25.5,0.618,0.00,-0.0100,5.67,0.00,0.0980,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761828,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43051076-G-C,17,43051076,rs1555575689,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1773Thr,p.Thr1773Thr,c.5319C>G,synonymous_variant,Likely benign,514634,,6,1461798,0.000004104534279018031,0,0,nfe,0.00000194,8.12,,0.00,-0.0100,2.18,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,6,1111930,0,0,,,,,0,86258,0,0,0,60392,0,0 -17-43051077-G-A,17,43051077,rs80357428,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1773Ile,p.Thr1773Ile,c.5318C>T,missense_variant,Conflicting interpretations of pathogenicity,55522,,9,1461820,0.000006156708760312487,0,0,eas,0.00008197999999999997,24.8,0.676,0.00,0.00,2.76,0.130,0.356,0,33478,0,0,0,44724,0,0,0,26134,0,0,7,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111952,0,0,,,,,0,86256,0,0,1,60396,0,0 -17-43051078-T-A,17,43051078,rs80357324,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1773Ser,p.Thr1773Ser,c.5317A>T,missense_variant,Conflicting interpretations of pathogenicity,55521,,19,1613864,0.000011772987067063891,0,0,nfe,0.0000103,23.7,0.682,0.00,-0.0200,3.15,0.0100,0.106,0,74872,0,0,0,59982,0,0,0,29606,0,0,0,44878,0,0,0,64010,0,0,0,6082,0,0,19,1179958,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 -17-43051080-A-C,17,43051080,rs1555575700,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1772Cys,p.Phe1772Cys,c.5315T>G,missense_variant,Conflicting interpretations of pathogenicity,462669,,1,628766,0.0000015904167846225783,0,0,,,29.4,0.844,0.00,-0.0200,5.64,0.00,0.00700,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53134,0,0,0,4146,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051082-G-A,17,43051082,rs1131692076,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1771Pro,p.Pro1771Pro,c.5313C>T,synonymous_variant,Likely benign,427261,,1,628776,0.0000015903914907693677,0,0,,,5.73,,0.00,-0.0300,0.548,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4146,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051084-GC-G,17,43051084,rs80357581,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1772SerfsTer21,p.Phe1772SerfsTer21,c.5310del,frameshift_variant,Pathogenic,55516,,1,1461816,6.840806230059049e-7,0,0,,,22.7,,0.0100,-0.0300,7.82,,,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53412,0,0,1,5768,0,0,0,1111950,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43051084-G-C,17,43051084,rs576727185,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro1771Ala,p.Pro1771Ala,c.5311C>G,missense_variant,not provided,868298,,1,152256,0.000006567885666246322,0,0,,,25.0,0.706,0.00,0.00,7.82,,,0,41554,0,0,0,15290,0,0,0,3468,0,0,0,5184,0,0,0,10610,0,0,0,294,0,0,0,68014,0,0,0,912,0,0,1,4816,0,0,0,2114,0,0 -17-43051085-C-T,17,43051085,rs273901761,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1770Gly,p.Gly1770Gly,c.5310G>A,synonymous_variant,Likely benign,55515,,14,1613758,0.000008675402383752707,0,0,eas,0.00015394999999999997,3.55,,0.0100,0.00,-0.548,,,0,74824,0,0,0,59978,0,0,0,29602,0,0,12,44882,0,0,0,63978,0,0,0,6078,0,0,2,1179946,0,0,0,912,0,0,0,91084,0,0,0,62474,0,0 -17-43051085-C-G,17,43051085,rs273901761,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1770Gly,p.Gly1770Gly,c.5310G>C,synonymous_variant,Likely benign,219830,,1,151942,0.000006581458714509484,0,0,,,3.02,,0.00,0.00,-0.548,,,1,41346,0,0,0,15254,0,0,0,3466,0,0,0,5184,0,0,0,10566,0,0,0,316,0,0,0,67990,0,0,0,912,0,0,0,4826,0,0,0,2082,0,0 -17-43051086-C-A,17,43051086,rs863224765,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1770Val,p.Gly1770Val,c.5309G>T,missense_variant,Pathogenic,417832,,2,628770,0.000003180813333969496,0,0,,,24.6,0.835,0.00,-0.0200,4.76,0.00,0.142,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4142,0,0,0,350102,0,0,,,,,1,69798,0,0,1,33098,0,0 -17-43051089-T-C,17,43051089,rs397509257,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1769Cys,p.Tyr1769Cys,c.5306A>G,missense_variant,Conflicting interpretations of pathogenicity,55513,,75,1613850,0.000046472720513058835,1,0,sas,0.0006429800000000001,17.2,0.561,0.00,-0.0100,1.96,0.230,0.00300,0,74874,0,0,0,59978,0,0,0,29608,0,0,1,44872,0,0,0,64012,0,0,0,6080,0,0,1,1179958,0,0,0,912,0,0,72,91074,1,0,1,62482,0,0 -17-43051091-G-A,17,43051091,rs138493864,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1768Cys,p.Cys1768Cys,c.5304C>T,synonymous_variant,Likely benign,182097,,42,1614104,0.0000260206281627454,0,0,afr,0.00041306,8.24,,0.00,-0.0400,0.621,,,41,75052,0,0,0,60010,0,0,0,29604,0,0,0,44882,0,0,0,64022,0,0,0,6060,0,0,1,1179968,0,0,0,912,0,0,0,91086,0,0,0,62508,0,0 -17-43051093-A-C,17,43051093,rs431825416,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1768Gly,p.Cys1768Gly,c.5302T>G,missense_variant,Uncertain significance,96948,,1,628774,0.0000015903965494756462,0,0,,,27.0,0.867,0.00,0.00,5.64,0.00,0.0120,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4144,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051095-C-G,17,43051095,rs1597804426,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1767Ser,p.Cys1767Ser,c.5300G>C,missense_variant,Uncertain significance,801087,,3,833066,0.000003601155250604394,0,0,nfe,0.00000105,24.1,0.767,0.00,0.00,5.04,0.00,0.0150,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,3,761864,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43051097-G-A,17,43051097,rs2051207482,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766Ile,p.Ile1766Ile,c.5298C>T,synonymous_variant,not provided,867968,,1,833042,0.0000012004196667154838,0,0,,,7.86,,0.00,-0.0300,2.22,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761842,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43051098-A-AT,17,43051098,rs1555575732,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766AsnfsTer64,p.Ile1766AsnfsTer64,c.5296dup,frameshift_variant,Pathogenic,481473,,1,833056,0.0000012003994929512542,0,0,,,34.0,,0.0300,0.0100,5.64,,,1,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761854,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43051099-T-C,17,43051099,rs886039314,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766Val,p.Ile1766Val,c.5296A>G,missense_variant,Conflicting interpretations of pathogenicity,265052,,1,628776,0.0000015903914907693677,0,0,,,15.4,0.414,0.00,0.00,1.05,0.350,0.103,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051103-T-C,17,43051103,rs2051209584,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Leu,p.Leu1764Leu,c.5292A>G,synonymous_variant,not provided,865270,,1,628772,0.0000015904016082141062,0,0,,,7.13,,0.00,0.0100,-0.705,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4146,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43051105-G-A,17,43051105,rs1295469179,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Leu,p.Leu1764Leu,c.5290C>T,synonymous_variant,,,,4,628772,0.000006361606432856425,0,0,,,8.61,,0.0100,-0.0300,2.58,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,4,53136,0,0,0,4144,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051105-G-T,17,43051105,rs1295469179,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Ile,p.Leu1764Ile,c.5290C>A,missense_variant,Uncertain significance,868288,,1,628772,0.0000015904016082141062,0,0,,,23.6,0.519,0.00,0.00,2.58,0.0100,0.0130,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4144,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051106-C-G,17,43051106,rs1022076404,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1763Gly,p.Gly1763Gly,c.5289G>C,synonymous_variant,Likely benign,485387,,2,152044,0.000013154086974823077,0,0,,,7.59,,0.00,0.0100,2.26,,,1,41386,0,0,1,15264,0,0,0,3470,0,0,0,5184,0,0,0,10586,0,0,0,316,0,0,0,68014,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43051106-C-T,17,43051106,rs1022076404,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1763Gly,p.Gly1763Gly,c.5289G>A,synonymous_variant,Likely benign,509994,,5,1461752,0.0000034205528708016136,0,0,nfe,8.4e-7,8.00,,0.00,0.00,2.26,,,1,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53408,0,0,0,5766,0,0,4,1111892,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43051107-C-A,17,43051107,rs80357007,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1763Val,p.Gly1763Val,c.5288G>T,missense_variant,Conflicting interpretations of pathogenicity,55507,,2,628770,0.000003180813333969496,0,0,nfe,9.5e-7,24.7,0.756,0.00,0.00,4.99,0.00,0.0180,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4144,0,0,2,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43051110-C-G,17,43051110,rs398122694,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1762Thr,p.Arg1762Thr,c.5285G>C,missense_variant,Uncertain significance,648860,,1,1461710,6.84130231030779e-7,0,0,,,16.2,0.553,0.00,0.00,-1.06,0.0100,0.124,0,33472,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53404,0,0,0,5766,0,0,0,1111866,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43051110-C-A,17,43051110,rs398122694,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1762Met,p.Arg1762Met,c.5285G>T,missense_variant,Conflicting interpretations of pathogenicity,91646,,4,1461710,0.000002736520924123116,0,0,nfe,8.4e-7,17.7,0.580,0.00,0.00,-1.06,0.00,0.570,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53404,0,0,0,5766,0,0,4,1111866,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43051115-G-T,17,43051115,rs750040616,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1760Ile,p.Ile1760Ile,c.5280C>A,splice_region_variant,Likely benign,186911,,2,1461516,0.0000013684420834257033,0,0,,,15.3,,0.00,-0.0300,3.38,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53412,0,0,2,5762,0,0,0,1111674,0,0,,,,,0,86252,0,0,0,60386,0,0 -17-43051118-C-T,17,43051118,rs80358099,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-1G>A,,c.5278-1G>A,splice_acceptor_variant,Pathogenic,55500,,1,628756,0.0000015904420792803568,0,0,,,34.0,,0.960,-0.840,7.91,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4142,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33096,0,0 -17-43051118-C-G,17,43051118,rs80358099,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-1G>C,,c.5278-1G>C,splice_acceptor_variant,Pathogenic,55501,,1,151980,0.000006579813133307014,0,0,,,34.0,,0.960,-0.840,7.91,,,0,41364,0,0,1,15258,0,0,0,3472,0,0,0,5186,0,0,0,10560,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4816,0,0,0,2090,0,0 -17-43051131-G-C,17,43051131,rs80358105,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-14C>G,,c.5278-14C>G,intron_variant,Benign,91645,,119,1611186,0.00007385863581237672,0,0,nfe,0.00007928,13.7,,0.0100,0.0100,0.608,,,3,74844,0,0,0,59998,0,0,0,29586,0,0,1,44884,0,0,0,64006,0,0,0,6070,0,0,111,1177488,0,0,0,912,0,0,0,91014,0,0,4,62384,0,0 -17-43051132-G-A,17,43051132,rs1320766010,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-15C>T,,c.5278-15C>T,intron_variant,not provided,867936,,1,152172,0.000006571511184712037,0,0,,,2.59,,0.00,0.00,-0.114,,,0,41448,0,0,1,15280,0,0,0,3470,0,0,0,5194,0,0,0,10614,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43051135-G-C,17,43051135,rs1555575750,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-18C>G,,c.5278-18C>G,intron_variant,Likely benign,491104,,1,152206,0.000006570043230884459,0,0,,,6.04,,0.00,0.00,0.272,,,0,41440,0,0,0,15278,0,0,0,3472,0,0,0,5194,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43051136-A-T,17,43051136,rs1597804604,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-19T>A,,c.5278-19T>A,intron_variant,Likely benign,700661,,2,1456632,0.0000013730303879085451,0,0,nfe,2.999999999999999e-7,4.40,,0.0300,-0.0100,0.954,,,0,33352,0,0,0,44718,0,0,0,26090,0,0,0,39680,0,0,0,53386,0,0,0,5752,0,0,2,1107276,0,0,,,,,0,86156,0,0,0,60222,0,0 -17-43051137-G-A,17,43051137,rs193149108,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-20C>T,,c.5278-20C>T,intron_variant,Likely benign,379110,,24,1608806,0.000014917895631915843,0,0,afr,0.00017678,2.45,,0.00,-0.0100,0.656,,,20,74916,0,0,2,60014,0,0,0,29558,0,0,0,44866,0,0,0,63994,0,0,0,6040,0,0,1,1175204,0,0,0,912,0,0,0,90972,0,0,1,62330,0,0 -17-43051139-G-A,17,43051139,rs185646848,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-22C>T,,c.5278-22C>T,intron_variant,Likely benign,371866,,229,1606502,0.0001425457297905636,1,0,amr,0.0032849300000000014,2.68,,0.00,0.00,-0.572,,,0,74878,0,0,221,59998,1,0,0,29546,0,0,0,44858,0,0,0,63990,0,0,0,6042,0,0,1,1173128,0,0,0,912,0,0,0,90926,0,0,7,62224,0,0 -17-43051139-G-C,17,43051139,rs185646848,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-22C>G,,c.5278-22C>G,intron_variant,not provided,868262,,3,1454188,0.0000020630069839663096,0,0,nfe,2.999999999999999e-7,2.77,,0.00,0.00,-0.572,,,0,33304,0,0,0,44708,0,0,0,26078,0,0,0,39670,0,0,0,53376,0,0,0,5748,0,0,2,1105098,0,0,,,,,0,86092,0,0,1,60114,0,0 -17-43051142-G-A,17,43051142,rs2051219503,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-25C>T,,c.5278-25C>T,intron_variant,,,,1,822690,0.0000012155246812286524,0,0,,,2.21,,0.00,0.00,1.73,,,0,15552,0,0,0,970,0,0,0,5084,0,0,0,3586,0,0,0,274,0,0,0,1604,0,0,1,752510,0,0,,,,,0,16230,0,0,0,26880,0,0 -17-43051143-G-C,17,43051143,rs2153090080,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-26C>G,,c.5278-26C>G,intron_variant,,,,2,1450250,0.0000013790725736941907,0,0,nfe,2.999999999999999e-7,3.69,,0.0100,-0.0200,-0.653,,,0,33234,0,0,0,44710,0,0,0,26062,0,0,0,39646,0,0,0,53358,0,0,0,5740,0,0,2,1101534,0,0,,,,,0,86004,0,0,0,59962,0,0 -17-43051144-A-C,17,43051144,rs1443477823,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-27T>G,,c.5278-27T>G,intron_variant,,,,5,1448740,0.0000034512749009484104,0,0,nfe,0.0000013299999999999998,9.47,,0.0400,-0.0400,1.22,,,0,33196,0,0,0,44708,0,0,0,26058,0,0,0,39628,0,0,0,53362,0,0,0,5736,0,0,5,1100142,0,0,,,,,0,85972,0,0,0,59938,0,0 -17-43051145-CAG-C,17,43051145,,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-30_5278-29del,,c.5278-30_5278-29del,intron_variant,,,,2,818428,0.000002443709159510672,0,0,nfe,4.4e-7,4.20,,0.00,0.0100,0.124,,,0,15466,0,0,0,968,0,0,0,5066,0,0,0,3552,0,0,0,274,0,0,0,1600,0,0,2,748584,0,0,,,,,0,16134,0,0,0,26784,0,0 -17-43051145-C-T,17,43051145,rs2153090370,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-28G>A,,c.5278-28G>A,intron_variant,,,,1,818428,0.000001221854579755336,0,0,,,0.356,,0.00,0.00,0.124,,,0,15466,0,0,0,968,0,0,0,5066,0,0,0,3552,0,0,0,274,0,0,0,1600,0,0,1,748584,0,0,,,,,0,16134,0,0,0,26784,0,0 -17-43051146-A-C,17,43051146,rs1209887182,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-29T>G,,c.5278-29T>G,intron_variant,,,,2,1593052,0.0000012554517994390642,0,0,,,8.96,,0.0200,-0.0300,0.658,,,0,74486,0,0,2,59964,0,0,0,29490,0,0,0,44784,0,0,0,63960,0,0,0,6038,0,0,0,1160978,0,0,0,912,0,0,0,90624,0,0,0,61816,0,0 -17-43051147-G-A,17,43051147,rs2153090602,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-30C>T,,c.5278-30C>T,intron_variant,,,,4,812394,0.000004923719279069023,0,0,nfe,0.00000126,3.02,,0.00,0.00,1.06,,,0,15334,0,0,0,956,0,0,0,5038,0,0,0,3518,0,0,0,270,0,0,0,1594,0,0,4,743048,0,0,,,,,0,16008,0,0,0,26628,0,0 -17-43051148-G-A,17,43051148,rs199858368,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-31C>T,,c.5278-31C>T,intron_variant,,,,14,1593762,0.000008784247585273083,0,0,nfe,0.00000624,6.07,,0.00,-0.0100,-0.280,,,0,74582,0,0,0,59958,0,0,0,29492,0,0,0,44772,0,0,0,63934,0,0,0,6016,0,0,13,1161614,0,0,0,912,0,0,0,90626,0,0,1,61856,0,0 -17-43051149-G-A,17,43051149,rs771092891,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-32C>T,,c.5278-32C>T,intron_variant,,,,4,1435588,0.00000278631473654001,0,0,eas,0.00003356,3.27,,0.00,-0.0100,0.366,,,0,32936,0,0,0,44676,0,0,0,26004,0,0,4,39556,0,0,0,53320,0,0,0,5714,0,0,0,1088184,0,0,,,,,0,85674,0,0,0,59524,0,0 -17-43051153-T-C,17,43051153,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-36A>G,,c.5278-36A>G,intron_variant,,,,1,791614,0.0000012632419335686331,0,0,,,1.91,,0.00,0.0100,-0.751,,,0,14888,0,0,0,930,0,0,0,4916,0,0,0,3414,0,0,0,264,0,0,0,1536,0,0,1,724108,0,0,,,,,0,15586,0,0,0,25972,0,0 -17-43051156-A-G,17,43051156,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-39T>C,,c.5278-39T>C,intron_variant,,,,1,1410178,7.091303367376317e-7,0,0,,,7.89,,0.0100,-0.0100,0.592,,,0,32374,0,0,0,44638,0,0,0,25828,0,0,0,39424,0,0,0,53244,0,0,0,5640,0,0,0,1065156,0,0,,,,,1,85180,0,0,0,58694,0,0 -17-43051160-AAGGAAAATCT-A,17,43051160,,AAGGAAAATCT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-53_5278-44del,,c.5278-53_5278-44del,intron_variant,,,,2,762550,0.0000026227788341748083,0,0,afr,0.00002414,10.8,,0.00,0.0100,2.73,,,2,14266,0,0,0,894,0,0,0,4738,0,0,0,3268,0,0,0,258,0,0,0,1492,0,0,0,697628,0,0,,,,,0,15020,0,0,0,24986,0,0 -17-43051162-G-A,17,43051162,rs776854280,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-45C>T,,c.5278-45C>T,intron_variant,,,,14,1531974,0.00000913853629369689,0,0,eas,0.00017237999999999997,6.74,,0.00,0.00,0.747,,,0,73096,0,0,0,59792,0,0,0,29114,0,0,13,44474,0,0,0,63732,0,0,0,5902,0,0,0,1105744,0,0,0,912,0,0,0,89418,0,0,1,59790,0,0 -17-43051163-GA-G,17,43051163,rs2051220870,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-47del,,c.5278-47del,intron_variant,,,,2,1380182,0.0000014490842512074496,0,0,eas,0.00000843,0.619,,0.00,0.0100,-0.546,,,0,31698,0,0,0,44532,0,0,0,25638,0,0,2,39294,0,0,0,53108,0,0,0,5586,0,0,0,1038012,0,0,,,,,0,84592,0,0,0,57722,0,0 -17-43051163-G-T,17,43051163,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-46C>A,,c.5278-46C>A,intron_variant,,,,1,1380182,7.245421256037248e-7,0,0,,,3.07,,0.00,0.00,-0.546,,,0,31698,0,0,0,44532,0,0,0,25638,0,0,0,39294,0,0,1,53108,0,0,0,5586,0,0,0,1038012,0,0,,,,,0,84592,0,0,0,57722,0,0 -17-43051166-A-G,17,43051166,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-49T>C,,c.5278-49T>C,intron_variant,,,,1,628116,0.0000015920626126384298,0,0,,,3.28,,0.00,-0.0200,0.489,,,1,17670,0,0,0,43664,0,0,0,20964,0,0,0,36070,0,0,0,52854,0,0,0,4102,0,0,0,349958,0,0,,,,,0,69764,0,0,0,33070,0,0 -17-43051168-T-C,17,43051168,rs957547480,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-51A>G,,c.5278-51A>G,intron_variant,,,,2,1367748,0.0000014622576673480787,0,0,nfe,3.200000000000001e-7,2.73,,0.0300,0.0200,-0.0180,,,0,31436,0,0,0,44482,0,0,0,25550,0,0,0,39240,0,0,0,53018,0,0,0,5556,0,0,2,1026854,0,0,,,,,0,84330,0,0,0,57282,0,0 -17-43051172-G-A,17,43051172,rs1309672012,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-55C>T,,c.5278-55C>T,intron_variant,,,,4,1348250,0.000002966808826256258,0,0,amr,0.00001793,10.8,,0.00,-0.0100,0.424,,,0,31018,0,0,3,44376,0,0,0,25420,0,0,0,39132,0,0,0,52844,0,0,0,5512,0,0,1,1009426,0,0,,,,,0,83924,0,0,0,56598,0,0 -17-43051176-T-C,17,43051176,rs2051221334,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-59A>G,,c.5278-59A>G,intron_variant,,,,1,626718,0.0000015956139763019413,0,0,,,12.3,,0.00,0.00,-0.0260,,,0,17646,0,0,1,43542,0,0,0,20930,0,0,0,36054,0,0,0,52446,0,0,0,4036,0,0,0,349408,0,0,,,,,0,69628,0,0,0,33028,0,0 -17-43051177-A-G,17,43051177,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-60T>C,,c.5278-60T>C,intron_variant,,,,1,698778,0.0000014310696673335452,0,0,,,13.8,,0.00,-0.0100,0.473,,,0,12874,0,0,0,818,0,0,0,4342,0,0,0,2932,0,0,0,242,0,0,0,1392,0,0,0,639590,0,0,,,,,1,13790,0,0,0,22798,0,0 -17-43051178-A-G,17,43051178,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-61T>C,,c.5278-61T>C,intron_variant,,,,1,626668,0.000001595741285656839,0,0,,,15.4,,0.00,-0.0100,2.01,,,0,17640,0,0,0,43508,0,0,0,20928,0,0,0,36056,0,0,0,52434,0,0,0,4022,0,0,0,349418,0,0,,,,,1,69636,0,0,0,33026,0,0 -17-43051180-A-G,17,43051180,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-63T>C,,c.5278-63T>C,intron_variant,,,,1,1309580,7.636035981001542e-7,0,0,,,11.8,,0.00,0.00,0.153,,,0,30232,0,0,0,44274,0,0,0,25178,0,0,1,38934,0,0,0,52538,0,0,0,5378,0,0,0,974616,0,0,,,,,0,83116,0,0,0,55314,0,0 -17-43051181-G-A,17,43051181,rs2153092903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-64C>T,,c.5278-64C>T,intron_variant,,,,1,1303954,7.66898218802197e-7,0,0,,,6.35,,0.00,0.00,-0.221,,,0,30096,0,0,0,44198,0,0,0,25146,0,0,0,38894,0,0,0,52426,0,0,0,5366,0,0,1,969762,0,0,,,,,0,82966,0,0,0,55100,0,0 -17-43051181-G-T,17,43051181,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-64C>A,,c.5278-64C>A,intron_variant,,,,2,1303950,0.0000015338011426818513,0,0,,,5.83,,0.00,0.00,-0.221,,,0,30096,0,0,0,44198,0,0,0,25146,0,0,0,38894,0,0,0,52426,0,0,0,5366,0,0,0,969758,0,0,,,,,1,82966,0,0,1,55100,0,0 -17-43051183-A-C,17,43051183,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-66T>G,,c.5278-66T>G,intron_variant,,,,1,625142,0.0000015996365625729834,0,0,,,9.11,,0.00,0.00,-1.14,,,0,17568,0,0,0,43304,0,0,0,20900,0,0,0,36040,0,0,0,52120,0,0,0,3960,0,0,1,348820,0,0,,,,,0,69468,0,0,0,32962,0,0 -17-43051184-T-C,17,43051184,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-67A>G,,c.5278-67A>G,intron_variant,,,,2,1257356,0.0000015906394052281136,0,0,sas,0.00000406,11.8,,0.00,0.00,-1.92,,,0,29136,0,0,0,43770,0,0,0,24828,0,0,0,38648,0,0,0,51936,0,0,0,5162,0,0,0,928538,0,0,,,,,2,81858,0,0,0,53480,0,0 -17-43051185-A-G,17,43051185,rs2153093039,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-68T>C,,c.5278-68T>C,intron_variant,,,,1,1264822,7.906250840039151e-7,0,0,,,8.53,,0.00,0.00,-0.510,,,0,29248,0,0,0,43824,0,0,0,24884,0,0,0,38682,0,0,0,51952,0,0,0,5178,0,0,0,935306,0,0,,,,,0,82012,0,0,1,53736,0,0 -17-43051186-T-C,17,43051186,rs924705615,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-69A>G,,c.5278-69A>G,intron_variant,,,,103,1421410,0.00007246325831392772,0,0,nfe,0.0000034200000000000003,10.5,,0.00,0.00,-0.121,,,0,70754,0,0,0,59096,0,0,0,28378,0,0,0,43896,0,0,93,62538,0,0,0,5504,0,0,8,1007390,0,0,0,912,0,0,0,86958,0,0,2,55984,0,0 -17-43051188-G-A,17,43051188,rs2051221672,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-71C>T,,c.5278-71C>T,intron_variant,,,,3,1255730,0.000002389048601212044,0,0,sas,0.00000405,10.7,,0.00,0.00,-1.06,,,0,29098,0,0,0,43734,0,0,0,24826,0,0,0,38640,0,0,0,51856,0,0,0,5166,0,0,1,927136,0,0,,,,,2,81872,0,0,0,53402,0,0 -17-43051190-C-T,17,43051190,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-73G>A,,c.5278-73G>A,intron_variant,,,,1,1253920,7.974990430011484e-7,0,0,,,3.23,,0.00,0.00,-1.09,,,0,28958,0,0,0,43432,0,0,0,24750,0,0,0,38630,0,0,0,51682,0,0,0,5116,0,0,1,926354,0,0,,,,,0,81610,0,0,0,53388,0,0 -17-43051191-T-C,17,43051191,rs2051221812,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-74A>G,,c.5278-74A>G,intron_variant,,,,10,621296,0.000016095387705699055,0,0,sas,0.00007794999999999998,8.58,,0.00,-0.0100,1.98,,,0,17422,0,0,0,42728,0,0,0,20780,0,0,0,36000,0,0,0,51398,0,0,0,3816,0,0,0,347256,0,0,,,,,10,69090,0,0,0,32806,0,0 -17-43056977-C-T,17,43056977,rs2153342167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+75G>A,,c.5277+75G>A,intron_variant,,,,1,1193012,8.382145359811972e-7,0,0,,,6.10,,0.0100,0.0100,0.940,,,0,28102,0,0,0,44272,0,0,0,24514,0,0,1,38436,0,0,0,53120,0,0,0,5250,0,0,0,866988,0,0,,,,,0,80820,0,0,0,51510,0,0 -17-43056982-C-T,17,43056982,rs2153343175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+70G>A,,c.5277+70G>A,intron_variant,,,,8,1262506,0.000006336603548814817,0,0,nfe,0.0000037,1.72,,0.00,0.00,0.187,,,0,29420,0,0,0,44400,0,0,0,24978,0,0,0,38774,0,0,0,53164,0,0,0,5398,0,0,8,930386,0,0,,,,,0,82192,0,0,0,53794,0,0 -17-43056986-G-T,17,43056986,rs2153344010,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+66C>A,,c.5277+66C>A,intron_variant,,,,1,674040,0.0000014835914782505488,0,0,,,0.199,,0.00,-0.0100,0.147,,,0,12472,0,0,0,788,0,0,0,4218,0,0,0,2914,0,0,0,220,0,0,0,1346,0,0,1,616912,0,0,,,,,0,13154,0,0,0,22016,0,0 -17-43056991-G-T,17,43056991,rs2153344854,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+61C>A,,c.5277+61C>A,intron_variant,,,,1,1311094,7.627218185728865e-7,0,0,,,1.25,,0.00,0.00,0.0980,,,0,30464,0,0,0,44458,0,0,0,25236,0,0,0,39040,0,0,0,53162,0,0,0,5512,0,0,0,974600,0,0,,,,,1,83250,0,0,0,55372,0,0 -17-43056991-G-C,17,43056991,rs2153344854,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+61C>G,,c.5277+61C>G,intron_variant,,,,5,1311100,0.000003813591640607124,0,0,nfe,8.2e-7,1.38,,0.00,0.00,0.0980,,,0,30464,0,0,0,44458,0,0,0,25236,0,0,0,39040,0,0,0,53164,0,0,2,5512,0,0,3,974604,0,0,,,,,0,83250,0,0,0,55372,0,0 -17-43056992-G-C,17,43056992,rs2153345030,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+60C>G,,c.5277+60C>G,intron_variant,,,,4,1317782,0.000003035403427881091,1,0,sas,0.000016210000000000002,0.143,,0.0100,0.00,-0.904,,,0,30472,0,0,0,44516,0,0,0,25274,0,0,0,39056,0,0,0,53266,0,0,0,5510,0,0,0,980814,0,0,,,,,4,83318,1,0,0,55556,0,0 -17-43056992-G-GGGAGTGGAATAC,17,43056992,rs572766355,G,GGGAGTGGAATAC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+48_5277+59dup,,c.5277+48_5277+59dup,intron_variant,Benign,433729,,3419,1469986,0.0023258724913026384,2,0,nfe,0.00292526,2.90,,0.00,-0.0100,-0.904,,,39,72020,0,0,43,59798,0,0,1,28746,0,0,0,44236,0,0,92,63876,0,0,0,5804,0,0,3160,1048786,2,0,0,912,0,0,8,88138,0,0,76,57670,0,0 -17-43056993-GGAGTGGAATACA-G,17,43056993,,GGAGTGGAATACA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+47_5277+58del,,c.5277+47_5277+58del,intron_variant,,,,1,1323804,7.553988354771553e-7,0,0,,,9.90,,0.00,0.0100,0.424,,,0,30612,0,0,0,44516,0,0,0,25286,0,0,0,39070,0,0,0,53284,0,0,0,5518,0,0,1,986342,0,0,,,,,0,83426,0,0,0,55750,0,0 -17-43056994-G-A,17,43056994,rs2153345672,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+58C>T,,c.5277+58C>T,intron_variant,,,,3,1326672,0.0000022612974420203335,0,0,nfe,8.100000000000001e-7,1.39,,0.00,0.00,0.106,,,0,30648,0,0,0,44526,0,0,0,25316,0,0,0,39088,0,0,0,53280,0,0,0,5526,0,0,3,988968,0,0,,,,,0,83474,0,0,0,55846,0,0 -17-43056998-G-T,17,43056998,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+54C>A,,c.5277+54C>A,intron_variant,,,,1,733280,0.0000013637355444032293,0,0,,,5.57,,0.00,0.00,0.153,,,0,13658,0,0,0,862,0,0,0,4532,0,0,0,3192,0,0,0,230,0,0,0,1458,0,0,1,670912,0,0,,,,,0,14444,0,0,0,23992,0,0 -17-43056999-G-T,17,43056999,rs2051489655,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+53C>A,,c.5277+53C>A,intron_variant,,,,1,1366970,7.315449497794392e-7,0,0,,,8.34,,0.00,0.00,-0.00200,,,0,31478,0,0,0,44592,0,0,0,25536,0,0,0,39278,0,0,0,53304,0,0,0,5616,0,0,0,1025632,0,0,,,,,1,84318,0,0,0,57216,0,0 -17-43056999-G-A,17,43056999,rs2051489655,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+53C>T,,c.5277+53C>T,intron_variant,,,,1,1366974,7.315428091536489e-7,0,0,,,8.74,,0.00,0.00,-0.00200,,,0,31478,0,0,0,44592,0,0,0,25536,0,0,0,39278,0,0,0,53304,0,0,0,5616,0,0,1,1025634,0,0,,,,,0,84318,0,0,0,57218,0,0 -17-43057004-C-T,17,43057004,rs759776172,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+48G>A,,c.5277+48G>A,intron_variant,,,,2,780200,0.000002563445270443476,0,0,,,8.34,,0.00,0.00,0.123,,,0,59098,0,0,0,58974,0,0,0,24424,0,0,0,41242,0,0,0,63662,0,0,0,4458,0,0,2,417678,0,0,0,912,0,0,0,74614,0,0,0,35138,0,0 -17-43057006-G-A,17,43057006,rs913567189,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+46C>T,,c.5277+46C>T,intron_variant,,,,1,1407624,7.104169863543105e-7,0,0,,,3.58,,0.00,0.00,-0.245,,,0,32240,0,0,0,44632,0,0,0,25818,0,0,0,39456,0,0,0,53326,0,0,0,5670,0,0,1,1062748,0,0,,,,,0,85178,0,0,0,58556,0,0 -17-43057008-G-T,17,43057008,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>A,,c.5277+44C>A,intron_variant,,,,1,1414290,7.070685644386936e-7,0,0,,,5.73,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,1,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 -17-43057008-G-C,17,43057008,rs2051490741,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>G,,c.5277+44C>G,intron_variant,,,,7,1414290,0.000004949479951070856,0,0,nfe,0.0000027200000000000002,6.00,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,7,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 -17-43057008-G-A,17,43057008,rs2051490741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>T,,c.5277+44C>T,intron_variant,,,,1,1414290,7.070685644386936e-7,0,0,,,6.21,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,1,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 -17-43057009-T-C,17,43057009,rs770045451,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+43A>G,,c.5277+43A>G,intron_variant,,,,2,1415036,0.0000014133916027578098,0,0,,,1.21,,0.00,0.00,-1.81,,,0,32426,0,0,0,44646,0,0,0,25868,0,0,0,39458,0,0,0,53334,0,0,0,5684,0,0,1,1069506,0,0,,,,,0,85316,0,0,1,58798,0,0 -17-43057009-T-A,17,43057009,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+43A>T,,c.5277+43A>T,intron_variant,,,,2,1415036,0.0000014133916027578098,0,0,nfe,3.1e-7,0.869,,0.00,0.00,-1.81,,,0,32426,0,0,0,44646,0,0,0,25868,0,0,0,39458,0,0,0,53334,0,0,0,5684,0,0,2,1069506,0,0,,,,,0,85316,0,0,0,58798,0,0 -17-43057009-T-G,17,43057009,rs770045451,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+43A>C,,c.5277+43A>C,intron_variant,,,,6,1566228,0.000003830859874807499,0,0,,,0.942,,0.00,0.00,-1.81,,,0,73452,0,0,0,59806,0,0,6,29328,0,0,0,44614,0,0,0,63826,0,0,0,5996,0,0,0,1137312,0,0,0,912,0,0,0,90104,0,0,0,60878,0,0 -17-43057010-G-C,17,43057010,rs537848419,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+42C>G,,c.5277+42C>G,intron_variant,,,,1,1417942,7.052474642827422e-7,0,0,,,1.50,,0.00,0.00,0.252,,,0,32496,0,0,0,44660,0,0,0,25904,0,0,0,39474,0,0,0,53348,0,0,0,5694,0,0,1,1072140,0,0,,,,,0,85358,0,0,0,58868,0,0 -17-43057010-G-T,17,43057010,rs537848419,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+42C>A,,c.5277+42C>A,intron_variant,Benign,1325652,,50,1570206,0.00003184295563766792,0,0,sas,0.00040244000000000006,1.18,,0.00,0.00,0.252,,,0,74048,0,0,0,59948,0,0,0,29374,0,0,0,44650,0,0,0,63954,0,0,0,5988,0,0,0,1140168,0,0,0,912,0,0,47,90186,0,0,3,60978,0,0 -17-43057011-G-T,17,43057011,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+41C>A,,c.5277+41C>A,intron_variant,,,,1,796736,0.0000012551208932444373,0,0,,,0.872,,0.00,0.00,-1.28,,,0,14978,0,0,0,952,0,0,0,4952,0,0,0,3448,0,0,0,260,0,0,0,1564,0,0,1,728824,0,0,,,,,0,15718,0,0,0,26040,0,0 -17-43057013-G-A,17,43057013,rs762779289,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+39C>T,,c.5277+39C>T,intron_variant,,,,3,1426788,0.000002102624916946316,0,0,nfe,7.399999999999999e-7,0.841,,0.00,0.00,-0.418,,,0,32752,0,0,0,44666,0,0,0,25964,0,0,0,39532,0,0,0,53354,0,0,0,5724,0,0,3,1080022,0,0,,,,,0,85598,0,0,0,59176,0,0 -17-43057015-G-A,17,43057015,rs1567764110,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+37C>T,,c.5277+37C>T,intron_variant,,,,3,1431032,0.0000020963891792776123,0,0,,,5.84,,0.00,0.00,0.00900,,,0,32844,0,0,0,44672,0,0,0,25972,0,0,0,39562,0,0,0,53356,0,0,0,5728,0,0,1,1083888,0,0,,,,,0,85708,0,0,2,59302,0,0 -17-43057020-G-C,17,43057020,rs371203180,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+32C>G,,c.5277+32C>G,intron_variant,,,,19,1605488,0.00001183440798062645,0,0,afr,0.00016585,6.03,,0.00,0.00,2.18,,,19,74840,0,0,0,60000,0,0,0,29544,0,0,0,44814,0,0,0,63992,0,0,0,6052,0,0,0,1172180,0,0,0,912,0,0,0,90900,0,0,0,62254,0,0 -17-43057020-G-T,17,43057020,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+32C>A,,c.5277+32C>A,intron_variant,,,,1,1453192,6.881403145627006e-7,0,0,,,5.67,,0.00,0.00,2.18,,,0,33274,0,0,0,44700,0,0,0,26074,0,0,0,39638,0,0,0,53376,0,0,0,5758,0,0,1,1104152,0,0,,,,,0,86078,0,0,0,60142,0,0 -17-43057026-TG-T,17,43057026,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+25del,,c.5277+25del,intron_variant,,,,1,1457954,6.858926962030352e-7,0,0,,,4.66,,0.00,0.00,-0.112,,,0,33414,0,0,0,44706,0,0,0,26104,0,0,0,39670,0,0,0,53376,0,0,0,5764,0,0,1,1108460,0,0,,,,,0,86178,0,0,0,60282,0,0 -17-43057026-T-C,17,43057026,rs761772015,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+26A>G,,c.5277+26A>G,intron_variant,,,,1,1457954,6.858926962030352e-7,0,0,,,9.09,,0.00,0.00,-0.112,,,0,33414,0,0,0,44706,0,0,0,26104,0,0,0,39670,0,0,0,53376,0,0,0,5764,0,0,0,1108460,0,0,,,,,1,86178,0,0,0,60282,0,0 -17-43057027-G-A,17,43057027,rs987728966,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+25C>T,,c.5277+25C>T,intron_variant,,,,1,152156,0.0000065722022135177055,0,0,,,6.80,,0.00,0.00,0.866,,,1,41436,0,0,0,15276,0,0,0,3468,0,0,0,5186,0,0,0,10622,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4822,0,0,0,2094,0,0 -17-43057028-T-C,17,43057028,rs375508764,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+24A>G,,c.5277+24A>G,intron_variant,,,,12,1612092,0.000007443743905434678,0,0,nfe,0.00000543,2.92,,0.00,0.00,0.214,,,0,74892,0,0,0,59986,0,0,0,29592,0,0,0,44870,0,0,0,64000,0,0,0,6082,0,0,12,1178290,0,0,0,912,0,0,0,91046,0,0,0,62422,0,0 -17-43057031-A-G,17,43057031,rs397509249,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+21T>C,,c.5277+21T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,0.673,,0.00,0.00,-0.643,,,1,41446,0,0,0,15270,0,0,0,3470,0,0,0,5184,0,0,0,10628,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43057032-C-T,17,43057032,rs766950602,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+20G>A,,c.5277+20G>A,intron_variant,Benign/Likely benign,220103,,3,152140,0.000019718680163007757,0,0,afr,0.0000192,0.983,,0.00,0.00,0.450,,,3,41422,0,0,0,15264,0,0,0,3468,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43057035-G-C,17,43057035,rs749918224,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+17C>G,,c.5277+17C>G,intron_variant,Likely benign,415598,,1,628518,0.0000015910443296771136,0,0,,,0.0490,,0.00,0.00,-0.667,,,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53110,0,0,0,4146,0,0,1,349938,0,0,,,,,0,69792,0,0,0,33080,0,0 -17-43057035-G-A,17,43057035,rs749918224,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+17C>T,,c.5277+17C>T,intron_variant,Likely benign,462667,,1,628518,0.0000015910443296771136,0,0,,,0.0520,,0.00,0.00,-0.667,,,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53110,0,0,0,4146,0,0,1,349938,0,0,,,,,0,69792,0,0,0,33080,0,0 -17-43057037-G-A,17,43057037,rs535279193,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+15C>T,,c.5277+15C>T,intron_variant,Likely benign,415608,,1,152164,0.000006571856680949502,0,0,,,0.657,,0.00,0.00,0.132,,,0,41440,0,0,0,15268,0,0,0,3470,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43057038-G-A,17,43057038,rs779721268,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+14C>T,,c.5277+14C>T,intron_variant,,,,1,628558,0.000001590943079238511,0,0,,,1.98,,0.00,0.00,-0.673,,,0,17690,0,0,0,43732,0,0,0,20974,0,0,0,36066,0,0,0,53118,0,0,0,4148,0,0,0,349958,0,0,,,,,1,69792,0,0,0,33080,0,0 -17-43057039-G-A,17,43057039,rs2153351132,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+13C>T,,c.5277+13C>T,intron_variant,,,,1,832824,0.0000012007338885526834,0,0,,,2.07,,0.00,0.00,-0.0850,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761630,0,0,,,,,0,16456,0,0,0,27294,0,0 -17-43057041-G-A,17,43057041,rs1555576819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+11C>T,,c.5277+11C>T,intron_variant,Likely benign,491103,,1,628558,0.000001590943079238511,0,0,,,1.45,,0.00,0.00,-0.493,,,0,17692,0,0,1,43730,0,0,0,20978,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,0,349956,0,0,,,,,0,69792,0,0,0,33080,0,0 -17-43057043-G-A,17,43057043,rs1356169081,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+9C>T,,c.5277+9C>T,intron_variant,not provided,868258,,1,1461556,6.842023158879988e-7,0,0,,,5.23,,0.00,0.00,0.165,,,0,33474,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53398,0,0,0,5766,0,0,1,1111744,0,0,,,,,0,86254,0,0,0,60378,0,0 -17-43057043-G-C,17,43057043,rs1356169081,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+9C>G,,c.5277+9C>G,intron_variant,Likely benign,531466,,3,1613704,0.000001859077005448335,0,0,nfe,6.800000000000001e-7,5.15,,0.00,0.00,0.165,,,0,74904,0,0,0,59980,0,0,0,29600,0,0,0,44886,0,0,0,64018,0,0,0,6082,0,0,3,1179770,0,0,0,912,0,0,0,91080,0,0,0,62472,0,0 -17-43057046-C-G,17,43057046,rs1057523590,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+6G>C,,c.5277+6G>C,intron_variant,Uncertain significance,867313,,1,628606,0.0000015908215957213262,0,0,,,0.171,,0.00,0.00,0.833,,,0,17692,0,0,0,43730,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,1,349984,0,0,,,,,0,69796,0,0,0,33082,0,0 -17-43057046-C-T,17,43057046,rs1057523590,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+6G>A,,c.5277+6G>A,intron_variant,Uncertain significance,867312,,1,628606,0.0000015908215957213262,0,0,,,0.226,,0.00,0.00,0.833,,,0,17692,0,0,1,43730,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,0,349984,0,0,,,,,0,69796,0,0,0,33082,0,0 -17-43057047-T-C,17,43057047,rs397509252,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+5A>G,,c.5277+5A>G,intron_variant,Conflicting interpretations of pathogenicity,867311,,1,628612,0.0000015908064115861614,0,0,,,3.28,,0.00,0.00,0.958,,,0,17692,0,0,0,43734,0,0,0,20980,0,0,1,36064,0,0,0,53128,0,0,0,4142,0,0,0,349990,0,0,,,,,0,69796,0,0,0,33086,0,0 -17-43057049-T-C,17,43057049,rs397509250,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+3A>G,,c.5277+3A>G,intron_variant,Conflicting interpretations of pathogenicity,628250,,7,833078,0.000008402574548841765,0,0,nfe,0.00000382,18.1,,0.0100,-0.0400,3.03,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761876,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43057051-C-T,17,43057051,rs80358150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+1G>A,,c.5277+1G>A,splice_donor_variant,Pathogenic,37654,,2,1461684,0.0000013682848002714677,0,0,nfe,2.999999999999999e-7,33.0,,0.990,-0.870,8.90,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39696,0,0,0,53400,0,0,0,5764,0,0,2,1111860,0,0,,,,,0,86254,0,0,0,60386,0,0 -17-43057052-C-A,17,43057052,rs80356854,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Asn,p.Lys1759Asn,c.5277G>T,missense_variant,Uncertain significance,232061,,1,1461708,6.841311671004058e-7,0,0,,,34.0,0.566,0.280,-0.290,5.97,0.00,0.273,0,33478,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86250,0,0,0,60386,0,0 -17-43057052-C-T,17,43057052,rs80356854,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Lys,p.Lys1759Lys,c.5277G>A,splice_region_variant,Conflicting interpretations of pathogenicity,55499,,6,1461708,0.0000041047870026024345,0,0,sas,0.00002995,22.3,,0.140,-0.180,5.97,,,0,33478,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,0,1111876,0,0,,,,,6,86250,0,0,0,60386,0,0 -17-43057053-T-C,17,43057053,rs431825415,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Arg,p.Lys1759Arg,c.5276A>G,missense_variant,Conflicting interpretations of pathogenicity,96947,,3,1461702,0.0000020524019259739673,0,0,nfe,2.999999999999999e-7,31.0,0.691,0.0100,-0.0500,1.40,0.0100,0.144,0,33476,0,0,0,44718,0,0,0,26132,0,0,0,39696,0,0,0,53406,0,0,0,5768,0,0,2,1111868,0,0,,,,,0,86256,0,0,1,60382,0,0 -17-43057054-T-A,17,43057054,rs2051496536,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Ter,p.Lys1759Ter,c.5275A>T,stop_gained,not provided,868248,,1,833064,0.0000012003879653904143,0,0,,,46.0,,0.0100,-0.0500,2.32,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761858,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43057055-T-C,17,43057055,rs758739620,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1758Arg,p.Arg1758Arg,c.5274A>G,synonymous_variant,Likely benign,232795,,6,628656,0.000009544170420707032,0,0,nfe,0.00000716,7.12,,0.00,-0.0100,0.885,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,6,350018,0,0,,,,,0,69796,0,0,0,33090,0,0 -17-43057057-T-C,17,43057057,rs1597810455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1758Gly,p.Arg1758Gly,c.5272A>G,missense_variant,Uncertain significance,656220,,4,1461734,0.0000027364759935802273,0,0,nfe,2.999999999999999e-7,16.4,0.557,0.00,0.00,2.16,0.290,0.0350,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,2,1111890,0,0,,,,,0,86254,0,0,2,60388,0,0 -17-43057058-G-A,17,43057058,rs1597810460,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1757Asp,p.Asp1757Asp,c.5271C>T,synonymous_variant,not provided,867300,,1,628652,0.0000015907051914254627,0,0,,,6.28,,0.00,-0.0100,2.04,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53130,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69796,0,0,0,33086,0,0 -17-43057060-C-G,17,43057060,rs863224764,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1757His,p.Asp1757His,c.5269G>C,missense_variant,Conflicting interpretations of pathogenicity,216674,,1,833090,0.0000012003505023466853,0,0,,,23.3,0.564,0.00,0.00,2.98,0.0200,0.462,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43057062-T-TG,17,43057062,rs80357906,T,TG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1756ProfsTer74,p.Gln1756ProfsTer74,c.5266dup,frameshift_variant,Pathogenic,17677,,109,1613912,0.00006753775918389602,0,0,nfe,0.00004346,33.0,,0.00,0.00,-1.67,,,1,74930,0,0,0,59992,0,0,35,29592,0,0,0,44888,0,0,0,64028,0,0,0,6084,0,0,64,1179926,0,0,0,912,0,0,0,91080,0,0,9,62480,0,0 -17-43057063-G-C,17,43057063,rs397509247,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1756Glu,p.Gln1756Glu,c.5266C>G,missense_variant,not provided,868240,,1,833080,0.0000012003649109329235,0,0,,,21.5,0.517,0.00,0.00,2.41,0.0400,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761874,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43057069-C-G,17,43057069,rs80357432,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1754Gln,p.Glu1754Gln,c.5260G>C,missense_variant,Conflicting interpretations of pathogenicity,462666,,24,1461786,0.000016418271894791713,0,0,sas,0.00019168999999999998,24.2,0.536,0.00,0.00,5.97,0.130,0.0440,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53414,0,0,0,5764,0,0,0,1111934,0,0,,,,,24,86248,0,0,0,60392,0,0 -17-43057069-C-A,17,43057069,rs80357432,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1754Ter,p.Glu1754Ter,c.5260G>T,stop_gained,Pathogenic,55489,,1,1461786,6.84094662282988e-7,0,0,,,44.0,,0.00,-0.0100,5.97,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53414,0,0,0,5764,0,0,0,1111934,0,0,,,,,0,86248,0,0,1,60392,0,0 -17-43057070-T-C,17,43057070,rs771577266,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1753Arg,p.Arg1753Arg,c.5259A>G,synonymous_variant,Likely benign,187571,,4,1461778,0.000002736393624750133,0,0,nfe,8.4e-7,12.3,,0.00,-0.0100,1.98,,,0,33480,0,0,0,44724,0,0,0,26126,0,0,0,39696,0,0,0,53416,0,0,0,5764,0,0,4,1111926,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43057074-G-C,17,43057074,rs80357028,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1752Gly,p.Ala1752Gly,c.5255C>G,missense_variant,Uncertain significance,482908,,5,628692,0.000007953019920724297,0,0,eas,0.00005408999999999997,26.6,0.637,0.00,0.00,8.79,0.00,0.0520,0,17694,0,0,0,43740,0,0,0,20980,0,0,5,36070,0,0,0,53140,0,0,0,4146,0,0,0,350028,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43057077-C-T,17,43057077,rs80357442,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1751Gln,p.Arg1751Gln,c.5252G>A,missense_variant,Benign,55481,,78,1613922,0.00004832947317156591,0,0,nfe,0.00004946,27.2,0.683,0.00,0.00,5.93,0.00,0.0500,2,74906,0,0,3,59980,0,0,0,29604,0,0,0,44894,0,0,0,64016,0,0,0,6078,0,0,72,1179972,0,0,0,912,0,0,0,91078,0,0,1,62482,0,0 -17-43057078-G-A,17,43057078,rs80357123,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1751Ter,p.Arg1751Ter,c.5251C>T,stop_gained,Pathogenic,55480,,6,780812,0.00000768430813051029,0,0,nfe,0.0000019100000000000003,41.0,,0.0100,0.0200,2.30,,,1,59118,0,0,0,58996,0,0,0,24446,0,0,1,41258,0,0,1,63746,0,0,0,4458,0,0,3,418064,0,0,0,912,0,0,0,74630,0,0,0,35184,0,0 -17-43057078-G-T,17,43057078,rs80357123,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg1751Arg,p.Arg1751Arg,c.5251C>A,synonymous_variant,Likely benign,433727,,1,152116,0.000006573930421520419,0,0,,,9.57,,0.00,-0.0100,2.30,,,1,41428,0,0,0,15256,0,0,0,3470,0,0,0,5190,0,0,0,10606,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43057080-T-C,17,43057080,rs2051506626,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1750Arg,p.Lys1750Arg,c.5249A>G,missense_variant,Likely benign,867277,,1,833108,0.0000012003245677631232,0,0,,,17.5,0.467,0.00,0.00,1.97,0.360,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43057087-C-A,17,43057087,rs397507245,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1748Cys,p.Gly1748Cys,c.5242G>T,missense_variant,Conflicting interpretations of pathogenicity,37650,,1,628722,0.0000015905280871354907,0,0,,,27.7,0.738,0.00,0.00,7.13,0.00,0.711,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4146,0,0,0,350062,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43057090-G-A,17,43057090,rs80357367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1747Ter,p.Gln1747Ter,c.5239C>T,stop_gained,Pathogenic,55473,,1,628722,0.0000015905280871354907,0,0,,,43.0,,0.00,-0.0200,5.86,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4142,0,0,1,350064,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43057093-G-T,17,43057093,rs80357146,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1746Asn,p.His1746Asn,c.5236C>A,missense_variant,Uncertain significance,55472,,1,833106,0.0000012003274493281767,0,0,,,26.6,0.584,0.00,0.00,8.79,0.00,0.186,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43057098-CTT-C,17,43057098,rs80357852,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1744LysfsTer85,p.Arg1744LysfsTer85,c.5229_5230del,frameshift_variant,Pathogenic,55469,,1,833110,0.0000012003216862119048,0,0,,,34.0,,0.00,0.00,7.13,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43057101-C-G,17,43057101,rs1346819781,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1743Ala,p.Gly1743Ala,c.5228G>C,missense_variant,Uncertain significance,496391,,4,985162,0.000004060245929095925,0,0,amr,0.00004986,26.6,0.655,0.00,0.00,8.90,0.00,0.0850,1,57190,0,0,3,16226,0,0,0,8620,0,0,0,8812,0,0,0,10878,0,0,0,1936,0,0,0,829922,0,0,0,912,0,0,0,21280,0,0,0,29386,0,0 -17-43057104-T-C,17,43057104,rs864622104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1742Ser,p.Asn1742Ser,c.5225A>G,missense_variant,Conflicting interpretations of pathogenicity,219464,,1,833110,0.0000012003216862119048,0,0,,,24.9,0.585,0.00,0.00,3.10,0.0100,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43057105-T-C,17,43057105,rs1597810828,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1742Asp,p.Asn1742Asp,c.5224A>G,missense_variant,Uncertain significance,825568,,2,628706,0.000003181137129278232,0,0,,,27.2,0.592,0.00,0.00,6.36,0.0100,0.0930,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,1,350046,0,0,,,,,1,69798,0,0,0,33096,0,0 -17-43057108-C-T,17,43057108,rs876659122,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1741Ile,p.Val1741Ile,c.5221G>A,missense_variant,Conflicting interpretations of pathogenicity,231376,,1,628694,0.0000015905989241188878,0,0,,,2.46,0.511,0.00,0.00,-0.0770,1.00,0.0130,1,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4144,0,0,0,350038,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43057113-T-C,17,43057113,rs80357227,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1739Gly,p.Asp1739Gly,c.5216A>G,missense_variant,Likely pathogenic,55465,,1,833100,0.0000012003360941063497,0,0,,,31.0,0.778,0.00,0.00,6.36,0.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43057114-C-T,17,43057114,rs80357283,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1739Asn,p.Asp1739Asn,c.5215G>A,missense_variant,Conflicting interpretations of pathogenicity,479223,,2,628686,0.000003181238328831881,0,0,nfe,9.5e-7,28.8,0.566,0.00,0.00,8.90,0.00,0.00300,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4144,0,0,2,350032,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43057118-T-C,17,43057118,rs1555576963,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1737Arg,p.Arg1737Arg,c.5211A>G,synonymous_variant,Conflicting interpretations of pathogenicity,531477,,2,1461758,0.0000013682155322563652,0,0,amr,0.000007410000000000001,14.7,,0.00,-0.0100,1.83,,,0,33480,0,0,2,44722,0,0,0,26130,0,0,0,39694,0,0,0,53412,0,0,0,5766,0,0,0,1111904,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43057122-A-G,17,43057122,rs45553935,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1736Ala,p.Val1736Ala,c.5207T>C,missense_variant,Pathogenic,37648,,13,1461754,0.000008893425295911625,0,0,nfe,0.00000575,28.3,0.827,0.00,0.00,6.33,0.00,0.320,0,33478,0,0,0,44718,0,0,0,26130,0,0,0,39694,0,0,0,53414,0,0,0,5762,0,0,12,1111908,0,0,,,,,0,86256,0,0,1,60394,0,0 -17-43057123-C-A,17,43057123,rs377595653,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1736Phe,p.Val1736Phe,c.5206G>T,missense_variant,Likely pathogenic,867843,,1,628656,0.0000015906950701178388,0,0,,,27.7,0.794,0.00,0.0100,8.90,0.00,0.778,0,17694,0,0,0,43736,0,0,1,20978,0,0,0,36066,0,0,0,53134,0,0,0,4142,0,0,0,350012,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43057125-T-A,17,43057125,rs2051527499,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1735Val,p.Glu1735Val,c.5204A>T,missense_variant,not provided,867515,,1,628632,0.0000015907557998956464,0,0,,,33.0,0.871,0.00,0.0100,6.36,0.00,0.00,0,17692,0,0,0,43736,0,0,0,20974,0,0,0,36066,0,0,0,53138,0,0,0,4142,0,0,0,349992,0,0,,,,,1,69796,0,0,0,33096,0,0 -17-43057131-T-C,17,43057131,rs80357270,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1733Gly,p.Asp1733Gly,c.5198A>G,missense_variant,Benign,55453,,91,1613744,0.000056390604705579075,0,0,nfe,0.00005958,22.9,0.759,0.00,0.00,2.95,0.0400,0.279,4,74872,0,0,0,59960,0,0,0,29594,0,0,0,44878,0,0,0,64020,0,0,0,6082,0,0,85,1179866,0,0,0,912,0,0,0,91086,0,0,2,62474,0,0 -17-43057131-T-A,17,43057131,rs80357270,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1733Val,p.Asp1733Val,c.5198A>T,missense_variant,Uncertain significance,491101,,51,1613744,0.00003160352571411574,0,0,,,24.6,0.721,0.00,0.00,2.95,0.00,0.165,0,74872,0,0,0,59960,0,0,0,29594,0,0,0,44878,0,0,49,64020,0,0,0,6082,0,0,2,1179866,0,0,0,912,0,0,0,91086,0,0,0,62474,0,0 -17-43057134-T-C,17,43057134,rs1597811076,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1732Arg,p.His1732Arg,c.5195A>G,missense_variant,Conflicting interpretations of pathogenicity,653572,,2,1461650,0.0000013683166284678274,0,0,nfe,2.999999999999999e-7,18.1,0.518,0.00,-0.0100,-0.417,0.180,0.0300,0,33476,0,0,0,44720,0,0,0,26124,0,0,0,39694,0,0,0,53404,0,0,0,5764,0,0,2,1111830,0,0,,,,,0,86254,0,0,0,60384,0,0 -17-43057135-G-A,17,43057135,rs2051531560,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1732Tyr,p.His1732Tyr,c.5194C>T,missense_variant,not provided,867502,,1,832976,0.0000012005147807379804,0,0,,,21.9,0.613,0.00,0.00,1.53,0.310,0.0460,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,1,761788,0,0,,,,,0,16452,0,0,0,27296,0,0 -17-43057137-TG-T,17,43057137,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-3del,,c.5194-3del,splice_region_variant,Uncertain significance,2010778,,1,832956,0.0000012005436061448623,0,0,,,13.3,,0.0100,-0.0200,6.36,,,0,15784,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761764,0,0,,,,,0,16454,0,0,0,27296,0,0 -17-43057138-G-A,17,43057138,rs2051532279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-3C>T,,c.5194-3C>T,splice_region_variant,not provided,865148,,1,628554,0.0000015909532037024663,0,0,,,13.6,,0.00,0.00,3.45,,,0,17690,0,0,0,43734,0,0,0,20968,0,0,0,36064,0,0,0,53126,0,0,0,4138,0,0,1,349956,0,0,,,,,0,69792,0,0,0,33086,0,0 -17-43057147-C-T,17,43057147,rs80358079,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-12G>A,,c.5194-12G>A,intron_variant,Pathogenic,55451,,2,831444,0.0000024054536445028166,0,0,nfe,4.4e-7,29.8,,0.960,0.830,4.71,,,0,15752,0,0,0,984,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,760370,0,0,,,,,0,16426,0,0,0,27252,0,0 -17-43057148-A-G,17,43057148,rs199527524,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-13T>C,,c.5194-13T>C,intron_variant,Likely benign,1581551,,2,628472,0.0000031823215672297255,0,0,nfe,9.5e-7,17.4,,0.00,-0.0100,2.44,,,0,17686,0,0,0,43730,0,0,0,20958,0,0,0,36064,0,0,0,53116,0,0,0,4134,0,0,2,349916,0,0,,,,,0,69794,0,0,0,33074,0,0 -17-43057149-A-T,17,43057149,rs1567764689,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-14T>A,,c.5194-14T>A,intron_variant,Likely benign,570096,,1,1459684,6.850797843916902e-7,0,0,,,16.9,,0.00,-0.0100,2.18,,,1,33438,0,0,0,44712,0,0,0,26096,0,0,0,39684,0,0,0,53394,0,0,0,5754,0,0,0,1110084,0,0,,,,,0,86210,0,0,0,60312,0,0 -17-43057149-AAC-A,17,43057149,rs1360158770,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-16_5194-15del,,c.5194-16_5194-15del,intron_variant,Likely benign,1058977,,1,1459684,6.850797843916902e-7,0,0,,,7.41,,0.00,-0.0100,2.18,,,0,33438,0,0,1,44712,0,0,0,26096,0,0,0,39684,0,0,0,53394,0,0,0,5754,0,0,0,1110084,0,0,,,,,0,86210,0,0,0,60312,0,0 -17-43057151-C-T,17,43057151,rs368058346,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-16G>A,,c.5194-16G>A,intron_variant,Benign/Likely benign,633090,,4,1610786,0.000002483259725376307,0,0,afr,0.000017480000000000002,5.47,,0.00,-0.0100,-1.02,,,4,74824,0,0,0,59970,0,0,0,29548,0,0,0,44866,0,0,0,63998,0,0,0,6062,0,0,0,1177214,0,0,0,912,0,0,0,91026,0,0,0,62366,0,0 -17-43057151-C-A,17,43057151,rs368058346,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-16G>T,,c.5194-16G>T,intron_variant,,,,1,1458654,6.855635400855857e-7,0,0,,,3.77,,0.00,0.00,-1.02,,,0,33408,0,0,0,44706,0,0,0,26078,0,0,0,39680,0,0,0,53390,0,0,0,5746,0,0,1,1109180,0,0,,,,,0,86194,0,0,0,60272,0,0 -17-43057152-A-G,17,43057152,rs768462633,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-17T>C,,c.5194-17T>C,intron_variant,Likely benign,415589,,1,628388,0.0000015913734826253844,0,0,,,9.52,,0.00,-0.0100,0.121,,,0,17680,0,0,0,43728,0,0,0,20952,0,0,0,36058,0,0,0,53110,0,0,0,4134,0,0,1,349874,0,0,,,,,0,69790,0,0,0,33062,0,0 -17-43057153-C-G,17,43057153,rs80358090,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-18G>C,,c.5194-18G>C,intron_variant,,,,1,1458730,6.855278221466618e-7,0,0,,,12.5,,0.00,0.00,2.92,,,0,33410,0,0,0,44708,0,0,0,26082,0,0,0,39682,0,0,0,53392,0,0,0,5748,0,0,1,1109248,0,0,,,,,0,86194,0,0,0,60266,0,0 -17-43057153-C-A,17,43057153,rs80358090,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-18G>T,,c.5194-18G>T,intron_variant,Benign/Likely benign,125803,,50,1610960,0.00003103739385211303,0,0,afr,0.00043690000000000016,12.3,,0.00,0.00,2.92,,,43,74946,0,0,3,59992,0,0,0,29554,0,0,0,44856,0,0,0,63998,0,0,0,6042,0,0,0,1177272,0,0,0,912,0,0,0,91008,0,0,4,62380,0,0 -17-43057156-C-T,17,43057156,rs2051535489,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-21G>A,,c.5194-21G>A,intron_variant,,,,2,981612,0.000002037464904667017,0,0,,,10.3,,0.00,0.00,0.596,,,0,57138,0,0,0,16240,0,0,0,8596,0,0,0,8810,0,0,0,10874,0,0,0,1934,0,0,2,826606,0,0,0,912,0,0,0,21236,0,0,0,29266,0,0 -17-43057157-C-T,17,43057157,rs1331698634,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-22G>A,,c.5194-22G>A,intron_variant,,,,1,1457180,6.862570169779986e-7,0,0,,,10.8,,0.00,0.00,-0.129,,,0,33366,0,0,1,44706,0,0,0,26076,0,0,0,39672,0,0,0,53380,0,0,0,5740,0,0,0,1107882,0,0,,,,,0,86162,0,0,0,60196,0,0 -17-43057160-T-G,17,43057160,rs2153407368,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-25A>C,,c.5194-25A>C,intron_variant,,,,4,1456268,0.0000027467471646702393,0,0,nfe,8.500000000000001e-7,8.73,,0.0100,-0.0300,-0.116,,,0,33350,0,0,0,44702,0,0,0,26062,0,0,0,39658,0,0,0,53368,0,0,0,5732,0,0,4,1107074,0,0,,,,,0,86152,0,0,0,60170,0,0 -17-43057161-C-T,17,43057161,rs761683937,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-26G>A,,c.5194-26G>A,intron_variant,,,,5,1455752,0.0000034346509570311426,0,0,nfe,8.500000000000001e-7,6.94,,0.00,0.00,-1.41,,,0,33346,0,0,0,44700,0,0,0,26060,0,0,0,39654,0,0,0,53374,0,0,0,5732,0,0,4,1106630,0,0,,,,,0,86122,0,0,1,60134,0,0 -17-43057162-A-G,17,43057162,rs1476380620,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-27T>C,,c.5194-27T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,10.8,,0.0100,-0.0200,0.113,,,0,41432,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43057165-A-G,17,43057165,rs767435205,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-30T>C,,c.5194-30T>C,intron_variant,,,,27,1606442,0.000016807329489642327,0,0,nfe,0.000014619999999999999,5.39,,0.00,0.00,-0.773,,,0,74700,0,0,1,59954,0,0,0,29516,0,0,0,44840,0,0,0,63956,0,0,1,6030,0,0,25,1173430,0,0,0,912,0,0,0,90934,0,0,0,62170,0,0 -17-43057166-T-A,17,43057166,rs1379724770,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-31A>T,,c.5194-31A>T,intron_variant,,,,1,628056,0.0000015922147069688053,0,0,,,15.3,,0.00,0.00,1.56,,,0,17674,0,0,1,43714,0,0,0,20950,0,0,0,36054,0,0,0,53082,0,0,0,4098,0,0,0,349684,0,0,,,,,0,69770,0,0,0,33030,0,0 -17-43057167-A-C,17,43057167,rs750396716,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-32T>G,,c.5194-32T>G,intron_variant,,,,3,1448800,0.000002070679182771949,0,0,nfe,7.3e-7,16.2,,0.00,0.00,1.22,,,0,33176,0,0,0,44674,0,0,0,26016,0,0,0,39610,0,0,0,53346,0,0,0,5680,0,0,3,1100430,0,0,,,,,0,85984,0,0,0,59884,0,0 -17-43057167-A-G,17,43057167,rs750396716,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-32T>C,,c.5194-32T>C,intron_variant,,,,1,1448800,6.902263942573164e-7,0,0,,,16.4,,0.00,0.00,1.22,,,0,33176,0,0,0,44674,0,0,0,26016,0,0,0,39610,0,0,0,53346,0,0,0,5680,0,0,1,1100430,0,0,,,,,0,85984,0,0,0,59884,0,0 -17-43057169-G-A,17,43057169,rs760208409,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-34C>T,,c.5194-34C>T,intron_variant,Likely benign,810894,,10,1600986,0.000006246150809563607,0,0,afr,0.00001068,16.8,,0.00,0.00,1.91,,,3,74614,0,0,0,59958,0,0,0,29494,0,0,0,44800,0,0,0,63966,0,0,0,6000,0,0,7,1168478,0,0,0,912,0,0,0,90786,0,0,0,61978,0,0 -17-43057169-G-C,17,43057169,rs760208409,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-34C>G,,c.5194-34C>G,intron_variant,,,,6,1600986,0.000003747690485738164,0,0,nfe,8e-7,16.4,,0.00,0.00,1.91,,,0,74614,0,0,0,59958,0,0,0,29494,0,0,0,44800,0,0,2,63966,0,0,0,6000,0,0,4,1168478,0,0,0,912,0,0,0,90786,0,0,0,61978,0,0 -17-43057171-G-A,17,43057171,rs765826347,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-36C>T,,c.5194-36C>T,intron_variant,,,,1,1446702,6.912273571198491e-7,0,0,,,17.2,,0.00,0.00,0.636,,,0,33130,0,0,0,44684,0,0,0,26002,0,0,0,39598,0,0,0,53350,0,0,0,5668,0,0,0,1098510,0,0,,,,,0,85942,0,0,1,59818,0,0 -17-43057171-G-C,17,43057171,rs765826347,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-36C>G,,c.5194-36C>G,intron_variant,,,,1,1446702,6.912273571198491e-7,0,0,,,16.8,,0.00,0.00,0.636,,,0,33130,0,0,0,44684,0,0,0,26002,0,0,0,39598,0,0,0,53350,0,0,0,5668,0,0,1,1098510,0,0,,,,,0,85942,0,0,0,59818,0,0 -17-43057180-G-A,17,43057180,rs2153409059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-45C>T,,c.5194-45C>T,intron_variant,,,,2,806368,0.0000024802571530616294,0,0,nfe,4.4999999999999993e-7,15.9,,0.00,0.00,0.461,,,0,15250,0,0,0,960,0,0,0,5002,0,0,0,3512,0,0,0,270,0,0,0,1572,0,0,2,737530,0,0,,,,,0,15914,0,0,0,26358,0,0 -17-43057181-C-A,17,43057181,rs2153409147,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-46G>T,,c.5194-46G>T,intron_variant,,,,1,627382,0.00000159392523215521,0,0,,,7.22,,0.00,0.00,-0.335,,,0,17646,0,0,0,43694,0,0,0,20932,0,0,0,36018,0,0,0,53034,0,0,0,4022,0,0,0,349314,0,0,,,,,1,69736,0,0,0,32986,0,0 -17-43057182-T-A,17,43057182,rs1211201107,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-47A>T,,c.5194-47A>T,intron_variant,,,,1,1425152,7.016795401472966e-7,0,0,,,8.31,,0.00,0.00,-2.07,,,0,32736,0,0,1,44636,0,0,0,25888,0,0,0,39460,0,0,0,53300,0,0,0,5570,0,0,0,1079050,0,0,,,,,0,85468,0,0,0,59044,0,0 -17-43057184-C-T,17,43057184,rs753487581,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-49G>A,,c.5194-49G>A,intron_variant,,,,2,1420962,0.0000014074971744494223,0,0,,,12.4,,0.00,0.00,1.08,,,0,32656,0,0,1,44614,0,0,0,25862,0,0,0,39450,0,0,0,53286,0,0,0,5542,0,0,1,1075262,0,0,,,,,0,85388,0,0,0,58902,0,0 -17-43057186-T-G,17,43057186,rs920642854,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-51A>C,,c.5194-51A>C,intron_variant,,,,1,152090,0.000006575054244197515,0,0,,,13.1,,0.00,0.00,0.368,,,0,41412,0,0,1,15262,0,0,0,3466,0,0,0,5186,0,0,0,10616,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 -17-43057188-C-T,17,43057188,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-53G>A,,c.5194-53G>A,intron_variant,,,,1,1403510,7.124993765630455e-7,0,0,,,12.6,,0.00,0.00,0.561,,,0,32348,0,0,0,44604,0,0,0,25742,0,0,0,39324,0,0,0,53252,0,0,0,5416,0,0,1,1059568,0,0,,,,,0,85002,0,0,0,58254,0,0 -17-43057188-C-A,17,43057188,rs1777819825,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-53G>T,,c.5194-53G>T,intron_variant,,,,2,1555602,0.0000012856758991052982,0,0,,,11.9,,0.00,0.00,0.561,,,0,73772,0,0,0,59854,0,0,0,29210,0,0,0,44512,0,0,0,63864,0,0,0,5732,0,0,0,1127578,0,0,0,912,0,0,2,89822,0,0,0,60346,0,0 -17-43057190-A-G,17,43057190,rs1451192673,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-55T>C,,c.5194-55T>C,intron_variant,,,,10,1547436,0.000006462302802829972,0,0,nfe,0.0000030700000000000003,2.58,,0.00,0.00,-2.92,,,0,73546,0,0,0,59836,0,0,0,29168,0,0,0,44478,0,0,1,63852,0,0,0,5666,0,0,8,1120292,0,0,0,912,0,0,1,89634,0,0,0,60052,0,0 -17-43057191-T-C,17,43057191,rs2153410034,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-56A>G,,c.5194-56A>G,intron_variant,,,,3,1394400,0.000002151462994836489,0,0,nfe,3.200000000000001e-7,14.1,,0.00,0.00,-0.141,,,0,32126,0,0,0,44590,0,0,0,25702,0,0,0,39284,0,0,0,53254,0,0,0,5344,0,0,2,1051362,0,0,,,,,0,84802,0,0,1,57936,0,0 -17-43057193-G-A,17,43057193,rs2153410241,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-58C>T,,c.5194-58C>T,intron_variant,,,,1,1384048,7.225182941632083e-7,0,0,,,10.5,,0.00,0.00,0.657,,,0,31922,0,0,0,44560,0,0,0,25638,0,0,0,39218,0,0,0,53234,0,0,0,5290,0,0,1,1041954,0,0,,,,,0,84590,0,0,0,57642,0,0 -17-43057194-A-C,17,43057194,rs2153410344,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-59T>G,,c.5194-59T>G,intron_variant,,,,1,152212,0.000006569784248285286,0,0,,,11.6,,0.00,0.00,0.528,,,0,41538,0,0,1,15268,0,0,0,3468,0,0,0,5178,0,0,0,10606,0,0,0,294,0,0,0,68018,0,0,0,912,0,0,0,4816,0,0,0,2114,0,0 -17-43057196-G-A,17,43057196,rs2153410529,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-61C>T,,c.5194-61C>T,intron_variant,,,,1,626118,0.0000015971430305469577,0,0,,,9.01,,0.00,0.00,1.20,,,0,17606,0,0,0,43668,0,0,0,20916,0,0,0,35978,0,0,0,52960,0,0,0,3800,0,0,1,348674,0,0,,,,,0,69636,0,0,0,32880,0,0 -17-43057196-G-C,17,43057196,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-61C>G,,c.5194-61C>G,intron_variant,,,,1,626118,0.0000015971430305469577,0,0,,,9.02,,0.00,0.00,1.20,,,0,17606,0,0,1,43668,0,0,0,20916,0,0,0,35978,0,0,0,52960,0,0,0,3800,0,0,0,348674,0,0,,,,,0,69636,0,0,0,32880,0,0 -17-43057197-T-C,17,43057197,rs2153410599,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-62A>G,,c.5194-62A>G,intron_variant,,,,1,626090,0.0000015972144579852738,0,0,,,11.3,,0.00,0.00,-0.366,,,0,17614,0,0,0,43670,0,0,0,20912,0,0,0,35966,0,0,0,52982,0,0,0,3782,0,0,0,348672,0,0,,,,,1,69624,0,0,0,32868,0,0 -17-43057198-G-T,17,43057198,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-63C>A,,c.5194-63C>A,intron_variant,,,,1,1358994,7.358384216560191e-7,0,0,,,9.25,,0.0100,0.00,-0.869,,,0,31442,0,0,0,44514,0,0,0,25504,0,0,0,39082,0,0,0,53194,0,0,0,5178,0,0,1,1019346,0,0,,,,,0,83994,0,0,0,56740,0,0 -17-43057202-C-G,17,43057202,rs2051538135,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-67G>C,,c.5194-67G>C,intron_variant,,,,1,1341396,7.454920098166388e-7,0,0,,,5.99,,0.00,0.00,-0.882,,,0,31082,0,0,0,44466,0,0,0,25324,0,0,0,38972,0,0,0,53108,0,0,0,5050,0,0,0,1003622,0,0,,,,,1,83644,0,0,0,56128,0,0 -17-43057202-C-A,17,43057202,rs2051538135,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-67G>T,,c.5194-67G>T,intron_variant,,,,17,1341396,0.00001267336416688286,0,0,nfe,0.00001032,5.80,,0.00,0.00,-0.882,,,0,31082,0,0,0,44466,0,0,0,25324,0,0,0,38972,0,0,0,53108,0,0,0,5050,0,0,17,1003622,0,0,,,,,0,83644,0,0,0,56128,0,0 -17-43057206-C-T,17,43057206,rs929323416,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-71G>A,,c.5194-71G>A,intron_variant,,,,138,1487422,0.00009277797423999376,0,0,nfe,0.0001091,1.73,,0.00,0.00,-0.136,,,1,72364,0,0,0,59704,0,0,0,28768,0,0,0,44140,0,0,0,63686,0,0,0,5314,0,0,135,1066122,0,0,0,912,0,0,0,88334,0,0,2,58078,0,0 -17-43057207-A-G,17,43057207,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-72T>C,,c.5194-72T>C,intron_variant,,,,1,624658,0.0000016008759993468427,0,0,,,4.38,,0.00,0.00,0.941,,,0,17572,0,0,1,43630,0,0,0,20878,0,0,0,35938,0,0,0,52852,0,0,0,3582,0,0,0,347982,0,0,,,,,0,69462,0,0,0,32762,0,0 -17-43057208-C-T,17,43057208,rs554045950,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-73G>A,,c.5194-73G>A,intron_variant,,,,53,1480996,0.00003578672731053966,0,0,nfe,0.00002843,0.0180,,0.00,0.00,-3.82,,,1,72348,0,0,0,59706,0,0,0,28714,0,0,1,44066,0,0,0,63630,0,0,0,5234,0,0,40,1060390,0,0,0,912,0,0,4,88120,0,0,7,57876,0,0 -17-43057209-G-C,17,43057209,rs1463949080,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-74C>G,,c.5194-74C>G,intron_variant,,,,1,152016,0.00000657825492053468,0,0,,,0.570,,0.00,0.00,0.572,,,0,41400,0,0,1,15252,0,0,0,3466,0,0,0,5182,0,0,0,10592,0,0,0,316,0,0,0,67994,0,0,0,912,0,0,0,4810,0,0,0,2092,0,0 -17-43057209-G-A,17,43057209,rs1463949080,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-74C>T,,c.5194-74C>T,intron_variant,,,,3,1321708,0.000002269790301639999,0,0,nfe,3.399999999999999e-7,0.446,,0.00,0.00,0.572,,,0,30646,0,0,0,44398,0,0,0,25184,0,0,0,38862,0,0,0,53002,0,0,0,4906,0,0,2,985990,0,0,,,,,0,83204,0,0,1,55516,0,0 -17-43063258-G-A,17,43063258,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+75C>T,,c.5193+75C>T,intron_variant,,,,1,1109006,9.017083766904777e-7,0,0,,,11.8,,0.00,0.0100,-0.227,,,0,26156,0,0,0,42406,0,0,0,23808,0,0,0,37440,0,0,0,52120,0,0,0,4394,0,0,1,796758,0,0,,,,,0,77400,0,0,0,48524,0,0 -17-43063262-G-T,17,43063262,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+71C>A,,c.5193+71C>A,intron_variant,,,,2,1145064,0.000001746627262755619,0,0,,,14.0,,0.00,0.0100,1.26,,,0,26906,0,0,0,42986,0,0,0,24006,0,0,1,37780,0,0,0,52424,0,0,0,4554,0,0,1,828286,0,0,,,,,0,78416,0,0,0,49706,0,0 -17-43063265-A-AG,17,43063265,rs2051845570,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+67dup,,c.5193+67dup,intron_variant,,,,4,1170910,0.000003416146416035391,0,0,nfe,0.0000011000000000000003,13.2,,0.00,0.0100,2.31,,,0,27520,0,0,0,43480,0,0,0,24228,0,0,0,38018,0,0,0,52658,0,0,0,4680,0,0,4,850488,0,0,,,,,0,79154,0,0,0,50684,0,0 -17-43063267-C-G,17,43063267,rs2051845747,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+66G>C,,c.5193+66G>C,intron_variant,,,,1,1193042,8.381934584029732e-7,0,0,,,4.14,,0.00,0.0100,0.374,,,0,27964,0,0,0,43686,0,0,0,24376,0,0,0,38190,0,0,0,52782,0,0,0,4790,0,0,1,870124,0,0,,,,,0,79742,0,0,0,51388,0,0 -17-43063271-T-C,17,43063271,rs2051846021,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+62A>G,,c.5193+62A>G,intron_variant,,,,2,1235850,0.0000016183193753287211,0,0,nfe,3.7000000000000006e-7,5.54,,0.00,0.00,-1.99,,,0,28816,0,0,0,44038,0,0,0,24736,0,0,0,38502,0,0,0,52964,0,0,0,5010,0,0,2,908114,0,0,,,,,0,80858,0,0,0,52812,0,0 -17-43063271-T-A,17,43063271,rs2051846021,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+62A>T,,c.5193+62A>T,intron_variant,,,,1,1235850,8.091596876643606e-7,0,0,,,4.85,,0.00,0.0100,-1.99,,,0,28816,0,0,0,44038,0,0,0,24736,0,0,0,38502,0,0,0,52964,0,0,0,5010,0,0,1,908114,0,0,,,,,0,80858,0,0,0,52812,0,0 -17-43063273-C-T,17,43063273,rs2153547729,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+60G>A,,c.5193+60G>A,intron_variant,,,,1,624144,0.0000016021943654028557,0,0,,,8.02,,0.00,0.00,-1.22,,,0,17536,0,0,0,43374,0,0,0,20872,0,0,1,35884,0,0,0,52764,0,0,0,3876,0,0,0,347860,0,0,,,,,0,69186,0,0,0,32792,0,0 -17-43063274-A-G,17,43063274,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+59T>C,,c.5193+59T>C,intron_variant,,,,1,1265430,7.902452130896217e-7,0,0,,,5.99,,0.00,0.00,-0.0380,,,0,29400,0,0,0,44180,0,0,0,24940,0,0,0,38698,0,0,0,53018,0,0,0,5168,0,0,1,934694,0,0,,,,,0,81572,0,0,0,53760,0,0 -17-43063274-A-T,17,43063274,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+59T>A,,c.5193+59T>A,intron_variant,,,,1,1265430,7.902452130896217e-7,0,0,,,5.62,,0.00,0.00,-0.0380,,,0,29400,0,0,0,44180,0,0,0,24940,0,0,0,38698,0,0,0,53018,0,0,0,5168,0,0,1,934694,0,0,,,,,0,81572,0,0,0,53760,0,0 -17-43063275-T-C,17,43063275,rs1297237971,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+58A>G,,c.5193+58A>G,intron_variant,Likely benign,522205,,12,1425218,0.000008419764555317152,0,0,nfe,0.00000419,13.2,,0.00,0.00,-0.0230,,,0,71020,0,0,0,59444,0,0,0,28466,0,0,0,43946,0,0,1,63640,0,0,0,5506,0,0,9,1009498,0,0,0,912,0,0,1,86650,0,0,1,56136,0,0 -17-43063276-T-G,17,43063276,rs2051846359,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+57A>C,,c.5193+57A>C,intron_variant,,,,1,1279002,7.818596061616792e-7,0,0,,,7.23,,0.00,0.00,-0.960,,,0,29698,0,0,0,44238,0,0,0,25038,0,0,0,38764,0,0,0,53054,0,0,0,5222,0,0,0,946794,0,0,,,,,1,81984,0,0,0,54210,0,0 -17-43063276-T-A,17,43063276,rs2051846359,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+57A>T,,c.5193+57A>T,intron_variant,,,,3,1431120,0.000002096260271675331,0,0,sas,0.00000918,7.08,,0.00,0.00,-0.960,,,0,71120,0,0,0,59494,0,0,0,28506,0,0,0,43966,0,0,0,63656,0,0,0,5538,0,0,0,1014820,0,0,0,912,0,0,3,86804,0,0,0,56304,0,0 -17-43063282-CTA-C,17,43063282,rs1597818657,CTA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+49_5193+50del,,c.5193+49_5193+50del,intron_variant,,,,11,1302712,0.000008443923138805815,0,0,nfe,0.00000522,3.30,,0.00,0.0100,0.389,,,0,30122,0,0,0,44374,0,0,0,25208,0,0,0,38912,0,0,0,53142,0,0,0,5336,0,0,10,967878,0,0,,,,,0,82674,0,0,1,55066,0,0 -17-43063284-A-G,17,43063284,rs2153548217,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+49T>C,,c.5193+49T>C,intron_variant,,,,1,1312754,7.617573437216722e-7,0,0,,,0.429,,0.0100,0.00,-1.41,,,0,30324,0,0,0,44422,0,0,0,25284,0,0,0,38964,0,0,0,53172,0,0,0,5402,0,0,1,976850,0,0,,,,,0,82964,0,0,0,55372,0,0 -17-43063286-A-G,17,43063286,rs1450608314,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+47T>C,,c.5193+47T>C,intron_variant,,,,12,1477510,0.000008121772441472477,0,0,nfe,0.00000559,2.94,,0.00,0.00,-0.0990,,,1,72018,0,0,0,59746,0,0,0,28838,0,0,0,44228,0,0,0,63816,0,0,0,5748,0,0,11,1056256,0,0,0,912,0,0,0,88076,0,0,0,57872,0,0 -17-43063287-TG-T,17,43063287,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+45del,,c.5193+45del,intron_variant,,,,1,1329624,7.520923208365673e-7,0,0,,,7.10,,0.00,0.0100,0.907,,,0,30668,0,0,0,44472,0,0,0,25390,0,0,0,39078,0,0,0,53216,0,0,0,5458,0,0,1,992058,0,0,,,,,0,83348,0,0,0,55936,0,0 -17-43063288-G-A,17,43063288,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+45C>T,,c.5193+45C>T,intron_variant,,,,1,1334690,7.492376506904225e-7,0,0,,,9.10,,0.00,0.0100,0.539,,,0,30794,0,0,0,44478,0,0,0,25402,0,0,0,39098,0,0,0,53174,0,0,0,5480,0,0,1,996706,0,0,,,,,0,83408,0,0,0,56150,0,0 -17-43063289-ACTGAATGAATATCTCTGGT-A,17,43063289,,ACTGAATGAATATCTCTGGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+25_5193+43del,,c.5193+25_5193+43del,intron_variant,,,,1,1342698,7.447691141269295e-7,0,0,,,8.92,,0.00,0.0100,0.349,,,0,30918,0,0,0,44514,0,0,0,25468,0,0,0,39126,0,0,0,53234,0,0,0,5502,0,0,1,1003978,0,0,,,,,0,83570,0,0,0,56388,0,0 -17-43063289-A-G,17,43063289,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+44T>C,,c.5193+44T>C,intron_variant,,,,1,1342698,7.447691141269295e-7,0,0,,,13.4,,0.00,-0.0100,0.349,,,0,30918,0,0,0,44514,0,0,0,25468,0,0,0,39126,0,0,0,53234,0,0,0,5502,0,0,1,1003978,0,0,,,,,0,83570,0,0,0,56388,0,0 -17-43063290-C-T,17,43063290,rs2051846860,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+43G>A,,c.5193+43G>A,intron_variant,,,,2,876326,0.0000022822556902339998,0,0,,,9.16,,0.00,0.0100,0.392,,,0,54858,0,0,0,16118,0,0,0,8018,0,0,0,8324,0,0,0,10854,0,0,0,1754,0,0,2,730826,0,0,0,912,0,0,0,18934,0,0,0,25728,0,0 -17-43063295-T-C,17,43063295,rs375647048,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+38A>G,,c.5193+38A>G,intron_variant,Likely benign,994111,,47,1529864,0.00003072168506481622,0,0,afr,0.0004363300000000002,6.44,,0.00,0.00,-2.17,,,42,73180,0,0,1,59892,0,0,0,29108,0,0,0,44462,0,0,0,63920,0,0,0,5884,0,0,1,1103640,0,0,0,912,0,0,0,89212,0,0,3,59654,0,0 -17-43063295-T-G,17,43063295,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+38A>C,,c.5193+38A>C,intron_variant,,,,1,1377498,7.259538670836545e-7,0,0,,,6.12,,0.00,0.00,-2.17,,,0,31598,0,0,0,44588,0,0,0,25636,0,0,0,39272,0,0,0,53290,0,0,0,5590,0,0,1,1035604,0,0,,,,,0,84382,0,0,0,57538,0,0 -17-43063296-G-A,17,43063296,rs1368548128,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5193+37C>T,,c.5193+37C>T,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,6.54,,0.00,0.0100,1.94,,,1,41430,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43063298-A-G,17,43063298,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+35T>C,,c.5193+35T>C,intron_variant,,,,10,1389102,0.000007198895401489596,0,0,nfe,0.00000483,5.83,,0.00,-0.0100,1.50,,,0,31816,0,0,0,44614,0,0,0,25704,0,0,0,39322,0,0,0,53302,0,0,0,5644,0,0,10,1046178,0,0,,,,,0,84646,0,0,0,57876,0,0 -17-43063300-A-G,17,43063300,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+33T>C,,c.5193+33T>C,intron_variant,,,,2,1396010,0.0000014326544938789837,0,0,nfe,3.200000000000001e-7,1.77,,0.0100,-0.0100,0.837,,,0,31924,0,0,0,44624,0,0,0,25758,0,0,0,39360,0,0,0,53304,0,0,0,5660,0,0,2,1052514,0,0,,,,,0,84782,0,0,0,58084,0,0 -17-43063304-C-T,17,43063304,rs1239995634,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+29G>A,,c.5193+29G>A,intron_variant,not provided,865141,,1,628404,0.0000015913329641440857,0,0,,,0.835,,0.00,0.00,-0.103,,,0,17684,0,0,0,43728,0,0,0,20978,0,0,0,36050,0,0,0,53058,0,0,0,4136,0,0,1,349950,0,0,,,,,0,69770,0,0,0,33050,0,0 -17-43063305-TG-T,17,43063305,rs2153549559,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+27del,,c.5193+27del,intron_variant,,,,1,1412424,7.080026960742667e-7,0,0,,,3.43,,0.00,0.0100,0.209,,,0,32268,0,0,0,44640,0,0,0,25852,0,0,0,39466,0,0,0,53330,0,0,0,5682,0,0,1,1067368,0,0,,,,,0,85140,0,0,0,58678,0,0 -17-43063305-T-C,17,43063305,rs1440184813,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+28A>G,,c.5193+28A>G,intron_variant,not provided,865139,,1,1412428,7.080006910086745e-7,0,0,,,9.17,,0.00,0.00,0.209,,,0,32268,0,0,0,44640,0,0,0,25852,0,0,0,39466,0,0,0,53330,0,0,0,5682,0,0,1,1067372,0,0,,,,,0,85140,0,0,0,58678,0,0 -17-43063306-G-A,17,43063306,rs2051847922,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+27C>T,,c.5193+27C>T,intron_variant,,,,1,785766,0.000001272643509645365,0,0,,,5.86,,0.00,0.0100,2.79,,,0,14634,0,0,0,912,0,0,0,4882,0,0,0,3428,0,0,0,266,0,0,0,1552,0,0,0,719040,0,0,,,,,1,15388,0,0,0,25664,0,0 -17-43063307-G-C,17,43063307,rs1177812250,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+26C>G,,c.5193+26C>G,intron_variant,not provided,865135,,1,1418616,7.049123934877373e-7,0,0,,,1.66,,0.00,-0.0100,0.420,,,0,32432,0,0,1,44646,0,0,0,25876,0,0,0,39488,0,0,0,53318,0,0,0,5702,0,0,0,1072970,0,0,,,,,0,85284,0,0,0,58900,0,0 -17-43063307-G-A,17,43063307,rs1177812250,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+26C>T,,c.5193+26C>T,intron_variant,not provided,865136,,2,1570758,0.0000012732706120229852,0,0,,,1.81,,0.00,0.00,0.420,,,2,73848,0,0,0,59922,0,0,0,29346,0,0,0,44684,0,0,0,63920,0,0,0,6018,0,0,0,1141002,0,0,0,910,0,0,0,90116,0,0,0,60992,0,0 -17-43063311-G-A,17,43063311,rs8176260,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+22C>T,,c.5193+22C>T,intron_variant,Likely benign,188418,,81,1583436,0.00005115457776632589,0,0,afr,0.00086295,14.3,,0.00,0.00,1.69,,,78,74228,0,0,0,59964,0,0,0,29430,0,0,0,44748,0,0,0,63944,0,0,0,6012,0,0,1,1152322,0,0,0,912,0,0,0,90426,0,0,2,61450,0,0 -17-43063314-T-C,17,43063314,rs1555578276,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+19A>G,,c.5193+19A>G,intron_variant,Conflicting interpretations of pathogenicity,491099,,2,1437298,0.0000013914998838097597,0,0,afr,0.00001009,8.19,,0.00,0.00,-0.0110,,,2,32814,0,0,0,44672,0,0,0,26010,0,0,0,39584,0,0,0,53350,0,0,0,5730,0,0,0,1089882,0,0,,,,,0,85706,0,0,0,59550,0,0 -17-43063315-G-C,17,43063315,rs2051849852,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+18C>G,,c.5193+18C>G,intron_variant,Likely benign,867480,,2,1437104,0.0000013916877275409434,0,0,,,11.2,,0.0100,-0.0200,0.322,,,0,32828,0,0,0,44680,0,0,0,26014,0,0,0,39576,0,0,0,53322,0,0,0,5728,0,0,0,1089674,0,0,,,,,0,85724,0,0,2,59558,0,0 -17-43063315-G-GT,17,43063315,rs2051850260,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5193+17dup,,c.5193+17dup,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,14.2,,0.00,0.0100,0.322,,,0,41428,0,0,0,15278,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,1,4830,0,0,0,2090,0,0 -17-43063320-A-G,17,43063320,rs273901750,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+13T>C,,c.5193+13T>C,intron_variant,Likely benign,868138,,1,818024,0.000001222458020791566,0,0,,,16.5,,0.00,0.00,2.79,,,0,15370,0,0,0,964,0,0,0,5072,0,0,0,3566,0,0,0,276,0,0,0,1598,0,0,1,748208,0,0,,,,,0,16126,0,0,0,26844,0,0 -17-43063321-TC-T,17,43063321,rs753793287,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11del,,c.5193+11del,intron_variant,,,,1,1447764,6.907203107688822e-7,0,0,,,11.3,,0.00,0.0100,-0.181,,,0,33088,0,0,1,44700,0,0,0,26060,0,0,0,39628,0,0,0,53348,0,0,0,5752,0,0,0,1099314,0,0,,,,,0,85926,0,0,0,59948,0,0 -17-43063321-T-A,17,43063321,rs2051851343,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+12A>T,,c.5193+12A>T,intron_variant,not provided,868137,,1,1447764,6.907203107688822e-7,0,0,,,13.8,,0.00,0.00,-0.181,,,0,33088,0,0,0,44700,0,0,0,26060,0,0,0,39628,0,0,0,53348,0,0,0,5752,0,0,1,1099314,0,0,,,,,0,85926,0,0,0,59948,0,0 -17-43063322-C-T,17,43063322,rs1567768534,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11G>A,,c.5193+11G>A,intron_variant,Likely benign,867799,,1,1448484,6.903769734425786e-7,0,0,,,14.0,,0.00,0.00,0.658,,,0,33110,0,0,0,44698,0,0,0,26060,0,0,0,39630,0,0,0,53350,0,0,0,5752,0,0,1,1099980,0,0,,,,,0,85940,0,0,0,59964,0,0 -17-43063322-C-A,17,43063322,rs1567768534,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11G>T,,c.5193+11G>T,intron_variant,Conflicting interpretations of pathogenicity,628401,,1,1448484,6.903769734425786e-7,0,0,,,13.4,,0.00,0.00,0.658,,,0,33110,0,0,0,44698,0,0,0,26060,0,0,0,39630,0,0,0,53350,0,0,0,5752,0,0,1,1099980,0,0,,,,,0,85940,0,0,0,59964,0,0 -17-43063327-A-G,17,43063327,rs1555578283,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+6T>C,,c.5193+6T>C,intron_variant,Uncertain significance,462664,,1,823384,0.000001214500160314021,0,0,,,17.4,,0.0100,-0.0700,4.65,,,0,15504,0,0,0,970,0,0,0,5096,0,0,0,3588,0,0,0,274,0,0,0,1614,0,0,1,753102,0,0,,,,,0,16238,0,0,0,26998,0,0 -17-43063330-TA-T,17,43063330,rs273901751,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+2del,,c.5193+2del,splice_donor_variant,Pathogenic,55450,,3,1453728,0.0000020636597767945584,0,0,nfe,2.999999999999999e-7,32.0,,0.980,-0.860,1.44,,,0,33262,0,0,0,44710,0,0,0,26084,0,0,0,39656,0,0,0,53348,0,0,0,5760,0,0,2,1104692,0,0,,,,,0,86068,0,0,1,60148,0,0 -17-43063330-T-C,17,43063330,rs1060502326,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+3A>G,,c.5193+3A>G,intron_variant,Conflicting interpretations of pathogenicity,409301,,7,1453732,0.0000048151928966274385,0,0,afr,0.00000996,14.7,,0.00,-0.0200,1.44,,,2,33262,0,0,0,44710,0,0,0,26084,0,0,0,39656,0,0,0,53348,0,0,0,5760,0,0,5,1104696,0,0,,,,,0,86068,0,0,0,60148,0,0 -17-43063331-A-T,17,43063331,rs886040915,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+2T>A,,c.5193+2T>A,splice_donor_variant,not provided,868127,,1,1454500,6.875214850464077e-7,0,0,,,33.0,,0.980,-0.840,6.33,,,1,33284,0,0,0,44710,0,0,0,26090,0,0,0,39652,0,0,0,53342,0,0,0,5764,0,0,0,1105400,0,0,,,,,0,86086,0,0,0,60172,0,0 -17-43063333-C-T,17,43063333,rs876660702,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1731Glu,p.Glu1731Glu,c.5193G>A,splice_region_variant,Likely benign,233877,,1,1455884,6.868679098060011e-7,0,0,,,22.3,,0.0200,-0.0900,7.14,,,0,33342,0,0,0,44712,0,0,0,26104,0,0,0,39666,0,0,0,53336,0,0,0,5762,0,0,1,1106638,0,0,,,,,0,86136,0,0,0,60188,0,0 -17-43063335-C-T,17,43063335,rs397507244,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1731Lys,p.Glu1731Lys,c.5191G>A,missense_variant,Conflicting interpretations of pathogenicity,91641,,1,628620,0.0000015907861665234959,0,0,,,32.0,0.586,0.0100,-0.0100,8.90,0.0100,0.145,0,17692,0,0,0,43740,0,0,0,20982,0,0,1,36056,0,0,0,53052,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43063337-T-C,17,43063337,rs80357171,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1730Ser,p.Asn1730Ser,c.5189A>G,missense_variant,Conflicting interpretations of pathogenicity,55447,,18,1609448,0.000011183958723736336,0,0,afr,0.00009223999999999998,20.9,0.344,0.00,-0.0200,2.36,0.150,0.00600,12,74836,0,0,0,59994,0,0,0,29580,0,0,0,44874,0,0,0,63956,0,0,0,6078,0,0,6,1175880,0,0,0,912,0,0,0,91006,0,0,0,62332,0,0 -17-43063340-A-T,17,43063340,rs730881496,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1729Gln,p.Leu1729Gln,c.5186T>A,missense_variant,Uncertain significance,182166,,3,1610158,0.0000018631711918954538,1,0,,,28.9,0.825,0.00,-0.0100,6.33,0.00,0.467,0,74990,0,0,0,60010,0,0,0,29580,0,0,0,44864,0,0,0,63958,0,0,2,6058,1,0,1,1176404,0,0,0,912,0,0,0,91004,0,0,0,62378,0,0 -17-43063340-A-C,17,43063340,rs730881496,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1729Arg,p.Leu1729Arg,c.5186T>G,missense_variant,not provided,868121,,2,1457798,0.0000013719321881358048,0,0,afr,0.00000992,28.5,0.820,0.00,0.00,6.33,0.00,0.0220,2,33394,0,0,0,44712,0,0,0,26108,0,0,0,39670,0,0,0,53334,0,0,0,5764,0,0,0,1108378,0,0,,,,,0,86172,0,0,0,60266,0,0 -17-43063341-G-C,17,43063341,rs1207677103,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1729Val,p.Leu1729Val,c.5185C>G,missense_variant,not provided,868120,,2,1457686,0.0000013720375993183718,0,0,afr,0.00000992,26.2,0.603,0.00,-0.0200,5.87,0.00,0.0830,2,33390,0,0,0,44714,0,0,0,26110,0,0,0,39674,0,0,0,53290,0,0,0,5764,0,0,0,1108308,0,0,,,,,0,86168,0,0,0,60268,0,0 -17-43063343-A-G,17,43063343,rs2051858178,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1728Thr,p.Met1728Thr,c.5183T>C,missense_variant,Uncertain significance,867779,,1,152176,0.00000657133845021554,0,0,,,22.8,0.513,0.00,0.00,4.68,,,0,41438,0,0,1,15264,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2086,0,0 -17-43063344-T-C,17,43063344,rs2051858497,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1728Val,p.Met1728Val,c.5182A>G,missense_variant,not provided,867776,,1,628588,0.000001590867149866049,0,0,,,13.6,0.480,0.00,0.00,-0.00100,0.420,0.00,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53012,0,0,0,4148,0,0,0,350072,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43063345-TTTTC-T,17,43063345,rs80357867,TTTTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1726LysfsTer3,p.Arg1726LysfsTer3,c.5177_5180del,frameshift_variant,Pathogenic,37644,lof_flag,4,780762,0.000005123200155745285,0,0,afr,0.00001346,35.0,,0.0100,-0.0400,1.67,,,3,59138,0,0,0,58998,0,0,0,24454,0,0,0,41258,0,0,0,63630,0,0,0,4464,0,0,1,418102,0,0,0,912,0,0,0,74624,0,0,0,35182,0,0 -17-43063347-T-A,17,43063347,rs80357347,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1727Ter,p.Lys1727Ter,c.5179A>T,stop_gained,Pathogenic,37645,lof_flag,1,1458840,6.854761317210935e-7,0,0,,,48.0,,0.0100,-0.150,6.36,,,0,33410,0,0,0,44714,0,0,0,26114,0,0,0,39680,0,0,0,53306,0,0,0,5762,0,0,1,1109350,0,0,,,,,0,86202,0,0,0,60302,0,0 -17-43063349-C-A,17,43063349,rs786203547,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1726Ile,p.Arg1726Ile,c.5177G>T,missense_variant,Conflicting interpretations of pathogenicity,187201,,11,1458812,0.000007540382173988149,0,0,nfe,0.00000532,25.8,0.521,0.0200,-0.0500,0.794,0.0200,0.0210,0,33404,0,0,0,44714,0,0,0,26118,0,0,0,39676,0,0,0,53272,0,0,0,5762,0,0,11,1109370,0,0,,,,,0,86198,0,0,0,60298,0,0 -17-43063350-T-C,17,43063350,rs80357501,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1726Gly,p.Arg1726Gly,c.5176A>G,missense_variant,Conflicting interpretations of pathogenicity,55443,,32,1458894,0.000021934424296761795,0,0,nfe,0.0000175,16.8,0.484,0.00,0.00,0.0300,0.330,0.00,1,33410,0,0,2,44714,0,0,0,26118,0,0,0,39678,0,0,0,53308,0,0,0,5762,0,0,28,1109400,0,0,,,,,0,86196,0,0,1,60308,0,0 -17-43063351-T-C,17,43063351,rs191373374,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1725Glu,p.Glu1725Glu,c.5175A>G,synonymous_variant,Likely benign,136552,,70,1611322,0.00004344258937692156,0,0,amr,0.00016623999999999998,9.97,,0.00,0.00,1.40,,,1,75000,0,0,16,60014,0,0,0,29588,0,0,0,44874,0,0,0,63934,0,0,2,6056,0,0,39,1177484,0,0,0,912,0,0,0,91030,0,0,12,62430,0,0 -17-43063354-T-G,17,43063354,rs879254150,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1724Asn,p.Lys1724Asn,c.5172A>C,missense_variant,Uncertain significance,246200,,1,628580,0.000001590887396990041,0,0,,,25.0,0.627,0.00,0.00,0.818,0.00,0.205,0,17692,0,0,1,43740,0,0,0,20982,0,0,0,36056,0,0,0,52988,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43063357-A-G,17,43063357,rs2051864221,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Ile,p.Ile1723Ile,c.5169T>C,synonymous_variant,not provided,867431,,1,628570,0.0000015909127066197878,0,0,,,9.27,,0.0100,0.00,0.394,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,52980,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43063358-A-C,17,43063358,rs1064793533,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Ser,p.Ile1723Ser,c.5168T>G,missense_variant,not provided,867429,,1,830728,0.0000012037634460376923,0,0,,,32.0,0.656,0.0100,-0.0200,3.71,0.00,0.347,0,15732,0,0,0,976,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1614,0,0,1,759726,0,0,,,,,0,16406,0,0,0,27232,0,0 -17-43063359-T-C,17,43063359,rs1426821558,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Val,p.Ile1723Val,c.5167A>G,missense_variant,Conflicting interpretations of pathogenicity,462662,,1,628554,0.0000015909532037024663,0,0,,,20.9,0.420,0.00,0.00,0.0210,0.0600,0.106,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,52966,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69796,0,0,0,33092,0,0 -17-43063361-G-A,17,43063361,rs80357104,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1722Phe,p.Ser1722Phe,c.5165C>T,missense_variant,Pathogenic/Likely pathogenic,55441,,1,1459212,6.853013818417063e-7,0,0,,,30.0,0.756,0.00,-0.0200,4.96,0.00,0.873,0,33418,0,0,1,44712,0,0,0,26122,0,0,0,39684,0,0,0,53198,0,0,0,5760,0,0,0,1109798,0,0,,,,,0,86202,0,0,0,60318,0,0 -17-43063363-C-T,17,43063363,rs1403122031,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1721Gln,p.Gln1721Gln,c.5163G>A,synonymous_variant,Likely benign,482939,,16,1459426,0.000010963214304802025,0,0,nfe,0.00000853,10.7,,0.0100,-0.0300,1.69,,,0,33426,0,0,0,44712,0,0,0,26126,0,0,0,39684,0,0,0,53200,0,0,0,5762,0,0,16,1109990,0,0,,,,,0,86200,0,0,0,60326,0,0 -17-43063366-G-C,17,43063366,rs376736915,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1720Thr,p.Thr1720Thr,c.5160C>G,synonymous_variant,Likely benign,427321,,1,152016,0.00000657825492053468,0,0,,,6.68,,0.0100,0.0100,0.716,,,0,41358,0,0,0,15252,0,0,0,3470,0,0,0,5192,0,0,0,10588,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 -17-43063366-G-A,17,43063366,rs376736915,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1720Thr,p.Thr1720Thr,c.5160C>T,synonymous_variant,Likely benign,1745727,,1,1459194,6.853098354296961e-7,0,0,,,11.3,,0.0100,-0.0300,0.716,,,0,33422,0,0,0,44710,0,0,0,26122,0,0,1,39678,0,0,0,53178,0,0,0,5762,0,0,0,1109814,0,0,,,,,0,86196,0,0,0,60312,0,0 -17-43063368-T-C,17,43063368,rs56195342,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1720Ala,p.Thr1720Ala,c.5158A>G,missense_variant,Benign,55438,,203,1611752,0.0001259498979991959,0,0,amr,0.0006634700000000002,23.7,0.445,0.0100,-0.0100,2.99,0.0300,0.0520,1,74974,0,0,51,60008,0,0,0,29600,0,0,0,44876,0,0,0,63804,0,0,0,6056,0,0,143,1178052,0,0,0,912,0,0,0,91026,0,0,8,62444,0,0 -17-43063369-C-A,17,43063369,rs28897697,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1719Val,p.Val1719Val,c.5157G>T,synonymous_variant,Likely benign,184120,,89,1611588,0.00005522503270066543,0,0,nfe,0.00005803,12.4,,0.0100,-0.0400,0.398,,,2,74982,0,0,0,59996,0,0,0,29600,0,0,0,44876,0,0,0,63756,0,0,0,6054,0,0,83,1177960,0,0,0,912,0,0,0,91016,0,0,4,62436,0,0 -17-43063369-C-T,17,43063369,rs28897697,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Val,p.Val1719Val,c.5157G>A,synonymous_variant,Likely benign,136089,,13,1459316,0.00000890828305863843,0,0,nfe,0.00000654,13.7,,0.0100,-0.0400,0.398,,,0,33424,0,0,0,44710,0,0,0,26128,0,0,0,39684,0,0,0,53146,0,0,0,5760,0,0,13,1109952,0,0,,,,,0,86190,0,0,0,60322,0,0 -17-43063370-A-T,17,43063370,rs1247437511,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Glu,p.Val1719Glu,c.5156T>A,missense_variant,not provided,867427,,1,830818,0.000001203633045986004,0,0,,,28.1,0.857,0.00,-0.0100,6.33,0.00,0.0170,0,15740,0,0,0,974,0,0,0,5142,0,0,0,3626,0,0,0,276,0,0,0,1614,0,0,1,759816,0,0,,,,,0,16402,0,0,0,27228,0,0 -17-43063371-C-G,17,43063371,rs749465132,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Leu,p.Val1719Leu,c.5155G>C,missense_variant,not provided,867426,,1,1459156,6.853276825781479e-7,0,0,,,23.0,0.465,0.00,0.00,7.13,0.00,0.00500,0,33430,0,0,0,44714,0,0,0,26122,0,0,0,39680,0,0,0,53130,0,0,0,5762,0,0,1,1109812,0,0,,,,,0,86192,0,0,0,60314,0,0 -17-43063371-C-A,17,43063371,rs749465132,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Leu,p.Val1719Leu,c.5155G>T,missense_variant,Conflicting interpretations of pathogenicity,245993,,1,1459156,6.853276825781479e-7,0,0,,,23.0,0.465,0.00,0.00,7.13,0.00,0.00500,0,33430,0,0,1,44714,0,0,0,26122,0,0,0,39680,0,0,0,53130,0,0,0,5762,0,0,0,1109812,0,0,,,,,0,86192,0,0,0,60314,0,0 -17-43063373-C-T,17,43063373,rs41293461,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1718Ter,p.Trp1718Ter,c.5153G>A,stop_gained,Pathogenic,55432,lof_flag,6,830644,0.000007223311069483437,0,0,nfe,0.00000284,49.0,,0.0600,-0.0700,8.90,,,0,15726,0,0,0,972,0,0,0,5144,0,0,0,3622,0,0,0,276,0,0,0,1614,0,0,6,759672,0,0,,,,,0,16392,0,0,0,27226,0,0 -17-43063374-CT-C,17,43063374,rs273901746,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-2del,,c.5153-2del,splice_acceptor_variant,Pathogenic,55431,,1,830516,0.0000012040707222979448,0,0,,,32.0,,0.990,-0.860,8.90,,,0,15724,0,0,0,976,0,0,0,5146,0,0,0,3624,0,0,0,276,0,0,0,1614,0,0,1,759542,0,0,,,,,0,16384,0,0,0,27230,0,0 -17-43063375-T-C,17,43063375,rs786202545,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-2A>G,,c.5153-2A>G,splice_acceptor_variant,Pathogenic/Likely pathogenic,185900,,1,1458770,6.855090247263105e-7,0,0,,,34.0,,0.990,-0.860,6.36,,,0,33420,0,0,0,44714,0,0,0,26124,0,0,0,39680,0,0,0,53098,0,0,0,5762,0,0,0,1109486,0,0,,,,,1,86180,0,0,0,60306,0,0 -17-43063376-A-G,17,43063376,rs375639469,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-3T>C,,c.5153-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,91639,,5,1610902,0.0000031038511343334354,0,0,nfe,8e-7,9.72,,0.0100,0.0300,0.606,,,1,74870,0,0,0,59992,0,0,0,29594,0,0,0,44878,0,0,0,63696,0,0,0,6078,0,0,4,1177480,0,0,0,912,0,0,0,91012,0,0,0,62390,0,0 -17-43063378-A-G,17,43063378,rs1218652386,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-5T>C,,c.5153-5T>C,splice_region_variant,Likely benign,517713,,1,628294,0.000001591611570379472,0,0,,,12.7,,0.00,-0.0400,2.95,,,1,17690,0,0,0,43738,0,0,0,20982,0,0,0,36050,0,0,0,52740,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69792,0,0,0,33090,0,0 -17-43063379-G-T,17,43063379,rs80358129,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-6C>A,,c.5153-6C>A,splice_region_variant,Benign,96941,,44,1610314,0.000027323863544625458,0,0,nfe,0.000024,14.9,,0.0200,-0.0500,1.99,,,0,74822,0,0,0,59974,0,0,0,29596,0,0,0,44878,0,0,3,63556,0,0,0,6078,0,0,38,1177124,0,0,0,912,0,0,0,90996,0,0,3,62378,0,0 -17-43063379-G-A,17,43063379,rs80358129,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-6C>T,,c.5153-6C>T,splice_region_variant,Likely benign,265051,,8,1610316,0.0000049679690197451926,0,0,nfe,0.00000292,12.6,,0.0100,0.00,1.99,,,0,74822,0,0,0,59974,0,0,0,29596,0,0,0,44878,0,0,0,63556,0,0,0,6078,0,0,8,1177126,0,0,0,912,0,0,0,90996,0,0,0,62378,0,0 -17-43063381-G-T,17,43063381,rs1060504570,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-8C>A,,c.5153-8C>A,splice_region_variant,Conflicting interpretations of pathogenicity,415573,,2,1457828,0.000001371903955747866,0,0,,,16.6,,0.0200,-0.0700,1.34,,,0,33382,0,0,0,44710,0,0,0,26124,0,0,0,39674,0,0,0,52952,0,0,0,5762,0,0,1,1108780,0,0,,,,,0,86166,0,0,1,60278,0,0 -17-43063382-A-C,17,43063382,rs2051874564,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-9T>G,,c.5153-9T>G,intron_variant,not provided,867420,,2,1609780,0.0000012424057945806258,0,0,,,32.0,,0.600,-0.510,4.70,,,0,74818,0,0,0,59982,0,0,0,29592,0,0,0,44876,0,0,0,63568,0,0,0,6078,0,0,2,1176614,0,0,0,912,0,0,0,90988,0,0,0,62352,0,0 -17-43063382-A-AAAAGG,17,43063382,rs2051874779,A,AAAAGG,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-10_5153-9insCCTTT,,c.5153-10_5153-9insCCTTT,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,18.3,,0.0100,0.0100,4.70,,,1,41434,0,0,0,15270,0,0,0,3470,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43063382-A-G,17,43063382,rs2051874564,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-9T>C,,c.5153-9T>C,intron_variant,Likely benign,865062,,1,1457608,6.860555101234351e-7,0,0,,,21.7,,0.0200,-0.0800,4.70,,,0,33384,0,0,0,44712,0,0,0,26122,0,0,0,39674,0,0,0,52954,0,0,1,5762,0,0,0,1108576,0,0,,,,,0,86160,0,0,0,60264,0,0 -17-43063383-T-TTA,17,43063383,rs2051875170,T,TTA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-11_5153-10insTA,,c.5153-11_5153-10insTA,intron_variant,,,,1,152110,0.00000657418973111564,0,0,,,8.67,,0.0100,-0.0200,-1.22,,,1,41428,0,0,0,15248,0,0,0,3472,0,0,0,5202,0,0,0,10598,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43063385-A-G,17,43063385,rs1567768851,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-12T>C,,c.5153-12T>C,intron_variant,not provided,868751,,2,1456984,0.0000013726986706786073,0,0,nfe,2.999999999999999e-7,19.8,,0.0100,-0.0300,2.91,,,0,33372,0,0,0,44712,0,0,0,26118,0,0,0,39664,0,0,0,52920,0,0,0,5764,0,0,2,1108030,0,0,,,,,0,86154,0,0,0,60250,0,0 -17-43063386-T-C,17,43063386,rs45471406,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-13A>G,,c.5153-13A>G,intron_variant,Benign,125783,,47,1608488,0.000029219987963851766,0,0,nfe,0.00002837,14.2,,0.00,0.00,-0.00500,,,1,74810,0,0,0,59968,0,0,0,29582,0,0,0,44866,0,0,0,63512,0,0,0,6080,0,0,44,1175456,0,0,0,910,0,0,1,90966,0,0,1,62338,0,0 -17-43063386-T-TACAGC,17,43063386,rs2051876061,T,TACAGC,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-14_5153-13insGCTGT,,c.5153-14_5153-13insGCTGT,intron_variant,Likely benign,1975637,,1,152166,0.000006571770303484353,0,0,,,16.4,,0.0500,-0.0900,-0.00500,,,1,41448,0,0,0,15264,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4822,0,0,0,2090,0,0 -17-43063395-C-CT,17,43063395,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-23_5153-22insA,,c.5153-23_5153-22insA,intron_variant,,,,1,1449402,6.899397130678721e-7,0,0,,,7.99,,0.0100,-0.0300,-0.868,,,0,33204,0,0,0,44702,0,0,0,26068,0,0,0,39630,0,0,0,52658,0,0,0,5750,0,0,1,1101384,0,0,,,,,0,86024,0,0,0,59982,0,0 -17-43063397-G-C,17,43063397,rs1313068638,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-24C>G,,c.5153-24C>G,intron_variant,not provided,868733,,2,1446014,0.0000013831124733232182,0,0,,,0.720,,0.00,0.00,0.167,,,0,33134,0,0,0,44690,0,0,0,26056,0,0,1,39608,0,0,0,52568,0,0,0,5740,0,0,1,1098408,0,0,,,,,0,85918,0,0,0,59892,0,0 -17-43063398-G-T,17,43063398,rs1458162596,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-25C>A,,c.5153-25C>A,intron_variant,not provided,867721,,3,1441868,0.0000020806342882982355,0,0,nfe,2.999999999999999e-7,15.3,,0.0100,-0.0600,2.91,,,0,33048,0,0,0,44692,0,0,0,26030,0,0,0,39594,0,0,0,52500,0,0,0,5734,0,0,2,1094660,0,0,,,,,1,85848,0,0,0,59762,0,0 -17-43063399-T-C,17,43063399,rs80358109,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-26A>G,,c.5153-26A>G,intron_variant,Conflicting interpretations of pathogenicity,125786,,8,814292,0.000009824485565374583,0,0,nfe,0.0000029,21.9,,0.230,-0.410,3.74,,,0,15364,0,0,0,960,0,0,0,5048,0,0,0,3550,0,0,0,268,0,0,1,1584,0,0,6,744752,0,0,,,,,0,16060,0,0,1,26706,0,0 -17-43063402-C-T,17,43063402,rs2051879159,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-29G>A,,c.5153-29G>A,intron_variant,not provided,867406,,1,1435416,6.966621522959198e-7,0,0,,,7.81,,0.00,-0.0100,1.00,,,0,32912,0,0,0,44680,0,0,0,26016,0,0,0,39554,0,0,0,52386,0,0,0,5720,0,0,1,1088856,0,0,,,,,0,85750,0,0,0,59542,0,0 -17-43063404-T-A,17,43063404,rs370536578,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-31A>T,,c.5153-31A>T,intron_variant,Likely benign,803406,,15,1583224,0.000009474338438527965,0,0,eas,0.00020637999999999999,0.0330,,0.00,0.00,-4.59,,,0,74256,0,0,0,59944,0,0,0,29444,0,0,15,44748,0,0,0,62924,0,0,0,6030,0,0,0,1153014,0,0,0,910,0,0,0,90470,0,0,0,61484,0,0 -17-43063404-T-C,17,43063404,rs370536578,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-31A>G,,c.5153-31A>G,intron_variant,Likely benign,433725,,46,1583340,0.00002905250925259262,0,0,nfe,0.00002727,0.0430,,0.00,0.00,-4.59,,,1,74378,0,0,1,59964,0,0,0,29444,0,0,0,44736,0,0,0,62924,0,0,0,6008,0,0,42,1153004,0,0,0,910,0,0,0,90466,0,0,2,61506,0,0 -17-43063405-A-G,17,43063405,rs1222083835,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-32T>C,,c.5153-32T>C,intron_variant,Likely benign,2576271,,3,1577344,0.0000019019313478860666,0,0,nfe,6.999999999999999e-7,6.18,,0.00,-0.0200,-0.279,,,0,74144,0,0,0,59934,0,0,0,29408,0,0,0,44704,0,0,0,62836,0,0,0,6014,0,0,3,1147738,0,0,0,912,0,0,0,90362,0,0,0,61292,0,0 -17-43063405-ACAG-A,17,43063405,rs1345202803,ACAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-35_5153-33del,,c.5153-35_5153-33del,intron_variant,,,,1,152220,0.000006569438969911969,0,0,,,10.9,,0.0100,-0.0300,-0.279,,,1,41464,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4830,0,0,0,2084,0,0 -17-43063406-C-G,17,43063406,rs773082120,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-33G>C,,c.5153-33G>C,intron_variant,,,,2,1425310,0.0000014032035136215982,0,0,,,4.11,,0.00,-0.0200,-0.339,,,0,32686,0,0,0,44662,0,0,0,25936,0,0,0,39508,0,0,0,52176,0,0,0,5698,0,0,1,1079866,0,0,,,,,0,85536,0,0,1,59242,0,0 -17-43063408-G-A,17,43063408,rs1425411094,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-35C>T,,c.5153-35C>T,intron_variant,Likely benign,1275828,,1,1403062,7.127268787836888e-7,0,0,,,13.1,,0.00,0.00,3.31,,,0,32238,0,0,1,44644,0,0,0,25828,0,0,0,39414,0,0,0,51924,0,0,0,5664,0,0,0,1059872,0,0,,,,,0,85046,0,0,0,58432,0,0 -17-43063409-CAGA-C,17,43063409,,CAGA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-39_5153-37del,,c.5153-39_5153-37del,intron_variant,,,,1,1404706,7.118927376974257e-7,0,0,,,12.5,,0.0100,-0.0300,0.495,,,0,32274,0,0,0,44634,0,0,0,25840,0,0,0,39416,0,0,0,51952,0,0,0,5666,0,0,0,1061336,0,0,,,,,1,85082,0,0,0,58506,0,0 -17-43063409-C-T,17,43063409,rs2153570228,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-36G>A,,c.5153-36G>A,intron_variant,,,,1,1404706,7.118927376974257e-7,0,0,,,13.8,,0.00,0.00,0.495,,,0,32274,0,0,0,44634,0,0,0,25840,0,0,0,39416,0,0,0,51952,0,0,0,5666,0,0,1,1061336,0,0,,,,,0,85082,0,0,0,58506,0,0 -17-43063411-G-A,17,43063411,rs2153570299,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-38C>T,,c.5153-38C>T,intron_variant,,,,1,1398228,7.151909416776091e-7,0,0,,,8.27,,0.00,0.00,0.213,,,0,32156,0,0,0,44626,0,0,0,25796,0,0,0,39382,0,0,0,51816,0,0,0,5660,0,0,1,1055550,0,0,,,,,0,84962,0,0,0,58280,0,0 -17-43063413-A-G,17,43063413,rs760559327,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-40T>C,,c.5153-40T>C,intron_variant,,,,8,1544984,0.00000517804715129736,0,0,nfe,0.0000026000000000000005,11.6,,0.00,-0.0100,1.26,,,1,73514,0,0,0,59900,0,0,0,29252,0,0,0,44566,0,0,0,62406,0,0,0,5960,0,0,7,1118676,0,0,0,912,0,0,0,89612,0,0,0,60186,0,0 -17-43063414-G-C,17,43063414,rs2153570407,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-41C>G,,c.5153-41C>G,intron_variant,,,,1,1389134,7.198729568205803e-7,0,0,,,6.03,,0.00,0.00,-0.0890,,,0,31970,0,0,0,44612,0,0,0,25758,0,0,0,39346,0,0,0,51684,0,0,0,5644,0,0,1,1047434,0,0,,,,,0,84700,0,0,0,57986,0,0 -17-43063414-G-A,17,43063414,rs2153570407,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-41C>T,,c.5153-41C>T,intron_variant,,,,1,1389134,7.198729568205803e-7,0,0,,,6.13,,0.00,0.00,-0.0890,,,0,31970,0,0,0,44612,0,0,0,25758,0,0,0,39346,0,0,0,51684,0,0,0,5644,0,0,1,1047434,0,0,,,,,0,84700,0,0,0,57986,0,0 -17-43063415-A-G,17,43063415,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-42T>C,,c.5153-42T>C,intron_variant,,,,1,1388016,7.204527901695658e-7,0,0,,,4.97,,0.00,-0.0100,-0.0400,,,0,31904,0,0,0,44618,0,0,0,25746,0,0,0,39346,0,0,0,51676,0,0,0,5636,0,0,1,1046500,0,0,,,,,0,84674,0,0,0,57916,0,0 -17-43063417-C-T,17,43063417,rs765846390,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-44G>A,,c.5153-44G>A,intron_variant,,,,5,1382040,0.000003617840294058059,0,0,eas,0.00002023,0.145,,0.00,0.00,-2.53,,,1,31778,0,0,0,44588,0,0,0,25714,0,0,3,39314,0,0,0,51476,0,0,0,5630,0,0,0,1041266,0,0,,,,,0,84564,0,0,1,57710,0,0 -17-43063418-G-A,17,43063418,rs776018348,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-45C>T,,c.5153-45C>T,intron_variant,,,,3,1377202,0.0000021783296858412926,0,0,nfe,3.200000000000001e-7,0.492,,0.00,0.00,-0.307,,,0,31650,0,0,0,44586,0,0,0,25698,0,0,0,39282,0,0,0,51368,0,0,1,5612,0,0,2,1036968,0,0,,,,,0,84460,0,0,0,57578,0,0 -17-43063421-C-G,17,43063421,rs2153570843,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-48G>C,,c.5153-48G>C,intron_variant,,,,1,1354636,7.382056877271828e-7,0,0,,,2.13,,0.00,0.0100,-0.218,,,0,31222,0,0,0,44518,0,0,0,25550,0,0,0,39126,0,0,0,51066,0,0,0,5584,0,0,1,1016804,0,0,,,,,0,83950,0,0,0,56816,0,0 -17-43063422-T-C,17,43063422,rs1011741395,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-49A>G,,c.5153-49A>G,intron_variant,,,,1,1342476,7.448922736793804e-7,0,0,,,8.58,,0.00,0.00,0.562,,,0,30990,0,0,0,44500,0,0,0,25464,0,0,0,39080,0,0,0,51072,0,0,0,5572,0,0,0,1005706,0,0,,,,,0,83716,0,0,1,56376,0,0 -17-43063423-C-T,17,43063423,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-50G>A,,c.5153-50G>A,intron_variant,,,,1,624806,0.0000016004967942049212,0,0,,,6.29,,0.00,0.00,0.0780,,,0,17610,0,0,0,43662,0,0,0,20966,0,0,0,35974,0,0,0,50720,0,0,0,4146,0,0,1,349170,0,0,,,,,0,69572,0,0,0,32986,0,0 -17-43063428-C-G,17,43063428,rs1466090947,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-55G>C,,c.5153-55G>C,intron_variant,,,,2,1456564,0.0000013730944881241057,0,0,,,1.58,,0.00,-0.0100,0.0200,,,1,71630,0,0,0,59628,0,0,0,28678,0,0,0,43996,0,0,0,61066,0,0,0,5822,0,0,1,1039914,0,0,0,912,0,0,0,87648,0,0,0,57270,0,0 -17-43063430-C-T,17,43063430,rs1216136190,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-57G>A,,c.5153-57G>A,intron_variant,,,,10,1440260,0.0000069431908127699165,0,0,nfe,0.00000413,0.382,,0.00,0.00,-0.669,,,0,71268,0,0,0,59564,0,0,0,28574,0,0,1,43886,0,0,0,60792,0,0,0,5774,0,0,9,1025502,0,0,0,912,0,0,0,87232,0,0,0,56756,0,0 -17-43063430-C-G,17,43063430,rs1216136190,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-57G>C,,c.5153-57G>C,intron_variant,,,,13,1440260,0.00000902614805660089,0,0,amr,0.00010272999999999999,0.310,,0.00,0.00,-0.669,,,0,71268,0,0,11,59564,0,0,0,28574,0,0,0,43886,0,0,0,60792,0,0,0,5774,0,0,0,1025502,0,0,0,912,0,0,0,87232,0,0,2,56756,0,0 -17-43063431-G-T,17,43063431,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-58C>A,,c.5153-58C>A,intron_variant,,,,1,1276846,7.831798039857587e-7,0,0,,,5.28,,0.00,0.00,0.545,,,1,29666,0,0,0,44250,0,0,0,25018,0,0,0,38626,0,0,0,50096,0,0,0,5440,0,0,0,947256,0,0,,,,,0,82166,0,0,0,54328,0,0 -17-43063431-G-A,17,43063431,rs988193234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-58C>T,,c.5153-58C>T,intron_variant,,,,98,1429006,0.0000685791382261516,0,0,amr,0.0011828599999999996,5.82,,0.00,0.00,0.545,,,0,71092,0,0,85,59514,0,0,0,28488,0,0,2,43826,0,0,0,60714,0,0,0,5756,0,0,7,1015300,0,0,0,912,0,0,2,86986,0,0,2,56418,0,0 -17-43063432-GAGAT-G,17,43063432,,GAGAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-63_5153-60del,,c.5153-63_5153-60del,intron_variant,,,,2,1252058,0.000001597370089884015,0,0,nfe,3.5999999999999994e-7,2.58,,0.00,0.0100,0.559,,,0,29206,0,0,0,44216,0,0,0,24868,0,0,0,38508,0,0,0,49870,0,0,0,5392,0,0,2,924876,0,0,,,,,0,81672,0,0,0,53450,0,0 -17-43063433-A-C,17,43063433,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-60T>G,,c.5153-60T>G,intron_variant,,,,1,1254558,7.970934783405789e-7,0,0,,,6.63,,0.00,0.0100,2.05,,,0,29250,0,0,0,44210,0,0,0,24866,0,0,0,38550,0,0,0,49930,0,0,0,5398,0,0,0,927156,0,0,,,,,1,81662,0,0,0,53536,0,0 -17-43063434-G-T,17,43063434,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-61C>A,,c.5153-61C>A,intron_variant,,,,1,1235734,8.092356445642832e-7,0,0,,,0.790,,0.00,0.00,1.22,,,0,28870,0,0,0,44144,0,0,0,24736,0,0,0,38446,0,0,0,49746,0,0,0,5350,0,0,1,910274,0,0,,,,,0,81266,0,0,0,52902,0,0 -17-43063435-A-G,17,43063435,rs2153571539,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-62T>C,,c.5153-62T>C,intron_variant,,,,5,1388176,0.000003601848756929957,0,0,nfe,0.0000014999999999999998,0.225,,0.00,0.0100,-0.601,,,0,70418,0,0,0,59448,0,0,0,28224,0,0,0,43622,0,0,0,60362,0,0,0,5646,0,0,5,978478,0,0,0,912,0,0,0,86060,0,0,0,55006,0,0 -17-43063436-TAG-T,17,43063436,,TAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-65_5153-64del,,c.5153-65_5153-64del,intron_variant,,,,1,1228448,8.140352705202012e-7,0,0,,,6.74,,0.00,0.0100,-0.890,,,0,28696,0,0,0,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,1,903938,0,0,,,,,0,81084,0,0,0,52650,0,0 -17-43063436-T-C,17,43063436,rs774666969,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-63A>G,,c.5153-63A>G,intron_variant,,,,9,1228448,0.00000732631743468181,0,0,nfe,0.00000381,5.80,,0.00,0.00,-0.890,,,0,28696,0,0,1,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,8,903938,0,0,,,,,0,81084,0,0,0,52650,0,0 -17-43063436-TAGAG-T,17,43063436,rs749668287,TAGAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-67_5153-64del,,c.5153-67_5153-64del,intron_variant,Likely benign,1325653,,2,1228448,0.0000016280705410404023,0,0,sas,0.00000409,7.11,,0.00,0.0200,-0.890,,,0,28696,0,0,0,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,0,903938,0,0,,,,,2,81084,0,0,0,52650,0,0 -17-43063440-G-A,17,43063440,rs561146481,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-67C>T,,c.5153-67C>T,intron_variant,,,,1,152296,0.000006566160634553764,0,0,,,1.42,,0.00,0.00,-0.737,,,0,41560,0,0,1,15292,0,0,0,3472,0,0,0,5192,0,0,0,10618,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4820,0,0,0,2114,0,0 -17-43063440-G-C,17,43063440,rs561146481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-67C>G,,c.5153-67C>G,intron_variant,,,,1,616550,0.0000016219284729543427,0,0,,,1.19,,0.00,0.00,-0.737,,,0,17312,0,0,0,42866,0,0,0,20868,0,0,0,35572,0,0,0,48252,0,0,0,4140,0,0,1,345986,0,0,,,,,0,68810,0,0,0,32744,0,0 -17-43063442-G-C,17,43063442,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-69C>G,,c.5153-69C>G,intron_variant,,,,1,1157846,8.636727164061542e-7,0,0,,,7.66,,0.00,0.0100,0.632,,,0,27232,0,0,0,43388,0,0,0,24236,0,0,0,37792,0,0,0,48302,0,0,1,5212,0,0,0,842130,0,0,,,,,0,79286,0,0,0,50268,0,0 -17-43063442-G-T,17,43063442,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-69C>A,,c.5153-69C>A,intron_variant,,,,1,1157840,8.636771920127134e-7,0,0,,,7.54,,0.00,-0.0100,0.632,,,0,27230,0,0,0,43388,0,0,0,24236,0,0,0,37792,0,0,0,48302,0,0,0,5212,0,0,1,842126,0,0,,,,,0,79286,0,0,0,50268,0,0 -17-43063443-G-GAACGTGCTCTTT,17,43063443,,G,GAACGTGCTCTTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-71_5153-70insAAAGAGCACGTT,,c.5153-71_5153-70insAAAGAGCACGTT,intron_variant,,,,1,1148606,8.70620560923415e-7,0,0,,,3.78,,0.00,0.0200,0.250,,,0,27062,0,0,0,43282,0,0,0,24180,0,0,0,37736,0,0,0,48068,0,0,0,5192,0,0,1,834052,0,0,,,,,0,79046,0,0,0,49988,0,0 -17-43063443-G-T,17,43063443,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-70C>A,,c.5153-70C>A,intron_variant,,,,1,1148602,8.70623592854618e-7,0,0,,,1.64,,0.00,0.00,0.250,,,0,27062,0,0,0,43282,0,0,0,24180,0,0,0,37736,0,0,1,48066,0,0,0,5192,0,0,0,834050,0,0,,,,,0,79046,0,0,0,49988,0,0 -17-43063444-T-C,17,43063444,rs1480005282,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-71A>G,,c.5153-71A>G,intron_variant,,,,4,1126354,0.0000035512813911079464,0,0,nfe,0.0000011499999999999998,8.86,,0.00,-0.0100,-0.620,,,0,26664,0,0,0,43082,0,0,0,24018,0,0,0,37534,0,0,0,47876,0,0,0,5144,0,0,4,814380,0,0,,,,,0,78516,0,0,0,49140,0,0 -17-43063445-C-A,17,43063445,rs1290801589,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-72G>T,,c.5153-72G>T,intron_variant,,,,6,1256348,0.000004775746847211123,0,0,nfe,0.0000017,0.316,,0.00,0.00,-0.480,,,0,67654,0,0,0,58122,0,0,0,27350,0,0,0,42542,0,0,0,58196,0,0,0,5408,0,0,5,862926,0,0,0,912,0,0,0,82722,0,0,1,50516,0,0 -17-43063446-A-T,17,43063446,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-73T>A,,c.5153-73T>A,intron_variant,,,,8,1106208,0.000007231912985622957,0,0,sas,0.00005099999999999998,8.24,,0.0100,0.0300,0.00200,,,0,26266,0,0,0,42904,0,0,0,23908,0,0,0,37366,0,0,0,47640,0,0,0,5094,0,0,0,796520,0,0,,,,,8,77972,0,0,0,48538,0,0 -17-43063446-AG-A,17,43063446,rs1567768915,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-74del,,c.5153-74del,intron_variant,,,,2,1106208,0.0000018079782464057393,0,0,nfe,4.2e-7,4.15,,0.00,-0.0200,0.00200,,,0,26266,0,0,0,42904,0,0,0,23908,0,0,0,37366,0,0,0,47640,0,0,0,5094,0,0,2,796520,0,0,,,,,0,77972,0,0,0,48538,0,0 -17-43063448-C-T,17,43063448,rs531671458,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-75G>A,,c.5153-75G>A,intron_variant,,,,12,1251028,0.000009592111447545539,0,0,afr,0.000019790000000000002,0.00900,,0.00,0.00,-12.0,,,4,67686,0,0,1,58010,0,0,0,27334,0,0,0,42448,0,0,1,57900,0,0,0,5376,0,0,6,858390,0,0,0,912,0,0,0,82606,0,0,0,50366,0,0 -17-43063799-G-A,17,43063799,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+75C>T,,c.5152+75C>T,intron_variant,,,,1,447504,0.0000022346168972791303,0,0,,,15.0,,0.00,0.00,1.84,,,0,8112,0,0,0,500,0,0,0,2784,0,0,0,1918,0,0,0,138,0,0,0,862,0,0,1,410078,0,0,,,,,0,8610,0,0,0,14502,0,0 -17-43063801-T-C,17,43063801,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+73A>G,,c.5152+73A>G,intron_variant,,,,1,1072308,9.325678816161028e-7,0,0,,,16.9,,0.00,0.00,2.21,,,0,25556,0,0,0,41244,0,0,0,23460,0,0,1,37242,0,0,0,52322,0,0,0,4840,0,0,0,764142,0,0,,,,,0,76196,0,0,0,47306,0,0 -17-43063803-T-C,17,43063803,rs2051900143,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+71A>G,,c.5152+71A>G,intron_variant,,,,1,609858,0.0000016397259689960613,0,0,,,16.5,,0.00,0.00,1.78,,,1,17236,0,0,0,41182,0,0,0,20620,0,0,0,35406,0,0,0,52356,0,0,0,4002,0,0,0,339176,0,0,,,,,0,67546,0,0,0,32334,0,0 -17-43063805-A-T,17,43063805,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+69T>A,,c.5152+69T>A,intron_variant,,,,1,543642,0.0000018394458117658313,0,0,,,16.1,,0.00,0.00,1.52,,,0,9810,0,0,0,618,0,0,0,3360,0,0,0,2314,0,0,0,180,0,0,0,1048,0,0,1,498062,0,0,,,,,0,10566,0,0,0,17684,0,0 -17-43063806-A-T,17,43063806,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+68T>A,,c.5152+68T>A,intron_variant,,,,5,1168146,0.000004280286881947976,0,0,sas,0.000024560000000000002,13.9,,0.00,0.00,1.28,,,0,27348,0,0,0,42348,0,0,0,24084,0,0,0,37932,0,0,0,52644,0,0,0,5098,0,0,0,849520,0,0,,,,,5,78690,0,0,0,50482,0,0 -17-43063808-C-T,17,43063808,rs3092994,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+66G>A,,c.5152+66G>A,intron_variant,Benign,55428,,441627,1326596,0.33290240585679437,76364,0,sas,0.49429703999999985,11.0,,0.00,0.00,-0.269,,,15924,68972,1863,0,13541,57712,1730,0,10077,27634,1825,0,15338,43214,2770,0,25134,63168,4970,0,2019,5430,398,0,299894,923046,49036,0,260,910,41,0,41721,83726,10684,0,17719,52784,3047,0 -17-43063809-G-A,17,43063809,rs273901745,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+65C>T,,c.5152+65C>T,intron_variant,Likely benign,627758,,21,1351870,0.000015534038036201705,0,0,nfe,0.00001002,16.8,,0.00,0.00,1.55,,,0,69354,0,0,0,58226,0,0,0,27800,0,0,0,43452,0,0,0,63416,0,0,3,5528,0,0,16,944946,0,0,0,912,0,0,0,84526,0,0,2,53710,0,0 -17-43063809-G-T,17,43063809,rs273901745,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+65C>A,,c.5152+65C>A,intron_variant,,,,2,1199756,0.000001667005624476977,0,0,nfe,3.7999999999999996e-7,16.5,,0.00,0.00,1.55,,,0,27930,0,0,0,42960,0,0,0,24332,0,0,0,38254,0,0,0,52814,0,0,0,5212,0,0,2,876940,0,0,,,,,0,79694,0,0,0,51620,0,0 -17-43063811-T-C,17,43063811,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+63A>G,,c.5152+63A>G,intron_variant,,,,3,1213642,0.0000024718986323808833,0,0,nfe,3.7000000000000006e-7,18.3,,0.00,-0.0100,1.16,,,0,28236,0,0,0,43242,0,0,1,24422,0,0,0,38380,0,0,0,52922,0,0,0,5244,0,0,2,889006,0,0,,,,,0,80124,0,0,0,52066,0,0 -17-43063811-T-A,17,43063811,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+63A>T,,c.5152+63A>T,intron_variant,,,,2,1213642,0.0000016479324215872555,0,0,nfe,3.7000000000000006e-7,17.7,,0.00,0.00,1.16,,,0,28236,0,0,0,43242,0,0,0,24422,0,0,0,38380,0,0,0,52922,0,0,0,5244,0,0,2,889006,0,0,,,,,0,80124,0,0,0,52066,0,0 -17-43063812-A-C,17,43063812,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+62T>G,,c.5152+62T>G,intron_variant,,,,1,1212758,8.245668138243574e-7,0,0,,,18.0,,0.00,-0.0200,0.533,,,1,28220,0,0,0,43274,0,0,0,24398,0,0,0,38386,0,0,0,52932,0,0,0,5242,0,0,0,888126,0,0,,,,,0,80140,0,0,0,52040,0,0 -17-43063812-A-G,17,43063812,rs2153579334,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+62T>C,,c.5152+62T>C,intron_variant,Likely benign,1325654,,1,1212758,8.245668138243574e-7,0,0,,,18.0,,0.00,-0.0100,0.533,,,0,28220,0,0,0,43274,0,0,0,24398,0,0,0,38386,0,0,0,52932,0,0,0,5242,0,0,1,888126,0,0,,,,,0,80140,0,0,0,52040,0,0 -17-43063814-G-C,17,43063814,rs1383295945,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5152+60C>G,,c.5152+60C>G,intron_variant,,,,1,152148,0.000006572547782422378,0,0,,,16.6,,0.00,0.00,1.99,,,1,41422,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10612,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43063816-G-T,17,43063816,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+58C>A,,c.5152+58C>A,intron_variant,,,,1,1292114,7.739255205036088e-7,0,0,,,18.0,,0.00,0.00,3.72,,,0,29840,0,0,0,43648,0,0,0,24942,0,0,0,38802,0,0,0,53030,0,0,0,5410,0,0,1,959964,0,0,,,,,0,81878,0,0,0,54600,0,0 -17-43063816-G-A,17,43063816,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+58C>T,,c.5152+58C>T,intron_variant,,,,1,1292116,7.739243225840405e-7,0,0,,,18.3,,0.00,0.00,3.72,,,0,29840,0,0,0,43648,0,0,0,24942,0,0,0,38802,0,0,0,53030,0,0,0,5410,0,0,1,959966,0,0,,,,,0,81878,0,0,0,54600,0,0 -17-43063817-TA-T,17,43063817,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+56del,,c.5152+56del,intron_variant,,,,4,1310106,0.000003053188062645313,0,0,nfe,9.6e-7,13.7,,0.00,-0.0300,0.824,,,0,30222,0,0,0,43750,0,0,0,25068,0,0,0,38896,0,0,0,53056,0,0,0,5438,0,0,4,976194,0,0,,,,,0,82258,0,0,0,55224,0,0 -17-43063817-T-C,17,43063817,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+57A>G,,c.5152+57A>G,intron_variant,,,,2,1310106,0.0000015265940313226564,0,0,,,18.1,,0.00,0.00,0.824,,,0,30222,0,0,0,43750,0,0,0,25068,0,0,1,38896,0,0,0,53056,0,0,0,5438,0,0,0,976194,0,0,,,,,0,82258,0,0,1,55224,0,0 -17-43063822-A-G,17,43063822,rs2051901075,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+52T>C,,c.5152+52T>C,intron_variant,,,,1,623346,0.0000016042454752256372,0,0,,,17.1,,0.00,0.00,1.57,,,0,17592,0,0,0,43190,0,0,0,20826,0,0,0,35950,0,0,0,52914,0,0,0,4120,0,0,0,346828,0,0,,,,,1,69036,0,0,0,32890,0,0 -17-43063823-T-C,17,43063823,rs759143469,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+51A>G,,c.5152+51A>G,intron_variant,,,,4,1486526,0.0000026908375635542197,0,0,,,17.9,,0.00,0.00,1.25,,,2,72160,0,0,0,59350,0,0,0,28710,0,0,1,44230,0,0,0,63770,0,0,0,5804,0,0,0,1065500,0,0,0,912,0,0,1,87922,0,0,0,58168,0,0 -17-43063825-C-T,17,43063825,rs2153579774,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+49G>A,,c.5152+49G>A,intron_variant,,,,1,1351386,7.399810268864706e-7,0,0,,,15.6,,0.00,0.00,1.07,,,0,31056,0,0,0,44122,0,0,0,25360,0,0,0,39104,0,0,0,53172,0,0,0,5530,0,0,1,1012904,0,0,,,,,0,83476,0,0,0,56662,0,0 -17-43063829-T-G,17,43063829,rs764977822,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+45A>C,,c.5152+45A>C,intron_variant,,,,1,1367650,7.311812232661865e-7,0,0,,,16.7,,0.00,0.00,3.23,,,0,31398,0,0,0,44338,0,0,0,25480,0,0,0,39206,0,0,0,53256,0,0,0,5584,0,0,0,1027112,0,0,,,,,1,83954,0,0,0,57322,0,0 -17-43063831-TGAGGTGTTAAAGG-T,17,43063831,,TGAGGTGTTAAAGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+30_5152+42del,,c.5152+30_5152+42del,intron_variant,,,,4,748012,0.00000534750779399261,0,0,nfe,0.0000013700000000000002,16.9,,0.00,-0.0400,0.419,,,0,13880,0,0,0,874,0,0,0,4626,0,0,0,3240,0,0,0,248,0,0,0,1458,0,0,4,684468,0,0,,,,,0,14708,0,0,0,24510,0,0 -17-43063833-A-G,17,43063833,rs752437850,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+41T>C,,c.5152+41T>C,intron_variant,,,,2,1375070,0.000001454471408728283,0,0,,,18.9,,0.00,0.00,3.48,,,0,31558,0,0,0,44438,0,0,0,25516,0,0,0,39254,0,0,0,53284,0,0,0,5602,0,0,1,1033662,0,0,,,,,1,84214,0,0,0,57542,0,0 -17-43063835-G-A,17,43063835,rs757676453,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+39C>T,,c.5152+39C>T,intron_variant,,,,14,1532468,0.000009135590433209699,0,0,afr,0.00009425999999999998,19.2,,0.00,0.00,5.58,,,12,73098,0,0,0,59780,0,0,0,29046,0,0,0,44474,0,0,0,63896,0,0,0,5928,0,0,2,1106324,0,0,0,912,0,0,0,89214,0,0,0,59796,0,0 -17-43063835-G-T,17,43063835,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+39C>A,,c.5152+39C>A,intron_variant,,,,1,1380338,7.244602408975193e-7,0,0,,,19.0,,0.00,0.00,5.58,,,0,31672,0,0,0,44518,0,0,0,25574,0,0,0,39280,0,0,0,53300,0,0,0,5612,0,0,1,1038296,0,0,,,,,0,84384,0,0,0,57702,0,0 -17-43063836-T-C,17,43063836,rs1331338493,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+38A>G,,c.5152+38A>G,intron_variant,,,,3,1536556,0.000001952418265263355,0,0,nfe,7.200000000000001e-7,20.1,,0.00,0.00,1.28,,,0,73152,0,0,0,59772,0,0,0,29068,0,0,0,44478,0,0,0,63896,0,0,0,5932,0,0,3,1110162,0,0,0,912,0,0,0,89292,0,0,0,59892,0,0 -17-43063837-G-T,17,43063837,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+37C>A,,c.5152+37C>A,intron_variant,,,,1,1406626,7.109210266268361e-7,0,0,,,18.5,,0.00,0.00,3.92,,,0,32236,0,0,0,44568,0,0,0,25724,0,0,0,39406,0,0,0,53318,0,0,0,5674,0,0,1,1062194,0,0,,,,,0,84970,0,0,0,58536,0,0 -17-43063839-TAAAG-T,17,43063839,rs779022501,TAAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+31_5152+34del,,c.5152+31_5152+34del,intron_variant,,,,7,1568836,0.000004461906789492337,0,0,eas,0.00007289999999999998,15.2,,0.00,-0.0300,2.28,,,0,74014,0,0,0,59898,0,0,0,29250,0,0,7,44660,0,0,0,63974,0,0,0,5982,0,0,0,1139070,0,0,0,912,0,0,0,90038,0,0,0,61038,0,0 -17-43063840-A-T,17,43063840,rs2051901994,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+34T>A,,c.5152+34T>A,intron_variant,,,,1,789324,0.0000012669068722096375,0,0,,,17.2,,0.00,-0.0100,0.492,,,0,14804,0,0,0,928,0,0,0,4862,0,0,0,3436,0,0,0,266,0,0,0,1542,0,0,1,722038,0,0,,,,,0,15602,0,0,0,25846,0,0 -17-43063842-A-T,17,43063842,rs2051902293,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+32T>A,,c.5152+32T>A,intron_variant,,,,1,792570,0.0000012617182078554575,0,0,,,16.7,,0.00,-0.0100,0.227,,,0,14864,0,0,0,940,0,0,0,4870,0,0,0,3468,0,0,0,268,0,0,0,1552,0,0,1,724978,0,0,,,,,0,15662,0,0,0,25968,0,0 -17-43063842-A-G,17,43063842,rs2051902293,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5152+32T>C,,c.5152+32T>C,intron_variant,,,,1,152202,0.000006570215897294385,0,0,,,16.9,,0.00,0.00,0.227,,,1,41450,0,0,0,15278,0,0,0,3472,0,0,0,5198,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43063843-G-A,17,43063843,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+31C>T,,c.5152+31C>T,intron_variant,,,,1,1421110,7.036752960713808e-7,0,0,,,13.9,,0.00,0.00,1.37,,,0,32580,0,0,0,44640,0,0,0,25814,0,0,0,39462,0,0,0,53354,0,0,0,5706,0,0,0,1075180,0,0,,,,,1,85326,0,0,0,59048,0,0 -17-43063847-G-C,17,43063847,rs1398205276,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+27C>G,,c.5152+27C>G,intron_variant,,,,2,1427550,0.0000014010017162271023,0,0,eas,0.00000838,2.92,,0.0200,-0.0100,0.580,,,0,32712,0,0,0,44658,0,0,0,25880,0,0,2,39524,0,0,0,53374,0,0,0,5706,0,0,0,1080950,0,0,,,,,0,85488,0,0,0,59258,0,0 -17-43063849-A-AG,17,43063849,,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+24dup,,c.5152+24dup,intron_variant,,,,1,803022,0.0000012452958947575533,0,0,,,4.24,,0.00,0.0100,1.60,,,0,15108,0,0,0,946,0,0,0,4948,0,0,0,3496,0,0,0,270,0,0,0,1574,0,0,1,734488,0,0,,,,,0,15878,0,0,0,26314,0,0 -17-43063852-G-A,17,43063852,rs2153580925,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+22C>T,,c.5152+22C>T,intron_variant,,,,1,1440522,6.941927995546059e-7,0,0,,,1.94,,0.00,0.00,1.26,,,0,33000,0,0,0,44688,0,0,0,25992,0,0,0,39552,0,0,0,53386,0,0,0,5734,0,0,1,1092668,0,0,,,,,0,85796,0,0,0,59706,0,0 -17-43063853-G-C,17,43063853,rs2153581002,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+21C>G,,c.5152+21C>G,intron_variant,,,,1,1441910,6.935245611723339e-7,0,0,,,9.25,,0.0200,-0.0200,2.62,,,0,33026,0,0,0,44688,0,0,0,26006,0,0,0,39562,0,0,1,53390,0,0,0,5736,0,0,0,1093936,0,0,,,,,0,85826,0,0,0,59740,0,0 -17-43063854-A-T,17,43063854,rs376836050,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+20T>A,,c.5152+20T>A,intron_variant,Benign/Likely benign,132704,,114,1596030,0.0000714272288114885,0,0,amr,0.00023414999999999997,10.1,,0.0300,-0.0200,2.74,,,0,74636,0,0,21,59980,0,0,27,29490,0,0,0,44756,0,0,0,64020,0,0,1,6030,0,0,50,1163612,0,0,0,912,0,0,0,90674,0,0,15,61920,0,0 -17-43063855-GA-G,17,43063855,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+18del,,c.5152+18del,intron_variant,,,,1,1445964,6.915801499899029e-7,0,0,,,5.68,,0.00,-0.0300,0.0540,,,0,33120,0,0,0,44702,0,0,0,26028,0,0,0,39580,0,0,0,53398,0,0,0,5746,0,0,1,1097596,0,0,,,,,0,85920,0,0,0,59874,0,0 -17-43063855-G-T,17,43063855,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+19C>A,,c.5152+19C>A,intron_variant,,,,2,1445964,0.0000013831602999798058,0,0,nfe,2.999999999999999e-7,2.43,,0.00,-0.0100,0.0540,,,0,33120,0,0,0,44702,0,0,0,26028,0,0,0,39580,0,0,0,53398,0,0,0,5746,0,0,2,1097596,0,0,,,,,0,85920,0,0,0,59874,0,0 -17-43063859-T-C,17,43063859,rs750905289,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+15A>G,,c.5152+15A>G,intron_variant,Conflicting interpretations of pathogenicity,377573,,58,1601662,0.00003621238438571933,0,0,afr,0.000034839999999999985,1.15,,0.0100,-0.0200,-0.476,,,6,74606,0,0,1,59964,0,0,0,29532,0,0,0,44790,0,0,0,64000,0,0,0,6064,0,0,50,1168876,0,0,0,912,0,0,0,90850,0,0,1,62068,0,0 -17-43063861-G-T,17,43063861,rs80358136,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+13C>A,,c.5152+13C>A,intron_variant,Uncertain significance,125767,,1,822226,0.0000012162106282214378,0,0,,,3.03,,0.0200,-0.0100,-0.725,,,0,15534,0,0,0,978,0,0,0,5088,0,0,0,3572,0,0,0,274,0,0,0,1598,0,0,1,751998,0,0,,,,,0,16264,0,0,0,26920,0,0 -17-43063862-T-TATTATACTTACAGAAATAGC,17,43063862,,T,TATTATACTTACAGAAATAGC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5144_5152+11dup,,c.5144_5152+11dup,intron_variant,,,,1,1452298,6.885639173227534e-7,0,0,,,3.77,,0.0500,-0.0900,-0.877,,,1,33260,0,0,0,44716,0,0,0,26082,0,0,0,39630,0,0,0,53406,0,0,0,5748,0,0,0,1103332,0,0,,,,,0,86060,0,0,0,60064,0,0 -17-43063862-T-C,17,43063862,rs756586490,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+12A>G,,c.5152+12A>G,intron_variant,Likely benign,2148450,,1,1452298,6.885639173227534e-7,0,0,,,0.831,,0.0200,-0.0200,-0.877,,,0,33260,0,0,0,44716,0,0,0,26082,0,0,0,39630,0,0,0,53406,0,0,0,5748,0,0,0,1103332,0,0,,,,,1,86060,0,0,0,60064,0,0 -17-43063864-T-C,17,43063864,rs80358114,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+10A>G,,c.5152+10A>G,intron_variant,Benign/Likely benign,37641,,5,780824,0.000006403491695951968,0,0,nfe,0.0000045,3.39,,0.0900,-0.120,-1.72,,,0,59148,0,0,0,59006,0,0,0,24450,0,0,0,41240,0,0,0,63746,0,0,0,4462,0,0,5,418084,0,0,0,912,0,0,0,74592,0,0,0,35184,0,0 -17-43063866-A-G,17,43063866,rs1567769120,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+8T>C,,c.5152+8T>C,splice_region_variant,Likely benign,627715,,1,1455596,6.870038114971462e-7,0,0,,,6.51,,0.0400,-0.0300,0.230,,,0,33340,0,0,0,44716,0,0,0,26110,0,0,1,39646,0,0,0,53410,0,0,0,5754,0,0,0,1106298,0,0,,,,,0,86144,0,0,0,60178,0,0 -17-43063866-A-T,17,43063866,rs1567769120,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+8T>A,,c.5152+8T>A,splice_region_variant,not provided,868724,,1,1455596,6.870038114971462e-7,0,0,,,7.10,,0.100,-0.0800,0.230,,,0,33340,0,0,0,44716,0,0,0,26110,0,0,0,39646,0,0,0,53410,0,0,0,5754,0,0,1,1106298,0,0,,,,,0,86144,0,0,0,60178,0,0 -17-43063867-T-C,17,43063867,rs80358046,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+7A>G,,c.5152+7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,96940,,1,827702,0.0000012081642910129491,0,0,,,15.6,,0.360,-0.530,0.147,,,1,15658,0,0,0,980,0,0,0,5134,0,0,0,3604,0,0,0,276,0,0,0,1602,0,0,0,756960,0,0,,,,,0,16372,0,0,0,27116,0,0 -17-43063868-A-G,17,43063868,rs80358074,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+6T>C,,c.5152+6T>C,intron_variant,Conflicting interpretations of pathogenicity,125777,,1,827506,0.0000012084504523230044,0,0,,,23.6,,0.700,-0.790,4.61,,,0,15648,0,0,0,980,0,0,0,5130,0,0,0,3608,0,0,0,276,0,0,0,1610,0,0,0,756796,0,0,,,,,0,16370,0,0,1,27088,0,0 -17-43063869-C-G,17,43063869,rs80358165,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+5G>C,,c.5152+5G>C,intron_variant,Pathogenic,220736,,1,828850,0.0000012064909211558183,0,0,,,25.7,,0.900,-0.830,8.79,,,0,15682,0,0,0,980,0,0,0,5128,0,0,0,3614,0,0,0,276,0,0,0,1614,0,0,1,758014,0,0,,,,,0,16392,0,0,0,27150,0,0 -17-43063870-T-C,17,43063870,rs397509232,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+4A>G,,c.5152+4A>G,intron_variant,Conflicting interpretations of pathogenicity,55426,,1,1457702,6.860112697931401e-7,0,0,,,24.0,,0.800,-0.790,6.28,,,0,33380,0,0,0,44718,0,0,0,26108,0,0,0,39656,0,0,0,53408,0,0,0,5762,0,0,1,1108244,0,0,,,,,0,86182,0,0,0,60244,0,0 -17-43063873-C-A,17,43063873,rs80358094,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+1G>T,,c.5152+1G>T,splice_donor_variant,Pathogenic,55423,,2,830196,0.0000024090696654765864,0,0,nfe,4.4e-7,33.0,,0.900,-0.840,8.79,,,0,15720,0,0,0,980,0,0,0,5140,0,0,0,3616,0,0,0,276,0,0,0,1614,0,0,2,759246,0,0,,,,,0,16404,0,0,0,27200,0,0 -17-43063879-T-C,17,43063879,rs587782456,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1716Cys,p.Tyr1716Cys,c.5147A>G,missense_variant,Conflicting interpretations of pathogenicity,142424,,2,1460556,0.0000013693415384278315,0,0,,,28.5,0.730,0.00,0.00,6.28,0.00,0.999,0,33464,0,0,0,44724,0,0,0,26128,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,0,1110806,0,0,,,,,1,86232,0,0,1,60344,0,0 -17-43063882-C-T,17,43063882,rs45444999,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1715Asn,p.Ser1715Asn,c.5144G>A,missense_variant,Pathogenic,55416,,2,831688,0.0000024047479343215244,0,0,nfe,4.4e-7,25.6,0.299,0.0100,0.0100,8.79,0.00,0.112,0,15770,0,0,0,984,0,0,0,5142,0,0,0,3624,0,0,0,276,0,0,0,1616,0,0,2,760616,0,0,,,,,0,16418,0,0,0,27242,0,0 -17-43063885-A-C,17,43063885,rs80357243,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1714Gly,p.Val1714Gly,c.5141T>G,missense_variant,Pathogenic/Likely pathogenic,55413,,1,831996,0.0000012019288554271895,0,0,,,33.0,0.856,0.950,0.820,6.26,0.00,0.00600,0,15768,0,0,0,982,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,760888,0,0,,,,,0,16430,0,0,0,27262,0,0 -17-43063887-T-C,17,43063887,rs1555578550,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Val,p.Val1713Val,c.5139A>G,synonymous_variant,Likely benign,481472,,3,832484,0.0000036036728633823594,0,0,nfe,0.00000105,9.85,,0.0100,0.00,3.79,,,0,15774,0,0,0,982,0,0,0,5150,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,3,761324,0,0,,,,,0,16454,0,0,0,27278,0,0 -17-43063888-A-C,17,43063888,rs80357132,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Gly,p.Val1713Gly,c.5138T>G,missense_variant,Pathogenic,868702,,1,1461224,6.843577712931077e-7,0,0,,,28.5,0.756,0.0300,0.0100,6.26,0.00,0.0400,0,33468,0,0,0,44724,0,0,0,26130,0,0,0,39676,0,0,0,53416,0,0,0,5768,0,0,1,1111430,0,0,,,,,0,86240,0,0,0,60372,0,0 -17-43063888-AC-A,17,43063888,rs80357997,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Ter,p.Val1713Ter,c.5137del,frameshift_variant,Pathogenic,55411,,1,1461224,6.843577712931077e-7,0,0,,,32.0,,0.00,-0.100,6.26,,,0,33468,0,0,0,44724,0,0,0,26130,0,0,0,39676,0,0,0,53416,0,0,0,5768,0,0,1,1111430,0,0,,,,,0,86240,0,0,0,60372,0,0 -17-43063890-C-T,17,43063890,rs80357418,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1712Ter,p.Trp1712Ter,c.5136G>A,stop_gained,Pathogenic,55410,,2,628722,0.0000031810561742709815,0,0,,,45.0,,0.00,-0.0500,8.79,,,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43063895-T-G,17,43063895,rs886040272,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1711Gln,p.Lys1711Gln,c.5131A>C,missense_variant,Conflicting interpretations of pathogenicity,409313,,1,152210,0.000006569870573549701,0,0,,,25.2,0.654,0.00,0.00,4.67,,,0,41452,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43063897-C-T,17,43063897,rs398122691,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1710Glu,p.Gly1710Glu,c.5129G>A,missense_variant,Conflicting interpretations of pathogenicity,91638,,3,780842,0.00000384200644944816,0,0,,,25.4,0.832,0.00,0.00,8.79,0.0700,0.0380,0,59118,0,0,1,58992,0,0,0,24450,0,0,0,41246,0,0,0,63750,0,0,0,4464,0,0,2,418106,0,0,0,910,0,0,0,74620,0,0,0,35186,0,0 -17-43063898-C-T,17,43063898,rs397509229,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1710Arg,p.Gly1710Arg,c.5128G>A,missense_variant,Uncertain significance,801083,,20,1614004,0.000012391543019719902,0,0,sas,0.00010969999999999998,23.7,0.668,0.00,0.00,6.97,0.290,0.484,0,75012,0,0,0,60010,0,0,0,29604,0,0,0,44870,0,0,0,64028,0,0,0,6062,0,0,2,1179924,0,0,0,912,0,0,16,91082,0,0,2,62500,0,0 -17-43063900-C-T,17,43063900,rs786204269,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1709Glu,p.Gly1709Glu,c.5126G>A,missense_variant,Uncertain significance,188417,,1,628724,0.0000015905230275923935,0,0,,,25.4,0.784,0.00,0.00,7.01,0.00,0.969,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43063901-C-T,17,43063901,rs886038197,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1709Arg,p.Gly1709Arg,c.5125G>A,missense_variant,Uncertain significance,254642,,1,628728,0.0000015905129086027663,0,0,,,25.3,0.781,0.0900,0.00,5.87,0.00,0.263,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53140,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43063902-C-T,17,43063902,rs1057520432,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1708Ala,p.Ala1708Ala,c.5124G>A,synonymous_variant,Likely benign,378958,,13,1613796,0.000008055541096892048,0,0,afr,0.00001747,8.59,,0.100,0.00,0.967,,,4,74884,0,0,0,59988,0,0,0,29604,0,0,0,44872,0,0,0,63992,0,0,0,6084,0,0,8,1179912,0,0,0,912,0,0,0,91074,0,0,1,62474,0,0 -17-43063903-G-A,17,43063903,rs28897696,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1708Val,p.Ala1708Val,c.5123C>T,missense_variant,Uncertain significance,37640,,32,1613780,0.000019829220835553792,0,0,afr,0.00019869999999999998,28.2,0.789,0.110,-0.130,8.69,0.00,0.466,22,74888,0,0,0,59976,0,0,0,29600,0,0,1,44876,0,0,0,64012,0,0,0,6084,0,0,7,1179882,0,0,0,912,0,0,0,91072,0,0,2,62478,0,0 -17-43063903-G-C,17,43063903,rs28897696,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Gly,p.Ala1708Gly,c.5123C>G,missense_variant,Uncertain significance,867673,,2,1461684,0.0000013682848002714677,0,0,,,32.0,0.789,0.340,-0.420,8.69,0.00,0.00300,0,33474,0,0,0,44724,0,0,0,26130,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,0,1111860,0,0,,,,,1,86250,0,0,1,60388,0,0 -17-43063903-G-T,17,43063903,rs28897696,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Glu,p.Ala1708Glu,c.5123C>A,missense_variant,Pathogenic,55407,,7,1461684,0.000004788996800950137,0,0,amr,0.000007410000000000001,27.7,0.831,0.150,-0.160,8.69,0.00,0.633,0,33474,0,0,2,44724,0,0,0,26130,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,5,1111860,0,0,,,,,0,86250,0,0,0,60388,0,0 -17-43063904-C-T,17,43063904,rs397507243,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Thr,p.Ala1708Thr,c.5122G>A,missense_variant,Uncertain significance,37639,,4,628724,0.000006362092110369574,0,0,sas,0.000019370000000000003,25.6,0.734,0.0100,-0.0300,8.79,0.00,0.244,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,0,350084,0,0,,,,,4,69794,0,0,0,33096,0,0 -17-43063907-T-G,17,43063907,rs1597820147,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1707Leu,p.Ile1707Leu,c.5119A>C,missense_variant,Uncertain significance,825461,,1,833068,0.000001200382201693019,0,0,,,25.5,0.564,0.0300,0.00,3.67,0.0100,0.0980,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761866,0,0,,,,,0,16460,0,0,0,27294,0,0 -17-43063909-C-G,17,43063909,rs80356860,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1706Ala,p.Gly1706Ala,c.5117G>C,missense_variant,Benign,55406,,75,1614060,0.000046466674101334525,0,0,nfe,0.0000315,25.3,0.518,0.0400,-0.0100,8.79,0.00,0.353,0,75038,0,0,4,59998,0,0,0,29604,0,0,0,44864,0,0,8,64028,0,0,4,6062,0,0,48,1179976,0,0,0,912,0,0,0,91072,0,0,11,62506,0,0 -17-43063909-C-T,17,43063909,rs80356860,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1706Glu,p.Gly1706Glu,c.5117G>A,missense_variant,Pathogenic,37638,,2,1613942,0.0000012392019044054866,0,0,,,25.8,0.863,0.0200,-0.0100,8.79,0.00,0.319,0,74916,0,0,0,59978,0,0,0,29604,0,0,0,44876,0,0,0,64028,0,0,0,6084,0,0,2,1179984,0,0,0,912,0,0,0,91076,0,0,0,62484,0,0 -17-43063911-T-G,17,43063911,rs772885662,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5115A>C,synonymous_variant,Likely benign,427358,,2,781028,0.0000025607276563708343,0,0,,,8.13,,0.150,0.00,2.78,,,0,59256,0,0,0,59038,0,0,0,24448,0,0,0,41236,0,0,0,63756,0,0,0,4442,0,0,0,418114,0,0,0,912,0,0,2,74616,0,0,0,35210,0,0 -17-43063911-T-C,17,43063911,rs772885662,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5115A>G,synonymous_variant,not provided,868670,,1,628738,0.0000015904876116919926,0,0,,,8.04,,0.0500,-0.0100,2.78,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53144,0,0,0,4148,0,0,0,350092,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43063913-G-A,17,43063913,rs80356858,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5113C>T,synonymous_variant,Likely benign,55405,,1,833078,0.0000012003677926916808,0,0,,,10.5,,0.120,-0.100,4.04,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43063914-A-G,17,43063914,rs2051921852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1704Phe,p.Phe1704Phe,c.5112T>C,synonymous_variant,not provided,864968,,2,628738,0.000003180975223383985,0,0,nfe,9.5e-7,9.26,,0.0600,0.00,0.243,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53144,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43063916-A-G,17,43063916,rs1555578599,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1704Leu,p.Phe1704Leu,c.5110T>C,missense_variant,Uncertain significance,440479,,2,833082,0.0000024007240583760064,0,0,nfe,4.4e-7,27.3,0.631,0.0800,0.00,6.26,0.00,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761878,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43063917-A-G,17,43063917,rs80356974,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1703Tyr,p.Tyr1703Tyr,c.5109T>C,synonymous_variant,Likely benign,240815,,1,833096,0.0000012003418573609765,0,0,,,6.04,,0.0400,0.00,1.46,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43063920-T-C,17,43063920,rs1060504574,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1702Lys,p.Lys1702Lys,c.5106A>G,synonymous_variant,Conflicting interpretations of pathogenicity,415579,,4,833090,0.000004801402009386741,0,0,nfe,0.0000012299999999999999,6.78,,0.0400,0.00,0.00400,,,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43063923-C-T,17,43063923,rs1060504591,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1701Leu,p.Leu1701Leu,c.5103G>A,synonymous_variant,Likely benign,415605,,7,1461820,0.000004788551258020824,0,0,nfe,0.0000026200000000000003,12.2,,0.130,-0.140,4.97,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53416,0,0,0,5768,0,0,7,1111974,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43063925-G-T,17,43063925,rs910555398,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1701Met,p.Leu1701Met,c.5101C>A,missense_variant,Conflicting interpretations of pathogenicity,409300,,1,152118,0.00000657384398953444,0,0,,,24.3,0.563,0.0100,-0.0100,4.85,,,1,41430,0,0,0,15262,0,0,0,3470,0,0,0,5188,0,0,0,10602,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43063925-G-C,17,43063925,rs910555398,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1701Val,p.Leu1701Val,c.5101C>G,missense_variant,not provided,864951,,4,833100,0.000004801344376425399,0,0,nfe,0.0000012299999999999999,24.2,0.584,0.0100,-0.0500,4.85,0.00,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43063926-T-C,17,43063926,rs45519437,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1700Thr,p.Thr1700Thr,c.5100A>G,synonymous_variant,Likely benign,184204,,33,1613968,0.00002044650203721511,0,0,nfe,0.00001567,6.42,,0.0100,0.00,-2.00,,,0,74914,0,0,2,59994,0,0,0,29604,0,0,0,44866,0,0,0,64026,0,0,1,6084,0,0,27,1180000,0,0,0,912,0,0,2,91084,0,0,1,62484,0,0 -17-43063930-C-T,17,43063930,rs41293459,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Gln,p.Arg1699Gln,c.5096G>A,missense_variant,Pathogenic,37636,,30,1613816,0.00001858947984156806,0,0,eas,0.00001774,31.0,0.785,0.150,-0.240,8.79,0.00,0.390,0,74854,0,0,0,59980,0,0,0,29598,0,0,3,44856,0,0,0,64006,0,0,0,6084,0,0,25,1179960,0,0,0,912,0,0,1,91080,0,0,1,62486,0,0 -17-43063931-G-T,17,43063931,rs55770810,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Arg,p.Arg1699Arg,c.5095C>A,synonymous_variant,Likely benign,55395,,10,1613828,0.000006196447205030523,0,0,afr,0.00007231999999999999,12.5,,0.130,-0.210,8.69,,,10,74880,0,0,0,59980,0,0,0,29604,0,0,0,44864,0,0,0,64014,0,0,0,6084,0,0,0,1179932,0,0,0,912,0,0,0,91076,0,0,0,62482,0,0 -17-43063931-G-A,17,43063931,rs55770810,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Trp,p.Arg1699Trp,c.5095C>T,missense_variant,Pathogenic,55396,,13,1613828,0.000008055381366539681,0,0,nfe,0.00000247,32.0,0.817,0.140,-0.200,8.69,0.00,0.886,0,74880,0,0,0,59980,0,0,0,29604,0,0,1,44864,0,0,3,64014,0,0,1,6084,0,0,7,1179932,0,0,0,912,0,0,1,91076,0,0,0,62482,0,0 -17-43063932-T-C,17,43063932,rs764891781,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1698Glu,p.Glu1698Glu,c.5094A>G,synonymous_variant,Likely benign,184426,,4,628722,0.000006362112348541963,0,0,nfe,0.0000036699999999999996,9.22,,0.0200,-0.0200,0.283,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36048,0,0,0,53142,0,0,0,4148,0,0,4,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43063936-C-G,17,43063936,rs397507241,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1697Ser,p.Cys1697Ser,c.5090G>C,missense_variant,Uncertain significance,867630,,1,628726,0.0000015905179680814854,0,0,,,26.1,0.891,0.00,0.0100,8.79,0.00,0.650,0,17694,0,0,1,43740,0,0,0,20978,0,0,0,36050,0,0,0,53140,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43063938-C-T,17,43063938,rs878854956,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1696Val,p.Val1696Val,c.5088G>A,synonymous_variant,Likely benign,240814,,2,1461794,0.0000013681818368388433,0,0,nfe,2.999999999999999e-7,7.67,,0.0400,-0.0400,-0.283,,,0,33476,0,0,0,44722,0,0,0,26130,0,0,0,39680,0,0,0,53414,0,0,0,5768,0,0,2,1111962,0,0,,,,,0,86248,0,0,0,60394,0,0 -17-43063940-CAA-C,17,43063940,rs80357760,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1695CysfsTer3,p.Phe1695CysfsTer3,c.5084_5085del,frameshift_variant,Pathogenic,55388,,1,1461774,6.841002781551731e-7,0,0,,,33.0,,0.0300,-0.0800,8.79,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39678,0,0,0,53418,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43063940-C-G,17,43063940,rs80357125,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1696Leu,p.Val1696Leu,c.5086G>C,missense_variant,Uncertain significance,55390,,4,1461774,0.0000027364011126206926,0,0,nfe,8.4e-7,25.6,0.630,0.00,0.00,8.79,0.00,0.238,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39678,0,0,0,53418,0,0,0,5768,0,0,4,1111934,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43063943-A-G,17,43063943,rs2051934276,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1695Leu,p.Phe1695Leu,c.5083T>C,missense_variant,Uncertain significance,868624,,2,833056,0.0000024007989859025085,0,0,nfe,4.4e-7,18.9,0.511,0.00,0.00,0.802,0.570,0.0850,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761852,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43063946-C-A,17,43063946,rs80356896,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1694Ter,p.Glu1694Ter,c.5080G>T,stop_gained,Pathogenic,55387,,3,1461734,0.0000020523569951851703,0,0,nfe,7.200000000000001e-7,47.0,,0.400,-0.650,5.83,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53410,0,0,0,5766,0,0,3,1111906,0,0,,,,,0,86250,0,0,0,60386,0,0 -17-43063947-A-G,17,43063947,rs2051936328,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1693Ala,p.Ala1693Ala,c.5079T>C,synonymous_variant,not provided,867623,,1,832990,0.000001200494603776756,0,0,,,7.34,,0.00,0.00,-0.864,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761792,0,0,,,,,0,16460,0,0,0,27290,0,0 -17-43063948-G-C,17,43063948,rs1567769586,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1693Gly,p.Ala1693Gly,c.5078C>G,missense_variant,not provided,867621,,1,832982,0.0000012005061333858355,0,0,,,25.8,0.631,0.310,-0.270,2.29,0.0500,0.0270,0,15786,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761788,0,0,,,,,0,16460,0,0,0,27290,0,0 -17-43063954-G-A,17,43063954,rs398122690,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5075-3C>T,,c.5075-3C>T,splice_region_variant,Conflicting interpretations of pathogenicity,384512,,1,152148,0.000006572547782422378,0,0,,,12.5,,0.250,-0.280,1.20,,,0,41428,0,0,1,15272,0,0,0,3472,0,0,0,5194,0,0,0,10612,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43063955-C-A,17,43063955,rs397509220,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-4G>T,,c.5075-4G>T,splice_region_variant,Likely benign,825418,,2,1461548,0.000001368412121941941,0,0,nfe,2.999999999999999e-7,8.09,,0.190,-0.170,-0.00100,,,0,33474,0,0,0,44724,0,0,0,26128,0,0,0,39680,0,0,0,53398,0,0,0,5768,0,0,2,1111764,0,0,,,,,0,86232,0,0,0,60380,0,0 -17-43063956-A-G,17,43063956,rs775235695,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-5T>C,,c.5075-5T>C,splice_region_variant,Likely benign,868608,,1,628664,0.0000015906748278889837,0,0,,,9.02,,0.00,0.00,0.313,,,0,17694,0,0,1,43738,0,0,0,20978,0,0,0,36048,0,0,0,53126,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69778,0,0,0,33090,0,0 -17-43063957-G-T,17,43063957,rs397507240,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-6C>A,,c.5075-6C>A,splice_region_variant,Conflicting interpretations of pathogenicity,37634,,35,1613610,0.00002169049522499241,0,0,nfe,0.00001995,11.2,,0.240,-0.280,1.82,,,1,74914,0,0,0,59986,0,0,0,29596,0,0,0,44872,0,0,0,64008,0,0,0,6084,0,0,33,1179702,0,0,0,912,0,0,0,91060,0,0,1,62476,0,0 -17-43063958-A-C,17,43063958,rs762729313,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-7T>G,,c.5075-7T>G,splice_region_variant,not provided,867613,,1,832572,0.0000012010973225138486,0,0,,,12.6,,0.340,-0.470,0.792,,,0,15770,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761416,0,0,,,,,0,16450,0,0,0,27282,0,0 -17-43063960-T-A,17,43063960,rs80358059,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-9A>T,,c.5075-9A>T,intron_variant,Benign/Likely benign,125761,,5,780788,0.000006403786943446877,0,0,nfe,0.0000032400000000000003,7.83,,0.00,0.00,-0.869,,,0,59146,0,0,0,59000,0,0,0,24450,0,0,0,41240,0,0,0,63724,0,0,0,4464,0,0,4,418066,0,0,0,912,0,0,0,74604,0,0,1,35182,0,0 -17-43063960-T-C,17,43063960,rs80358059,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-9A>G,,c.5075-9A>G,intron_variant,Likely benign,240812,,2,628634,0.0000031815014778074364,0,0,eas,0.00000919,9.43,,0.00,0.00,-0.869,,,0,17694,0,0,0,43736,0,0,0,20978,0,0,2,36044,0,0,0,53118,0,0,0,4148,0,0,0,350048,0,0,,,,,0,69780,0,0,0,33088,0,0 -17-43063961-G-A,17,43063961,rs2051940421,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-10C>T,,c.5075-10C>T,intron_variant,not provided,864916,,3,832304,0.00000360445221938138,0,0,nfe,0.00000105,14.7,,0.00,0.00,2.35,,,0,15774,0,0,0,984,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,3,761166,0,0,,,,,0,16434,0,0,0,27280,0,0 -17-43063965-A-C,17,43063965,rs1363650349,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-14T>G,,c.5075-14T>G,intron_variant,Likely benign,1548084,,2,628606,0.0000031816431914426525,1,0,sas,0.00000476,10.5,,0.0200,-0.0800,1.83,,,0,17694,0,0,0,43736,0,0,0,20972,0,0,0,36044,0,0,0,53122,0,0,0,4148,0,0,0,350030,0,0,,,,,2,69774,1,0,0,33086,0,0 -17-43063967-C-T,17,43063967,rs2153610661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-16G>A,,c.5075-16G>A,intron_variant,,,,1,628550,0.0000015909633282952827,0,0,,,8.27,,0.00,-0.0100,0.984,,,0,17692,0,0,0,43732,0,0,0,20964,0,0,0,36042,0,0,0,53112,0,0,0,4148,0,0,0,350004,0,0,,,,,1,69772,0,0,0,33084,0,0 -17-43063968-A-T,17,43063968,rs1255322495,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-17T>A,,c.5075-17T>A,intron_variant,,,,1,628528,0.0000015910190158592776,0,0,,,20.2,,0.490,-0.600,3.46,,,0,17692,0,0,0,43730,0,0,0,20968,0,0,1,36044,0,0,0,53108,0,0,0,4148,0,0,0,349980,0,0,,,,,0,69770,0,0,0,33088,0,0 -17-43063969-C-T,17,43063969,rs1060504564,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-18G>A,,c.5075-18G>A,intron_variant,Conflicting interpretations of pathogenicity,415565,,5,1612120,0.0000031015060913579634,0,0,afr,0.00001747,0.381,,0.00,0.00,-0.387,,,4,74890,0,0,0,59978,0,0,0,29582,0,0,0,44846,0,0,0,63992,0,0,0,6084,0,0,0,1178402,0,0,0,912,0,0,1,91018,0,0,0,62416,0,0 -17-43063970-T-A,17,43063970,rs1555578694,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-19A>T,,c.5075-19A>T,intron_variant,,,,1,831108,0.0000012032130601558402,0,0,,,0.939,,0.00,0.00,-0.0130,,,0,15744,0,0,0,982,0,0,0,5140,0,0,0,3610,0,0,0,276,0,0,0,1620,0,0,1,760068,0,0,,,,,0,16424,0,0,0,27244,0,0 -17-43063971-C-CA,17,43063971,,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-21dup,,c.5075-21dup,intron_variant,,,,1,1459438,6.851952600932688e-7,0,0,,,4.29,,0.0700,-0.0800,0.0270,,,0,33436,0,0,0,44708,0,0,0,26100,0,0,0,39646,0,0,0,53368,0,0,0,5768,0,0,1,1109930,0,0,,,,,0,86160,0,0,0,60322,0,0 -17-43063971-C-T,17,43063971,rs2153610878,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-20G>A,,c.5075-20G>A,intron_variant,Likely benign,1584081,,2,1459438,0.0000013703905201865376,0,0,sas,0.00000385,5.15,,0.0500,0.0500,0.0270,,,0,33436,0,0,0,44708,0,0,0,26100,0,0,0,39646,0,0,0,53368,0,0,0,5768,0,0,0,1109930,0,0,,,,,2,86160,0,0,0,60322,0,0 -17-43063974-AG-A,17,43063974,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-24del,,c.5075-24del,intron_variant,,,,1,1458490,6.856406283210718e-7,0,0,,,4.57,,0.00,0.0100,2.70,,,0,33414,0,0,0,44708,0,0,0,26094,0,0,0,39646,0,0,0,53366,0,0,0,5766,0,0,1,1109064,0,0,,,,,0,86154,0,0,0,60278,0,0 -17-43063974-A-C,17,43063974,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-23T>G,,c.5075-23T>G,intron_variant,,,,2,1458490,0.0000013712812566421436,0,0,nfe,2.999999999999999e-7,12.1,,0.00,-0.0300,2.70,,,0,33414,0,0,0,44708,0,0,0,26094,0,0,0,39646,0,0,0,53366,0,0,0,5766,0,0,2,1109064,0,0,,,,,0,86154,0,0,0,60278,0,0 -17-43063975-G-A,17,43063975,rs1029023839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-24C>T,,c.5075-24C>T,intron_variant,,,,2,982082,0.000002036489824678591,0,0,,,6.80,,0.00,0.00,0.166,,,1,57132,0,0,1,16228,0,0,0,8608,0,0,0,8804,0,0,0,10884,0,0,0,1930,0,0,0,827096,0,0,0,910,0,0,0,21224,0,0,0,29266,0,0 -17-43063976-G-A,17,43063976,rs2153611056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-25C>T,,c.5075-25C>T,intron_variant,,,,1,1457588,6.860649236958592e-7,0,0,,,12.3,,0.00,0.00,2.69,,,0,33396,0,0,0,44698,0,0,0,26086,0,0,0,39640,0,0,0,53358,0,0,0,5760,0,0,1,1108272,0,0,,,,,0,86132,0,0,0,60246,0,0 -17-43063978-T-G,17,43063978,rs750770955,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-27A>C,,c.5075-27A>C,intron_variant,,,,10,780378,0.000012814302812226895,0,0,,,21.2,,0.280,-0.390,2.19,,,0,59126,0,0,0,58972,0,0,0,24430,0,0,0,41218,0,0,9,63702,0,0,0,4462,0,0,0,417836,0,0,0,912,0,0,0,74560,0,0,1,35160,0,0 -17-43063978-T-C,17,43063978,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-27A>G,,c.5075-27A>G,intron_variant,,,,1,628228,0.0000015917787809521384,0,0,,,22.5,,0.360,-0.540,2.19,,,0,17692,0,0,0,43706,0,0,0,20958,0,0,1,36028,0,0,0,53082,0,0,0,4148,0,0,0,349812,0,0,,,,,0,69734,0,0,0,33068,0,0 -17-43063983-A-G,17,43063983,rs761163190,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-32T>C,,c.5075-32T>C,intron_variant,,,,3,627850,0.000004778211356215657,0,0,,,15.5,,0.0100,0.0100,0.877,,,0,17686,0,0,0,43666,0,0,0,20948,0,0,0,36024,0,0,0,53044,0,0,3,4148,0,0,0,349584,0,0,,,,,0,69690,0,0,0,33060,0,0 -17-43063984-GT-G,17,43063984,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-34del,,c.5075-34del,intron_variant,,,,1,1449556,6.898664142675413e-7,0,0,,,1.17,,0.0300,-0.0200,-0.0640,,,0,33204,0,0,0,44626,0,0,0,26034,0,0,1,39602,0,0,0,53302,0,0,0,5750,0,0,0,1101178,0,0,,,,,0,85920,0,0,0,59940,0,0 -17-43063985-T-C,17,43063985,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-34A>G,,c.5075-34A>G,intron_variant,,,,2,1449780,0.000001379519651257432,0,0,nfe,2.999999999999999e-7,5.31,,0.0100,0.0200,-1.76,,,0,33184,0,0,0,44618,0,0,0,26030,0,0,0,39602,0,0,0,53316,0,0,0,5748,0,0,2,1101454,0,0,,,,,0,85892,0,0,0,59936,0,0 -17-43063986-T-G,17,43063986,rs754413406,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-35A>C,,c.5075-35A>C,intron_variant,,,,31,1600282,0.000019371585758010152,1,0,sas,0.00023804,9.07,,0.0100,-0.0100,-0.0370,,,0,74592,0,0,0,59888,0,0,0,29496,0,0,0,44796,0,0,0,63934,0,0,0,6066,0,0,0,1167956,0,0,0,912,0,0,30,90666,1,0,1,61976,0,0 -17-43063987-GA-G,17,43063987,rs779688885,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-37del,,c.5075-37del,intron_variant,,,,2,1444880,0.0000013841979956813023,0,0,sas,0.00000387,10.4,,0.0200,0.0100,2.08,,,0,33084,0,0,0,44592,0,0,0,26008,0,0,0,39566,0,0,0,53290,0,0,0,5744,0,0,0,1097072,0,0,,,,,2,85748,0,0,0,59776,0,0 -17-43063993-A-G,17,43063993,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-42T>C,,c.5075-42T>C,intron_variant,,,,1,626164,0.0000015970256993375537,0,0,,,6.49,,0.0100,-0.0100,0.723,,,1,17654,0,0,0,43492,0,0,0,20906,0,0,0,35966,0,0,0,52954,0,0,0,4148,0,0,0,348634,0,0,,,,,0,69446,0,0,0,32964,0,0 -17-43063994-A-T,17,43063994,rs754999111,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-43T>A,,c.5075-43T>A,intron_variant,Likely benign,2576272,,2,778474,0.0000025691288341036437,0,0,,,0.774,,0.00,-0.0100,-0.664,,,0,59108,0,0,0,58770,0,0,0,24374,0,0,0,41174,0,0,0,63574,0,0,0,4464,0,0,2,416714,0,0,0,912,0,0,0,74312,0,0,0,35072,0,0 -17-43063997-T-G,17,43063997,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-46A>C,,c.5075-46A>C,intron_variant,,,,1,1408106,7.101738079377547e-7,0,0,,,8.58,,0.00,0.00,0.228,,,0,32280,0,0,0,44290,0,0,0,25714,0,0,0,39356,0,0,0,53158,0,0,0,5680,0,0,0,1064338,0,0,,,,,0,84758,0,0,1,58532,0,0 -17-43063999-A-C,17,43063999,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-48T>G,,c.5075-48T>G,intron_variant,,,,2,624642,0.0000032018340105212267,0,0,amr,0.00000766,10.4,,0.00,-0.0100,0.479,,,0,17606,0,0,2,43302,0,0,0,20856,0,0,0,35912,0,0,0,52866,0,0,0,4146,0,0,0,347778,0,0,,,,,0,69262,0,0,0,32914,0,0 -17-43064000-G-A,17,43064000,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-49C>T,,c.5075-49C>T,intron_variant,,,,2,771398,0.000002592695340148665,0,0,nfe,4.6999999999999995e-7,5.99,,0.00,0.00,1.21,,,0,14398,0,0,0,924,0,0,0,4780,0,0,0,3384,0,0,0,256,0,0,0,1510,0,0,2,705820,0,0,,,,,0,15176,0,0,0,25150,0,0 -17-43064004-G-A,17,43064004,rs8176258,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-53C>T,,c.5075-53C>T,intron_variant,Benign,125760,,35734,1533560,0.023301338063068937,535,0,nfe,0.02651417,4.37,,0.00,0.00,1.24,,,286,73270,1,0,862,59158,6,0,547,29008,6,0,4,44326,0,0,2067,63562,41,0,12,5920,0,0,29686,1108940,433,0,26,912,0,0,1014,88734,26,0,1230,59730,22,0 -17-43064004-G-T,17,43064004,rs8176258,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-53C>A,,c.5075-53C>A,intron_variant,,,,1,1381490,7.238561263563254e-7,0,0,,,3.79,,0.00,0.00,1.24,,,0,31714,0,0,0,43876,0,0,0,25540,0,0,0,39142,0,0,0,52950,0,0,0,5626,0,0,1,1041120,0,0,,,,,0,83900,0,0,0,57622,0,0 -17-43064005-T-C,17,43064005,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-54A>G,,c.5075-54A>G,intron_variant,,,,2,1377026,0.000001452405401205206,0,0,nfe,3.200000000000001e-7,7.46,,0.00,0.00,-0.0870,,,0,31690,0,0,0,43764,0,0,0,25504,0,0,0,39132,0,0,0,52942,0,0,0,5618,0,0,2,1037172,0,0,,,,,0,83740,0,0,0,57464,0,0 -17-43064006-GCT-G,17,43064006,,GCT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-57_5075-56del,,c.5075-57_5075-56del,intron_variant,,,,1,1361990,7.342197813493491e-7,0,0,,,7.36,,0.0100,-0.0100,0.0280,,,0,31354,0,0,0,43578,0,0,0,25412,0,0,1,39006,0,0,0,52848,0,0,0,5594,0,0,0,1023948,0,0,,,,,0,83336,0,0,0,56914,0,0 -17-43064007-C-G,17,43064007,rs2051943587,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-56G>C,,c.5075-56G>C,intron_variant,,,,1,1362058,7.341831258287092e-7,0,0,,,5.98,,0.00,-0.0200,0.698,,,0,31320,0,0,1,43554,0,0,0,25416,0,0,0,38966,0,0,0,52808,0,0,0,5590,0,0,0,1024206,0,0,,,,,0,83282,0,0,0,56916,0,0 -17-43064007-C-T,17,43064007,rs2051943587,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-56G>A,,c.5075-56G>A,intron_variant,,,,1,1362056,7.341842038800167e-7,0,0,,,6.44,,0.00,-0.0100,0.698,,,1,31320,0,0,0,43554,0,0,0,25416,0,0,0,38966,0,0,0,52808,0,0,0,5590,0,0,0,1024204,0,0,,,,,0,83282,0,0,0,56916,0,0 -17-43064009-G-C,17,43064009,rs2051943729,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-58C>G,,c.5075-58C>G,intron_variant,,,,3,1339522,0.0000022396048739774336,0,0,eas,0.00002051,6.25,,0.00,0.00,0.416,,,0,30890,0,0,0,43134,0,0,0,25260,0,0,3,38776,0,0,0,52714,0,0,0,5540,0,0,0,1004336,0,0,,,,,0,82676,0,0,0,56196,0,0 -17-43064011-C-T,17,43064011,rs2153612407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-60G>A,,c.5075-60G>A,intron_variant,,,,1,711934,0.0000014046245859869033,0,0,,,2.61,,0.00,0.00,0.122,,,0,13250,0,0,0,852,0,0,0,4450,0,0,0,3094,0,0,0,250,0,0,0,1394,0,0,1,651396,0,0,,,,,0,14012,0,0,0,23236,0,0 -17-43064015-A-G,17,43064015,rs931213543,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-64T>C,,c.5075-64T>C,intron_variant,,,,1,1268330,7.884383401796062e-7,0,0,,,7.38,,0.00,-0.0200,-0.116,,,0,29332,0,0,0,41928,0,0,0,24738,0,0,0,38168,0,0,0,52286,0,0,0,5418,0,0,1,941964,0,0,,,,,0,80728,0,0,0,53768,0,0 -17-43064018-A-G,17,43064018,rs1567769677,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-67T>C,,c.5075-67T>C,intron_variant,Likely benign,628133,,1,1237304,8.082088152951902e-7,0,0,,,13.0,,0.00,-0.0100,0.153,,,0,28678,0,0,0,41520,0,0,0,24514,0,0,0,37912,0,0,0,52124,0,0,0,5372,0,0,1,914498,0,0,,,,,0,79926,0,0,0,52760,0,0 -17-43064021-T-A,17,43064021,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-70A>T,,c.5075-70A>T,intron_variant,,,,1,613290,0.000001630549984509775,0,0,,,8.67,,0.0100,-0.0200,0.204,,,0,11260,0,0,0,712,0,0,0,3786,0,0,0,2638,0,0,0,224,0,0,0,1200,0,0,1,561392,0,0,,,,,0,12116,0,0,0,19962,0,0 -17-43064025-G-A,17,43064025,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-74C>T,,c.5075-74C>T,intron_variant,,,,2,602224,0.0000033210234065729695,0,0,nfe,9.9e-7,3.05,,0.00,0.00,-0.410,,,0,16932,0,0,0,39594,0,0,0,20564,0,0,0,34826,0,0,0,51462,0,0,0,4112,0,0,2,335858,0,0,,,,,0,66858,0,0,0,32018,0,0 -17-43067533-C-A,17,43067533,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+75G>T,,c.5074+75G>T,intron_variant,,,,1,1080658,9.253621404736743e-7,0,0,,,1.56,,0.00,-0.0100,0.340,,,0,25622,0,0,0,42722,0,0,0,23386,0,0,0,36984,0,0,0,51386,0,0,0,5020,0,0,1,770504,0,0,,,,,0,77674,0,0,0,47360,0,0 -17-43067534-A-T,17,43067534,rs1434924562,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+74T>A,,c.5074+74T>A,intron_variant,,,,1,1097194,9.114158480633325e-7,0,0,,,0.697,,0.00,-0.0200,-0.611,,,0,25988,0,0,0,42898,0,0,0,23486,0,0,0,37164,0,0,0,51480,0,0,0,5028,0,0,1,785182,0,0,,,,,0,78034,0,0,0,47934,0,0 -17-43067534-A-C,17,43067534,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+74T>G,,c.5074+74T>G,intron_variant,,,,2,1097196,0.0000018228283734173292,0,0,sas,0.00000425,0.786,,0.00,-0.0100,-0.611,,,0,25988,0,0,0,42898,0,0,0,23486,0,0,0,37164,0,0,0,51482,0,0,0,5028,0,0,0,785182,0,0,,,,,2,78034,0,0,0,47934,0,0 -17-43067535-T-G,17,43067535,rs987865924,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+73A>C,,c.5074+73A>C,intron_variant,,,,3,1260564,0.0000023798870981560636,0,0,afr,0.00001177,5.63,,0.00,-0.0200,0.272,,,3,67690,0,0,0,58446,0,0,0,27160,0,0,0,42564,0,0,0,62328,0,0,0,5380,0,0,0,862380,0,0,0,910,0,0,0,83168,0,0,0,50538,0,0 -17-43067536-G-A,17,43067536,rs2052148844,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+72C>T,,c.5074+72C>T,intron_variant,,,,2,1281162,0.0000015610828294938501,0,0,,,3.03,,0.00,-0.0200,0.337,,,0,68072,0,0,1,58536,0,0,0,27332,0,0,0,42676,0,0,0,62354,0,0,0,5410,0,0,1,881096,0,0,0,910,0,0,0,83452,0,0,0,51324,0,0 -17-43067536-GCGCCACCGTGCCT-G,17,43067536,rs1424905902,GCGCCACCGTGCCT,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5074+59_5074+71del,,c.5074+59_5074+71del,intron_variant,,,,1,152116,0.000006573930421520419,0,0,afr,0.000019710000000000003,1.27,,0.00,0.0100,0.337,,,1,41426,0,0,0,15276,0,0,0,3468,0,0,0,5178,0,0,0,10596,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 -17-43067537-C-T,17,43067537,rs761108258,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+71G>A,,c.5074+71G>A,intron_variant,,,,114,1270610,0.00008972068534011223,0,0,amr,0.00011893999999999997,0.532,,0.00,0.00,-0.682,,,2,67464,0,0,12,57988,0,0,0,27074,0,0,5,42314,0,0,7,61876,0,0,0,5386,0,0,86,873640,0,0,0,906,0,0,0,83186,0,0,2,50776,0,0 -17-43067538-G-T,17,43067538,rs778065395,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+70C>A,,c.5074+70C>A,intron_variant,,,,2,1142866,0.0000017499864376051085,0,0,nfe,4e-7,0.450,,0.00,-0.0400,-0.561,,,0,26940,0,0,0,43430,0,0,0,23984,0,0,0,37606,0,0,0,51872,0,0,0,5134,0,0,2,825154,0,0,,,,,0,79136,0,0,0,49610,0,0 -17-43067538-G-A,17,43067538,rs778065395,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+70C>T,,c.5074+70C>T,intron_variant,,,,122,1294970,0.00009421067669521302,0,0,nfe,0.00010333,0.574,,0.00,0.00,-0.561,,,1,68364,0,0,3,58686,0,0,0,27452,0,0,0,42778,0,0,2,62474,0,0,0,5450,0,0,109,893190,0,0,0,910,0,0,1,83962,0,0,6,51704,0,0 -17-43067539-C-T,17,43067539,rs933151704,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+69G>A,,c.5074+69G>A,intron_variant,,,,10,1311666,0.000007623892057886688,0,0,afr,0.00007840999999999999,3.56,,0.00,-0.0200,0.340,,,10,68654,0,0,0,58872,0,0,0,27626,0,0,0,42952,0,0,0,62730,0,0,0,5492,0,0,0,907666,0,0,0,910,0,0,0,84412,0,0,0,52352,0,0 -17-43067540-C-T,17,43067540,rs2153691311,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+68G>A,,c.5074+68G>A,intron_variant,,,,2,1173316,0.0000017045706357025728,0,0,nfe,3.900000000000001e-7,3.79,,0.00,0.00,0.340,,,0,27558,0,0,0,43704,0,0,0,24240,0,0,0,37902,0,0,0,52218,0,0,0,5206,0,0,2,851908,0,0,,,,,0,79878,0,0,0,50702,0,0 -17-43067542-C-G,17,43067542,rs2052149680,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+66G>C,,c.5074+66G>C,intron_variant,,,,2,578590,0.000003456679168322992,0,0,afr,0.00003301999999999999,3.17,,0.00,-0.0100,0.340,,,2,10626,0,0,0,642,0,0,0,3682,0,0,0,2356,0,0,0,194,0,0,0,1126,0,0,0,529664,0,0,,,,,0,11316,0,0,0,18984,0,0 -17-43067543-C-T,17,43067543,rs8176235,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+65G>A,,c.5074+65G>A,intron_variant,Benign,127126,,364798,1362902,0.2676626786078529,51570,0,sas,0.45854417999999975,3.77,,0.00,-0.0100,0.340,,,11618,69776,983,0,16273,58832,2248,0,7404,27932,954,0,15346,43192,2767,0,19363,62640,3010,0,1648,5576,255,0,238800,954462,29907,0,217,910,25,0,39591,85628,9466,0,14538,53954,1955,0 -17-43067544-G-A,17,43067544,rs2153691460,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+64C>T,,c.5074+64C>T,intron_variant,,,,9,1225238,0.000007345511647532969,0,0,nfe,0.0000032400000000000003,1.07,,0.00,0.00,-0.655,,,0,28586,0,0,1,43986,0,0,0,24554,0,0,0,38204,0,0,0,52420,0,0,0,5318,0,0,7,898674,0,0,,,,,1,81184,0,0,0,52312,0,0 -17-43067546-G-T,17,43067546,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+62C>A,,c.5074+62C>A,intron_variant,,,,1,1231504,8.12015226909535e-7,0,0,,,0.677,,0.00,-0.0400,0.337,,,0,28762,0,0,0,44076,0,0,0,24624,0,0,0,38296,0,0,0,52550,0,0,0,5326,0,0,1,903852,0,0,,,,,0,81392,0,0,0,52626,0,0 -17-43067547-C-T,17,43067547,rs2153691555,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+61G>A,,c.5074+61G>A,intron_variant,,,,1,1252196,7.985970247469246e-7,0,0,,,3.39,,0.00,-0.0200,0.340,,,0,29174,0,0,0,44082,0,0,0,24780,0,0,0,38366,0,0,0,52566,0,0,0,5348,0,0,1,922914,0,0,,,,,0,81720,0,0,0,53246,0,0 -17-43067548-C-T,17,43067548,rs2153691617,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+60G>A,,c.5074+60G>A,intron_variant,,,,1,1262404,7.921394418902348e-7,0,0,,,3.53,,0.00,-0.0300,0.340,,,0,29332,0,0,0,44156,0,0,0,24826,0,0,0,38478,0,0,0,52716,0,0,0,5374,0,0,1,932040,0,0,,,,,0,81880,0,0,0,53602,0,0 -17-43067550-C-T,17,43067550,rs969799016,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+58G>A,,c.5074+58G>A,intron_variant,,,,48,1418070,0.00003384882269563562,0,0,eas,0.0003030100000000001,0.636,,0.00,-0.0100,-0.588,,,0,70796,0,0,14,59442,0,0,0,28326,0,0,20,43630,0,0,0,63342,0,0,0,5694,0,0,9,1003316,0,0,0,910,0,0,2,86790,0,0,3,55824,0,0 -17-43067551-G-A,17,43067551,rs564362551,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+57C>T,,c.5074+57C>T,intron_variant,Benign,2075140,,65,1433200,0.0000453530560982417,0,0,eas,0.0008302300000000002,6.28,,0.740,0.640,-0.561,,,3,71312,0,0,1,59540,0,0,0,28444,0,0,47,43742,0,0,0,63304,0,0,0,5708,0,0,6,1016748,0,0,0,910,0,0,0,87136,0,0,8,56356,0,0 -17-43067552-C-T,17,43067552,rs2153691816,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+56G>A,,c.5074+56G>A,intron_variant,,,,1,1291498,7.742946562828592e-7,0,0,,,2.74,,0.00,-0.0300,-0.549,,,0,29970,0,0,0,44334,0,0,0,25036,0,0,0,38674,0,0,0,52892,0,0,1,5426,0,0,0,958030,0,0,,,,,0,82550,0,0,0,54586,0,0 -17-43067553-C-T,17,43067553,rs2153691872,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+55G>A,,c.5074+55G>A,intron_variant,,,,2,1305678,0.0000015317712330298895,0,0,nfe,3.399999999999999e-7,2.45,,0.00,-0.0400,0.340,,,0,30294,0,0,0,44396,0,0,0,25112,0,0,0,38728,0,0,0,52996,0,0,0,5454,0,0,2,970814,0,0,,,,,0,82804,0,0,0,55080,0,0 -17-43067555-C-G,17,43067555,rs2153691955,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+53G>C,,c.5074+53G>C,intron_variant,,,,1,1314722,7.606170734193236e-7,0,0,,,2.94,,0.00,-0.0300,0.340,,,0,30480,0,0,0,44418,0,0,0,25164,0,0,0,38788,0,0,0,53046,0,0,0,5482,0,0,1,978878,0,0,,,,,0,83050,0,0,0,55416,0,0 -17-43067555-CAT-C,17,43067555,rs1212800520,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+51_5074+52del,,c.5074+51_5074+52del,intron_variant,,,,31,1466726,0.00002113550860896991,0,0,nfe,0.00001943,4.31,,0.00,-0.0700,0.340,,,1,71864,0,0,0,59672,0,0,0,28632,0,0,0,43966,0,0,0,63634,0,0,0,5798,0,0,29,1046868,0,0,0,908,0,0,1,87876,0,0,0,57508,0,0 -17-43067555-C-A,17,43067555,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+53G>T,,c.5074+53G>T,intron_variant,,,,1,1314720,7.606182304977486e-7,0,0,,,2.75,,0.00,0.00,0.340,,,0,30480,0,0,0,44418,0,0,0,25164,0,0,0,38788,0,0,0,53046,0,0,0,5482,0,0,0,978876,0,0,,,,,1,83050,0,0,0,55416,0,0 -17-43067556-A-G,17,43067556,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+52T>C,,c.5074+52T>C,intron_variant,,,,2,1315592,0.0000015202281558416287,0,0,nfe,3.399999999999999e-7,7.70,,0.00,-0.0300,0.271,,,0,30490,0,0,0,44414,0,0,0,25176,0,0,0,38796,0,0,0,53032,0,0,0,5476,0,0,2,979622,0,0,,,,,0,83102,0,0,0,55484,0,0 -17-43067557-T-G,17,43067557,rs2052150412,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+51A>C,,c.5074+51A>C,intron_variant,,,,4,1313954,0.000003044246602240261,0,0,nfe,8.2e-7,5.60,,0.0100,0.0100,0.272,,,0,30446,0,0,0,44402,0,0,0,25130,0,0,1,38740,0,0,0,53000,0,0,0,5462,0,0,3,978222,0,0,,,,,0,83104,0,0,0,55448,0,0 -17-43067558-G-T,17,43067558,rs1435440890,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+50C>A,,c.5074+50C>A,intron_variant,,,,2,1328454,0.0000015055094116920873,0,0,afr,0.00001078,0.788,,0.00,0.00,-0.557,,,2,30732,0,0,0,44444,0,0,0,25264,0,0,0,38872,0,0,0,53068,0,0,0,5490,0,0,0,991276,0,0,,,,,0,83384,0,0,0,55924,0,0 -17-43067558-G-A,17,43067558,rs1435440890,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+50C>T,,c.5074+50C>T,intron_variant,,,,1,1328460,7.52751306023516e-7,0,0,,,0.995,,0.00,0.00,-0.557,,,0,30732,0,0,1,44444,0,0,0,25264,0,0,0,38872,0,0,0,53068,0,0,0,5490,0,0,0,991282,0,0,,,,,0,83384,0,0,0,55924,0,0 -17-43067559-T-TG,17,43067559,rs1567771848,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+48dup,,c.5074+48dup,intron_variant,,,,1,1336326,7.48320394873706e-7,0,0,,,2.22,,0.00,-0.0200,0.272,,,0,30876,0,0,1,44472,0,0,0,25308,0,0,0,38928,0,0,0,53108,0,0,0,5510,0,0,0,998444,0,0,,,,,0,83540,0,0,0,56140,0,0 -17-43067559-TG-T,17,43067559,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+48del,,c.5074+48del,intron_variant,,,,1,1336320,7.483237547892721e-7,0,0,,,0.207,,0.00,-0.0200,0.272,,,0,30874,0,0,0,44472,0,0,0,25308,0,0,0,38928,0,0,0,53108,0,0,0,5510,0,0,1,998440,0,0,,,,,0,83540,0,0,0,56140,0,0 -17-43067561-G-A,17,43067561,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+47C>T,,c.5074+47C>T,intron_variant,,,,1,1357516,7.366395681524196e-7,0,0,,,2.89,,0.00,0.00,0.346,,,0,31266,0,0,0,44506,0,0,0,25464,0,0,0,39052,0,0,0,53086,0,0,0,5578,0,0,1,1017700,0,0,,,,,0,83984,0,0,0,56880,0,0 -17-43067565-T-C,17,43067565,rs2052150842,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+43A>G,,c.5074+43A>G,intron_variant,,,,3,1370246,0.000002189387890933453,0,0,eas,0.00002034,5.76,,0.0200,-0.0500,1.06,,,0,31536,0,0,0,44544,0,0,0,25546,0,0,3,39096,0,0,0,53212,0,0,0,5606,0,0,0,1029100,0,0,,,,,0,84280,0,0,0,57326,0,0 -17-43067567-T-C,17,43067567,rs2052151107,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+41A>G,,c.5074+41A>G,intron_variant,,,,9,897548,0.000010027318873196754,0,0,nfe,0.00000459,3.73,,0.0200,-0.0100,-1.45,,,0,55386,0,0,0,16140,0,0,0,8090,0,0,0,8318,0,0,1,10874,0,0,0,1784,0,0,8,750100,0,0,0,910,0,0,0,19444,0,0,0,26502,0,0 -17-43067568-G-A,17,43067568,rs1323457884,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+40C>T,,c.5074+40C>T,intron_variant,,,,5,1522708,0.000003283623649445593,0,0,nfe,0.0000013299999999999998,0.243,,0.00,0.00,-0.945,,,0,72926,0,0,0,59794,0,0,0,29018,0,0,0,44298,0,0,0,63760,0,0,0,5924,0,0,5,1097546,0,0,0,910,0,0,0,89140,0,0,0,59392,0,0 -17-43067569-C-T,17,43067569,rs1200270723,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+39G>A,,c.5074+39G>A,intron_variant,,,,3,1376692,0.0000021791366551123997,0,0,amr,0.000007440000000000001,3.79,,0.0100,-0.0100,-1.56,,,0,31656,0,0,2,44536,0,0,0,25580,0,0,0,39136,0,0,0,53190,0,0,0,5616,0,0,1,1035140,0,0,,,,,0,84376,0,0,0,57462,0,0 -17-43067572-C-A,17,43067572,rs2153692791,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+36G>T,,c.5074+36G>T,intron_variant,,,,1,1384198,7.224399977459872e-7,0,0,,,1.61,,0.00,0.00,-0.0620,,,0,31800,0,0,0,44572,0,0,0,25644,0,0,0,39206,0,0,0,53242,0,0,0,5640,0,0,1,1041750,0,0,,,,,0,84592,0,0,0,57752,0,0 -17-43067574-G-T,17,43067574,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+34C>A,,c.5074+34C>A,intron_variant,,,,1,1393704,7.17512470366735e-7,0,0,,,3.05,,0.00,0.00,0.917,,,0,32026,0,0,0,44594,0,0,1,25698,0,0,0,39276,0,0,0,53278,0,0,0,5660,0,0,0,1050394,0,0,,,,,0,84762,0,0,0,58016,0,0 -17-43067579-A-G,17,43067579,rs778992032,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+29T>C,,c.5074+29T>C,intron_variant,Likely benign,1697600,,10,1549222,0.000006454852822900785,0,0,amr,0.00001329,9.70,,0.0700,-0.0500,0.615,,,0,73476,0,0,3,59890,0,0,0,29206,0,0,0,44520,0,0,0,63932,0,0,0,5982,0,0,7,1121402,0,0,0,908,0,0,0,89634,0,0,0,60272,0,0 -17-43067581-G-T,17,43067581,rs758630283,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+27C>A,,c.5074+27C>A,intron_variant,,,,2,1406520,0.0000014219492079742912,0,0,amr,0.000007430000000000001,0.473,,0.00,-0.0200,0.252,,,0,32244,0,0,2,44630,0,0,0,25792,0,0,0,39372,0,0,0,53314,0,0,0,5672,0,0,0,1062000,0,0,,,,,0,85024,0,0,0,58472,0,0 -17-43067581-G-A,17,43067581,rs758630283,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+27C>T,,c.5074+27C>T,intron_variant,,,,1,1406520,7.109746039871456e-7,0,0,,,0.602,,0.00,0.00,0.252,,,0,32244,0,0,0,44630,0,0,0,25792,0,0,0,39372,0,0,0,53314,0,0,0,5672,0,0,1,1062000,0,0,,,,,0,85024,0,0,0,58472,0,0 -17-43067582-G-T,17,43067582,rs2052152396,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+26C>A,,c.5074+26C>A,intron_variant,,,,2,1408498,0.0000014199523180011615,0,0,nfe,3.1e-7,1.85,,0.0200,-0.0100,-0.625,,,0,32324,0,0,0,44650,0,0,0,25796,0,0,0,39406,0,0,0,53330,0,0,0,5680,0,0,2,1063700,0,0,,,,,0,85046,0,0,0,58566,0,0 -17-43067582-G-A,17,43067582,rs2052152396,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+26C>T,,c.5074+26C>T,intron_variant,,,,5,1408500,0.0000035498757543485977,0,0,nfe,0.0000013800000000000001,1.87,,0.00,0.00,-0.625,,,0,32324,0,0,0,44650,0,0,0,25796,0,0,0,39406,0,0,0,53330,0,0,0,5680,0,0,5,1063702,0,0,,,,,0,85046,0,0,0,58566,0,0 -17-43067583-T-C,17,43067583,rs943281215,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5074+25A>G,,c.5074+25A>G,intron_variant,,,,1,152084,0.000006575313642460746,0,0,,,3.71,,0.0200,-0.0200,0.242,,,0,41398,0,0,0,15268,0,0,0,3472,0,0,0,5186,0,0,0,10604,0,0,0,316,0,0,1,68010,0,0,0,910,0,0,0,4830,0,0,0,2090,0,0 -17-43067585-T-A,17,43067585,rs778115859,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+23A>T,,c.5074+23A>T,intron_variant,,,,1,1418634,7.049034493745392e-7,0,0,,,2.02,,0.00,0.00,0.0820,,,0,32526,0,0,0,44664,0,0,0,25866,0,0,1,39462,0,0,0,53352,0,0,0,5698,0,0,0,1072868,0,0,,,,,0,85290,0,0,0,58908,0,0 -17-43067585-T-C,17,43067585,rs778115859,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+23A>G,,c.5074+23A>G,intron_variant,Likely benign,371973,,38,1570724,0.00002419266529320237,1,0,amr,0.0002892500000000001,2.96,,0.0400,-0.0400,0.0820,,,0,73932,0,0,25,59932,0,0,3,29336,0,0,0,44648,0,0,0,63958,0,0,2,6014,1,0,7,1140882,0,0,0,910,0,0,0,90112,0,0,1,61000,0,0 -17-43067586-T-C,17,43067586,rs2153693435,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+22A>G,,c.5074+22A>G,intron_variant,,,,1,787574,0.0000012697219562860124,0,0,,,9.51,,0.0400,-0.0500,0.744,,,1,14784,0,0,0,940,0,0,0,4890,0,0,0,3422,0,0,0,266,0,0,0,1548,0,0,0,720514,0,0,,,,,0,15450,0,0,0,25760,0,0 -17-43067588-T-G,17,43067588,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+20A>C,,c.5074+20A>C,intron_variant,,,,3,1423190,0.000002107940612286483,0,0,nfe,3.1e-7,9.13,,0.0100,0.0100,0.729,,,0,32610,0,0,0,44684,0,0,0,25900,0,0,1,39508,0,0,0,53358,0,0,0,5702,0,0,2,1076992,0,0,,,,,0,85382,0,0,0,59054,0,0 -17-43067588-T-C,17,43067588,rs1597825487,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+20A>G,,c.5074+20A>G,intron_variant,Likely benign,761300,,1,1423190,7.02646870762161e-7,0,0,,,9.71,,0.0500,-0.0400,0.729,,,0,32610,0,0,0,44684,0,0,0,25900,0,0,0,39508,0,0,0,53358,0,0,0,5702,0,0,1,1076992,0,0,,,,,0,85382,0,0,0,59054,0,0 -17-43067589-G-T,17,43067589,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+19C>A,,c.5074+19C>A,intron_variant,,,,1,796610,0.0000012553194160254076,0,0,,,1.66,,0.0200,-0.0100,-0.245,,,0,14962,0,0,0,952,0,0,0,4942,0,0,0,3466,0,0,0,268,0,0,0,1560,0,0,1,728722,0,0,,,,,0,15658,0,0,0,26080,0,0 -17-43067592-A-G,17,43067592,rs746775027,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+16T>C,,c.5074+16T>C,intron_variant,Likely benign,462660,,4,628372,0.000006365656012680387,0,0,nfe,0.0000036699999999999996,11.5,,0.0500,-0.100,-0.309,,,0,17680,0,0,0,43734,0,0,0,20968,0,0,0,36044,0,0,0,53098,0,0,0,4146,0,0,4,349856,0,0,,,,,0,69790,0,0,0,33056,0,0 -17-43067594-G-T,17,43067594,rs370299792,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+14C>A,,c.5074+14C>A,intron_variant,,,,1,1435004,6.968621690253128e-7,0,0,,,4.45,,0.0100,-0.0300,1.21,,,0,32890,0,0,0,44684,0,0,1,25954,0,0,0,39572,0,0,0,53362,0,0,0,5728,0,0,0,1087692,0,0,,,,,0,85664,0,0,0,59458,0,0 -17-43067594-G-C,17,43067594,rs370299792,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+14C>G,,c.5074+14C>G,intron_variant,,,,1,1435008,6.968602265631968e-7,0,0,,,4.84,,0.0200,-0.0300,1.21,,,0,32890,0,0,0,44684,0,0,0,25954,0,0,1,39572,0,0,0,53362,0,0,0,5728,0,0,0,1087696,0,0,,,,,0,85664,0,0,0,59458,0,0 -17-43067594-G-A,17,43067594,rs370299792,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+14C>T,,c.5074+14C>T,intron_variant,Likely benign,136088,,14,1587094,0.000008821153630471792,0,0,nfe,0.00000703,4.84,,0.00,0.00,1.21,,,0,74306,0,0,0,59946,0,0,0,29426,0,0,0,44760,0,0,0,63950,0,0,0,6044,0,0,14,1155714,0,0,0,908,0,0,0,90490,0,0,0,61550,0,0 -17-43067595-G-C,17,43067595,rs2153693830,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+13C>G,,c.5074+13C>G,intron_variant,Likely benign,1996100,,2,1436500,0.000001392272885485555,0,0,,,8.53,,0.0400,-0.0700,1.22,,,0,32918,0,0,0,44694,0,0,0,25968,0,0,0,39574,0,0,0,53370,0,0,1,5724,0,0,1,1089058,0,0,,,,,0,85698,0,0,0,59496,0,0 -17-43067595-G-T,17,43067595,rs2153693830,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+13C>A,,c.5074+13C>A,intron_variant,,,,6,1436500,0.000004176818656456665,0,0,nfe,0.0000019800000000000005,6.72,,0.00,-0.0200,1.22,,,0,32918,0,0,0,44694,0,0,0,25968,0,0,0,39574,0,0,0,53370,0,0,0,5724,0,0,6,1089058,0,0,,,,,0,85698,0,0,0,59496,0,0 -17-43067598-C-G,17,43067598,rs780970459,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+10G>C,,c.5074+10G>C,intron_variant,Likely benign,868998,,1,1440590,6.941600316536975e-7,0,0,,,1.59,,0.00,0.00,0.330,,,0,33022,0,0,0,44700,0,0,0,26002,0,0,1,39582,0,0,0,53380,0,0,0,5732,0,0,0,1092708,0,0,,,,,0,85798,0,0,0,59666,0,0 -17-43067598-C-T,17,43067598,rs780970459,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+10G>A,,c.5074+10G>A,intron_variant,not provided,868997,,4,1440590,0.00000277664012661479,0,0,sas,0.00001588,1.92,,0.00,0.00,0.330,,,0,33022,0,0,0,44700,0,0,0,26002,0,0,0,39582,0,0,0,53380,0,0,0,5732,0,0,0,1092708,0,0,,,,,4,85798,0,0,0,59666,0,0 -17-43067599-T-C,17,43067599,rs2052153659,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+9A>G,,c.5074+9A>G,intron_variant,not provided,868995,,2,813492,0.000002458536777251651,0,0,nfe,4.4999999999999993e-7,10.6,,0.100,-0.0700,-0.921,,,0,15384,0,0,0,964,0,0,0,5032,0,0,0,3554,0,0,0,274,0,0,0,1592,0,0,2,744028,0,0,,,,,0,16048,0,0,0,26616,0,0 -17-43067601-G-T,17,43067601,rs1597825506,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+7C>A,,c.5074+7C>A,splice_region_variant,not provided,868600,,1,816028,0.0000012254481463871338,0,0,,,5.83,,0.00,0.00,1.65,,,0,15430,0,0,0,972,0,0,0,5044,0,0,0,3566,0,0,0,274,0,0,0,1596,0,0,1,746352,0,0,,,,,0,16136,0,0,0,26658,0,0 -17-43067602-G-C,17,43067602,rs80358032,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+6C>G,,c.5074+6C>G,intron_variant,Benign,91636,,51,1600484,0.00003186536072837966,0,0,nfe,0.00002693,4.50,,0.00,0.00,1.12,,,3,74566,0,0,4,59976,0,0,0,29514,0,0,0,44802,0,0,0,63972,0,0,1,6062,0,0,42,1167848,0,0,0,912,0,0,0,90824,0,0,1,62008,0,0 -17-43067603-T-A,17,43067603,rs431825411,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+5A>T,,c.5074+5A>T,intron_variant,Likely benign,96938,,12,1448264,0.000008285782150215706,0,0,nfe,0.00000582,6.04,,0.0400,-0.0200,-2.06,,,0,33186,0,0,0,44712,0,0,0,26038,0,0,0,39632,0,0,0,53382,0,0,0,5744,0,0,12,1099674,0,0,,,,,0,86000,0,0,0,59896,0,0 -17-43067605-T-C,17,43067605,rs80358181,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+3A>G,,c.5074+3A>G,intron_variant,Pathogenic/Likely pathogenic,55375,,2,822626,0.00000243123849720286,0,0,nfe,4.4e-7,23.4,,0.710,-0.650,3.73,,,0,15558,0,0,0,978,0,0,0,5086,0,0,0,3590,0,0,0,276,0,0,0,1604,0,0,2,752338,0,0,,,,,0,16272,0,0,0,26924,0,0 -17-43067607-C-T,17,43067607,rs80358053,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+1G>A,,c.5074+1G>A,splice_donor_variant,Pathogenic,37629,,3,628478,0.000004773436779012153,0,0,sas,0.00000476,32.0,,0.740,-0.700,8.86,,,0,17682,0,0,0,43734,0,0,0,20972,0,0,0,36042,0,0,1,53110,0,0,0,4148,0,0,0,349924,0,0,,,,,2,69790,0,0,0,33076,0,0 -17-43067608-C-G,17,43067608,rs80187739,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1692His,p.Asp1692His,c.5074G>C,missense_variant,Pathogenic,37633,,4,628514,0.000006364217821719166,0,0,,,35.0,0.815,0.740,-0.700,8.86,0.00,0.689,0,17688,0,0,1,43736,0,0,2,20974,0,0,0,36046,0,0,0,53108,0,0,0,4148,0,0,1,349944,0,0,,,,,0,69786,0,0,0,33084,0,0 -17-43067609-T-C,17,43067609,rs80356853,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691Thr,p.Thr1691Thr,c.5073A>G,splice_region_variant,Uncertain significance,55374,,1,1455088,6.872436581155229e-7,0,0,,,22.8,,0.710,-0.640,3.72,,,0,33346,0,0,0,44714,0,0,0,26084,0,0,0,39644,0,0,0,53394,0,0,0,5756,0,0,1,1105864,0,0,,,,,0,86130,0,0,0,60156,0,0 -17-43067610-G-GT,17,43067610,rs80357672,G,GT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691AsnfsTer4,p.Thr1691AsnfsTer4,c.5071dup,frameshift_variant,Pathogenic,55372,lof_flag,1,1456074,6.867782818730367e-7,0,0,,,33.0,,0.100,-0.0800,8.76,,,0,33354,0,0,0,44714,0,0,0,26092,0,0,0,39646,0,0,0,53390,0,0,0,5760,0,0,1,1106760,0,0,,,,,0,86160,0,0,0,60198,0,0 -17-43067611-T-C,17,43067611,rs397509219,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691Ala,p.Thr1691Ala,c.5071A>G,missense_variant,Conflicting interpretations of pathogenicity,55371,,3,1456898,0.000002059169550648021,0,0,nfe,7.200000000000001e-7,23.4,0.747,0.0700,-0.110,6.33,0.00,0.315,0,33364,0,0,0,44718,0,0,0,26092,0,0,0,39648,0,0,0,53396,0,0,0,5760,0,0,3,1107534,0,0,,,,,0,86172,0,0,0,60214,0,0 -17-43067614-T-C,17,43067614,rs397507239,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1690Glu,p.Lys1690Glu,c.5068A>G,missense_variant,not provided,867593,,1,1457970,6.858851691049884e-7,0,0,,,23.9,0.665,0.00,0.00,6.33,0.00,0.00300,0,33394,0,0,0,44716,0,0,0,26100,0,0,0,39664,0,0,0,53398,0,0,0,5762,0,0,1,1108466,0,0,,,,,0,86200,0,0,0,60270,0,0 -17-43067614-T-A,17,43067614,rs397507239,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1690Ter,p.Lys1690Ter,c.5068A>T,stop_gained,Pathogenic,37626,lof_flag,2,1457970,0.0000013717703382099768,0,0,,,48.0,,0.440,-0.450,6.33,,,0,33394,0,0,0,44716,0,0,0,26100,0,0,0,39664,0,0,0,53398,0,0,0,5762,0,0,1,1108466,0,0,,,,,0,86200,0,0,1,60270,0,0 -17-43067614-T-G,17,43067614,rs397507239,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1690Gln,p.Lys1690Gln,c.5068A>C,missense_variant,Conflicting interpretations of pathogenicity,55370,,21,1610158,0.000013042198343268176,0,0,eas,0.00031322000000000007,25.8,0.720,0.110,-0.0700,6.33,0.00,0.0510,0,74834,0,0,0,59984,0,0,0,29572,0,0,21,44856,0,0,0,64020,0,0,0,6078,0,0,0,1176504,0,0,0,912,0,0,0,91034,0,0,0,62364,0,0 -17-43067616-A-G,17,43067616,rs80357061,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1689Thr,p.Met1689Thr,c.5066T>C,missense_variant,Uncertain significance,55369,,4,1458658,0.0000027422466404050846,0,0,nfe,7.200000000000001e-7,24.9,0.603,0.00,0.00,6.30,0.00,0.850,1,33408,0,0,0,44718,0,0,0,26106,0,0,0,39670,0,0,0,53400,0,0,0,5762,0,0,3,1109094,0,0,,,,,0,86216,0,0,0,60284,0,0 -17-43067617-TAAC-T,17,43067617,rs80358344,TAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1688del,p.Val1688del,c.5062_5064del,inframe_deletion,Pathogenic,55368,,1,152280,0.000006566850538481744,0,0,,,17.6,,0.00,0.0100,6.33,,,0,41544,0,0,0,15290,0,0,0,3472,0,0,0,5184,0,0,0,10618,0,0,0,294,0,0,1,68026,0,0,0,910,0,0,0,4832,0,0,0,2110,0,0 -17-43067618-A-G,17,43067618,rs1567771967,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1688Val,p.Val1688Val,c.5064T>C,synonymous_variant,Conflicting interpretations of pathogenicity,584945,,1,830536,0.0000012040417272701003,0,0,,,6.02,,0.00,0.00,0.341,,,0,15728,0,0,0,982,0,0,0,5130,0,0,0,3622,0,0,0,276,0,0,0,1616,0,0,1,759536,0,0,,,,,0,16426,0,0,0,27220,0,0 -17-43067622-A-G,17,43067622,rs1555579627,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1687Ala,p.Val1687Ala,c.5060T>C,missense_variant,not provided,868577,,1,628638,0.0000015907406170164705,0,0,,,25.2,0.856,0.00,0.00,6.30,0.00,0.431,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,0,350018,0,0,,,,,1,69794,0,0,0,33086,0,0 -17-43067622-A-C,17,43067622,rs1555579627,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1687Gly,p.Val1687Gly,c.5060T>G,missense_variant,Likely pathogenic,433721,,1,628638,0.0000015907406170164705,0,0,,,25.9,0.869,0.00,0.00,6.30,0.00,0.695,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,1,350018,0,0,,,,,0,69794,0,0,0,33086,0,0 -17-43067624-A-ATGAG,17,43067624,rs879254050,A,ATGAG,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1687SerfsTer9,p.Val1687SerfsTer9,c.5054_5057dup,frameshift_variant,Pathogenic,246021,lof_flag,1,152172,0.000006571511184712037,0,0,,,33.0,,0.400,-0.250,-0.313,,,1,41436,0,0,0,15272,0,0,0,3472,0,0,0,5190,0,0,0,10608,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43067625-T-C,17,43067625,rs730882166,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1686Arg,p.His1686Arg,c.5057A>G,missense_variant,Pathogenic/Likely pathogenic,183179,,2,831258,0.0000024059918821833893,0,0,nfe,4.4e-7,24.9,0.905,0.00,0.00,6.33,0.00,0.682,0,15744,0,0,0,982,0,0,0,5138,0,0,0,3620,0,0,0,276,0,0,0,1610,0,0,2,760210,0,0,,,,,0,16432,0,0,0,27246,0,0 -17-43067628-G-A,17,43067628,rs80357043,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1685Ile,p.Thr1685Ile,c.5054C>T,missense_variant,Pathogenic,55365,,3,983496,0.0000030503428585372998,0,0,nfe,4e-7,25.8,0.880,0.190,-0.150,8.76,0.00,0.274,0,57134,0,0,0,16244,0,0,0,8610,0,0,1,8824,0,0,0,10888,0,0,0,1930,0,0,2,828354,0,0,0,912,0,0,0,21266,0,0,0,29334,0,0 -17-43067630-A-C,17,43067630,rs760922019,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>G,synonymous_variant,Likely benign,743279,,2,1460130,0.0000013697410504544116,0,0,sas,0.00000385,7.89,,0.00,0.00,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53398,0,0,0,5760,0,0,0,1110432,0,0,,,,,2,86232,0,0,0,60334,0,0 -17-43067630-A-G,17,43067630,rs760922019,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>C,synonymous_variant,Likely benign,380856,,2,1460130,0.0000013697410504544116,0,0,,,8.16,,0.00,-0.0300,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,1,53398,0,0,0,5760,0,0,1,1110432,0,0,,,,,0,86232,0,0,0,60334,0,0 -17-43067630-A-T,17,43067630,rs760922019,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>A,synonymous_variant,Likely benign,631078,,6,1460130,0.000004109223151363235,0,0,nfe,0.00000194,7.76,,0.00,0.00,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53398,0,0,0,5760,0,0,6,1110432,0,0,,,,,0,86232,0,0,0,60334,0,0 -17-43067640-G-A,17,43067640,rs766784305,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1681Ile,p.Thr1681Ile,c.5042C>T,missense_variant,Uncertain significance,188416,,4,1460942,0.0000027379594809376416,0,0,sas,0.00000385,22.3,0.581,0.110,-0.0400,7.00,0.00,0.0100,0,33464,0,0,0,44724,0,0,0,26128,0,0,0,39684,0,0,0,53402,0,0,0,5762,0,0,2,1111160,0,0,,,,,2,86242,0,0,0,60376,0,0 -17-43067643-A-G,17,43067643,rs1489545368,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1680Thr,p.Ile1680Thr,c.5039T>C,missense_variant,not provided,868554,,1,628700,0.0000015905837442341339,0,0,,,24.4,0.685,0.00,0.00,6.30,0.00,0.0210,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,1,350058,0,0,,,,,0,69796,0,0,0,33092,0,0 -17-43067645-T-C,17,43067645,rs754256578,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Leu,p.Leu1679Leu,c.5037A>G,synonymous_variant,Likely benign,427353,,6,628690,0.000009543654265218153,0,0,nfe,0.0000036699999999999996,2.96,,0.100,0.00,0.176,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,1,53128,0,0,0,4148,0,0,4,350050,0,0,,,,,0,69796,0,0,1,33094,0,0 -17-43067646-A-G,17,43067646,rs760038328,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Pro,p.Leu1679Pro,c.5036T>C,missense_variant,Conflicting interpretations of pathogenicity,216672,,1,1461218,6.843605813780011e-7,0,0,,,9.01,0.596,0.0900,0.00,-1.67,0.100,0.354,0,33464,0,0,1,44724,0,0,0,26130,0,0,0,39688,0,0,0,53406,0,0,0,5764,0,0,0,1111406,0,0,,,,,0,86250,0,0,0,60386,0,0 -17-43067646-AG-A,17,43067646,rs80357896,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Ter,p.Leu1679Ter,c.5035del,frameshift_variant,Pathogenic,55358,lof_flag,2,1461218,0.0000013687211627560021,0,0,sas,0.00000385,22.9,,0.380,-0.380,-1.67,,,0,33464,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53406,0,0,0,5764,0,0,0,1111406,0,0,,,,,2,86250,0,0,0,60386,0,0 -17-43067647-G-T,17,43067647,rs934248073,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Ile,p.Leu1679Ile,c.5035C>A,missense_variant,not provided,867557,,1,628692,0.0000015906039841448595,0,0,,,0.694,0.444,0.0900,-0.0600,-1.63,0.510,0.00,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36062,0,0,0,53126,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43067648-ATTAG-A,17,43067648,rs80357580,ATTAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1677IlefsTer2,p.Thr1677IlefsTer2,c.5030_5033del,frameshift_variant,Pathogenic,37623,lof_flag,2,984686,0.0000020311043317362085,0,0,,,26.5,,0.0600,0.0100,0.134,,,0,57198,0,0,0,16248,0,0,0,8618,0,0,0,8826,0,0,0,10866,0,0,0,1932,0,0,2,829436,0,0,0,910,0,0,0,21274,0,0,0,29378,0,0 -17-43067649-T-C,17,43067649,rs2052173415,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1678Ser,p.Asn1678Ser,c.5033A>G,missense_variant,not provided,865556,,1,832592,0.000001201068470511367,0,0,,,19.1,0.259,0.0500,-0.0300,1.42,0.180,0.00300,0,15774,0,0,0,984,0,0,1,5148,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,0,761418,0,0,,,,,0,16456,0,0,0,27292,0,0 -17-43067657-A-G,17,43067657,rs876658226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1675Thr,p.Thr1675Thr,c.5025T>C,synonymous_variant,Likely benign,229833,,2,628712,0.0000031811067706676506,0,0,,,3.55,,0.120,0.00,-0.0520,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,1,36062,0,0,0,53132,0,0,0,4148,0,0,0,350066,0,0,,,,,1,69796,0,0,0,33096,0,0 -17-43067658-G-A,17,43067658,rs150729791,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1675Ile,p.Thr1675Ile,c.5024C>T,missense_variant,Benign,240811,,20,1613464,0.000012395690266408176,0,0,nfe,0.00001107,14.9,0.475,0.0300,-0.0200,0.196,0.0300,0.0150,0,74862,0,0,0,59960,0,0,0,29600,0,0,0,44884,0,0,0,64000,0,0,0,6082,0,0,20,1179606,0,0,0,912,0,0,0,91080,0,0,0,62478,0,0 -17-43067659-T-C,17,43067659,rs774452090,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1675Ala,p.Thr1675Ala,c.5023A>G,missense_variant,Likely benign,482928,,2,780782,0.0000025615344616038794,0,0,,,0.377,0.539,0.00,0.00,-1.56,0.220,0.00,0,59094,0,0,1,58988,0,0,0,24450,0,0,1,41250,0,0,0,63728,0,0,0,4464,0,0,0,418084,0,0,0,910,0,0,0,74626,0,0,0,35188,0,0 -17-43067659-T-A,17,43067659,rs774452090,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1675Ser,p.Thr1675Ser,c.5023A>T,missense_variant,Conflicting interpretations of pathogenicity,825381,,1,628712,0.0000015905533853338253,0,0,,,0.365,0.501,0.0200,-0.0400,-1.56,0.0500,0.00,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43067660-G-A,17,43067660,rs786203868,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1674Ile,p.Ile1674Ile,c.5022C>T,synonymous_variant,Likely benign,187617,,23,1613452,0.000014255149827822581,0,0,afr,0.00010256999999999999,3.91,,0.120,-0.130,0.0610,,,13,74874,0,0,2,59956,0,0,0,29598,0,0,0,44878,0,0,0,63996,0,0,1,6080,0,0,4,1179598,0,0,0,912,0,0,0,91082,0,0,3,62478,0,0 -17-43067660-G-C,17,43067660,rs786203868,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1674Met,p.Ile1674Met,c.5022C>G,missense_variant,,,,1,152060,0.000006576351440220966,0,0,,,7.22,0.453,0.0100,-0.0300,0.0610,,,0,41404,0,0,0,15232,0,0,0,3468,0,0,0,5188,0,0,0,10592,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43067662-T-C,17,43067662,rs1050371477,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1674Val,p.Ile1674Val,c.5020A>G,missense_variant,not provided,867544,,3,1461430,0.0000020527839171222705,0,0,nfe,7.200000000000001e-7,11.2,0.481,0.00,0.00,-0.0380,0.350,0.00100,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53408,0,0,0,5764,0,0,3,1111596,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43067665-G-A,17,43067665,rs758539222,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1673Tyr,p.His1673Tyr,c.5017C>T,missense_variant,Likely benign,865537,,1,628696,0.0000015905938641251098,0,0,,,15.2,0.532,0.0100,0.00,0.700,0.0600,0.296,0,17692,0,0,0,43736,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4146,0,0,0,350058,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43067667-T-C,17,43067667,rs1567772328,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1672Arg,p.His1672Arg,c.5015A>G,missense_variant,Uncertain significance,868927,,1,628716,0.0000015905432659579206,0,0,,,19.7,0.514,0.00,0.00,3.60,0.110,0.0590,0,17690,0,0,0,43738,0,0,0,20982,0,0,1,36062,0,0,0,53134,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43067670-T-C,17,43067670,rs2052181606,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1671Arg,p.Lys1671Arg,c.5012A>G,missense_variant,Uncertain significance,868525,,1,832620,0.0000012010280800365112,0,0,,,18.1,0.420,0.00,0.00,2.40,0.110,0.00,0,15774,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,761440,0,0,,,,,0,16456,0,0,1,27292,0,0 -17-43067672-T-C,17,43067672,rs777828258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1670Arg,p.Arg1670Arg,c.5010A>G,synonymous_variant,Likely benign,427336,,1,628710,0.000001590558445070064,0,0,,,5.46,,0.00,0.00,1.43,,,0,17690,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43067675-G-A,17,43067675,rs751856943,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1669Ala,p.Ala1669Ala,c.5007C>T,synonymous_variant,Likely benign,427317,,2,628692,0.000003181207968289719,0,0,sas,0.00000476,9.70,,0.210,-0.180,3.31,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,0,4146,0,0,0,350058,0,0,,,,,2,69786,0,0,0,33096,0,0 -17-43067677-C-T,17,43067677,rs80357087,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1669Thr,p.Ala1669Thr,c.5005G>A,missense_variant,Uncertain significance,868917,,1,1460486,6.847035849710302e-7,0,0,,,24.5,0.647,0.0300,-0.0800,7.11,0.00,0.462,0,33442,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53402,0,0,0,5760,0,0,1,1110768,0,0,,,,,0,86222,0,0,0,60356,0,0 -17-43067677-C-A,17,43067677,rs80357087,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1669Ser,p.Ala1669Ser,c.5005G>T,missense_variant,Conflicting interpretations of pathogenicity,41831,,150,1612512,0.00009302256355301542,0,0,nfe,0.0001004,23.7,0.704,0.0300,-0.0500,7.11,0.00,0.455,1,74836,0,0,0,59964,0,0,7,29604,0,0,0,44870,0,0,0,63984,0,0,0,6076,0,0,138,1178788,0,0,0,912,0,0,0,91036,0,0,4,62442,0,0 -17-43067680-A-G,17,43067680,rs587781472,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1668Leu,p.Phe1668Leu,c.5002T>C,missense_variant,not provided,868514,,6,1460500,0.000004108182129407737,0,0,nfe,0.0000013199999999999999,23.2,0.601,0.00,0.00,6.30,0.00,0.188,0,33444,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53406,0,0,0,5760,0,0,5,1110768,0,0,,,,,1,86228,0,0,0,60356,0,0 -17-43067681-C-T,17,43067681,rs889937720,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1667Lys,p.Lys1667Lys,c.5001G>A,synonymous_variant,Likely benign,482927,,2,780744,0.0000025616591353888085,0,0,,,5.34,,0.150,-0.120,2.47,,,0,59096,0,0,0,58990,0,0,0,24450,0,0,0,41250,0,0,0,63720,0,0,0,4462,0,0,2,418070,0,0,0,910,0,0,0,74616,0,0,0,35180,0,0 -17-43067682-T-C,17,43067682,rs1057519495,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1667Arg,p.Lys1667Arg,c.5000A>G,missense_variant,Conflicting interpretations of pathogenicity,375448,,13,1460202,0.000008902877821013806,0,0,nfe,0.00000576,23.5,0.586,0.290,-0.270,4.73,0.00,0.831,0,33440,0,0,0,44722,0,0,0,26130,0,0,0,39678,0,0,1,53398,0,0,0,5760,0,0,12,1110502,0,0,,,,,0,86222,0,0,0,60350,0,0 -17-43067683-T-C,17,43067683,rs80357204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1667Glu,p.Lys1667Glu,c.4999A>G,missense_variant,Uncertain significance,489727,,11,1459950,0.000007534504606322135,0,0,nfe,0.00000455,24.4,0.654,0.00,0.00,6.33,0.00,0.760,0,33428,0,0,0,44720,0,0,0,26130,0,0,0,39682,0,0,0,53404,0,0,1,5760,0,0,10,1110282,0,0,,,,,0,86214,0,0,0,60330,0,0 -17-43067684-G-A,17,43067684,rs730882165,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Tyr,p.Tyr1666Tyr,c.4998C>T,synonymous_variant,Likely benign,187169,,2,1459710,0.0000013701351638339122,0,0,eas,0.00000835,0.821,,0.230,-0.150,-0.0920,,,0,33428,0,0,0,44720,0,0,0,26132,0,0,2,39682,0,0,0,53402,0,0,0,5760,0,0,0,1110062,0,0,,,,,0,86204,0,0,0,60320,0,0 -17-43067684-G-GT,17,43067684,rs876658947,G,GT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Ter,p.Tyr1666Ter,c.4997dup,stop_gained,Pathogenic,231083,lof_flag,1,1459710,6.850675819169561e-7,0,0,,,34.0,,0.0900,-0.140,-0.0920,,,0,33428,0,0,0,44720,0,0,0,26132,0,0,1,39682,0,0,0,53402,0,0,0,5760,0,0,0,1110062,0,0,,,,,0,86204,0,0,0,60320,0,0 -17-43067685-T-C,17,43067685,rs397509216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Cys,p.Tyr1666Cys,c.4997A>G,missense_variant,Conflicting interpretations of pathogenicity,55352,,4,1459374,0.0000027409012357353222,0,0,amr,0.00001779,24.0,0.552,0.0200,-0.0300,2.29,0.00,0.647,0,33414,0,0,3,44722,0,0,0,26126,0,0,0,39680,0,0,0,53402,0,0,0,5758,0,0,1,1109764,0,0,,,,,0,86204,0,0,0,60304,0,0 -17-43067688-A-C,17,43067688,rs1476854015,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1665Gly,p.Val1665Gly,c.4994T>G,missense_variant,Likely benign,825350,,3,830434,0.0000036125688495413243,0,0,nfe,0.00000105,24.2,0.769,0.110,-0.0700,1.37,0.00,0.00300,0,15724,0,0,0,984,0,0,0,5144,0,0,0,3616,0,0,0,274,0,0,0,1616,0,0,3,759454,0,0,,,,,0,16400,0,0,0,27222,0,0 -17-43067689-C-A,17,43067689,rs80357169,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1665Leu,p.Val1665Leu,c.4993G>T,missense_variant,Uncertain significance,825349,,3,1610740,0.0000018624979822938525,0,0,sas,0.00000876,18.2,0.599,0.140,-0.170,4.95,0.00,0.00300,0,74812,0,0,0,59966,0,0,0,29588,0,0,0,44866,0,0,0,63986,0,0,0,6070,0,0,0,1177124,0,0,0,912,0,0,3,91020,0,0,0,62396,0,0 -17-43067689-C-G,17,43067689,rs80357169,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1665Leu,p.Val1665Leu,c.4993G>C,missense_variant,Conflicting interpretations of pathogenicity,479204,,1,152060,0.000006576351440220966,0,0,,,16.8,0.599,0.00,-0.0200,4.95,,,1,41408,0,0,0,15248,0,0,0,3470,0,0,0,5188,0,0,0,10594,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43067689-C-T,17,43067689,rs80357169,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1665Met,p.Val1665Met,c.4993G>A,missense_variant,Conflicting interpretations of pathogenicity,55350,,14,1458680,0.000009597718485205802,0,0,amr,0.000007410000000000001,19.3,0.581,0.150,-0.150,4.95,0.0200,0.0140,0,33404,0,0,2,44718,0,0,1,26118,0,0,0,39678,0,0,0,53392,0,0,0,5754,0,0,10,1109118,0,0,,,,,0,86194,0,0,1,60304,0,0 -17-43067690-G-A,17,43067690,rs142459158,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1664Leu,p.Leu1664Leu,c.4992C>T,synonymous_variant,Benign,136551,,163,1610376,0.00010121859739588767,0,0,afr,0.0016321199999999997,2.16,,0.160,-0.150,-0.359,,,141,74782,0,0,0,59962,0,0,0,29580,0,0,2,44858,0,0,1,63952,0,0,0,6070,0,0,8,1176892,0,0,0,912,0,0,6,90984,0,0,5,62384,0,0 -17-43067690-G-C,17,43067690,rs142459158,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1664Leu,p.Leu1664Leu,c.4992C>G,synonymous_variant,Likely benign,868505,,1,1458356,6.857036279207547e-7,0,0,,,0.628,,0.00,0.00,-0.359,,,0,33394,0,0,0,44718,0,0,0,26110,0,0,0,39668,0,0,0,53386,0,0,0,5754,0,0,0,1108868,0,0,,,,,0,86164,0,0,1,60294,0,0 -17-43067691-A-G,17,43067691,rs80357314,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1664Pro,p.Leu1664Pro,c.4991T>C,missense_variant,Benign,37621,,7,1610422,0.000004346686769058048,0,0,nfe,0.00000247,19.2,0.569,0.00,0.00,1.79,0.0200,0.00300,0,74830,0,0,0,59980,0,0,0,29590,0,0,0,44868,0,0,0,64000,0,0,0,6072,0,0,7,1176778,0,0,0,912,0,0,0,91002,0,0,0,62390,0,0 -17-43067692-G-A,17,43067692,rs1467535423,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1664Phe,p.Leu1664Phe,c.4990C>T,missense_variant,Likely benign,868502,,1,1457900,6.859181013786954e-7,0,0,,,20.0,0.616,0.0200,-0.0500,1.50,0.00,0.00100,0,33390,0,0,0,44716,0,0,0,26118,0,0,0,39674,0,0,0,53382,0,0,0,5758,0,0,0,1108406,0,0,,,,,1,86170,0,0,0,60286,0,0 -17-43067693-C-A,17,43067693,rs748807039,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Ile,p.Met1663Ile,c.4989G>T,missense_variant,not provided,868099,,2,1457624,0.000001372095958902982,0,0,,,19.3,0.559,0.0300,-0.0200,1.06,0.0200,0.00100,0,33382,0,0,0,44716,0,0,0,26110,0,0,0,39666,0,0,0,53382,0,0,0,5752,0,0,0,1108180,0,0,,,,,0,86170,0,0,2,60266,0,0 -17-43067694-A-G,17,43067694,rs80357205,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1663Thr,p.Met1663Thr,c.4988T>C,missense_variant,Uncertain significance,868095,,1,152158,0.000006572115826969334,0,0,,,15.5,0.534,0.0900,-0.100,0.139,,,1,41432,0,0,0,15268,0,0,0,3468,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43067694-A-T,17,43067694,rs80357205,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Lys,p.Met1663Lys,c.4988T>A,missense_variant,Uncertain significance,55349,,12,1457250,0.000008234688625836336,0,0,nfe,0.00000382,22.9,0.629,0.370,-0.370,0.139,0.00,0.00100,0,33380,0,0,0,44712,0,0,0,26110,0,0,0,39662,0,0,0,53390,0,0,0,5750,0,0,9,1107838,0,0,,,,,0,86156,0,0,3,60252,0,0 -17-43067695-T-C,17,43067695,rs80357117,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Val,p.Met1663Val,c.4987A>G,missense_variant,not provided,868094,,1,628602,0.0000015908317186391388,0,0,,,7.09,0.499,0.00,0.00,-0.0970,0.210,0.00,0,17692,0,0,0,43736,0,0,0,20976,0,0,0,36058,0,0,1,53116,0,0,0,4140,0,0,0,350004,0,0,,,,,0,69792,0,0,0,33088,0,0 -17-43067696-C-A,17,43067696,rs730881495,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-1G>T,,c.4987-1G>T,splice_acceptor_variant,Pathogenic,267565,,1,828264,0.0000012073445181729497,0,0,,,28.7,,0.730,-0.830,8.86,,,0,15678,0,0,0,974,0,0,0,5128,0,0,0,3602,0,0,0,274,0,0,0,1612,0,0,1,757466,0,0,,,,,0,16360,0,0,0,27170,0,0 -17-43067699-A-C,17,43067699,rs1157151499,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-4T>G,,c.4987-4T>G,splice_region_variant,Benign/Likely benign,489726,,7,1601688,0.000004370389239352483,0,0,nfe,0.00000249,12.9,,0.0500,-0.100,2.89,,,0,74624,0,0,0,59966,0,0,0,29528,0,0,0,44814,0,0,0,63968,0,0,0,6044,0,0,7,1168902,0,0,0,910,0,0,0,90822,0,0,0,62110,0,0 -17-43067704-A-G,17,43067704,rs2052193720,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-9T>C,,c.4987-9T>C,intron_variant,not provided,868091,,1,1449648,6.898226328046532e-7,0,0,,,21.0,,0.0600,-0.0800,4.68,,,0,33180,0,0,0,44692,0,0,0,26070,0,0,0,39630,0,0,0,53366,0,0,0,5718,0,0,1,1100982,0,0,,,,,0,85998,0,0,0,60012,0,0 -17-43067706-A-T,17,43067706,rs80358170,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-11T>A,,c.4987-11T>A,intron_variant,Likely benign,1588147,,1,1448518,6.903607687305232e-7,0,0,,,22.5,,0.310,-0.340,2.25,,,0,33162,0,0,0,44692,0,0,0,26060,0,0,0,39618,0,0,0,53366,0,0,0,5710,0,0,0,1099952,0,0,,,,,0,85980,0,0,1,59978,0,0 -17-43067706-A-G,17,43067706,rs80358170,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-11T>C,,c.4987-11T>C,intron_variant,Conflicting interpretations of pathogenicity,125740,,10,1600650,0.000006247461968575267,0,0,nfe,0.00000433,21.3,,0.260,-0.210,2.25,,,0,74596,0,0,0,59954,0,0,0,29530,0,0,0,44810,0,0,0,63974,0,0,0,6026,0,0,10,1167968,0,0,0,912,0,0,0,90810,0,0,0,62070,0,0 -17-43067708-C-A,17,43067708,rs1414317416,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-13G>T,,c.4987-13G>T,intron_variant,Likely benign,1122375,,2,1595734,0.0000012533417223672617,0,0,,,5.05,,0.00,0.00,-0.611,,,1,74428,0,0,0,59926,0,0,0,29492,0,0,0,44768,0,0,0,63902,0,0,0,6000,0,0,0,1163754,0,0,0,910,0,0,1,90660,0,0,0,61894,0,0 -17-43067710-AAT-A,17,43067710,rs1401288616,AAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-17_4987-16del,,c.4987-17_4987-16del,intron_variant,,,,1,152142,0.000006572806982950139,0,0,,,15.0,,0.120,-0.0500,0.701,,,1,41430,0,0,0,15262,0,0,0,3470,0,0,0,5192,0,0,0,10602,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43067711-A-C,17,43067711,rs773821829,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-16T>G,,c.4987-16T>G,intron_variant,Likely pathogenic,1713197,,1,1439476,6.946972370501488e-7,0,0,,,22.7,,0.680,-0.730,2.31,,,0,32964,0,0,0,44678,0,0,0,25990,0,0,0,39580,0,0,0,53324,0,0,0,5626,0,0,1,1091848,0,0,,,,,0,85782,0,0,0,59684,0,0 -17-43067711-A-G,17,43067711,rs773821829,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-16T>C,,c.4987-16T>C,intron_variant,Likely benign,1084731,,4,1439476,0.0000027787889482005953,0,0,nfe,8.6e-7,18.3,,0.140,-0.140,2.31,,,0,32964,0,0,0,44678,0,0,0,25990,0,0,0,39580,0,0,0,53324,0,0,0,5626,0,0,4,1091848,0,0,,,,,0,85782,0,0,0,59684,0,0 -17-43067714-T-G,17,43067714,rs1175825700,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-19A>C,,c.4987-19A>C,intron_variant,Likely benign,2106272,,2,1589950,0.0000012579011918613792,0,0,,,4.60,,0.0100,0.00,-3.04,,,0,74354,0,0,0,59936,0,0,0,29454,0,0,1,44762,0,0,0,63926,0,0,0,5938,0,0,1,1158400,0,0,0,912,0,0,0,90552,0,0,0,61716,0,0 -17-43067715-T-G,17,43067715,rs80358035,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-20A>C,,c.4987-20A>C,intron_variant,Likely benign,762202,,2,1584398,0.0000012623090915287699,0,0,,,11.3,,0.0200,0.00,-0.0300,,,2,74198,0,0,0,59930,0,0,0,29426,0,0,0,44720,0,0,0,63866,0,0,0,5900,0,0,0,1153474,0,0,0,912,0,0,0,90444,0,0,0,61528,0,0 -17-43067715-T-C,17,43067715,rs80358035,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-20A>G,,c.4987-20A>G,intron_variant,Benign,91635,,751,1584512,0.00047396296146700055,5,0,afr,0.008411079999999996,13.4,,0.0700,-0.0400,-0.0300,,,667,74316,5,0,27,59950,0,0,0,29426,0,0,0,44708,0,0,0,63866,0,0,2,5878,0,0,4,1153466,0,0,0,912,0,0,2,90440,0,0,49,61550,0,0 -17-43067716-C-A,17,43067716,rs1423988232,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-21G>T,,c.4987-21G>T,intron_variant,,,,1,1432366,6.981455856952762e-7,0,0,,,9.61,,0.00,0.00,-0.135,,,0,32782,0,0,0,44674,0,0,0,25956,0,0,0,39526,0,0,1,53282,0,0,0,5582,0,0,0,1085520,0,0,,,,,0,85616,0,0,0,59428,0,0 -17-43067716-C-T,17,43067716,rs1423988232,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-21G>A,,c.4987-21G>A,intron_variant,,,,1,1432368,6.981446108821197e-7,0,0,,,10.3,,0.00,0.00,-0.135,,,0,32782,0,0,0,44674,0,0,0,25956,0,0,0,39526,0,0,0,53282,0,0,0,5582,0,0,1,1085520,0,0,,,,,0,85618,0,0,0,59428,0,0 -17-43067717-C-T,17,43067717,rs2153722133,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-22G>A,,c.4987-22G>A,intron_variant,,,,6,801914,0.00000748209907795599,0,0,nfe,0.00000294,7.49,,0.0800,-0.0500,-0.130,,,0,15058,0,0,0,938,0,0,0,4970,0,0,0,3476,0,0,0,266,0,0,0,1558,0,0,6,733588,0,0,,,,,0,15780,0,0,0,26280,0,0 -17-43067724-A-G,17,43067724,rs994608035,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-29T>C,,c.4987-29T>C,intron_variant,,,,2,1394556,0.0000014341482163498633,0,0,afr,0.00001036,12.4,,0.0500,-0.0300,0.485,,,2,31970,0,0,0,44618,0,0,0,25708,0,0,0,39290,0,0,0,53108,0,0,0,5374,0,0,0,1051654,0,0,,,,,0,84708,0,0,0,58126,0,0 -17-43067726-G-C,17,43067726,rs1466721291,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-31C>G,,c.4987-31C>G,intron_variant,,,,1,1388158,7.203790922935286e-7,0,0,,,6.24,,0.00,0.00,0.705,,,0,31866,0,0,0,44592,0,0,0,25646,0,0,0,39216,0,0,0,52998,0,0,0,5328,0,0,1,1046014,0,0,,,,,0,84588,0,0,0,57910,0,0 -17-43067727-A-G,17,43067727,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-32T>C,,c.4987-32T>C,intron_variant,,,,1,626562,0.0000015960112486872808,0,0,,,12.7,,0.0100,0.00,1.43,,,0,17656,0,0,0,43686,0,0,0,20920,0,0,0,35982,0,0,0,52708,0,0,0,3816,0,0,1,349116,0,0,,,,,0,69718,0,0,0,32960,0,0 -17-43067728-G-A,17,43067728,rs367645566,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-33C>T,,c.4987-33C>T,intron_variant,Uncertain significance,433720,,35,1528136,0.000022903720611254496,0,0,nfe,0.00002098,9.44,,0.0100,-0.0100,0.179,,,0,72914,0,0,0,59792,0,0,0,29012,0,0,0,44306,0,0,0,63398,0,0,0,5580,0,0,32,1103476,0,0,0,912,0,0,0,89174,0,0,3,59572,0,0 -17-43067729-T-C,17,43067729,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-34A>G,,c.4987-34A>G,intron_variant,,,,1,750406,0.0000013326119460665292,0,0,,,14.8,,0.0600,-0.0400,0.472,,,0,13972,0,0,0,872,0,0,0,4632,0,0,0,3182,0,0,0,258,0,0,0,1444,0,0,1,686820,0,0,,,,,0,14656,0,0,0,24570,0,0 -17-43067731-A-G,17,43067731,rs776992322,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-36T>C,,c.4987-36T>C,intron_variant,,,,1,1355740,7.376045554457344e-7,0,0,,,13.5,,0.0400,-0.0100,0.720,,,0,31200,0,0,1,44534,0,0,0,25434,0,0,0,39054,0,0,0,52904,0,0,0,5174,0,0,0,1016748,0,0,,,,,0,83910,0,0,0,56782,0,0 -17-43067733-C-G,17,43067733,rs759950362,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-38G>C,,c.4987-38G>C,intron_variant,,,,1,151932,0.0000065818918990074505,0,0,,,5.04,,0.00,0.0100,0.778,,,0,41344,0,0,0,15252,0,0,0,3468,0,0,0,5186,0,0,0,10548,0,0,0,316,0,0,1,67992,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 -17-43067737-A-G,17,43067737,rs1304323890,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-42T>C,,c.4987-42T>C,intron_variant,,,,3,625478,0.000004796331765465772,0,0,amr,0.00001823,4.76,,0.0200,-0.0200,0.494,,,0,17604,0,0,3,43652,0,0,0,20890,0,0,0,35938,0,0,0,52508,0,0,0,3698,0,0,0,348670,0,0,,,,,0,69648,0,0,0,32870,0,0 -17-43067738-G-A,17,43067738,rs765728864,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-43C>T,,c.4987-43C>T,intron_variant,,,,4,1471962,0.0000027174614562060706,0,0,,,5.62,,0.00,0.00,1.10,,,0,71674,0,0,0,59548,0,0,0,28608,0,0,0,43960,0,0,3,62872,0,0,0,5338,0,0,1,1053376,0,0,0,910,0,0,0,87958,0,0,0,57718,0,0 -17-43067738-G-T,17,43067738,rs765728864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-43C>A,,c.4987-43C>A,intron_variant,,,,2,1320430,0.00000151465810379952,0,0,nfe,3.399999999999999e-7,5.86,,0.00,0.00,1.10,,,0,30454,0,0,0,44368,0,0,0,25140,0,0,0,38800,0,0,0,52464,0,0,0,5022,0,0,2,985414,0,0,,,,,0,83136,0,0,0,55632,0,0 -17-43067740-A-T,17,43067740,rs186304766,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-45T>A,,c.4987-45T>A,intron_variant,,,,5,1468376,0.00000340512239371932,0,0,amr,0.000022650000000000005,9.28,,0.0400,-0.0400,0.759,,,0,71854,0,0,4,59618,0,0,0,28618,0,0,0,43974,0,0,0,63128,0,0,0,5298,0,0,0,1049514,0,0,0,912,0,0,0,87848,0,0,1,57612,0,0 -17-43067741-C-T,17,43067741,rs2153723117,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-46G>A,,c.4987-46G>A,intron_variant,,,,2,1305112,0.0000015324355304372345,0,0,,,1.17,,0.00,0.00,-0.979,,,0,30120,0,0,0,44324,0,0,0,25076,0,0,1,38724,0,0,0,52440,0,0,0,4956,0,0,1,971650,0,0,,,,,0,82760,0,0,0,55062,0,0 -17-43067742-A-G,17,43067742,rs2153723157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-47T>C,,c.4987-47T>C,intron_variant,,,,1,1293362,7.731787388217684e-7,0,0,,,8.62,,0.0200,-0.0200,0.179,,,0,29896,0,0,0,44308,0,0,0,25028,0,0,1,38668,0,0,0,52408,0,0,0,4908,0,0,0,960900,0,0,,,,,0,82550,0,0,0,54696,0,0 -17-43067743-C-G,17,43067743,rs1035013269,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-48G>C,,c.4987-48G>C,intron_variant,,,,1,1291750,7.741436036384749e-7,0,0,,,0.740,,0.0200,-0.0100,-0.864,,,0,29864,0,0,0,44260,0,0,0,25012,0,0,0,38646,0,0,1,52342,0,0,0,4910,0,0,0,959580,0,0,,,,,0,82534,0,0,0,54602,0,0 -17-43067743-C-T,17,43067743,rs1035013269,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-48G>A,,c.4987-48G>A,intron_variant,,,,1,1291748,7.741448022369688e-7,0,0,,,0.811,,0.00,0.00,-0.864,,,0,29864,0,0,0,44260,0,0,0,25012,0,0,0,38646,0,0,1,52342,0,0,0,4910,0,0,0,959578,0,0,,,,,0,82534,0,0,0,54602,0,0 -17-43067744-A-G,17,43067744,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-49T>C,,c.4987-49T>C,intron_variant,,,,1,638716,0.000001565641067391454,0,0,,,6.97,,0.0300,-0.0200,0.517,,,0,11718,0,0,0,716,0,0,0,4010,0,0,0,2684,0,0,0,196,0,0,0,1272,0,0,1,584802,0,0,,,,,0,12460,0,0,0,20858,0,0 -17-43067746-C-T,17,43067746,rs2153723324,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-51G>A,,c.4987-51G>A,intron_variant,,,,2,1240514,0.0000016122349284248303,0,0,,,0.371,,0.00,0.00,-0.243,,,1,28838,0,0,0,44162,0,0,0,24722,0,0,1,38366,0,0,0,52086,0,0,0,4748,0,0,0,913062,0,0,,,,,0,81610,0,0,0,52920,0,0 -17-43067748-C-T,17,43067748,rs2153723422,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-53G>A,,c.4987-53G>A,intron_variant,Likely benign,1285199,,18,1237076,0.000014550439908299895,0,0,nfe,0.00001235,1.35,,0.00,0.0100,-0.102,,,0,28696,0,0,0,44072,0,0,0,24590,0,0,0,38120,0,0,0,51752,0,0,0,4726,0,0,18,910986,0,0,,,,,0,81510,0,0,0,52624,0,0 -17-43067750-G-T,17,43067750,rs2153723503,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-55C>A,,c.4987-55C>A,intron_variant,,,,1,1210578,8.260516877062031e-7,0,0,,,1.96,,0.00,0.0100,-0.0760,,,0,28108,0,0,0,43800,0,0,0,24234,0,0,0,37710,0,0,1,51068,0,0,0,4602,0,0,0,888402,0,0,,,,,0,80988,0,0,0,51666,0,0 -17-43067753-T-C,17,43067753,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-58A>G,,c.4987-58A>G,intron_variant,,,,2,1189270,0.0000016817039023939056,0,0,amr,0.00000755,0.669,,0.00,0.00,-0.894,,,0,27790,0,0,2,43906,0,0,0,24370,0,0,0,38106,0,0,0,51748,0,0,0,4522,0,0,0,867222,0,0,,,,,0,80368,0,0,0,51238,0,0 -17-43067753-T-A,17,43067753,rs2153723637,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-58A>T,,c.4987-58A>T,intron_variant,,,,1,1189270,8.408519511969528e-7,0,0,,,0.561,,0.00,-0.0100,-0.894,,,0,27790,0,0,0,43906,0,0,0,24370,0,0,0,38106,0,0,0,51748,0,0,0,4522,0,0,1,867222,0,0,,,,,0,80368,0,0,0,51238,0,0 -17-43067755-C-T,17,43067755,rs2153723723,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-60G>A,,c.4987-60G>A,intron_variant,,,,1,614984,0.0000016260585641252455,0,0,,,1.02,,0.00,0.00,0.0720,,,0,17302,0,0,0,43080,0,0,0,20594,0,0,0,35288,0,0,0,50898,0,0,0,3286,0,0,1,343104,0,0,,,,,0,69206,0,0,0,32226,0,0 -17-43067756-T-C,17,43067756,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-61A>G,,c.4987-61A>G,intron_variant,,,,2,1169618,0.0000017099600040355056,0,0,,,7.69,,0.00,0.00,0.316,,,0,27326,0,0,0,43834,0,0,1,24298,0,0,0,38046,0,0,0,51596,0,0,0,4428,0,0,0,849478,0,0,,,,,0,79990,0,0,1,50622,0,0 -17-43067758-G-C,17,43067758,rs2052197985,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-63C>G,,c.4987-63C>G,intron_variant,,,,11,1294328,0.000008498618588178577,0,0,nfe,0.00000563,0.370,,0.00,0.00,-0.274,,,0,67638,0,0,0,58452,0,0,0,27046,0,0,0,42004,0,0,0,60026,0,0,0,4594,0,0,10,897864,0,0,0,910,0,0,0,84396,0,0,1,51398,0,0 -17-43067759-T-C,17,43067759,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-64A>G,,c.4987-64A>G,intron_variant,,,,6,1143168,0.000005248572388310379,0,0,nfe,0.0000026100000000000004,5.48,,0.00,-0.0200,-0.385,,,0,26824,0,0,0,43648,0,0,0,24050,0,0,0,37804,0,0,0,51142,0,0,0,4314,0,0,6,826254,0,0,,,,,0,79388,0,0,0,49744,0,0 -17-43067761-A-AT,17,43067761,,A,AT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-67dup,,c.4987-67dup,intron_variant,,,,1,151536,0.0000065990919649456235,0,0,,,1.28,,0.00,0.0200,0.441,,,0,41268,0,0,0,15202,0,0,0,3464,0,0,0,5134,0,0,0,10430,0,0,1,290,0,0,0,67934,0,0,0,908,0,0,0,4800,0,0,0,2106,0,0 -17-43067763-T-C,17,43067763,rs8176234,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-68A>G,,c.4987-68A>G,intron_variant,Benign,125746,,413426,1221538,0.33844710520671484,72491,0,sas,0.49277931999999974,0.133,,0.0100,0.0200,-0.200,,,15566,66818,1837,0,18796,58246,3053,0,9919,27024,1805,0,15061,42456,2726,0,23871,60284,4703,0,1594,4280,319,0,270607,829700,44628,0,258,908,40,0,40961,82448,10463,0,16793,49374,2917,0 -17-43067765-C-T,17,43067765,rs1014146864,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-70G>A,,c.4987-70G>A,intron_variant,Uncertain significance,433719,,27,1177800,0.00002292409577177789,0,0,nfe,0.00002052,0.292,,0.00,0.0100,-0.270,,,0,66144,0,0,0,58168,0,0,0,26726,0,0,0,42236,0,0,0,59510,0,0,0,4144,0,0,24,791000,0,0,0,912,0,0,0,81088,0,0,3,47872,0,0 -17-43067766-A-G,17,43067766,rs34613393,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-71T>C,,c.4987-71T>C,intron_variant,,,,1,151160,0.000006615506747816882,0,0,,,5.69,,0.00,-0.0100,0.441,,,0,41128,0,0,1,15136,0,0,0,3466,0,0,0,5128,0,0,0,10340,0,0,0,314,0,0,0,67882,0,0,0,910,0,0,0,4772,0,0,0,2084,0,0 -17-43067766-A-T,17,43067766,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-71T>A,,c.4987-71T>A,intron_variant,,,,1,1006778,9.932676319903692e-7,0,0,,,5.11,,0.00,-0.0100,0.441,,,0,24300,0,0,0,42582,0,0,0,22972,0,0,0,36516,0,0,0,48352,0,0,0,3694,0,0,1,707544,0,0,,,,,0,75910,0,0,0,44908,0,0 -17-43067768-C-T,17,43067768,rs2153724295,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-73G>A,,c.4987-73G>A,intron_variant,,,,10,1008406,0.000009916640718123454,0,0,nfe,0.00000598,0.881,,0.00,0.0100,0.563,,,0,24476,0,0,0,42752,0,0,0,23134,0,0,0,36900,0,0,0,48658,0,0,1,3726,0,0,9,707638,0,0,,,,,0,75914,0,0,0,45208,0,0 -17-43067770-T-C,17,43067770,rs775430301,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-75A>G,,c.4987-75A>G,intron_variant,,,,2,1136474,0.0000017598290853992261,0,0,,,2.81,,0.00,0.00,-0.360,,,1,64976,0,0,0,57400,0,0,0,26268,0,0,0,41484,0,0,0,58264,0,0,0,3920,0,0,0,756590,0,0,0,910,0,0,1,80394,0,0,0,46268,0,0 -17-43070853-C-T,17,43070853,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+75G>A,,c.4986+75G>A,intron_variant,,,,1,1360122,7.352281633559342e-7,0,0,,,0.460,,0.0200,0.0200,-1.33,,,0,31364,0,0,0,44430,0,0,0,25490,0,0,0,39156,0,0,0,47352,0,0,0,5578,0,0,1,1025726,0,0,,,,,0,83864,0,0,0,57162,0,0 -17-43070854-A-C,17,43070854,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+74T>G,,c.4986+74T>G,intron_variant,,,,46,743952,0.00006183194614706326,0,0,sas,0.00009389999999999991,4.77,,0.0500,0.0700,0.979,,,1,13804,0,0,0,888,0,0,0,4582,0,0,0,3150,0,0,1,238,0,0,1,1446,0,0,38,680994,0,0,,,,,4,14532,0,0,1,24318,0,0 -17-43070855-A-G,17,43070855,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>C,,c.4986+73T>C,intron_variant,,,,1,1367140,7.314539842298521e-7,0,0,,,2.64,,0.0100,0.0100,0.747,,,0,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,0,47804,0,0,0,5588,0,0,1,1031540,0,0,,,,,0,84050,0,0,0,57448,0,0 -17-43070855-A-T,17,43070855,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>A,,c.4986+73T>A,intron_variant,,,,1,1367140,7.314539842298521e-7,0,0,,,2.58,,0.0600,0.0400,0.747,,,0,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,0,47804,0,0,0,5588,0,0,0,1031540,0,0,,,,,1,84050,0,0,0,57448,0,0 -17-43070855-A-C,17,43070855,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>G,,c.4986+73T>G,intron_variant,,,,46,1367080,0.000033648360008192643,0,0,nfe,0.0000283,2.31,,0.00,0.00,0.747,,,1,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,1,47804,0,0,1,5588,0,0,39,1031482,0,0,,,,,3,84050,0,0,1,57446,0,0 -17-43070861-A-T,17,43070861,rs2153798466,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+67T>A,,c.4986+67T>A,intron_variant,,,,1,769976,0.0000012987417789645392,0,0,,,8.69,,0.320,0.250,1.15,,,0,14412,0,0,0,920,0,0,0,4740,0,0,0,3280,0,0,0,248,0,0,1,1514,0,0,0,704490,0,0,,,,,0,15116,0,0,0,25256,0,0 -17-43070863-A-G,17,43070863,rs2052348287,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+65T>C,,c.4986+65T>C,intron_variant,,,,1,152228,0.000006569093727829309,0,0,,,5.58,,0.0100,0.0100,0.477,,,0,41462,0,0,0,15288,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,1,4834,0,0,0,2094,0,0 -17-43070864-T-C,17,43070864,rs887852003,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+64A>G,,c.4986+64A>G,intron_variant,,,,1,793814,0.0000012597409468716853,0,0,,,3.95,,0.00,0.00,-0.880,,,1,14872,0,0,0,940,0,0,0,4886,0,0,0,3408,0,0,0,260,0,0,0,1566,0,0,0,726220,0,0,,,,,0,15606,0,0,0,26056,0,0 -17-43070865-A-G,17,43070865,rs2153798701,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+63T>C,,c.4986+63T>C,intron_variant,,,,1,795680,0.0000012567866478986528,0,0,,,13.9,,0.0800,0.0900,0.841,,,0,14908,0,0,0,942,0,0,0,4902,0,0,0,3414,0,0,0,262,0,0,0,1568,0,0,1,727960,0,0,,,,,0,15652,0,0,0,26072,0,0 -17-43070866-A-G,17,43070866,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+62T>C,,c.4986+62T>C,intron_variant,,,,1,1423440,7.025234642837071e-7,0,0,,,15.3,,0.0100,0.0100,0.0520,,,0,32652,0,0,0,44664,0,0,0,25902,0,0,0,39484,0,0,0,49962,0,0,0,5712,0,0,1,1080408,0,0,,,,,0,85434,0,0,0,59222,0,0 -17-43070866-A-T,17,43070866,rs2153798760,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+62T>A,,c.4986+62T>A,intron_variant,,,,2,1423440,0.0000014050469285674141,0,0,nfe,3.1e-7,14.9,,0.00,0.00,0.0520,,,0,32652,0,0,0,44664,0,0,0,25902,0,0,0,39484,0,0,0,49962,0,0,0,5712,0,0,2,1080408,0,0,,,,,0,85434,0,0,0,59222,0,0 -17-43070868-ACT-A,17,43070868,,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+58_4986+59del,,c.4986+58_4986+59del,intron_variant,,,,2,625452,0.000003197687432448853,0,0,,,5.55,,0.00,0.0100,1.40,,,1,17690,0,0,0,43722,0,0,0,20984,0,0,0,36066,0,0,0,49996,0,0,0,4146,0,0,0,350030,0,0,,,,,0,69752,0,0,1,33066,0,0 -17-43070874-T-C,17,43070874,rs926292653,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+54A>G,,c.4986+54A>G,intron_variant,,,,29,1591500,0.000018221803330191644,0,0,nfe,0.00001751,13.9,,0.0200,0.00,1.27,,,0,74426,0,0,0,59962,0,0,0,29466,0,0,0,44792,0,0,0,61696,0,0,0,6060,0,0,29,1161800,0,0,0,912,0,0,0,90604,0,0,0,61782,0,0 -17-43070875-C-G,17,43070875,rs937716188,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+53G>C,,c.4986+53G>C,intron_variant,,,,4,1594678,0.0000025083433771582727,0,0,amr,0.00000553,3.33,,0.00,0.0100,0.404,,,1,74478,0,0,2,59954,0,0,0,29496,0,0,0,44800,0,0,0,61782,0,0,0,6060,0,0,1,1164650,0,0,0,912,0,0,0,90646,0,0,0,61900,0,0 -17-43070875-C-T,17,43070875,rs937716188,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+53G>A,,c.4986+53G>A,intron_variant,,,,1,152168,0.000006571683928289785,0,0,,,3.92,,0.0100,0.00,0.404,,,0,41446,0,0,1,15256,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43070878-G-A,17,43070878,rs1199462733,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+50C>T,,c.4986+50C>T,intron_variant,,,,30,1596636,0.000018789504934123995,0,0,nfe,0.00001825,8.52,,0.0200,0.00,0.432,,,0,74558,0,0,0,59960,0,0,0,29510,0,0,0,44808,0,0,0,62180,0,0,0,6060,0,0,30,1166006,0,0,0,910,0,0,0,90676,0,0,0,61968,0,0 -17-43070880-ATGT-A,17,43070880,,ATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+45_4986+47del,,c.4986+45_4986+47del,intron_variant,,,,1,627100,0.0000015946420028703556,0,0,,,8.05,,0.00,0.0100,0.327,,,0,17692,0,0,0,43736,0,0,0,20984,0,0,0,36070,0,0,0,51522,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69784,0,0,0,33082,0,0 -17-43070880-A-C,17,43070880,rs776015621,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+48T>G,,c.4986+48T>G,intron_variant,,,,1,152194,0.000006570561257342603,0,0,,,12.6,,0.0100,0.00,0.327,,,0,41462,0,0,0,15266,0,0,0,3472,0,0,1,5202,0,0,0,10618,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43070885-G-C,17,43070885,rs1292888846,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+43C>G,,c.4986+43C>G,intron_variant,,,,1,627426,0.0000015938134536981253,0,0,,,8.44,,0.0200,0.00,0.110,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,51842,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33084,0,0 -17-43070887-T-C,17,43070887,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+41A>G,,c.4986+41A>G,intron_variant,,,,1,826038,0.00000121059805965343,0,0,,,4.47,,0.0700,0.0600,0.501,,,0,15610,0,0,0,976,0,0,0,5106,0,0,0,3586,0,0,0,272,0,0,0,1612,0,0,1,755516,0,0,,,,,0,16286,0,0,0,27074,0,0 -17-43070888-A-C,17,43070888,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+40T>G,,c.4986+40T>G,intron_variant,,,,1,627722,0.0000015930618968269393,0,0,,,15.8,,0.290,0.140,-0.00900,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,52120,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69792,0,0,0,33086,0,0 -17-43070889-A-G,17,43070889,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+39T>C,,c.4986+39T>C,intron_variant,,,,1,627762,0.000001592960389446956,0,0,,,12.4,,0.0400,0.0200,-0.437,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52158,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33088,0,0 -17-43070890-G-A,17,43070890,rs2153799824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+38C>T,,c.4986+38C>T,intron_variant,,,,3,1454860,0.000002062054080805026,0,0,nfe,7.200000000000001e-7,10.0,,0.0100,0.00,0.525,,,0,33336,0,0,0,44716,0,0,0,26106,0,0,0,39668,0,0,0,52456,0,0,0,5764,0,0,3,1106536,0,0,,,,,0,86106,0,0,0,60172,0,0 -17-43070893-T-C,17,43070893,rs764256814,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+35A>G,,c.4986+35A>G,intron_variant,,,,3,780262,0.000003844862366743478,0,0,nfe,0.0000019100000000000003,11.2,,0.00,0.0300,0.838,,,0,59146,0,0,0,59022,0,0,0,24454,0,0,0,41268,0,0,0,63060,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74628,0,0,0,35180,0,0 -17-43070894-T-C,17,43070894,rs1408877197,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+34A>G,,c.4986+34A>G,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,3.81,,0.0400,0.0500,-0.264,,,1,41450,0,0,0,15272,0,0,0,3472,0,0,0,5202,0,0,0,10632,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43070899-A-C,17,43070899,rs1220510188,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+29T>G,,c.4986+29T>G,intron_variant,,,,3,780528,0.000003843552057069061,0,0,sas,0.00001067,10.3,,0.0400,0.110,0.393,,,0,59148,0,0,0,59012,0,0,0,24456,0,0,0,41274,0,0,0,63310,0,0,0,4464,0,0,0,418142,0,0,0,912,0,0,3,74628,0,0,0,35182,0,0 -17-43070903-G-A,17,43070903,rs1259321900,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+25C>T,,c.4986+25C>T,intron_variant,,,,70,1460044,0.00004794376059899565,0,0,nfe,0.00004905,1.18,,0.0100,0.0100,-0.603,,,0,33428,0,0,0,44724,0,0,0,26122,0,0,0,39696,0,0,0,53006,0,0,0,5766,0,0,68,1110746,0,0,,,,,0,86212,0,0,2,60344,0,0 -17-43070904-G-A,17,43070904,rs2052350040,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+24C>T,,c.4986+24C>T,intron_variant,,,,5,1460368,0.00000342379455041469,0,0,nfe,8.4e-7,11.4,,0.0200,0.0100,0.594,,,0,33436,0,0,0,44724,0,0,0,26126,0,0,0,39700,0,0,0,53030,0,0,0,5764,0,0,4,1111020,0,0,,,,,1,86220,0,0,0,60348,0,0 -17-43070905-G-C,17,43070905,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+23C>G,,c.4986+23C>G,intron_variant,,,,1,628376,0.000001591403872840465,0,0,,,14.8,,0.0700,0.0500,0.317,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52758,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69796,0,0,0,33092,0,0 -17-43070907-G-A,17,43070907,rs1437706820,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+21C>T,,c.4986+21C>T,intron_variant,,,,2,780606,0.0000025621120001639753,0,0,,,11.2,,0.0300,0.00,0.561,,,1,59142,0,0,0,59006,0,0,0,24454,0,0,0,41270,0,0,0,63432,0,0,0,4460,0,0,0,418134,0,0,0,912,0,0,1,74616,0,0,0,35180,0,0 -17-43070907-G-C,17,43070907,rs1437706820,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+21C>G,,c.4986+21C>G,intron_variant,,,,1,628436,0.000001591251933371099,0,0,,,11.6,,0.0900,0.0400,0.561,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52818,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69796,0,0,0,33090,0,0 -17-43070909-T-C,17,43070909,rs751693860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+19A>G,,c.4986+19A>G,intron_variant,Likely benign,491091,,1,628518,0.0000015910443296771136,0,0,,,2.16,,0.0300,0.0200,-2.54,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,52894,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43070911-C-T,17,43070911,rs1555580584,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+17G>A,,c.4986+17G>A,intron_variant,Likely benign,462657,,3,832802,0.0000036022968244552727,0,0,nfe,0.00000105,3.37,,0.0400,0.00,-1.13,,,0,15774,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,3,761624,0,0,,,,,0,16458,0,0,0,27288,0,0 -17-43070913-T-C,17,43070913,rs1057520602,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+15A>G,,c.4986+15A>G,intron_variant,Likely benign,379464,,1,628570,0.0000015909127066197878,0,0,,,9.16,,0.0300,-0.0300,-0.335,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,52942,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43070915-T-C,17,43070915,rs5031012,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+13A>G,,c.4986+13A>G,intron_variant,Conflicting interpretations of pathogenicity,578343,,13,780818,0.00001664920634514061,0,0,afr,0.00010342999999999999,14.0,,0.870,0.510,-0.615,,,11,59148,0,0,0,59024,0,0,0,24454,0,0,0,41276,0,0,0,63594,0,0,0,4462,0,0,0,418138,0,0,0,912,0,0,0,74622,0,0,2,35188,0,0 -17-43070915-T-A,17,43070915,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+13A>T,,c.4986+13A>T,intron_variant,,,,1,628602,0.0000015908317186391388,0,0,,,9.27,,0.350,0.260,-0.615,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43070916-G-A,17,43070916,rs1483380186,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+12C>T,,c.4986+12C>T,intron_variant,Likely benign,1139713,,1,628558,0.000001590943079238511,0,0,,,7.44,,0.00,0.00,-0.00800,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52926,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69796,0,0,0,33096,0,0 -17-43070917-G-A,17,43070917,rs1597830101,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+11C>T,,c.4986+11C>T,intron_variant,,,,1,1461566,6.841976345919377e-7,0,0,,,9.59,,0.00,0.00,0.597,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53232,0,0,0,5768,0,0,1,1111892,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43070919-T-A,17,43070919,rs1567774286,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+9A>T,,c.4986+9A>T,intron_variant,Likely benign,630795,,1,628646,0.0000015907203736284014,0,0,,,2.76,,0.00,0.00,-2.42,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53012,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070922-A-G,17,43070922,rs80358086,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+6T>C,,c.4986+6T>C,intron_variant,Pathogenic/Likely pathogenic,37620,,3,985268,0.0000030448568308318145,0,0,,,23.2,,0.520,-0.570,6.19,,,2,57230,0,0,0,16264,0,0,0,8622,0,0,0,8830,0,0,0,10890,0,0,0,1934,0,0,1,829912,0,0,0,912,0,0,0,21284,0,0,0,29390,0,0 -17-43070924-T-A,17,43070924,rs80358087,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+4A>T,,c.4986+4A>T,intron_variant,Pathogenic/Likely pathogenic,55342,,1,628680,0.0000015906343449767767,0,0,,,26.7,,0.810,-0.720,6.35,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53048,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070926-A-G,17,43070926,rs397509210,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+2T>C,,c.4986+2T>C,splice_donor_variant,Pathogenic,55340,,1,628688,0.0000015906141042933855,0,0,,,33.0,,0.990,-0.820,6.33,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53052,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43070929-A-G,17,43070929,rs28897695,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1662Ser,p.Phe1662Ser,c.4985T>C,missense_variant,Benign,55339,,21,1614022,0.00001301097506725435,0,0,eas,0.00024060999999999996,9.06,0.521,0.0100,0.00,0.331,0.570,0.0560,1,74928,0,0,1,60004,0,0,0,29608,0,0,17,44902,0,0,0,63964,0,0,0,6084,0,0,2,1180042,0,0,0,912,0,0,0,91090,0,0,0,62488,0,0 -17-43070929-A-C,17,43070929,rs28897695,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1662Cys,p.Phe1662Cys,c.4985T>G,missense_variant,Uncertain significance,868081,,4,1461804,0.0000027363449545903555,0,0,nfe,8.4e-7,19.2,0.523,0.270,0.0400,0.331,0.150,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53342,0,0,0,5768,0,0,4,1112000,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43070930-A-C,17,43070930,rs2052354206,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1662Val,p.Phe1662Val,c.4984T>G,missense_variant,not provided,865488,,1,628712,0.0000015905533853338253,0,0,,,10.2,0.500,0.100,0.0700,-0.519,0.540,0.0560,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53078,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43070931-TTCTTCTGGGGTCAGGCCAG-T,17,43070931,rs80359876,TTCTTCTGGGGTCAGGCCAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1655TyrfsTer16,p.Ser1655TyrfsTer16,c.4964_4982del,frameshift_variant,Pathogenic,37616,lof_flag,1,628714,0.0000015905483256297776,0,0,,,33.0,,0.0800,-0.120,1.51,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53076,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070933-C-T,17,43070933,rs80357401,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1661Lys,p.Glu1661Lys,c.4981G>A,missense_variant,Conflicting interpretations of pathogenicity,375447,,1,833108,0.0000012003245677631232,0,0,,,27.9,0.686,0.00,-0.0200,7.11,0.00,0.0330,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070935-T-C,17,43070935,rs2052356167,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1660Gly,p.Glu1660Gly,c.4979A>G,missense_variant,not provided,868471,,1,833106,0.0000012003274493281767,0,0,,,23.5,0.609,0.00,0.00,1.91,0.00,0.234,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070937-T-C,17,43070937,rs1131692087,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1659Pro,p.Pro1659Pro,c.4977A>G,synonymous_variant,Likely benign,868076,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,9.21,,0.0300,0.00,0.400,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070939-G-C,17,43070939,rs2052357870,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1659Ala,p.Pro1659Ala,c.4975C>G,missense_variant,not provided,865745,,1,833108,0.0000012003245677631232,0,0,,,12.6,0.556,0.0200,0.00,0.464,0.270,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070940-G-A,17,43070940,rs1555580615,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1658Thr,p.Thr1658Thr,c.4974C>T,synonymous_variant,Likely benign,491090,,1,628730,0.0000015905078491562355,0,0,,,5.17,,0.00,0.00,-0.309,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53094,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070941-G-T,17,43070941,rs1015073230,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1658Asn,p.Thr1658Asn,c.4973C>A,missense_variant,Conflicting interpretations of pathogenicity,630092,,3,1461844,0.0000020522025606015416,0,0,,,22.7,0.610,0.0100,0.00,4.11,0.260,0.700,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53374,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,3,60396,0,0 -17-43070943-C-G,17,43070943,rs786202058,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1657Leu,p.Leu1657Leu,c.4971G>C,synonymous_variant,Likely benign,219576,,1,628752,0.000001590452197368756,0,0,,,8.12,,0.00,0.0100,5.88,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53118,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43070946-G-C,17,43070946,rs2052360410,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1656Gly,p.Gly1656Gly,c.4968C>G,synonymous_variant,not provided,868881,,1,1461850,6.840647125218045e-7,0,0,,,9.32,,0.00,-0.0200,5.87,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53380,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43070946-G-A,17,43070946,rs2052360410,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1656Gly,p.Gly1656Gly,c.4968C>T,synonymous_variant,not provided,868882,,1,1461850,6.840647125218045e-7,0,0,,,9.70,,0.00,-0.0300,5.87,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53380,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43070952-C-T,17,43070952,rs549640262,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1654Val,p.Val1654Val,c.4962G>A,synonymous_variant,Likely benign,427359,,7,1614216,0.000004336470459963227,0,0,sas,0.00003586999999999999,0.698,,0.00,0.0100,-3.14,,,0,75048,0,0,0,60030,0,0,0,29608,0,0,0,44888,0,0,0,64030,0,0,0,6062,0,0,0,1180042,0,0,0,912,0,0,7,91086,0,0,0,62510,0,0 -17-43070953-A-G,17,43070953,rs1408104448,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1654Ala,p.Val1654Ala,c.4961T>C,missense_variant,not provided,865466,,2,1461874,0.0000013681069640748791,0,0,sas,0.00000385,18.0,0.518,0.00,0.00,3.29,1.00,0.0110,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53402,0,0,0,5768,0,0,0,1112010,0,0,,,,,2,86258,0,0,0,60396,0,0 -17-43070957-C-A,17,43070957,rs80357261,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1653Leu,p.Val1653Leu,c.4957G>T,missense_variant,Conflicting interpretations of pathogenicity,868874,,2,628770,0.000003180813333969496,0,0,eas,0.00000919,24.7,0.717,0.0100,0.0100,8.89,0.00,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36070,0,0,0,53132,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070958-C-T,17,43070958,rs1799967,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1652Ile,p.Met1652Ile,c.4956G>A,missense_variant,Benign,41830,,23606,1614160,0.014624324726173366,338,0,sas,0.03486186000000001,19.0,0.426,0.00,-0.0500,4.21,0.400,0.00300,143,75032,0,0,271,60024,0,0,679,29608,8,0,5,44892,0,0,3175,64006,99,0,143,6062,3,0,15052,1180032,119,0,7,910,0,0,3269,91088,99,0,862,62506,10,0 -17-43070959-A-T,17,43070959,rs80356968,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1652Lys,p.Met1652Lys,c.4955T>A,missense_variant,Uncertain significance,188415,,1,1461886,6.840478669335365e-7,0,0,,,25.0,0.719,0.110,0.0400,6.33,0.00,0.0220,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43070959-A-G,17,43070959,rs80356968,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1652Thr,p.Met1652Thr,c.4955T>C,missense_variant,Benign,37615,,20,1614090,0.000012390882788444262,0,0,nfe,0.0000103,24.4,0.705,0.0200,0.00,6.33,0.00,0.00300,0,74932,0,0,0,60008,0,0,0,29604,0,0,0,44902,0,0,1,64036,0,0,0,6084,0,0,19,1180048,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 -17-43070960-T-C,17,43070960,rs1348949389,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1652Val,p.Met1652Val,c.4954A>G,missense_variant,Uncertain significance,479222,,1,152208,0.000006569956901082729,0,0,,,17.6,0.517,0.00,0.00,0.518,,,0,41448,0,0,0,15286,0,0,0,3472,0,0,0,5202,0,0,0,10620,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43070962-G-A,17,43070962,rs80356938,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1651Phe,p.Ser1651Phe,c.4952C>T,missense_variant,Uncertain significance,55330,,10,833110,0.000012003216862119047,0,0,nfe,0.00000664,25.9,0.794,0.00,-0.0200,8.78,0.00,0.135,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,10,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070965-A-G,17,43070965,rs778487856,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1650Thr,p.Met1650Thr,c.4949T>C,missense_variant,Conflicting interpretations of pathogenicity,441375,,2,1614076,0.0000012390990263159852,0,0,,,20.8,0.561,0.0100,0.00,2.94,0.0100,0.0190,0,74920,0,0,2,59998,0,0,0,29606,0,0,0,44900,0,0,0,64030,0,0,0,6084,0,0,0,1180046,0,0,0,912,0,0,0,91092,0,0,0,62488,0,0 -17-43070965-ATTC-A,17,43070965,rs1597830403,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649del,p.Arg1649del,c.4946_4948del,inframe_deletion,Pathogenic,803408,,1,1461888,6.840469310918484e-7,0,0,,,8.66,,0.0500,0.0100,2.94,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43070968-C-T,17,43070968,rs876660509,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Lys,p.Arg1649Lys,c.4946G>A,missense_variant,Uncertain significance,868865,,9,833108,0.000010802921109868109,0,0,nfe,0.00000556,11.6,0.560,0.00,0.0100,0.864,0.450,0.226,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,9,761904,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43070968-C-A,17,43070968,rs876660509,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Ile,p.Arg1649Ile,c.4946G>T,missense_variant,not provided,868866,,1,833108,0.0000012003245677631232,0,0,,,22.2,0.591,0.00,-0.0200,0.864,0.0100,0.00500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27296,0,0 -17-43070969-T-TAAAA,17,43070969,rs1597830446,T,TAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649PhefsTer2,p.Arg1649PhefsTer2,c.4944_4945insTTTT,frameshift_variant,Pathogenic,803409,lof_flag,1,1461886,6.840478669335365e-7,0,0,,,23.9,,0.00,-0.350,1.36,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43070969-T-C,17,43070969,rs1312537519,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Gly,p.Arg1649Gly,c.4945A>G,missense_variant,not provided,868440,,2,1461886,0.000001368095733867073,0,0,nfe,2.999999999999999e-7,14.8,0.596,0.0200,0.00,1.36,0.190,0.286,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43070971-T-C,17,43070971,rs201810810,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1648Arg,p.Lys1648Arg,c.4943A>G,missense_variant,Likely benign,868434,,1,152370,0.000006562971713591914,0,0,,,0.429,0.566,0.00,0.00,-1.94,0.910,0.00,0,41588,0,0,0,15306,0,0,0,3472,0,0,1,5186,0,0,0,10624,0,0,0,294,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2116,0,0 -17-43070972-T-C,17,43070972,rs747694453,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1648Glu,p.Lys1648Glu,c.4942A>G,missense_variant,Uncertain significance,662443,,3,1461890,0.0000020521379857581625,0,0,sas,0.00000385,16.4,0.560,0.0200,0.00,0.309,0.0100,0.00500,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1112012,0,0,,,,,2,86258,0,0,0,60396,0,0 -17-43070973-G-T,17,43070973,rs80357302,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1647Lys,p.Asn1647Lys,c.4941C>A,missense_variant,Conflicting interpretations of pathogenicity,55325,,2,1461880,0.0000013681013489479301,0,0,,,5.24,0.426,0.0100,-0.0500,0.598,0.320,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,1,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43070973-G-C,17,43070973,rs80357302,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1647Lys,p.Asn1647Lys,c.4941C>G,missense_variant,not provided,865710,,1,1461880,6.840506744739651e-7,0,0,,,3.78,0.416,0.00,-0.0100,0.598,0.320,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43070977-AC-A,17,43070977,rs80357653,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1646SerfsTer12,p.Val1646SerfsTer12,c.4936del,frameshift_variant,Pathogenic,55322,lof_flag,5,1461888,0.0000034202346554592417,0,0,nfe,7.200000000000001e-7,22.7,,0.0300,-0.120,-1.50,,,0,33480,0,0,0,44724,0,0,1,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43070978-C-T,17,43070978,rs2052371775,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1646Ile,p.Val1646Ile,c.4936G>A,missense_variant,not provided,868859,,1,628770,0.000001590406666984748,0,0,,,4.68,0.553,0.00,0.00,-0.112,0.130,0.00300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33096,0,0 -17-43070979-C-G,17,43070979,rs80357373,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1645Ser,p.Arg1645Ser,c.4935G>C,missense_variant,Conflicting interpretations of pathogenicity,55321,,5,1461886,0.0000034202393346676827,0,0,nfe,8.4e-7,12.7,0.602,0.00,0.00,0.133,0.0500,0.0260,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53414,0,0,0,5768,0,0,4,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43070980-C-G,17,43070980,rs70953661,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1645Thr,p.Arg1645Thr,c.4934G>C,missense_variant,Conflicting interpretations of pathogenicity,142312,,34,1614214,0.00002106288261655518,0,0,afr,0.00028763000000000014,7.21,0.577,0.00,0.00,0.259,0.130,0.0480,30,75050,0,0,0,60020,0,0,0,29606,0,0,0,44890,0,0,0,64034,0,0,0,6062,0,0,0,1180048,0,0,0,908,0,0,0,91086,0,0,4,62510,0,0 -17-43070983-T-C,17,43070983,rs80357016,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1644Gly,p.Glu1644Gly,c.4931A>G,missense_variant,Conflicting interpretations of pathogenicity,55318,,4,628780,0.000006361525493813417,0,0,nfe,0.0000036699999999999996,9.91,0.516,0.00,0.00,1.11,0.270,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,4,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070984-C-T,17,43070984,rs397509205,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1644Lys,p.Glu1644Lys,c.4930G>A,missense_variant,not provided,865697,,1,833110,0.0000012003216862119048,0,0,,,7.78,0.596,0.00,0.0100,1.31,1.00,0.0770,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070991-A-C,17,43070991,rs876658258,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1641Ala,p.Ala1641Ala,c.4923T>G,synonymous_variant,Likely benign,229900,,1,628782,0.0000015903763148436182,0,0,,,7.17,,0.00,0.00,0.410,,,0,17694,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070995-G-C,17,43070995,rs1036328075,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1640Arg,p.Thr1640Arg,c.4919C>G,missense_variant,not provided,865683,,1,628776,0.0000015903914907693677,0,0,,,10.0,0.612,0.0100,-0.0200,0.152,0.0900,0.0800,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43070997-C-G,17,43070997,rs1060504558,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1639Phe,p.Leu1639Phe,c.4917G>C,missense_variant,not provided,865414,,1,833110,0.0000012003216862119048,0,0,,,1.91,0.589,0.00,-0.0100,0.0600,0.260,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43070999-A-G,17,43070999,rs1213264226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1639Leu,p.Leu1639Leu,c.4915T>C,synonymous_variant,Likely benign,825287,,6,628780,0.000009542288240720125,0,0,,,0.217,,0.00,0.00,-0.332,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,4,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43071000-T-C,17,43071000,rs786201216,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1638Glu,p.Glu1638Glu,c.4914A>G,synonymous_variant,Likely benign,184003,,12,1614118,0.0000074344007067636935,0,0,nfe,0.00000542,2.81,,0.00,0.00,1.02,,,0,74942,0,0,0,60006,0,0,0,29608,0,0,0,44898,0,0,0,64044,0,0,0,6084,0,0,12,1180042,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 -17-43071001-T-C,17,43071001,rs2052380495,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1638Gly,p.Glu1638Gly,c.4913A>G,missense_variant,Uncertain significance,868402,,1,628780,0.0000015903813734533542,0,0,,,14.2,0.464,0.00,0.00,0.495,0.150,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071004-G-A,17,43071004,rs80357048,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1637Leu,p.Pro1637Leu,c.4910C>T,missense_variant,Benign,55314,,60,1614068,0.00003717315503436039,0,0,nfe,0.00003774,14.8,0.571,0.0300,-0.0300,3.03,0.0300,0.0570,0,74916,0,0,0,60004,0,0,0,29608,0,0,0,44898,0,0,0,64024,0,0,0,6084,0,0,57,1180046,0,0,0,912,0,0,0,91086,0,0,3,62490,0,0 -17-43071011-C-T,17,43071011,rs200432771,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1635Lys,p.Glu1635Lys,c.4903G>A,missense_variant,Conflicting interpretations of pathogenicity,41829,,7,1614108,0.000004336760613292295,0,0,nfe,0.0000012399999999999998,3.79,0.513,0.00,0.00,0.620,0.320,0.00,1,74926,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64038,0,0,0,6084,0,0,5,1180054,0,0,0,912,0,0,0,91090,0,0,1,62490,0,0 -17-43071012-C-A,17,43071012,rs746199881,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Ser,p.Arg1634Ser,c.4902G>T,missense_variant,not provided,868387,,3,628778,0.000004771159296285812,0,0,sas,0.00001141,5.08,0.602,0.00,0.00,-0.168,0.0800,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,0,33098,0,0 -17-43071012-C-T,17,43071012,rs746199881,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Arg,p.Arg1634Arg,c.4902G>A,synonymous_variant,Likely benign,215875,,2,628778,0.000003180772864190541,0,0,,,1.49,,0.0100,0.00,-0.168,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43071013-C-T,17,43071013,rs1489040931,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Lys,p.Arg1634Lys,c.4901G>A,missense_variant,Uncertain significance,868384,,1,628778,0.0000015903864320952704,0,0,,,0.0570,0.544,0.00,0.00,-0.134,0.570,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43071015-G-A,17,43071015,rs1567774741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1633Ser,p.Ser1633Ser,c.4899C>T,synonymous_variant,Likely benign,745573,,1,628772,0.0000015904016082141062,0,0,,,9.42,,0.450,0.100,3.26,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071018-C-T,17,43071018,rs2052386010,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1632Val,p.Val1632Val,c.4896G>A,synonymous_variant,Likely benign,865393,,2,628768,0.0000031808234515751436,0,0,eas,0.00000919,1.19,,0.0500,-0.0300,0.441,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36068,0,0,0,53136,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071020-C-T,17,43071020,rs770193975,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1632Met,p.Val1632Met,c.4894G>A,missense_variant,Conflicting interpretations of pathogenicity,409339,,3,1614134,0.0000018585817534355885,0,0,nfe,6.800000000000001e-7,0.582,0.593,0.0100,-0.0100,-0.287,0.130,0.00600,0,74962,0,0,0,60002,0,0,0,29606,0,0,0,44904,0,0,0,64024,0,0,0,6084,0,0,3,1180056,0,0,0,912,0,0,0,91094,0,0,0,62490,0,0 -17-43071020-C-G,17,43071020,rs770193975,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1632Leu,p.Val1632Leu,c.4894G>C,missense_variant,Uncertain significance,631407,,1,1461888,6.840469310918484e-7,0,0,,,0.225,0.564,0.00,0.00,-0.287,0.280,0.00100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071022-C-A,17,43071022,rs273901742,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1631Ile,p.Ser1631Ile,c.4892G>T,missense_variant,not provided,868836,,1,628776,0.0000015903914907693677,0,0,,,0.665,0.564,0.0100,0.00,-1.33,0.100,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071022-C-T,17,43071022,rs273901742,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1631Asn,p.Ser1631Asn,c.4892G>A,missense_variant,Conflicting interpretations of pathogenicity,55309,,3,628776,0.000004771174472308103,0,0,eas,0.00000919,0.377,0.501,0.110,0.0100,-1.33,0.0700,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36068,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071025-T-C,17,43071025,rs2153824237,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1630Gly,p.Glu1630Gly,c.4889A>G,missense_variant,Uncertain significance,1050408,,1,833110,0.0000012003216862119048,0,0,,,15.2,0.497,0.0100,-0.0100,0.573,0.0900,0.0240,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071026-C-T,17,43071026,rs1173155015,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1630Lys,p.Glu1630Lys,c.4888G>A,missense_variant,Uncertain significance,967028,,1,628774,0.0000015903965494756462,0,0,,,22.7,0.525,0.0100,-0.0300,1.38,0.0200,0.0240,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071031-A-G,17,43071031,rs4986854,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1628Thr,p.Met1628Thr,c.4883T>C,missense_variant,Benign,41828,,1550,1614148,0.0009602589105831683,11,0,eas,0.011513629999999993,0.507,0.489,0.0300,0.00,-0.768,0.200,0.0280,0,75030,0,0,0,60002,0,0,168,29606,0,0,555,44886,9,0,495,64028,1,0,5,6062,0,0,220,1180032,0,0,0,912,0,0,39,91080,0,0,68,62510,1,0 -17-43071032-T-C,17,43071032,rs80357465,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1628Val,p.Met1628Val,c.4882A>G,missense_variant,Conflicting interpretations of pathogenicity,55306,,73,1614134,0.00004522548933359932,0,0,nfe,0.00004346,3.41,0.539,0.00,0.00,-0.339,0.210,0.00100,5,74952,0,0,1,60008,0,0,0,29604,0,0,0,44898,0,0,0,64042,0,0,0,6084,0,0,64,1180050,0,0,0,912,0,0,2,91094,0,0,1,62490,0,0 -17-43071033-T-C,17,43071033,rs1425743425,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Ala,p.Ala1627Ala,c.4881A>G,synonymous_variant,Likely benign,531530,,1,628774,0.0000015903965494756462,0,0,,,0.656,,0.0100,0.00,-0.261,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071034-G-A,17,43071034,rs764015648,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Val,p.Ala1627Val,c.4880C>T,missense_variant,Uncertain significance,927806,,1,1461882,6.840497386245948e-7,0,0,,,0.365,0.581,0.00,-0.0200,-0.0370,1.00,0.00100,0,33480,0,0,0,44724,0,0,1,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071035-C-T,17,43071035,rs774505084,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Thr,p.Ala1627Thr,c.4879G>A,missense_variant,Uncertain significance,441357,,1,628778,0.0000015903864320952704,0,0,,,2.01,0.623,0.0200,-0.0100,-0.440,0.290,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071036-A-G,17,43071036,rs1373902074,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1626Asn,p.Asn1626Asn,c.4878T>C,synonymous_variant,,,,1,628778,0.0000015903864320952704,0,0,,,0.196,,0.0100,0.00,-3.34,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071037-T-C,17,43071037,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1626Ser,p.Asn1626Ser,c.4877A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,0.100,0.450,0.0500,-0.0200,-1.15,0.770,0.0100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071041-A-T,17,43071041,rs2052392087,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1625Asn,p.Tyr1625Asn,c.4873T>A,missense_variant,Uncertain significance,838907,,1,152184,0.000006570993008463439,0,0,,,3.17,0.563,0.0200,0.00,-0.601,,,0,41446,0,0,0,15268,0,0,0,3468,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43071042-C-G,17,43071042,rs11555992,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>C,synonymous_variant,,,,1,1461866,6.840572254912557e-7,0,0,,,0.574,,0.0100,0.00,-0.137,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071042-C-T,17,43071042,rs11555992,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>A,synonymous_variant,Likely benign,491089,,1,1461866,6.840572254912557e-7,0,0,,,0.704,,0.0100,0.00,-0.137,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071042-C-A,17,43071042,rs11555992,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>T,synonymous_variant,Likely benign,697574,,1,1461866,6.840572254912557e-7,0,0,,,0.511,,0.00,0.00,-0.137,,,0,33478,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071046-G-C,17,43071046,rs80356862,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1623Gly,p.Ala1623Gly,c.4868C>G,missense_variant,Pathogenic/Likely pathogenic,37614,,5,1461868,0.000003420281448119803,0,0,nfe,0.0000013199999999999999,19.4,0.550,0.920,0.660,0.581,0.0800,0.00,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1111996,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43071054-A-G,17,43071054,rs750938749,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1620Thr,p.Thr1620Thr,c.4860T>C,synonymous_variant,Likely benign,240808,,30,1461872,0.000020521632536911577,0,0,nfe,0.0000183,2.77,,0.0100,0.00,0.909,,,1,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,29,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071056-T-C,17,43071056,rs8176219,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1620Ala,p.Thr1620Ala,c.4858A>G,missense_variant,Conflicting interpretations of pathogenicity,141333,,5,628782,0.000007951881574218091,0,0,sas,0.00001141,0.160,0.551,0.00,0.00,-1.80,0.230,0.00100,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,1,33098,0,0 -17-43071059-T-C,17,43071059,rs2153830785,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1619Ala,p.Thr1619Ala,c.4855A>G,missense_variant,Uncertain significance,1064261,,3,833092,0.000003601042862012839,0,0,nfe,4.4e-7,1.58,0.555,0.00,0.00,-0.559,0.590,0.00,0,15784,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43071060-A-T,17,43071060,rs750718476,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Gln,p.His1618Gln,c.4854T>A,missense_variant,,,,1,1461874,6.840534820374396e-7,0,0,,,2.74,0.577,0.00,0.00,-0.569,0.520,0.103,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071060-A-G,17,43071060,rs750718476,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618His,p.His1618His,c.4854T>C,synonymous_variant,Likely benign,479221,,2,1461874,0.0000013681069640748791,0,0,nfe,2.999999999999999e-7,0.260,,0.00,0.00,-0.569,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071061-T-C,17,43071061,rs1277159752,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Arg,p.His1618Arg,c.4853A>G,missense_variant,Uncertain significance,482919,,1,628780,0.0000015903813734533542,0,0,,,5.50,0.566,0.0100,0.00,0.651,0.470,0.0770,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071062-G-A,17,43071062,rs755920262,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Tyr,p.His1618Tyr,c.4852C>T,missense_variant,Uncertain significance,418981,,3,628770,0.000004771220000954244,0,0,nfe,9.5e-7,19.5,0.426,0.00,0.00,1.16,0.0600,0.145,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,2,350108,0,0,,,,,1,69792,0,0,0,33098,0,0 -17-43071063-A-G,17,43071063,rs786202627,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1617Ala,p.Ala1617Ala,c.4851T>C,synonymous_variant,Likely benign,186010,,1,628782,0.0000015903763148436182,0,0,,,4.93,,0.00,0.00,0.698,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071066-A-G,17,43071066,rs1480250917,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1616Ala,p.Ala1616Ala,c.4848T>C,synonymous_variant,Likely benign,825226,,2,985314,0.000002029809786524905,0,0,,,4.31,,0.00,0.00,0.655,,,0,57232,0,0,0,16260,0,0,0,8618,0,0,0,8834,0,0,0,10900,0,0,0,1936,0,0,2,829936,0,0,0,912,0,0,0,21294,0,0,0,29392,0,0 -17-43071067-G-A,17,43071067,rs2052395711,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1616Val,p.Ala1616Val,c.4847C>T,missense_variant,Uncertain significance,923712,,1,628778,0.0000015903864320952704,0,0,,,9.56,0.802,0.00,-0.0100,1.90,0.0500,0.00900,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071068-C-T,17,43071068,rs890599236,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1616Thr,p.Ala1616Thr,c.4846G>A,missense_variant,Uncertain significance,971555,,4,1614066,0.0000024782134063910645,0,0,afr,0.000017460000000000002,11.0,0.541,0.00,0.00,0.339,0.0600,0.00900,4,74916,0,0,0,59992,0,0,0,29604,0,0,0,44904,0,0,0,64044,0,0,0,6084,0,0,0,1180036,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 -17-43071069-A-G,17,43071069,rs144588397,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1615Ala,p.Ala1615Ala,c.4845T>C,synonymous_variant,Likely benign,184340,,36,1614060,0.00002230400356864057,0,0,nfe,0.00002074,4.24,,0.00,0.00,0.231,,,1,74924,0,0,0,59992,0,0,0,29606,0,0,0,44904,0,0,0,64036,0,0,0,6084,0,0,34,1180032,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 -17-43071071-C-T,17,43071071,rs80356987,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1615Thr,p.Ala1615Thr,c.4843G>A,missense_variant,Uncertain significance,55302,,10,1614058,0.000006195564223838301,0,0,nfe,0.00000429,15.7,0.529,0.00,-0.0100,-0.0190,0.0500,0.444,0,74908,0,0,0,59988,0,0,0,29606,0,0,0,44900,0,0,0,64042,0,0,0,6084,0,0,10,1180038,0,0,0,912,0,0,0,91090,0,0,0,62490,0,0 -17-43071073-G-A,17,43071073,rs766305255,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1614Leu,p.Pro1614Leu,c.4841C>T,missense_variant,Uncertain significance,216671,,8,628780,0.000012723050987626834,0,0,nfe,0.0000051799999999999995,14.3,0.411,0.00,-0.0100,0.613,0.0200,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,2,53142,0,0,0,4148,0,0,5,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43071074-G-A,17,43071074,rs70953660,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1614Ser,p.Pro1614Ser,c.4840C>T,missense_variant,Benign,55301,,178,1614124,0.00011027653389702402,0,0,afr,0.0018128499999999997,3.73,0.544,0.00,0.00,0.419,0.150,0.00,156,75024,0,0,7,60006,0,0,0,29602,0,0,0,44892,0,0,0,64026,0,0,0,6062,0,0,4,1180006,0,0,0,910,0,0,0,91088,0,0,11,62508,0,0 -17-43071075-A-AGG,17,43071075,,A,AGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1614LeufsTer20,p.Pro1614LeufsTer20,c.4838_4839insCC,frameshift_variant,,,lof_flag,1,1461858,6.840609689860438e-7,0,0,,,22.7,,0.00,-0.0500,0.965,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111990,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43071075-A-T,17,43071075,rs2153833066,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613Arg,p.Ser1613Arg,c.4839T>A,missense_variant,,,,1,1461858,6.840609689860438e-7,0,0,,,20.0,0.497,0.00,0.00,0.965,0.0100,0.0780,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071076-CT-C,17,43071076,rs397509199,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613ValfsTer20,p.Ser1613ValfsTer20,c.4837del,frameshift_variant,Pathogenic,55299,lof_flag,1,628774,0.0000015903965494756462,0,0,,,22.7,,0.0200,-0.0600,0.389,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071076-C-T,17,43071076,rs1555580821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613Asn,p.Ser1613Asn,c.4838G>A,missense_variant,Uncertain significance,481463,,1,628774,0.0000015903965494756462,0,0,,,5.89,0.353,0.00,0.00,0.389,0.130,0.00300,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071077-T-C,17,43071077,rs1799966,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1613Gly,p.Ser1613Gly,c.4837A>G,missense_variant,Benign,41827,,545124,1613902,0.3377677207166234,94249,0,sas,0.4950363199999999,8.64,0.252,0.00,-0.0100,0.0120,0.110,0.0380,17633,74948,2108,0,19373,59986,3184,0,10872,29604,1982,0,15945,44876,2884,0,25443,63974,5036,0,2258,6062,445,0,386657,1179962,63273,0,260,912,41,0,45434,91072,11636,0,21249,62506,3660,0 -17-43071077-T-A,17,43071077,rs1799966,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1613Cys,p.Ser1613Cys,c.4837A>T,missense_variant,Benign/Likely benign,37613,,49,1613874,0.00003036172588442468,0,0,afr,0.00047258000000000006,19.9,0.505,0.00,0.00,0.0120,0.0100,0.527,46,74846,0,0,0,59978,0,0,0,29604,0,0,0,44890,0,0,0,63982,0,0,0,6084,0,0,0,1180008,0,0,0,912,0,0,0,91084,0,0,3,62486,0,0 -17-43071078-C-G,17,43071078,rs747688901,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1612His,p.Gln1612His,c.4836G>C,missense_variant,Uncertain significance,185283,,2,628770,0.000003180813333969496,0,0,sas,0.00000475,6.12,0.495,0.00,-0.0100,1.63,0.220,0.0870,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350106,0,0,,,,,2,69796,0,0,0,33098,0,0 -17-43071078-C-A,17,43071078,rs747688901,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1612His,p.Gln1612His,c.4836G>T,missense_variant,Uncertain significance,2099260,,1,628770,0.000001590406666984748,0,0,,,6.52,0.495,0.00,-0.0100,1.63,0.220,0.0870,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071083-C-T,17,43071083,rs2052400387,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1611Thr,p.Ala1611Thr,c.4831G>A,missense_variant,,,,2,152154,0.000013144577204674212,0,0,nfe,0.00000488,3.37,0.603,0.00,0.00,-0.0300,,,0,41434,0,0,0,15264,0,0,0,3466,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,2,68026,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43071084-A-G,17,43071084,rs1555580852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1610Ser,p.Ser1610Ser,c.4830T>C,synonymous_variant,,,,1,833090,0.0000012003505023466853,0,0,,,4.82,,0.00,0.00,2.29,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43071089-CTGCAACTTTCAATTG-C,17,43071089,,CTGCAACTTTCAATTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604_Ala1608del,p.Gln1604_Ala1608del,c.4810_4824del,inframe_deletion,,,,1,628772,0.0000015904016082141062,0,0,,,10.5,,0.00,0.0100,1.14,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43071090-T-C,17,43071090,rs1555580860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Ala,p.Ala1608Ala,c.4824A>G,synonymous_variant,Likely benign,480887,,1,628774,0.0000015903965494756462,0,0,,,4.43,,0.00,-0.0100,1.26,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071091-G-T,17,43071091,rs80357072,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Glu,p.Ala1608Glu,c.4823C>A,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,4.09,0.576,0.00,0.00,0.585,0.530,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071092-C-T,17,43071092,rs1567775064,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Thr,p.Ala1608Thr,c.4822G>A,missense_variant,Uncertain significance,631142,,1,628776,0.0000015903914907693677,0,0,,,14.1,0.529,0.00,-0.0100,0.353,0.230,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071092-CAACTTTCAATTGGGG-C,17,43071092,rs80359888,CAACTTTCAATTGGGG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1603_Val1607del,p.Pro1603_Val1607del,c.4807_4821del,inframe_deletion,Uncertain significance,37611,,15,628776,0.000023855872361540516,0,0,amr,0.00021098999999999998,10.5,,0.0100,0.0100,0.353,,,0,17694,0,0,15,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071093-A-G,17,43071093,rs1260740618,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1607Val,p.Val1607Val,c.4821T>C,synonymous_variant,Likely benign,628108,,1,152206,0.000006570043230884459,0,0,,,2.70,,0.00,-0.0100,1.30,,,0,41444,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,1,2094,0,0 -17-43071095-C-T,17,43071095,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1607Ile,p.Val1607Ile,c.4819G>A,missense_variant,,,,2,833088,0.0000024007067680725206,0,0,nfe,4.4e-7,18.8,0.475,0.0300,0.0200,4.96,0.0100,0.103,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761884,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43071096-T-A,17,43071096,rs2153836536,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1606Asn,p.Lys1606Asn,c.4818A>T,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,15.7,0.369,0.0600,0.0300,0.124,0.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761884,0,0,,,,,1,16458,0,0,0,27298,0,0 -17-43071098-T-C,17,43071098,rs80356943,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1606Glu,p.Lys1606Glu,c.4816A>G,missense_variant,Benign,37612,,50,1613986,0.00003097920304141424,0,0,nfe,0.00002907,13.4,0.464,0.00,-0.0100,4.86,0.0900,0.00,1,74914,0,0,0,59958,0,0,0,29606,0,0,0,44898,0,0,0,64032,0,0,0,6084,0,0,45,1180018,0,0,0,912,0,0,0,91082,0,0,4,62482,0,0 -17-43071099-C-T,17,43071099,rs1060504589,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1605Leu,p.Leu1605Leu,c.4815G>A,synonymous_variant,Likely benign,415603,,2,628740,0.0000031809651048128003,0,0,amr,0.000007580000000000001,1.29,,0.00,-0.0100,1.88,,,0,17694,0,0,2,43710,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43071101-A-G,17,43071101,rs80356833,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1605Leu,p.Leu1605Leu,c.4813T>C,synonymous_variant,Likely benign,55294,,71,1614088,0.000043987688403606245,0,0,afr,0.00049484,1.39,,0.00,0.00,0.121,,,48,75036,0,0,0,59984,0,0,1,29606,0,0,1,44882,0,0,0,64020,0,0,0,6062,0,0,15,1180004,0,0,0,910,0,0,3,91078,0,0,3,62506,0,0 -17-43071101-A-T,17,43071101,rs80356833,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1605Met,p.Leu1605Met,c.4813T>A,missense_variant,Uncertain significance,185823,,1,152144,0.000006572720580502681,0,0,,,7.25,0.575,0.00,0.00,0.121,,,0,41436,0,0,0,15270,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68024,0,0,0,910,0,0,0,4828,0,0,0,2088,0,0 -17-43071102-T-C,17,43071102,rs28897693,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1604Gln,p.Gln1604Gln,c.4812A>G,synonymous_variant,Benign,55293,,1766,1614140,0.0010940810586442316,16,0,sas,0.0035311900000000005,0.108,,0.00,0.00,-4.04,,,11,75048,0,0,16,59988,0,0,0,29602,0,0,20,44888,0,0,2,64034,0,0,2,6062,0,0,1302,1180018,5,0,0,912,0,0,352,91082,11,0,61,62506,0,0 -17-43071103-T-C,17,43071103,rs80357439,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604Arg,p.Gln1604Arg,c.4811A>G,missense_variant,Uncertain significance,55292,,3,1461826,0.000002052227830124789,0,0,nfe,2.999999999999999e-7,16.8,0.526,0.00,0.00,0.0830,0.120,0.00600,0,33480,0,0,0,44694,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,2,1111988,0,0,,,,,1,86252,0,0,0,60396,0,0 -17-43071106-G-C,17,43071106,rs1064794054,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1603Arg,p.Pro1603Arg,c.4808C>G,missense_variant,,,,1,833082,0.0000012003620291880032,0,0,,,21.4,0.581,0.00,0.00,2.39,0.0200,0.00300,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761878,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43071107-GA-G,17,43071107,rs886038036,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604AsnfsTer2,p.Gln1604AsnfsTer2,c.4806del,frameshift_variant,Pathogenic,254457,lof_flag,1,1461822,6.840778152196368e-7,0,0,,,22.9,,0.00,-0.0500,0.997,,,0,33480,0,0,0,44694,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86250,0,0,0,60396,0,0 -17-43071111-T-G,17,43071111,rs886037794,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1601Asn,p.Lys1601Asn,c.4803A>C,missense_variant,,,,1,152216,0.0000065696116045619385,0,0,,,15.0,0.545,0.00,0.00,-0.0420,,,0,41460,0,0,0,15276,0,0,0,3466,0,0,0,5206,0,0,0,10620,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43071113-T-G,17,43071113,rs80357303,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1601Gln,p.Lys1601Gln,c.4801A>C,missense_variant,Uncertain significance,481187,,1,628772,0.0000015904016082141062,0,0,,,22.5,0.605,0.00,0.00,3.60,0.0200,0.416,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071116-A-G,17,43071116,rs775837744,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1600Leu,p.Leu1600Leu,c.4798T>C,synonymous_variant,Likely benign,427357,,9,628776,0.00001431352341692431,0,0,eas,0.00009030999999999997,0.487,,0.00,0.00,-0.751,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,7,36068,0,0,0,53140,0,0,0,4148,0,0,1,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071117-T-C,17,43071117,rs749609930,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Ala,p.Ala1599Ala,c.4797A>G,synonymous_variant,Likely benign,1120970,,11,1461892,0.0000075244956535776925,0,0,nfe,0.00000531,0.836,,0.00,0.00,-2.96,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,11,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071118-G-A,17,43071118,rs749702730,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Val,p.Ala1599Val,c.4796C>T,missense_variant,Uncertain significance,825179,,4,1461888,0.0000027361877243673934,0,0,sas,0.000015830000000000003,17.6,0.540,0.00,-0.0100,1.15,0.0100,0.0260,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112008,0,0,,,,,4,86258,0,0,0,60396,0,0 -17-43071119-C-T,17,43071119,rs1597831380,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Thr,p.Ala1599Thr,c.4795G>A,missense_variant,Uncertain significance,663314,,2,628780,0.0000031807627469067084,0,0,sas,0.00000475,5.21,0.532,0.00,0.00,0.240,0.130,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,2,69798,0,0,0,33098,0,0 -17-43071120-A-T,17,43071120,rs2153837801,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1598Ser,p.Ser1598Ser,c.4794T>A,synonymous_variant,Likely benign,2021398,,1,833108,0.0000012003245677631232,0,0,,,5.30,,0.00,0.00,0.163,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071121-G-A,17,43071121,rs2153837843,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1598Phe,p.Ser1598Phe,c.4793C>T,missense_variant,Uncertain significance,1446083,,1,628778,0.0000015903864320952704,0,0,,,22.7,0.685,0.00,0.00,2.11,0.00,0.758,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071123-G-A,17,43071123,rs1555580935,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Thr,p.Thr1597Thr,c.4791C>T,synonymous_variant,Likely benign,481061,,1,628780,0.0000015903813734533542,0,0,,,0.474,,0.00,0.00,0.334,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071124-G-T,17,43071124,rs587781623,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Asn,p.Thr1597Asn,c.4790C>A,missense_variant,Uncertain significance,141272,,5,1461892,0.0000034202252970807693,0,0,sas,0.000015830000000000003,6.11,0.515,0.00,0.00,0.378,0.0900,0.0240,0,33480,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112012,0,0,,,,,4,86258,0,0,0,60396,0,0 -17-43071124-G-A,17,43071124,rs587781623,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Ile,p.Thr1597Ile,c.4790C>T,missense_variant,Uncertain significance,2585854,,1,1461892,6.840450594161539e-7,0,0,,,6.28,0.558,0.00,0.00,0.378,0.320,0.0240,0,33480,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071125-T-C,17,43071125,rs80357187,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Ala,p.Thr1597Ala,c.4789A>G,missense_variant,Conflicting interpretations of pathogenicity,55288,,2,1461888,0.0000013680938621836967,0,0,,,0.137,0.561,0.00,0.00,-1.73,0.170,0.00,1,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,0,1112012,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43071126-T-C,17,43071126,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1596Ser,p.Ser1596Ser,c.4788A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.47,,0.00,0.00,0.575,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43071130-G-A,17,43071130,rs1395897649,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1595Phe,p.Ser1595Phe,c.4784C>T,missense_variant,,,,3,1461886,0.0000020521436008006096,0,0,nfe,7.200000000000001e-7,16.1,0.516,0.00,-0.0100,0.931,0.0100,0.271,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071132-T-C,17,43071132,rs876659455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1594Pro,p.Pro1594Pro,c.4782A>G,synonymous_variant,Likely benign,231948,,1,628782,0.0000015903763148436182,0,0,,,3.90,,0.00,0.00,0.318,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071133-G-C,17,43071133,rs1301724072,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1594Arg,p.Pro1594Arg,c.4781C>G,missense_variant,,,,1,628782,0.0000015903763148436182,0,0,,,21.5,0.596,0.00,0.00,4.29,0.00,0.0770,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071137-T-C,17,43071137,rs397509197,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1593Val,p.Ile1593Val,c.4777A>G,missense_variant,Uncertain significance,55285,,1,628782,0.0000015903763148436182,0,0,,,0.0400,0.553,0.00,0.00,-1.26,0.540,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071138-G-C,17,43071138,rs761925468,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Lys,p.Asn1592Lys,c.4776C>G,missense_variant,Conflicting interpretations of pathogenicity,183931,,5,1461888,0.0000034202346554592417,0,0,nfe,2.999999999999999e-7,5.22,0.383,0.00,0.00,-0.166,0.0100,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,2,5768,0,0,2,1112008,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43071139-T-C,17,43071139,rs786203699,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Ser,p.Asn1592Ser,c.4775A>G,missense_variant,Conflicting interpretations of pathogenicity,187395,,2,628782,0.0000031807526296872365,0,0,nfe,9.5e-7,0.0220,0.470,0.00,0.00,0.321,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,2,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071140-T-C,17,43071140,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Asp,p.Asn1592Asp,c.4774A>G,missense_variant,,,,1,1461892,6.840450594161539e-7,0,0,,,14.0,0.391,0.00,0.00,0.766,0.0200,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071140-T-G,17,43071140,rs1567775261,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592His,p.Asn1592His,c.4774A>C,missense_variant,Uncertain significance,584508,,1,1461892,6.840450594161539e-7,0,0,,,17.0,0.435,0.00,-0.0100,0.766,0.0100,0.0540,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,1,5768,0,0,0,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071143-C-T,17,43071143,rs587782825,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1591Ser,p.Gly1591Ser,c.4771G>A,missense_variant,Uncertain significance,142926,,11,1613984,0.000006815433114578583,0,0,nfe,0.000005,1.35,0.566,0.0100,0.0100,0.0630,0.660,0.00,0,74898,0,0,0,59978,0,0,0,29604,0,0,0,44896,0,0,0,64022,0,0,0,6084,0,0,11,1180016,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 -17-43071145-A-G,17,43071145,rs773524529,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1590Ala,p.Val1590Ala,c.4769T>C,missense_variant,Uncertain significance,479272,,1,628782,0.0000015903763148436182,0,0,,,10.0,0.498,0.00,0.00,0.0830,0.0300,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071147-A-C,17,43071147,rs587780864,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg1589Arg,p.Arg1589Arg,c.4767T>G,synonymous_variant,Likely benign,136550,,2,152194,0.000013141122514685205,0,0,afr,0.000008,0.789,,0.0500,0.0200,-0.482,,,2,41448,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43071148-C-T,17,43071148,rs80357341,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1589His,p.Arg1589His,c.4766G>A,missense_variant,Likely benign,55284,,25,1461890,0.00001710114988131802,0,0,sas,0.00009790999999999999,0.150,0.539,0.00,-0.0100,-2.27,1.00,0.00,0,33480,0,0,1,44724,0,0,1,26136,0,0,2,39698,0,0,0,53420,0,0,0,5768,0,0,7,1112010,0,0,,,,,14,86258,0,0,0,60396,0,0 -17-43071149-G-A,17,43071149,rs80357002,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1589Cys,p.Arg1589Cys,c.4765C>T,missense_variant,Conflicting interpretations of pathogenicity,55283,,19,1461884,0.000012996927252777923,0,0,sas,0.00003764999999999999,16.7,0.526,0.00,-0.0100,2.64,0.0200,0.00100,1,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,10,1112008,0,0,,,,,7,86258,0,0,1,60396,0,0 -17-43071150-A-G,17,43071150,rs753651115,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1588Ala,p.Ala1588Ala,c.4764T>C,synonymous_variant,Likely benign,184874,,6,1614076,0.0000037172970789479554,0,0,nfe,7.899999999999998e-7,4.61,,0.00,0.00,0.625,,,1,74936,0,0,0,59998,0,0,0,29608,0,0,0,44886,0,0,0,64032,0,0,1,6084,0,0,4,1180036,0,0,0,912,0,0,0,91096,0,0,0,62488,0,0 -17-43071150-A-T,17,43071150,rs753651115,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1588Ala,p.Ala1588Ala,c.4764T>A,synonymous_variant,Likely benign,231038,,2,1461888,0.0000013680938621836967,0,0,nfe,2.999999999999999e-7,4.08,,0.00,0.00,0.625,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071151-G-A,17,43071151,rs759314330,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1588Val,p.Ala1588Val,c.4763C>T,missense_variant,,,,7,1461884,0.000004788341619444497,0,0,sas,0.00002995,10.2,0.556,0.00,0.0100,1.34,0.0700,0.0100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1112010,0,0,,,,,6,86258,0,0,0,60396,0,0 -17-43071154-G-A,17,43071154,rs397509195,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1587Leu,p.Ser1587Leu,c.4760C>T,missense_variant,,,,1,628782,0.0000015903763148436182,0,0,,,11.8,0.572,0.00,0.00,1.65,0.370,0.0380,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071155-A-G,17,43071155,rs2153869870,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1587Pro,p.Ser1587Pro,c.4759T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,2.93,0.605,0.00,0.00,0.616,1.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071156-C-A,17,43071156,rs1174774563,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1586Asp,p.Glu1586Asp,c.4758G>T,missense_variant,,,,4,985316,0.000004059611332810997,0,0,nfe,0.00000113,1.46,0.569,0.00,0.00,0.556,0.270,0.00100,0,57242,0,0,0,16266,0,0,0,8624,0,0,0,8830,0,0,0,10884,0,0,0,1936,0,0,4,829936,0,0,0,912,0,0,0,21294,0,0,0,29392,0,0 -17-43071157-T-G,17,43071157,rs765189603,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1586Ala,p.Glu1586Ala,c.4757A>C,missense_variant,,,,1,152224,0.000006569266344334665,0,0,,,13.6,0.604,0.00,0.00,0.0540,,,1,41462,0,0,0,15288,0,0,0,3470,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43071161-G-A,17,43071161,rs267604892,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1585Ser,p.Pro1585Ser,c.4753C>T,missense_variant,Uncertain significance,1742857,,1,833100,0.0000012003360941063497,0,0,,,15.7,0.561,0.00,0.00,1.86,0.0600,0.0380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071164-C-A,17,43071164,rs80357070,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1584Ser,p.Ala1584Ser,c.4750G>T,missense_variant,Likely benign,55279,,29,1614084,0.00001796684683077213,0,0,nfe,0.00001645,15.3,0.519,0.00,0.0100,0.856,0.130,0.0230,1,74946,0,0,0,59992,0,0,0,29608,0,0,0,44900,0,0,0,64028,0,0,0,6084,0,0,28,1180046,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 -17-43071166-C-T,17,43071166,rs752624544,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1583Lys,p.Arg1583Lys,c.4748G>A,missense_variant,Uncertain significance,230482,,8,1461882,0.000005472397908996759,0,0,eas,0.00009927999999999996,5.37,0.558,0.00,0.00,0.814,0.420,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,8,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071166-C-G,17,43071166,rs752624544,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1583Thr,p.Arg1583Thr,c.4748G>C,missense_variant,Uncertain significance,928766,,1,1461882,6.840497386245948e-7,0,0,,,17.0,0.586,0.00,0.00,0.814,0.0200,0.0770,0,33480,0,0,0,44724,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43071170-C-A,17,43071170,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1582Tyr,p.Asp1582Tyr,c.4744G>T,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,20.5,0.558,0.0300,0.0500,2.80,0.00,0.254,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071171-T-C,17,43071171,rs397509194,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Glu,p.Glu1581Glu,c.4743A>G,synonymous_variant,Likely benign,186507,,1,628776,0.0000015903914907693677,0,0,,,3.71,,0.00,-0.0100,2.31,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071173-C-G,17,43071173,rs397509193,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Gln,p.Glu1581Gln,c.4741G>C,missense_variant,Uncertain significance,2450674,,2,1461882,0.0000013680994772491897,0,0,sas,0.00000385,11.2,0.607,0.00,0.0100,0.904,0.190,0.00600,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,2,86258,0,0,0,60396,0,0 -17-43071173-C-T,17,43071173,rs397509193,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Lys,p.Glu1581Lys,c.4741G>A,missense_variant,,,,1,1461882,6.840497386245948e-7,0,0,,,8.32,0.600,0.00,0.0100,0.904,0.160,0.0410,0,33480,0,0,0,44724,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071174-A-G,17,43071174,rs777297026,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Ser,p.Ser1580Ser,c.4740T>C,synonymous_variant,Likely benign,427310,,1,628778,0.0000015903864320952704,0,0,,,0.747,,0.00,0.00,0.0590,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071175-G-T,17,43071175,rs80357411,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Tyr,p.Ser1580Tyr,c.4739C>A,missense_variant,Uncertain significance,431267,,1,628774,0.0000015903965494756462,0,0,,,17.9,0.554,0.00,0.00,1.79,0.0100,0.687,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071175-G-A,17,43071175,rs80357411,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1580Phe,p.Ser1580Phe,c.4739C>T,missense_variant,Uncertain significance,55275,,1,152232,0.000006568921120395186,0,0,,,19.2,0.553,0.00,0.0100,1.79,0.0100,0.598,0,41458,0,0,0,15278,0,0,0,3470,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43071176-A-G,17,43071176,rs2153882019,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Pro,p.Ser1580Pro,c.4738T>C,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,7.98,0.620,0.00,0.00,-0.117,0.200,0.374,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071179-G-C,17,43071179,rs145466894,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1579Ala,p.Pro1579Ala,c.4735C>G,missense_variant,Conflicting interpretations of pathogenicity,142301,,7,1614060,0.000004336889582791222,0,0,afr,0.00004372999999999998,6.78,0.622,0.00,0.00,0.359,0.110,0.00500,7,74922,0,0,0,60004,0,0,0,29606,0,0,0,44890,0,0,0,64024,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43071179-G-A,17,43071179,rs145466894,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1579Ser,p.Pro1579Ser,c.4735C>T,missense_variant,Uncertain significance,1055766,,3,1614060,0.000001858666964053381,0,0,,,2.63,0.585,0.00,0.0100,0.359,0.110,0.00300,0,74922,0,0,0,60004,0,0,0,29606,0,0,0,44890,0,0,3,64024,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43071181-T-C,17,43071181,rs80356930,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1578Gly,p.Asp1578Gly,c.4733A>G,missense_variant,Conflicting interpretations of pathogenicity,55274,,1,833108,0.0000012003245677631232,0,0,,,18.2,0.601,0.00,-0.0100,1.59,0.0200,0.169,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071184-G-A,17,43071184,rs273901741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1577Phe,p.Ser1577Phe,c.4730C>T,missense_variant,Uncertain significance,491086,,1,1461880,6.840506744739651e-7,0,0,,,12.9,0.577,0.00,0.0100,1.42,0.100,0.00500,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43071184-G-T,17,43071184,rs273901741,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1577Tyr,p.Ser1577Tyr,c.4730C>A,missense_variant,Conflicting interpretations of pathogenicity,125729,,7,1614096,0.000004336792854947909,1,0,sas,0.0000036500000000000006,19.9,0.574,0.00,0.00,1.42,0.0800,0.257,0,74942,0,0,0,60008,0,0,0,29606,0,0,0,44896,0,0,0,64034,0,0,0,6084,0,0,5,1180036,0,0,0,912,0,0,2,91088,1,0,0,62490,0,0 -17-43071185-A-G,17,43071185,rs80356909,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1577Pro,p.Ser1577Pro,c.4729T>C,missense_variant,Benign/Likely benign,55272,,134,1614110,0.00008301788601768157,0,0,eas,0.00253178,18.4,0.559,0.00,0.00,1.42,0.210,0.0100,0,74950,0,0,1,60002,0,0,0,29604,0,0,132,44898,0,0,0,64032,0,0,0,6084,0,0,0,1180052,0,0,0,912,0,0,0,91086,0,0,1,62490,0,0 -17-43071186-T-C,17,43071186,rs1567775405,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1576Glu,p.Glu1576Glu,c.4728A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,3.09,,0.00,0.00,-0.112,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43071190-G-C,17,43071190,rs80357052,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1575Arg,p.Pro1575Arg,c.4724C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,23.2,0.538,0.00,0.00,2.93,0.00,0.0740,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43071192-GT-G,17,43071192,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1574AlafsTer27,p.Asp1574AlafsTer27,c.4721del,frameshift_variant,,,lof_flag,1,1461874,6.840534820374396e-7,0,0,,,24.5,,0.00,-0.0200,0.202,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071192-G-A,17,43071192,rs2153887534,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1574Asp,p.Asp1574Asp,c.4722C>T,synonymous_variant,Likely benign,1742669,,1,1461874,6.840534820374396e-7,0,0,,,1.24,,0.00,0.00,0.202,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43071197-C-G,17,43071197,rs1188628175,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1573His,p.Asp1573His,c.4717G>C,missense_variant,Uncertain significance,569880,,1,152188,0.000006570820301206403,0,0,,,10.4,0.605,0.00,-0.0100,1.30,0.0900,0.00300,1,41454,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 -17-43071197-C-T,17,43071197,rs1188628175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1573Asn,p.Asp1573Asn,c.4717G>A,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,11.1,0.399,0.00,0.0100,1.30,0.260,0.0380,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071201-G-C,17,43071201,rs768945711,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1571Leu,p.Phe1571Leu,c.4713C>G,missense_variant,Uncertain significance,481193,,1,628774,0.0000015903965494756462,0,0,,,23.1,0.598,0.00,0.00,2.18,0.0600,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43071202-A-G,17,43071202,rs273901740,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1571Ser,p.Phe1571Ser,c.4712T>C,missense_variant,Uncertain significance,55268,,3,1461884,0.000002052146408333356,0,0,nfe,7.200000000000001e-7,25.4,0.676,0.00,0.00,6.33,0.00,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53410,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071204-G-A,17,43071204,rs786201839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1570Leu,p.Leu1570Leu,c.4710C>T,synonymous_variant,Likely benign,184980,,35,1614106,0.000021683829934341363,0,0,nfe,0.00002153,3.17,,0.00,0.00,0.873,,,0,74940,0,0,0,60010,0,0,0,29608,0,0,0,44900,0,0,0,64032,0,0,0,6084,0,0,35,1180038,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 -17-43071206-G-C,17,43071206,rs147703239,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1570Val,p.Leu1570Val,c.4708C>G,missense_variant,,,,6,833104,0.0000072019819854423935,0,0,nfe,0.0000019200000000000003,22.6,0.575,0.00,0.00,7.01,0.240,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761900,0,0,,,,,0,16460,0,0,1,27296,0,0 -17-43071207-G-A,17,43071207,rs2153892782,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Ser,p.Ser1569Ser,c.4707C>T,synonymous_variant,Likely benign,1742574,,1,628768,0.0000015904117257875718,0,0,,,6.07,,0.00,0.00,0.922,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53132,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071208-C-G,17,43071208,rs1328549834,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Thr,p.Ser1569Thr,c.4706G>C,missense_variant,,,,2,628774,0.0000031807930989512924,0,0,,,17.8,0.598,0.00,0.00,1.64,0.0500,0.0150,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071209-T-A,17,43071209,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Cys,p.Ser1569Cys,c.4705A>T,missense_variant,,,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,19.0,0.584,0.00,-0.0100,0.981,0.0100,0.747,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43071212-T-C,17,43071212,rs80357119,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1568Val,p.Ile1568Val,c.4702A>G,missense_variant,Uncertain significance,55265,,4,1461884,0.0000027361952111111416,0,0,nfe,7.200000000000001e-7,11.1,0.499,0.00,0.00,-0.131,0.330,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53412,0,0,0,5768,0,0,3,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43071215-C-T,17,43071215,rs568753972,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1567Arg,p.Gly1567Arg,c.4699G>A,missense_variant,Uncertain significance,489723,,8,1614164,0.000004956125895509998,0,0,sas,0.000028630000000000002,23.7,0.711,0.00,-0.0200,4.21,0.0300,0.223,0,75034,0,0,0,60024,0,0,0,29604,0,0,0,44890,0,0,0,64020,0,0,0,6062,0,0,1,1180028,0,0,0,912,0,0,6,91082,0,0,1,62508,0,0 -17-43071216-A-G,17,43071216,rs1246456207,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1566Ser,p.Ser1566Ser,c.4698T>C,synonymous_variant,Likely benign,1656301,,3,628768,0.000004771235177362716,0,0,sas,0.00001141,8.18,,0.00,0.00,1.32,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,0,33098,0,0 -17-43071217-G-T,17,43071217,rs1060502325,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1566Tyr,p.Ser1566Tyr,c.4697C>A,missense_variant,Uncertain significance,409298,,1,628762,0.0000015904269023891392,0,0,,,24.3,0.739,0.00,0.00,6.96,0.00,0.0370,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53122,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071223-A-G,17,43071223,rs56119278,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1564Pro,p.Leu1564Pro,c.4691T>C,missense_variant,Benign,55262,,168,1614174,0.0001040779990261273,1,0,afr,0.00187466,20.9,0.554,0.00,0.00,0.339,0.110,0.221,161,75050,1,0,2,60026,0,0,0,29606,0,0,0,44888,0,0,0,64030,0,0,0,6062,0,0,0,1180006,0,0,0,912,0,0,0,91088,0,0,5,62506,0,0 -17-43071224-G-A,17,43071224,rs1597831916,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1564Leu,p.Leu1564Leu,c.4690C>T,synonymous_variant,Likely benign,825102,,5,1461842,0.0000034203422804926934,0,0,nfe,0.0000013199999999999999,3.25,,0.00,0.00,1.20,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53396,0,0,0,5768,0,0,5,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43071225-G-C,17,43071225,rs80357433,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1563Ter,p.Tyr1563Ter,c.4689C>G,stop_gained,Pathogenic,37607,lof_flag,5,1614030,0.000003097835851873881,0,0,nfe,0.0000012399999999999998,37.0,,0.0100,-0.0300,1.16,,,0,74924,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64018,0,0,0,6084,0,0,5,1180002,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43071229-G-A,17,43071229,rs80357096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1562Leu,p.Pro1562Leu,c.4685C>T,missense_variant,Uncertain significance,55261,,1,628738,0.0000015904876116919926,0,0,,,24.9,0.669,0.00,0.00,4.80,0.00,0.0260,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53098,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071231-G-A,17,43071231,rs878853265,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1561Thr,p.Thr1561Thr,c.4683C>T,synonymous_variant,Likely benign,230952,,2,1461764,0.000001368209916238189,0,0,,,3.43,,0.00,0.00,-0.445,,,0,33478,0,0,1,44724,0,0,0,26136,0,0,0,39700,0,0,0,53366,0,0,0,5768,0,0,1,1111938,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43071232-G-A,17,43071232,rs56158747,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1561Ile,p.Thr1561Ile,c.4682C>T,missense_variant,Benign/Likely benign,55259,,376,1614076,0.00023295061694740522,2,0,afr,0.00386701,22.8,0.645,0.00,0.00,0.697,0.00,0.266,319,75034,1,0,33,60022,1,0,0,29604,0,0,0,44894,0,0,0,63980,0,0,0,6062,0,0,1,1179968,0,0,0,912,0,0,3,91088,0,0,20,62512,0,0 -17-43071232-G-T,17,43071232,rs56158747,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1561Asn,p.Thr1561Asn,c.4682C>A,missense_variant,Uncertain significance,246219,,1,152324,0.000006564953651427221,0,0,,,22.8,0.555,0.0100,0.00,0.697,0.00,0.0770,0,41562,0,0,0,15298,0,0,0,3468,0,0,0,5196,0,0,0,10618,0,0,0,294,0,0,0,68028,0,0,0,912,0,0,1,4832,0,0,0,2116,0,0 -17-43071235-C-A,17,43071235,rs564757581,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1560Val,p.Gly1560Val,c.4679G>T,missense_variant,Uncertain significance,142627,,3,985186,0.0000030451102634426394,0,0,amr,0.00004971,21.5,0.666,0.0500,0.0100,1.28,0.0200,0.0380,0,57308,0,0,3,16274,0,0,0,8618,0,0,0,8808,0,0,0,10874,0,0,0,1914,0,0,0,829798,0,0,0,912,0,0,0,21274,0,0,0,29406,0,0 -17-43071237-C-G,17,43071237,rs587781876,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1559Asp,p.Glu1559Asp,c.4677G>C,missense_variant,Uncertain significance,141610,,3,832912,0.0000036018210807384215,0,0,nfe,0.00000105,15.9,0.528,0.00,0.00,0.432,0.0500,0.00,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,3,761722,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43071238-T-A,17,43071238,rs2153902423,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1559Val,p.Glu1559Val,c.4676A>T,missense_variant,Uncertain significance,1354612,,1,628698,0.0000015905888041635253,0,0,,,23.1,0.622,0.00,0.0300,2.91,0.170,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53062,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43071239-C-T,17,43071239,rs80358008,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-1G>A,,c.4676-1G>A,splice_acceptor_variant,Pathogenic,125725,,1,628688,0.0000015906141042933855,0,0,,,33.0,,1.00,-0.880,4.98,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53052,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43071244-A-G,17,43071244,rs184372626,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-6T>C,,c.4676-6T>C,splice_region_variant,,,,1,152332,0.000006564608880602893,0,0,,,14.2,,0.0600,0.410,2.41,,,0,41584,0,0,0,15294,0,0,0,3470,0,0,1,5188,0,0,0,10616,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2114,0,0 -17-43071245-G-A,17,43071245,rs80358005,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-7C>T,,c.4676-7C>T,splice_region_variant,Benign/Likely benign,37606,,83,1613304,0.00005144721639567,0,0,nfe,0.00005795,11.8,,0.00,0.00,1.92,,,0,74900,0,0,0,60008,0,0,0,29604,0,0,0,44894,0,0,0,63888,0,0,0,6080,0,0,83,1179476,0,0,0,912,0,0,0,91072,0,0,0,62470,0,0 -17-43071246-G-A,17,43071246,rs80358021,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-8C>T,,c.4676-8C>T,splice_region_variant,Likely benign,1652797,,1,1460884,6.845170458434756e-7,0,0,,,7.74,,0.00,-0.0100,0.653,,,0,33464,0,0,0,44724,0,0,0,26130,0,0,0,39696,0,0,0,53260,0,0,0,5764,0,0,1,1111242,0,0,,,,,0,86234,0,0,0,60370,0,0 -17-43071246-G-C,17,43071246,rs80358021,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-8C>G,,c.4676-8C>G,splice_region_variant,Conflicting interpretations of pathogenicity,125727,,74,1613080,0.0000458749721030575,0,0,nfe,0.00002395,9.26,,0.00,0.0200,0.653,,,0,74914,0,0,0,60000,0,0,0,29600,0,0,0,44898,0,0,30,63876,0,0,0,6078,0,0,38,1179276,0,0,0,912,0,0,0,91064,0,0,6,62462,0,0 -17-43071249-T-C,17,43071249,rs80358088,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-11A>G,,c.4676-11A>G,intron_variant,Likely benign,125724,,16,1460406,0.000010955857480727962,0,0,nfe,0.00000731,1.59,,0.00,0.0200,-1.09,,,0,33440,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,2,53226,0,0,0,5764,0,0,14,1110842,0,0,,,,,0,86238,0,0,0,60354,0,0 -17-43071250-G-A,17,43071250,rs1380281979,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-12C>T,,c.4676-12C>T,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,7.42,,0.00,0.00,-0.256,,,0,41430,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43071251-G-C,17,43071251,rs2153903443,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-13C>G,,c.4676-13C>G,intron_variant,,,,2,831594,0.000002405019757237306,0,0,nfe,4.4e-7,1.01,,0.00,0.0300,0.326,,,0,15748,0,0,0,984,0,0,0,5142,0,0,0,3618,0,0,0,274,0,0,0,1616,0,0,2,760530,0,0,,,,,0,16426,0,0,0,27256,0,0 -17-43071254-G-T,17,43071254,rs80358067,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-16C>A,,c.4676-16C>A,intron_variant,,,,1,1459272,6.852732047212583e-7,0,0,,,1.88,,0.00,-0.0100,0.174,,,1,33426,0,0,0,44722,0,0,0,26116,0,0,0,39688,0,0,0,53128,0,0,0,5764,0,0,0,1109904,0,0,,,,,0,86192,0,0,0,60332,0,0 -17-43071254-G-C,17,43071254,rs80358067,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-16C>G,,c.4676-16C>G,intron_variant,Benign/Likely benign,91634,,22,1611450,0.000013652300722951379,0,0,nfe,0.00001146,1.83,,0.00,0.0100,0.174,,,0,74854,0,0,0,59998,0,0,0,29588,0,0,0,44894,0,0,0,63742,0,0,0,6080,0,0,21,1177940,0,0,0,912,0,0,0,91016,0,0,1,62426,0,0 -17-43071255-A-G,17,43071255,rs1436309521,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-17T>C,,c.4676-17T>C,intron_variant,,,,2,1458990,0.0000013708113146765913,0,0,nfe,2.999999999999999e-7,14.4,,0.100,0.0200,0.253,,,0,33414,0,0,0,44722,0,0,0,26112,0,0,0,39690,0,0,0,53158,0,0,0,5764,0,0,2,1109624,0,0,,,,,0,86194,0,0,0,60312,0,0 -17-43071256-A-G,17,43071256,rs2153903782,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-18T>C,,c.4676-18T>C,intron_variant,Likely benign,1108971,,1,829608,0.000001205388569059122,0,0,,,8.96,,0.0100,0.0100,0.461,,,0,15708,0,0,0,982,0,0,0,5126,0,0,0,3606,0,0,0,274,0,0,0,1616,0,0,1,758744,0,0,,,,,0,16376,0,0,0,27176,0,0 -17-43071261-A-G,17,43071261,rs2153904185,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-23T>C,,c.4676-23T>C,intron_variant,,,,3,1454432,0.0000020626608875492287,0,0,nfe,7.200000000000001e-7,13.2,,0.120,0.0200,2.04,,,0,33326,0,0,0,44714,0,0,0,26092,0,0,0,39664,0,0,0,52974,0,0,0,5762,0,0,3,1105602,0,0,,,,,0,86118,0,0,0,60180,0,0 -17-43071263-T-C,17,43071263,rs759352570,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-25A>G,,c.4676-25A>G,intron_variant,,,,6,1605740,0.00000373659496556105,0,0,nfe,0.00000184,11.4,,0.340,0.0900,-0.0370,,,0,74722,0,0,0,59988,0,0,0,29562,0,0,0,44858,0,0,0,63550,0,0,0,6076,0,0,6,1172910,0,0,0,912,0,0,0,90924,0,0,0,62238,0,0 -17-43071264-T-G,17,43071264,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-26A>C,,c.4676-26A>C,intron_variant,,,,1,825152,0.0000012118979291088187,0,0,,,5.84,,0.120,0.0400,-0.148,,,0,15606,0,0,0,972,0,0,0,5106,0,0,0,3584,0,0,0,274,0,0,0,1610,0,0,1,754660,0,0,,,,,0,16300,0,0,0,27040,0,0 -17-43071265-T-A,17,43071265,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-27A>T,,c.4676-27A>T,intron_variant,,,,1,1452528,6.884548869281694e-7,0,0,,,7.07,,0.00,0.00,0.187,,,0,33274,0,0,0,44710,0,0,0,26086,0,0,1,39652,0,0,0,52822,0,0,0,5758,0,0,0,1104050,0,0,,,,,0,86074,0,0,0,60102,0,0 -17-43071267-C-T,17,43071267,rs2153904582,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-29G>A,,c.4676-29G>A,intron_variant,,,,1,628084,0.0000015921437259984334,0,0,,,0.0260,,0.00,-0.0100,-2.83,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,52472,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43071269-C-T,17,43071269,rs2153904714,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-31G>A,,c.4676-31G>A,intron_variant,,,,1,822572,0.0000012156990512684604,0,0,,,2.73,,0.00,0.00,-0.578,,,0,15544,0,0,0,964,0,0,0,5078,0,0,0,3566,0,0,0,274,0,0,0,1604,0,0,1,752366,0,0,,,,,0,16222,0,0,0,26954,0,0 -17-43071271-A-G,17,43071271,rs1258487831,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-33T>C,,c.4676-33T>C,intron_variant,,,,1,627884,0.0000015926508718170872,0,0,,,9.62,,0.0600,0.0200,0.315,,,0,17694,0,0,1,43738,0,0,0,20984,0,0,0,36070,0,0,0,52284,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69788,0,0,0,33090,0,0 -17-43071272-C-A,17,43071272,rs369549959,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-34G>T,,c.4676-34G>T,intron_variant,,,,1,1447414,6.908873342388563e-7,0,0,,,2.42,,0.00,0.00,0.707,,,0,33180,0,0,0,44700,0,0,0,26038,0,0,0,39620,0,0,0,52508,0,0,0,5752,0,0,1,1099712,0,0,,,,,0,85958,0,0,0,59946,0,0 -17-43071272-C-T,17,43071272,rs369549959,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-34G>A,,c.4676-34G>A,intron_variant,,,,28,1599444,0.00001750608336396898,0,0,nfe,0.00001041,3.06,,0.00,0.00,0.707,,,0,74556,0,0,0,59958,0,0,3,29504,0,0,1,44822,0,0,0,63084,0,0,0,6068,0,0,19,1167724,0,0,0,912,0,0,2,90780,0,0,3,62036,0,0 -17-43071273-G-T,17,43071273,rs1162815279,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>A,,c.4676-35C>A,intron_variant,,,,2,1445386,0.0000013837134163469135,0,0,nfe,2.999999999999999e-7,4.22,,0.00,0.00,0.704,,,0,33124,0,0,0,44700,0,0,0,26040,0,0,0,39606,0,0,0,52288,0,0,0,5746,0,0,2,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 -17-43071273-G-C,17,43071273,rs1162815279,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>G,,c.4676-35C>G,intron_variant,,,,1,1445386,6.918567081734568e-7,0,0,,,4.08,,0.00,0.00,0.704,,,0,33124,0,0,0,44700,0,0,0,26040,0,0,1,39606,0,0,0,52288,0,0,0,5746,0,0,0,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 -17-43071273-G-A,17,43071273,rs1162815279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>T,,c.4676-35C>T,intron_variant,,,,2,1445386,0.0000013837134163469135,0,0,amr,0.000007420000000000001,4.19,,0.00,0.00,0.704,,,0,33124,0,0,2,44700,0,0,0,26040,0,0,0,39606,0,0,0,52288,0,0,0,5746,0,0,0,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 -17-43071275-T-A,17,43071275,rs2153905022,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-37A>T,,c.4676-37A>T,intron_variant,,,,1,1445116,6.919859720603744e-7,0,0,,,7.58,,0.00,0.00,-0.964,,,0,33110,0,0,0,44704,0,0,0,26024,0,0,0,39596,0,0,0,52264,0,0,0,5752,0,0,0,1097856,0,0,,,,,1,85934,0,0,0,59876,0,0 -17-43071279-T-A,17,43071279,rs1462882793,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-41A>T,,c.4676-41A>T,intron_variant,,,,2,779694,0.0000025651088760462436,0,0,,,8.11,,0.00,0.00,0.0120,,,0,59254,0,0,2,59030,0,0,0,24452,0,0,0,41256,0,0,0,62468,0,0,0,4440,0,0,0,418086,0,0,0,912,0,0,0,74596,0,0,0,35200,0,0 -17-43071280-G-A,17,43071280,rs752640996,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-42C>T,,c.4676-42C>T,intron_variant,,,,17,1441688,0.000011791733024066233,0,0,nfe,0.00000774,5.88,,0.00,0.00,0.348,,,0,33070,0,0,0,44694,0,0,0,26014,0,0,0,39586,0,0,0,51994,0,0,2,5748,0,0,15,1094964,0,0,,,,,0,85848,0,0,0,59770,0,0 -17-43071281-T-G,17,43071281,rs1394855795,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-43A>C,,c.4676-43A>C,intron_variant,,,,5,627244,0.00000797137955883197,0,0,,,8.41,,0.00,0.00,0.421,,,0,17694,0,0,0,43732,0,0,0,20984,0,0,0,36066,0,0,5,51720,0,0,0,4146,0,0,0,350054,0,0,,,,,0,69762,0,0,0,33086,0,0 -17-43071282-T-G,17,43071282,rs989129232,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-44A>C,,c.4676-44A>C,intron_variant,Likely benign,803410,,1,1442434,6.932726211389914e-7,0,0,,,9.90,,0.00,0.00,1.34,,,0,33038,0,0,0,44696,0,0,0,26020,0,0,0,39604,0,0,0,51930,0,0,0,5752,0,0,1,1095688,0,0,,,,,0,85868,0,0,0,59838,0,0 -17-43071282-T-C,17,43071282,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-44A>G,,c.4676-44A>G,intron_variant,,,,1,1442432,6.932735823941787e-7,0,0,,,10.4,,0.0600,0.0200,1.34,,,0,33038,0,0,0,44696,0,0,0,26020,0,0,0,39604,0,0,0,51928,0,0,0,5752,0,0,1,1095688,0,0,,,,,0,85868,0,0,0,59838,0,0 -17-43071288-A-G,17,43071288,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-50T>C,,c.4676-50T>C,intron_variant,,,,1,809592,0.0000012351900710481328,0,0,,,10.7,,0.0800,0.0300,1.28,,,0,15214,0,0,0,952,0,0,0,5000,0,0,0,3500,0,0,0,270,0,0,0,1594,0,0,1,740524,0,0,,,,,0,15992,0,0,0,26546,0,0 -17-43071290-A-G,17,43071290,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-52T>C,,c.4676-52T>C,intron_variant,,,,1,626428,0.0000015963526534573806,0,0,,,11.2,,0.170,0.0600,-0.0810,,,0,17692,0,0,0,43718,0,0,1,20982,0,0,0,36064,0,0,0,51038,0,0,0,4134,0,0,0,349994,0,0,,,,,0,69728,0,0,0,33078,0,0 -17-43071291-A-T,17,43071291,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-53T>A,,c.4676-53T>A,intron_variant,,,,1,626326,0.0000015966126266512967,0,0,,,6.36,,0.00,0.00,-0.0190,,,0,17690,0,0,0,43720,0,0,0,20982,0,0,0,36060,0,0,0,50960,0,0,0,4130,0,0,0,349984,0,0,,,,,0,69724,0,0,1,33076,0,0 -17-43071292-AG-A,17,43071292,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-55del,,c.4676-55del,intron_variant,,,,1,626232,0.000001596852284776249,0,0,,,0.0230,,0.00,0.0100,-1.03,,,0,17686,0,0,0,43708,0,0,0,20982,0,0,0,36058,0,0,0,50888,0,0,0,4134,0,0,0,349988,0,0,,,,,1,69710,0,0,0,33078,0,0 -17-43071293-G-A,17,43071293,rs545107728,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-55C>T,,c.4676-55C>T,intron_variant,Benign,264790,,481,1579362,0.0003045533576216219,1,0,afr,0.005375130000000001,0.0580,,0.00,0.00,-1.59,,,433,74296,1,0,23,59926,0,0,0,29416,0,0,0,44712,0,0,0,61568,0,0,0,5998,0,0,6,1150706,0,0,0,912,0,0,0,90352,0,0,19,61476,0,0 -17-43071295-T-A,17,43071295,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-57A>T,,c.4676-57A>T,intron_variant,,,,1,625568,0.0000015985472402680445,0,0,,,5.14,,0.00,0.00,0.729,,,0,17684,0,0,0,43662,0,0,0,20982,0,0,0,36056,0,0,1,50412,0,0,0,4128,0,0,0,349900,0,0,,,,,0,69688,0,0,0,33056,0,0 -17-43071296-C-T,17,43071296,rs2153905372,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-58G>A,,c.4676-58G>A,intron_variant,,,,1,625452,0.0000015988437162244265,0,0,,,1.98,,0.00,0.00,0.398,,,0,17684,0,0,0,43660,0,0,0,20982,0,0,0,36054,0,0,0,50390,0,0,0,4130,0,0,0,349882,0,0,,,,,1,69618,0,0,0,33052,0,0 -17-43071299-G-T,17,43071299,rs1003412989,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-61C>A,,c.4676-61C>A,intron_variant,,,,1,152152,0.000006572374993427625,0,0,,,0.581,,0.00,0.00,0.658,,,0,41434,0,0,0,15264,0,0,0,3470,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43071299-GTC-G,17,43071299,,GTC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-63_4676-62del,,c.4676-63_4676-62del,intron_variant,,,,1,1419058,7.046928314417028e-7,0,0,,,0.574,,0.00,0.00,0.658,,,0,32564,0,0,0,44534,0,0,0,25884,0,0,1,39482,0,0,0,50170,0,0,0,5684,0,0,0,1076342,0,0,,,,,0,85304,0,0,0,59094,0,0 -17-43071304-T-G,17,43071304,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-66A>C,,c.4676-66A>C,intron_variant,,,,3,1407384,0.0000021316143994815915,0,0,nfe,7.5e-7,1.31,,0.00,0.0100,0.00500,,,0,32296,0,0,0,44330,0,0,0,25798,0,0,0,39426,0,0,0,49250,0,0,0,5656,0,0,3,1066960,0,0,,,,,0,84964,0,0,0,58704,0,0 -17-43071307-T-C,17,43071307,rs1164024851,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-69A>G,,c.4676-69A>G,intron_variant,,,,34,1550150,0.000021933361287617328,0,0,sas,0.0002597100000000001,1.30,,0.00,0.00,0.0630,,,0,73582,0,0,0,59510,0,0,0,29190,0,0,0,44582,0,0,0,59460,0,0,0,5958,0,0,0,1126836,0,0,0,912,0,0,32,89600,0,0,2,60520,0,0 -17-43071307-T-A,17,43071307,rs1164024851,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-69A>T,,c.4676-69A>T,intron_variant,,,,2,1398004,0.000001430611071212958,0,0,nfe,3.1e-7,1.66,,0.160,0.0500,0.0630,,,0,32148,0,0,0,44242,0,0,0,25722,0,0,0,39380,0,0,0,48842,0,0,0,5642,0,0,2,1058826,0,0,,,,,0,84772,0,0,0,58430,0,0 -17-43071309-A-G,17,43071309,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-71T>C,,c.4676-71T>C,intron_variant,,,,2,1377346,0.000001452067962588921,0,0,,,8.78,,0.00,0.00,2.26,,,0,31702,0,0,1,43954,0,0,0,25600,0,0,0,39292,0,0,0,47892,0,0,0,5590,0,0,1,1041356,0,0,,,,,0,84152,0,0,0,57808,0,0 -17-43071310-G-A,17,43071310,rs2153906713,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-72C>T,,c.4676-72C>T,intron_variant,,,,1,619932,0.0000016130801442738881,0,0,,,2.91,,0.0200,0.0100,2.60,,,0,17558,0,0,0,43060,0,0,0,20916,0,0,0,36024,0,0,0,47536,0,0,0,4092,0,0,1,348566,0,0,,,,,0,69228,0,0,0,32952,0,0 -17-43071311-A-T,17,43071311,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-73T>A,,c.4676-73T>A,intron_variant,,,,1,757300,0.0000013204806549584049,0,0,,,4.50,,0.00,0.00,1.28,,,0,14144,0,0,0,880,0,0,0,4680,0,0,0,3264,0,0,0,254,0,0,0,1496,0,0,1,692840,0,0,,,,,0,14896,0,0,0,24846,0,0 -17-43071313-T-C,17,43071313,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-75A>G,,c.4676-75A>G,intron_variant,,,,1,758898,0.0000013177001388855947,0,0,,,1.09,,0.0200,0.0200,-0.113,,,0,14146,0,0,0,882,0,0,0,4690,0,0,0,3262,0,0,0,254,0,0,0,1502,0,0,1,694386,0,0,,,,,0,14930,0,0,0,24846,0,0 -17-43074260-C-T,17,43074260,rs2052580415,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+71G>A,,c.4675+71G>A,intron_variant,,,,3,1568138,0.0000019130969340708535,0,0,,,6.52,,0.00,0.00,0.130,,,0,73970,0,0,0,58306,0,0,0,28928,0,0,0,44560,0,0,0,63110,0,0,0,5996,0,0,2,1142950,0,0,0,912,0,0,0,88430,0,0,1,60976,0,0 -17-43074265-ATATCTT-A,17,43074265,,ATATCTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+60_4675+65del,,c.4675+60_4675+65del,intron_variant,,,,1,621210,0.000001609761594307883,0,0,,,12.9,,0.00,0.00,-1.14,,,0,17556,0,0,0,42706,0,0,0,20694,0,0,0,35978,0,0,0,52548,0,0,0,4128,0,0,0,346384,0,0,,,,,0,68418,0,0,1,32798,0,0 -17-43074265-A-G,17,43074265,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+66T>C,,c.4675+66T>C,intron_variant,,,,1,621210,0.000001609761594307883,0,0,,,6.85,,0.00,0.00,-1.14,,,0,17556,0,0,0,42706,0,0,0,20694,0,0,0,35978,0,0,0,52548,0,0,0,4128,0,0,0,346384,0,0,,,,,1,68418,0,0,0,32798,0,0 -17-43074267-A-G,17,43074267,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+64T>C,,c.4675+64T>C,intron_variant,,,,1,1431030,6.987973697267003e-7,0,0,,,12.9,,0.00,-0.0100,1.09,,,0,32842,0,0,0,43806,0,0,0,25726,0,0,0,39480,0,0,0,52918,0,0,0,5708,0,0,0,1086686,0,0,,,,,0,84548,0,0,1,59316,0,0 -17-43074267-ATCTTTATGTAGGATTCAGAG-A,17,43074267,,ATCTTTATGTAGGATTCAGAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+44_4675+63del,,c.4675+44_4675+63del,intron_variant,,,,2,1431030,0.0000013975947394534007,0,0,nfe,3.1e-7,17.4,,0.00,0.0100,1.09,,,0,32842,0,0,0,43806,0,0,0,25726,0,0,0,39480,0,0,0,52918,0,0,0,5708,0,0,2,1086686,0,0,,,,,0,84548,0,0,0,59316,0,0 -17-43074268-T-A,17,43074268,rs1417939677,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+63A>T,,c.4675+63A>T,intron_variant,,,,31,1585690,0.000019549848961650764,0,0,nfe,0.00001921,10.7,,0.00,0.00,-0.0800,,,0,74382,0,0,0,59194,0,0,0,29246,0,0,0,44722,0,0,0,63556,0,0,0,6030,0,0,31,1156608,0,0,0,912,0,0,0,89534,0,0,0,61506,0,0 -17-43074269-C-T,17,43074269,rs2153984593,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+62G>A,,c.4675+62G>A,intron_variant,,,,1,623998,0.0000016025692390039711,0,0,,,14.2,,0.00,0.00,2.98,,,0,17640,0,0,0,43116,0,0,0,20780,0,0,0,36024,0,0,0,52686,0,0,0,4132,0,0,0,347852,0,0,,,,,1,68864,0,0,0,32904,0,0 -17-43074269-C-A,17,43074269,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+62G>T,,c.4675+62G>T,intron_variant,,,,1,623998,0.0000016025692390039711,0,0,,,13.7,,0.00,0.00,2.98,,,0,17640,0,0,0,43116,0,0,0,20780,0,0,1,36024,0,0,0,52686,0,0,0,4132,0,0,0,347852,0,0,,,,,0,68864,0,0,0,32904,0,0 -17-43074273-A-G,17,43074273,rs922742038,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+58T>C,,c.4675+58T>C,intron_variant,,,,3,1437760,0.0000020865791230803473,0,0,,,17.5,,0.00,-0.0100,2.16,,,0,32992,0,0,0,44260,0,0,0,25874,0,0,0,39558,0,0,0,53090,0,0,3,5718,0,0,0,1091540,0,0,,,,,0,85142,0,0,0,59586,0,0 -17-43074274-T-C,17,43074274,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+57A>G,,c.4675+57A>G,intron_variant,,,,3,1439202,0.0000020844884873700843,0,0,sas,0.00000935,12.8,,0.00,0.00,0.0400,,,0,33020,0,0,0,44306,0,0,0,25882,0,0,0,39560,0,0,0,53140,0,0,0,5722,0,0,0,1092702,0,0,,,,,3,85246,0,0,0,59624,0,0 -17-43074275-G-T,17,43074275,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+56C>A,,c.4675+56C>A,intron_variant,,,,1,1439780,6.945505563349956e-7,0,0,,,6.74,,0.00,0.00,-0.621,,,0,33076,0,0,0,44348,0,0,0,25898,0,0,0,39572,0,0,0,53110,0,0,0,5712,0,0,1,1093098,0,0,,,,,0,85308,0,0,0,59658,0,0 -17-43074276-T-C,17,43074276,rs934064952,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+55A>G,,c.4675+55A>G,intron_variant,Benign,1686624,,107,1595204,0.00006707606049132275,0,0,afr,0.0011011199999999997,8.10,,0.00,-0.0100,-2.44,,,98,74682,0,0,8,59718,0,0,0,29402,0,0,0,44780,0,0,0,63800,0,0,0,6020,0,0,0,1163782,0,0,0,912,0,0,0,90240,0,0,1,61868,0,0 -17-43074277-A-G,17,43074277,rs1301488802,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+54T>C,,c.4675+54T>C,intron_variant,,,,2,1594186,0.000001254558752868235,0,0,,,12.5,,0.00,0.00,0.115,,,1,74568,0,0,0,59684,0,0,0,29404,0,0,0,44780,0,0,0,63816,0,0,0,6040,0,0,1,1162948,0,0,0,912,0,0,0,90224,0,0,0,61810,0,0 -17-43074278-G-T,17,43074278,rs869312522,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+53C>A,,c.4675+53C>A,intron_variant,Likely benign,223582,,93,1594746,0.00005831649679635503,3,0,eas,0.0003136900000000001,11.0,,0.00,0.00,-0.187,,,0,74538,0,0,2,59702,0,0,0,29424,0,0,21,44788,1,0,0,63754,0,0,0,6042,0,0,1,1163436,0,0,0,910,0,0,0,90318,0,0,69,61834,2,0 -17-43074281-T-G,17,43074281,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+50A>C,,c.4675+50A>C,intron_variant,,,,1,820202,0.0000012192118526899472,0,0,,,11.1,,0.00,0.00,-0.420,,,0,15532,0,0,0,966,0,0,0,5074,0,0,0,3572,0,0,0,272,0,0,0,1596,0,0,0,750108,0,0,,,,,1,16222,0,0,0,26860,0,0 -17-43074282-T-C,17,43074282,rs1236443418,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+49A>G,,c.4675+49A>G,intron_variant,,,,23,1600478,0.000014370706751358032,0,0,nfe,0.00001233,16.5,,0.0100,-0.0300,1.41,,,0,74686,0,0,0,59852,0,0,0,29494,0,0,0,44828,0,0,0,63946,0,0,0,6056,0,0,22,1168106,0,0,0,912,0,0,0,90594,0,0,1,62004,0,0 -17-43074283-C-A,17,43074283,rs2153984978,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+48G>T,,c.4675+48G>T,intron_variant,,,,1,1448582,6.903302678067241e-7,0,0,,,1.22,,0.00,0.00,0.147,,,0,33228,0,0,0,44558,0,0,0,26028,0,0,0,39624,0,0,0,53310,0,0,0,5742,0,0,1,1100460,0,0,,,,,0,85724,0,0,0,59908,0,0 -17-43074286-A-T,17,43074286,rs2153985097,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+45T>A,,c.4675+45T>A,intron_variant,,,,1,627954,0.0000015924733340340215,0,0,,,17.3,,0.0100,-0.0100,2.57,,,0,17676,0,0,0,43638,0,0,0,20960,0,0,0,36058,0,0,0,53086,0,0,0,4142,0,0,1,349704,0,0,,,,,0,69626,0,0,0,33064,0,0 -17-43074291-AAT-A,17,43074291,,AAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+38_4675+39del,,c.4675+38_4675+39del,intron_variant,,,,2,1455946,0.0000013736773204500716,0,0,nfe,2.999999999999999e-7,16.2,,0.00,0.0100,1.44,,,0,33382,0,0,0,44648,0,0,0,26082,0,0,0,39668,0,0,0,53378,0,0,0,5754,0,0,2,1106832,0,0,,,,,0,86010,0,0,0,60192,0,0 -17-43074291-A-T,17,43074291,rs2153985168,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+40T>A,,c.4675+40T>A,intron_variant,,,,3,1455946,0.0000020605159806751077,0,0,nfe,7.200000000000001e-7,18.8,,0.0100,-0.0100,1.44,,,0,33382,0,0,0,44648,0,0,0,26082,0,0,0,39668,0,0,0,53378,0,0,0,5754,0,0,3,1106832,0,0,,,,,0,86010,0,0,0,60192,0,0 -17-43074294-CAA-C,17,43074294,,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+35_4675+36del,,c.4675+35_4675+36del,intron_variant,,,,1,1456794,6.864388513406838e-7,0,0,,,11.5,,0.0200,-0.0200,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,1,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 -17-43074294-C-A,17,43074294,rs2153985237,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>T,,c.4675+37G>T,intron_variant,,,,1,1456792,6.864397937385707e-7,0,0,,,11.1,,0.0200,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,0,1107674,0,0,,,,,1,85984,0,0,0,60216,0,0 -17-43074294-C-G,17,43074294,rs2153985237,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>C,,c.4675+37G>C,intron_variant,,,,2,1456794,0.0000013728777026813675,0,0,nfe,2.999999999999999e-7,11.5,,0.0200,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,2,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 -17-43074294-C-T,17,43074294,rs2153985237,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>A,,c.4675+37G>A,intron_variant,,,,6,1456794,0.0000041186331080441025,0,0,nfe,0.00000195,11.6,,0.00,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,6,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 -17-43074299-T-C,17,43074299,rs762883588,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+32A>G,,c.4675+32A>G,intron_variant,,,,35,1610816,0.000021728117922841592,0,0,sas,0.00021789,9.37,,0.00,0.00,-0.159,,,0,74868,0,0,0,59958,0,0,0,29586,0,0,0,44854,0,0,1,64012,0,0,0,6074,0,0,0,1177224,0,0,0,912,0,0,28,90948,0,0,6,62380,0,0 -17-43074303-T-C,17,43074303,rs763538386,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+28A>G,,c.4675+28A>G,intron_variant,,,,3,780556,0.000003843414181685876,0,0,nfe,0.0000019100000000000003,10.8,,0.00,0.00,0.666,,,0,59138,0,0,0,58978,0,0,0,24448,0,0,0,41252,0,0,0,63732,0,0,0,4458,0,0,3,417894,0,0,0,912,0,0,0,74580,0,0,0,35164,0,0 -17-43074304-G-T,17,43074304,rs751058529,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+27C>A,,c.4675+27C>A,intron_variant,,,,2,1459764,0.0000013700844794090004,0,0,,,6.40,,0.00,0.00,0.0890,,,0,33428,0,0,0,44694,0,0,0,26124,0,0,0,39684,0,0,0,53410,0,0,0,5760,0,0,1,1110170,0,0,,,,,0,86174,0,0,1,60320,0,0 -17-43074304-G-A,17,43074304,rs751058529,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+27C>T,,c.4675+27C>T,intron_variant,,,,1,1459770,6.850394240188523e-7,0,0,,,6.90,,0.00,0.00,0.0890,,,0,33428,0,0,0,44694,0,0,0,26124,0,0,0,39684,0,0,0,53410,0,0,0,5760,0,0,1,1110176,0,0,,,,,0,86174,0,0,0,60320,0,0 -17-43074307-C-T,17,43074307,rs1326960724,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+24G>A,,c.4675+24G>A,intron_variant,,,,5,1460670,0.0000034230866657082022,0,0,nfe,0.0000013199999999999999,11.4,,0.00,0.00,2.00,,,0,33450,0,0,0,44692,0,0,0,26122,0,0,0,39690,0,0,0,53408,0,0,0,5762,0,0,5,1111026,0,0,,,,,0,86172,0,0,0,60348,0,0 -17-43074311-T-A,17,43074311,rs780870669,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+20A>T,,c.4675+20A>T,intron_variant,,,,1,628522,0.0000015910342040533187,0,0,,,6.43,,0.00,0.00,0.469,,,0,17686,0,0,0,43730,0,0,0,20980,0,0,0,36064,0,0,0,53136,0,0,0,4144,0,0,0,349918,0,0,,,,,1,69784,0,0,0,33080,0,0 -17-43074311-T-C,17,43074311,rs780870669,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+20A>G,,c.4675+20A>G,intron_variant,Conflicting interpretations of pathogenicity,383202,,5,780740,0.00000640418064912775,0,0,nfe,0.0000045,7.28,,0.0200,-0.0100,0.469,,,0,59144,0,0,0,59012,0,0,0,24448,0,0,0,41254,0,0,0,63756,0,0,0,4460,0,0,5,417966,0,0,0,912,0,0,0,74616,0,0,0,35172,0,0 -17-43074313-C-T,17,43074313,rs1388998083,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4675+18G>A,,c.4675+18G>A,intron_variant,Likely benign,630532,,2,152200,0.00001314060446780552,0,0,amr,0.000022610000000000002,1.02,,0.00,0.00,-1.28,,,0,41456,0,0,2,15284,0,0,0,3470,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43074315-G-A,17,43074315,rs2153985953,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+16C>T,,c.4675+16C>T,intron_variant,Likely benign,1136181,,9,832544,0.00001081023945881539,0,0,nfe,0.00000556,9.61,,0.00,0.00,0.800,,,0,15774,0,0,0,982,0,0,0,5150,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,9,761422,0,0,,,,,0,16430,0,0,0,27268,0,0 -17-43074317-A-T,17,43074317,rs2052583222,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+14T>A,,c.4675+14T>A,intron_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,18.2,,0.0200,-0.0300,1.29,,,0,33468,0,0,0,44714,0,0,0,26132,0,0,0,39694,0,0,0,53420,0,0,0,5764,0,0,1,1111592,0,0,,,,,0,86234,0,0,0,60364,0,0 -17-43074317-A-G,17,43074317,rs2052583222,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+14T>C,,c.4675+14T>C,intron_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,18.5,,0.0100,0.0100,1.29,,,0,33468,0,0,0,44714,0,0,0,26132,0,0,0,39694,0,0,0,53420,0,0,0,5764,0,0,0,1111592,0,0,,,,,1,86234,0,0,0,60364,0,0 -17-43074318-G-C,17,43074318,rs2153986057,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+13C>G,,c.4675+13C>G,intron_variant,,,,1,1461370,6.842893996729097e-7,0,0,,,13.7,,0.0500,0.0100,3.02,,,0,33464,0,0,1,44714,0,0,0,26132,0,0,0,39692,0,0,0,53418,0,0,0,5762,0,0,0,1111586,0,0,,,,,0,86232,0,0,0,60370,0,0 -17-43074320-T-A,17,43074320,rs750095985,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+11A>T,,c.4675+11A>T,intron_variant,Likely benign,627814,,2,1459864,0.0000013699906292640958,0,0,nfe,2.999999999999999e-7,16.5,,0.00,0.00,0.746,,,0,33438,0,0,0,44712,0,0,0,26126,0,0,0,39684,0,0,0,53420,0,0,0,5754,0,0,2,1110208,0,0,,,,,0,86196,0,0,0,60326,0,0 -17-43074320-T-C,17,43074320,rs750095985,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+11A>G,,c.4675+11A>G,intron_variant,Likely benign,371985,,16,1612054,0.000009925225829903962,0,0,amr,0.00008997999999999999,16.9,,0.0100,0.0100,0.746,,,2,74872,0,0,10,59994,0,0,0,29596,0,0,0,44878,0,0,0,64034,0,0,0,6070,0,0,0,1178252,0,0,0,912,0,0,3,91028,0,0,1,62418,0,0 -17-43074321-G-A,17,43074321,rs1057522769,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+10C>T,,c.4675+10C>T,intron_variant,Likely benign,387365,,2,1461456,0.0000013684982647442003,0,0,,,14.9,,0.0800,0.0300,0.407,,,1,33468,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53414,0,0,0,5764,0,0,1,1111666,0,0,,,,,0,86232,0,0,0,60370,0,0 -17-43074324-A-G,17,43074324,rs273900739,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+7T>C,,c.4675+7T>C,splice_region_variant,Likely benign,37603,,3,1461602,0.0000020525423473695302,0,0,eas,0.00000835,8.32,,0.0100,0.0200,-0.466,,,0,33472,0,0,0,44714,0,0,0,26132,0,0,2,39696,0,0,0,53416,0,0,0,5764,0,0,1,1111784,0,0,,,,,0,86246,0,0,0,60378,0,0 -17-43074327-T-G,17,43074327,rs2153986310,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+4A>C,,c.4675+4A>C,intron_variant,,,,1,833046,0.0000012004139027136558,0,0,,,20.4,,0.260,0.270,0.536,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761842,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43074329-A-T,17,43074329,rs879255293,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+2T>A,,c.4675+2T>A,splice_donor_variant,Pathogenic,267554,,1,833034,0.0000012004311948852028,0,0,,,35.0,,0.960,-0.870,6.33,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761830,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074331-C-T,17,43074331,rs80356988,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1559Lys,p.Glu1559Lys,c.4675G>A,missense_variant,Pathogenic,37604,,2,780666,0.0000025619150827626666,0,0,,,35.0,0.765,0.770,-0.780,7.10,0.100,0.00600,0,59098,0,0,0,58994,0,0,0,24452,0,0,0,41256,0,0,1,63750,0,0,0,4460,0,0,1,417962,0,0,0,912,0,0,0,74614,0,0,0,35168,0,0 -17-43074332-T-C,17,43074332,rs996042036,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1558Leu,p.Leu1558Leu,c.4674A>G,splice_region_variant,Uncertain significance,479230,,1,628572,0.000001590907644629414,0,0,,,19.4,,0.520,0.500,1.54,,,1,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4144,0,0,0,349946,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43074335-A-C,17,43074335,rs1597835696,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1557Glu,p.Asp1557Glu,c.4671T>G,missense_variant,Uncertain significance,658642,,1,833060,0.000001200393729143159,0,0,,,8.05,0.586,0.0600,0.0700,-0.375,0.320,0.103,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761856,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074337-C-G,17,43074337,rs80356906,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1557His,p.Asp1557His,c.4669G>C,missense_variant,Conflicting interpretations of pathogenicity,55255,,26,1613854,0.00001611050318058511,0,0,amr,0.00007733999999999997,23.2,0.581,0.00,0.00,2.38,0.00,0.473,0,74912,0,0,9,59982,0,0,0,29602,0,0,0,44898,0,0,0,64032,0,0,0,6080,0,0,16,1179890,0,0,0,912,0,0,0,91072,0,0,1,62474,0,0 -17-43074338-T-A,17,43074338,rs1485442602,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1556His,p.Gln1556His,c.4668A>T,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,15.8,0.583,0.00,-0.0100,0.553,0.0100,0.473,0,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,1,53142,0,0,0,4144,0,0,0,349970,0,0,,,,,0,69788,0,0,0,33082,0,0 -17-43074341-C-T,17,43074341,rs878854952,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1555Arg,p.Arg1555Arg,c.4665G>A,synonymous_variant,Likely benign,240805,,9,1461708,0.000006157180503903652,0,0,nfe,0.00000381,4.04,,0.00,0.00,1.09,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5764,0,0,9,1111876,0,0,,,,,0,86250,0,0,0,60380,0,0 -17-43074342-C-T,17,43074342,rs786202165,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1555Lys,p.Arg1555Lys,c.4664G>A,missense_variant,Uncertain significance,185428,,1,833108,0.0000012003245677631232,0,0,,,11.4,0.558,0.00,0.00,1.28,0.410,0.0240,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43074347-C-T,17,43074347,rs2052588528,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1553Leu,p.Leu1553Leu,c.4659G>A,synonymous_variant,,,,1,1461724,6.841236786151148e-7,0,0,,,6.09,,0.0100,0.0400,3.46,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111896,0,0,,,,,0,86250,0,0,0,60378,0,0 -17-43074347-CAAGT-C,17,43074347,rs80357561,CAAGT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1552CysfsTer6,p.Tyr1552CysfsTer6,c.4655_4658del,frameshift_variant,Pathogenic,55252,lof_flag,1,1461726,6.841227425659802e-7,0,0,,,32.0,,0.100,0.0300,3.46,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111898,0,0,,,,,0,86250,0,0,0,60378,0,0 -17-43074349-A-G,17,43074349,rs80357431,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1553Leu,p.Leu1553Leu,c.4657T>C,synonymous_variant,Likely benign,427315,,7,780818,0.00000896495726276802,0,0,afr,0.00005503999999999998,3.93,,0.00,0.00,0.125,,,7,59140,0,0,0,59002,0,0,0,24450,0,0,0,41268,0,0,0,63762,0,0,0,4460,0,0,0,418034,0,0,0,912,0,0,0,74618,0,0,0,35172,0,0 -17-43074349-A-T,17,43074349,rs80357431,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1553Met,p.Leu1553Met,c.4657T>A,missense_variant,Conflicting interpretations of pathogenicity,55254,,2,628618,0.0000031815824554817074,0,0,nfe,9.5e-7,18.5,0.622,0.0300,0.00,0.125,0.0500,0.473,0,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4144,0,0,2,349992,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43074352-A-G,17,43074352,rs1265352633,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1552His,p.Tyr1552His,c.4654T>C,missense_variant,Conflicting interpretations of pathogenicity,433716,,53,1461742,0.00003625810847605118,0,0,nfe,0.00003717,8.22,0.500,0.0400,0.0100,-0.237,0.510,0.00300,0,33472,0,0,0,44714,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5766,0,0,53,1111906,0,0,,,,,0,86250,0,0,0,60384,0,0 -17-43074353-A-G,17,43074353,rs587780863,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1551Ser,p.Ser1551Ser,c.4653T>C,synonymous_variant,Likely benign,136549,,116,1613948,0.00007187344325839494,0,0,nfe,0.00007906,3.21,,0.0300,0.0100,-0.231,,,1,74928,0,0,0,59980,0,0,0,29602,0,0,0,44898,0,0,0,64042,0,0,0,6082,0,0,110,1179946,0,0,0,912,0,0,0,91080,0,0,5,62478,0,0 -17-43074355-A-G,17,43074355,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1551Pro,p.Ser1551Pro,c.4651T>C,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,9.09,0.552,0.00,0.00,0.160,0.0900,0.00,0,17686,0,0,0,43730,0,0,1,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350010,0,0,,,,,0,69788,0,0,0,33090,0,0 -17-43074356-T-A,17,43074356,rs876658608,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1550Thr,p.Thr1550Thr,c.4650A>T,synonymous_variant,Likely benign,491083,,1,152204,0.000006570129562954982,0,0,,,0.541,,0.0100,-0.0100,-0.221,,,0,41458,0,0,0,15268,0,0,0,3468,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43074357-G-A,17,43074357,rs80357076,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1550Ile,p.Thr1550Ile,c.4649C>T,missense_variant,Uncertain significance,55251,,4,780840,0.000005122688386865427,0,0,nfe,0.0000019100000000000003,0.0860,0.556,0.00,-0.0400,-1.76,0.0800,0.00,0,59144,0,0,1,59002,0,0,0,24452,0,0,0,41264,0,0,0,63754,0,0,0,4462,0,0,3,418050,0,0,0,912,0,0,0,74616,0,0,0,35184,0,0 -17-43074358-T-C,17,43074358,rs1193177255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1550Ala,p.Thr1550Ala,c.4648A>G,missense_variant,Uncertain significance,954020,,1,628642,0.0000015907304952580323,0,0,,,5.18,0.504,0.00,0.00,2.14,0.330,0.00,0,17686,0,0,0,43730,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350010,0,0,,,,,1,69788,0,0,0,33090,0,0 -17-43074359-T-G,17,43074359,rs1371814796,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1549Asp,p.Glu1549Asp,c.4647A>C,missense_variant,Uncertain significance,482929,,2,628646,0.000003181440747256803,0,0,amr,0.000007580000000000001,4.02,0.586,0.0200,0.00,0.130,0.280,0.00100,0,17686,0,0,2,43730,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350014,0,0,,,,,0,69788,0,0,0,33090,0,0 -17-43074362-C-T,17,43074362,rs28897692,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1548Thr,p.Thr1548Thr,c.4644G>A,synonymous_variant,Likely benign,184245,,223,1613864,0.0001381776903134341,0,0,nfe,0.00016546,1.18,,0.00,-0.0500,0.170,,,0,74896,0,0,1,59972,0,0,0,29602,0,0,0,44892,0,0,0,64016,0,0,0,6082,0,0,219,1179950,0,0,0,912,0,0,0,91066,0,0,3,62476,0,0 -17-43074363-G-A,17,43074363,rs273900737,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1548Met,p.Thr1548Met,c.4643C>T,missense_variant,Conflicting interpretations of pathogenicity,55249,,6,1613914,0.000003717670210432526,0,0,nfe,0.0000012399999999999998,0.139,0.527,0.00,-0.0200,-0.999,1.00,0.00,0,74918,0,0,1,59978,0,0,0,29602,0,0,0,44890,0,0,0,64028,0,0,0,6082,0,0,5,1179956,0,0,0,912,0,0,0,91070,0,0,0,62478,0,0 -17-43074370-C-G,17,43074370,rs28897691,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1546His,p.Asp1546His,c.4636G>C,missense_variant,Uncertain significance,479201,,7,1461786,0.000004788662635980916,0,0,sas,0.00002995,8.89,0.572,0.0300,-0.0300,0.102,0.160,0.607,0,33472,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111954,0,0,,,,,6,86248,0,0,1,60384,0,0 -17-43074370-C-A,17,43074370,rs28897691,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1546Tyr,p.Asp1546Tyr,c.4636G>T,missense_variant,Benign,55246,,14,1613954,0.000008674348835220831,0,0,nfe,0.000006880000000000001,8.48,0.588,0.00,-0.0400,0.102,0.0100,0.607,0,74902,0,0,0,59976,0,0,0,29604,0,0,0,44890,0,0,0,64038,0,0,0,6082,0,0,14,1179998,0,0,0,912,0,0,0,91074,0,0,0,62478,0,0 -17-43074370-C-T,17,43074370,rs28897691,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1546Asn,p.Asp1546Asn,c.4636G>A,missense_variant,Benign,55245,,202,1614072,0.0001251493118026953,0,0,sas,0.00019906,0.525,0.285,0.00,-0.0300,0.102,0.830,0.0560,2,75024,0,0,2,59996,0,0,31,29604,0,0,0,44878,0,0,0,64038,0,0,11,6060,0,0,111,1179990,0,0,0,912,0,0,26,91070,0,0,19,62500,0,0 -17-43074371-G-C,17,43074371,rs373686790,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1545Gln,p.His1545Gln,c.4635C>G,missense_variant,Conflicting interpretations of pathogenicity,409336,,10,1461792,0.000006840918543814715,0,0,nfe,0.00000455,0.00200,0.570,0.0200,0.00,-1.15,0.990,0.00100,0,33472,0,0,0,44712,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,10,1111958,0,0,,,,,0,86248,0,0,0,60388,0,0 -17-43074371-G-A,17,43074371,rs373686790,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1545His,p.His1545His,c.4635C>T,synonymous_variant,Likely benign,377572,,11,1613904,0.0000068157709504406705,0,0,afr,0.00001747,0.0400,,0.00,-0.0100,-1.15,,,4,74886,0,0,1,59984,0,0,0,29600,0,0,0,44884,0,0,0,64020,0,0,0,6082,0,0,4,1179990,0,0,0,912,0,0,2,91070,0,0,0,62476,0,0 -17-43074373-G-A,17,43074373,rs2153996148,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1545Tyr,p.His1545Tyr,c.4633C>T,missense_variant,Uncertain significance,1466706,,1,833110,0.0000012003216862119048,0,0,,,14.5,0.481,0.00,0.00,1.85,0.0200,0.0890,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074376-GC-G,17,43074376,,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1544HisfsTer4,p.Pro1544HisfsTer4,c.4629del,frameshift_variant,,,lof_flag,1,833108,0.0000012003245677631232,0,0,,,20.8,,0.00,-0.120,0.273,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074377-C-T,17,43074377,rs1555581858,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1543Gly,p.Gly1543Gly,c.4629G>A,synonymous_variant,Likely benign,531496,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,0.950,,0.0500,0.00,0.290,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074379-CAG-C,17,43074379,rs80357542,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542TrpfsTer31,p.Ser1542TrpfsTer31,c.4625_4626del,frameshift_variant,Pathogenic,55243,lof_flag,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,23.7,,0.0800,0.0100,2.47,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074381-G-C,17,43074381,rs41293457,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542Cys,p.Ser1542Cys,c.4625C>G,missense_variant,Conflicting interpretations of pathogenicity,55242,,36,1461816,0.00002462690242821258,0,0,nfe,0.0000237,10.5,0.421,0.0100,-0.0100,0.230,0.110,0.628,0,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,36,1111974,0,0,,,,,0,86248,0,0,0,60390,0,0 -17-43074382-A-G,17,43074382,rs2052595821,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542Pro,p.Ser1542Pro,c.4624T>C,missense_variant,Uncertain significance,920744,,1,1461826,6.840759433749297e-7,0,0,,,16.3,0.447,0.0100,0.00,0.0620,0.230,0.00900,1,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111980,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43074382-ACT-A,17,43074382,rs886040241,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1541ValfsTer32,p.Glu1541ValfsTer32,c.4622_4623del,frameshift_variant,Pathogenic,266488,lof_flag,1,1461826,6.840759433749297e-7,0,0,,,23.2,,0.0200,0.00,0.0620,,,0,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111980,0,0,,,,,0,86252,0,0,1,60390,0,0 -17-43074383-C-T,17,43074383,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1541Glu,p.Glu1541Glu,c.4623G>A,synonymous_variant,,,,1,628706,0.000001590568564639116,0,0,,,1.41,,0.00,0.00,2.67,,,0,17688,0,0,0,43728,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4146,0,0,0,350070,0,0,,,,,1,69790,0,0,0,33092,0,0 -17-43074386-T-C,17,43074386,rs769566412,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1540Glu,p.Glu1540Glu,c.4620A>G,synonymous_variant,Likely benign,481424,,1,628718,0.000001590538206318254,0,0,,,0.260,,0.00,-0.0100,-1.43,,,0,17688,0,0,0,43732,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43074388-C-G,17,43074388,rs80357277,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1540Gln,p.Glu1540Gln,c.4618G>C,missense_variant,Uncertain significance,825047,,1,833108,0.0000012003245677631232,0,0,,,5.12,0.614,0.00,-0.0400,0.540,0.500,0.0730,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074390-A-G,17,43074390,rs377629427,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1539Pro,p.Leu1539Pro,c.4616T>C,missense_variant,Uncertain significance,409342,,8,833108,0.000009602596542104985,0,0,nfe,0.00000452,9.16,0.627,0.00,0.00,-0.219,0.170,0.0910,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,8,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074391-G-A,17,43074391,rs2154000691,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1539Leu,p.Leu1539Leu,c.4615C>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.33,,0.00,-0.0200,1.64,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074392-C-T,17,43074392,rs1555581876,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1538Gln,p.Gln1538Gln,c.4614G>A,synonymous_variant,Likely benign,482910,,3,1461838,0.0000020522109837068127,0,0,nfe,7.200000000000001e-7,0.193,,0.0100,0.00,-2.61,,,0,33474,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5766,0,0,3,1111984,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43074400-C-A,17,43074400,rs876660460,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1536Ter,p.Glu1536Ter,c.4606G>T,stop_gained,Pathogenic,935901,lof_flag,1,628730,0.0000015905078491562355,0,0,,,32.0,,0.00,-0.240,1.02,,,0,17692,0,0,0,43736,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43074400-C-T,17,43074400,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1536Lys,p.Glu1536Lys,c.4606G>A,missense_variant,Likely benign,1741846,,1,628730,0.0000015905078491562355,0,0,,,0.602,0.560,0.00,-0.0100,1.02,0.160,0.00600,0,17692,0,0,0,43736,0,0,0,20984,0,0,1,36070,0,0,0,53144,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43074403-C-A,17,43074403,rs80357366,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1535Ter,p.Glu1535Ter,c.4603G>T,stop_gained,Pathogenic,55236,lof_flag,2,152192,0.000013141295206055508,0,0,afr,0.000008,34.0,,0.170,-0.420,0.965,,,2,41454,0,0,0,15272,0,0,0,3470,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43074406-C-T,17,43074406,rs55815649,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1534Met,p.Val1534Met,c.4600G>A,missense_variant,Benign,55235,,531,1614162,0.00032896326391031384,1,0,afr,0.004261100000000001,0.584,0.585,0.00,-0.0200,-1.05,0.110,0.00600,350,75050,1,0,33,60012,0,0,0,29602,0,0,0,44880,0,0,1,64036,0,0,2,6062,0,0,113,1180018,0,0,0,912,0,0,0,91084,0,0,32,62506,0,0 -17-43074407-A-G,17,43074407,rs1131692095,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1533Asp,p.Asp1533Asp,c.4599T>C,synonymous_variant,Likely benign,427286,,1,628748,0.0000015904623155858944,0,0,,,3.33,,0.00,0.00,-0.103,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43074409-C-A,17,43074409,rs899108857,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1533Tyr,p.Asp1533Tyr,c.4597G>T,missense_variant,Uncertain significance,441437,,8,1461858,0.00000547248775188835,0,0,sas,0.00000924,21.2,0.592,0.00,-0.0500,0.646,0.0200,0.00300,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1111988,0,0,,,,,3,86256,0,0,0,60392,0,0 -17-43074410-A-G,17,43074410,rs1567777953,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1532Val,p.Val1532Val,c.4596T>C,synonymous_variant,Likely benign,628947,,3,1461858,0.0000020521829069581315,0,0,nfe,7.200000000000001e-7,3.81,,0.00,0.00,-0.277,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43074415-C-A,17,43074415,rs1555581897,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1531Phe,p.Val1531Phe,c.4591G>T,missense_variant,Uncertain significance,801079,,1,833104,0.0000012003303309070656,0,0,,,8.22,0.560,0.00,0.00,0.0420,0.0200,0.154,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074415-C-T,17,43074415,rs1555581897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1531Ile,p.Val1531Ile,c.4591G>A,missense_variant,Uncertain significance,485392,,1,833104,0.0000012003303309070656,0,0,,,0.530,0.546,0.00,0.00,0.0420,0.320,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074417-T-A,17,43074417,rs398122689,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1530Met,p.Lys1530Met,c.4589A>T,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,20.5,0.496,0.00,0.00,0.234,0.0200,0.101,0,17692,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53144,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43074418-T-C,17,43074418,rs764016240,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1530Glu,p.Lys1530Glu,c.4588A>G,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,5.14,0.553,0.00,0.00,-0.0850,0.500,0.0230,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43074420-A-G,17,43074420,rs1597836187,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1529Thr,p.Ile1529Thr,c.4586T>C,missense_variant,Uncertain significance,1741675,,1,628760,0.0000015904319613206948,0,0,,,2.32,0.550,0.00,0.00,-0.495,0.170,0.0230,0,17692,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43074421-T-C,17,43074421,rs80357095,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1529Val,p.Ile1529Val,c.4585A>G,missense_variant,Conflicting interpretations of pathogenicity,55233,,5,1613666,0.0000030985346409975794,0,0,afr,0.000025490000000000005,0.795,0.531,0.00,0.00,-2.23,0.890,0.00,5,74934,0,0,0,59998,0,0,0,29602,0,0,0,44894,0,0,0,64046,0,0,0,6082,0,0,0,1179646,0,0,0,912,0,0,0,91080,0,0,0,62472,0,0 -17-43074423-A-G,17,43074423,rs1555581911,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1528Pro,p.Leu1528Pro,c.4583T>C,missense_variant,Uncertain significance,481486,,1,833098,0.0000012003389757267452,0,0,,,12.2,0.568,0.00,0.00,-0.0900,0.110,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43074425-C-T,17,43074425,rs1060504560,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1527Glu,p.Glu1527Glu,c.4581G>A,synonymous_variant,Likely benign,415556,,1,628764,0.0000015904218434897671,0,0,,,4.78,,0.00,0.00,1.98,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43074426-T-G,17,43074426,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1527Ala,p.Glu1527Ala,c.4580A>C,missense_variant,,,,4,1461868,0.0000027362251584958422,0,0,nfe,8.4e-7,15.8,0.574,0.00,-0.0300,0.714,0.160,0.0480,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,4,1111992,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43074430-CTT-C,17,43074430,rs80357813,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1525ArgfsTer5,p.Gln1525ArgfsTer5,c.4574_4575del,frameshift_variant,Pathogenic,55229,lof_flag,6,1461862,0.000004104354583401169,0,0,nfe,0.00000194,26.2,,0.00,-0.0700,1.48,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,6,1111992,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43074433-G-A,17,43074433,rs886040237,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1525Ter,p.Gln1525Ter,c.4573C>T,stop_gained,Pathogenic,266484,lof_flag,1,152204,0.000006570129562954982,0,0,,,38.0,,0.00,-0.320,2.90,,,0,41452,0,0,0,15282,0,0,0,3470,0,0,1,5198,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,910,0,0,0,4834,0,0,0,2090,0,0 -17-43074438-G-A,17,43074438,rs1555581955,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Leu,p.Pro1523Leu,c.4568C>T,missense_variant,Uncertain significance,482903,,1,628774,0.0000015903965494756462,0,0,,,9.63,0.555,0.00,-0.0200,0.228,0.230,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43074439-G-A,17,43074439,rs1390166929,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Ser,p.Pro1523Ser,c.4567C>T,missense_variant,Uncertain significance,1063272,,2,628774,0.0000031807930989512924,0,0,nfe,9.5e-7,12.3,0.604,0.00,0.00,0.968,0.170,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43074439-G-C,17,43074439,rs1390166929,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Ala,p.Pro1523Ala,c.4567C>G,missense_variant,Uncertain significance,646371,,1,628774,0.0000015903965494756462,0,0,,,10.0,0.587,0.00,0.00,0.968,0.250,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43074440-G-A,17,43074440,rs886040234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1522Tyr,p.Tyr1522Tyr,c.4566C>T,synonymous_variant,,,,1,833054,0.0000012004023748760586,0,0,,,2.96,,0.00,-0.0200,4.95,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43074442-A-G,17,43074442,rs1567778091,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1522His,p.Tyr1522His,c.4564T>C,missense_variant,Uncertain significance,627833,,4,833012,0.0000048018515939746365,0,0,nfe,0.0000012299999999999999,13.4,0.523,0.00,-0.0200,-0.0760,0.270,0.101,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761820,0,0,,,,,0,16456,0,0,0,27290,0,0 -17-43074446-T-C,17,43074446,rs761293595,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1520Arg,p.Arg1520Arg,c.4560A>G,synonymous_variant,Likely benign,427304,,1,628772,0.0000015904016082141062,0,0,,,3.88,,0.00,-0.0100,1.37,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43074449-A-G,17,43074449,rs876659243,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1519Asn,p.Asn1519Asn,c.4557T>C,synonymous_variant,Likely benign,231584,,7,1614010,0.000004337023934176368,0,0,afr,0.000034719999999999986,0.960,,0.0100,0.0100,-0.0210,,,6,74920,0,0,0,59994,0,0,0,29606,0,0,0,44898,0,0,0,64046,0,0,0,6084,0,0,0,1179980,0,0,0,912,0,0,1,91082,0,0,0,62488,0,0 -17-43074450-T-C,17,43074450,rs766962460,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1519Ser,p.Asn1519Ser,c.4556A>G,missense_variant,,,,2,628776,0.0000031807829815387355,0,0,,,6.43,0.284,0.00,-0.0300,0.562,0.150,0.00100,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,2,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43074452-C-T,17,43074452,rs786202635,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1518Gln,p.Gln1518Gln,c.4554G>A,synonymous_variant,Likely benign,186022,,2,985374,0.0000020296861902181304,0,0,,,2.37,,0.00,-0.0300,1.20,,,0,57346,0,0,1,16276,0,0,0,8622,0,0,0,8820,0,0,0,10888,0,0,0,1914,0,0,1,829900,0,0,0,912,0,0,0,21284,0,0,0,29412,0,0 -17-43074454-G-T,17,43074454,rs80356881,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1518Lys,p.Gln1518Lys,c.4552C>A,missense_variant,Uncertain significance,232176,,2,1461856,0.0000013681238097322856,0,0,nfe,2.999999999999999e-7,19.8,0.518,0.00,-0.100,3.42,0.0500,0.0230,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43074454-G-C,17,43074454,rs80356881,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1518Glu,p.Gln1518Glu,c.4552C>G,missense_variant,Uncertain significance,219563,,1,1461858,6.840609689860438e-7,0,0,,,17.8,0.532,0.00,-0.0900,3.42,0.0100,0.0100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43074457-G-A,17,43074457,rs137894496,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1517Phe,p.Leu1517Phe,c.4549C>T,missense_variant,Uncertain significance,661280,,2,628774,0.0000031807930989512924,0,0,,,23.9,0.567,0.00,-0.100,3.32,0.0800,0.276,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43074461-C-T,17,43074461,rs755731300,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1515Gly,p.Gly1515Gly,c.4545G>A,synonymous_variant,Likely benign,427351,,1,628766,0.0000015904167846225783,0,0,,,2.21,,0.00,0.00,-0.104,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69794,0,0,0,33098,0,0 -17-43074462-C-T,17,43074462,rs398122688,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1515Glu,p.Gly1515Glu,c.4544G>A,missense_variant,Likely benign,91632,,4,833074,0.000004801494225002821,0,0,nfe,0.0000012299999999999999,12.7,0.609,0.00,0.00,0.371,0.120,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761868,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43074469-A-G,17,43074469,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1513Arg,p.Cys1513Arg,c.4537T>C,missense_variant,Uncertain significance,1741305,,1,628774,0.0000015903965494756462,0,0,,,0.613,0.536,0.00,0.0100,-0.636,0.550,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43074471-C-A,17,43074471,rs1800744,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1512Ile,p.Ser1512Ile,c.4535G>T,missense_variant,Benign,41826,,4969,1614128,0.0030784423540140557,17,0,nfe,0.00358635,19.3,0.516,0.00,-0.0200,3.96,0.00,0.133,49,75028,1,0,87,60012,0,0,164,29606,2,0,0,44892,0,0,86,64022,1,0,12,6060,0,0,4340,1180008,10,0,0,912,0,0,61,91076,2,0,170,62512,1,0 -17-43074472-T-A,17,43074472,rs80357137,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1512Cys,p.Ser1512Cys,c.4534A>T,missense_variant,Uncertain significance,55224,,1,152182,0.0000065710793654965765,0,0,,,19.4,0.582,0.00,-0.0200,0.609,0.0400,0.00300,0,41448,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43074473-G-A,17,43074473,rs1567778195,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1511His,p.His1511His,c.4533C>T,synonymous_variant,Likely benign,1049278,,1,833060,0.000001200393729143159,0,0,,,0.850,,0.00,-0.0500,-0.317,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761862,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43074476-C-T,17,43074476,rs1555582010,C,T,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.3G>A,start_lost,Uncertain significance,482904,,1,833058,0.0000012003966110402877,0,0,,,0.718,0.534,0.00,-0.0300,-0.899,0.340,0.00,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43074477-A-C,17,43074477,rs1064794378,A,C,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.2T>G,start_lost,,,,1,628770,0.000001590406666984748,0,0,,,11.7,0.548,0.0200,-0.0500,-0.509,0.0300,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43074478-T-C,17,43074478,rs1253680250,T,C,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.1A>G,start_lost,Conflicting interpretations of pathogenicity,1741241,,1,628772,0.0000015904016082141062,0,0,,,0.00100,0.511,0.0300,0.00,-0.366,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43074478-T-A,17,43074478,rs1253680250,T,A,gnomAD Genomes,NA,PASS,ENST00000591534.5,p.Met1?,p.Met1?,c.1A>T,start_lost,,,,1,152182,0.0000065710793654965765,0,0,,,0.0540,0.505,0.0100,-0.0100,-0.366,0.210,0.00,1,41438,0,0,0,15280,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4828,0,0,0,2094,0,0 -17-43074479-G-A,17,43074479,rs886040233,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1509Tyr,p.Tyr1509Tyr,c.4527C>T,synonymous_variant,Benign/Likely benign,633098,,1,628772,0.0000015904016082141062,0,0,,,0.176,,0.00,-0.0200,0.305,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43074482-C-T,17,43074482,rs80356885,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1508Ter,p.Trp1508Ter,c.4524G>A,stop_gained,Pathogenic,55221,lof_flag,3,1461826,0.000002052227830124789,0,0,nfe,2.999999999999999e-7,34.0,,0.00,-0.0900,0.832,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1111952,0,0,,,,,0,86256,0,0,1,60396,0,0 -17-43074485-C-T,17,43074485,rs1435385135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1507Arg,p.Arg1507Arg,c.4521G>A,synonymous_variant,Likely benign,462653,,3,1461822,0.0000020522334456589104,0,0,eas,0.00000835,2.19,,0.00,0.00,0.0820,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,2,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111946,0,0,,,,,0,86256,0,0,1,60396,0,0 -17-43074486-C-G,17,43074486,rs80357470,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1507Thr,p.Arg1507Thr,c.4520G>C,missense_variant,Benign,41825,,62,1613966,0.00003841468779391883,0,0,nfe,0.00003341,10.7,0.545,0.00,0.00,0.668,0.0100,0.0490,0,74886,0,0,4,59996,0,0,0,29606,0,0,0,44898,0,0,0,64030,0,0,2,6084,0,0,51,1179980,0,0,0,912,0,0,3,91084,0,0,2,62490,0,0 -17-43074488-A-G,17,43074488,rs73983787,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1506Asp,p.Asp1506Asp,c.4518T>C,synonymous_variant,Likely benign,427363,,4,781084,0.000005121088128805609,0,0,afr,0.00001343,1.49,,0.140,0.0100,-0.699,,,3,59270,0,0,0,59028,0,0,0,24456,0,0,0,41256,0,0,0,63762,0,0,0,4442,0,0,1,418118,0,0,0,912,0,0,0,74626,0,0,0,35214,0,0 -17-43074491-A-G,17,43074491,rs1057522167,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1505Asp,p.Asp1505Asp,c.4515T>C,synonymous_variant,Likely benign,385265,,3,833046,0.000003601241708140967,0,0,nfe,0.00000105,0.380,,0.00,0.00,-0.984,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761850,0,0,,,,,0,16456,0,0,0,27296,0,0 -17-43074492-T-A,17,43074492,rs1567778319,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1505Val,p.Asp1505Val,c.4514A>T,missense_variant,Uncertain significance,570514,,1,628772,0.0000015904016082141062,0,0,,,15.7,0.565,0.380,-0.0800,0.465,0.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43074494-T-C,17,43074494,rs1555582056,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1504Leu,p.Leu1504Leu,c.4512A>G,synonymous_variant,Likely benign,485394,,2,832898,0.000002401254415306556,0,0,nfe,4.4e-7,0.355,,0.200,0.0400,-2.97,,,0,15776,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,2,761718,0,0,,,,,0,16450,0,0,0,27294,0,0 -17-43074498-G-T,17,43074498,rs80357437,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1503Ter,p.Ser1503Ter,c.4508C>A,stop_gained,Pathogenic,55219,lof_flag,5,1461712,0.000003420646474818569,0,0,sas,0.000021940000000000003,35.0,,0.0800,-0.200,0.299,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5766,0,0,0,1111866,0,0,,,,,5,86242,0,0,0,60390,0,0 -17-43074500-T-C,17,43074500,rs778400777,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Pro,p.Pro1502Pro,c.4506A>G,synonymous_variant,Likely benign,427295,,1,628764,0.0000015904218434897671,0,0,,,2.22,,0.00,0.00,-0.457,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43074501-G-C,17,43074501,rs56335406,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Arg,p.Pro1502Arg,c.4505C>G,missense_variant,,,,1,1461564,6.841985708460252e-7,0,0,,,0.651,0.546,0.00,0.00,-0.657,0.590,0.00,0,33464,0,0,0,44722,0,0,0,26136,0,0,0,39696,0,0,0,53408,0,0,0,5764,0,0,1,1111744,0,0,,,,,0,86240,0,0,0,60390,0,0 -17-43074501-G-T,17,43074501,rs56335406,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Gln,p.Pro1502Gln,c.4505C>A,missense_variant,Conflicting interpretations of pathogenicity,185183,,3,1461564,0.0000020525957125380757,0,0,nfe,7.200000000000001e-7,0.215,0.523,0.00,-0.0300,-0.657,1.00,0.00,0,33464,0,0,0,44722,0,0,0,26136,0,0,0,39696,0,0,0,53408,0,0,0,5764,0,0,3,1111744,0,0,,,,,0,86240,0,0,0,60390,0,0 -17-43074502-G-A,17,43074502,rs80357383,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Ser,p.Pro1502Ser,c.4504C>T,missense_variant,Uncertain significance,55218,,1,1461676,6.841461445628169e-7,0,0,,,15.6,0.444,0.00,0.0100,2.48,0.210,0.00600,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5766,0,0,1,1111836,0,0,,,,,0,86244,0,0,0,60386,0,0 -17-43074503-G-A,17,43074503,rs747539984,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1501Cys,p.Cys1501Cys,c.4503C>T,synonymous_variant,Likely benign,240804,,1,628754,0.0000015904471383084641,0,0,,,4.42,,0.130,0.0200,0.811,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43074505-A-T,17,43074505,rs1452494041,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1501Ser,p.Cys1501Ser,c.4501T>A,missense_variant,,,,3,628760,0.000004771295883962084,0,0,sas,0.00000475,6.12,0.559,0.00,0.0100,-0.439,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,1,4146,0,0,0,350096,0,0,,,,,2,69796,0,0,0,33098,0,0 -17-43074506-T-C,17,43074506,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1500Lys,p.Lys1500Lys,c.4500A>G,synonymous_variant,,,,1,628758,0.0000015904370202844338,0,0,,,3.24,,0.00,0.00,-0.0900,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43074510-G-A,17,43074510,rs1286565832,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1499Phe,p.Ser1499Phe,c.4496C>T,missense_variant,,,,1,628746,0.0000015904673747427419,0,0,,,18.7,0.498,0.0500,-0.0600,3.00,0.120,0.854,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36064,0,0,1,53134,0,0,0,4146,0,0,0,350094,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43074512-A-G,17,43074512,rs1392795477,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1498Pro,p.Pro1498Pro,c.4494T>C,synonymous_variant,,,,2,984866,0.0000020307331149618325,0,0,,,9.10,,0.00,-0.0200,2.76,,,0,57234,0,0,0,16266,0,0,0,8624,0,0,0,8830,0,0,0,10900,0,0,0,1934,0,0,0,829506,0,0,0,912,0,0,1,21280,0,0,1,29380,0,0 -17-43074513-G-C,17,43074513,rs1555582079,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1498Arg,p.Pro1498Arg,c.4493C>G,missense_variant,Uncertain significance,485378,,2,832618,0.000002402061929960678,0,0,nfe,4.4e-7,22.9,0.533,0.00,0.00,0.778,0.0300,0.0550,0,15768,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,761468,0,0,,,,,0,16442,0,0,0,27284,0,0 -17-43074515-G-T,17,43074515,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1497Ser,p.Ser1497Ser,c.4491C>A,synonymous_variant,,,,1,832458,0.0000012012618054003926,0,0,,,5.44,,0.00,0.00,0.162,,,0,15770,0,0,0,984,0,0,0,5150,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,761318,0,0,,,,,0,16442,0,0,0,27276,0,0 -17-43074522-C-T,17,43074522,rs80358189,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-1G>A,,c.4485-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,55213,,4,628702,0.000006362314737347742,0,0,sas,0.000019380000000000004,33.0,,0.970,-0.830,6.94,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53120,0,0,0,4140,0,0,0,350088,0,0,,,,,4,69784,0,0,0,33094,0,0 -17-43074526-A-G,17,43074526,rs2154024959,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-5T>C,,c.4485-5T>C,splice_region_variant,Likely benign,1124073,,2,628686,0.000003181238328831881,0,0,sas,0.00000476,12.8,,0.0300,-0.0600,1.23,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53112,0,0,0,4132,0,0,0,350082,0,0,,,,,2,69786,0,0,0,33096,0,0 -17-43074528-A-G,17,43074528,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-7T>C,,c.4485-7T>C,splice_region_variant,,,,1,831186,0.0000012031001484625584,0,0,,,13.5,,0.0400,-0.0900,2.69,,,0,15750,0,0,0,980,0,0,0,5146,0,0,0,3622,0,0,0,276,0,0,0,1614,0,0,1,760166,0,0,,,,,0,16412,0,0,0,27220,0,0 -17-43074529-G-A,17,43074529,rs397507234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-8C>T,,c.4485-8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,37599,,113,1611770,0.00007010925876520844,0,0,nfe,0.00007918,7.95,,0.0100,-0.0100,0.474,,,2,74876,0,0,0,59966,0,0,0,29592,0,0,0,44880,0,0,0,63970,0,0,0,6054,0,0,110,1178102,0,0,0,912,0,0,0,91026,0,0,1,62392,0,0 -17-43074529-G-T,17,43074529,rs397507234,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-8C>A,,c.4485-8C>A,splice_region_variant,Conflicting interpretations of pathogenicity,508746,,1,1459616,6.851117006116677e-7,0,0,,,8.73,,0.0500,-0.110,0.474,,,0,33432,0,0,0,44708,0,0,0,26120,0,0,0,39682,0,0,0,53362,0,0,0,5738,0,0,1,1110080,0,0,,,,,0,86190,0,0,0,60304,0,0 -17-43074531-T-C,17,43074531,rs863224420,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-10A>G,,c.4485-10A>G,intron_variant,Conflicting interpretations of pathogenicity,215874,,13,1611216,0.000008068440233959941,0,0,amr,0.00006617999999999998,5.68,,0.00,0.00,-0.545,,,3,74850,0,0,8,59966,0,0,0,29588,0,0,0,44870,0,0,0,63980,0,0,0,6046,0,0,0,1177588,0,0,0,910,0,0,1,91030,0,0,1,62388,0,0 -17-43074535-T-G,17,43074535,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-14A>C,,c.4485-14A>C,intron_variant,,,,1,1458178,6.857873318620909e-7,0,0,,,6.08,,0.00,0.00,-1.11,,,0,33404,0,0,0,44706,0,0,0,26116,0,0,0,39666,0,0,0,53350,0,0,0,5706,0,0,1,1108824,0,0,,,,,0,86152,0,0,0,60254,0,0 -17-43074535-T-C,17,43074535,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-14A>G,,c.4485-14A>G,intron_variant,Likely benign,2021009,,1,1458178,6.857873318620909e-7,0,0,,,6.41,,0.00,0.00,-1.11,,,0,33404,0,0,0,44706,0,0,0,26116,0,0,1,39666,0,0,0,53350,0,0,0,5706,0,0,0,1108824,0,0,,,,,0,86152,0,0,0,60254,0,0 -17-43074539-A-T,17,43074539,rs80358000,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-18T>A,,c.4485-18T>A,intron_variant,Likely benign,125715,,1,1455068,6.872531043222722e-7,0,0,,,10.3,,0.0400,-0.0800,1.18,,,0,33326,0,0,1,44692,0,0,0,26086,0,0,0,39644,0,0,0,53302,0,0,0,5668,0,0,0,1106114,0,0,,,,,0,86090,0,0,0,60146,0,0 -17-43074548-C-T,17,43074548,rs2154025481,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-27G>A,,c.4485-27G>A,intron_variant,,,,2,805338,0.000002483429317876469,0,0,nfe,4.4999999999999993e-7,3.49,,0.00,0.00,-0.359,,,0,15170,0,0,0,940,0,0,0,4980,0,0,0,3452,0,0,0,274,0,0,0,1564,0,0,2,736694,0,0,,,,,0,15948,0,0,0,26316,0,0 -17-43074549-C-A,17,43074549,rs746045640,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-28G>T,,c.4485-28G>T,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,6.34,,0.00,0.00,-0.0860,,,1,41426,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10600,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43074549-C-G,17,43074549,rs746045640,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-28G>C,,c.4485-28G>C,intron_variant,,,,28,1433020,0.00001953915507110857,0,0,sas,0.00022265,6.62,,0.00,-0.0100,-0.0860,,,0,32862,0,0,0,44540,0,0,0,25926,0,0,0,39488,0,0,0,53124,0,0,0,5478,0,0,0,1086744,0,0,,,,,27,85490,0,0,1,59368,0,0 -17-43074552-C-T,17,43074552,rs769895361,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-31G>A,,c.4485-31G>A,intron_variant,Likely benign,1608264,,17,1581302,0.00001075063460363675,0,0,eas,0.00004361999999999998,8.75,,0.00,0.00,0.978,,,1,74204,0,0,0,59734,0,0,0,29392,0,0,5,44670,0,0,0,63606,0,0,0,5752,0,0,6,1151480,0,0,0,908,0,0,1,90214,0,0,4,61342,0,0 -17-43074553-G-T,17,43074553,rs775850331,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-32C>A,,c.4485-32C>A,intron_variant,Uncertain significance,1327149,,3,1422752,0.0000021085895503924787,0,0,sas,0.00000936,9.21,,0.0200,-0.100,0.881,,,0,32640,0,0,0,44418,0,0,0,25862,0,0,0,39422,0,0,0,52922,0,0,0,5376,0,0,0,1077920,0,0,,,,,3,85156,0,0,0,59036,0,0 -17-43074553-G-A,17,43074553,rs775850331,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-32C>T,,c.4485-32C>T,intron_variant,,,,12,1574876,0.0000076196475151059515,0,0,sas,0.00000886,9.19,,0.00,0.00,0.881,,,1,74060,0,0,2,59682,0,0,0,29334,0,0,2,44614,0,0,0,63522,0,0,0,5692,0,0,4,1145940,0,0,0,912,0,0,3,89990,0,0,0,61130,0,0 -17-43074555-C-T,17,43074555,rs768492260,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-34G>A,,c.4485-34G>A,intron_variant,,,,2,152158,0.000013144231653938668,0,0,afr,0.000008,3.84,,0.00,0.00,0.0890,,,2,41424,0,0,0,15276,0,0,0,3468,0,0,0,5198,0,0,0,10604,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43074556-A-T,17,43074556,rs1470233099,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-35T>A,,c.4485-35T>A,intron_variant,,,,1,1419778,7.04335466530683e-7,0,0,,,12.3,,0.0300,-0.0700,0.995,,,0,32572,0,0,0,44318,0,0,0,25836,0,0,0,39432,0,0,0,52892,0,0,0,5294,0,0,1,1075432,0,0,,,,,0,85062,0,0,0,58940,0,0 -17-43074557-C-T,17,43074557,rs1214926485,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-36G>A,,c.4485-36G>A,intron_variant,,,,3,1571038,0.000001909565522921788,0,0,nfe,6.999999999999999e-7,4.31,,0.00,0.00,-0.426,,,0,73972,0,0,0,59614,0,0,0,29306,0,0,0,44612,0,0,0,63492,0,0,0,5634,0,0,3,1142600,0,0,0,912,0,0,0,89872,0,0,0,61024,0,0 -17-43074558-C-A,17,43074558,rs2154025763,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-37G>T,,c.4485-37G>T,intron_variant,,,,2,1413774,0.0000014146532614123614,0,0,,,7.81,,0.00,0.00,1.32,,,0,32426,0,0,0,44296,0,0,0,25776,0,0,0,39398,0,0,0,52850,0,0,1,5282,0,0,0,1070114,0,0,,,,,1,84866,0,0,0,58766,0,0 -17-43074564-T-C,17,43074564,rs1252919941,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-43A>G,,c.4485-43A>G,intron_variant,,,,1,1397536,7.155450736152772e-7,0,0,,,5.83,,0.00,-0.0100,-0.396,,,0,32082,0,0,0,44020,0,0,0,25678,0,0,0,39284,0,0,0,52604,0,0,0,5102,0,0,1,1056248,0,0,,,,,0,84386,0,0,0,58132,0,0 -17-43074572-CAA-C,17,43074572,,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-53_4485-52del,,c.4485-53_4485-52del,intron_variant,,,,1,1365218,7.324837498480096e-7,0,0,,,0.537,,0.00,-0.0200,-0.00200,,,0,31382,0,0,0,43340,0,0,0,25458,0,0,0,39060,0,0,0,52132,0,0,0,4856,0,0,1,1028532,0,0,,,,,0,83370,0,0,0,57088,0,0 -17-43074573-A-C,17,43074573,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-52T>G,,c.4485-52T>G,intron_variant,,,,3,1363818,0.0000021997069990277297,0,0,nfe,7.799999999999999e-7,2.02,,0.00,-0.0200,-0.309,,,0,31358,0,0,0,43296,0,0,0,25436,0,0,0,39042,0,0,0,52172,0,0,0,4822,0,0,3,1027332,0,0,,,,,0,83330,0,0,0,57030,0,0 -17-43074574-A-G,17,43074574,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-53T>C,,c.4485-53T>C,intron_variant,,,,1,617994,0.0000016181386874306223,0,0,,,0.100,,0.00,-0.0100,-0.708,,,0,17504,0,0,0,42222,0,0,0,20818,0,0,0,35790,0,0,0,51776,0,0,0,3300,0,0,1,345422,0,0,,,,,0,68518,0,0,0,32644,0,0 -17-43074574-AATC-A,17,43074574,rs2052622245,AATC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-56_4485-54del,,c.4485-56_4485-54del,intron_variant,,,,1,617994,0.0000016181386874306223,0,0,,,4.41,,0.00,-0.0200,-0.708,,,0,17504,0,0,0,42222,0,0,0,20818,0,0,0,35790,0,0,0,51776,0,0,0,3300,0,0,1,345422,0,0,,,,,0,68518,0,0,0,32644,0,0 -17-43074576-T-C,17,43074576,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-55A>G,,c.4485-55A>G,intron_variant,,,,1,1361928,7.342532057494963e-7,0,0,,,6.95,,0.00,-0.0100,0.0980,,,0,31254,0,0,0,42606,0,0,0,25412,0,0,0,38904,0,0,0,51662,0,0,0,4640,0,0,1,1027524,0,0,,,,,0,82962,0,0,0,56964,0,0 -17-43074578-A-T,17,43074578,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-57T>A,,c.4485-57T>A,intron_variant,,,,1,1358570,7.360680715752593e-7,0,0,,,5.00,,0.00,-0.0300,0.563,,,0,31194,0,0,0,42456,0,0,0,25378,0,0,0,38902,0,0,0,51506,0,0,0,4594,0,0,1,1024916,0,0,,,,,0,82826,0,0,0,56798,0,0 -17-43074578-A-G,17,43074578,rs1408338844,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-57T>C,,c.4485-57T>C,intron_variant,,,,23,1510830,0.000015223420239206264,0,0,nfe,0.00001401,6.14,,0.00,-0.0200,0.563,,,0,72668,0,0,0,57742,0,0,0,28848,0,0,0,44108,0,0,0,62130,0,0,0,4910,0,0,23,1092962,0,0,0,912,0,0,0,87660,0,0,0,58890,0,0 -17-43074580-ACT-A,17,43074580,,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-61_4485-60del,,c.4485-61_4485-60del,intron_variant,,,,1,1346986,7.42398213492939e-7,0,0,,,4.99,,0.00,-0.0100,0.808,,,0,30942,0,0,0,42126,0,0,0,25322,0,0,0,38772,0,0,0,51274,0,0,0,4514,0,0,1,1015210,0,0,,,,,0,82428,0,0,0,56398,0,0 -17-43074581-C-G,17,43074581,rs1335701202,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-60G>C,,c.4485-60G>C,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,7.16,,0.00,-0.0100,0.443,,,0,41462,0,0,0,15284,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43074581-C-T,17,43074581,rs1335701202,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-60G>A,,c.4485-60G>A,intron_variant,,,,6,1342334,0.0000044698264366394656,1,0,sas,0.00000403,7.54,,0.00,0.00,0.443,,,0,30794,0,0,0,41942,0,0,0,25278,0,0,0,38700,0,0,0,51164,0,0,0,4494,0,0,2,1011444,0,0,,,,,2,82296,0,0,2,56222,1,0 -17-43074582-T-C,17,43074582,rs2154026335,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-61A>G,,c.4485-61A>G,intron_variant,,,,1,1337108,7.478827439518723e-7,0,0,,,3.43,,0.0200,-0.0400,0.324,,,0,30714,0,0,0,41814,0,0,0,25238,0,0,0,38640,0,0,0,51000,0,0,0,4466,0,0,0,1007074,0,0,,,,,1,82068,0,0,0,56094,0,0 -17-43074583-T-C,17,43074583,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-62A>G,,c.4485-62A>G,intron_variant,,,,2,609298,0.0000032824660510948665,0,0,nfe,9.699999999999998e-7,12.8,,0.00,-0.0100,0.447,,,0,17242,0,0,0,40796,0,0,0,20732,0,0,0,35460,0,0,0,50656,0,0,0,3020,0,0,2,341380,0,0,,,,,0,67680,0,0,0,32332,0,0 -17-43074584-G-C,17,43074584,rs273900734,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-63C>G,,c.4485-63C>G,intron_variant,Benign,209374,,493340,1458920,0.33815425108984726,85314,0,sas,0.4945663799999999,3.09,,0.00,0.00,0.245,,,16778,71662,1974,0,18275,56384,2970,0,10441,28550,1886,0,15443,43506,2786,0,24179,60742,4768,0,1718,4560,342,0,343874,1049408,56220,0,257,906,40,0,42843,85940,10950,0,19532,57262,3378,0 -17-43074586-T-C,17,43074586,rs2154026405,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-65A>G,,c.4485-65A>G,intron_variant,,,,1,1282434,7.797672238883249e-7,0,0,,,0.0910,,0.00,0.0100,-5.21,,,0,29696,0,0,1,40526,0,0,0,24834,0,0,0,38066,0,0,0,49352,0,0,0,4126,0,0,0,961558,0,0,,,,,0,79894,0,0,0,54382,0,0 -17-43074588-G-A,17,43074588,rs2154026470,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-67C>T,,c.4485-67C>T,intron_variant,,,,1,1260760,7.931723722199309e-7,0,0,,,1.36,,0.00,0.00,0.977,,,0,29220,0,0,0,40064,0,0,0,24654,0,0,0,37768,0,0,0,48898,0,0,0,4064,0,0,1,943190,0,0,,,,,0,79220,0,0,0,53682,0,0 -17-43074589-G-A,17,43074589,rs1406666349,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-68C>T,,c.4485-68C>T,intron_variant,,,,1,1241078,8.057511292602076e-7,0,0,,,7.48,,0.00,0.00,0.919,,,0,28812,0,0,0,39782,0,0,0,24498,0,0,0,37600,0,0,0,48512,0,0,0,4012,0,0,1,926156,0,0,,,,,0,78714,0,0,0,52992,0,0 -17-43074593-C-T,17,43074593,rs942636280,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-72G>A,,c.4485-72G>A,intron_variant,,,,1,1232330,8.114709533972232e-7,0,0,,,1.04,,0.00,0.00,-0.0340,,,0,28608,0,0,1,39378,0,0,0,24446,0,0,0,37382,0,0,0,48044,0,0,0,3964,0,0,0,919470,0,0,,,,,0,78338,0,0,0,52700,0,0 -17-43074594-C-T,17,43074594,rs193221861,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-73G>A,,c.4485-73G>A,intron_variant,,,,3,1378836,0.000002175748239819674,0,0,eas,0.00001874,0.797,,0.00,0.0100,-0.0880,,,0,70040,0,0,0,54504,0,0,0,27888,0,0,3,42460,0,0,0,58478,0,0,0,4232,0,0,0,982704,0,0,0,912,0,0,0,83002,0,0,0,54616,0,0 -17-43074594-C-A,17,43074594,rs193221861,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-73G>T,,c.4485-73G>T,intron_variant,,,,7,1378714,0.000005077195125312429,0,0,nfe,0.0000022,0.499,,0.00,0.00,-0.0880,,,0,69918,0,0,1,54484,0,0,0,27888,0,0,0,42470,0,0,0,58478,0,0,0,4254,0,0,6,982710,0,0,0,912,0,0,0,83006,0,0,0,54594,0,0 -17-43076414-A-G,17,43076414,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+74T>C,,c.4484+74T>C,intron_variant,,,,2,621596,0.0000032175239222903623,0,0,,,17.4,,0.00,0.00,0.426,,,0,17510,0,0,0,43508,0,0,0,20882,0,0,0,35904,0,0,0,49384,0,0,0,4128,0,0,1,348234,0,0,,,,,1,69172,0,0,0,32874,0,0 -17-43076417-A-C,17,43076417,rs975503965,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+71T>G,,c.4484+71T>G,intron_variant,,,,65,1581662,0.00004109601166368036,0,0,nfe,0.00004525,14.7,,0.00,0.00,0.917,,,0,74148,0,0,0,59754,0,0,0,29372,0,0,0,44626,0,0,0,60658,0,0,0,6016,0,0,65,1154860,0,0,0,912,0,0,0,89946,0,0,0,61370,0,0 -17-43076418-A-G,17,43076418,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+70T>C,,c.4484+70T>C,intron_variant,,,,1,808230,0.000001237271568736622,0,0,,,9.73,,0.00,0.00,-0.176,,,0,15194,0,0,0,962,0,0,0,5008,0,0,0,3502,0,0,0,272,0,0,0,1574,0,0,1,739384,0,0,,,,,0,15914,0,0,0,26420,0,0 -17-43076420-T-C,17,43076420,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+68A>G,,c.4484+68A>G,intron_variant,,,,2,1433272,0.0000013954085477146,0,0,amr,0.0000074600000000000006,13.9,,0.00,0.00,0.195,,,0,32802,0,0,2,44464,0,0,0,25896,0,0,0,39430,0,0,0,50412,0,0,0,5710,0,0,0,1090016,0,0,,,,,0,85130,0,0,0,59412,0,0 -17-43076422-ACAAT-A,17,43076422,,ACAAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+62_4484+65del,,c.4484+62_4484+65del,intron_variant,,,,2,811608,0.000002464243822140738,0,0,,,6.95,,0.00,-0.0100,0.223,,,0,15290,0,0,0,964,0,0,0,5016,0,0,1,3526,0,0,0,274,0,0,0,1582,0,0,1,742406,0,0,,,,,0,16002,0,0,0,26548,0,0 -17-43076423-C-T,17,43076423,rs2052712941,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+65G>A,,c.4484+65G>A,intron_variant,,,,3,622952,0.000004815780349047759,0,0,nfe,0.00000229,5.95,,0.00,0.00,-1.11,,,0,17548,0,0,0,43534,0,0,0,20874,0,0,0,35898,0,0,0,50348,0,0,0,4132,0,0,3,348466,0,0,,,,,0,69254,0,0,0,32898,0,0 -17-43076424-A-G,17,43076424,rs764567792,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+64T>C,,c.4484+64T>C,intron_variant,,,,18,1439060,0.000012508165052186844,0,0,amr,0.0002602100000000002,7.89,,0.00,0.00,-0.462,,,0,32936,0,0,18,44582,0,0,0,25946,0,0,0,39474,0,0,0,50816,0,0,0,5728,0,0,0,1094568,0,0,,,,,0,85412,0,0,0,59598,0,0 -17-43076427-C-A,17,43076427,rs80358185,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+61G>T,,c.4484+61G>T,intron_variant,Uncertain significance,125714,,93,1593936,0.00005834613183967236,3,0,eas,0.0003146500000000001,0.302,,0.00,0.00,-1.15,,,0,74398,0,0,2,59846,0,0,0,29436,0,0,21,44650,1,0,0,61684,0,0,0,6042,0,0,1,1164936,0,0,0,912,0,0,0,90282,0,0,69,61750,2,0 -17-43076429-G-C,17,43076429,rs2154055013,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+59C>G,,c.4484+59C>G,intron_variant,,,,1,624718,0.0000016007222458773399,0,0,,,13.1,,0.00,0.00,0.672,,,0,17618,0,0,0,43662,0,0,0,20920,0,0,0,35918,0,0,0,51040,0,0,0,4136,0,0,0,349078,0,0,,,,,1,69400,0,0,0,32946,0,0 -17-43076430-A-C,17,43076430,rs1567779386,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+58T>G,,c.4484+58T>G,intron_variant,,,,2,777286,0.0000025730554776491535,0,0,,,14.6,,0.00,0.00,0.263,,,0,59054,0,0,2,58920,0,0,0,24412,0,0,0,41150,0,0,0,61824,0,0,0,4454,0,0,0,417222,0,0,0,912,0,0,0,74276,0,0,0,35062,0,0 -17-43076433-T-G,17,43076433,rs1393968728,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+55A>C,,c.4484+55A>C,intron_variant,,,,3,777786,0.000003857102082063704,0,0,amr,0.0000135,7.14,,0.00,0.00,0.0670,,,0,59068,0,0,3,58968,0,0,0,24402,0,0,0,41152,0,0,0,62026,0,0,0,4454,0,0,0,417314,0,0,0,912,0,0,0,74418,0,0,0,35072,0,0 -17-43076437-TATAA-T,17,43076437,rs1567779394,TATAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+47_4484+50del,,c.4484+47_4484+50del,intron_variant,,,,1,1452280,6.885724515933566e-7,0,0,,,8.09,,0.00,-0.0100,-0.175,,,0,33266,0,0,1,44682,0,0,0,26050,0,0,0,39558,0,0,0,51992,0,0,0,5748,0,0,0,1105000,0,0,,,,,0,85952,0,0,0,60032,0,0 -17-43076437-T-C,17,43076437,rs774226893,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+51A>G,,c.4484+51A>G,intron_variant,,,,13,1452280,0.000008951441870713636,0,0,sas,0.00008914999999999999,11.3,,0.00,0.00,-0.175,,,0,33266,0,0,0,44682,0,0,0,26050,0,0,0,39558,0,0,0,51992,0,0,0,5748,0,0,0,1105000,0,0,,,,,13,85952,0,0,0,60032,0,0 -17-43076439-TA-T,17,43076439,rs1442390657,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+48del,,c.4484+48del,intron_variant,,,,3,1605086,0.0000018690587295634003,0,0,,,5.94,,0.00,0.0100,-0.493,,,2,74712,0,0,0,59946,0,0,0,29522,0,0,0,44760,0,0,0,62718,0,0,0,6066,0,0,0,1173486,0,0,0,912,0,0,0,90800,0,0,1,62164,0,0 -17-43076439-T-C,17,43076439,rs1003467345,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+49A>G,,c.4484+49A>G,intron_variant,,,,9,1452966,0.000006194226155326415,0,0,nfe,0.00000383,4.70,,0.00,0.00,-0.493,,,0,33292,0,0,0,44672,0,0,0,26056,0,0,0,39556,0,0,0,52120,0,0,0,5750,0,0,9,1105476,0,0,,,,,0,85970,0,0,0,60074,0,0 -17-43076440-A-T,17,43076440,rs1455609077,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+48T>A,,c.4484+48T>A,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,9.12,,0.00,0.00,0.0190,,,1,41442,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43076441-A-C,17,43076441,rs1179301200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+47T>G,,c.4484+47T>G,intron_variant,,,,5,1454460,0.0000034377019649904433,0,0,nfe,0.0000013199999999999999,11.2,,0.00,0.00,1.19,,,0,33324,0,0,0,44690,0,0,0,26068,0,0,0,39586,0,0,0,52214,0,0,0,5754,0,0,5,1106684,0,0,,,,,0,86020,0,0,0,60120,0,0 -17-43076444-A-G,17,43076444,rs1034217286,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+44T>C,,c.4484+44T>C,intron_variant,,,,4,152174,0.000026285699265314706,0,0,afr,0.00003249,13.4,,0.0100,-0.0100,-0.101,,,4,41446,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43076447-G-A,17,43076447,rs931573413,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+41C>T,,c.4484+41C>T,intron_variant,,,,1,626846,0.0000015952881568997809,0,0,,,1.44,,0.00,0.00,-0.0490,,,1,17660,0,0,0,43710,0,0,0,20948,0,0,0,35954,0,0,0,52134,0,0,0,4142,0,0,0,349572,0,0,,,,,0,69688,0,0,0,33038,0,0 -17-43076448-A-T,17,43076448,rs1159005094,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+40T>A,,c.4484+40T>A,intron_variant,Likely benign,993862,,7,1608816,0.000004351025847579835,0,0,afr,0.00001065,1.52,,0.00,0.00,0.0260,,,3,74804,0,0,0,59950,0,0,0,29542,0,0,0,44792,0,0,0,63108,0,0,0,6072,0,0,3,1176396,0,0,0,912,0,0,0,90926,0,0,1,62314,0,0 -17-43076449-T-C,17,43076449,rs371380546,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+39A>G,,c.4484+39A>G,intron_variant,Benign,1697603,,101,1609302,0.0000627601283040722,0,0,afr,0.0010492399999999995,0.316,,0.00,0.00,-1.99,,,94,74950,0,0,3,59974,0,0,0,29540,0,0,0,44772,0,0,0,63154,0,0,0,6050,0,0,0,1176668,0,0,0,912,0,0,0,90930,0,0,4,62352,0,0 -17-43076453-A-G,17,43076453,rs767008841,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+35T>C,,c.4484+35T>C,intron_variant,,,,1,1457786,6.859717407081698e-7,0,0,,,4.51,,0.00,-0.0100,0.201,,,0,33398,0,0,1,44704,0,0,0,26092,0,0,0,39602,0,0,0,52676,0,0,0,5758,0,0,0,1109134,0,0,,,,,0,86148,0,0,0,60274,0,0 -17-43076454-G-C,17,43076454,rs2154055741,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+34C>G,,c.4484+34C>G,intron_variant,,,,1,627410,0.0000015938540985958144,0,0,,,2.51,,0.00,0.0300,0.633,,,0,17672,0,0,0,43730,0,0,0,20960,0,0,0,35976,0,0,0,52376,0,0,0,4144,0,0,1,349760,0,0,,,,,0,69740,0,0,0,33052,0,0 -17-43076455-A-C,17,43076455,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+33T>G,,c.4484+33T>G,intron_variant,,,,1,627570,0.0000015934477428812722,0,0,,,1.41,,0.0100,-0.0200,-0.213,,,0,17676,0,0,0,43726,0,0,0,20960,0,0,0,35982,0,0,0,52458,0,0,0,4144,0,0,1,349810,0,0,,,,,0,69754,0,0,0,33060,0,0 -17-43076456-T-C,17,43076456,rs1597838919,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+32A>G,,c.4484+32A>G,intron_variant,Likely benign,803411,,2,830840,0.000002407202349429493,0,0,,,1.70,,0.00,-0.0100,-1.84,,,0,15742,0,0,0,976,0,0,0,5136,0,0,0,3624,0,0,0,276,0,0,0,1616,0,0,1,759826,0,0,,,,,0,16414,0,0,1,27230,0,0 -17-43076457-A-T,17,43076457,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+31T>A,,c.4484+31T>A,intron_variant,,,,1,627704,0.0000015931075793686195,0,0,,,0.728,,0.00,-0.0100,-0.139,,,0,17676,0,0,0,43728,0,0,0,20962,0,0,0,35986,0,0,0,52548,0,0,0,4144,0,0,1,349836,0,0,,,,,0,69758,0,0,0,33066,0,0 -17-43076458-C-G,17,43076458,rs2154055804,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+30G>C,,c.4484+30G>C,intron_variant,,,,1,1459032,6.853859271078359e-7,0,0,,,1.43,,0.00,0.00,0.365,,,0,33428,0,0,0,44708,0,0,0,26096,0,0,0,39604,0,0,0,52816,0,0,0,5762,0,0,1,1110104,0,0,,,,,0,86198,0,0,0,60316,0,0 -17-43076459-C-G,17,43076459,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+29G>C,,c.4484+29G>C,intron_variant,,,,1,1458612,6.855832805434207e-7,0,0,,,0.862,,0.00,0.00,0.187,,,0,33418,0,0,0,44702,0,0,0,26088,0,0,0,39598,0,0,0,52848,0,0,0,5760,0,0,1,1109724,0,0,,,,,0,86186,0,0,0,60288,0,0 -17-43076459-C-T,17,43076459,rs2154055859,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+29G>A,,c.4484+29G>A,intron_variant,,,,2,1458612,0.0000013711665610868415,0,0,,,1.05,,0.00,0.00,0.187,,,1,33418,0,0,0,44702,0,0,0,26088,0,0,0,39598,0,0,0,52848,0,0,0,5760,0,0,1,1109724,0,0,,,,,0,86186,0,0,0,60288,0,0 -17-43076462-A-C,17,43076462,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+26T>G,,c.4484+26T>G,intron_variant,,,,1,627892,0.0000015926305797812364,0,0,,,8.18,,0.0100,-0.0100,2.45,,,0,17676,0,0,0,43730,0,0,0,20964,0,0,0,35994,0,0,0,52642,0,0,0,4144,0,0,0,349882,0,0,,,,,1,69782,0,0,0,33078,0,0 -17-43076466-T-G,17,43076466,rs2052715436,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+22A>C,,c.4484+22A>C,intron_variant,,,,2,1460422,0.0000013694671814037313,0,0,,,3.42,,0.00,0.00,0.456,,,1,33446,0,0,0,44714,0,0,0,26106,0,0,0,39626,0,0,0,52988,0,0,0,5762,0,0,1,1111202,0,0,,,,,0,86226,0,0,0,60352,0,0 -17-43076467-C-G,17,43076467,rs772578738,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>C,,c.4484+21G>C,intron_variant,,,,2,1460396,0.000001369491562562483,0,0,,,1.99,,0.00,0.00,0.580,,,0,33454,0,0,1,44716,0,0,0,26108,0,0,0,39622,0,0,0,52974,0,0,0,5764,0,0,0,1111182,0,0,,,,,1,86222,0,0,0,60354,0,0 -17-43076467-C-T,17,43076467,rs772578738,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>A,,c.4484+21G>A,intron_variant,,,,1,1460396,6.847457812812415e-7,0,0,,,2.38,,0.00,0.00,0.580,,,0,33454,0,0,0,44716,0,0,0,26108,0,0,1,39622,0,0,0,52974,0,0,0,5764,0,0,0,1111182,0,0,,,,,0,86222,0,0,0,60354,0,0 -17-43076467-C-A,17,43076467,rs772578738,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>T,,c.4484+21G>T,intron_variant,,,,4,1460396,0.000002738983125124966,0,0,amr,0.00001779,1.84,,0.00,0.00,0.580,,,0,33454,0,0,3,44716,0,0,0,26108,0,0,0,39622,0,0,0,52974,0,0,0,5764,0,0,1,1111182,0,0,,,,,0,86222,0,0,0,60354,0,0 -17-43076472-C-T,17,43076472,rs1369751677,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+16G>A,,c.4484+16G>A,intron_variant,Likely benign,462652,,1,152098,0.000006574708411681942,0,0,,,1.85,,0.00,0.00,0.580,,,0,41414,0,0,0,15252,0,0,0,3472,0,0,0,5192,0,0,0,10604,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 -17-43076472-C-A,17,43076472,rs1369751677,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+16G>T,,c.4484+16G>T,intron_variant,,,,3,628016,0.000004776948358003618,0,0,,,1.42,,0.00,0.00,0.580,,,0,17674,0,0,0,43738,0,0,0,20968,0,0,0,35994,0,0,3,52770,0,0,0,4144,0,0,0,349878,0,0,,,,,0,69782,0,0,0,33068,0,0 -17-43076473-A-G,17,43076473,rs760275914,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+15T>C,,c.4484+15T>C,intron_variant,Likely benign,415562,,12,1613106,0.000007439064760778275,0,0,nfe,0.000005,3.22,,0.00,-0.0200,0.454,,,0,74890,0,0,0,59974,0,0,0,29578,0,0,0,44826,0,0,0,63736,0,0,0,6080,0,0,11,1179578,0,0,0,912,0,0,0,91074,0,0,1,62458,0,0 -17-43076474-T-C,17,43076474,rs80358022,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+14A>G,,c.4484+14A>G,intron_variant,Benign,55210,,483,1613144,0.0002994153032835258,0,0,eas,0.007991179999999988,2.33,,0.0100,-0.0200,-0.665,,,0,75024,0,0,2,59994,0,0,0,29586,0,0,390,44810,0,0,1,63716,0,0,0,6058,0,0,10,1179504,0,0,0,912,0,0,48,91062,0,0,32,62478,0,0 -17-43076475-T-A,17,43076475,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+13A>T,,c.4484+13A>T,intron_variant,,,,1,628162,0.000001591946026661912,0,0,,,5.19,,0.00,0.00,0.433,,,0,17680,0,0,0,43738,0,0,0,20966,0,0,0,36006,0,0,0,52860,0,0,0,4144,0,0,1,349906,0,0,,,,,0,69788,0,0,0,33074,0,0 -17-43076482-T-G,17,43076482,rs879255297,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+6A>C,,c.4484+6A>C,intron_variant,Uncertain significance,252403,,3,628294,0.000004774834711138416,0,0,amr,0.00001819,13.5,,0.0200,0.00,1.31,,,0,17680,0,0,3,43738,0,0,0,20970,0,0,0,36014,0,0,0,52924,0,0,0,4144,0,0,0,349950,0,0,,,,,0,69790,0,0,0,33084,0,0 -17-43076485-T-C,17,43076485,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+3A>G,,c.4484+3A>G,intron_variant,,,,1,833038,0.0000012004254307726659,0,0,,,18.4,,0.150,-0.160,2.91,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43076485-T-TACCTTTCC,17,43076485,,T,TACCTTTCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4479_4484+2dup,,c.4479_4484+2dup,splice_region_variant,,,,1,833038,0.0000012004254307726659,0,0,,,14.5,,0.970,-0.890,2.91,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43076488-C-A,17,43076488,rs80357389,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1495Met,p.Arg1495Met,c.4484G>T,missense_variant,Pathogenic,37598,,4,1461350,0.000002737195059362918,0,0,nfe,8.4e-7,35.0,0.702,0.600,-0.720,7.02,0.0100,0.215,0,33464,0,0,0,44720,0,0,0,26124,0,0,0,39644,0,0,0,53222,0,0,0,5764,0,0,4,1111784,0,0,,,,,0,86248,0,0,0,60380,0,0 -17-43076489-T-C,17,43076489,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1495Gly,p.Arg1495Gly,c.4483A>G,missense_variant,,,,1,833044,0.0000012004167847076506,0,0,,,24.3,0.626,0.200,-0.230,1.03,0.210,0.0490,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761846,0,0,,,,,0,16456,0,0,0,27296,0,0 -17-43076491-T-C,17,43076491,rs758779691,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1494Gly,p.Glu1494Gly,c.4481A>G,missense_variant,Uncertain significance,481436,,5,628372,0.000007957070015850484,0,0,sas,0.00000476,14.0,0.492,0.0900,-0.0700,-0.113,0.400,0.00,0,17680,0,0,0,43738,0,0,0,20972,0,0,0,36014,0,0,0,52980,0,0,0,4144,0,0,3,349970,0,0,,,,,2,69790,0,0,0,33084,0,0 -17-43076492-C-T,17,43076492,rs80357148,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1494Lys,p.Glu1494Lys,c.4480G>A,missense_variant,Conflicting interpretations of pathogenicity,55208,,6,1613496,0.0000037186333278793377,0,0,afr,0.000025510000000000005,11.3,0.633,0.00,0.0100,1.48,0.460,0.0490,5,74874,0,0,0,59982,0,0,0,29592,0,0,0,44842,0,0,0,63834,0,0,0,6080,0,0,1,1179844,0,0,0,912,0,0,0,91072,0,0,0,62464,0,0 -17-43076492-C-A,17,43076492,rs80357148,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1494Ter,p.Glu1494Ter,c.4480G>T,stop_gained,Pathogenic,55209,lof_flag,2,1461410,0.0000013685413402125345,0,0,,,35.0,,0.0300,-0.0900,1.48,,,0,33464,0,0,0,44720,0,0,0,26124,0,0,0,39646,0,0,2,53248,0,0,0,5764,0,0,0,1111820,0,0,,,,,0,86244,0,0,0,60380,0,0 -17-43076494-A-T,17,43076494,rs2154057576,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1493Glu,p.Val1493Glu,c.4478T>A,missense_variant,,,,1,628392,0.0000015913633528116208,0,0,,,9.03,0.254,0.00,-0.0200,-0.0820,0.890,0.0310,0,17680,0,0,0,43738,0,0,0,20974,0,0,0,36016,0,0,1,52982,0,0,0,4144,0,0,0,349984,0,0,,,,,0,69790,0,0,0,33084,0,0 -17-43076496-T-G,17,43076496,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1492Gly,p.Gly1492Gly,c.4476A>C,synonymous_variant,,,,1,833036,0.000001200428312822015,0,0,,,9.63,,0.00,0.00,0.462,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43076501-G-A,17,43076501,rs111034213,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1491Ser,p.Pro1491Ser,c.4471C>T,missense_variant,Uncertain significance,801076,,2,1461440,0.0000013685132472082329,0,0,nfe,2.999999999999999e-7,14.5,0.174,0.0500,-0.0500,0.164,0.320,0.00300,0,33470,0,0,0,44720,0,0,0,26126,0,0,0,39638,0,0,0,53262,0,0,0,5762,0,0,2,1111832,0,0,,,,,0,86246,0,0,0,60384,0,0 -17-43076504-C-T,17,43076504,rs138608489,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1490Lys,p.Glu1490Lys,c.4468G>A,missense_variant,,,,1,628436,0.000001591251933371099,0,0,,,24.8,0.218,0.0900,-0.0500,4.85,0.00,0.00600,0,17686,0,0,0,43736,0,0,0,20974,0,0,1,36012,0,0,0,53024,0,0,0,4144,0,0,0,349988,0,0,,,,,0,69788,0,0,0,33084,0,0 -17-43076507-T-C,17,43076507,rs2052721149,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1489Glu,p.Lys1489Glu,c.4465A>G,missense_variant,Uncertain significance,951096,,1,833060,0.000001200393729143159,0,0,,,14.2,0.239,0.00,0.0100,0.0800,0.400,0.0380,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43076515-C-T,17,43076515,rs577465138,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1486Asn,p.Ser1486Asn,c.4457G>A,missense_variant,Likely benign,1275856,,2,780564,0.0000025622498603573825,0,0,,,1.64,0.205,0.0600,-0.0200,0.0100,0.100,0.00300,0,59092,0,0,0,58972,0,0,0,24438,0,0,0,41208,0,0,0,63664,0,0,0,4460,0,0,2,418024,0,0,0,912,0,0,0,74620,0,0,0,35174,0,0 -17-43076516-T-A,17,43076516,rs397507232,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1486Cys,p.Ser1486Cys,c.4456A>T,missense_variant,Uncertain significance,37593,,1,628504,0.0000015910797703753675,0,0,,,22.1,0.244,0.0300,-0.0200,0.0720,0.0100,0.628,0,17686,0,0,0,43738,0,0,0,20976,0,0,1,36014,0,0,0,53064,0,0,0,4144,0,0,0,350004,0,0,,,,,0,69790,0,0,0,33088,0,0 -17-43076518-G-A,17,43076518,rs80356870,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1485Ile,p.Thr1485Ile,c.4454C>T,missense_variant,Conflicting interpretations of pathogenicity,55203,,1,628500,0.0000015910898965791567,0,0,,,9.28,0.186,0.120,-0.0900,0.653,0.100,0.216,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53056,0,0,0,4144,0,0,0,350010,0,0,,,,,1,69790,0,0,0,33086,0,0 -17-43076523-A-T,17,43076523,rs1555582581,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Arg,p.Ser1483Arg,c.4449T>A,missense_variant,Uncertain significance,441497,,1,628504,0.0000015910797703753675,0,0,,,9.68,0.287,0.00,-0.0100,0.823,0.220,0.0180,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53058,0,0,0,4144,0,0,0,350010,0,0,,,,,1,69790,0,0,0,33088,0,0 -17-43076524-C-G,17,43076524,rs2052724227,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Thr,p.Ser1483Thr,c.4448G>C,missense_variant,,,,1,833076,0.0000012003706744642745,0,0,,,1.90,0.274,0.00,0.0100,-0.414,0.350,0.0370,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761872,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43076525-T-G,17,43076525,rs1555582583,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Arg,p.Ser1483Arg,c.4447A>C,missense_variant,Uncertain significance,441440,,2,628514,0.000003182108910859583,0,0,nfe,9.5e-7,1.71,0.271,0.00,0.0100,-1.00,0.220,0.0180,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53068,0,0,0,4144,0,0,2,350014,0,0,,,,,0,69790,0,0,0,33086,0,0 -17-43076529-T-C,17,43076529,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1481Ala,p.Ala1481Ala,c.4443A>G,synonymous_variant,Uncertain significance,2681812,,2,628518,0.000003182088659354227,0,0,sas,0.00000476,3.68,,0.00,0.0100,0.0800,,,0,17684,0,0,0,43736,0,0,0,20976,0,0,0,36016,0,0,0,53070,0,0,0,4144,0,0,0,350014,0,0,,,,,2,69790,0,0,0,33088,0,0 -17-43076530-G-C,17,43076530,rs2052726464,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1481Gly,p.Ala1481Gly,c.4442C>G,missense_variant,,,,1,628478,0.0000015911455930040512,0,0,,,3.40,0.262,0.00,0.0100,0.526,0.570,0.0730,0,17682,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53054,0,0,0,4144,0,0,0,350000,0,0,,,,,1,69790,0,0,0,33080,0,0 -17-43076533-G-A,17,43076533,rs781746476,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1480Phe,p.Ser1480Phe,c.4439C>T,missense_variant,,,,2,628500,0.0000031821797931583135,0,0,sas,0.00000476,14.9,0.203,0.0300,-0.0300,1.90,0.100,0.00500,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53052,0,0,0,4144,0,0,0,350012,0,0,,,,,2,69790,0,0,0,33088,0,0 -17-43076541-A-C,17,43076541,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1477Leu,p.Phe1477Leu,c.4431T>G,missense_variant,,,,1,832902,0.0000012006214416582024,0,0,,,3.15,0.270,0.00,0.0200,0.168,0.150,0.00,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761704,0,0,,,,,0,16456,0,0,0,27298,0,0 -17-43076544-C-T,17,43076544,rs1057522527,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1476Lys,p.Lys1476Lys,c.4428G>A,synonymous_variant,Likely benign,386544,,2,1461392,0.000001368558196568751,0,0,,,5.11,,0.00,-0.0200,2.25,,,0,33468,0,0,0,44722,0,0,0,26128,0,0,0,39646,0,0,0,53350,0,0,0,5764,0,0,1,1111686,0,0,,,,,1,86244,0,0,0,60384,0,0 -17-43076545-T-G,17,43076545,rs750437234,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1476Thr,p.Lys1476Thr,c.4427A>C,missense_variant,Uncertain significance,496384,,1,152178,0.000006571252086372537,0,0,,,24.2,0.264,0.00,-0.0100,1.75,,,0,41440,0,0,0,15254,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43076549-CAGCAGAA-C,17,43076549,,CAGCAGAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1473ThrfsTer30,p.Ser1473ThrfsTer30,c.4416_4422del,frameshift_variant,,,lof_flag,1,628518,0.0000015910443296771136,0,0,,,32.0,,0.00,-0.180,0.207,,,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36020,0,0,0,53066,0,0,0,4144,0,0,0,350016,0,0,,,,,1,69786,0,0,0,33088,0,0 -17-43076550-A-G,17,43076550,rs756281673,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1474Ala,p.Ala1474Ala,c.4422T>C,synonymous_variant,Likely benign,185731,,12,1613494,0.000007437275874592654,0,0,eas,0.00013703999999999998,6.31,,0.0600,0.0100,-0.772,,,0,74912,0,0,0,59984,0,0,0,29598,0,0,11,44846,0,0,0,63962,0,0,0,6080,0,0,0,1179650,0,0,0,912,0,0,0,91076,0,0,1,62474,0,0 -17-43076551-G-A,17,43076551,rs2154066200,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1474Val,p.Ala1474Val,c.4421C>T,missense_variant,,,,2,1461370,0.0000013685787993458194,0,0,nfe,2.999999999999999e-7,19.4,0.187,0.00,-0.0800,3.33,0.0900,0.0390,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39642,0,0,0,53314,0,0,0,5764,0,0,2,1111712,0,0,,,,,0,86244,0,0,0,60380,0,0 -17-43076553-A-T,17,43076553,rs730881455,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1473Ser,p.Ser1473Ser,c.4419T>A,synonymous_variant,Likely benign,182096,,12,1613644,0.0000074365845254591475,0,0,nfe,0.00000542,11.1,,0.00,0.0100,2.87,,,0,74920,0,0,0,59976,0,0,0,29596,0,0,0,44842,0,0,0,63964,0,0,0,6080,0,0,12,1179810,0,0,0,912,0,0,0,91072,0,0,0,62472,0,0 -17-43076555-A-G,17,43076555,rs398122686,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1473Pro,p.Ser1473Pro,c.4417T>C,missense_variant,Uncertain significance,91630,,2,985162,0.0000020301229645479627,0,0,,,23.5,0.250,0.0400,0.0200,1.35,0.200,0.00300,0,57228,0,0,0,16256,0,0,0,8622,0,0,0,8830,0,0,0,10894,0,0,0,1936,0,0,2,829806,0,0,0,912,0,0,0,21290,0,0,0,29388,0,0 -17-43076556-A-G,17,43076556,rs780239567,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Leu,p.Leu1472Leu,c.4416T>C,synonymous_variant,Likely benign,427342,,1,628506,0.0000015910747073218077,0,0,,,8.64,,0.0200,0.0100,0.512,,,0,17682,0,0,0,43738,0,0,0,20976,0,0,0,36012,0,0,0,53070,0,0,0,4144,0,0,0,350008,0,0,,,,,1,69788,0,0,0,33088,0,0 -17-43076558-G-C,17,43076558,rs200582930,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Val,p.Leu1472Val,c.4414C>G,missense_variant,,,,1,1461446,6.842538143728882e-7,0,0,,,14.1,0.254,0.0500,0.0200,-0.706,0.0800,0.107,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39640,0,0,0,53338,0,0,0,5764,0,0,1,1111762,0,0,,,,,0,86242,0,0,0,60386,0,0 -17-43076558-G-A,17,43076558,rs200582930,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Phe,p.Leu1472Phe,c.4414C>T,missense_variant,Uncertain significance,41824,,1,1461446,6.842538143728882e-7,0,0,,,15.5,0.219,0.00,-0.0100,-0.706,0.0600,0.564,0,33464,0,0,1,44722,0,0,0,26128,0,0,0,39640,0,0,0,53338,0,0,0,5764,0,0,0,1111762,0,0,,,,,0,86242,0,0,0,60386,0,0 -17-43076559-GC-G,17,43076559,rs1064793951,GC,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1471AlafsTer34,p.Gly1471AlafsTer34,c.4412del,frameshift_variant,Pathogenic,419556,lof_flag,1,152060,0.000006576351440220966,0,0,,,23.0,,0.00,-0.190,1.55,,,0,41386,0,0,1,15250,0,0,0,3470,0,0,0,5192,0,0,0,10592,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 -17-43076562-T-C,17,43076562,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Glu,p.Glu1470Glu,c.4410A>G,synonymous_variant,Likely benign,2034712,,1,1461416,6.842678607597016e-7,0,0,,,8.65,,0.00,-0.0600,-0.0870,,,0,33466,0,0,0,44720,0,0,0,26126,0,0,0,39642,0,0,0,53350,0,0,0,5764,0,0,1,1111720,0,0,,,,,0,86246,0,0,0,60382,0,0 -17-43076562-T-A,17,43076562,rs80357075,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1470Asp,p.Glu1470Asp,c.4410A>T,missense_variant,Conflicting interpretations of pathogenicity,89064,,46,1613734,0.00002850531748107185,0,0,amr,0.00048765000000000006,22.4,0.178,0.00,0.0100,-0.0870,0.120,0.0260,0,75030,0,0,39,60018,0,0,0,29594,0,0,0,44832,0,0,0,63970,0,0,0,6058,0,0,0,1179750,0,0,0,912,0,0,0,91074,0,0,7,62496,0,0 -17-43076563-T-C,17,43076563,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Gly,p.Glu1470Gly,c.4409A>G,missense_variant,,,,1,628514,0.0000015910544554297915,0,0,,,21.9,0.231,0.00,-0.0400,1.09,0.0600,0.0260,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36012,0,0,0,53074,0,0,0,4144,0,0,0,350008,0,0,,,,,0,69790,0,0,1,33088,0,0 -17-43076564-C-A,17,43076564,rs886040230,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Ter,p.Glu1470Ter,c.4408G>T,stop_gained,Pathogenic,266475,lof_flag,1,832954,0.0000012005464887616843,0,0,,,36.0,,0.420,-0.570,1.01,,,1,15780,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761762,0,0,,,,,0,16454,0,0,0,27298,0,0 -17-43076569-T-C,17,43076569,rs778707598,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1468Ser,p.Asn1468Ser,c.4403A>G,missense_variant,,,,3,628510,0.000004773193743934067,0,0,sas,0.00001141,16.5,0.172,0.00,-0.0200,1.49,0.460,0.00,0,17684,0,0,0,43740,0,0,0,20976,0,0,0,36012,0,0,0,53064,0,0,0,4144,0,0,0,350012,0,0,,,,,3,69790,0,0,0,33088,0,0 -17-43076570-T-C,17,43076570,rs80357022,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1468Asp,p.Asn1468Asp,c.4402A>G,missense_variant,Uncertain significance,37591,,3,1613732,0.0000018590447484464582,0,0,sas,0.00000875,20.7,0.217,0.0600,0.0100,2.23,0.0600,0.0260,0,75006,0,0,0,60014,0,0,0,29594,0,0,0,44828,0,0,0,63962,0,0,0,6058,0,0,0,1179788,0,0,0,912,0,0,3,91078,0,0,0,62492,0,0 -17-43076570-T-G,17,43076570,rs80357022,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1468His,p.Asn1468His,c.4402A>C,missense_variant,Benign,55193,,27,1613614,0.000016732626266256985,0,0,nfe,0.00001298,22.9,0.219,0.0300,0.0200,2.23,0.00,0.275,1,74884,0,0,0,59994,0,0,0,29594,0,0,0,44840,0,0,0,63962,0,0,0,6080,0,0,23,1179796,0,0,0,912,0,0,0,91082,0,0,3,62470,0,0 -17-43076572-TG-T,17,43076572,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1467ArgfsTer38,p.Gln1467ArgfsTer38,c.4399del,frameshift_variant,,,lof_flag,1,832962,0.000001200534958377453,0,0,,,25.5,,0.160,-0.270,-1.00,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761774,0,0,,,,,0,16456,0,0,1,27290,0,0 -17-43076576-T-A,17,43076576,rs1064794830,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1466Cys,p.Ser1466Cys,c.4396A>T,missense_variant,Uncertain significance,420981,,1,832942,0.00000120056378475332,0,0,,,23.3,0.244,0.0100,0.0200,2.32,0.00,0.293,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761748,0,0,,,,,0,16454,0,0,0,27296,0,0 -17-43076576-T-G,17,43076576,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1466Arg,p.Ser1466Arg,c.4396A>C,missense_variant,,,,1,832942,0.00000120056378475332,0,0,,,21.7,0.209,0.0900,0.0600,2.32,0.0300,0.00,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761748,0,0,,,,,0,16454,0,0,0,27296,0,0 -17-43076579-T-C,17,43076579,rs1567779778,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1465Val,p.Ile1465Val,c.4393A>G,missense_variant,Conflicting interpretations of pathogenicity,801075,,10,1461412,0.000006842697336548489,0,0,nfe,0.00000381,0.547,0.276,0.110,0.0600,-3.30,1.00,0.00,1,33466,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,9,1111762,0,0,,,,,0,86242,0,0,0,60382,0,0 -17-43076580-A-AG,17,43076580,rs80357916,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1465TyrfsTer11,p.Ile1465TyrfsTer11,c.4391dup,frameshift_variant,Pathogenic,55189,lof_flag,1,1461416,6.842678607597016e-7,0,0,,,31.0,,0.130,-0.160,1.76,,,0,33462,0,0,0,44724,0,0,0,26124,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,1,1111768,0,0,,,,,0,86242,0,0,0,60382,0,0 -17-43076580-A-T,17,43076580,rs794727102,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1464Pro,p.Pro1464Pro,c.4392T>A,synonymous_variant,Likely benign,194243,,1,1461416,6.842678607597016e-7,0,0,,,10.7,,0.0400,0.0300,1.76,,,0,33462,0,0,0,44724,0,0,0,26124,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,0,1111768,0,0,,,,,0,86242,0,0,1,60382,0,0 -17-43076582-G-C,17,43076582,rs1259139517,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1464Ala,p.Pro1464Ala,c.4390C>G,missense_variant,Uncertain significance,639775,,15,1461306,0.000010264790536684309,0,0,nfe,0.0000081,21.5,0.140,0.120,0.0200,3.33,0.120,0.00300,0,33464,0,0,0,44722,0,0,0,26124,0,0,0,39636,0,0,0,53300,0,0,0,5764,0,0,15,1111678,0,0,,,,,0,86240,0,0,0,60378,0,0 -17-43076583-G-A,17,43076583,rs80356997,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1463Tyr,p.Tyr1463Tyr,c.4389C>T,synonymous_variant,Likely benign,824851,,4,1613328,0.000002479347039163766,0,0,nfe,6.800000000000001e-7,3.31,,0.0300,0.00,0.701,,,0,74844,0,0,0,59990,0,0,0,29596,0,0,0,44836,0,0,0,63866,0,0,0,6078,0,0,3,1179698,0,0,0,912,0,0,1,91050,0,0,0,62458,0,0 -17-43076585-A-G,17,43076585,rs1163509151,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1463His,p.Tyr1463His,c.4387T>C,missense_variant,Uncertain significance,1416615,,1,628438,0.0000015912468692217848,0,0,,,12.0,0.183,0.0800,0.0300,0.767,0.400,0.00,0,17682,0,0,0,43740,0,0,0,20974,0,0,1,36008,0,0,0,53024,0,0,0,4144,0,0,0,349990,0,0,,,,,0,69790,0,0,0,33086,0,0 -17-43076587-T-G,17,43076587,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1462Ala,p.Glu1462Ala,c.4385A>C,missense_variant,,,,1,832966,0.0000012005291932683927,0,0,,,19.8,0.213,0.0600,-0.0300,1.04,0.130,0.0230,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761776,0,0,,,,,0,16456,0,0,0,27294,0,0 -17-43076588-C-T,17,43076588,rs141255461,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1462Lys,p.Glu1462Lys,c.4384G>A,missense_variant,Uncertain significance,194244,,1,152064,0.000006576178451178451,0,0,,,22.7,0.168,0.00,-0.0800,1.29,,,1,41394,0,0,0,15250,0,0,0,3466,0,0,0,5202,0,0,0,10596,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4820,0,0,0,2090,0,0 -17-43076589-A-T,17,43076589,rs431825408,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1461Arg,p.Ser1461Arg,c.4383T>A,missense_variant,Uncertain significance,96932,,2,1461412,0.0000013685394673096977,0,0,nfe,2.999999999999999e-7,12.5,0.200,0.0200,0.0400,0.452,0.190,0.00,0,33470,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53286,0,0,0,5764,0,0,2,1111782,0,0,,,,,0,86248,0,0,0,60378,0,0 -17-43076590-C-T,17,43076590,rs1555582692,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1461Asn,p.Ser1461Asn,c.4382G>A,missense_variant,Uncertain significance,2124828,,1,628414,0.0000015913076411410312,0,0,,,1.01,0.157,0.00,0.0700,0.0890,1.00,0.00,0,17684,0,0,0,43740,0,0,0,20974,0,0,0,36008,0,0,0,53000,0,0,0,4144,0,0,0,349988,0,0,,,,,1,69790,0,0,0,33086,0,0 -17-43076592-A-G,17,43076592,rs786203100,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1460Ser,p.Ser1460Ser,c.4380T>C,synonymous_variant,Likely benign,186631,,2,152180,0.000013142331449599158,0,0,afr,0.000008,10.2,,0.180,0.150,2.31,,,2,41432,0,0,0,15276,0,0,0,3468,0,0,0,5192,0,0,0,10618,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43076592-ACTT-A,17,43076592,rs2052742922,ACTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459_Ser1460delinsAsn,p.Lys1459_Ser1460delinsAsn,c.4377_4379del,inframe_deletion,Uncertain significance,849158,,3,1461356,0.000002052887865790403,0,0,sas,0.00000924,16.7,,0.0900,0.200,2.31,,,0,33468,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53268,0,0,0,5762,0,0,0,1111748,0,0,,,,,3,86248,0,0,0,60378,0,0 -17-43076593-C-T,17,43076593,rs397509167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1460Asn,p.Ser1460Asn,c.4379G>A,missense_variant,Uncertain significance,55185,,1,832998,0.0000012004830743891341,0,0,,,10.2,0.191,0.0800,0.0900,0.308,0.150,0.0810,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761794,0,0,,,,,0,16458,0,0,1,27298,0,0 -17-43076595-T-C,17,43076595,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Lys,p.Lys1459Lys,c.4377A>G,synonymous_variant,,,,1,833004,0.0000012004744274937455,0,0,,,9.93,,0.130,0.100,0.752,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761802,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43076596-T-C,17,43076596,rs1555582697,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Arg,p.Lys1459Arg,c.4376A>G,missense_variant,Uncertain significance,479194,,2,1461336,0.0000013686106412214577,0,0,,,23.3,0.269,0.00,0.0400,1.87,0.240,0.0550,0,33470,0,0,0,44722,0,0,0,26126,0,0,1,39636,0,0,0,53240,0,0,0,5764,0,0,1,1111752,0,0,,,,,0,86246,0,0,0,60380,0,0 -17-43076597-T-C,17,43076597,rs886040228,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Glu,p.Lys1459Glu,c.4375A>G,missense_variant,Uncertain significance,2111745,,1,832984,0.0000012005032509628036,0,0,,,24.9,0.228,0.460,0.410,4.81,0.280,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761784,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43076599-T-A,17,43076599,rs1377750822,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1458Leu,p.Gln1458Leu,c.4373A>T,missense_variant,Uncertain significance,934818,,2,152208,0.000013139913802165458,0,0,afr,0.000008,23.0,0.194,0.0500,0.0700,0.964,0.00,0.0100,2,41454,0,0,0,15274,0,0,0,3470,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43076600-G-C,17,43076600,rs80356932,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1458Glu,p.Gln1458Glu,c.4372C>G,missense_variant,Uncertain significance,950696,,1,1461212,6.84363391485972e-7,0,0,,,13.6,0.293,0.0700,0.110,1.70,1.00,0.00,0,33470,0,0,0,44722,0,0,0,26126,0,0,0,39636,0,0,0,53186,0,0,0,5764,0,0,0,1111688,0,0,,,,,0,86242,0,0,1,60378,0,0 -17-43076600-G-A,17,43076600,rs80356932,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1458Ter,p.Gln1458Ter,c.4372C>T,stop_gained,Pathogenic,55183,lof_flag,1,1461212,6.84363391485972e-7,0,0,,,37.0,,0.00,-0.320,1.70,,,0,33470,0,0,0,44722,0,0,0,26126,0,0,1,39636,0,0,0,53186,0,0,0,5764,0,0,0,1111688,0,0,,,,,0,86242,0,0,0,60378,0,0 -17-43076602-G-A,17,43076602,rs80357130,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1457Leu,p.Ser1457Leu,c.4370C>T,missense_variant,Uncertain significance,824837,,1,1461208,6.843652649041067e-7,0,0,,,26.9,0.279,0.450,0.480,2.78,0.0200,0.0180,0,33466,0,0,0,44724,0,0,0,26126,0,0,0,39632,0,0,0,53172,0,0,0,5764,0,0,1,1111706,0,0,,,,,0,86240,0,0,0,60378,0,0 -17-43076608-A-C,17,43076608,rs886040227,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1455Ter,p.Leu1455Ter,c.4364T>G,stop_gained,Pathogenic,266472,lof_flag,1,628214,0.0000015918142543782851,0,0,,,37.0,,0.140,0.0900,3.65,,,0,17678,0,0,0,43740,0,0,0,20972,0,0,0,35996,0,0,1,52880,0,0,0,4144,0,0,0,349936,0,0,,,,,0,69790,0,0,0,33078,0,0 -17-43076610-T-A,17,43076610,rs1467083210,T,A,gnomAD Exomes,PASS,NA,ENST00000461574.1,p.Val218Val,p.Val218Val,c.654A>T,splice_region_variant,Uncertain significance,2450660,,1,1461114,6.844092931831465e-7,0,0,,,9.72,,0.440,0.400,0.646,,,0,33464,0,0,0,44722,0,0,0,26122,0,0,0,39630,0,0,1,53136,0,0,0,5760,0,0,0,1111664,0,0,,,,,0,86244,0,0,0,60372,0,0 -17-43076610-T-C,17,43076610,rs1467083210,T,C,gnomAD Exomes,PASS,NA,ENST00000461574.1,p.Val218Val,p.Val218Val,c.654A>G,splice_region_variant,Likely benign,760435,,3,1461114,0.0000020532278795494395,0,0,nfe,7.200000000000001e-7,8.34,,0.140,0.00,0.646,,,0,33464,0,0,0,44722,0,0,0,26122,0,0,0,39630,0,0,0,53136,0,0,0,5760,0,0,3,1111664,0,0,,,,,0,86244,0,0,0,60372,0,0 -17-43076611-A-C,17,43076611,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1454Gly,p.Val1454Gly,c.4361T>G,missense_variant,,,,1,1461056,6.84436462394323e-7,0,0,,,19.1,0.270,0.130,0.200,-0.255,0.180,0.00,0,33464,0,0,0,44722,0,0,0,26120,0,0,1,39628,0,0,0,53100,0,0,0,5762,0,0,0,1111646,0,0,,,,,0,86242,0,0,0,60372,0,0 -17-43076611-A-G,17,43076611,rs587782606,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1454Ala,p.Val1454Ala,c.4361T>C,missense_variant,Conflicting interpretations of pathogenicity,142639,,6,1613236,0.0000037192326479200813,0,0,nfe,0.0000012399999999999998,17.7,0.257,0.00,0.120,-0.255,0.0300,0.0150,0,74916,0,0,0,59990,0,0,0,29590,0,0,0,44826,0,0,0,63718,0,0,0,6078,0,0,5,1179684,0,0,0,912,0,0,0,91060,0,0,1,62462,0,0 -17-43076615-CT-C,17,43076615,rs1353755235,CT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2del,,c.4358-2del,splice_acceptor_variant,Uncertain significance,841062,lof_flag,1,152002,0.0000065788608044630995,0,0,,,13.6,,0.0900,0.120,1.50,,,0,41376,0,0,0,15240,0,0,0,3472,0,0,0,5196,0,0,0,10576,0,0,0,316,0,0,1,68008,0,0,0,910,0,0,0,4818,0,0,0,2090,0,0 -17-43076624-G-A,17,43076624,rs80358111,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-10C>T,,c.4358-10C>T,intron_variant,Benign/Likely benign,125710,,390,1612410,0.0002418739650585149,0,0,amr,0.0008871700000000001,22.0,,0.100,0.0500,1.52,,,5,74984,0,0,66,59972,0,0,0,29578,0,0,0,44804,0,0,1,63378,0,0,0,6056,0,0,301,1179226,0,0,0,912,0,0,0,91032,0,0,17,62468,0,0 -17-43076627-T-C,17,43076627,rs1567780008,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-13A>G,,c.4358-13A>G,intron_variant,Conflicting interpretations of pathogenicity,681736,,1,832542,0.0000012011406031167197,0,0,,,13.8,,0.0200,0.0300,-0.173,,,0,15774,0,0,0,982,0,0,0,5144,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761376,0,0,,,,,0,16450,0,0,0,27290,0,0 -17-43076633-A-C,17,43076633,rs1357588437,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-19T>G,,c.4358-19T>G,intron_variant,,,,3,627300,0.000004782400765184122,0,0,sas,0.00001141,21.1,,0.140,0.180,1.71,,,0,17664,0,0,0,43730,0,0,0,20954,0,0,0,35988,0,0,0,52278,0,0,0,4142,0,0,0,349708,0,0,,,,,3,69778,0,0,0,33058,0,0 -17-43076635-C-A,17,43076635,rs776357552,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-21G>T,,c.4358-21G>T,intron_variant,,,,4,627060,0.000006378974898733773,0,0,nfe,0.00000228,13.9,,0.0400,0.0500,0.215,,,0,17664,0,0,0,43726,0,0,0,20954,0,0,0,35982,0,0,1,52146,0,0,0,4140,0,0,3,349626,0,0,,,,,0,69776,0,0,0,33046,0,0 -17-43076638-A-G,17,43076638,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-24T>C,,c.4358-24T>C,intron_variant,,,,1,831858,0.0000012021282478499937,0,0,,,18.1,,0.00,0.0500,4.66,,,0,15766,0,0,0,982,0,0,0,5146,0,0,0,3630,0,0,0,274,0,0,0,1620,0,0,1,760734,0,0,,,,,0,16446,0,0,0,27260,0,0 -17-43076640-C-G,17,43076640,rs2154075003,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-26G>C,,c.4358-26G>C,intron_variant,,,,1,1458274,6.857421856249237e-7,0,0,,,6.79,,0.0900,0.0500,0.770,,,0,33420,0,0,0,44706,0,0,0,26098,0,0,0,39608,0,0,0,52140,0,0,0,5758,0,0,1,1110068,0,0,,,,,0,86174,0,0,0,60302,0,0 -17-43076640-CTACTT-C,17,43076640,rs776362840,CTACTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-31_4358-27del,,c.4358-31_4358-27del,intron_variant,,,,9,1610494,0.000005588347426317639,0,0,nfe,0.00000292,13.5,,0.370,0.340,0.770,,,0,74948,0,0,0,59990,0,0,0,29570,0,0,0,44798,0,0,0,62730,0,0,0,6052,0,0,8,1178094,0,0,0,912,0,0,1,90990,0,0,0,62410,0,0 -17-43076642-A-G,17,43076642,rs759293156,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-28T>C,,c.4358-28T>C,intron_variant,Likely benign,2673889,,17,1609480,0.000010562417675274002,0,0,sas,0.0000036500000000000006,14.0,,0.0600,0.0500,1.35,,,0,74832,0,0,0,59974,0,0,0,29568,0,0,0,44812,0,0,0,62586,0,0,5,6070,0,0,9,1177340,0,0,0,912,0,0,2,91014,0,0,1,62372,0,0 -17-43076643-C-T,17,43076643,rs1469983215,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-29G>A,,c.4358-29G>A,intron_variant,,,,1,152078,0.000006575573061192283,0,0,,,8.18,,0.100,0.0600,1.35,,,0,41412,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10586,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4818,0,0,0,2090,0,0 -17-43076645-T-C,17,43076645,rs764503776,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-31A>G,,c.4358-31A>G,intron_variant,,,,1,1456710,6.864784342799871e-7,0,0,,,20.3,,0.450,0.390,1.65,,,0,33388,0,0,1,44708,0,0,0,26092,0,0,0,39596,0,0,0,51776,0,0,0,5752,0,0,0,1108998,0,0,,,,,0,86160,0,0,0,60240,0,0 -17-43076645-T-G,17,43076645,rs764503776,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-31A>C,,c.4358-31A>C,intron_variant,,,,2,1456708,0.0000013729587535731252,0,0,nfe,2.999999999999999e-7,18.1,,0.280,0.270,1.65,,,0,33388,0,0,0,44708,0,0,0,26092,0,0,0,39596,0,0,0,51776,0,0,0,5752,0,0,2,1108996,0,0,,,,,0,86160,0,0,0,60240,0,0 -17-43076648-C-T,17,43076648,rs2154075298,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-34G>A,,c.4358-34G>A,intron_variant,,,,1,1454116,6.877030443238366e-7,0,0,,,4.82,,0.0300,0.0300,-0.00400,,,0,33344,0,0,0,44694,0,0,0,26068,0,0,0,39584,0,0,0,51242,0,0,0,5742,0,0,1,1107172,0,0,,,,,0,86100,0,0,0,60170,0,0 -17-43076649-T-G,17,43076649,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-35A>C,,c.4358-35A>C,intron_variant,,,,1,1454426,6.875564655747353e-7,0,0,,,14.2,,0.00,0.0700,1.31,,,0,33350,0,0,0,44698,0,0,0,26070,0,0,0,39582,0,0,1,51298,0,0,0,5744,0,0,0,1107394,0,0,,,,,0,86104,0,0,0,60186,0,0 -17-43076649-T-A,17,43076649,rs2154075329,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-35A>T,,c.4358-35A>T,intron_variant,,,,2,1454426,0.0000013751129311494706,0,0,nfe,2.999999999999999e-7,14.1,,0.0500,0.100,1.31,,,0,33350,0,0,0,44698,0,0,0,26070,0,0,0,39582,0,0,0,51298,0,0,0,5744,0,0,2,1107394,0,0,,,,,0,86104,0,0,0,60186,0,0 -17-43076650-G-T,17,43076650,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-36C>A,,c.4358-36C>A,intron_variant,,,,1,1454640,6.874553154044987e-7,0,0,,,4.07,,0.0300,0.0100,0.448,,,0,33342,0,0,0,44690,0,0,0,26074,0,0,0,39572,0,0,0,51180,0,0,0,5750,0,0,1,1107746,0,0,,,,,0,86102,0,0,0,60184,0,0 -17-43076651-C-T,17,43076651,rs546408259,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-37G>A,,c.4358-37G>A,intron_variant,Likely benign,810908,,13,1605994,0.000008094675322572812,0,0,nfe,0.00000617,0.358,,0.0200,0.0200,0.0330,,,0,74868,0,0,0,59950,0,0,0,29532,0,0,0,44760,0,0,0,61804,0,0,0,6040,0,0,13,1174956,0,0,0,912,0,0,0,90896,0,0,0,62276,0,0 -17-43076656-T-C,17,43076656,rs767903443,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-42A>G,,c.4358-42A>G,intron_variant,,,,1,1452574,6.884330849925718e-7,0,0,,,12.0,,0.0200,-0.0200,1.24,,,0,33314,0,0,0,44686,0,0,0,26066,0,0,0,39574,0,0,0,50780,0,0,0,5744,0,0,1,1106220,0,0,,,,,0,86048,0,0,0,60142,0,0 -17-43076657-T-G,17,43076657,rs2052749969,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-43A>C,,c.4358-43A>C,intron_variant,,,,6,1604446,0.00000373960856270638,0,0,nfe,0.00000125,4.92,,0.0200,-0.0100,0.397,,,0,74750,0,0,0,59960,0,0,0,29538,0,0,0,44782,0,0,0,61296,0,0,0,6060,0,0,5,1174048,0,0,0,912,0,0,0,90866,0,0,1,62234,0,0 -17-43076659-T-C,17,43076659,rs869320778,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-45A>G,,c.4358-45A>G,intron_variant,Likely benign,225709,,8,1602886,0.000004990997488280514,0,0,nfe,0.00000184,13.1,,0.00,-0.0500,0.105,,,0,74728,0,0,1,59942,0,0,0,29536,0,0,0,44762,0,0,0,60906,0,0,1,6058,0,0,6,1173104,0,0,0,912,0,0,0,90788,0,0,0,62150,0,0 -17-43076659-T-G,17,43076659,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-45A>C,,c.4358-45A>C,intron_variant,,,,1,1450684,6.893299988143524e-7,0,0,,,12.8,,0.00,-0.0200,0.105,,,0,33268,0,0,0,44672,0,0,0,26064,0,0,0,39558,0,0,0,50294,0,0,0,5742,0,0,1,1105068,0,0,,,,,0,85956,0,0,0,60062,0,0 -17-43076660-G-A,17,43076660,rs2052750385,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-46C>T,,c.4358-46C>T,intron_variant,,,,1,1449376,6.899520897268894e-7,0,0,,,9.13,,0.0100,0.0300,1.75,,,0,33242,0,0,0,44654,0,0,0,26058,0,0,1,39544,0,0,0,50206,0,0,0,5738,0,0,0,1104026,0,0,,,,,0,85882,0,0,0,60026,0,0 -17-43076662-T-C,17,43076662,rs200393646,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-48A>G,,c.4358-48A>G,intron_variant,Likely benign,803412,,251,1601778,0.00015670086616247693,0,0,nfe,0.00018355,13.4,,0.00,0.00,0.579,,,1,74806,0,0,1,59974,0,0,2,29520,0,0,0,44744,0,0,0,60592,0,0,0,6026,0,0,241,1172270,0,0,0,912,0,0,0,90750,0,0,6,62184,0,0 -17-43076662-T-TA,17,43076662,rs2052750882,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-49dup,,c.4358-49dup,intron_variant,,,,1,1449466,6.899092493373421e-7,0,0,,,10.3,,0.00,0.0200,0.579,,,1,33226,0,0,0,44678,0,0,0,26050,0,0,0,39554,0,0,0,49986,0,0,0,5734,0,0,0,1104240,0,0,,,,,0,85924,0,0,0,60074,0,0 -17-43076663-A-G,17,43076663,rs1247459831,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-49T>C,,c.4358-49T>C,intron_variant,,,,2,1602250,0.0000012482446559525668,0,0,,,12.4,,0.00,-0.0300,0.394,,,1,74696,0,0,0,59934,0,0,0,29536,0,0,0,44746,0,0,0,60586,0,0,0,6046,0,0,1,1172874,0,0,0,912,0,0,0,90756,0,0,0,62164,0,0 -17-43076664-G-C,17,43076664,rs780108116,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-50C>G,,c.4358-50C>G,intron_variant,,,,2,1448190,0.000001381034256554734,0,0,nfe,2.999999999999999e-7,13.9,,0.0100,0.0300,2.76,,,0,33184,0,0,0,44646,0,0,0,26032,0,0,0,39520,0,0,0,49696,0,0,0,5736,0,0,2,1103452,0,0,,,,,0,85892,0,0,0,60032,0,0 -17-43076665-T-C,17,43076665,rs1186641548,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-51A>G,,c.4358-51A>G,intron_variant,,,,13,1600962,0.000008120117779185265,0,0,nfe,0.00000546,10.5,,0.00,-0.0200,-0.450,,,1,74660,0,0,0,59922,0,0,0,29512,0,0,0,44736,0,0,0,60278,0,0,0,6050,0,0,12,1172020,0,0,0,912,0,0,0,90710,0,0,0,62162,0,0 -17-43076668-T-C,17,43076668,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-54A>G,,c.4358-54A>G,intron_variant,,,,1,1444652,6.922082273101065e-7,0,0,,,12.2,,0.00,0.0100,-0.130,,,0,33158,0,0,0,44630,0,0,0,26012,0,0,0,39518,0,0,0,48628,0,0,0,5716,0,0,0,1101328,0,0,,,,,1,85740,0,0,0,59922,0,0 -17-43076670-A-G,17,43076670,rs1344382323,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-56T>C,,c.4358-56T>C,intron_variant,,,,5,1444548,0.000003461290313648283,0,0,nfe,0.0000013299999999999998,18.4,,0.00,0.0100,0.725,,,0,33164,0,0,0,44634,0,0,0,25996,0,0,0,39510,0,0,0,48596,0,0,0,5714,0,0,5,1101280,0,0,,,,,0,85734,0,0,0,59920,0,0 -17-43076675-G-C,17,43076675,rs2052751613,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-61C>G,,c.4358-61C>G,intron_variant,,,,15,1587738,0.000009447402531148085,0,0,sas,0.00010174999999999999,15.6,,0.00,0.0100,1.03,,,0,74350,0,0,0,59728,0,0,0,29394,0,0,0,44568,0,0,0,57994,0,0,0,5988,0,0,0,1163084,0,0,0,912,0,0,15,90040,0,0,0,61680,0,0 -17-43076676-G-C,17,43076676,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-62C>G,,c.4358-62C>G,intron_variant,,,,1,1431600,6.985191394244202e-7,0,0,,,16.2,,0.00,0.0100,1.44,,,0,32880,0,0,0,44440,0,0,0,25856,0,0,0,39370,0,0,0,47196,0,0,0,5668,0,0,1,1091700,0,0,,,,,0,85076,0,0,0,59414,0,0 -17-43076676-G-A,17,43076676,rs2052751784,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-62C>T,,c.4358-62C>T,intron_variant,,,,8,1431600,0.0000055881531153953615,0,0,afr,0.00001007,16.4,,0.00,0.0100,1.44,,,2,32880,0,0,0,44440,0,0,0,25856,0,0,0,39370,0,0,0,47196,0,0,0,5668,0,0,6,1091700,0,0,,,,,0,85076,0,0,0,59414,0,0 -17-43076680-G-T,17,43076680,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-66C>A,,c.4358-66C>A,intron_variant,,,,1,1427744,7.004056749669409e-7,0,0,,,9.35,,0.00,0.00,0.824,,,0,32770,0,0,0,44418,0,0,0,25836,0,0,0,39376,0,0,0,46428,0,0,0,5634,0,0,1,1089042,0,0,,,,,0,84890,0,0,0,59350,0,0 -17-43076683-T-C,17,43076683,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-69A>G,,c.4358-69A>G,intron_variant,,,,1,1424624,7.019395995013422e-7,0,0,,,4.59,,0.00,0.00,0.384,,,0,32684,0,0,0,44392,0,0,0,25834,0,0,0,39374,0,0,0,45800,0,0,0,5608,0,0,1,1086956,0,0,,,,,0,84746,0,0,0,59230,0,0 -17-43076683-T-A,17,43076683,rs1252155289,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-69A>T,,c.4358-69A>T,intron_variant,,,,45,1424622,0.00003158732632235077,0,0,nfe,0.00002686,4.02,,0.00,0.00,0.384,,,0,32684,0,0,0,44392,0,0,0,25834,0,0,0,39374,0,0,0,45800,0,0,0,5608,0,0,39,1086954,0,0,,,,,0,84746,0,0,6,59230,0,0 -17-43076684-A-C,17,43076684,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-70T>G,,c.4358-70T>G,intron_variant,,,,1,615568,0.0000016245158942635095,0,0,,,5.45,,0.00,-0.0400,0.0770,,,0,17484,0,0,0,43372,0,0,0,20834,0,0,0,35854,0,0,0,45476,0,0,0,4010,0,0,1,347034,0,0,,,,,0,68760,0,0,0,32744,0,0 -17-43076684-A-G,17,43076684,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-70T>C,,c.4358-70T>C,intron_variant,,,,1,615568,0.0000016245158942635095,0,0,,,5.78,,0.00,-0.0200,0.0770,,,0,17484,0,0,0,43372,0,0,0,20834,0,0,0,35854,0,0,0,45476,0,0,0,4010,0,0,1,347034,0,0,,,,,0,68760,0,0,0,32744,0,0 -17-43076686-T-C,17,43076686,rs2154076105,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-72A>G,,c.4358-72A>G,intron_variant,,,,2,1419512,0.0000014089349015718078,0,0,,,0.0950,,0.00,-0.0200,-4.24,,,0,32582,0,0,0,44312,0,0,0,25800,0,0,0,39344,0,0,0,45346,0,0,0,5574,0,0,1,1082952,0,0,,,,,0,84546,0,0,1,59056,0,0 -17-43076688-A-AT,17,43076688,rs1229841780,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-75dup,,c.4358-75dup,intron_variant,,,,4,1412926,0.0000028310045961359617,0,0,afr,0.0000102,9.88,,0.00,0.0200,0.272,,,2,32474,0,0,0,44320,0,0,0,25744,0,0,0,39286,0,0,0,44796,0,0,0,5526,0,0,0,1077630,0,0,,,,,2,84322,0,0,0,58828,0,0 -17-43076689-T-C,17,43076689,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-75A>G,,c.4358-75A>G,intron_variant,,,,1,797904,0.0000012532836030399648,0,0,,,5.82,,0.00,0.0100,-0.651,,,0,14952,0,0,0,928,0,0,0,4916,0,0,0,3472,0,0,0,270,0,0,0,1560,0,0,1,730016,0,0,,,,,0,15678,0,0,0,26112,0,0 -17-43079259-C-T,17,43079259,rs2154103718,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2645G>A,,c.4358-2645G>A,intron_variant,,,,2,597646,0.000003346462621685747,0,0,nfe,9.699999999999998e-7,6.21,,0.00,0.00,0.439,,,0,17020,0,0,0,42416,0,0,0,20686,0,0,0,35314,0,0,0,36742,0,0,0,3434,0,0,2,341694,0,0,,,,,0,68038,0,0,0,32302,0,0 -17-43079259-C-A,17,43079259,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2645G>T,,c.4358-2645G>T,intron_variant,,,,1,597646,0.0000016732313108428736,0,0,,,5.57,,0.00,0.0100,0.439,,,0,17020,0,0,0,42416,0,0,0,20686,0,0,0,35314,0,0,0,36742,0,0,0,3434,0,0,1,341694,0,0,,,,,0,68038,0,0,0,32302,0,0 -17-43079260-C-G,17,43079260,rs1446132166,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2646G>C,,c.4358-2646G>C,intron_variant,,,,15,1157052,0.000012963980875535413,0,0,nfe,0.00001151,0.972,,0.00,0.0100,-1.99,,,0,65942,0,0,0,58216,0,0,0,26774,0,0,0,42272,0,0,0,47548,0,0,0,4592,0,0,15,782428,0,0,0,912,0,0,0,80720,0,0,0,47648,0,0 -17-43079262-C-G,17,43079262,rs2154103785,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2648G>C,,c.4358-2648G>C,intron_variant,,,,1,1023842,9.767132037951169e-7,0,0,,,0.518,,0.00,0.0100,-1.04,,,0,24904,0,0,0,43222,0,0,0,23420,0,0,0,37284,0,0,0,37056,0,0,0,4326,0,0,1,730994,0,0,,,,,0,76404,0,0,0,46232,0,0 -17-43079262-C-T,17,43079262,rs2154103785,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2648G>A,,c.4358-2648G>A,intron_variant,,,,2,1023842,0.0000019534264075902337,0,0,nfe,4.6000000000000004e-7,0.637,,0.00,0.0200,-1.04,,,0,24904,0,0,0,43222,0,0,0,23420,0,0,0,37284,0,0,0,37056,0,0,0,4326,0,0,2,730994,0,0,,,,,0,76404,0,0,0,46232,0,0 -17-43079263-C-T,17,43079263,rs999181037,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2649G>A,,c.4358-2649G>A,intron_variant,,,,5,1215886,0.000004112227626603152,0,0,nfe,9.6e-7,2.46,,0.00,0.0100,-0.332,,,0,67062,0,0,1,58622,0,0,0,27150,0,0,0,42702,0,0,0,47782,0,0,0,4764,0,0,3,835206,0,0,0,912,0,0,0,82032,0,0,1,49654,0,0 -17-43079268-G-T,17,43079268,rs2154103914,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2654C>A,,c.4358-2654C>A,intron_variant,,,,3,1094770,0.0000027403016158645194,0,0,nfe,0.0000010100000000000003,0.816,,0.00,0.0300,-1.08,,,0,26242,0,0,0,43656,0,0,0,23876,0,0,0,37820,0,0,0,37388,0,0,0,4518,0,0,3,794444,0,0,,,,,0,78252,0,0,0,48574,0,0 -17-43079269-G-A,17,43079269,rs2154103993,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2655C>T,,c.4358-2655C>T,intron_variant,,,,1,1131722,8.836092255872025e-7,0,0,,,2.52,,0.00,0.0300,0.548,,,0,26932,0,0,0,43680,0,0,0,24120,0,0,0,37944,0,0,0,37426,0,0,0,4604,0,0,1,828146,0,0,,,,,0,79036,0,0,0,49834,0,0 -17-43079270-C-T,17,43079270,rs2154104027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2656G>A,,c.4358-2656G>A,intron_variant,,,,5,1151468,0.000004342283068222477,0,0,sas,0.000016760000000000002,2.79,,0.00,0.0100,-0.318,,,0,27342,0,0,0,43732,0,0,0,24262,0,0,0,38034,0,0,0,37422,0,0,0,4640,0,0,1,846176,0,0,,,,,4,79380,0,0,0,50480,0,0 -17-43079271-C-T,17,43079271,rs2154104072,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2657G>A,,c.4358-2657G>A,intron_variant,,,,3,1166358,0.00000257210907800178,0,0,nfe,9.300000000000002e-7,3.29,,0.00,0.0200,-0.212,,,0,27586,0,0,0,43842,0,0,0,24352,0,0,0,38154,0,0,0,37508,0,0,0,4686,0,0,3,859426,0,0,,,,,0,79826,0,0,0,50978,0,0 -17-43079272-A-G,17,43079272,rs1376711179,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2658T>C,,c.4358-2658T>C,intron_variant,,,,1,152238,0.0000065686622262510016,0,0,,,4.00,,0.0100,0.0100,0.433,,,1,41454,0,0,0,15284,0,0,0,3472,0,0,0,5208,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43079273-G-A,17,43079273,rs2154104144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2659C>T,,c.4358-2659C>T,intron_variant,,,,1,1184354,8.443421477024606e-7,0,0,,,2.26,,0.00,0.0100,0.530,,,0,27998,0,0,0,43978,0,0,0,24458,0,0,0,38234,0,0,0,37572,0,0,0,4724,0,0,1,875672,0,0,,,,,0,80244,0,0,0,51474,0,0 -17-43079276-C-A,17,43079276,rs1202016798,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2662G>T,,c.4358-2662G>T,intron_variant,,,,37,1360024,0.00002720540225760722,0,0,nfe,0.00002731,2.08,,0.00,0.00,-0.294,,,1,69894,0,0,0,59356,0,0,0,28110,0,0,0,43608,0,0,0,48250,0,0,0,5116,0,0,36,964796,0,0,0,912,0,0,0,85678,0,0,0,54304,0,0 -17-43079277-C-G,17,43079277,rs1567781381,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2663G>C,,c.4358-2663G>C,intron_variant,,,,2,1367488,0.0000014625356858707352,0,0,,,2.24,,0.00,0.00,0.553,,,0,70010,0,0,0,59394,0,0,0,28144,0,0,0,43642,0,0,0,48244,0,0,0,5120,0,0,2,971570,0,0,0,912,0,0,0,85918,0,0,0,54534,0,0 -17-43079278-AC-A,17,43079278,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2665del,,c.4358-2665del,intron_variant,,,,2,1223736,0.0000016343394326880962,0,0,nfe,3.7000000000000006e-7,2.48,,0.00,0.0200,-1.16,,,0,28736,0,0,0,44154,0,0,0,24756,0,0,0,38530,0,0,0,37672,0,0,0,4812,0,0,2,911074,0,0,,,,,0,81252,0,0,0,52750,0,0 -17-43079279-C-T,17,43079279,rs2052888036,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2665G>A,,c.4358-2665G>A,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,5.32,,0.00,0.0100,-0.216,,,0,41430,0,0,0,15274,0,0,0,3470,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43079280-C-T,17,43079280,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2666G>A,,c.4358-2666G>A,intron_variant,,,,1,631214,0.0000015842487650780875,0,0,,,2.71,,0.00,0.0100,-3.92,,,0,11556,0,0,0,676,0,0,0,4014,0,0,0,2684,0,0,0,204,0,0,0,1234,0,0,1,577980,0,0,,,,,0,12326,0,0,0,20540,0,0 -17-43079281-A-G,17,43079281,rs147704942,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2667T>C,,c.4358-2667T>C,intron_variant,,,,11,1405318,0.000007827409881606867,0,0,nfe,0.00000503,7.01,,0.00,0.00,-1.91,,,0,70858,0,0,0,59538,0,0,0,28418,0,0,1,43886,0,0,0,48398,0,0,0,5164,0,0,10,1005430,0,0,0,912,0,0,0,86736,0,0,0,55978,0,0 -17-43079283-C-G,17,43079283,rs1342573911,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2669G>C,,c.4358-2669G>C,intron_variant,,,,17,1424574,0.00001193339201754349,0,0,nfe,0.00000926,4.48,,0.00,0.0100,0.553,,,0,71112,0,0,0,59582,0,0,0,28500,0,0,0,43992,0,0,0,48418,0,0,0,5240,0,0,16,1023082,0,0,0,912,0,0,0,87136,0,0,1,56600,0,0 -17-43079287-C-A,17,43079287,rs754014482,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2673G>T,,c.4358-2673G>T,intron_variant,,,,13,1299674,0.0000100025083213175,0,0,nfe,0.000007400000000000001,4.84,,0.0100,0.00,0.298,,,0,30276,0,0,0,44358,0,0,0,25218,0,0,0,38930,0,0,0,37818,0,0,0,4978,0,0,13,979732,0,0,,,,,0,82946,0,0,0,55418,0,0 -17-43079288-A-G,17,43079288,rs1476095148,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2674T>C,,c.4358-2674T>C,intron_variant,,,,37,1308538,0.000028275831500499032,0,0,nfe,0.00002763,7.80,,0.0200,0.0100,0.238,,,0,30442,0,0,0,44388,0,0,0,25280,0,0,0,38992,0,0,0,37864,0,0,0,4996,0,0,37,987742,0,0,,,,,0,83118,0,0,0,55716,0,0 -17-43079289-G-C,17,43079289,rs1187077196,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2675C>G,,c.4358-2675C>G,intron_variant,,,,4,1327646,0.0000030128513172939174,0,0,nfe,9.300000000000002e-7,6.31,,0.0300,0.00,0.296,,,0,30804,0,0,0,44406,0,0,0,25388,0,0,0,39090,0,0,0,37870,0,0,0,5040,0,0,4,1005198,0,0,,,,,0,83518,0,0,0,56332,0,0 -17-43079289-G-A,17,43079289,rs1187077196,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2675C>T,,c.4358-2675C>T,intron_variant,,,,1,1327646,7.532128293234793e-7,0,0,,,6.69,,0.00,0.0200,0.296,,,0,30804,0,0,0,44406,0,0,1,25388,0,0,0,39090,0,0,0,37870,0,0,0,5040,0,0,0,1005198,0,0,,,,,0,83518,0,0,0,56332,0,0 -17-43079289-G-T,17,43079289,rs1187077196,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2675C>A,,c.4358-2675C>A,intron_variant,,,,1,152210,0.000006569870573549701,0,0,,,6.18,,0.00,0.0200,0.296,,,1,41458,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10626,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43079290-T-C,17,43079290,rs755174729,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2676A>G,,c.4358-2676A>G,intron_variant,,,,1,1332272,7.505974755905701e-7,0,0,,,7.96,,0.00,0.00,0.239,,,0,30898,0,0,0,44420,0,0,0,25396,0,0,0,39110,0,0,0,37886,0,0,0,5036,0,0,0,1009482,0,0,,,,,1,83608,0,0,0,56436,0,0 -17-43079297-C-T,17,43079297,rs779149878,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2683G>A,,c.4358-2683G>A,intron_variant,,,,10,1531296,0.000006530416065868389,0,0,afr,0.00005377999999999998,6.45,,0.00,0.0400,0.298,,,8,73338,0,0,0,59788,0,0,0,29176,0,0,0,44522,0,0,0,48580,0,0,0,5460,0,0,0,1119990,0,0,0,912,0,0,1,89500,0,0,1,60030,0,0 -17-43079298-C-T,17,43079298,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2684G>A,,c.4358-2684G>A,intron_variant,,,,2,1385678,0.0000014433367636637084,0,0,nfe,3.1e-7,7.44,,0.0300,0.0500,0.298,,,0,32046,0,0,0,44550,0,0,0,25748,0,0,0,39364,0,0,0,37996,0,0,0,5182,0,0,2,1057802,0,0,,,,,0,84812,0,0,0,58178,0,0 -17-43079298-C-G,17,43079298,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2684G>C,,c.4358-2684G>C,intron_variant,,,,7,1385680,0.000005051671381559956,0,0,nfe,0.00000275,7.02,,0.00,0.0500,0.298,,,0,32046,0,0,0,44550,0,0,0,25748,0,0,0,39364,0,0,0,37996,0,0,0,5182,0,0,7,1057804,0,0,,,,,0,84812,0,0,0,58178,0,0 -17-43079299-A-G,17,43079299,rs747894403,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2685T>C,,c.4358-2685T>C,intron_variant,,,,6,1390820,0.000004314001811880761,0,0,amr,0.00004370999999999998,9.14,,0.00,0.0400,0.238,,,0,32158,0,0,5,44566,0,0,0,25770,0,0,0,39380,0,0,0,38008,0,0,0,5210,0,0,1,1062438,0,0,,,,,0,84930,0,0,0,58360,0,0 -17-43079304-GACGA-G,17,43079304,rs1377502495,GACGA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2694_4358-2691del,,c.4358-2694_4358-2691del,intron_variant,,,,16,1552190,0.000010308016415516141,0,0,nfe,0.00000637,7.21,,0.00,0.0100,0.296,,,0,73772,0,0,2,59880,0,0,0,29302,0,0,0,44640,0,0,0,48666,0,0,0,5558,0,0,13,1138664,0,0,0,912,0,0,0,90000,0,0,1,60796,0,0 -17-43079306-C-T,17,43079306,rs543238533,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2692G>A,,c.4358-2692G>A,intron_variant,,,,69,1558942,0.000044260787123574835,0,0,nfe,0.0000448,7.82,,0.0100,0.00,0.298,,,0,74042,0,0,0,59894,0,0,0,29356,0,0,2,44668,0,0,0,48638,0,0,0,5538,0,0,64,1144752,0,0,0,912,0,0,1,90100,0,0,2,61042,0,0 -17-43079307-G-A,17,43079307,rs934287924,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2693C>T,,c.4358-2693C>T,intron_variant,,,,4,1562354,0.0000025602392287535346,0,0,nfe,6.999999999999999e-7,8.34,,0.00,0.0400,0.296,,,1,74026,0,0,0,59890,0,0,0,29364,0,0,0,44688,0,0,0,48650,0,0,0,5572,0,0,3,1147878,0,0,0,912,0,0,0,90240,0,0,0,61134,0,0 -17-43079314-A-G,17,43079314,rs2154105191,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2700T>C,,c.4358-2700T>C,intron_variant,,,,9,1425306,0.0000063144335321678296,0,0,nfe,0.0000031500000000000003,12.2,,0.0400,0.0100,0.238,,,0,32958,0,0,0,44648,0,0,0,25984,0,0,0,39566,0,0,0,38110,0,0,0,5316,0,0,8,1093416,0,0,,,,,1,85742,0,0,0,59566,0,0 -17-43079314-A-C,17,43079314,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2700T>G,,c.4358-2700T>G,intron_variant,,,,1,1425306,7.016037257964254e-7,0,0,,,11.9,,0.0600,0.0100,0.238,,,0,32958,0,0,0,44648,0,0,0,25984,0,0,1,39566,0,0,0,38110,0,0,0,5316,0,0,0,1093416,0,0,,,,,0,85742,0,0,0,59566,0,0 -17-43079318-G-A,17,43079318,rs562625234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2704C>T,,c.4358-2704C>T,intron_variant,Benign,136548,,65,1582680,0.00004106957818384007,1,0,amr,0.0007980100000000003,11.1,,0.00,0.0700,0.296,,,0,74646,0,0,60,59960,1,0,0,29490,0,0,0,44792,0,0,0,48728,0,0,0,5600,0,0,1,1166052,0,0,0,912,0,0,0,90668,0,0,4,61832,0,0 -17-43079321-A-C,17,43079321,rs1432975091,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2707T>G,,c.4358-2707T>G,intron_variant,,,,2,1585836,0.0000012611644583677,0,0,,,12.7,,0.0600,0.0200,0.238,,,0,74592,0,0,0,59956,0,0,0,29504,0,0,0,44816,0,0,0,48766,0,0,0,5630,0,0,0,1168948,0,0,0,912,0,0,2,90764,0,0,0,61948,0,0 -17-43079329-G-T,17,43079329,rs746972533,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2715C>A,,c.4358-2715C>A,intron_variant,Likely benign,371860,,40,1590192,0.000025154195216678238,0,0,nfe,0.00002328,10.8,,0.00,0.0800,0.296,,,0,74694,0,0,0,59966,0,0,0,29542,0,0,0,44842,0,0,0,48796,0,0,0,5628,0,0,37,1172870,0,0,1,912,0,0,0,90854,0,0,2,62088,0,0 -17-43079329-G-A,17,43079329,rs746972533,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2715C>T,,c.4358-2715C>T,intron_variant,,,,1,1438008,6.95406423330051e-7,0,0,,,11.3,,0.00,0.0700,0.296,,,0,33250,0,0,0,44692,0,0,0,26072,0,0,0,39640,0,0,0,38194,0,0,0,5312,0,0,0,1104830,0,0,,,,,1,86022,0,0,0,59996,0,0 -17-43079330-G-C,17,43079330,rs193146830,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2716C>G,,c.4358-2716C>G,intron_variant,Likely benign,491076,,11,1590332,0.000006916794732169132,0,0,eas,0.00013712999999999998,12.5,,0.210,0.0100,0.296,,,0,74798,0,0,0,59984,0,0,0,29542,0,0,11,44818,0,0,0,48802,0,0,0,5588,0,0,0,1172934,0,0,0,910,0,0,0,90854,0,0,0,62102,0,0 -17-43079331-C-A,17,43079331,rs776303574,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2717G>T,,c.4358-2717G>T,intron_variant,,,,5,1439426,0.0000034736068405044788,0,0,nfe,0.0000013199999999999999,16.3,,0.370,0.0200,0.298,,,0,33294,0,0,0,44694,0,0,0,26074,0,0,0,39650,0,0,0,38192,0,0,0,5310,0,0,5,1106126,0,0,,,,,0,86058,0,0,0,60028,0,0 -17-43079333-C-T,17,43079333,rs2052891476,C,T,gnomAD Genomes,NA,PASS,ENST00000471181.7,c.4423+1G>A,,c.4423+1G>A,splice_donor_variant,,,,1,152114,0.0000065740168557792186,0,0,,,23.3,,0.430,0.0100,0.298,,,0,41420,0,0,0,15258,0,0,0,3472,0,0,0,5190,0,0,0,10600,0,0,0,314,0,0,1,68034,0,0,0,908,0,0,0,4828,0,0,0,2090,0,0 -17-43079334-C-T,17,43079334,rs183331660,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Val1475Ile,p.Val1475Ile,c.4423G>A,missense_variant,Likely benign,371872,,80,1592994,0.00005021990038882758,2,0,amr,0.00106705,21.8,,0.430,0.0100,0.298,,,1,74872,0,0,78,59988,2,0,0,29562,0,0,0,44840,0,0,0,48784,0,0,0,5606,0,0,1,1175318,0,0,0,912,0,0,0,90918,0,0,0,62194,0,0 -17-43079336-G-A,17,43079336,rs1209769958,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1474Leu,p.Ser1474Leu,c.4421C>T,missense_variant,,,,1,1441220,6.938565937192101e-7,0,0,,,24.4,,0.410,0.0200,-0.686,,,0,33346,0,0,1,44704,0,0,0,26094,0,0,0,39648,0,0,0,38218,0,0,0,5312,0,0,0,1107694,0,0,,,,,0,86112,0,0,0,60092,0,0 -17-43079339-A-G,17,43079339,rs374519494,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ile1473Thr,p.Ile1473Thr,c.4418T>C,missense_variant,Conflicting interpretations of pathogenicity,523689,,88,1594320,0.00005519594560690451,0,0,afr,0.00019886999999999997,12.1,,0.00,0.0400,0.238,,,22,74820,0,0,1,59982,0,0,1,29574,0,0,0,44856,0,0,0,48850,0,0,1,5628,0,0,58,1176530,0,0,0,912,0,0,0,90942,0,0,5,62226,0,0 -17-43079340-T-C,17,43079340,rs775348455,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ile1473Val,p.Ile1473Val,c.4417A>G,missense_variant,Uncertain significance,371813,,22,1442362,0.000015252759016113847,0,0,amr,0.00005806999999999997,11.6,,0.0900,0.0100,-0.843,,,0,33370,0,0,6,44702,0,0,0,26106,0,0,0,39658,0,0,0,38244,0,0,1,5312,0,0,13,1108698,0,0,,,,,2,86126,0,0,0,60146,0,0 -17-43079343-G-A,17,43079343,rs2154105995,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.His1472Tyr,p.His1472Tyr,c.4414C>T,missense_variant,,,,1,1443222,6.928940939093223e-7,0,0,,,19.4,,0.130,0.00,0.303,,,0,33384,0,0,0,44704,0,0,0,26110,0,0,0,39668,0,0,0,38258,0,0,0,5308,0,0,0,1109486,0,0,,,,,0,86142,0,0,1,60162,0,0 -17-43079347-T-C,17,43079347,rs2052892864,T,C,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.Arg1470Arg,p.Arg1470Arg,c.4410A>G,synonymous_variant,,,,1,152178,0.000006571252086372537,0,0,,,13.1,,0.190,0.00,0.244,,,0,41442,0,0,1,15276,0,0,0,3470,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43079349-T-C,17,43079349,rs1057517571,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Arg1470Gly,p.Arg1470Gly,c.4408A>G,missense_variant,Likely benign,371865,,3,1595652,0.0000018801091967421469,0,0,amr,0.00001327,19.3,,0.490,0.370,0.244,,,0,74844,0,0,3,59990,0,0,0,29574,0,0,0,44864,0,0,0,48874,0,0,0,5576,0,0,0,1177786,0,0,0,912,0,0,0,90986,0,0,0,62246,0,0 -17-43079351-G-C,17,43079351,,G,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Pro1469Arg,p.Pro1469Arg,c.4406C>G,missense_variant,,,,3,1444454,0.0000020769093373689987,0,0,,,23.2,,0.0200,0.460,0.303,,,0,33412,0,0,0,44710,0,0,0,26118,0,0,0,39670,0,0,3,38276,0,0,0,5268,0,0,0,1110624,0,0,,,,,0,86182,0,0,0,60194,0,0 -17-43079352-G-A,17,43079352,rs1555583238,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Pro1469Ser,p.Pro1469Ser,c.4405C>T,missense_variant,Likely benign,491078,,3,1444452,0.0000020769122130745776,0,0,nfe,7.200000000000001e-7,23.5,,0.200,0.0200,0.303,,,0,33410,0,0,0,44714,0,0,0,26118,0,0,0,39672,0,0,0,38270,0,0,0,5252,0,0,3,1110636,0,0,,,,,0,86180,0,0,0,60200,0,0 -17-43079353-C-T,17,43079353,rs1006230499,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Arg,p.Arg1468Arg,c.4404G>A,synonymous_variant,Likely benign,1176661,,5,1444492,0.0000034614245007933585,0,0,nfe,0.0000013199999999999999,12.2,,0.110,0.0900,0.305,,,0,33416,0,0,0,44714,0,0,0,26118,0,0,0,39670,0,0,0,38266,0,0,0,5256,0,0,5,1110678,0,0,,,,,0,86180,0,0,0,60194,0,0 -17-43079354-C-T,17,43079354,rs762068981,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Lys,p.Arg1468Lys,c.4403G>A,missense_variant,,,,2,1444724,0.0000013843474601377149,0,0,,,11.8,,0.120,0.00,0.305,,,0,33426,0,0,0,44714,0,0,0,26120,0,0,0,39672,0,0,0,38288,0,0,0,5272,0,0,1,1110842,0,0,,,,,0,86184,0,0,1,60206,0,0 -17-43079354-C-G,17,43079354,,C,G,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Thr,p.Arg1468Thr,c.4403G>C,missense_variant,Uncertain significance,2574679,,1,1444724,6.921737300688574e-7,0,0,,,14.0,,0.190,0.130,0.305,,,0,33426,0,0,0,44714,0,0,0,26120,0,0,0,39672,0,0,0,38288,0,0,0,5272,0,0,0,1110842,0,0,,,,,1,86184,0,0,0,60206,0,0 -17-43079358-T-C,17,43079358,,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Lys1467Glu,p.Lys1467Glu,c.4399A>G,missense_variant,,,,1,1445012,6.920357754814493e-7,0,0,,,12.8,,0.310,0.260,0.244,,,0,33430,0,0,0,44708,0,0,0,26114,0,0,0,39680,0,0,0,38316,0,0,0,5270,0,0,1,1111100,0,0,,,,,0,86184,0,0,0,60210,0,0 -17-43079360-G-T,17,43079360,,G,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1466Tyr,p.Ser1466Tyr,c.4397C>A,missense_variant,,,,5,1445002,0.0000034602028232486877,0,0,nfe,0.0000013199999999999999,19.5,,0.0600,0.00,0.303,,,0,33432,0,0,0,44706,0,0,0,26112,0,0,0,39676,0,0,0,38326,0,0,0,5252,0,0,5,1111118,0,0,,,,,0,86178,0,0,0,60202,0,0 -17-43079361-A-T,17,43079361,,A,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1466Thr,p.Ser1466Thr,c.4396T>A,missense_variant,,,,5,832344,0.000006007131666714724,0,0,nfe,0.0000019200000000000003,12.6,,0.0100,0.0300,0.244,,,0,15756,0,0,0,982,0,0,0,5146,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,5,761222,0,0,,,,,0,16444,0,0,0,27274,0,0 -17-43079369-G-C,17,43079369,rs1014956762,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1463Cys,p.Ser1463Cys,c.4388C>G,missense_variant,Uncertain significance,2635525,,2,764944,0.0000026145704783618145,0,0,,,18.7,,0.0200,0.0100,0.303,,,2,59082,0,0,0,58988,0,0,0,24442,0,0,0,41250,0,0,0,48730,0,0,0,3952,0,0,0,417992,0,0,0,912,0,0,0,74574,0,0,0,35022,0,0 -17-43079370-A-T,17,43079370,rs2154106663,A,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1463Thr,p.Ser1463Thr,c.4387T>A,missense_variant,,,,2,1445072,0.000001384014083727316,0,0,nfe,2.999999999999999e-7,9.70,,0.00,0.0200,0.244,,,0,33430,0,0,0,44708,0,0,0,26118,0,0,0,39676,0,0,0,38408,0,0,0,5252,0,0,2,1111076,0,0,,,,,0,86192,0,0,0,60212,0,0 -17-43079372-T-G,17,43079372,rs2052894113,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Asn1462Thr,p.Asn1462Thr,c.4385A>C,missense_variant,,,,2,984098,0.000002032317919556792,0,0,,,12.7,,0.0900,0.00,0.244,,,0,57084,0,0,0,16226,0,0,0,8618,0,0,0,8794,0,0,0,10862,0,0,0,1936,0,0,2,829048,0,0,0,912,0,0,0,21264,0,0,0,29354,0,0 -17-43079373-T-A,17,43079373,rs879066235,T,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1462Tyr,p.Asn1462Tyr,c.4384A>T,missense_variant,,,,1,612888,0.0000016316194802312983,0,0,,,12.7,,0.110,0.00,0.244,,,0,17674,0,0,0,43732,0,0,0,20974,0,0,0,36056,0,0,0,38162,0,0,0,3634,0,0,0,349978,0,0,,,,,1,69744,0,0,0,32934,0,0 -17-43079374-G-T,17,43079374,rs2052894403,G,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1461Lys,p.Asn1461Lys,c.4383C>A,missense_variant,,,,2,1444934,0.0000013841462655041684,0,0,,,17.9,,0.210,0.00,0.303,,,1,33424,0,0,0,44704,0,0,0,26122,0,0,0,39678,0,0,0,38438,0,0,0,5254,0,0,1,1110922,0,0,,,,,0,86186,0,0,0,60206,0,0 -17-43079375-T-C,17,43079375,rs1395515080,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1461Ser,p.Asn1461Ser,c.4382A>G,missense_variant,,,,1,612922,0.0000016315289710599391,0,0,,,15.3,,0.0400,0.0300,0.244,,,0,17674,0,0,0,43730,0,0,0,20974,0,0,0,36054,0,0,0,38190,0,0,0,3644,0,0,0,349968,0,0,,,,,0,69750,0,0,1,32938,0,0 -17-43079377-C-A,17,43079377,rs1453544316,C,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Ser,p.Arg1460Ser,c.4380G>T,missense_variant,,,,2,1444970,0.000001384111780867423,0,0,amr,0.000007420000000000001,22.6,,0.320,0.00,0.305,,,0,33434,0,0,2,44708,0,0,0,26122,0,0,0,39680,0,0,0,38460,0,0,0,5256,0,0,0,1110922,0,0,,,,,0,86182,0,0,0,60206,0,0 -17-43079377-C-T,17,43079377,rs1453544316,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Arg,p.Arg1460Arg,c.4380G>A,synonymous_variant,,,,2,1444970,0.000001384111780867423,0,0,,,8.30,,0.180,0.00,0.305,,,1,33434,0,0,0,44708,0,0,0,26122,0,0,0,39680,0,0,0,38460,0,0,0,5256,0,0,1,1110922,0,0,,,,,0,86182,0,0,0,60206,0,0 -17-43079378-C-T,17,43079378,,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Lys,p.Arg1460Lys,c.4379G>A,missense_variant,,,,1,1445016,6.920338598326939e-7,0,0,,,15.0,,0.180,0.00,0.305,,,0,33428,0,0,0,44706,0,0,0,26122,0,0,0,39670,0,0,0,38484,0,0,0,5272,0,0,1,1110936,0,0,,,,,0,86194,0,0,0,60204,0,0 -17-43079381-T-C,17,43079381,rs2052895055,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Gln1459Arg,p.Gln1459Arg,c.4376A>G,missense_variant,,,,3,613004,0.000004893932176625275,0,0,eas,0.00000919,9.54,,0.280,0.390,0.244,,,0,17674,0,0,0,43734,0,0,0,20976,0,0,2,36056,0,0,0,38240,0,0,0,3678,0,0,0,349962,0,0,,,,,1,69752,0,0,0,32932,0,0 -17-43079382-G-A,17,43079382,rs2052895205,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Gln1459Ter,p.Gln1459Ter,c.4375C>T,stop_gained,,,,3,1596922,0.0000018786139836510487,0,0,nfe,2.8000000000000007e-7,36.0,,0.140,0.0100,0.303,,,0,74770,0,0,0,59972,0,0,0,29588,0,0,0,44866,0,0,0,49108,0,0,0,5624,0,0,2,1178786,0,0,0,912,0,0,1,91016,0,0,0,62280,0,0 -17-43079385-C-T,17,43079385,rs1173323937,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Gly1458Ser,p.Gly1458Ser,c.4372G>A,missense_variant,,,,10,1596664,0.000006263058476924387,0,0,nfe,0.0000035900000000000004,14.2,,0.240,0.00,0.305,,,1,74776,0,0,0,59956,0,0,0,29582,0,0,0,44864,0,0,0,49096,0,0,0,5640,0,0,9,1178546,0,0,0,912,0,0,0,91018,0,0,0,62274,0,0 -17-43079386-A-G,17,43079386,rs1567781500,A,G,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.His1457His,p.His1457His,c.4371T>C,synonymous_variant,,,,6,1444758,0.000004152944645400822,0,0,nfe,0.00000194,6.70,,0.00,0.160,0.244,,,0,33426,0,0,0,44702,0,0,0,26118,0,0,0,39674,0,0,0,38534,0,0,0,5344,0,0,6,1110590,0,0,,,,,0,86180,0,0,0,60190,0,0 -17-43079387-T-C,17,43079387,rs750825948,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.His1457Arg,p.His1457Arg,c.4370A>G,missense_variant,Uncertain significance,559971,,4,765166,0.000005227623809735404,0,0,nfe,0.0000019100000000000003,2.37,,0.00,0.250,-1.86,,,1,59100,0,0,0,58972,0,0,0,24442,0,0,0,41248,0,0,0,48888,0,0,0,4044,0,0,3,417974,0,0,0,912,0,0,0,74560,0,0,0,35026,0,0 -17-43079388-G-A,17,43079388,rs1162293753,G,A,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.His1457Tyr,p.His1457Tyr,c.4369C>T,missense_variant,,,,1,152172,0.000006571511184712037,0,0,,,1.33,,0.0900,0.00,-0.647,,,0,41434,0,0,0,15280,0,0,0,3468,0,0,1,5194,0,0,0,10616,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 -17-43079389-T-C,17,43079389,,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ile1456Met,p.Ile1456Met,c.4368A>G,missense_variant,,,,1,613092,0.0000016310765757830798,0,0,,,15.4,,0.0100,0.0600,0.244,,,0,17672,0,0,0,43724,0,0,0,20972,0,0,0,36054,0,0,0,38280,0,0,0,3736,0,0,1,349964,0,0,,,,,0,69750,0,0,0,32940,0,0 -17-43079395-C-T,17,43079395,rs761271538,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1454Ser,p.Ser1454Ser,c.4362G>A,synonymous_variant,,,,7,1595768,0.000004386602563781201,0,0,sas,0.0000036500000000000006,5.31,,0.240,0.00,-0.726,,,0,74736,0,0,0,59930,0,0,0,29566,0,0,0,44848,0,0,0,49154,0,0,0,5756,0,0,4,1177638,0,0,0,912,0,0,2,90984,0,0,1,62244,0,0 -17-43079396-G-A,17,43079396,rs2052896292,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1454Leu,p.Ser1454Leu,c.4361C>T,missense_variant,,,,6,1595346,0.0000037609396331579483,0,0,nfe,2.8000000000000007e-7,14.8,,0.190,0.00,0.303,,,1,74798,0,0,0,59946,0,0,0,29574,0,0,1,44856,0,0,0,49200,0,0,0,5778,0,0,2,1177082,0,0,0,912,0,0,1,90974,0,0,1,62226,0,0 -17-43079396-G-C,17,43079396,rs2052896292,G,C,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.Ser1454Trp,p.Ser1454Trp,c.4361C>G,missense_variant,,,,1,152084,0.000006575313642460746,0,0,,,17.8,,0.140,0.00,0.303,,,0,41414,0,0,0,15242,0,0,0,3470,0,0,0,5194,0,0,0,10596,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 -17-43079400-C-T,17,43079400,rs374435098,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,c.4358-1G>A,,c.4358-1G>A,splice_acceptor_variant,Likely pathogenic,162503,,6,1595750,0.0000037599874667084444,0,0,nfe,0.00000183,22.6,,0.380,0.0100,0.305,,,0,74774,0,0,0,59954,0,0,0,29568,0,0,0,44864,0,0,0,49218,0,0,0,5838,0,0,6,1177406,0,0,0,912,0,0,0,90976,0,0,0,62240,0,0 -17-43079401-T-A,17,43079401,,T,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,c.4358-2A>T,,c.4358-2A>T,splice_acceptor_variant,,,,1,1443534,6.927443343904612e-7,0,0,,,22.8,,0.380,0.0100,0.244,,,0,33376,0,0,0,44704,0,0,0,26104,0,0,0,39678,0,0,0,38638,0,0,1,5540,0,0,0,1109186,0,0,,,,,0,86152,0,0,0,60156,0,0 -17-43079402-G-GT,17,43079402,rs2052896802,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2789dup,,c.4358-2789dup,intron_variant,,,,1,152116,0.000006573930421520419,0,0,,,4.83,,0.250,0.0100,-0.811,,,1,41412,0,0,0,15258,0,0,0,3468,0,0,0,5192,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43079403-T-C,17,43079403,rs753888336,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,c.4358-4A>G,,c.4358-4A>G,splice_region_variant,Uncertain significance,1315515,,90,1595228,0.000056418267482767355,0,0,sas,0.000804,3.84,,0.00,0.160,-0.804,,,0,74870,0,0,0,59972,0,0,0,29566,0,0,0,44834,0,0,0,49240,0,0,0,5834,0,0,0,1176816,0,0,0,912,0,0,88,90934,0,0,2,62250,0,0 -17-43079406-G-A,17,43079406,,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,c.4358-7C>T,,c.4358-7C>T,splice_region_variant,,,,2,1442132,0.0000013868356017340992,0,0,,,5.13,,0.0500,0.0200,0.303,,,1,33350,0,0,0,44702,0,0,0,26094,0,0,0,39670,0,0,0,38662,0,0,0,5580,0,0,1,1107824,0,0,,,,,0,86112,0,0,0,60138,0,0 -17-43079410-G-A,17,43079410,rs560287183,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2796C>T,,c.4358-2796C>T,intron_variant,,,,21,1592816,0.000013184197044730841,0,0,nfe,0.00001035,5.59,,0.00,0.300,0.303,,,0,74724,0,0,0,59962,0,0,0,29554,0,0,0,44858,0,0,1,49264,0,0,0,5916,0,0,19,1174550,0,0,0,912,0,0,0,90914,0,0,1,62162,0,0 -17-43079410-G-C,17,43079410,rs560287183,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2796C>G,,c.4358-2796C>G,intron_variant,,,,4,1592934,0.0000025110895994435425,0,0,nfe,6.800000000000001e-7,5.28,,0.0700,0.0300,0.303,,,0,74846,0,0,1,59982,0,0,0,29554,0,0,0,44846,0,0,0,49264,0,0,0,5894,0,0,3,1174542,0,0,0,912,0,0,0,90910,0,0,0,62184,0,0 -17-43079412-T-C,17,43079412,rs1237734526,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2798A>G,,c.4358-2798A>G,intron_variant,,,,2,1591186,0.000001256924080528612,0,0,,,5.81,,0.00,0.100,0.244,,,2,74598,0,0,0,59942,0,0,0,29554,0,0,0,44836,0,0,0,49264,0,0,0,5926,0,0,0,1173160,0,0,0,910,0,0,0,90872,0,0,0,62124,0,0 -17-43079417-T-C,17,43079417,rs201290746,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2803A>G,,c.4358-2803A>G,intron_variant,,,,103,1583512,0.00006504529173129095,0,0,nfe,0.00007107,6.78,,0.300,0.0200,0.244,,,2,74492,0,0,0,59912,0,0,0,29506,0,0,0,44790,0,0,0,49288,0,0,0,5942,0,0,99,1166090,0,0,0,908,0,0,0,90712,0,0,2,61872,0,0 -17-43079420-T-C,17,43079420,rs1440290880,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2806A>G,,c.4358-2806A>G,intron_variant,,,,1,152112,0.000006574103292310929,0,0,,,5.50,,0.00,0.0400,-0.808,,,1,41410,0,0,0,15256,0,0,0,3468,0,0,0,5194,0,0,0,10606,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43079421-A-G,17,43079421,rs2154108109,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2807T>C,,c.4358-2807T>C,intron_variant,,,,1,1423254,7.026152745750231e-7,0,0,,,6.78,,0.0700,0.0500,0.244,,,0,32926,0,0,0,44662,0,0,0,25988,0,0,0,39564,0,0,0,38704,0,0,0,5634,0,0,1,1090596,0,0,,,,,0,85686,0,0,0,59494,0,0 -17-43079426-T-C,17,43079426,rs758063472,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2812A>G,,c.4358-2812A>G,intron_variant,,,,1,152064,0.000006576178451178451,0,0,,,8.69,,0.270,0.00,0.244,,,0,41390,0,0,0,15262,0,0,0,3470,0,0,0,5186,0,0,0,10600,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43079428-A-G,17,43079428,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2814T>C,,c.4358-2814T>C,intron_variant,,,,1,613692,0.0000016294818899382752,0,0,,,7.99,,0.190,0.0300,0.244,,,0,17688,0,0,0,43730,0,0,0,20960,0,0,0,36056,0,0,0,38482,0,0,0,4066,0,0,1,349966,0,0,,,,,0,69758,0,0,0,32986,0,0 -17-43079430-G-A,17,43079430,rs777655282,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2816C>T,,c.4358-2816C>T,intron_variant,,,,1,1399946,7.143132663688456e-7,0,0,,,7.76,,0.00,0.0300,0.303,,,1,32412,0,0,0,44640,0,0,0,25834,0,0,0,39436,0,0,0,38754,0,0,0,5620,0,0,0,1069304,0,0,,,,,0,85254,0,0,0,58692,0,0 -17-43079430-G-C,17,43079430,rs777655282,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2816C>G,,c.4358-2816C>G,intron_variant,,,,1,1399946,7.143132663688456e-7,0,0,,,7.41,,0.00,0.0900,0.303,,,0,32412,0,0,0,44640,0,0,0,25834,0,0,0,39436,0,0,0,38754,0,0,0,5620,0,0,0,1069304,0,0,,,,,1,85254,0,0,0,58692,0,0 -17-43079431-G-A,17,43079431,rs1005470644,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2817C>T,,c.4358-2817C>T,intron_variant,,,,3,1550852,0.00000193442056366436,0,0,,,7.49,,0.00,0.0200,0.303,,,0,73806,0,0,0,59890,0,0,0,29300,0,0,0,44626,0,0,0,49348,0,0,0,5930,0,0,2,1136214,0,0,0,912,0,0,1,90056,0,0,0,60770,0,0 -17-43079432-G-C,17,43079432,rs1256065626,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2818C>G,,c.4358-2818C>G,intron_variant,,,,1,1393422,7.176576801571957e-7,0,0,,,7.39,,0.00,0.100,0.303,,,0,32266,0,0,0,44634,0,0,0,25800,0,0,1,39416,0,0,0,38752,0,0,0,5600,0,0,0,1063344,0,0,,,,,0,85116,0,0,0,58494,0,0 -17-43079432-G-A,17,43079432,rs1256065626,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2818C>T,,c.4358-2818C>T,intron_variant,,,,2,1545534,0.0000012940511176072477,0,0,,,7.75,,0.00,0.110,0.303,,,0,73698,0,0,0,59894,0,0,0,29268,0,0,0,44602,0,0,0,49362,0,0,0,5916,0,0,2,1131358,0,0,0,910,0,0,0,89940,0,0,0,60586,0,0 -17-43079434-A-G,17,43079434,rs1282888483,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2820T>C,,c.4358-2820T>C,intron_variant,,,,1,613712,0.0000016294287874442736,0,0,,,8.91,,0.00,0.0100,0.244,,,0,17684,0,0,1,43720,0,0,0,20968,0,0,0,36058,0,0,0,38496,0,0,0,4080,0,0,0,349966,0,0,,,,,0,69760,0,0,0,32980,0,0 -17-43079435-C-T,17,43079435,rs746872895,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2821G>A,,c.4358-2821G>A,intron_variant,,,,29,1538500,0.000018849528761780954,0,0,amr,0.000022590000000000006,4.59,,0.0300,0.00,-1.85,,,1,73526,0,0,4,59856,0,0,0,29242,0,0,2,44584,0,0,0,49334,0,0,0,5902,0,0,20,1125086,0,0,0,912,0,0,1,89786,0,0,1,60272,0,0 -17-43079436-G-A,17,43079436,rs1215533327,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2822C>T,,c.4358-2822C>T,intron_variant,,,,13,1383856,0.000009394040998485392,0,0,nfe,0.00000479,7.66,,0.00,0.0200,0.303,,,0,32078,0,0,1,44602,0,0,1,25754,0,0,0,39372,0,0,0,38758,0,0,0,5562,0,0,10,1054680,0,0,,,,,0,84932,0,0,1,58118,0,0 -17-43079441-C-T,17,43079441,rs2154108794,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2827G>A,,c.4358-2827G>A,intron_variant,,,,2,1375150,0.000001454386794167909,0,0,,,10.7,,0.00,0.0300,0.305,,,0,31900,0,0,0,44602,0,0,0,25706,0,0,0,39352,0,0,0,38808,0,0,0,5580,0,0,1,1046638,0,0,,,,,0,84804,0,0,1,57760,0,0 -17-43079443-G-A,17,43079443,rs781317624,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2829C>T,,c.4358-2829C>T,intron_variant,,,,4,1508658,0.000002651362999433934,0,0,sas,0.00001446,10.8,,0.00,0.0200,0.303,,,0,72906,0,0,0,59838,0,0,0,29052,0,0,0,44468,0,0,0,49428,0,0,0,5852,0,0,0,1097696,0,0,0,912,0,0,4,89294,0,0,0,59212,0,0 -17-43079443-G-C,17,43079443,rs781317624,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2829C>G,,c.4358-2829C>G,intron_variant,,,,1,1356522,7.371793454142285e-7,0,0,,,10.2,,0.00,0.0300,0.303,,,0,31482,0,0,0,44580,0,0,0,25582,0,0,0,39272,0,0,0,38814,0,0,0,5536,0,0,1,1029670,0,0,,,,,0,84460,0,0,0,57126,0,0 -17-43079444-T-C,17,43079444,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2830A>G,,c.4358-2830A>G,intron_variant,,,,1,613768,0.0000016292801188722774,0,0,,,13.2,,0.0400,0.0100,0.244,,,0,17676,0,0,0,43714,0,0,0,20970,0,0,0,36058,0,0,0,38570,0,0,0,4084,0,0,1,349954,0,0,,,,,0,69764,0,0,0,32978,0,0 -17-43079449-A-C,17,43079449,rs1467914773,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2835T>G,,c.4358-2835T>G,intron_variant,,,,1,613830,0.0000016291155531661862,0,0,,,13.0,,0.00,0.0600,0.244,,,0,17676,0,0,1,43722,0,0,0,20968,0,0,0,36060,0,0,0,38598,0,0,0,4100,0,0,0,349962,0,0,,,,,0,69762,0,0,0,32982,0,0 -17-43079451-A-T,17,43079451,rs1336444388,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2837T>A,,c.4358-2837T>A,intron_variant,,,,2,152228,0.000013138187455658618,0,0,afr,0.00000799,13.5,,0.00,0.0200,0.237,,,2,41460,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10626,0,0,0,316,0,0,0,68038,0,0,0,910,0,0,0,4838,0,0,0,2094,0,0 -17-43079451-A-C,17,43079451,rs1336444388,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2837T>G,,c.4358-2837T>G,intron_variant,,,,11,1479976,0.000007432552960318275,0,0,nfe,0.00000472,13.6,,0.00,0.0400,0.237,,,0,72378,0,0,0,59812,0,0,0,28850,0,0,1,44302,0,0,0,49484,0,0,0,5834,0,0,10,1071312,0,0,0,910,0,0,0,88774,0,0,0,58320,0,0 -17-43079451-A-G,17,43079451,rs1336444388,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2837T>C,,c.4358-2837T>C,intron_variant,,,,1,1327748,7.531549661532158e-7,0,0,,,14.1,,0.00,0.00,0.237,,,0,30918,0,0,0,44532,0,0,0,25380,0,0,0,39106,0,0,0,38858,0,0,0,5518,0,0,1,1003274,0,0,,,,,0,83936,0,0,0,56226,0,0 -17-43079452-G-C,17,43079452,rs927901466,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2838C>G,,c.4358-2838C>G,intron_variant,,,,10,1477144,0.000006769820680989802,0,0,amr,0.00004295999999999998,12.9,,0.00,0.0400,0.294,,,0,72284,0,0,6,59796,0,0,0,28828,0,0,0,44274,0,0,1,49466,0,0,1,5826,0,0,1,1068884,0,0,0,912,0,0,0,88710,0,0,1,58164,0,0 -17-43079454-A-G,17,43079454,rs960628962,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2840T>C,,c.4358-2840T>C,intron_variant,,,,6,1466630,0.000004091011366193246,0,0,amr,0.00001332,13.8,,0.00,0.00,0.237,,,0,72130,0,0,3,59784,0,0,0,28794,0,0,0,44232,0,0,0,49478,0,0,0,5790,0,0,3,1059198,0,0,0,912,0,0,0,88468,0,0,0,57844,0,0 -17-43079455-AT-A,17,43079455,rs2052900405,AT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2842del,,c.4358-2842del,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,10.9,,0.00,0.0300,0.244,,,0,41460,0,0,0,15268,0,0,0,3472,0,0,0,5200,0,0,1,10620,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43079458-C-A,17,43079458,rs541449811,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2844G>T,,c.4358-2844G>T,intron_variant,,,,23,1452526,0.000015834484202003956,0,0,nfe,0.00001463,12.9,,0.00,0.0200,0.305,,,0,71844,0,0,0,59752,0,0,0,28684,0,0,0,44166,0,0,0,49412,0,0,0,5770,0,0,23,1046508,0,0,0,912,0,0,0,88154,0,0,0,57324,0,0 -17-43079459-C-T,17,43079459,rs2154109326,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2845G>A,,c.4358-2845G>A,intron_variant,,,,4,1295800,0.000003086896125945362,0,0,sas,0.00000957,13.3,,0.00,0.0300,0.305,,,0,30348,0,0,0,44492,0,0,0,25196,0,0,0,38942,0,0,0,38862,0,0,0,5450,0,0,0,974080,0,0,,,,,3,83292,0,0,1,55138,0,0 -17-43079461-C-T,17,43079461,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2847G>A,,c.4358-2847G>A,intron_variant,,,,2,1290408,0.0000015498973967923323,0,0,,,13.3,,0.00,0.0300,0.305,,,0,30200,0,0,0,44488,0,0,0,25194,0,0,0,38934,0,0,2,38868,0,0,0,5428,0,0,0,969214,0,0,,,,,0,83150,0,0,0,54932,0,0 -17-43079462-A-T,17,43079462,rs564288136,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2848T>A,,c.4358-2848T>A,intron_variant,,,,22,1431738,0.000015365939857711398,0,0,nfe,0.00001402,14.2,,0.00,0.0200,0.244,,,0,71434,0,0,0,59752,0,0,0,28582,0,0,0,44104,0,0,0,49502,0,0,0,5696,0,0,22,1027318,0,0,0,912,0,0,0,87760,0,0,0,56678,0,0 -17-43079462-A-G,17,43079462,rs564288136,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2848T>C,,c.4358-2848T>C,intron_variant,,,,1,152202,0.000006570215897294385,0,0,,,14.5,,0.00,0.0400,0.244,,,0,41456,0,0,0,15278,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43079464-A-C,17,43079464,rs1168912385,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2850T>G,,c.4358-2850T>G,intron_variant,,,,6,1267632,0.000004733234882047787,0,0,nfe,0.00000212,14.2,,0.00,0.0100,0.244,,,0,29706,0,0,0,44462,0,0,0,25054,0,0,0,38842,0,0,0,38878,0,0,0,5370,0,0,6,948460,0,0,,,,,0,82666,0,0,0,54194,0,0 -17-43079465-A-G,17,43079465,rs2052901156,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2851T>C,,c.4358-2851T>C,intron_variant,,,,3,1272200,0.0000023581197924854584,0,0,nfe,8.4e-7,14.3,,0.00,0.0900,0.244,,,0,29792,0,0,0,44464,0,0,0,25086,0,0,0,38848,0,0,0,38918,0,0,0,5384,0,0,3,952592,0,0,,,,,0,82786,0,0,0,54330,0,0 -17-43079466-G-A,17,43079466,rs1409856549,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2852C>T,,c.4358-2852C>T,intron_variant,,,,2,152304,0.000013131631473894317,0,0,eas,0.00000754,12.9,,0.00,0.0200,0.303,,,0,41562,0,0,0,15290,0,0,0,3472,0,0,2,5186,0,0,0,10616,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4830,0,0,0,2110,0,0 -17-43079470-T-C,17,43079470,rs1413913141,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2856A>G,,c.4358-2856A>G,intron_variant,,,,1,152156,0.0000065722022135177055,0,0,,,14.5,,0.00,0.0100,0.244,,,0,41444,0,0,0,15276,0,0,0,3470,0,0,1,5190,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,910,0,0,0,4830,0,0,0,2086,0,0 -17-43079472-C-A,17,43079472,rs186914333,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2858G>T,,c.4358-2858G>T,intron_variant,Likely benign,223566,,1144,1395640,0.0008196956235132269,0,0,nfe,0.00099403,12.4,,0.00,0.0100,0.305,,,13,70616,0,0,3,59684,0,0,0,28372,0,0,0,43916,0,0,44,49534,0,0,0,5658,0,0,1041,994288,0,0,0,910,0,0,0,87068,0,0,43,55594,0,0 -17-43079473-C-T,17,43079473,rs191331108,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2859G>A,,c.4358-2859G>A,intron_variant,Likely benign,223565,,1137,1383122,0.0008220532968169113,0,0,nfe,0.0009984,13.6,,0.00,0.0100,0.305,,,13,70362,0,0,3,59670,0,0,0,28292,0,0,0,43874,0,0,44,49518,0,0,0,5616,0,0,1034,982948,0,0,0,906,0,0,0,86824,0,0,43,55112,0,0 -17-43082330-T-C,17,43082330,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+74A>G,,c.4357+74A>G,intron_variant,,,,1,743542,0.0000013449139389570462,0,0,,,0.637,,0.00,0.0100,0.0210,,,0,13788,0,0,0,868,0,0,0,4646,0,0,0,3200,0,0,0,246,0,0,0,1460,0,0,1,680438,0,0,,,,,0,14564,0,0,0,24332,0,0 -17-43082331-A-C,17,43082331,rs2053034107,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+73T>G,,c.4357+73T>G,intron_variant,,,,1,152164,0.000006571856680949502,0,0,,,4.88,,0.00,0.0100,-0.0180,,,1,41434,0,0,0,15266,0,0,0,3468,0,0,0,5196,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43082337-CAGA-C,17,43082337,rs1188139423,CAGA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+64_4357+66del,,c.4357+64_4357+66del,intron_variant,,,,2,760510,0.0000026298142036265136,0,0,,,8.75,,0.00,0.00,1.45,,,1,58632,0,0,0,57596,0,0,0,23310,0,0,0,41028,0,0,0,61564,0,0,0,4358,0,0,0,406896,0,0,0,910,0,0,1,71918,0,0,0,34298,0,0 -17-43082340-A-G,17,43082340,rs577478710,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+64T>C,,c.4357+64T>C,intron_variant,,,,9,1532172,0.00000587401414462606,0,0,nfe,0.0000031,12.9,,0.00,0.00,0.271,,,0,73132,0,0,0,58740,0,0,0,28334,0,0,1,44340,0,0,0,62326,0,0,0,5852,0,0,8,1111378,0,0,0,912,0,0,0,87616,0,0,0,59542,0,0 -17-43082343-G-C,17,43082343,rs2154142714,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+61C>G,,c.4357+61C>G,intron_variant,,,,1,1386824,7.210720322117298e-7,0,0,,,13.6,,0.00,0.00,2.75,,,0,31772,0,0,0,43740,0,0,0,25050,0,0,0,39192,0,0,0,51950,0,0,0,5582,0,0,1,1048498,0,0,,,,,0,83330,0,0,0,57710,0,0 -17-43082345-G-T,17,43082345,rs2053034554,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+59C>A,,c.4357+59C>A,intron_variant,,,,17,1554258,0.00001093769502875327,0,0,nfe,0.00000719,5.91,,0.00,0.00,0.155,,,0,73638,0,0,0,59298,0,0,0,28756,0,0,0,44444,0,0,0,62776,0,0,0,5946,0,0,14,1129402,0,0,0,912,0,0,0,88702,0,0,3,60384,0,0 -17-43082346-A-C,17,43082346,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+58T>G,,c.4357+58T>G,intron_variant,,,,1,789786,0.0000012661657714874663,0,0,,,8.89,,0.00,0.0300,0.0530,,,0,14852,0,0,0,938,0,0,0,4924,0,0,0,3382,0,0,0,270,0,0,0,1540,0,0,1,722500,0,0,,,,,0,15540,0,0,0,25840,0,0 -17-43082347-T-C,17,43082347,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+57A>G,,c.4357+57A>G,intron_variant,,,,1,1409220,7.096124097018209e-7,0,0,,,10.2,,0.00,0.00,-1.48,,,0,32312,0,0,0,44002,0,0,0,25338,0,0,0,39286,0,0,0,52356,0,0,0,5634,0,0,1,1067604,0,0,,,,,0,84220,0,0,0,58468,0,0 -17-43082348-A-G,17,43082348,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+56T>C,,c.4357+56T>C,intron_variant,,,,1,617742,0.0000016187987865484296,0,0,,,13.5,,0.00,0.00,0.598,,,0,17422,0,0,0,43050,0,0,0,20474,0,0,0,35894,0,0,0,52164,0,0,0,4100,0,0,1,343336,0,0,,,,,0,68720,0,0,0,32582,0,0 -17-43082350-A-AGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTT,17,43082350,,A,AGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+17_4357+53dup,,c.4357+17_4357+53dup,intron_variant,,,,1,1417296,7.055689143270001e-7,0,0,,,4.20,,0.00,0.0100,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,1,1074294,0,0,,,,,0,84682,0,0,0,58740,0,0 -17-43082350-A-G,17,43082350,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+54T>C,,c.4357+54T>C,intron_variant,,,,1,1417296,7.055689143270001e-7,0,0,,,9.28,,0.00,0.00,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,0,1074294,0,0,,,,,1,84682,0,0,0,58740,0,0 -17-43082350-A-C,17,43082350,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+54T>G,,c.4357+54T>G,intron_variant,,,,2,1417296,0.0000014111378286540002,0,0,nfe,3.1e-7,9.24,,0.00,0.00,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,2,1074294,0,0,,,,,0,84682,0,0,0,58740,0,0 -17-43082351-G-A,17,43082351,rs2154142859,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+53C>T,,c.4357+53C>T,intron_variant,,,,1,619550,0.000001614074731660076,0,0,,,6.22,,0.00,0.00,-0.378,,,0,17484,0,0,0,43258,0,0,0,20584,0,0,1,35902,0,0,0,52340,0,0,0,4108,0,0,0,344198,0,0,,,,,0,69006,0,0,0,32670,0,0 -17-43082352-G-A,17,43082352,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+52C>T,,c.4357+52C>T,intron_variant,,,,3,1422294,0.0000021092685478529755,0,0,sas,0.00000391,12.2,,0.00,0.00,0.964,,,1,32582,0,0,0,44200,0,0,0,25582,0,0,0,39352,0,0,0,52642,0,0,0,5670,0,0,0,1078410,0,0,,,,,2,84882,0,0,0,58974,0,0 -17-43082352-G-C,17,43082352,rs1597847449,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+52C>G,,c.4357+52C>G,intron_variant,,,,2,1422294,0.0000014061790319019836,0,0,eas,0.00000842,11.8,,0.00,-0.0100,0.964,,,0,32582,0,0,0,44200,0,0,0,25582,0,0,2,39352,0,0,0,52642,0,0,0,5670,0,0,0,1078410,0,0,,,,,0,84882,0,0,0,58974,0,0 -17-43082355-A-T,17,43082355,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+49T>A,,c.4357+49T>A,intron_variant,,,,1,1430092,6.992557122199131e-7,0,0,,,3.02,,0.00,0.00,0.552,,,1,32732,0,0,0,44198,0,0,0,25654,0,0,0,39398,0,0,0,52844,0,0,0,5694,0,0,0,1085196,0,0,,,,,0,85192,0,0,0,59184,0,0 -17-43082357-G-T,17,43082357,rs2154143009,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+47C>A,,c.4357+47C>A,intron_variant,,,,2,1434758,0.0000013939633025220978,0,0,,,2.99,,0.00,0.00,0.386,,,0,32826,0,0,0,44256,0,0,0,25720,0,0,0,39450,0,0,0,52942,0,0,0,5694,0,0,1,1089116,0,0,,,,,0,85358,0,0,1,59396,0,0 -17-43082358-G-T,17,43082358,rs1387217617,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+46C>A,,c.4357+46C>A,intron_variant,,,,2,1588742,0.0000012588576370486837,0,0,,,3.02,,0.00,0.00,1.54,,,0,74328,0,0,0,59568,0,0,0,29246,0,0,0,44652,0,0,0,63596,0,0,2,6010,0,0,0,1158604,0,0,0,912,0,0,0,90286,0,0,0,61540,0,0 -17-43082358-G-C,17,43082358,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+46C>G,,c.4357+46C>G,intron_variant,,,,2,1436558,0.0000013922166734653248,0,0,sas,0.00000389,3.21,,0.00,0.00,1.54,,,0,32880,0,0,0,44298,0,0,0,25774,0,0,0,39458,0,0,0,52984,0,0,0,5694,0,0,0,1090570,0,0,,,,,2,85452,0,0,0,59448,0,0 -17-43082358-G-A,17,43082358,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+46C>T,,c.4357+46C>T,intron_variant,,,,1,1436558,6.961083367326624e-7,0,0,,,3.48,,0.00,0.00,1.54,,,0,32880,0,0,0,44298,0,0,0,25774,0,0,0,39458,0,0,0,52984,0,0,0,5694,0,0,1,1090570,0,0,,,,,0,85452,0,0,0,59448,0,0 -17-43082359-A-G,17,43082359,rs1597847459,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+45T>C,,c.4357+45T>C,intron_variant,,,,5,622142,0.00000803675045246905,0,0,eas,0.00003793999999999998,8.47,,0.00,0.00,1.10,,,0,17500,0,0,0,43326,0,0,0,20750,0,0,4,35926,0,0,0,52822,0,0,0,4116,0,0,1,345490,0,0,,,,,0,69432,0,0,0,32780,0,0 -17-43082362-G-C,17,43082362,rs745366396,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+42C>G,,c.4357+42C>G,intron_variant,,,,1,1444938,6.920712168965035e-7,0,0,,,4.29,,0.00,0.00,0.370,,,0,33058,0,0,0,44298,0,0,0,25870,0,0,0,39510,0,0,0,53138,0,0,0,5706,0,0,1,1097910,0,0,,,,,0,85714,0,0,0,59734,0,0 -17-43082362-G-T,17,43082362,rs745366396,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+42C>A,,c.4357+42C>A,intron_variant,,,,49,1444936,0.00003391153656632543,0,0,nfe,0.00003124,4.13,,0.00,0.00,0.370,,,1,33058,0,0,0,44300,0,0,0,25870,0,0,0,39510,0,0,0,53138,0,0,0,5706,0,0,45,1097906,0,0,,,,,1,85714,0,0,2,59734,0,0 -17-43082367-T-C,17,43082367,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+37A>G,,c.4357+37A>G,intron_variant,,,,1,1449266,6.90004457428795e-7,0,0,,,7.53,,0.00,0.00,-0.137,,,0,33144,0,0,0,44312,0,0,0,25916,0,0,0,39536,0,0,0,53244,0,0,0,5722,0,0,1,1101666,0,0,,,,,0,85854,0,0,0,59872,0,0 -17-43082371-T-G,17,43082371,rs2053035473,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+33A>C,,c.4357+33A>C,intron_variant,,,,1,830584,0.0000012039721449004555,0,0,,,7.17,,0.00,0.00,0.494,,,0,15730,0,0,0,978,0,0,0,5136,0,0,1,3612,0,0,0,276,0,0,0,1616,0,0,0,759636,0,0,,,,,0,16398,0,0,0,27202,0,0 -17-43082373-A-G,17,43082373,rs769483972,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+31T>C,,c.4357+31T>C,intron_variant,,,,1,624088,0.0000016023381318019253,0,0,,,5.21,,0.00,-0.0100,0.779,,,0,17532,0,0,0,43368,0,0,0,20842,0,0,0,35964,0,0,0,53032,0,0,0,4122,0,0,1,346726,0,0,,,,,0,69610,0,0,0,32892,0,0 -17-43082375-G-C,17,43082375,rs2053035731,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+29C>G,,c.4357+29C>G,intron_variant,,,,1,152220,0.000006569438969911969,0,0,,,1.28,,0.00,0.00,0.367,,,1,41452,0,0,0,15276,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,0,68050,0,0,0,912,0,0,0,4836,0,0,0,2088,0,0 -17-43082375-G-A,17,43082375,rs2053035731,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+29C>T,,c.4357+29C>T,intron_variant,,,,2,831496,0.0000024053032125229707,0,0,nfe,4.4e-7,1.49,,0.00,0.00,0.367,,,0,15748,0,0,0,980,0,0,0,5142,0,0,0,3618,0,0,0,276,0,0,0,1618,0,0,2,760456,0,0,,,,,0,16420,0,0,0,27238,0,0 -17-43082377-T-C,17,43082377,rs774944967,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+27A>G,,c.4357+27A>G,intron_variant,,,,2,625936,0.0000031952148462462615,0,0,amr,0.000007610000000000001,6.45,,0.00,0.00,-0.289,,,0,17616,0,0,2,43576,0,0,0,20920,0,0,0,36000,0,0,0,53086,0,0,0,4142,0,0,0,347924,0,0,,,,,0,69690,0,0,0,32982,0,0 -17-43082378-A-G,17,43082378,rs748971390,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+26T>C,,c.4357+26T>C,intron_variant,,,,1,625924,0.000001597638051904065,0,0,,,7.54,,0.00,0.00,-0.699,,,0,17612,0,0,0,43588,0,0,0,20906,0,0,0,35994,0,0,0,53088,0,0,0,4142,0,0,0,347924,0,0,,,,,1,69688,0,0,0,32982,0,0 -17-43082382-GTGTT-G,17,43082382,rs2053036508,GTGTT,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+18_4357+21del,,c.4357+18_4357+21del,intron_variant,Likely benign,1111403,,1,152182,0.0000065710793654965765,0,0,,,0.983,,0.00,0.00,0.325,,,1,41452,0,0,0,15270,0,0,0,3470,0,0,0,5192,0,0,0,10614,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43082382-G-A,17,43082382,rs1407411387,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+22C>T,,c.4357+22C>T,intron_variant,,,,5,626810,0.000007976898900783331,0,0,nfe,0.00000229,3.58,,0.00,0.00,0.325,,,0,17660,0,0,0,43664,0,0,0,20950,0,0,0,36008,0,0,0,53098,0,0,0,4144,0,0,3,348526,0,0,,,,,0,69742,0,0,2,33018,0,0 -17-43082382-G-C,17,43082382,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+22C>G,,c.4357+22C>G,intron_variant,,,,1,626810,0.0000015953797801566663,0,0,,,3.15,,0.00,0.00,0.325,,,0,17660,0,0,1,43664,0,0,0,20950,0,0,0,36008,0,0,0,53098,0,0,0,4144,0,0,0,348526,0,0,,,,,0,69742,0,0,0,33018,0,0 -17-43082385-T-G,17,43082385,rs772281432,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+19A>C,,c.4357+19A>C,intron_variant,Likely benign,240802,,7,1459516,0.000004796110491423184,0,0,nfe,0.0000026200000000000003,2.31,,0.00,0.00,-0.323,,,0,33442,0,0,0,44654,0,0,0,26098,0,0,0,39636,0,0,0,53386,0,0,0,5766,0,0,7,1110040,0,0,,,,,0,86186,0,0,0,60308,0,0 -17-43082387-T-C,17,43082387,rs80358180,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+17A>G,,c.4357+17A>G,intron_variant,Benign/Likely benign,125709,,94,1611840,0.00005831844351796704,3,0,eas,0.0003134000000000001,9.74,,0.00,0.00,0.486,,,0,74886,0,0,2,59928,0,0,0,29576,0,0,21,44830,1,0,0,64022,0,0,0,6076,0,0,3,1178196,0,0,0,912,0,0,0,91016,0,0,68,62398,2,0 -17-43082388-G-T,17,43082388,rs1060504577,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+16C>A,,c.4357+16C>A,intron_variant,Likely benign,462644,,2,626844,0.000003190586493609255,0,0,amr,0.000007590000000000001,4.51,,0.00,0.00,0.528,,,0,17656,0,0,2,43676,0,0,0,20952,0,0,0,36018,0,0,0,53104,0,0,0,4144,0,0,0,348544,0,0,,,,,0,69736,0,0,0,33014,0,0 -17-43082390-C-A,17,43082390,rs760989937,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+14G>T,,c.4357+14G>T,intron_variant,Conflicting interpretations of pathogenicity,415607,,18,1459552,0.000012332551358224989,0,0,nfe,0.00001013,1.35,,0.00,0.00,-0.713,,,0,33432,0,0,0,44640,0,0,0,26098,0,0,0,39642,0,0,0,53386,0,0,0,5764,0,0,18,1110120,0,0,,,,,0,86170,0,0,0,60300,0,0 -17-43082393-A-G,17,43082393,rs1320133860,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+11T>C,,c.4357+11T>C,intron_variant,,,,1,152200,0.00000657030223390276,0,0,,,1.01,,0.00,0.00,-3.24,,,1,41458,0,0,0,15268,0,0,0,3470,0,0,0,5192,0,0,0,10628,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 -17-43082396-A-T,17,43082396,rs2154143991,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+8T>A,,c.4357+8T>A,splice_region_variant,Likely benign,1547358,,1,833030,0.0000012004369590530953,0,0,,,0.786,,0.00,-0.0100,-0.452,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761832,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43082397-T-C,17,43082397,rs431825407,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+7A>G,,c.4357+7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,96931,,5,628000,0.000007961783439490445,0,0,eas,0.00002206,0.996,,0.0800,-0.0300,-0.480,,,0,17678,0,0,0,43714,0,0,0,20962,0,0,3,36036,0,0,0,53130,0,0,0,4148,0,0,2,349484,0,0,,,,,0,69776,0,0,0,33072,0,0 -17-43082398-A-G,17,43082398,rs80358143,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+6T>C,,c.4357+6T>C,intron_variant,Conflicting interpretations of pathogenicity,37585,,4,833032,0.000004801736307848918,0,0,nfe,0.0000012299999999999999,13.1,,0.0400,-0.0700,1.78,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,4,761832,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082400-A-G,17,43082400,rs1555583978,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+4T>C,,c.4357+4T>C,intron_variant,Likely benign,433711,,1,833066,0.000001200385083534798,0,0,,,2.08,,0.00,-0.0100,1.27,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761864,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43082403-C-T,17,43082403,rs80358027,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+1G>A,,c.4357+1G>A,splice_donor_variant,Pathogenic,37584,,3,780534,0.00000384352251151135,0,0,,,33.0,,0.990,-0.870,8.89,,,2,59242,0,0,0,58994,0,0,0,24436,0,0,0,41232,0,0,1,63754,0,0,0,4442,0,0,0,417746,0,0,0,912,0,0,0,74582,0,0,0,35194,0,0 -17-43082404-C-T,17,43082404,rs1555583984,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1453Thr,p.Ala1453Thr,c.4357G>A,missense_variant,Uncertain significance,1491600,,1,1461254,6.843437212147923e-7,0,0,,,27.0,0.112,0.270,-0.210,8.89,0.0600,0.0260,0,33470,0,0,0,44680,0,0,0,26120,0,0,1,39672,0,0,0,53412,0,0,0,5768,0,0,0,1111548,0,0,,,,,0,86212,0,0,0,60372,0,0 -17-43082405-T-A,17,43082405,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1452Asn,p.Lys1452Asn,c.4356A>T,missense_variant,,,,1,832952,0.000001200549371392349,0,0,,,25.4,0.260,0.0100,-0.0400,1.80,0.0700,0.0710,0,15782,0,0,0,982,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761770,0,0,,,,,0,16456,0,0,0,27288,0,0 -17-43082408-T-C,17,43082408,rs786202387,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Glu,p.Glu1451Glu,c.4353A>G,synonymous_variant,Likely benign,185700,,2,833066,0.000002400770167069596,0,0,sas,0.00002107,6.61,,0.00,0.00,0.461,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761866,0,0,,,,,2,16458,0,0,0,27298,0,0 -17-43082409-T-C,17,43082409,rs949793708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Gly,p.Glu1451Gly,c.4352A>G,missense_variant,Conflicting interpretations of pathogenicity,480987,,11,833076,0.00001320407741910702,0,0,nfe,0.00000775,10.6,0.173,0.00,0.00,0.0740,0.250,0.0570,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,11,761874,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082410-C-T,17,43082410,rs1555583989,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Lys,p.Glu1451Lys,c.4351G>A,missense_variant,Uncertain significance,482942,,2,1460792,0.0000013691203128166092,0,0,nfe,2.999999999999999e-7,18.6,0.222,0.00,0.00,4.08,0.140,0.0570,0,33406,0,0,0,44448,0,0,0,26094,0,0,0,39682,0,0,0,53410,0,0,0,5760,0,0,2,1111522,0,0,,,,,0,86130,0,0,0,60340,0,0 -17-43082412-G-C,17,43082412,rs886040226,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1450Ter,p.Ser1450Ter,c.4349C>G,stop_gained,Pathogenic,266471,lof_flag,1,1461258,6.843418479146051e-7,0,0,,,37.0,,0.0100,-0.0500,4.74,,,0,33438,0,0,0,44538,0,0,0,26106,0,0,0,39688,0,0,0,53412,0,0,0,5764,0,0,1,1111770,0,0,,,,,0,86176,0,0,0,60366,0,0 -17-43082414-T-G,17,43082414,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1449Thr,p.Thr1449Thr,c.4347A>C,synonymous_variant,,,,1,1461690,6.841395918423195e-7,0,0,,,5.31,,0.00,0.00,-2.16,,,0,33470,0,0,0,44692,0,0,0,26126,0,0,0,39690,0,0,0,53412,0,0,0,5768,0,0,1,1111900,0,0,,,,,0,86244,0,0,0,60388,0,0 -17-43082414-T-C,17,43082414,rs80356840,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1449Thr,p.Thr1449Thr,c.4347A>G,synonymous_variant,Likely benign,55176,,172,1614020,0.00010656621355373539,1,0,eas,0.003260920000000002,5.66,,0.00,0.00,-2.16,,,0,75062,0,0,0,59986,0,0,0,29596,0,0,167,44866,1,0,0,64036,0,0,0,6062,0,0,0,1179926,0,0,0,912,0,0,3,91072,0,0,2,62502,0,0 -17-43082417-G-A,17,43082417,rs1250691798,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1448Ser,p.Ser1448Ser,c.4344C>T,synonymous_variant,Conflicting interpretations of pathogenicity,479268,,1,152156,0.0000065722022135177055,0,0,,,6.90,,0.00,0.0100,1.20,,,0,41446,0,0,1,15268,0,0,0,3468,0,0,0,5194,0,0,0,10602,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 -17-43082418-C-T,17,43082418,rs80357354,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1448Asn,p.Ser1448Asn,c.4343G>A,missense_variant,Conflicting interpretations of pathogenicity,125707,,1,1461584,6.841892084204535e-7,0,0,,,2.04,0.314,0.00,0.00,-0.0730,1.00,0.00100,0,33466,0,0,0,44642,0,0,0,26122,0,0,0,39690,0,0,0,53416,0,0,0,5766,0,0,1,1111904,0,0,,,,,0,86200,0,0,0,60378,0,0 -17-43082419-T-C,17,43082419,rs80357486,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1448Gly,p.Ser1448Gly,c.4342A>G,missense_variant,Conflicting interpretations of pathogenicity,55174,,16,1613976,0.000009913406395138465,0,0,nfe,0.00000763,17.7,0.211,0.00,0.00,0.824,0.340,0.0380,0,74928,0,0,0,59978,0,0,0,29604,0,0,0,44886,0,0,0,64038,0,0,0,6082,0,0,15,1179982,0,0,0,912,0,0,0,91086,0,0,1,62480,0,0 -17-43082422-G-T,17,43082422,rs80357067,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1447Lys,p.Gln1447Lys,c.4339C>A,missense_variant,Uncertain significance,182161,,3,780902,0.000003841711251860028,0,0,,,16.2,0.253,0.00,0.00,1.16,0.110,0.0240,0,59128,0,0,0,58996,0,0,0,24452,0,0,1,41256,0,0,0,63768,0,0,0,4464,0,0,2,418114,0,0,0,912,0,0,0,74628,0,0,0,35184,0,0 -17-43082423-T-C,17,43082423,rs1555584018,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Glu,p.Glu1446Glu,c.4338A>G,synonymous_variant,Likely benign,793789,,1,833108,0.0000012003245677631232,0,0,,,3.79,,0.00,0.00,0.325,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082424-T-A,17,43082424,rs1273755215,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Val,p.Glu1446Val,c.4337A>T,missense_variant,,,,1,1461840,6.840693919991244e-7,0,0,,,19.8,0.242,0.00,-0.0100,1.55,0.0300,0.0380,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,1,53418,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43082424-T-C,17,43082424,rs1273755215,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Gly,p.Glu1446Gly,c.4337A>G,missense_variant,Uncertain significance,491074,,1,1461840,6.840693919991244e-7,0,0,,,14.8,0.206,0.00,0.00,1.55,0.270,0.0710,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53418,0,0,1,5768,0,0,0,1111980,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43082426-T-G,17,43082426,rs1555584033,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1445Pro,p.Pro1445Pro,c.4335A>C,synonymous_variant,Likely benign,514061,,1,628736,0.000001590492671009772,0,0,,,0.319,,0.00,0.00,-2.20,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53142,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43082428-G-T,17,43082428,rs876660684,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1445Thr,p.Pro1445Thr,c.4333C>A,missense_variant,Uncertain significance,233854,,3,628744,0.0000047714173017953255,0,0,nfe,0.00000228,15.1,0.220,0.00,-0.0100,2.21,0.180,0.0340,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53140,0,0,0,4148,0,0,3,350084,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43082429-A-G,17,43082429,rs752824502,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1444Asn,p.Asn1444Asn,c.4332T>C,synonymous_variant,Likely benign,427343,,7,780876,0.000008964291385572102,0,0,amr,0.000055149999999999985,3.88,,0.00,0.00,1.82,,,0,59120,0,0,7,59012,0,0,0,24450,0,0,0,41254,0,0,0,63748,0,0,0,4464,0,0,0,418106,0,0,0,912,0,0,0,74626,0,0,0,35184,0,0 -17-43082432-T-C,17,43082432,rs2154146970,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1443Arg,p.Arg1443Arg,c.4329A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.05,,0.00,0.00,-0.986,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082433-C-T,17,43082433,rs4986849,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Gln,p.Arg1443Gln,c.4328G>A,missense_variant,Conflicting interpretations of pathogenicity,55169,,7,781006,0.000008962799261465341,0,0,afr,0.00001344,0.963,0.314,0.00,-0.0200,-0.433,0.230,0.00,3,59260,0,0,1,59028,0,0,0,24448,0,0,0,41242,0,0,1,63754,0,0,0,4442,0,0,2,418090,0,0,0,912,0,0,0,74620,0,0,0,35210,0,0 -17-43082434-G-A,17,43082434,rs41293455,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Ter,p.Arg1443Ter,c.4327C>T,stop_gained,Pathogenic,17675,lof_flag,20,1613954,0.00001239192690745833,0,0,amr,0.00001327,35.0,,0.0100,-0.0700,2.63,,,1,74910,0,0,3,59986,0,0,0,29604,0,0,0,44888,0,0,2,64008,0,0,0,6084,0,0,13,1179998,0,0,0,910,0,0,1,91080,0,0,0,62486,0,0 -17-43082434-G-C,17,43082434,rs41293455,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Gly,p.Arg1443Gly,c.4327C>G,missense_variant,Benign,17676,,65,1613954,0.000040273762449239567,0,0,nfe,0.00003666,16.7,0.291,0.00,-0.0100,2.63,0.270,0.0180,3,74910,0,0,5,59986,0,0,0,29604,0,0,0,44888,0,0,0,64008,0,0,0,6084,0,0,55,1179998,0,0,0,910,0,0,0,91080,0,0,2,62486,0,0 -17-43082441-C-T,17,43082441,rs2154148123,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1440Glu,p.Glu1440Glu,c.4320G>A,synonymous_variant,,,,1,628754,0.0000015904471383084641,0,0,,,2.68,,0.00,0.00,0.639,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,1,53144,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43082444-A-G,17,43082444,rs2154148532,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1439Leu,p.Leu1439Leu,c.4317T>C,synonymous_variant,Likely benign,1696295,,7,1461866,0.00000478840057843879,0,0,nfe,0.0000026200000000000003,0.109,,0.00,0.00,-4.54,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,7,1111992,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43082446-G-A,17,43082446,rs781260818,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1439Phe,p.Leu1439Phe,c.4315C>T,missense_variant,Conflicting interpretations of pathogenicity,216668,,7,1461870,0.0000047883874763145834,0,0,nfe,0.0000026200000000000003,9.44,0.252,0.00,0.00,1.10,0.0500,0.0620,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,7,1111998,0,0,,,,,0,86258,0,0,0,60392,0,0 -17-43082447-G-C,17,43082447,rs80356856,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1438Ala,p.Ala1438Ala,c.4314C>G,synonymous_variant,Likely benign,55166,,7,780846,0.000008964635792460998,0,0,nfe,0.00000696,1.75,,0.00,0.00,0.0520,,,0,59118,0,0,0,59008,0,0,0,24452,0,0,0,41262,0,0,0,63728,0,0,0,4464,0,0,7,418092,0,0,0,912,0,0,0,74620,0,0,0,35190,0,0 -17-43082453-A-G,17,43082453,rs1060915,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1436Ser,p.Ser1436Ser,c.4308T>C,synonymous_variant,Benign,125703,,539147,1613730,0.3340998804013063,92806,0,sas,0.4944675499999999,3.88,,0.00,0.00,0.148,,,13342,74998,1231,0,18975,59994,3034,0,10588,29600,1879,0,15905,44870,2872,0,25434,63978,5034,0,2225,6062,436,0,386180,1179746,63133,0,260,912,41,0,45382,91072,11623,0,20856,62498,3523,0 -17-43082454-G-A,17,43082454,rs755614810,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1436Phe,p.Ser1436Phe,c.4307C>T,missense_variant,Uncertain significance,1059740,,3,628770,0.000004771220000954244,0,0,sas,0.00001141,22.4,0.252,0.00,-0.0100,5.78,0.0100,0.143,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,3,69798,0,0,0,33098,0,0 -17-43082455-A-G,17,43082455,,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1436Pro,p.Ser1436Pro,c.4306T>C,missense_variant,,,,2,985282,0.0000020298757107102333,0,0,,,10.7,0.287,0.00,0.0100,0.517,0.280,0.129,0,57238,0,0,0,16258,0,0,0,8622,0,0,1,8820,0,0,0,10894,0,0,0,1936,0,0,1,829920,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 -17-43082457-T-C,17,43082457,rs876660809,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1435Gly,p.Asp1435Gly,c.4304A>G,missense_variant,Uncertain significance,234039,,3,628764,0.000004771265530469302,1,0,nfe,0.00000228,6.54,0.254,0.00,0.00,0.305,0.500,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,3,350096,1,0,,,,,0,69798,0,0,0,33096,0,0 -17-43082459-A-T,17,43082459,rs2154150591,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1434Arg,p.Ser1434Arg,c.4302T>A,missense_variant,,,,1,833094,0.0000012003447390090433,0,0,,,0.321,0.190,0.00,0.00,-3.83,0.220,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43082464-T-A,17,43082464,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1433Leu,p.Ile1433Leu,c.4297A>T,missense_variant,,,,1,833094,0.0000012003447390090433,0,0,,,0.0220,0.210,0.0100,0.0100,-5.77,0.280,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43082464-T-C,17,43082464,rs541512953,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1433Val,p.Ile1433Val,c.4297A>G,missense_variant,Conflicting interpretations of pathogenicity,186786,,6,985404,0.00000608887319312688,0,0,afr,0.00001388,0.00100,0.181,0.0700,0.110,-5.77,1.00,0.0100,3,57360,0,0,0,16270,0,0,0,8624,0,0,0,8808,0,0,0,10896,0,0,0,1914,0,0,3,829922,0,0,0,912,0,0,0,21286,0,0,0,29412,0,0 -17-43082467-T-C,17,43082467,rs80357157,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1432Val,p.Ile1432Val,c.4294A>G,missense_variant,Uncertain significance,1049902,,2,780978,0.0000025608916000194626,0,0,,,0.215,0.220,0.00,0.00,0.109,0.950,0.00,0,59146,0,0,0,59012,0,0,0,24450,0,0,0,41264,0,0,0,63766,0,0,0,4464,0,0,2,418140,0,0,0,912,0,0,0,74632,0,0,0,35192,0,0 -17-43082469-G-A,17,43082469,rs748839289,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1431Phe,p.Ser1431Phe,c.4292C>T,missense_variant,Uncertain significance,462643,,2,1461844,0.0000013681350404010277,0,0,,,22.4,0.229,0.00,0.00,0.403,0.00,0.271,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111968,0,0,,,,,1,86258,0,0,1,60394,0,0 -17-43082472-G-A,17,43082472,rs1597847973,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Leu,p.Pro1430Leu,c.4289C>T,missense_variant,Uncertain significance,950626,,5,628772,0.000007952008041070532,0,0,eas,0.00003782999999999998,16.0,0.150,0.00,0.0100,4.05,0.190,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,4,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,1,33098,0,0 -17-43082473-G-A,17,43082473,rs80357466,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Ser,p.Pro1430Ser,c.4288C>T,missense_variant,Conflicting interpretations of pathogenicity,55162,,1,1461848,6.840656484121468e-7,0,0,,,8.66,0.223,0.00,0.00,0.147,0.380,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43082473-G-C,17,43082473,rs80357466,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Ala,p.Pro1430Ala,c.4288C>G,missense_variant,Uncertain significance,531218,,3,1461848,0.0000020521969452364406,0,0,,,5.81,0.214,0.00,-0.0100,0.147,0.430,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,1,5768,0,0,0,1111972,0,0,,,,,1,86258,0,0,1,60396,0,0 -17-43082475-T-C,17,43082475,rs876659228,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1429Cys,p.Tyr1429Cys,c.4286A>G,missense_variant,Uncertain significance,231566,,3,1461856,0.0000020521857145984284,0,0,sas,0.00000385,17.2,0.308,0.00,0.00,4.13,0.0700,0.188,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,1,1111980,0,0,,,,,2,86258,0,0,0,60396,0,0 -17-43082480-G-A,17,43082480,rs1348911931,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1427Asn,p.Asn1427Asn,c.4281C>T,synonymous_variant,Likely benign,1530839,,3,1461852,0.0000020521913299020696,0,0,sas,0.00000385,2.57,,0.00,-0.0100,0.959,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111978,0,0,,,,,2,86254,0,0,0,60396,0,0 -17-43082488-G-A,17,43082488,rs768327850,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1425Ser,p.Pro1425Ser,c.4273C>T,missense_variant,Uncertain significance,252880,,5,628774,0.000007951982747378232,0,0,sas,0.000027920000000000004,14.5,0.231,0.00,0.00,-0.168,0.490,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,5,69798,0,0,0,33098,0,0 -17-43082489-C-T,17,43082489,rs398122684,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1424Gln,p.Gln1424Gln,c.4272G>A,synonymous_variant,Likely benign,427328,,1,152334,0.000006564522693554952,0,0,,,7.30,,0.00,0.00,0.982,,,0,41590,0,0,0,15290,0,0,0,3472,0,0,0,5190,0,0,0,10616,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,1,4828,0,0,0,2116,0,0 -17-43082490-T-G,17,43082490,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1424Pro,p.Gln1424Pro,c.4271A>C,missense_variant,,,,1,833072,0.0000012003764380509728,0,0,,,23.4,0.259,0.00,0.00,2.30,0.0900,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16456,0,0,0,27294,0,0 -17-43082493-C-T,17,43082493,rs876660129,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1423Asn,p.Ser1423Asn,c.4268G>A,missense_variant,Uncertain significance,946942,,1,1461840,6.840693919991244e-7,0,0,,,18.6,0.227,0.00,0.00,3.96,0.0600,0.105,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43082493-C-A,17,43082493,rs876660129,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1423Ile,p.Ser1423Ile,c.4268G>T,missense_variant,Uncertain significance,233009,,3,1461840,0.0000020522081759973734,0,0,nfe,2.999999999999999e-7,23.9,0.322,0.00,0.00,3.96,0.00,0.107,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86254,0,0,1,60392,0,0 -17-43082496-C-T,17,43082496,rs747364414,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1422Glu,p.Gly1422Glu,c.4265G>A,missense_variant,Uncertain significance,462642,,12,1613988,0.000007434999516725032,0,0,sas,0.0000036500000000000006,22.7,0.232,0.00,0.00,1.46,0.0300,0.0840,0,74904,0,0,0,59992,0,0,0,29606,0,0,0,44894,0,0,0,64022,0,0,0,6084,0,0,9,1180000,0,0,0,912,0,0,2,91086,0,0,1,62488,0,0 -17-43082498-A-T,17,43082498,rs1131692074,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1421Gln,p.His1421Gln,c.4263T>A,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,0.229,0.243,0.00,0.00,-8.86,0.200,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082499-T-C,17,43082499,rs80357079,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1421Arg,p.His1421Arg,c.4262A>G,missense_variant,Conflicting interpretations of pathogenicity,55157,,15,1614074,0.000009293254212632135,0,0,amr,0.00003233,22.8,0.236,0.00,0.00,2.96,0.0400,0.0240,0,74942,0,0,5,60002,0,0,0,29606,0,0,0,44894,0,0,0,64044,0,0,0,6084,0,0,9,1180010,0,0,0,912,0,0,0,91090,0,0,1,62490,0,0 -17-43082500-G-A,17,43082500,rs80357013,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1421Tyr,p.His1421Tyr,c.4261C>T,missense_variant,Conflicting interpretations of pathogenicity,55156,,26,1614024,0.000016108806312669453,0,0,amr,0.00007732999999999998,24.9,0.174,0.00,0.00,5.81,0.00,0.129,0,74934,0,0,9,59990,0,0,0,29604,0,0,0,44898,0,0,0,64026,0,0,0,6084,0,0,12,1180000,0,0,0,912,0,0,0,91086,0,0,5,62490,0,0 -17-43082503-G-C,17,43082503,rs80357305,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1420Glu,p.Gln1420Glu,c.4258C>G,missense_variant,Uncertain significance,230483,,2,833086,0.000002400712531479343,0,0,nfe,4.4e-7,20.5,0.171,0.00,0.0100,3.45,0.130,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761880,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082504-T-C,17,43082504,rs2154154906,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Glu,p.Glu1419Glu,c.4257A>G,synonymous_variant,Likely benign,1554722,,1,833106,0.0000012003274493281767,0,0,,,8.78,,0.00,0.00,0.741,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082506-C-G,17,43082506,rs80357309,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Gln,p.Glu1419Gln,c.4255G>C,missense_variant,Benign,55154,,6,1461862,0.000004104354583401169,0,0,nfe,0.00000194,24.4,0.234,0.00,-0.0100,7.08,0.00,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43082506-C-T,17,43082506,rs80357309,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Lys,p.Glu1419Lys,c.4255G>A,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,25.4,0.213,0.00,0.00,7.08,0.00,0.0380,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43082506-C-A,17,43082506,rs80357309,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Ter,p.Glu1419Ter,c.4255G>T,stop_gained,Pathogenic,266463,lof_flag,1,1461862,6.840590972335282e-7,0,0,,,37.0,,0.00,-0.0500,7.08,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43082507-T-C,17,43082507,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1418Leu,p.Leu1418Leu,c.4254A>G,synonymous_variant,,,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,5.95,,0.00,-0.0100,-0.934,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43082508-A-G,17,43082508,rs397509157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1418Ser,p.Leu1418Ser,c.4253T>C,missense_variant,Uncertain significance,246517,,1,628776,0.0000015903914907693677,0,0,,,27.9,0.241,0.00,-0.0100,6.33,0.00,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082510-C-T,17,43082510,rs777057839,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1417Val,p.Val1417Val,c.4251G>A,synonymous_variant,Likely benign,194081,,4,152194,0.00002628224502937041,0,0,afr,0.00003248,8.05,,0.00,0.00,0.753,,,4,41462,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68044,0,0,0,910,0,0,0,4824,0,0,0,2090,0,0 -17-43082515-C-T,17,43082515,rs370999077,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1416Thr,p.Ala1416Thr,c.4246G>A,missense_variant,Uncertain significance,491073,,13,1614054,0.000008054253451247604,0,0,nfe,0.00000542,26.9,0.201,0.00,-0.0200,8.90,0.00,0.104,0,74928,0,0,0,59986,0,0,0,29606,0,0,1,44900,0,0,0,64030,0,0,0,6084,0,0,12,1180036,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 -17-43082516-T-C,17,43082516,rs41293453,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1415Glu,p.Glu1415Glu,c.4245A>G,synonymous_variant,Likely benign,55151,,82,1614090,0.000050802619432621474,0,0,nfe,0.00005545,10.9,,0.00,-0.0100,0.627,,,2,74938,0,0,0,60002,0,0,0,29606,0,0,0,44894,0,0,0,64042,0,0,0,6084,0,0,80,1180032,0,0,0,912,0,0,0,91094,0,0,0,62486,0,0 -17-43082517-TC-T,17,43082517,rs80357981,TC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1415LysfsTer4,p.Glu1415LysfsTer4,c.4243del,frameshift_variant,Pathogenic,37578,lof_flag,1,152218,0.000006569525286102826,0,0,,,33.0,,0.00,-0.160,6.36,,,0,41468,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43082518-C-T,17,43082518,rs1057519558,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1415Lys,p.Glu1415Lys,c.4243G>A,missense_variant,Uncertain significance,462639,,1,628774,0.0000015903965494756462,0,0,,,27.8,0.206,0.00,0.0100,4.29,0.00,0.0380,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43082519-T-C,17,43082519,rs1057521982,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1414Leu,p.Leu1414Leu,c.4242A>G,synonymous_variant,Likely benign,384529,,2,985340,0.000002029756226277224,0,0,,,10.0,,0.00,0.0100,2.76,,,2,57252,0,0,0,16266,0,0,0,8624,0,0,0,8834,0,0,0,10896,0,0,0,1936,0,0,0,829938,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 -17-43082520-A-G,17,43082520,rs878854951,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1414Pro,p.Leu1414Pro,c.4241T>C,missense_variant,Uncertain significance,240801,,1,152226,0.000006569180034948038,0,0,,,28.8,0.318,0.00,0.0100,6.33,,,1,41470,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43082522-T-C,17,43082522,rs2154157156,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1413Glu,p.Glu1413Glu,c.4239A>G,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,,,5.12,,0.00,-0.0100,-0.744,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43082524-C-G,17,43082524,rs397509153,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1413Gln,p.Glu1413Gln,c.4237G>C,missense_variant,Uncertain significance,1738950,,2,1461874,0.0000013681069640748791,0,0,nfe,2.999999999999999e-7,13.7,0.262,0.00,0.00,2.47,0.480,0.255,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43082524-C-T,17,43082524,rs397509153,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1413Lys,p.Glu1413Lys,c.4237G>A,missense_variant,Uncertain significance,824708,,2,1614070,0.0000012391036324322985,0,0,,,16.9,0.199,0.00,0.0100,2.47,0.630,0.0780,1,74930,0,0,0,60004,0,0,0,29606,0,0,1,44902,0,0,0,64020,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,0,91092,0,0,0,62488,0,0 -17-43082527-C-T,17,43082527,rs765183110,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1412Thr,p.Ala1412Thr,c.4234G>A,missense_variant,Uncertain significance,491072,,1,628774,0.0000015903965494756462,0,0,,,26.6,0.214,0.00,0.00,7.13,0.00,0.150,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082530-T-C,17,43082530,rs587781768,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1411Val,p.Met1411Val,c.4231A>G,missense_variant,Uncertain significance,141465,,2,985318,0.000002029801546302818,0,0,,,25.4,0.158,0.00,0.00,6.36,0.00,0.0620,1,57246,0,0,1,16264,0,0,0,8624,0,0,0,8834,0,0,0,10890,0,0,0,1936,0,0,0,829936,0,0,0,912,0,0,0,21290,0,0,0,29386,0,0 -17-43082531-T-C,17,43082531,rs1555584217,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1410Glu,p.Glu1410Glu,c.4230A>G,synonymous_variant,Likely benign,496379,,2,833110,0.0000024006433724238097,0,0,afr,0.00002192,10.5,,0.0100,0.0100,0.345,,,2,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082534-C-G,17,43082534,rs786201618,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1409His,p.Gln1409His,c.4227G>C,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,24.4,0.217,0.00,0.0100,3.59,0.00,0.804,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082536-G-C,17,43082536,rs886040218,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1409Glu,p.Gln1409Glu,c.4225C>G,missense_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,22.3,0.217,0.00,0.0100,4.82,0.0300,0.0120,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082538-T-G,17,43082538,rs1555584227,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1408Pro,p.Gln1408Pro,c.4223A>C,missense_variant,Uncertain significance,531425,,1,833106,0.0000012003274493281767,0,0,,,26.0,0.247,0.0100,0.0400,2.35,0.00,0.454,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43082539-G-A,17,43082539,rs80356989,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1408Ter,p.Gln1408Ter,c.4222C>T,stop_gained,Pathogenic,55145,lof_flag,3,985268,0.0000030448568308318145,0,0,nfe,9.6e-7,38.0,,0.00,-0.120,4.71,,,0,57226,0,0,0,16258,0,0,0,8624,0,0,0,8824,0,0,0,10876,0,0,0,1936,0,0,3,829940,0,0,0,912,0,0,0,21286,0,0,0,29386,0,0 -17-43082541-A-T,17,43082541,rs80357492,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1407His,p.Leu1407His,c.4220T>A,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,28.0,0.283,0.00,0.0100,6.33,0.00,0.453,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082543-C-A,17,43082543,rs1800707,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1406Asn,p.Lys1406Asn,c.4218G>T,missense_variant,Uncertain significance,999083,,11,833110,0.000013203538548330953,0,0,nfe,0.00000775,25.2,0.242,0.360,0.340,2.05,0.00,0.184,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,11,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082547-A-G,17,43082547,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1405Thr,p.Ile1405Thr,c.4214T>C,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,25.7,0.201,0.00,0.0100,3.65,0.0300,0.0450,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43082548-T-C,17,43082548,rs80357353,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1405Val,p.Ile1405Val,c.4213A>G,missense_variant,Conflicting interpretations of pathogenicity,37575,,39,1614082,0.000024162341194561367,1,0,sas,0.00022773999999999998,18.5,0.195,0.0500,-0.0200,1.59,0.140,0.00300,0,74938,0,0,0,60002,0,0,0,29602,0,0,0,44900,0,0,0,64026,0,0,0,6084,0,0,7,1180048,0,0,0,910,0,0,29,91088,1,0,3,62484,0,0 -17-43082550-A-G,17,43082550,rs80356916,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1404Pro,p.Leu1404Pro,c.4211T>C,missense_variant,Uncertain significance,55143,,1,833110,0.0000012003216862119048,0,0,,,29.0,0.410,0.0100,0.00,6.33,0.00,0.454,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43082552-G-A,17,43082552,rs786201224,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1403Asn,p.Asn1403Asn,c.4209C>T,synonymous_variant,Likely benign,184015,,7,1614034,0.000004336959444472669,0,0,amr,0.000022550000000000003,8.22,,0.00,0.0100,2.02,,,0,74908,0,0,4,59998,0,0,0,29606,0,0,0,44898,0,0,0,64014,0,0,0,6084,0,0,2,1180042,0,0,0,912,0,0,0,91084,0,0,1,62488,0,0 -17-43082556-T-C,17,43082556,rs80356882,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His1402Arg,p.His1402Arg,c.4205A>G,missense_variant,Uncertain significance,55141,,1,152216,0.0000065696116045619385,0,0,,,23.1,0.451,0.0300,0.0200,2.95,,,1,41458,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43082557-G-A,17,43082557,rs80357365,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1402Tyr,p.His1402Tyr,c.4204C>T,missense_variant,Benign,55140,,45,1614020,0.00002788069540650054,0,0,nfe,0.00002585,22.8,0.389,0.0100,-0.0200,5.05,0.0400,0.0230,1,74914,0,0,0,59998,0,0,1,29606,0,0,0,44900,0,0,0,63994,0,0,0,6084,0,0,41,1180040,0,0,0,912,0,0,0,91084,0,0,2,62488,0,0 -17-43082561-C-G,17,43082561,rs374416358,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1400Ile,p.Met1400Ile,c.4200G>C,missense_variant,Uncertain significance,801074,,1,152160,0.000006572029442691903,0,0,,,22.6,0.544,0.00,0.0100,1.98,,,1,41438,0,0,0,15262,0,0,0,3472,0,0,0,5204,0,0,0,10608,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 -17-43082562-A-T,17,43082562,rs80357473,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1400Lys,p.Met1400Lys,c.4199T>A,missense_variant,Uncertain significance,653845,,1,152214,0.0000065696979252893955,0,0,,,27.5,0.695,0.00,0.00,6.33,,,1,41448,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68050,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43082563-T-C,17,43082563,rs80357306,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1400Val,p.Met1400Val,c.4198A>G,missense_variant,Uncertain significance,55137,,3,1461860,0.000002052180099325517,0,0,nfe,7.200000000000001e-7,25.6,0.517,0.0300,0.0100,6.36,0.00,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53406,0,0,0,5768,0,0,3,1111998,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43082564-G-C,17,43082564,rs876659552,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1399Thr,p.Thr1399Thr,c.4197C>G,synonymous_variant,Likely benign,232096,,1,628724,0.0000015905230275923935,0,0,,,9.62,,0.0100,0.0100,1.58,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53116,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43082568-T-A,17,43082568,rs761640584,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Val,p.Asp1398Val,c.4193A>T,missense_variant,Uncertain significance,1064293,,1,1461834,6.840721997162468e-7,0,0,,,27.2,0.576,0.0500,-0.0500,4.93,0.00,0.0380,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53392,0,0,0,5768,0,0,0,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43082568-T-C,17,43082568,rs761640584,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Gly,p.Asp1398Gly,c.4193A>G,missense_variant,Uncertain significance,216667,,2,1461834,0.0000013681443994324936,0,0,nfe,2.999999999999999e-7,27.3,0.536,0.0400,-0.100,4.93,0.0200,0.0710,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53392,0,0,0,5768,0,0,2,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43082569-C-T,17,43082569,rs876660331,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Asn,p.Asp1398Asn,c.4192G>A,missense_variant,Uncertain significance,650198,,1,628728,0.0000015905129086027663,0,0,,,23.9,0.385,0.00,0.0100,5.93,0.140,0.105,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53112,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69798,0,0,0,33094,0,0 -17-43082571-C-T,17,43082571,rs767421571,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1397Lys,p.Arg1397Lys,c.4190G>A,missense_variant,Uncertain significance,630120,,3,1461814,0.0000020522446768193492,0,0,nfe,2.999999999999999e-7,18.3,0.508,0.0700,0.0400,1.63,0.360,0.00600,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53384,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86258,0,0,1,60392,0,0 -17-43082572-T-C,17,43082572,rs886037792,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1397Gly,p.Arg1397Gly,c.4189A>G,missense_variant,Uncertain significance,1508878,,2,833094,0.0000024006894780180866,0,0,nfe,4.4e-7,26.9,0.594,0.00,0.0100,2.96,0.00,0.0710,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43082574-T-C,17,43082574,rs750344093,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1396Arg,p.Gln1396Arg,c.4187A>G,missense_variant,,,,1,628732,0.0000015905027897418932,0,0,,,30.0,0.637,0.0200,0.0300,6.36,0.00,0.0270,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53116,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43082574-T-G,17,43082574,rs750344093,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1396Pro,p.Gln1396Pro,c.4187A>C,missense_variant,,,,1,152192,0.000006570647603027754,0,0,,,31.0,0.712,0.0100,0.0100,6.36,,,1,41444,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43082575-G-T,17,43082575,rs80357011,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1396Lys,p.Gln1396Lys,c.4186C>A,missense_variant,Uncertain significance,182160,,2,152104,0.000013148898122337348,0,0,afr,0.00000801,29.6,0.666,0.0600,0.0300,8.79,0.00,0.0460,2,41402,0,0,0,15258,0,0,0,3472,0,0,0,5196,0,0,0,10600,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43082576-C-T,17,43082576,rs397509150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-1G>A,,c.4186-1G>A,splice_acceptor_variant,Uncertain significance,55134,lof_flag,1,833076,0.0000012003706744642745,0,0,,,33.0,,0.990,-0.850,8.90,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761876,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43082581-A-G,17,43082581,rs2053072541,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-6T>C,,c.4186-6T>C,splice_region_variant,Uncertain significance,1022148,,1,833060,0.000001200393729143159,0,0,,,10.9,,0.0100,-0.0200,0.788,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761864,0,0,,,,,0,16460,0,0,0,27290,0,0 -17-43082585-C-T,17,43082585,rs80358172,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-10G>A,,c.4186-10G>A,intron_variant,Conflicting interpretations of pathogenicity,55133,,152,1613860,0.00009418412997409936,1,0,sas,0.0011049999999999994,0.159,,0.0200,-0.0200,-0.620,,,2,75004,0,0,24,59996,0,0,0,29602,0,0,2,44876,0,0,0,63944,0,0,0,6060,0,0,4,1179884,0,0,0,912,0,0,118,91086,1,0,2,62496,0,0 -17-43082586-G-A,17,43082586,rs80358080,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-11C>T,,c.4186-11C>T,intron_variant,Likely benign,125695,,58,1613666,0.00003594300183557192,0,0,nfe,0.000005,2.01,,0.0600,0.0900,-0.137,,,0,74880,0,0,0,59980,0,0,0,29602,0,0,0,44892,0,0,44,63932,0,0,0,6082,0,0,11,1179838,0,0,0,908,0,0,1,91080,0,0,2,62472,0,0 -17-43082593-G-A,17,43082593,rs879255488,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-18C>T,,c.4186-18C>T,intron_variant,Likely benign,252879,,1,628546,0.000001590973453016963,0,0,,,4.33,,0.0300,0.0400,-0.604,,,0,17694,0,0,1,43736,0,0,0,20982,0,0,0,36064,0,0,0,52964,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69788,0,0,0,33092,0,0 -17-43082594-G-A,17,43082594,rs80358016,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-19C>T,,c.4186-19C>T,intron_variant,Likely benign,125697,,35,1613212,0.000021695846547137015,0,0,nfe,0.00002154,5.08,,0.0300,0.0400,0.905,,,0,74886,0,0,0,59976,0,0,0,29598,0,0,0,44888,0,0,0,63830,0,0,0,6082,0,0,35,1179504,0,0,0,912,0,0,0,91072,0,0,0,62464,0,0 -17-43082597-C-T,17,43082597,rs1326892404,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-22G>A,,c.4186-22G>A,intron_variant,,,,4,1460680,0.0000027384505846592,0,0,sas,0.000015830000000000003,6.65,,0.0200,0.0300,-0.104,,,0,33460,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53206,0,0,0,5766,0,0,0,1111130,0,0,,,,,4,86230,0,0,0,60370,0,0 -17-43082598-C-T,17,43082598,rs2053073440,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-23G>A,,c.4186-23G>A,intron_variant,,,,1,152008,0.000006578601126256513,0,0,,,10.1,,0.790,0.590,-0.107,,,1,41354,0,0,0,15262,0,0,0,3472,0,0,0,5196,0,0,0,10594,0,0,0,316,0,0,0,67996,0,0,0,912,0,0,0,4814,0,0,0,2092,0,0 -17-43082598-C-G,17,43082598,rs2053073440,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-23G>C,,c.4186-23G>C,intron_variant,,,,1,831822,0.0000012021802741451896,0,0,,,2.81,,0.00,-0.0200,-0.107,,,0,15768,0,0,0,982,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1616,0,0,1,760698,0,0,,,,,0,16438,0,0,0,27272,0,0 -17-43082601-G-T,17,43082601,rs754508083,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-26C>A,,c.4186-26C>A,intron_variant,,,,13,1611694,0.000008066047276964485,0,0,nfe,0.00000616,7.55,,0.0200,0.0500,0.211,,,0,74850,0,0,0,59986,0,0,0,29590,0,0,0,44874,0,0,0,63712,0,0,0,6078,0,0,13,1178214,0,0,0,910,0,0,0,91056,0,0,0,62424,0,0 -17-43082601-GA-G,17,43082601,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-27del,,c.4186-27del,intron_variant,,,,1,1459564,6.851361091394417e-7,0,0,,,14.4,,0.0100,0.0200,0.211,,,0,33434,0,0,0,44706,0,0,0,26122,0,0,0,39676,0,0,0,53106,0,0,0,5762,0,0,1,1110198,0,0,,,,,0,86224,0,0,0,60336,0,0 -17-43082602-A-T,17,43082602,rs1295074204,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-27T>A,,c.4186-27T>A,intron_variant,,,,7,1611046,0.000004345003184266619,0,0,nfe,0.00000183,16.7,,0.0300,0.0300,1.58,,,1,74884,0,0,0,60004,0,0,0,29596,0,0,0,44886,0,0,0,63722,0,0,0,6080,0,0,6,1177530,0,0,0,912,0,0,0,91050,0,0,0,62382,0,0 -17-43082606-T-C,17,43082606,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-31A>G,,c.4186-31A>G,intron_variant,,,,1,827756,0.0000012080854744634892,0,0,,,15.5,,0.0100,-0.0400,1.27,,,0,15660,0,0,0,980,0,0,0,5130,0,0,0,3612,0,0,0,276,0,0,0,1610,0,0,0,757018,0,0,,,,,0,16352,0,0,1,27118,0,0 -17-43082607-G-T,17,43082607,rs778572131,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-32C>A,,c.4186-32C>A,intron_variant,,,,1,1455938,6.868424342245343e-7,0,0,,,5.91,,0.00,0.0200,-0.335,,,0,33360,0,0,0,44704,0,0,0,26110,0,0,0,39670,0,0,0,52870,0,0,0,5760,0,0,0,1107114,0,0,,,,,1,86152,0,0,0,60198,0,0 -17-43082607-G-A,17,43082607,rs778572131,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-32C>T,,c.4186-32C>T,intron_variant,,,,1,1455938,6.868424342245343e-7,0,0,,,6.61,,0.00,0.0100,-0.335,,,0,33360,0,0,0,44704,0,0,0,26110,0,0,0,39670,0,0,0,52870,0,0,0,5760,0,0,1,1107114,0,0,,,,,0,86152,0,0,0,60198,0,0 -17-43082616-T-C,17,43082616,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-41A>G,,c.4186-41A>G,intron_variant,,,,1,627708,0.0000015930974274662742,0,0,,,10.3,,0.100,0.110,0.0100,,,0,17692,0,0,0,43728,0,0,0,20980,0,0,0,36050,0,0,1,52228,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69784,0,0,0,33078,0,0 -17-43082616-T-G,17,43082616,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-41A>C,,c.4186-41A>C,intron_variant,,,,2,627708,0.0000031861948549325484,0,0,nfe,9.5e-7,10.1,,0.0600,0.0600,0.0100,,,0,17692,0,0,0,43728,0,0,0,20980,0,0,0,36050,0,0,0,52228,0,0,0,4148,0,0,2,350020,0,0,,,,,0,69784,0,0,0,33078,0,0 -17-43082622-G-A,17,43082622,rs1213347712,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-47C>T,,c.4186-47C>T,intron_variant,,,,5,1437082,0.000003479272581522836,0,0,nfe,0.00000134,9.29,,0.00,0.0100,1.28,,,0,32936,0,0,0,44650,0,0,0,25996,0,0,0,39554,0,0,0,51954,0,0,0,5728,0,0,5,1090966,0,0,,,,,0,85694,0,0,0,59604,0,0 -17-43082623-C-G,17,43082623,rs370884761,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-48G>C,,c.4186-48G>C,intron_variant,,,,49,1588630,0.000030844186500317886,0,0,nfe,2.9e-7,0.141,,0.0200,0.0100,-0.127,,,0,74360,0,0,0,59914,0,0,41,29458,0,0,0,44756,0,0,0,62506,0,0,0,6038,0,0,2,1158516,0,0,0,912,0,0,0,90502,0,0,6,61668,0,0 -17-43082623-C-CTTTCCATTAAATGAAAATTAAATGAAA,17,43082623,rs1567783737,C,CTTTCCATTAAATGAAAATTAAATGAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA,,c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA,intron_variant,,,,1,1436454,6.961587353301951e-7,0,0,,,0.564,,0.0100,0.0100,-0.127,,,0,32912,0,0,0,44652,0,0,0,25990,0,0,1,39554,0,0,0,51898,0,0,0,5722,0,0,0,1090476,0,0,,,,,0,85670,0,0,0,59580,0,0 -17-43082624-T-C,17,43082624,rs2154165869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-49A>G,,c.4186-49A>G,intron_variant,,,,5,626738,0.000007977815291238124,0,0,eas,0.0000092,3.83,,0.0300,0.0400,-0.201,,,0,17684,0,0,0,43708,0,0,0,20976,0,0,2,36028,0,0,0,51548,0,0,0,4138,0,0,3,349846,0,0,,,,,0,69744,0,0,0,33066,0,0 -17-43082626-T-C,17,43082626,rs771246729,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-51A>G,,c.4186-51A>G,intron_variant,,,,1,1431284,6.986733590258816e-7,0,0,,,6.45,,0.0100,-0.0100,1.36,,,0,32816,0,0,0,44612,0,0,0,25968,0,0,1,39514,0,0,0,51550,0,0,0,5702,0,0,0,1086198,0,0,,,,,0,85530,0,0,0,59394,0,0 -17-43082629-A-G,17,43082629,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-54T>C,,c.4186-54T>C,intron_variant,,,,1,625178,0.0000015995444497407139,0,0,,,10.5,,0.0100,0.0100,2.99,,,0,17630,0,0,0,43630,0,0,0,20968,0,0,0,35998,0,0,0,50678,0,0,0,4134,0,0,1,349488,0,0,,,,,0,69632,0,0,0,33020,0,0 -17-43082630-T-A,17,43082630,rs2053075361,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-55A>T,,c.4186-55A>T,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,1.21,,0.0100,0.0100,0.139,,,1,41452,0,0,0,15284,0,0,0,3466,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4838,0,0,0,2094,0,0 -17-43082633-A-C,17,43082633,rs2053075528,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-58T>G,,c.4186-58T>G,intron_variant,,,,19,1564748,0.000012142530298808499,0,0,nfe,0.00000791,8.05,,0.00,0.00,-0.247,,,2,73872,0,0,0,59752,0,0,0,29342,0,0,0,44594,0,0,0,61148,0,0,0,5988,0,0,15,1138446,0,0,0,912,0,0,0,89846,0,0,2,60848,0,0 -17-43082633-A-T,17,43082633,rs2053075528,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-58T>A,,c.4186-58T>A,intron_variant,,,,1,1412482,7.079736237346741e-7,0,0,,,7.92,,0.00,-0.0100,-0.247,,,0,32402,0,0,0,44464,0,0,0,25870,0,0,0,39388,0,0,0,50522,0,0,0,5672,0,0,1,1070402,0,0,,,,,0,85008,0,0,0,58754,0,0 -17-43082634-AT-A,17,43082634,rs1299697640,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-60del,,c.4186-60del,intron_variant,,,,10,1553090,0.000006438776889941987,0,0,amr,0.00007776999999999998,0.0170,,0.00,0.0400,-0.170,,,0,73594,0,0,9,59622,0,0,0,29266,0,0,0,44478,0,0,0,60674,0,0,0,5938,0,0,0,1128594,0,0,0,912,0,0,0,89546,0,0,1,60466,0,0 -17-43082636-G-A,17,43082636,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-61C>T,,c.4186-61C>T,intron_variant,,,,2,1401538,0.0000014270037630089231,0,0,nfe,3.1e-7,0.0990,,0.00,0.00,0.132,,,0,32178,0,0,0,44332,0,0,0,25796,0,0,0,39252,0,0,0,49948,0,0,0,5622,0,0,2,1061306,0,0,,,,,0,84688,0,0,0,58416,0,0 -17-43082637-A-T,17,43082637,rs1389781390,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-62T>A,,c.4186-62T>A,intron_variant,,,,3,1547508,0.0000019386006405136515,0,0,amr,0.00000558,7.34,,0.00,0.0100,1.31,,,1,73470,0,0,2,59506,0,0,0,29198,0,0,0,44402,0,0,0,60200,0,0,0,5930,0,0,0,1124290,0,0,0,912,0,0,0,89302,0,0,0,60298,0,0 -17-43082637-A-G,17,43082637,rs1389781390,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-62T>C,,c.4186-62T>C,intron_variant,,,,10,1547508,0.000006462002135045505,0,0,amr,0.00007889999999999998,7.67,,0.00,-0.0100,1.31,,,0,73470,0,0,9,59506,0,0,0,29198,0,0,0,44402,0,0,0,60200,0,0,0,5930,0,0,0,1124290,0,0,0,912,0,0,0,89302,0,0,1,60298,0,0 -17-43082638-A-G,17,43082638,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-63T>C,,c.4186-63T>C,intron_variant,,,,1,774588,0.0000012910088976333225,0,0,,,4.42,,0.00,0.00,2.60,,,0,14518,0,0,0,890,0,0,0,4826,0,0,0,3372,0,0,0,258,0,0,0,1512,0,0,1,708704,0,0,,,,,0,15182,0,0,0,25326,0,0 -17-43082641-T-C,17,43082641,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-66A>G,,c.4186-66A>G,intron_variant,,,,1,619350,0.000001614595947364172,0,0,,,7.18,,0.00,0.0100,0.197,,,0,17420,0,0,0,43118,0,0,0,20896,0,0,0,35720,0,0,1,48588,0,0,0,4076,0,0,0,347552,0,0,,,,,0,69110,0,0,0,32870,0,0 -17-43082642-A-G,17,43082642,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-67T>C,,c.4186-67T>C,intron_variant,,,,2,617612,0.000003238279048982209,0,0,,,8.63,,0.00,0.0100,0.761,,,0,17358,0,0,0,42948,0,0,0,20882,0,0,0,35630,0,0,0,48220,0,0,0,4064,0,0,1,346758,0,0,,,,,1,68936,0,0,0,32816,0,0 -17-43082643-T-A,17,43082643,rs1323178156,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-68A>T,,c.4186-68A>T,intron_variant,,,,1,761814,0.0000013126563701900988,0,0,,,7.56,,0.0300,0.0200,0.413,,,0,14212,0,0,0,878,0,0,0,4716,0,0,0,3294,0,0,0,242,0,0,0,1476,0,0,1,697178,0,0,,,,,0,14942,0,0,0,24876,0,0 -17-43082643-T-C,17,43082643,rs1323178156,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-68A>G,,c.4186-68A>G,intron_variant,,,,1,152218,0.000006569525286102826,0,0,,,7.88,,0.00,0.00,0.413,,,0,41460,0,0,0,15274,0,0,0,3468,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68048,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43082644-A-G,17,43082644,rs2053076308,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-69T>C,,c.4186-69T>C,intron_variant,,,,1,616072,0.0000016231869002324403,0,0,,,7.21,,0.00,0.00,0.559,,,0,17274,0,0,0,42802,0,0,0,20878,0,0,0,35552,0,0,0,47840,0,0,0,4034,0,0,1,346142,0,0,,,,,0,68788,0,0,0,32762,0,0 -17-43082648-T-C,17,43082648,rs1456051681,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-73A>G,,c.4186-73A>G,intron_variant,,,,1,1362848,7.337575430275423e-7,0,0,,,2.53,,0.00,0.00,-0.678,,,0,31062,0,0,0,43244,0,0,0,25516,0,0,0,38506,0,0,0,46992,0,0,0,5454,0,0,1,1031790,0,0,,,,,0,83150,0,0,0,57134,0,0 -17-43082650-C-G,17,43082650,rs2053076593,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-75G>C,,c.4186-75G>C,intron_variant,,,,2,1360630,0.0000014699073223433262,0,0,sas,0.000004,0.683,,0.00,0.00,-0.0170,,,0,30998,0,0,0,43052,0,0,0,25490,0,0,0,38410,0,0,0,46642,0,0,0,5436,0,0,0,1030446,0,0,,,,,2,83056,0,0,0,57100,0,0 -17-43082650-C-T,17,43082650,rs2053076593,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-75G>A,,c.4186-75G>A,intron_variant,,,,1,1360630,7.349536611716631e-7,0,0,,,0.819,,0.00,0.00,-0.0170,,,0,30998,0,0,0,43052,0,0,0,25490,0,0,0,38410,0,0,0,46642,0,0,0,5436,0,0,1,1030446,0,0,,,,,0,83056,0,0,0,57100,0,0 -17-43090869-A-C,17,43090869,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+75T>G,,c.4185+75T>G,intron_variant,,,,1,563724,0.000001773917732791224,0,0,,,9.41,,0.00,0.00,2.42,,,0,16108,0,0,0,35206,0,0,0,20086,0,0,0,32758,0,0,0,42412,0,0,0,4074,0,0,0,318824,0,0,,,,,1,63372,0,0,0,30884,0,0 -17-43090870-G-A,17,43090870,rs2154248208,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+74C>T,,c.4185+74C>T,intron_variant,,,,2,1352186,0.0000014790864570406733,0,0,,,3.08,,0.00,0.00,0.589,,,0,69272,0,0,0,51294,0,0,0,27484,0,0,1,40688,0,0,0,53342,0,0,0,5634,0,0,1,969080,0,0,0,912,0,0,0,80690,0,0,0,53790,0,0 -17-43090871-AATGT-A,17,43090871,,AATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+69_4185+72del,,c.4185+69_4185+72del,intron_variant,,,,2,1197098,0.000001670706993078261,0,0,,,7.10,,0.00,0.00,-0.165,,,0,27772,0,0,0,36088,0,0,0,23970,0,0,0,35566,0,0,0,43110,0,0,0,5322,0,0,1,897776,0,0,,,,,0,75894,0,0,1,51600,0,0 -17-43090873-T-G,17,43090873,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+71A>C,,c.4185+71A>C,intron_variant,,,,1,646732,0.0000015462355349665703,0,0,,,3.15,,0.00,0.00,-2.18,,,0,11906,0,0,0,782,0,0,0,3988,0,0,0,2752,0,0,0,218,0,0,0,1268,0,0,1,591928,0,0,,,,,0,12698,0,0,0,21192,0,0 -17-43090874-G-A,17,43090874,rs997416809,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+70C>T,,c.4185+70C>T,intron_variant,,,,2,1218564,0.0000016412761250127199,0,0,amr,0.00000914,3.06,,0.00,0.00,0.462,,,0,28240,0,0,2,36260,0,0,0,24154,0,0,0,35768,0,0,0,43764,0,0,0,5358,0,0,0,916320,0,0,,,,,0,76446,0,0,0,52254,0,0 -17-43090875-T-C,17,43090875,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+69A>G,,c.4185+69A>G,intron_variant,,,,1,567404,0.00000176241267245208,0,0,,,0.441,,0.00,0.00,-3.27,,,0,16244,0,0,0,35528,0,0,0,20122,0,0,0,33074,0,0,0,43816,0,0,0,4078,0,0,1,319900,0,0,,,,,0,63676,0,0,0,30966,0,0 -17-43090878-G-A,17,43090878,rs1263850734,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+66C>T,,c.4185+66C>T,intron_variant,,,,6,1229262,0.00000488097736690795,0,0,eas,0.000037849999999999985,2.59,,0.00,0.00,-0.00400,,,0,28544,0,0,0,36520,0,0,0,24228,0,0,4,36048,0,0,0,44522,0,0,0,5386,0,0,0,924626,0,0,,,,,1,76804,0,0,1,52584,0,0 -17-43090878-G-T,17,43090878,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+66C>A,,c.4185+66C>A,intron_variant,,,,1,1229260,8.134975513723703e-7,0,0,,,2.11,,0.00,0.00,-0.00400,,,0,28544,0,0,0,36520,0,0,0,24228,0,0,0,36048,0,0,0,44522,0,0,0,5386,0,0,1,924624,0,0,,,,,0,76804,0,0,0,52584,0,0 -17-43090883-A-G,17,43090883,rs2154248465,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+61T>C,,c.4185+61T>C,intron_variant,,,,16,703194,0.000022753322696154974,0,0,nfe,0.00001471,7.41,,0.00,0.00,-0.0470,,,0,13016,0,0,0,842,0,0,0,4398,0,0,0,2986,0,0,0,232,0,0,0,1390,0,0,16,643444,0,0,,,,,0,13892,0,0,0,22994,0,0 -17-43090886-C-T,17,43090886,rs1027122868,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+58G>A,,c.4185+58G>A,intron_variant,,,,2,1296004,0.0000015432051135644644,0,0,,,0.0230,,0.00,0.00,-1.98,,,0,29950,0,0,0,37390,0,0,0,24704,0,0,0,36882,0,0,0,46314,0,0,0,5486,0,0,1,981906,0,0,,,,,1,78576,0,0,0,54796,0,0 -17-43090888-A-G,17,43090888,rs2154248808,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+56T>C,,c.4185+56T>C,intron_variant,,,,1,577794,0.0000017307206374590252,0,0,,,9.69,,0.00,-0.0100,1.50,,,1,16654,0,0,0,36780,0,0,0,20212,0,0,0,33962,0,0,0,46476,0,0,0,4088,0,0,0,323820,0,0,,,,,0,64556,0,0,0,31246,0,0 -17-43090889-C-T,17,43090889,rs2154248837,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+55G>A,,c.4185+55G>A,intron_variant,,,,3,1317606,0.0000022768566627656524,0,0,nfe,3.3e-7,2.21,,0.00,0.0100,1.34,,,0,30482,0,0,0,37772,0,0,0,24820,0,0,0,37206,0,0,0,46846,0,0,0,5520,0,0,2,1000286,0,0,,,,,0,79204,0,0,1,55470,0,0 -17-43090889-C-A,17,43090889,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+55G>T,,c.4185+55G>T,intron_variant,,,,3,1317606,0.0000022768566627656524,0,0,sas,0.00001006,1.55,,0.00,0.00,1.34,,,0,30482,0,0,0,37772,0,0,0,24820,0,0,0,37206,0,0,0,46846,0,0,0,5520,0,0,0,1000286,0,0,,,,,3,79204,0,0,0,55470,0,0 -17-43090890-T-C,17,43090890,rs1290819225,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+54A>G,,c.4185+54A>G,intron_variant,,,,2,152146,0.000013145268360653583,0,0,afr,0.000008,6.76,,0.00,0.00,-0.00700,,,2,41438,0,0,0,15260,0,0,0,3472,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 -17-43090891-G-A,17,43090891,rs2154248904,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+53C>T,,c.4185+53C>T,intron_variant,,,,2,1325890,0.0000015084207588864839,0,0,nfe,3.3e-7,1.17,,0.00,0.00,0.229,,,0,30662,0,0,0,38010,0,0,0,24882,0,0,0,37416,0,0,0,47186,0,0,0,5528,0,0,2,1006992,0,0,,,,,0,79424,0,0,0,55790,0,0 -17-43090895-G-C,17,43090895,rs2154248998,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+49C>G,,c.4185+49C>G,intron_variant,,,,1,1350882,7.4025710609809e-7,0,0,,,3.77,,0.00,0.00,0.945,,,0,31222,0,0,0,38502,0,0,0,25000,0,0,0,37794,0,0,0,47776,0,0,0,5576,0,0,1,1028116,0,0,,,,,0,80282,0,0,0,56614,0,0 -17-43090897-A-G,17,43090897,rs1408554738,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+47T>C,,c.4185+47T>C,intron_variant,Uncertain significance,1345035,,3,739336,0.000004057695012822316,0,0,nfe,0.00000202,9.83,,0.00,0.0100,1.13,,,0,58438,0,0,0,53326,0,0,0,23768,0,0,0,39910,0,0,0,58748,0,0,0,4416,0,0,3,395948,0,0,0,910,0,0,0,70240,0,0,0,33632,0,0 -17-43090900-G-T,17,43090900,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+44C>A,,c.4185+44C>A,intron_variant,,,,1,588864,0.0000016981849798934899,0,0,,,7.63,,0.00,0.00,1.40,,,0,17032,0,0,0,38346,0,0,0,20306,0,0,0,34842,0,0,1,48434,0,0,0,4090,0,0,0,328684,0,0,,,,,0,65542,0,0,0,31588,0,0 -17-43090904-A-C,17,43090904,rs781561618,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+40T>G,,c.4185+40T>G,intron_variant,Likely benign,811556,,23,1391760,0.00001652583778812439,1,0,amr,0.0003509900000000001,7.47,,0.00,0.00,0.118,,,0,32214,0,0,21,40090,1,0,0,25286,0,0,0,38528,0,0,0,49516,0,0,0,5658,0,0,1,1060808,0,0,,,,,0,81764,0,0,1,57896,0,0 -17-43090905-CCACACACACGCATGTGCACA-C,17,43090905,rs1597857767,CCACACACACGCATGTGCACA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19_4185+38del,,c.4185+19_4185+38del,intron_variant,Likely benign,704735,,1,1397458,7.155850122150362e-7,0,0,,,5.90,,0.0100,0.0100,-0.156,,,0,32368,0,0,0,40194,0,0,0,25330,0,0,0,38564,0,0,0,49562,0,0,0,5666,0,0,1,1065744,0,0,,,,,0,81946,0,0,0,58084,0,0 -17-43090905-C-G,17,43090905,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+39G>C,,c.4185+39G>C,intron_variant,,,,1,1397460,7.155839880926825e-7,0,0,,,5.34,,0.00,0.00,-0.156,,,0,32368,0,0,0,40194,0,0,0,25330,0,0,0,38564,0,0,0,49564,0,0,0,5666,0,0,0,1065744,0,0,,,,,0,81946,0,0,1,58084,0,0 -17-43090905-CCACACACACGCATGTGCA-C,17,43090905,rs768092833,CCACACACACGCATGTGCA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21_4185+38del,,c.4185+21_4185+38del,intron_variant,Likely benign,491069,,8,1549540,0.000005162822515068988,0,0,nfe,0.0000019000000000000002,6.12,,0.00,0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,0,43754,0,0,1,60164,0,0,0,5982,0,0,6,1133776,0,0,0,910,0,0,1,86760,0,0,0,60172,0,0 -17-43090905-CCA-C,17,43090905,rs760098710,CCA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+37_4185+38del,,c.4185+37_4185+38del,intron_variant,Conflicting interpretations of pathogenicity,873428,,251,1549540,0.00016198355641028952,0,0,nfe,0.00018891,4.26,,0.00,0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,1,43754,0,0,0,60164,0,0,0,5982,0,0,240,1133776,0,0,0,910,0,0,0,86760,0,0,10,60172,0,0 -17-43090905-C-CCACACACACGCATGTG,17,43090905,rs1350338513,C,CCACACACACGCATGTG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+23_4185+38dup,,c.4185+23_4185+38dup,intron_variant,,,,3,1549540,0.0000019360584431508707,0,0,nfe,6.999999999999999e-7,3.04,,0.00,-0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,0,43754,0,0,0,60164,0,0,0,5982,0,0,3,1133776,0,0,0,910,0,0,0,86760,0,0,0,60172,0,0 -17-43090906-C-G,17,43090906,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+38G>C,,c.4185+38G>C,intron_variant,,,,1,1399752,7.144122673159246e-7,0,0,,,1.83,,0.00,0.00,0.00900,,,0,32382,0,0,0,40488,0,0,0,25374,0,0,0,38646,0,0,0,49706,0,0,0,5676,0,0,1,1067138,0,0,,,,,0,82186,0,0,0,58156,0,0 -17-43090909-A-G,17,43090909,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+35T>C,,c.4185+35T>C,intron_variant,,,,2,600196,0.0000033322448000319894,0,0,nfe,0.000001,7.36,,0.00,0.00,1.37,,,0,17302,0,0,0,40122,0,0,0,20412,0,0,0,35360,0,0,0,49956,0,0,0,4106,0,0,2,334326,0,0,,,,,0,66618,0,0,0,31994,0,0 -17-43090910-C-G,17,43090910,rs1004447600,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+34G>C,,c.4185+34G>C,intron_variant,,,,1,1410968,7.087332951562332e-7,0,0,,,4.54,,0.00,0.00,-0.790,,,0,32654,0,0,0,41182,0,0,0,25474,0,0,0,38898,0,0,0,50262,0,0,0,5708,0,0,1,1075568,0,0,,,,,0,82656,0,0,0,58566,0,0 -17-43090910-C-T,17,43090910,rs1004447600,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+34G>A,,c.4185+34G>A,intron_variant,Likely benign,2576275,,8,1563106,0.000005118015029051133,0,0,amr,0.00000587,4.86,,0.00,0.00,-0.790,,,2,74080,0,0,2,56462,0,0,0,28940,0,0,0,44096,0,0,0,60872,0,0,0,6024,0,0,3,1143582,0,0,0,912,0,0,0,87484,0,0,1,60654,0,0 -17-43090912-C-G,17,43090912,rs1207412157,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+32G>C,,c.4185+32G>C,intron_variant,,,,2,152122,0.000013147342264761178,0,0,afr,0.000008,0.799,,0.00,0.00,0.346,,,2,41406,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4822,0,0,0,2086,0,0 -17-43090913-ACG-A,17,43090913,,ACG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+29_4185+30del,,c.4185+29_4185+30del,intron_variant,,,,1,604140,0.0000016552454729036315,0,0,,,0.179,,0.00,0.0100,-0.0120,,,0,17382,0,0,0,40748,0,0,0,20442,0,0,0,35534,0,0,0,50422,0,0,0,4112,0,0,0,336382,0,0,,,,,0,66982,0,0,1,32136,0,0 -17-43090914-C-T,17,43090914,rs80358139,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+30G>A,,c.4185+30G>A,intron_variant,Likely benign,125691,,64,1567194,0.00004083731816226964,1,0,sas,0.00017895999999999998,0.383,,0.00,0.00,-3.42,,,12,74218,0,0,3,57058,0,0,17,28972,0,0,0,44238,0,0,0,61318,0,0,0,5988,0,0,7,1145858,0,0,0,912,0,0,23,87790,1,0,2,60842,0,0 -17-43090915-G-C,17,43090915,rs273900726,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+29C>G,,c.4185+29C>G,intron_variant,,,,2,1573452,0.0000012710905702874954,0,0,,,0.203,,0.00,0.00,0.164,,,2,74232,0,0,0,57146,0,0,0,28984,0,0,0,44266,0,0,0,61332,0,0,0,6024,0,0,0,1151494,0,0,0,912,0,0,0,88044,0,0,0,61018,0,0 -17-43090915-G-A,17,43090915,rs273900726,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+29C>T,,c.4185+29C>T,intron_variant,Uncertain significance,125689,,58,1573452,0.000036861626538337364,0,0,amr,0.00016100999999999998,0.243,,0.00,0.00,0.164,,,1,74232,0,0,15,57146,0,0,0,28984,0,0,0,44266,0,0,0,61332,0,0,3,6024,0,0,36,1151494,0,0,0,912,0,0,0,88044,0,0,3,61018,0,0 -17-43090918-T-G,17,43090918,rs775926635,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+26A>C,,c.4185+26A>C,intron_variant,,,,2,1432392,0.0000013962658266731453,0,0,nfe,2.999999999999999e-7,0.100,,0.00,0.00,-1.19,,,0,33028,0,0,0,42394,0,0,0,25586,0,0,0,39284,0,0,0,51332,0,0,0,5728,0,0,2,1092092,0,0,,,,,0,83616,0,0,0,59332,0,0 -17-43090919-G-A,17,43090919,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+25C>T,,c.4185+25C>T,intron_variant,,,,1,1431266,6.986821457367115e-7,0,0,,,0.158,,0.00,0.00,-0.743,,,0,32994,0,0,0,42382,0,0,0,25600,0,0,0,39270,0,0,0,51308,0,0,0,5720,0,0,1,1091098,0,0,,,,,0,83596,0,0,0,59298,0,0 -17-43090920-T-G,17,43090920,rs763074389,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+24A>C,,c.4185+24A>C,intron_variant,Likely benign,491070,,21,1587706,0.000013226630119178235,0,0,nfe,0.00000968,0.344,,0.00,0.00,-0.768,,,1,74492,0,0,0,57906,0,0,0,29084,0,0,0,44542,0,0,0,62150,0,0,0,6048,0,0,18,1162376,0,0,0,912,0,0,0,88656,0,0,2,61540,0,0 -17-43090920-T-C,17,43090920,rs763074389,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+24A>G,,c.4185+24A>G,intron_variant,Likely benign,439445,,20,1435552,0.000013931923051202604,0,0,sas,0.00015733999999999998,0.405,,0.00,0.00,-0.768,,,0,33056,0,0,0,42634,0,0,0,25614,0,0,0,39344,0,0,0,51538,0,0,0,5732,0,0,0,1094354,0,0,,,,,20,83828,0,0,0,59452,0,0 -17-43090921-GCACA-G,17,43090921,rs273900723,GCACA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19_4185+22del,,c.4185+19_4185+22del,intron_variant,Likely benign,754961,,1,1430320,6.99144247441132e-7,0,0,,,1.60,,0.00,0.0100,-1.91,,,0,32946,0,0,0,42610,0,0,0,25596,0,0,0,39290,0,0,0,51258,0,0,0,5720,0,0,0,1089826,0,0,,,,,1,83758,0,0,0,59316,0,0 -17-43090921-GCA-G,17,43090921,rs273900723,GCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+21_4185+22del,,c.4185+21_4185+22del,intron_variant,Benign/Likely benign,125686,,354,1425062,0.0002484102446069013,0,0,amr,0.00037355000000000016,1.84,,0.00,0.0100,-1.91,,,3,32834,0,0,30,42440,0,0,2,25524,0,0,10,39078,0,0,34,50978,0,0,2,5706,0,0,234,1085814,0,0,,,,,23,83566,0,0,16,59122,0,0 -17-43090921-G-GCA,17,43090921,rs273900723,G,GCA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21_4185+22dup,,c.4185+21_4185+22dup,intron_variant,Conflicting interpretations of pathogenicity,371824,,77,1581826,0.00004867792032752022,1,0,sas,0.00007803999999999998,0.241,,0.00,0.0100,-1.91,,,2,74306,0,0,1,57844,0,0,0,29064,0,0,0,44474,0,0,1,61804,0,0,2,6036,0,0,57,1157420,0,0,0,910,0,0,12,88576,0,0,2,61392,1,0 -17-43090923-A-G,17,43090923,rs1192950184,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21T>C,,c.4185+21T>C,intron_variant,Likely benign,631071,,5,1520640,0.0000032880892255892254,0,0,nfe,8.500000000000001e-7,5.71,,0.00,-0.0100,0.218,,,1,73034,0,0,0,56110,0,0,0,28536,0,0,0,42944,0,0,0,59250,0,0,0,5904,0,0,4,1108292,0,0,0,910,0,0,0,86408,0,0,0,59252,0,0 -17-43090925-A-G,17,43090925,rs2154249642,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19T>C,,c.4185+19T>C,intron_variant,Likely benign,2089457,,1,827326,0.0000012087133729630159,0,0,,,5.42,,0.0100,0.00,0.218,,,0,15672,0,0,0,980,0,0,0,5126,0,0,0,3610,0,0,0,268,0,0,0,1610,0,0,1,756576,0,0,,,,,0,16360,0,0,0,27124,0,0 -17-43090926-C-T,17,43090926,rs1388759085,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+18G>A,,c.4185+18G>A,intron_variant,Likely benign,628265,,1,1445300,6.918978758735211e-7,0,0,,,0.0440,,0.00,0.00,0.272,,,0,33254,0,0,1,43338,0,0,0,25712,0,0,0,39500,0,0,0,52024,0,0,0,5736,0,0,0,1101576,0,0,,,,,0,84370,0,0,0,59790,0,0 -17-43090928-C-G,17,43090928,rs774646943,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+16G>C,,c.4185+16G>C,intron_variant,Conflicting interpretations of pathogenicity,415557,,1,152200,0.00000657030223390276,0,0,,,8.32,,0.00,0.00,0.166,,,0,41450,0,0,1,15282,0,0,0,3470,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43090928-C-A,17,43090928,rs774646943,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+16G>T,,c.4185+16G>T,intron_variant,Likely benign,2153625,,1,1447356,6.909150202161735e-7,0,0,,,8.13,,0.00,0.00,0.166,,,0,33284,0,0,0,43442,0,0,1,25728,0,0,0,39536,0,0,0,52144,0,0,0,5740,0,0,0,1103120,0,0,,,,,0,84504,0,0,0,59858,0,0 -17-43090928-C-T,17,43090928,rs774646943,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+16G>A,,c.4185+16G>A,intron_variant,Likely benign,509366,,1,152200,0.00000657030223390276,0,0,,,8.75,,0.0100,0.00,0.166,,,0,41450,0,0,0,15282,0,0,0,3470,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43090929-A-G,17,43090929,rs1173950890,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+15T>C,,c.4185+15T>C,intron_variant,,,,2,617822,0.000003237178345866609,0,0,,,7.16,,0.00,0.0100,-0.548,,,0,17578,0,0,0,42546,0,0,0,20612,0,0,0,35934,0,0,0,51960,0,0,0,4130,0,0,1,344266,0,0,,,,,1,68126,0,0,0,32670,0,0 -17-43090930-C-T,17,43090930,rs762153716,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+14G>A,,c.4185+14G>A,intron_variant,Likely benign,1095622,,2,618138,0.0000032355234591628407,0,0,,,0.409,,0.00,0.0100,0.00800,,,0,17578,0,0,0,42592,0,0,0,20620,0,0,0,35926,0,0,2,51972,0,0,0,4132,0,0,0,344454,0,0,,,,,0,68180,0,0,0,32684,0,0 -17-43090930-C-G,17,43090930,rs762153716,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+14G>C,,c.4185+14G>C,intron_variant,Benign/Likely benign,188411,,5,618138,0.000008088808647907102,0,0,nfe,0.00000525,0.332,,0.00,0.00,0.00800,,,0,17578,0,0,0,42592,0,0,0,20620,0,0,0,35926,0,0,0,51972,0,0,0,4132,0,0,5,344454,0,0,,,,,0,68180,0,0,0,32684,0,0 -17-43090931-A-G,17,43090931,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+13T>C,,c.4185+13T>C,intron_variant,,,,1,618748,0.0000016161668401352407,0,0,,,5.55,,0.00,0.0100,-0.801,,,0,17590,0,0,0,42638,0,0,0,20624,0,0,0,35956,0,0,0,52058,0,0,0,4130,0,0,0,344802,0,0,,,,,1,68232,0,0,0,32718,0,0 -17-43090932-C-T,17,43090932,rs1453378073,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+12G>A,,c.4185+12G>A,intron_variant,Likely benign,531503,,1,1451438,6.889719023478785e-7,0,0,,,0.785,,0.0300,0.0100,-1.82,,,0,33356,0,0,0,43676,0,0,0,25782,0,0,0,39578,0,0,0,52332,0,0,0,5748,0,0,0,1106248,0,0,,,,,0,84712,0,0,1,60006,0,0 -17-43090933-A-G,17,43090933,rs2154249843,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+11T>C,,c.4185+11T>C,intron_variant,Likely benign,1158682,,1,1451542,6.889225389275681e-7,0,0,,,0.329,,0.00,0.00,-0.948,,,0,33350,0,0,0,43714,0,0,0,25782,0,0,0,39584,0,0,0,52374,0,0,0,5746,0,0,1,1106258,0,0,,,,,0,84710,0,0,0,60024,0,0 -17-43090934-C-G,17,43090934,rs80358104,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+10G>C,,c.4185+10G>C,intron_variant,Benign,125685,,36,1603480,0.00002245116870805997,0,0,nfe,0.00002005,0.0130,,0.00,0.00,-1.48,,,2,74808,0,0,0,59030,0,0,0,29262,0,0,0,44784,0,0,0,63004,0,0,0,6060,0,0,33,1173956,0,0,0,912,0,0,0,89570,0,0,1,62094,0,0 -17-43090934-C-T,17,43090934,rs80358104,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+10G>A,,c.4185+10G>A,intron_variant,Conflicting interpretations of pathogenicity,96927,,33,1603478,0.000020580263651886713,0,0,nfe,0.000014619999999999999,0.0270,,0.00,0.00,-1.48,,,2,74808,0,0,0,59030,0,0,0,29262,0,0,1,44784,0,0,1,63004,0,0,1,6060,0,0,25,1173954,0,0,0,912,0,0,1,89570,0,0,2,62094,0,0 -17-43090935-G-A,17,43090935,rs80358034,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+9C>T,,c.4185+9C>T,intron_variant,Benign/Likely benign,96929,,20,1604074,0.000012468252711533259,0,0,sas,0.000029020000000000003,3.20,,0.00,0.0100,1.34,,,2,74880,0,0,0,59032,0,0,0,29268,0,0,1,44772,0,0,0,62962,0,0,1,6042,0,0,9,1174460,0,0,0,912,0,0,6,89588,0,0,1,62158,0,0 -17-43090939-T-C,17,43090939,rs766330646,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+5A>G,,c.4185+5A>G,intron_variant,Conflicting interpretations of pathogenicity,462638,,2,621860,0.0000032161579776798635,0,0,,,8.33,,0.00,-0.0400,0.0890,,,0,17626,0,0,0,42972,0,0,0,20692,0,0,0,36006,0,0,0,52428,0,0,0,4130,0,0,0,346634,0,0,,,,,1,68532,0,0,1,32840,0,0 -17-43090944-C-T,17,43090944,rs80356857,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Gln,p.Gln1395Gln,c.4185G>A,splice_region_variant,Pathogenic,55131,,2,1456040,0.0000013735886376747893,0,0,nfe,2.999999999999999e-7,25.4,,0.930,-0.760,8.87,,,0,33424,0,0,0,44072,0,0,0,25866,0,0,0,39646,0,0,0,52834,0,0,0,5756,0,0,2,1109110,0,0,,,,,0,85144,0,0,0,60188,0,0 -17-43090945-T-C,17,43090945,rs80356972,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Arg,p.Gln1395Arg,c.4184A>G,missense_variant,Conflicting interpretations of pathogenicity,55127,,2,623366,0.0000032083880096123304,0,0,nfe,9.6e-7,33.0,0.652,0.360,-0.330,6.33,0.00,0.00600,0,17646,0,0,0,43126,0,0,0,20716,0,0,0,36040,0,0,0,52604,0,0,0,4138,0,0,2,347478,0,0,,,,,0,68716,0,0,0,32902,0,0 -17-43090946-G-A,17,43090946,rs80357260,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Ter,p.Gln1395Ter,c.4183C>T,stop_gained,Pathogenic,55125,,2,1456324,0.0000013733207720260052,0,0,,,50.0,,0.230,-0.310,8.76,,,0,33426,0,0,0,44136,0,0,0,25874,0,0,0,39660,0,0,0,52830,0,0,0,5758,0,0,1,1109274,0,0,,,,,1,85184,0,0,0,60182,0,0 -17-43090946-G-C,17,43090946,rs80357260,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Glu,p.Gln1395Glu,c.4183C>G,missense_variant,Uncertain significance,1513251,,1,1456324,6.866603860130026e-7,0,0,,,29.8,0.558,0.0100,-0.0400,8.76,0.00,0.0710,0,33426,0,0,0,44136,0,0,0,25874,0,0,0,39660,0,0,0,52830,0,0,0,5758,0,0,1,1109274,0,0,,,,,0,85184,0,0,0,60182,0,0 -17-43090948-G-A,17,43090948,rs397507226,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1394Ile,p.Thr1394Ile,c.4181C>T,missense_variant,Conflicting interpretations of pathogenicity,37573,,2,985172,0.0000020301023577608785,0,0,,,24.0,0.565,0.00,0.00,6.96,0.00,0.297,2,57232,0,0,0,16256,0,0,0,8622,0,0,0,8828,0,0,0,10890,0,0,0,1936,0,0,0,829822,0,0,0,912,0,0,0,21290,0,0,0,29384,0,0 -17-43090950-G-C,17,43090950,rs753735698,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Thr,p.Thr1393Thr,c.4179C>G,synonymous_variant,Likely benign,427298,,2,624324,0.000003203464867600797,0,0,eas,0.0000092,8.94,,0.00,-0.0100,0.598,,,0,17652,0,0,0,43222,0,0,0,20742,0,0,2,36028,0,0,0,52668,0,0,0,4142,0,0,0,348064,0,0,,,,,0,68878,0,0,0,32928,0,0 -17-43090950-G-A,17,43090950,rs753735698,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Thr,p.Thr1393Thr,c.4179C>T,synonymous_variant,Likely benign,230701,,2,624324,0.000003203464867600797,0,0,amr,0.00000767,9.37,,0.00,0.00,0.598,,,0,17652,0,0,2,43222,0,0,0,20742,0,0,0,36028,0,0,0,52668,0,0,0,4142,0,0,0,348064,0,0,,,,,0,68878,0,0,0,32928,0,0 -17-43090952-T-G,17,43090952,rs587782870,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Pro,p.Thr1393Pro,c.4177A>C,missense_variant,,,,1,624786,0.0000016005480276446656,0,0,,,26.7,0.547,0.00,0.00,3.67,0.00,0.355,0,17666,0,0,0,43260,0,0,0,20754,0,0,0,36046,0,0,0,52734,0,0,0,4144,0,0,1,348288,0,0,,,,,0,68942,0,0,0,32952,0,0 -17-43090954-A-G,17,43090954,rs778319854,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1392Ser,p.Leu1392Ser,c.4175T>C,missense_variant,Uncertain significance,578485,,5,1458224,0.0000034288284927418557,0,0,nfe,8.4e-7,27.8,0.676,0.00,-0.0200,6.31,0.00,0.0840,0,33444,0,0,0,44280,0,0,0,25924,0,0,0,39676,0,0,0,53024,0,0,0,5764,0,0,4,1110378,0,0,,,,,1,85478,0,0,0,60256,0,0 -17-43090957-A-G,17,43090957,rs397509146,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1391Thr,p.Ile1391Thr,c.4172T>C,missense_variant,Uncertain significance,55123,,2,1458710,0.0000013710744424868548,0,0,nfe,2.999999999999999e-7,26.1,0.697,0.00,0.00,6.31,0.00,0.00600,0,33446,0,0,0,44316,0,0,0,25944,0,0,0,39684,0,0,0,53104,0,0,0,5764,0,0,2,1110618,0,0,,,,,0,85562,0,0,0,60272,0,0 -17-43090959-G-A,17,43090959,rs1231201665,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1390Asp,p.Asp1390Asp,c.4170C>T,synonymous_variant,Likely benign,1159537,,7,777940,0.000008998123248579581,0,0,,,3.37,,0.0200,-0.0200,-0.663,,,0,59120,0,0,0,58634,0,0,0,24270,0,0,0,41250,0,0,6,63436,0,0,0,4460,0,0,1,416824,0,0,0,912,0,0,0,73964,0,0,0,35070,0,0 -17-43090960-T-C,17,43090960,rs1165149350,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1390Gly,p.Asp1390Gly,c.4169A>G,missense_variant,Uncertain significance,496377,,1,152204,0.000006570129562954982,0,0,,,19.4,0.535,0.0100,-0.0100,0.852,0.0300,0.0100,0,41456,0,0,1,15280,0,0,0,3470,0,0,0,5196,0,0,0,10622,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 -17-43090961-C-T,17,43090961,rs752300203,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1390Asn,p.Asp1390Asn,c.4168G>A,missense_variant,Uncertain significance,462635,,2,626000,0.000003194888178913738,0,0,,,23.0,0.335,0.0200,-0.0200,5.64,0.0100,0.0150,0,17670,0,0,0,43364,0,0,0,20810,0,0,0,36056,0,0,0,52848,0,0,0,4144,0,0,0,348940,0,0,,,,,1,69186,0,0,1,32982,0,0 -17-43090961-C-A,17,43090961,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1390Tyr,p.Asp1390Tyr,c.4168G>T,missense_variant,,,,1,626000,0.000001597444089456869,0,0,,,24.2,0.558,0.0200,-0.0300,5.64,0.00,0.119,0,17670,0,0,0,43364,0,0,0,20810,0,0,0,36056,0,0,0,52848,0,0,0,4144,0,0,0,348940,0,0,,,,,1,69186,0,0,0,32982,0,0 -17-43090962-ACT-A,17,43090962,rs80357572,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1389Ter,p.Ser1389Ter,c.4165_4166del,frameshift_variant,Pathogenic,55117,,7,1459312,0.000004796780948830682,0,0,sas,0.0000093,33.0,,0.00,0.0100,-1.99,,,0,33462,0,0,0,44368,0,0,0,25970,0,0,0,39686,0,0,0,53144,0,0,0,5764,0,0,4,1110942,0,0,,,,,3,85686,0,0,0,60290,0,0 -17-43090963-C-T,17,43090963,rs78951648,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1389Asn,p.Ser1389Asn,c.4166G>A,missense_variant,Conflicting interpretations of pathogenicity,55119,,9,1611696,0.000005584179646782023,0,0,eas,0.00008834999999999997,22.7,0.468,0.00,-0.0100,2.96,0.00,0.0530,0,75030,0,0,0,59686,0,0,0,29442,0,0,8,44876,0,0,0,63780,0,0,0,6058,0,0,0,1178976,0,0,0,912,0,0,0,90534,0,0,1,62402,0,0 -17-43090966-T-C,17,43090966,rs1246721860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1388Arg,p.Gln1388Arg,c.4163A>G,missense_variant,Uncertain significance,1020675,,7,1459724,0.000004795427080735811,0,0,nfe,0.0000026200000000000003,25.1,0.679,0.00,-0.0200,6.29,0.00,0.00100,0,33468,0,0,0,44412,0,0,0,25994,0,0,0,39690,0,0,0,53182,0,0,0,5766,0,0,7,1111144,0,0,,,,,0,85772,0,0,0,60296,0,0 -17-43090968-A-G,17,43090968,rs1410595461,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1387Ser,p.Ser1387Ser,c.4161T>C,synonymous_variant,,,,1,152230,0.000006569007422978388,0,0,,,7.02,,0.00,0.00,-0.765,,,0,41466,0,0,0,15282,0,0,0,3470,0,0,0,5196,0,0,0,10626,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43090970-A-G,17,43090970,rs876658221,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1387Pro,p.Ser1387Pro,c.4159T>C,missense_variant,Conflicting interpretations of pathogenicity,224433,,2,626916,0.000003190220061379834,0,0,nfe,9.5e-7,26.0,0.481,0.00,-0.0100,4.64,0.00,0.731,0,17680,0,0,0,43492,0,0,0,20858,0,0,0,36060,0,0,0,52912,0,0,0,4148,0,0,2,349364,0,0,,,,,0,69388,0,0,0,33014,0,0 -17-43090974-T-G,17,43090974,rs1057520245,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Leu,p.Leu1385Leu,c.4155A>C,synonymous_variant,,,,2,1460228,0.0000013696491232875963,0,0,nfe,2.999999999999999e-7,4.19,,0.00,0.00,0.295,,,0,33468,0,0,0,44490,0,0,0,26020,0,0,0,39686,0,0,0,53216,0,0,0,5768,0,0,2,1111384,0,0,,,,,0,85876,0,0,0,60320,0,0 -17-43090974-T-C,17,43090974,rs1057520245,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Leu,p.Leu1385Leu,c.4155A>G,synonymous_variant,Likely benign,377571,,2,1460228,0.0000013696491232875963,0,0,nfe,2.999999999999999e-7,4.55,,0.00,0.00,0.295,,,0,33468,0,0,0,44490,0,0,0,26020,0,0,0,39686,0,0,0,53216,0,0,0,5768,0,0,2,1111384,0,0,,,,,0,85876,0,0,0,60320,0,0 -17-43090975-A-G,17,43090975,rs1597858317,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Pro,p.Leu1385Pro,c.4154T>C,missense_variant,Uncertain significance,808279,,2,1460254,0.0000013696247365184413,0,0,nfe,2.999999999999999e-7,17.8,0.438,0.00,0.00,0.999,0.0500,0.355,0,33468,0,0,0,44490,0,0,0,26024,0,0,0,39690,0,0,0,53226,0,0,0,5768,0,0,2,1111406,0,0,,,,,0,85864,0,0,0,60318,0,0 -17-43090979-C-A,17,43090979,rs1555586146,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1384Trp,p.Gly1384Trp,c.4150G>T,missense_variant,Uncertain significance,964444,,1,627294,0.0000015941488361119348,0,0,,,21.7,0.514,0.00,-0.0100,2.37,0.00,0.215,0,17684,0,0,0,43532,0,0,0,20886,0,0,0,36050,0,0,0,52964,0,0,0,4148,0,0,1,349558,0,0,,,,,0,69440,0,0,0,33032,0,0 -17-43090983-G-A,17,43090983,rs1057517574,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1382Cys,p.Cys1382Cys,c.4146C>T,synonymous_variant,Likely benign,462633,,1,1460502,6.846960839492175e-7,0,0,,,1.13,,0.00,-0.0100,-0.765,,,0,33474,0,0,0,44520,0,0,0,26032,0,0,0,39690,0,0,0,53244,0,0,0,5768,0,0,0,1111496,0,0,,,,,0,85946,0,0,1,60332,0,0 -17-43090985-A-T,17,43090985,rs786202106,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1382Ser,p.Cys1382Ser,c.4144T>A,missense_variant,Conflicting interpretations of pathogenicity,185348,,3,1612820,0.000001860095980952617,0,0,nfe,6.800000000000001e-7,11.2,0.516,0.0100,-0.0100,-0.0630,0.480,0.00300,0,74934,0,0,0,59812,0,0,0,29510,0,0,0,44892,0,0,0,63880,0,0,0,6084,0,0,3,1179586,0,0,0,912,0,0,0,90776,0,0,0,62434,0,0 -17-43090986-G-C,17,43090986,rs1567788391,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1381Glu,p.Asp1381Glu,c.4143C>G,missense_variant,Uncertain significance,628110,,1,627500,0.000001593625498007968,0,0,,,12.2,0.608,0.0100,-0.0300,0.0160,0.130,0.00,0,17688,0,0,0,43552,0,0,0,20896,0,0,0,36058,0,0,0,52958,0,0,0,4148,0,0,1,349660,0,0,,,,,0,69494,0,0,0,33046,0,0 -17-43090990-TCA-T,17,43090990,rs886040209,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1380ArgfsTer10,p.Glu1380ArgfsTer10,c.4137_4138del,frameshift_variant,Pathogenic,266451,,1,627566,0.000001593457899248844,0,0,,,32.0,,0.0300,-0.0300,2.34,,,0,17688,0,0,0,43564,0,0,0,20896,0,0,0,36060,0,0,0,52984,0,0,0,4148,0,0,0,349678,0,0,,,,,0,69500,0,0,1,33048,0,0 -17-43090991-C-T,17,43090991,rs2053439893,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1380Lys,p.Glu1380Lys,c.4138G>A,missense_variant,,,,1,627516,0.0000015935848647683883,0,0,,,24.4,0.504,0.0800,-0.0500,4.80,0.170,0.0380,0,17688,0,0,0,43562,0,0,0,20894,0,0,0,36060,0,0,0,52978,0,0,0,4148,0,0,1,349642,0,0,,,,,0,69498,0,0,0,33046,0,0 -17-43090992-A-G,17,43090992,rs1057521866,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1379Ser,p.Ser1379Ser,c.4137T>C,synonymous_variant,Likely benign,384118,,1,627524,0.0000015935645489256188,0,0,,,8.50,,0.00,-0.0100,-0.0100,,,0,17686,0,0,0,43568,0,0,0,20898,0,0,0,36060,0,0,0,52980,0,0,0,4148,0,0,1,349652,0,0,,,,,0,69490,0,0,0,33042,0,0 -17-43090995-G-A,17,43090995,rs1597858410,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1378Val,p.Val1378Val,c.4134C>T,synonymous_variant,Likely benign,763267,,3,779744,0.000003847416588008372,0,0,eas,0.00001928,4.56,,0.0100,-0.0100,0.404,,,0,59128,0,0,0,58844,0,0,0,24360,0,0,3,41258,0,0,0,63570,0,0,0,4464,0,0,0,417724,0,0,0,912,0,0,0,74354,0,0,0,35130,0,0 -17-43090997-C-T,17,43090997,rs28897690,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1378Ile,p.Val1378Ile,c.4132G>A,missense_variant,Benign,55111,,164,1612732,0.00010169079549484973,1,0,amr,0.0012379499999999998,0.0300,0.497,0.00,0.00,-0.329,0.400,0.00,1,74898,0,0,89,59814,1,0,1,29506,0,0,1,44890,0,0,0,63834,0,0,4,6084,0,0,61,1179578,0,0,0,912,0,0,5,90788,0,0,2,62428,0,0 -17-43090997-C-A,17,43090997,rs28897690,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1378Phe,p.Val1378Phe,c.4132G>T,missense_variant,Uncertain significance,482891,,2,152132,0.00001314647805852812,0,0,afr,0.00000443,0.119,0.544,0.00,-0.0100,-0.329,0.380,0.00,2,41424,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10598,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 -17-43090998-G-A,17,43090998,rs80356871,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1377Ser,p.Ser1377Ser,c.4131C>T,synonymous_variant,Likely benign,184408,,10,1460588,0.000006846557687725765,0,0,amr,0.000007440000000000001,4.59,,0.0100,-0.0100,0.601,,,1,33474,0,0,2,44548,0,0,0,26040,0,0,0,39690,0,0,0,53234,0,0,0,5768,0,0,7,1111538,0,0,,,,,0,85958,0,0,0,60338,0,0 -17-43090998-G-T,17,43090998,rs80356871,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1377Arg,p.Ser1377Arg,c.4131C>A,missense_variant,Uncertain significance,55110,,2,1460590,0.0000013693096625336336,0,0,sas,0.00000386,19.6,0.521,0.0100,-0.0100,0.601,0.00,0.767,0,33474,0,0,0,44548,0,0,0,26040,0,0,0,39690,0,0,0,53236,0,0,0,5768,0,0,0,1111538,0,0,,,,,2,85958,0,0,0,60338,0,0 -17-43091000-T-C,17,43091000,rs730881491,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1377Gly,p.Ser1377Gly,c.4129A>G,missense_variant,Uncertain significance,182159,,4,152184,0.000026283972033853757,0,0,afr,0.00003249,16.9,0.455,0.00,-0.0100,-0.429,0.0300,0.265,4,41442,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10608,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43091002-G-C,17,43091002,rs80356986,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1376Arg,p.Thr1376Arg,c.4127C>G,missense_variant,Conflicting interpretations of pathogenicity,37571,,23,1612798,0.000014260930383098194,0,0,nfe,0.00001221,23.9,0.506,0.00,-0.0100,8.54,0.00,0.0790,0,74912,0,0,0,59814,0,0,0,29504,0,0,0,44882,0,0,0,63860,0,0,0,6084,0,0,22,1179604,0,0,0,912,0,0,0,90792,0,0,1,62434,0,0 -17-43091003-T-C,17,43091003,rs576828558,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1376Ala,p.Thr1376Ala,c.4126A>G,missense_variant,Uncertain significance,824612,,2,779806,0.00000256474046108904,0,0,,,13.4,0.568,0.00,0.00,-0.188,0.420,0.0380,0,59252,0,0,0,58854,0,0,0,24356,0,0,2,41240,0,0,0,63592,0,0,0,4440,0,0,0,417694,0,0,0,912,0,0,0,74308,0,0,0,35158,0,0 -17-43091007-A-C,17,43091007,rs1555586200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Arg,p.Ser1374Arg,c.4122T>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,23.6,0.577,0.0300,-0.0400,1.08,0.00,0.153,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091007-ACT-A,17,43091007,rs80357787,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Ter,p.Ser1374Ter,c.4120_4121del,frameshift_variant,Pathogenic,37570,,1,833110,0.0000012003216862119048,0,0,,,29.1,,0.00,0.0100,1.08,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091008-C-A,17,43091008,rs1382449149,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Ile,p.Ser1374Ile,c.4121G>T,missense_variant,,,,1,1460540,6.846782696810769e-7,0,0,,,22.6,0.611,0.00,-0.0100,1.68,0.00,0.360,0,33472,0,0,0,44540,0,0,0,26030,0,0,0,39688,0,0,0,53230,0,0,0,5768,0,0,1,1111522,0,0,,,,,0,85946,0,0,0,60344,0,0 -17-43091008-C-T,17,43091008,rs1382449149,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1374Asn,p.Ser1374Asn,c.4121G>A,missense_variant,Uncertain significance,583140,,3,1612748,0.0000018601790236292341,0,0,nfe,6.800000000000001e-7,17.1,0.523,0.00,0.00,1.68,0.0300,0.150,0,74930,0,0,0,59814,0,0,0,29502,0,0,0,44888,0,0,0,63850,0,0,0,6084,0,0,3,1179562,0,0,0,910,0,0,0,90776,0,0,0,62432,0,0 -17-43091010-C-A,17,43091010,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1373Asp,p.Glu1373Asp,c.4119G>T,missense_variant,,,,1,627458,0.0000015937321701213467,0,0,,,1.21,0.553,0.0100,-0.0100,0.0170,0.460,0.00600,0,17686,0,0,0,43556,0,0,0,20886,0,0,0,36052,0,0,0,52946,0,0,0,4148,0,0,1,349650,0,0,,,,,0,69484,0,0,0,33050,0,0 -17-43091012-C-A,17,43091012,rs80357259,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1373Ter,p.Glu1373Ter,c.4117G>T,stop_gained,Pathogenic,37569,,1,627396,0.000001593889664581859,0,0,,,34.0,,0.0500,-0.100,4.20,,,0,17684,0,0,0,43538,0,0,0,20878,0,0,0,36054,0,0,0,52966,0,0,0,4148,0,0,0,349612,0,0,,,,,0,69472,0,0,1,33044,0,0 -17-43091014-C-T,17,43091014,rs55848034,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1372Tyr,p.Cys1372Tyr,c.4115G>A,missense_variant,Conflicting interpretations of pathogenicity,55105,,9,1612666,0.000005580820827127254,0,0,nfe,6.800000000000001e-7,5.03,0.445,0.00,0.00,2.28,1.00,0.00,0,74934,0,0,0,59812,0,0,5,29492,0,0,0,44882,0,0,0,63838,0,0,0,6082,0,0,3,1179540,0,0,0,912,0,0,0,90748,0,0,1,62426,0,0 -17-43091015-AC-A,17,43091015,rs80357861,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1372ValfsTer21,p.Cys1372ValfsTer21,c.4113del,frameshift_variant,Pathogenic,125680,,1,1460458,6.847167121546802e-7,0,0,,,22.6,,0.00,-0.0200,1.36,,,0,33470,0,0,0,44530,0,0,0,26018,0,0,0,39686,0,0,0,53232,0,0,0,5768,0,0,1,1111502,0,0,,,,,0,85912,0,0,0,60340,0,0 -17-43091015-A-G,17,43091015,rs1156932020,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1372Arg,p.Cys1372Arg,c.4114T>C,missense_variant,,,,1,1460458,6.847167121546802e-7,0,0,,,21.4,0.444,0.00,-0.0100,1.36,0.00,0.00,0,33470,0,0,0,44530,0,0,0,26018,0,0,0,39686,0,0,0,53232,0,0,0,5768,0,0,1,1111502,0,0,,,,,0,85912,0,0,0,60340,0,0 -17-43091016-C-T,17,43091016,rs147448807,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1371Gly,p.Gly1371Gly,c.4113G>A,synonymous_variant,Likely benign,136547,,421,1612698,0.0002610532164112562,1,0,afr,0.00418506,1.90,,0.0100,0.0100,-0.00500,,,344,75040,1,0,24,59824,0,0,0,29482,0,0,0,44864,0,0,0,63840,0,0,3,6062,0,0,11,1179488,0,0,0,912,0,0,0,90736,0,0,39,62450,0,0 -17-43091018-C-T,17,43091018,rs774593602,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1371Arg,p.Gly1371Arg,c.4111G>A,missense_variant,Conflicting interpretations of pathogenicity,630121,,3,627194,0.000004783209023045501,0,0,nfe,9.5e-7,21.1,0.499,0.0100,-0.0100,2.54,0.0200,0.105,0,17678,0,0,0,43530,0,0,0,20868,0,0,0,36052,0,0,0,52920,0,0,0,4148,0,0,2,349526,0,0,,,,,1,69434,0,0,0,33038,0,0 -17-43091018-C-G,17,43091018,rs774593602,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1371Arg,p.Gly1371Arg,c.4111G>C,missense_variant,Uncertain significance,185744,,1,627194,0.0000015944030076818337,0,0,,,20.1,0.499,0.00,-0.0100,2.54,0.0200,0.105,0,17678,0,0,0,43530,0,0,0,20868,0,0,0,36052,0,0,0,52920,0,0,0,4148,0,0,1,349526,0,0,,,,,0,69434,0,0,0,33038,0,0 -17-43091020-G-C,17,43091020,rs2154258345,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1370Cys,p.Ser1370Cys,c.4109C>G,missense_variant,,,,1,1460214,6.848311274922717e-7,0,0,,,22.9,0.435,0.0200,-0.0200,0.960,0.00,0.430,0,33466,0,0,0,44500,0,0,0,26018,0,0,0,39682,0,0,0,53166,0,0,0,5768,0,0,1,1111408,0,0,,,,,0,85874,0,0,0,60332,0,0 -17-43091021-A-G,17,43091021,rs2154258415,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1370Pro,p.Ser1370Pro,c.4108T>C,missense_variant,Uncertain significance,2125868,,1,1460178,6.848480116807677e-7,0,0,,,25.2,0.490,0.00,0.00,1.79,0.00,0.133,0,33466,0,0,0,44486,0,0,0,26016,0,0,0,39684,0,0,0,53208,0,0,0,5768,0,0,1,1111376,0,0,,,,,0,85840,0,0,0,60334,0,0 -17-43091023-G-A,17,43091023,rs762028824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1369Val,p.Ala1369Val,c.4106C>T,missense_variant,,,,1,626876,0.0000015952118122244272,0,0,,,22.7,0.501,0.0200,-0.0100,2.35,0.0200,0.00,0,17680,0,0,0,43492,0,0,0,20846,0,0,0,36050,0,0,0,52886,0,0,0,4148,0,0,0,349378,0,0,,,,,1,69364,0,0,0,33032,0,0 -17-43091025-T-C,17,43091025,rs2154258767,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Ala,p.Ala1368Ala,c.4104A>G,synonymous_variant,Likely benign,1200038,,1,626724,0.0000015955987005444183,0,0,,,8.88,,0.00,0.00,0.251,,,0,17678,0,0,0,43460,0,0,0,20836,0,0,0,36050,0,0,0,52902,0,0,0,4146,0,0,0,349280,0,0,,,,,1,69344,0,0,0,33028,0,0 -17-43091026-G-A,17,43091026,rs1385360559,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1368Val,p.Ala1368Val,c.4103C>T,missense_variant,Uncertain significance,824595,,7,1611848,0.000004342841260466247,0,0,sas,0.000028750000000000004,11.3,0.537,0.0500,-0.0400,-0.637,0.250,0.00500,0,74900,0,0,0,59706,0,0,0,29466,0,0,0,44872,0,0,0,63740,0,0,0,6084,0,0,0,1179140,0,0,0,910,0,0,6,90614,0,0,1,62416,0,0 -17-43091026-G-C,17,43091026,rs1385360559,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Gly,p.Ala1368Gly,c.4103C>G,missense_variant,,,,1,1459672,6.85085416449723e-7,0,0,,,18.8,0.578,0.0100,0.0200,-0.637,0.0300,0.00300,0,33462,0,0,0,44432,0,0,0,25994,0,0,0,39680,0,0,0,53122,0,0,0,5768,0,0,1,1111102,0,0,,,,,0,85784,0,0,0,60328,0,0 -17-43091027-C-T,17,43091027,rs1064796463,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Thr,p.Ala1368Thr,c.4102G>A,missense_variant,Uncertain significance,423494,,1,626546,0.0000015960520057585556,0,0,,,17.1,0.471,0.0100,0.0100,2.04,0.0900,0.00900,0,17672,0,0,0,43446,0,0,0,20832,0,0,0,36048,0,0,0,52886,0,0,0,4148,0,0,1,349182,0,0,,,,,0,69312,0,0,0,33020,0,0 -17-43091028-T-G,17,43091028,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1367Asp,p.Glu1367Asp,c.4101A>C,missense_variant,,,,1,1459572,6.851323538681202e-7,0,0,,,23.0,0.479,0.00,0.00,1.80,0.0600,0.00700,0,33460,0,0,0,44422,0,0,0,25974,0,0,0,39676,0,0,0,53160,0,0,0,5768,0,0,0,1111042,0,0,,,,,1,85750,0,0,0,60320,0,0 -17-43091032-C-T,17,43091032,rs876660948,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1366Asp,p.Gly1366Asp,c.4097G>A,missense_variant,Uncertain significance,234236,,3,1458844,0.0000020564227566484146,0,0,nfe,2.999999999999999e-7,17.4,0.560,0.120,-0.0600,0.164,0.250,0.00100,0,33448,0,0,0,44326,0,0,0,25958,0,0,0,39666,0,0,0,53074,0,0,0,5768,0,0,2,1110646,0,0,,,,,0,85664,0,0,1,60294,0,0 -17-43091034-T-C,17,43091034,rs80358019,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-2A>G,,c.4097-2A>G,splice_acceptor_variant,Pathogenic,55103,,2,777696,0.000002571698967205695,0,0,,,35.0,,0.980,0.870,6.33,,,0,59120,0,0,0,58602,0,0,0,24274,0,0,0,41232,0,0,2,63386,0,0,0,4464,0,0,0,416650,0,0,0,912,0,0,0,73980,0,0,0,35076,0,0 -17-43091038-A-C,17,43091038,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-6T>G,,c.4097-6T>G,splice_region_variant,,,,1,833026,0.0000012004427232763443,0,0,,,22.9,,0.760,-0.760,1.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761828,0,0,,,,,0,16460,0,0,0,27292,0,0 -17-43091039-T-C,17,43091039,rs80358007,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-7A>G,,c.4097-7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,125677,,2,624784,0.000003201106302338088,0,0,nfe,9.6e-7,0.519,,0.00,0.0100,-0.591,,,0,17662,0,0,0,43240,0,0,0,20766,0,0,0,36028,0,0,0,52732,0,0,0,4144,0,0,2,348208,0,0,,,,,0,69038,0,0,0,32966,0,0 -17-43091039-T-A,17,43091039,rs80358007,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-7A>T,,c.4097-7A>T,splice_region_variant,Uncertain significance,918216,,1,624784,0.000001600553151169044,0,0,,,0.413,,0.00,0.0100,-0.591,,,0,17662,0,0,1,43240,0,0,0,20766,0,0,0,36028,0,0,0,52732,0,0,0,4144,0,0,0,348208,0,0,,,,,0,69038,0,0,0,32966,0,0 -17-43091040-A-G,17,43091040,rs1555586287,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-8T>C,,c.4097-8T>C,splice_region_variant,Likely benign,514894,,2,624628,0.0000032019057743168735,0,0,,,5.08,,0.00,0.00,-0.703,,,0,17662,0,0,0,43232,0,0,0,20760,0,0,0,36026,0,0,0,52704,0,0,2,4146,0,0,0,348134,0,0,,,,,0,69000,0,0,0,32964,0,0 -17-43091042-C-T,17,43091042,rs80358057,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-10G>A,,c.4097-10G>A,intron_variant,Benign,125672,,18,1608984,0.000011187183962053073,0,0,nfe,0.00000765,0.728,,0.00,0.00,-1.03,,,0,74858,0,0,2,59458,0,0,0,29360,0,0,0,44832,0,0,0,63512,0,0,0,6080,0,0,15,1177448,0,0,0,912,0,0,0,90222,0,0,1,62302,0,0 -17-43091042-C-A,17,43091042,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-10G>T,,c.4097-10G>T,intron_variant,,,,1,1456824,6.864247156828828e-7,0,0,,,0.345,,0.00,0.0100,-1.03,,,0,33430,0,0,0,44176,0,0,0,25890,0,0,0,39638,0,0,0,52902,0,0,0,5764,0,0,1,1109418,0,0,,,,,0,85392,0,0,0,60214,0,0 -17-43091042-CA-C,17,43091042,rs2154259579,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-11del,,c.4097-11del,intron_variant,Benign,1599899,,1,1456824,6.864247156828828e-7,0,0,,,0.426,,0.0200,0.0100,-1.03,,,0,33430,0,0,0,44176,0,0,0,25890,0,0,0,39638,0,0,0,52902,0,0,0,5764,0,0,1,1109418,0,0,,,,,0,85392,0,0,0,60214,0,0 -17-43091043-A-G,17,43091043,rs80358072,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-11T>C,,c.4097-11T>C,intron_variant,Benign,125673,,7,1608798,0.000004351074528934024,0,0,eas,0.000007390000000000001,4.88,,0.0200,-0.0300,-0.0600,,,0,74894,0,0,0,59418,0,0,0,29356,0,0,2,44834,0,0,0,63490,0,0,0,6078,0,0,1,1177340,0,0,0,912,0,0,1,90182,0,0,3,62294,0,0 -17-43091046-AAC-A,17,43091046,,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16_4097-15del,,c.4097-16_4097-15del,intron_variant,Likely benign,2056079,,2,832550,0.000002402258122635277,0,0,nfe,4.4e-7,3.01,,0.0100,-0.0100,-0.812,,,0,15768,0,0,0,984,0,0,0,5144,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,2,761412,0,0,,,,,0,16450,0,0,0,27270,0,0 -17-43091048-C-G,17,43091048,rs1555586303,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16G>C,,c.4097-16G>C,intron_variant,Likely benign,1627563,,13,1453636,0.000008943091668065458,0,0,nfe,0.00000655,1.40,,0.00,0.00,-0.0340,,,0,33402,0,0,0,43878,0,0,0,25804,0,0,0,39610,0,0,0,52636,0,0,0,5760,0,0,13,1107400,0,0,,,,,0,85064,0,0,0,60082,0,0 -17-43091048-C-T,17,43091048,rs1555586303,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16G>A,,c.4097-16G>A,intron_variant,Likely benign,531492,,1,1453636,6.879301283127276e-7,0,0,,,2.29,,0.0100,-0.0100,-0.0340,,,1,33402,0,0,0,43878,0,0,0,25804,0,0,0,39610,0,0,0,52636,0,0,0,5760,0,0,0,1107400,0,0,,,,,0,85064,0,0,0,60082,0,0 -17-43091052-G-A,17,43091052,rs80358169,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-20C>T,,c.4097-20C>T,intron_variant,Benign/Likely benign,125675,,8,983136,0.000008137226182338965,0,0,nfe,0.0000026100000000000004,4.36,,0.00,0.00,0.441,,,0,57158,0,0,0,16256,0,0,0,8608,0,0,1,8814,0,0,0,10868,0,0,0,1934,0,0,6,828030,0,0,0,912,0,0,0,21244,0,0,1,29312,0,0 -17-43091053-G-C,17,43091053,rs1567788670,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-21C>G,,c.4097-21C>G,intron_variant,,,,1,1450776,6.892862854086365e-7,0,0,,,4.89,,0.0200,-0.0200,0.281,,,0,33354,0,0,0,43720,0,0,0,25768,0,0,0,39586,0,0,0,52496,0,0,0,5758,0,0,0,1105256,0,0,,,,,1,84872,0,0,0,59966,0,0 -17-43091057-A-G,17,43091057,rs773630860,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-25T>C,,c.4097-25T>C,intron_variant,,,,4,1445062,0.000002768047322537026,0,0,nfe,7.3e-7,5.99,,0.0300,-0.0200,0.508,,,0,33266,0,0,1,43348,0,0,0,25724,0,0,0,39506,0,0,0,52290,0,0,0,5744,0,0,3,1100886,0,0,,,,,0,84514,0,0,0,59784,0,0 -17-43091057-A-T,17,43091057,rs773630860,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-25T>A,,c.4097-25T>A,intron_variant,,,,1,1445062,6.920118306342565e-7,0,0,,,6.49,,0.0300,-0.0300,0.508,,,0,33266,0,0,1,43348,0,0,0,25724,0,0,0,39506,0,0,0,52290,0,0,0,5744,0,0,0,1100886,0,0,,,,,0,84514,0,0,0,59784,0,0 -17-43091058-G-A,17,43091058,rs2154259929,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-26C>T,,c.4097-26C>T,intron_variant,,,,1,1444880,6.920989978406512e-7,0,0,,,6.13,,0.0100,0.00,0.235,,,0,33258,0,0,0,43346,0,0,0,25718,0,0,0,39512,0,0,0,52284,0,0,0,5740,0,0,0,1100704,0,0,,,,,0,84536,0,0,1,59782,0,0 -17-43091058-G-T,17,43091058,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-26C>A,,c.4097-26C>A,intron_variant,,,,1,1444880,6.920989978406512e-7,0,0,,,5.64,,0.0100,-0.0100,0.235,,,0,33258,0,0,0,43346,0,0,0,25718,0,0,0,39512,0,0,0,52284,0,0,0,5740,0,0,1,1100704,0,0,,,,,0,84536,0,0,0,59782,0,0 -17-43091060-T-C,17,43091060,rs869320777,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-28A>G,,c.4097-28A>G,intron_variant,Benign/Likely benign,225708,,78,1595680,0.00004888198134964404,0,0,nfe,0.00004997,5.75,,0.00,0.00,0.696,,,1,74662,0,0,0,58574,0,0,0,29178,0,0,0,44702,0,0,0,62812,0,0,0,6064,0,0,72,1167748,0,0,0,912,0,0,0,89218,0,0,5,61810,0,0 -17-43091060-T-A,17,43091060,rs869320777,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4097-28A>T,,c.4097-28A>T,intron_variant,,,,2,152200,0.00001314060446780552,0,0,,,4.97,,0.00,0.00,0.696,,,0,41454,0,0,0,15282,0,0,0,3470,0,0,0,5196,0,0,2,10612,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43091060-T-G,17,43091060,rs869320777,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-28A>C,,c.4097-28A>C,intron_variant,,,,2,1595680,0.00000125338413717036,0,0,,,5.32,,0.00,-0.0100,0.696,,,0,74662,0,0,2,58574,0,0,0,29178,0,0,0,44702,0,0,0,62812,0,0,0,6064,0,0,0,1167748,0,0,0,912,0,0,0,89218,0,0,0,61810,0,0 -17-43091061-G-A,17,43091061,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-29C>T,,c.4097-29C>T,intron_variant,,,,1,1440404,6.942496688429079e-7,0,0,,,0.892,,0.00,0.00,-0.152,,,0,33160,0,0,0,43164,0,0,0,25686,0,0,0,39452,0,0,0,52070,0,0,0,5744,0,0,1,1097298,0,0,,,,,0,84248,0,0,0,59582,0,0 -17-43091066-A-C,17,43091066,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-34T>G,,c.4097-34T>G,intron_variant,,,,1,611706,0.0000016347722598764765,0,0,,,0.768,,0.00,0.00,-0.390,,,0,17488,0,0,0,41718,0,0,0,20520,0,0,0,35738,0,0,0,51422,0,0,0,4132,0,0,1,340722,0,0,,,,,0,67556,0,0,0,32410,0,0 -17-43091068-C-T,17,43091068,rs1250083831,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-36G>A,,c.4097-36G>A,intron_variant,,,,14,1578192,0.000008870910510254773,0,0,nfe,0.000007040000000000001,1.92,,0.00,0.00,0.268,,,0,74318,0,0,0,57808,0,0,0,29014,0,0,0,44458,0,0,0,62122,0,0,0,6044,0,0,14,1153950,0,0,0,912,0,0,0,88376,0,0,0,61190,0,0 -17-43091069-A-G,17,43091069,rs2154260071,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-37T>C,,c.4097-37T>C,intron_variant,,,,1,812864,0.0000012302180930635382,0,0,,,3.34,,0.00,0.00,0.182,,,0,15346,0,0,0,950,0,0,0,5030,0,0,0,3520,0,0,0,274,0,0,0,1592,0,0,1,743516,0,0,,,,,0,16012,0,0,0,26624,0,0 -17-43091069-A-C,17,43091069,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-37T>G,,c.4097-37T>G,intron_variant,,,,1,812864,0.0000012302180930635382,0,0,,,3.10,,0.00,0.00,0.182,,,0,15346,0,0,0,950,0,0,0,5030,0,0,0,3520,0,0,0,274,0,0,0,1592,0,0,1,743516,0,0,,,,,0,16012,0,0,0,26624,0,0 -17-43091071-A-C,17,43091071,rs760464287,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-39T>G,,c.4097-39T>G,intron_variant,,,,3,606458,0.000004946756411820769,0,0,eas,0.00002236,6.24,,0.00,0.00,-0.243,,,0,17382,0,0,0,40912,0,0,0,20468,0,0,3,35558,0,0,0,50850,0,0,0,4128,0,0,0,337938,0,0,,,,,0,67040,0,0,0,32182,0,0 -17-43091074-A-G,17,43091074,rs2154260177,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-42T>C,,c.4097-42T>C,intron_variant,,,,1,1390158,7.193426934204601e-7,0,0,,,3.36,,0.00,-0.0100,-0.0750,,,0,32156,0,0,0,41344,0,0,0,25304,0,0,0,38826,0,0,0,50774,0,0,0,5650,0,0,1,1055986,0,0,,,,,0,82260,0,0,0,57858,0,0 -17-43091079-C-T,17,43091079,rs766094343,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-47G>A,,c.4097-47G>A,intron_variant,,,,8,1515158,0.000005279977401696721,0,0,nfe,0.0000031200000000000006,1.08,,0.00,0.00,0.0920,,,0,73002,0,0,0,55728,0,0,0,28626,0,0,0,43642,0,0,0,60766,0,0,0,5906,0,0,8,1101450,0,0,0,912,0,0,0,86162,0,0,0,58964,0,0 -17-43091080-G-A,17,43091080,rs776594341,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-48C>T,,c.4097-48C>T,intron_variant,,,,17,1478414,0.000011498808858682345,0,0,amr,0.00003518999999999999,2.63,,0.00,0.00,-0.367,,,0,72250,0,0,5,54538,0,0,0,28386,0,0,0,43146,0,0,0,59682,0,0,0,5840,0,0,8,1070982,0,0,0,912,0,0,0,84896,0,0,4,57782,0,0 -17-43091083-G-A,17,43091083,rs2154260358,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-51C>T,,c.4097-51C>T,intron_variant,,,,3,1333690,0.000002249398285958506,0,0,nfe,3.3e-7,0.0590,,0.00,0.00,-1.69,,,0,30992,0,0,1,39360,0,0,0,24938,0,0,0,38014,0,0,0,49076,0,0,0,5540,0,0,2,1009662,0,0,,,,,0,80166,0,0,0,55942,0,0 -17-43091084-C-T,17,43091084,rs2053452017,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-52G>A,,c.4097-52G>A,intron_variant,,,,2,742714,0.000002692826579275468,0,0,,,0.235,,0.00,0.00,0.147,,,0,58520,0,0,0,53812,0,0,0,23808,0,0,1,40024,0,0,0,59540,0,0,0,4412,0,0,1,397534,0,0,0,912,0,0,0,70426,0,0,0,33726,0,0 -17-43091086-A-G,17,43091086,rs2154260414,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-54T>C,,c.4097-54T>C,intron_variant,,,,4,588694,0.000006794701491776712,0,0,amr,0.00003536999999999999,2.94,,0.00,0.00,-0.00400,,,0,17032,0,0,4,38236,0,0,0,20336,0,0,0,34746,0,0,0,48696,0,0,0,4096,0,0,0,328536,0,0,,,,,0,65452,0,0,0,31564,0,0 -17-43091087-C-T,17,43091087,rs2154260440,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-55G>A,,c.4097-55G>A,intron_variant,,,,2,1305756,0.0000015316797318947797,0,0,sas,0.00000418,5.31,,0.00,0.00,0.178,,,0,30328,0,0,0,38582,0,0,0,24736,0,0,0,37586,0,0,0,48414,0,0,0,5488,0,0,0,986302,0,0,,,,,2,79384,0,0,0,54936,0,0 -17-43091089-T-C,17,43091089,rs1472365336,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4097-57A>G,,c.4097-57A>G,intron_variant,,,,1,152206,0.000006570043230884459,0,0,,,8.96,,0.00,0.00,0.0620,,,0,41452,0,0,0,15282,0,0,0,3472,0,0,0,5194,0,0,0,10616,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43091090-G-A,17,43091090,rs2154260484,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-58C>T,,c.4097-58C>T,intron_variant,,,,1,1307682,7.647119100821147e-7,0,0,,,2.92,,0.0100,0.0600,0.449,,,0,30344,0,0,0,38606,0,0,0,24758,0,0,0,37594,0,0,0,48306,0,0,0,5492,0,0,1,988150,0,0,,,,,0,79402,0,0,0,55030,0,0 -17-43091090-G-T,17,43091090,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-58C>A,,c.4097-58C>A,intron_variant,,,,2,1307678,0.000001529428498452983,0,0,afr,0.00001091,2.33,,0.00,0.00,0.449,,,2,30344,0,0,0,38606,0,0,0,24758,0,0,0,37594,0,0,0,48306,0,0,0,5492,0,0,0,988146,0,0,,,,,0,79402,0,0,0,55030,0,0 -17-43091091-CTG-C,17,43091091,rs1343420727,CTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-61_4097-60del,,c.4097-61_4097-60del,intron_variant,,,,4,1307880,0.0000030583845612747347,0,0,,,0.0280,,0.00,0.00,-0.261,,,0,30336,0,0,1,38528,0,0,0,24766,0,0,0,37530,0,0,0,48218,0,0,0,5494,0,0,0,988652,0,0,,,,,0,79338,0,0,3,55018,0,0 -17-43091093-G-T,17,43091093,rs273900722,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-61C>A,,c.4097-61C>A,intron_variant,Uncertain significance,125676,,4,734934,0.000005442665599904209,0,0,nfe,0.00000338,0.0740,,0.00,0.00,-1.09,,,0,58284,0,0,0,52604,0,0,0,23746,0,0,0,39532,0,0,0,58296,0,0,0,4406,0,0,4,393866,0,0,0,912,0,0,0,69814,0,0,0,33474,0,0 -17-43091094-T-A,17,43091094,rs1273737309,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-62A>T,,c.4097-62A>T,intron_variant,,,,2,1282036,0.0000015600185954216573,0,0,nfe,3.399999999999999e-7,0.452,,0.00,0.00,-1.25,,,0,29788,0,0,0,37942,0,0,0,24532,0,0,0,37198,0,0,0,47666,0,0,0,5440,0,0,2,966814,0,0,,,,,0,78576,0,0,0,54080,0,0 -17-43091094-T-C,17,43091094,rs1273737309,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-62A>G,,c.4097-62A>G,intron_variant,,,,3,1282036,0.000002340027893132486,0,0,,,0.612,,0.00,0.00,-1.25,,,0,29788,0,0,0,37942,0,0,0,24532,0,0,0,37198,0,0,0,47666,0,0,3,5440,0,0,0,966814,0,0,,,,,0,78576,0,0,0,54080,0,0 -17-43091095-G-A,17,43091095,rs2154260570,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-63C>T,,c.4097-63C>T,intron_variant,,,,1,1281266,7.804780584203436e-7,0,0,,,0.707,,0.00,0.00,-1.03,,,0,29788,0,0,0,37938,0,0,0,24542,0,0,0,37150,0,0,0,47570,0,0,0,5430,0,0,1,966240,0,0,,,,,0,78526,0,0,0,54082,0,0 -17-43091096-T-A,17,43091096,rs2053452775,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-64A>T,,c.4097-64A>T,intron_variant,,,,2,1413398,0.0000014150295953439865,0,0,,,0.272,,0.00,0.00,-1.04,,,0,70766,0,0,0,52838,0,0,0,27902,0,0,0,42088,0,0,0,57742,0,0,0,5716,0,0,1,1017126,0,0,0,912,0,0,0,82824,0,0,1,55484,0,0 -17-43091098-T-C,17,43091098,rs1188952120,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*233A>G,,c.*233A>G,3_prime_UTR_variant,,,,14,1410154,0.00000992799368012288,0,0,nfe,0.00000801,6.77,,0.00,0.00,-0.185,,,0,70674,0,0,0,52822,0,0,0,27864,0,0,0,42032,0,0,0,57592,0,0,0,5716,0,0,14,1014368,0,0,0,912,0,0,0,82788,0,0,0,55386,0,0 -17-43091100-T-C,17,43091100,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*231A>G,,c.*231A>G,3_prime_UTR_variant,,,,1,1225558,8.159548548497909e-7,0,0,,,7.94,,0.00,0.0100,0.853,,,0,28538,0,0,0,37156,0,0,0,24208,0,0,0,36498,0,0,0,46390,0,0,0,5316,0,0,0,918148,0,0,,,,,1,77054,0,0,0,52250,0,0 -17-43091101-T-C,17,43091101,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*230A>G,,c.*230A>G,3_prime_UTR_variant,,,,1,650288,0.0000015377801835494427,0,0,,,0.176,,0.00,0.00,-0.132,,,0,11938,0,0,0,768,0,0,0,3996,0,0,0,2704,0,0,0,218,0,0,0,1244,0,0,1,595642,0,0,,,,,0,12660,0,0,0,21118,0,0 -17-43091102-T-C,17,43091102,rs2154260629,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*229A>G,,c.*229A>G,3_prime_UTR_variant,,,,1,1226500,8.153281695882593e-7,0,0,,,7.81,,0.00,0.00,0.817,,,0,28540,0,0,0,37138,0,0,0,24202,0,0,0,36510,0,0,0,46396,0,0,0,5320,0,0,1,919060,0,0,,,,,0,77052,0,0,0,52282,0,0 -17-43091104-T-C,17,43091104,rs2154260681,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*227A>G,,c.*227A>G,3_prime_UTR_variant,,,,1,1211688,8.252949604188537e-7,0,0,,,10.6,,0.00,0.00,0.863,,,0,28174,0,0,0,36896,0,0,0,24114,0,0,0,36292,0,0,0,45932,0,0,0,5268,0,0,1,906616,0,0,,,,,0,76612,0,0,0,51784,0,0 -17-43091261-T-C,17,43091261,rs2154262301,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*70A>G,,c.*70A>G,3_prime_UTR_variant,,,,2,755580,0.0000026469731861616242,0,0,nfe,6.499999999999999e-7,3.77,,0.00,0.0100,-0.192,,,0,18546,0,0,0,31746,0,0,0,20568,0,0,0,32892,0,0,0,37320,0,0,0,3344,0,0,2,509678,0,0,,,,,0,64660,0,0,0,36826,0,0 -17-43091262-G-C,17,43091262,rs1430559566,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*69C>G,,c.*69C>G,3_prime_UTR_variant,,,,5,915664,0.00000546051826870992,0,0,nfe,0.0000025100000000000005,0.0980,,0.00,0.00,-0.238,,,0,60148,0,0,0,47164,0,0,0,24120,0,0,0,38144,0,0,0,48014,0,0,0,3688,0,0,5,584506,0,0,0,912,0,0,0,69762,0,0,0,39206,0,0 -17-43091262-G-A,17,43091262,rs1430559566,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*69C>T,,c.*69C>T,3_prime_UTR_variant,,,,1,763440,0.0000013098606308288798,0,0,,,0.120,,0.00,0.00,-0.238,,,0,18684,0,0,1,31898,0,0,0,20648,0,0,0,32944,0,0,0,37394,0,0,0,3372,0,0,0,516456,0,0,,,,,0,64930,0,0,0,37114,0,0 -17-43091263-T-G,17,43091263,,T,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*68A>C,,c.*68A>C,3_prime_UTR_variant,,,,1,763830,0.0000013091918358797115,0,0,,,1.78,,0.00,0.00,0.0420,,,0,18650,0,0,0,31776,0,0,0,20652,0,0,0,32956,0,0,0,37526,0,0,0,3404,0,0,0,516892,0,0,,,,,1,64822,0,0,0,37152,0,0 -17-43091264-G-C,17,43091264,rs906236078,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*67C>G,,c.*67C>G,3_prime_UTR_variant,,,,6,931842,0.000006438859806705429,0,0,afr,0.00004259999999999998,0.453,,0.00,0.00,-0.0400,,,6,60396,0,0,0,47182,0,0,0,24260,0,0,0,38236,0,0,0,48248,0,0,0,3776,0,0,0,599032,0,0,0,912,0,0,0,70000,0,0,0,39800,0,0 -17-43091266-G-T,17,43091266,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*65C>A,,c.*65C>A,3_prime_UTR_variant,,,,1,793370,0.0000012604459457756155,0,0,,,0.124,,0.00,0.0100,0.404,,,0,19144,0,0,0,31850,0,0,0,20868,0,0,0,33076,0,0,0,37844,0,0,0,3582,0,0,1,543238,0,0,,,,,0,65566,0,0,0,38202,0,0 -17-43091266-G-A,17,43091266,rs1003201275,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*65C>T,,c.*65C>T,3_prime_UTR_variant,,,,5,945568,0.000005287826999221632,0,0,afr,0.00001314,0.158,,0.00,0.00,0.404,,,3,60588,0,0,1,47124,0,0,0,24336,0,0,0,38276,0,0,0,48460,0,0,0,3898,0,0,0,611286,0,0,0,912,0,0,0,70394,0,0,1,40294,0,0 -17-43091269-G-T,17,43091269,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*62C>A,,c.*62C>A,3_prime_UTR_variant,,,,2,818106,0.0000024446709839556242,0,0,,,0.0400,,0.00,0.00,0.135,,,0,19620,0,0,0,31886,0,0,0,21058,0,0,0,33150,0,0,0,38228,0,0,0,3722,0,0,1,565166,0,0,,,,,1,66190,0,0,0,39086,0,0 -17-43091270-G-T,17,43091270,rs2053459469,G,T,gnomAD Genomes,NA,PASS,ENST00000354071.7,c.*61C>A,,c.*61C>A,3_prime_UTR_variant,,,,3,152154,0.000019716865807011317,0,0,afr,0.00001302,0.977,,0.00,0.00,1.11,,,3,41430,0,0,0,15260,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43091272-CT-C,17,43091272,rs1429354918,CT,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*58del,,c.*58del,3_prime_UTR_variant,,,,16,873804,0.000018310742454829688,1,0,sas,0.00012512,5.27,,0.00,0.00,0.221,,,0,20738,0,0,0,31964,0,0,0,21436,0,0,0,33438,0,0,0,38696,0,0,0,3918,0,0,1,615288,0,0,,,,,14,67402,1,0,1,40924,0,0 -17-43091272-C-T,17,43091272,,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*59G>A,,c.*59G>A,3_prime_UTR_variant,,,,1,873804,0.0000011444214034268555,0,0,,,0.240,,0.00,0.00,0.221,,,0,20738,0,0,0,31964,0,0,0,21436,0,0,0,33438,0,0,0,38696,0,0,0,3918,0,0,1,615288,0,0,,,,,0,67402,0,0,0,40924,0,0 -17-43091272-C-CT,17,43091272,rs1429354918,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*58dup,,c.*58dup,3_prime_UTR_variant,,,,4,1025934,0.000003898886283133223,0,0,amr,0.00001685,5.97,,0.00,0.00,0.221,,,0,62156,0,0,3,47234,0,0,0,24906,0,0,0,38642,0,0,0,49312,0,0,0,4234,0,0,1,683300,0,0,0,912,0,0,0,72222,0,0,0,43016,0,0 -17-43091278-T-C,17,43091278,rs867252606,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*53A>G,,c.*53A>G,3_prime_UTR_variant,,,,1,546490,0.000001829859649764863,0,0,,,5.46,,0.00,0.0100,-0.587,,,1,14850,0,0,0,31582,0,0,0,19398,0,0,0,32154,0,0,0,39328,0,0,0,3380,0,0,0,314474,0,0,,,,,0,61278,0,0,0,30046,0,0 -17-43091279-C-T,17,43091279,rs1183985102,C,T,"gnomAD Exomes,gnomAD 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Exomes,PASS,NA,ENST00000354071.7,c.*49A>C,,c.*49A>C,3_prime_UTR_variant,,,,1,942968,0.0000010604813737051523,0,0,,,3.67,,0.00,0.00,0.371,,,0,21928,0,0,0,32048,0,0,0,21860,0,0,0,33830,0,0,0,40056,0,0,0,4258,0,0,1,676758,0,0,,,,,0,69182,0,0,0,43048,0,0 -17-43091283-G-A,17,43091283,rs2053460196,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*48C>T,,c.*48C>T,3_prime_UTR_variant,,,,4,1099408,0.0000036383217149593234,0,0,afr,0.000020710000000000003,10.4,,0.00,0.00,0.400,,,4,63444,0,0,0,47056,0,0,0,25394,0,0,0,39080,0,0,0,50774,0,0,0,4610,0,0,0,748880,0,0,0,912,0,0,0,73976,0,0,0,45282,0,0 -17-43091284-A-G,17,43091284,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*47T>C,,c.*47T>C,3_prime_UTR_variant,,,,1,405036,0.0000024689163432386256,0,0,,,13.2,,0.00,0.00,0.797,,,0,7294,0,0,0,494,0,0,0,2498,0,0,0,1650,0,0,0,140,0,0,0,798,0,0,1,370968,0,0,,,,,0,7898,0,0,0,13296,0,0 -17-43091288-G-C,17,43091288,rs1250784398,G,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*43C>G,,c.*43C>G,3_prime_UTR_variant,,,,9,965138,0.00000932509133408901,0,0,nfe,0.00000495,13.1,,0.00,0.00,1.54,,,0,22492,0,0,0,32596,0,0,0,22118,0,0,0,34078,0,0,0,41032,0,0,0,4434,0,0,8,694608,0,0,,,,,1,69996,0,0,0,43784,0,0 -17-43091288-G-A,17,43091288,rs1250784398,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*43C>T,,c.*43C>T,3_prime_UTR_variant,,,,3,1117324,0.000002684986628766589,0,0,nfe,0.00000105,13.4,,0.00,0.00,1.54,,,0,63934,0,0,0,47878,0,0,0,25590,0,0,0,39278,0,0,0,51644,0,0,0,4750,0,0,3,762630,0,0,0,912,0,0,0,74830,0,0,0,45878,0,0 -17-43091288-G-T,17,43091288,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*43C>A,,c.*43C>A,3_prime_UTR_variant,,,,1,965132,0.0000010361277006668517,0,0,,,12.9,,0.00,0.00,1.54,,,0,22492,0,0,0,32596,0,0,0,22118,0,0,0,34078,0,0,0,41032,0,0,0,4434,0,0,1,694602,0,0,,,,,0,69996,0,0,0,43784,0,0 -17-43091290-AC-A,17,43091290,,AC,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*40del,,c.*40del,3_prime_UTR_variant,,,,1,420292,0.0000023792982022022785,0,0,,,9.43,,0.00,0.00,0.974,,,0,7554,0,0,0,500,0,0,0,2590,0,0,0,1694,0,0,0,156,0,0,0,828,0,0,1,384936,0,0,,,,,0,8198,0,0,0,13836,0,0 -17-43091291-C-T,17,43091291,rs1471988301,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*40G>A,,c.*40G>A,3_prime_UTR_variant,,,,1,992724,0.0000010073293281919245,0,0,,,12.2,,0.00,0.00,0.196,,,0,23352,0,0,0,34870,0,0,0,22646,0,0,0,34330,0,0,0,41948,0,0,0,4614,0,0,0,714244,0,0,,,,,0,71890,0,0,1,44830,0,0 -17-43091292-CT-C,17,43091292,rs757538941,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*38del,,c.*38del,3_prime_UTR_variant,,,,2,1154896,0.0000017317576647594242,0,0,,,9.51,,0.00,0.0300,1.76,,,0,64952,0,0,0,50276,0,0,0,26164,0,0,0,39622,0,0,0,52762,0,0,0,4982,0,0,2,791018,0,0,0,912,0,0,0,76978,0,0,0,47230,0,0 -17-43091294-TAGG-T,17,43091294,,TAGG,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*34_*36del,,c.*34_*36del,3_prime_UTR_variant,,,,1,443066,0.000002257000085766003,0,0,,,11.0,,0.00,-0.0300,0.390,,,0,7942,0,0,0,512,0,0,0,2730,0,0,0,1822,0,0,0,180,0,0,0,870,0,0,1,405832,0,0,,,,,0,8636,0,0,0,14542,0,0 -17-43091297-G-A,17,43091297,rs1419980832,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*34C>T,,c.*34C>T,3_prime_UTR_variant,,,,2,1174612,0.0000017026899095190581,0,0,,,13.3,,0.00,0.00,1.85,,,0,65404,0,0,0,50812,0,0,0,26346,0,0,0,39938,0,0,0,53876,0,0,0,5072,0,0,2,806578,0,0,0,912,0,0,0,77802,0,0,0,47872,0,0 -17-43091298-A-G,17,43091298,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*33T>C,,c.*33T>C,3_prime_UTR_variant,,,,1,1028956,9.718588549947714e-7,0,0,,,15.0,,0.00,0.00,1.83,,,0,24078,0,0,0,35630,0,0,0,22912,0,0,0,34830,0,0,0,43604,0,0,0,4794,0,0,0,744040,0,0,,,,,1,73132,0,0,0,45936,0,0 -17-43091299-G-T,17,43091299,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*32C>A,,c.*32C>A,3_prime_UTR_variant,,,,1,1040210,9.613443439305525e-7,0,0,,,14.8,,0.00,0.00,1.90,,,0,24302,0,0,0,35712,0,0,0,23010,0,0,0,34928,0,0,0,43730,0,0,0,4838,0,0,1,753848,0,0,,,,,0,73448,0,0,0,46394,0,0 -17-43091301-A-C,17,43091301,rs1008458471,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*30T>G,,c.*30T>G,3_prime_UTR_variant,,,,3,1202374,0.000002495063931854814,0,0,sas,0.00001014,15.5,,0.00,0.00,1.54,,,0,65956,0,0,0,51244,0,0,0,26548,0,0,0,40256,0,0,0,54716,0,0,0,5202,0,0,0,830148,0,0,0,912,0,0,3,78598,0,0,0,48794,0,0 -17-43091302-A-G,17,43091302,rs765209391,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*29T>C,,c.*29T>C,3_prime_UTR_variant,,,,6,1055590,0.00000568402504760371,0,0,sas,0.00003231,14.9,,0.00,0.00,1.13,,,0,24598,0,0,0,36048,0,0,0,23104,0,0,0,35142,0,0,0,44300,0,0,0,4914,0,0,0,766660,0,0,,,,,5,73944,0,0,1,46880,0,0 -17-43091303-C-T,17,43091303,rs1164103531,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*28G>A,,c.*28G>A,3_prime_UTR_variant,,,,1,1067526,9.367453345398613e-7,0,0,,,12.2,,0.00,0.00,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,0,35230,0,0,0,44458,0,0,0,4944,0,0,1,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 -17-43091303-C-A,17,43091303,rs1164103531,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*28G>T,,c.*28G>T,3_prime_UTR_variant,,,,1,1067526,9.367453345398613e-7,0,0,,,11.4,,0.00,0.0300,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,1,35230,0,0,0,44458,0,0,0,4944,0,0,0,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 -17-43091303-CAT-C,17,43091303,,CAT,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*26_*27del,,c.*26_*27del,3_prime_UTR_variant,,,,2,1067526,0.0000018734906690797226,0,0,nfe,4.299999999999999e-7,1.86,,0.00,-0.0100,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,0,35230,0,0,0,44458,0,0,0,4944,0,0,2,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 -17-43091305-T-C,17,43091305,rs1347945159,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*26A>G,,c.*26A>G,3_prime_UTR_variant,,,,6,1070222,0.000005606313456460435,0,0,nfe,0.0000012000000000000002,0.215,,0.00,0.00,-2.35,,,0,24938,0,0,0,36452,0,0,0,23264,0,0,0,35394,0,0,0,44900,0,0,0,4990,0,0,4,778344,0,0,,,,,0,74572,0,0,2,47368,0,0 -17-43091306-G-T,17,43091306,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*25C>A,,c.*25C>A,3_prime_UTR_variant,,,,1,510464,0.000001959002006018054,0,0,,,5.21,,0.00,0.00,0.955,,,0,9198,0,0,0,590,0,0,0,3142,0,0,0,2118,0,0,0,192,0,0,0,1006,0,0,1,467502,0,0,,,,,0,10000,0,0,0,16716,0,0 -17-43091307-T-C,17,43091307,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*24A>G,,c.*24A>G,3_prime_UTR_variant,,,,1,579058,0.0000017269427242176086,0,0,,,7.23,,0.00,0.00,-0.270,,,0,16126,0,0,0,36124,0,0,0,20266,0,0,0,33464,0,0,0,45084,0,0,0,4018,0,0,0,327618,0,0,,,,,1,65098,0,0,0,31260,0,0 -17-43091309-T-G,17,43091309,rs752171726,T,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*22A>C,,c.*22A>C,3_prime_UTR_variant,,,,2,1118040,0.0000017888447640513756,0,0,amr,0.00000896,10.6,,0.00,-0.0100,1.38,,,0,25856,0,0,2,36970,0,0,0,23560,0,0,0,35814,0,0,0,45646,0,0,0,5090,0,0,0,820390,0,0,,,,,0,75798,0,0,0,48916,0,0 -17-43091310-C-A,17,43091310,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*21G>T,,c.*21G>T,3_prime_UTR_variant,,,,1,581904,0.00000171849652176304,0,0,,,6.50,,0.00,0.0100,-0.346,,,0,16170,0,0,0,36454,0,0,0,20288,0,0,0,33634,0,0,0,45570,0,0,0,4028,0,0,1,329034,0,0,,,,,0,65346,0,0,0,31380,0,0 -17-43091313-G-A,17,43091313,rs1472000905,G,A,gnomAD Genomes,NA,PASS,ENST00000354071.7,c.*18C>T,,c.*18C>T,3_prime_UTR_variant,,,,1,152180,0.000006571165724799579,0,0,,,8.87,,0.00,0.00,0.692,,,0,41452,0,0,0,15272,0,0,0,3472,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43091315-T-C,17,43091315,rs1374254014,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*16A>G,,c.*16A>G,3_prime_UTR_variant,,,,1,1167746,8.563506104923502e-7,0,0,,,12.0,,0.00,0.00,0.315,,,0,26842,0,0,1,38258,0,0,0,23950,0,0,0,36446,0,0,0,46964,0,0,0,5198,0,0,0,862110,0,0,,,,,0,77416,0,0,0,50562,0,0 -17-43091316-T-A,17,43091316,,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*15A>T,,c.*15A>T,3_prime_UTR_variant,,,,1,1173710,8.519992161607211e-7,0,0,,,9.50,,0.00,0.0100,-0.184,,,0,26958,0,0,0,38458,0,0,0,23986,0,0,0,36560,0,0,0,47230,0,0,0,5206,0,0,1,866888,0,0,,,,,0,77644,0,0,0,50780,0,0 -17-43091316-TAAG-T,17,43091316,rs765266479,TAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*12_*14del,,c.*12_*14del,3_prime_UTR_variant,,,,30,1325934,0.000022625560548262583,0,0,sas,0.00014989,11.7,,0.00,-0.0400,-0.184,,,0,68414,0,0,0,53736,0,0,0,27458,0,0,0,41760,0,0,0,57852,0,0,0,5522,0,0,11,934930,0,0,0,912,0,0,19,82476,0,0,0,52874,0,0 -17-43091318-A-G,17,43091318,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*13T>C,,c.*13T>C,3_prime_UTR_variant,,,,1,588074,0.0000017004662678506447,0,0,,,14.7,,0.00,-0.0100,3.18,,,0,10636,0,0,0,674,0,0,0,3580,0,0,0,2462,0,0,0,218,0,0,0,1162,0,0,1,538514,0,0,,,,,0,11578,0,0,0,19250,0,0 -17-43091321-A-C,17,43091321,,A,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*10T>G,,c.*10T>G,3_prime_UTR_variant,,,,1,1201380,8.323761008173933e-7,0,0,,,15.6,,0.00,0.00,3.10,,,0,27566,0,0,0,39628,0,0,0,24246,0,0,0,37100,0,0,0,48382,0,0,0,5264,0,0,1,888788,0,0,,,,,0,78684,0,0,0,51722,0,0 -17-43091322-G-A,17,43091322,rs773456796,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*9C>T,,c.*9C>T,3_prime_UTR_variant,,,,2,1191108,0.000001679108863344046,0,0,nfe,3.7999999999999996e-7,15.4,,0.00,0.0100,1.15,,,0,27408,0,0,0,39810,0,0,0,24206,0,0,0,37084,0,0,0,48478,0,0,0,5248,0,0,2,878860,0,0,,,,,0,78636,0,0,0,51378,0,0 -17-43091324-A-G,17,43091324,rs1357937223,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*7T>C,,c.*7T>C,3_prime_UTR_variant,,,,2,603010,0.0000033166945821794,0,0,sas,0.00000493,9.13,,0.00,0.00,-0.162,,,0,16790,0,0,0,39652,0,0,0,20634,0,0,0,34828,0,0,0,48824,0,0,0,4100,0,0,0,338704,0,0,,,,,2,67306,0,0,0,32172,0,0 -17-43091325-G-A,17,43091325,,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*6C>T,,c.*6C>T,3_prime_UTR_variant,,,,1,1251022,7.993464543389325e-7,0,0,,,12.3,,0.00,0.00,1.15,,,0,28614,0,0,1,40624,0,0,0,24646,0,0,0,37648,0,0,0,49142,0,0,0,5366,0,0,0,931466,0,0,,,,,0,80164,0,0,0,53352,0,0 -17-43091328-C-G,17,43091328,rs2053462603,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*3G>C,,c.*3G>C,3_prime_UTR_variant,,,,3,1417742,0.0000021160408593383,0,0,,,9.61,,0.00,-0.0100,0.946,,,0,70448,0,0,0,56514,0,0,0,28224,0,0,0,43026,0,0,3,60322,0,0,0,5706,0,0,0,1011036,0,0,0,912,0,0,0,85602,0,0,0,55952,0,0 -17-43091329-C-A,17,43091329,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*2G>T,,c.*2G>T,3_prime_UTR_variant,,,,3,1290660,0.0000023243921714471667,0,0,nfe,8.299999999999999e-7,10.1,,0.00,-0.0100,1.83,,,0,29580,0,0,0,41444,0,0,0,24886,0,0,0,37976,0,0,0,49920,0,0,0,5436,0,0,3,965358,0,0,,,,,0,81382,0,0,0,54678,0,0 -17-43091332-TAACTA-T,17,43091332,rs750547789,TAACTA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1398Ter,p.Tyr1398Ter,c.4194_4198del,frameshift_variant,Benign/Likely benign,1170582,lof_flag,51,1454554,0.0000350622940090227,0,0,eas,0.0008759000000000001,10.3,,0.00,-0.0200,2.81,,,0,71452,0,0,0,57292,0,0,0,28482,0,0,49,43440,0,0,0,60998,0,0,0,5756,0,0,0,1042358,0,0,0,912,0,0,0,86686,0,0,2,57178,0,0 -17-43091332-T-A,17,43091332,,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ter1400LeuextTer25,p.Ter1400LeuextTer25,c.4199A>T,stop_lost,,,,9,1302238,0.000006911179062506239,0,0,nfe,0.00000435,14.4,,0.00,0.00,2.81,,,0,29886,0,0,0,41994,0,0,0,25010,0,0,0,38252,0,0,0,50382,0,0,0,5462,0,0,9,974334,0,0,,,,,0,81856,0,0,0,55062,0,0 -17-43091333-A-T,17,43091333,,A,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ter1400LysextTer25,p.Ter1400LysextTer25,c.4198T>A,stop_lost,,,,1,691582,0.000001445960131987241,0,0,,,12.8,,0.00,-0.0100,0.314,,,0,12780,0,0,0,800,0,0,0,4248,0,0,0,2914,0,0,0,242,0,0,0,1346,0,0,1,632926,0,0,,,,,0,13690,0,0,0,22636,0,0 -17-43091335-C-A,17,43091335,rs751226166,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ser1399Ile,p.Ser1399Ile,c.4196G>T,missense_variant,,,,38,1473100,0.000025795940533568663,0,0,eas,0.0006326000000000002,4.33,,0.00,-0.0100,-1.73,,,0,71728,0,0,0,57818,0,0,0,28598,0,0,37,43580,0,0,0,61462,0,0,0,5804,0,0,0,1058204,0,0,0,910,0,0,0,87272,0,0,1,57724,0,0 -17-43091335-C-T,17,43091335,rs751226166,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1399Asn,p.Ser1399Asn,c.4196G>A,missense_variant,,,,2,1320924,0.0000015140916509958181,0,0,amr,0.00000779,5.03,,0.00,-0.0100,-1.73,,,0,30264,0,0,2,42542,0,0,0,25126,0,0,0,38404,0,0,0,50850,0,0,0,5488,0,0,0,990178,0,0,,,,,0,82440,0,0,0,55632,0,0 -17-43091336-T-C,17,43091336,rs1320360987,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1399Gly,p.Ser1399Gly,c.4195A>G,missense_variant,,,,1,616318,0.0000016225390139505904,0,0,,,9.37,,0.00,-0.0100,0.519,,,0,17254,0,0,0,41880,0,0,0,20798,0,0,0,35488,0,0,0,50786,0,0,0,4124,0,0,0,344804,0,0,,,,,1,68586,0,0,0,32598,0,0 -17-43091340-C-T,17,43091340,rs780312395,C,T,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Lys1397Lys,p.Lys1397Lys,c.4191G>A,synonymous_variant,,,,1,152170,0.0000065715975553657095,0,0,,,11.4,,0.00,-0.0100,0.976,,,1,41444,0,0,0,15270,0,0,0,3472,0,0,0,5194,0,0,0,10610,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43091342-T-C,17,43091342,rs749750694,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Lys1397Glu,p.Lys1397Glu,c.4189A>G,missense_variant,,,,1,1357542,7.366254598384433e-7,0,0,,,10.9,,0.00,0.00,0.915,,,0,31150,0,0,0,43512,0,0,0,25406,0,0,0,38924,0,0,0,51648,0,0,0,5544,0,0,0,1020906,0,0,,,,,1,83560,0,0,0,56892,0,0 -17-43091343-G-T,17,43091343,rs1482502749,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1396Ser,p.Ser1396Ser,c.4188C>A,synonymous_variant,,,,3,621124,0.000004829953439248845,0,0,nfe,0.0000023,3.98,,0.00,0.00,-0.452,,,0,17440,0,0,0,42692,0,0,0,20876,0,0,0,35760,0,0,0,51412,0,0,0,4136,0,0,3,346876,0,0,,,,,0,69130,0,0,0,32802,0,0 -17-43091343-G-A,17,43091343,,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1396Ser,p.Ser1396Ser,c.4188C>T,synonymous_variant,,,,2,621124,0.0000032199689594992305,0,0,nfe,9.6e-7,4.54,,0.00,0.0100,-0.452,,,0,17440,0,0,0,42692,0,0,0,20876,0,0,0,35760,0,0,0,51412,0,0,0,4136,0,0,2,346876,0,0,,,,,0,69130,0,0,0,32802,0,0 -17-43091344-G-C,17,43091344,,G,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1396Cys,p.Ser1396Cys,c.4187C>G,missense_variant,,,,1,1373204,7.282239201167489e-7,0,0,,,3.26,,0.00,0.00,0.661,,,0,31448,0,0,0,43672,0,0,0,25532,0,0,0,38994,0,0,0,51750,0,0,0,5596,0,0,1,1034790,0,0,,,,,0,83950,0,0,0,57472,0,0 -17-43091344-G-T,17,43091344,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ser1396Tyr,p.Ser1396Tyr,c.4187C>A,missense_variant,,,,1,1373204,7.282239201167489e-7,0,0,,,2.99,,0.00,0.00,0.661,,,0,31448,0,0,0,43672,0,0,0,25532,0,0,0,38994,0,0,1,51750,0,0,0,5596,0,0,0,1034790,0,0,,,,,0,83950,0,0,0,57472,0,0 -17-43091346-A-G,17,43091346,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1395Ile,p.Ile1395Ile,c.4185T>C,synonymous_variant,,,,1,755232,0.0000013240964365916698,0,0,,,15.5,,0.00,-0.0100,0.886,,,0,14096,0,0,0,880,0,0,0,4646,0,0,0,3234,0,0,0,250,0,0,0,1458,0,0,1,691080,0,0,,,,,0,14862,0,0,0,24726,0,0 -17-43091349-T-G,17,43091349,,T,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Gln1394His,p.Gln1394His,c.4182A>C,missense_variant,,,,6,1383684,0.000004336250184290633,0,0,nfe,0.0000020700000000000005,13.7,,0.00,0.00,0.364,,,0,31732,0,0,0,43998,0,0,0,25606,0,0,0,39146,0,0,0,52168,0,0,0,5608,0,0,6,1043330,0,0,,,,,0,84268,0,0,0,57828,0,0 -17-43091357-T-C,17,43091357,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1392Val,p.Ile1392Val,c.4174A>G,missense_variant,,,,2,779918,0.0000025643721519441786,0,0,,,14.0,,0.00,0.00,-0.403,,,0,14622,0,0,0,918,0,0,0,4788,0,0,0,3370,0,0,0,258,0,0,0,1518,0,0,1,713460,0,0,,,,,1,15388,0,0,0,25596,0,0 -17-43091358-G-A,17,43091358,rs1202440692,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.His1391His,p.His1391His,c.4173C>T,synonymous_variant,,,,4,1557442,0.0000025683139404228217,0,0,,,13.1,,0.00,0.0100,0.748,,,0,73658,0,0,0,59656,0,0,0,29220,0,0,0,44560,0,0,2,63246,0,0,0,5970,0,0,1,1129820,0,0,0,912,0,0,0,89768,0,0,1,60632,0,0 -17-43091359-T-A,17,43091359,rs2053463997,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.His1391Leu,p.His1391Leu,c.4172A>T,missense_variant,,,,1,626802,0.0000015954001423096927,0,0,,,15.3,,0.00,0.00,0.302,,,0,17632,0,0,0,43496,0,0,0,20950,0,0,0,35992,0,0,0,52470,0,0,0,4144,0,0,1,349480,0,0,,,,,0,69608,0,0,0,33030,0,0 -17-43091360-G-A,17,43091360,rs2154263008,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.His1391Tyr,p.His1391Tyr,c.4171C>T,missense_variant,,,,3,781806,0.000003837269092332369,0,0,nfe,0.00000112,14.2,,0.00,0.0100,0.303,,,0,14680,0,0,0,926,0,0,0,4798,0,0,0,3372,0,0,0,264,0,0,0,1516,0,0,3,715176,0,0,,,,,0,15452,0,0,0,25622,0,0 -17-43091361-C-A,17,43091361,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1390Asp,p.Glu1390Asp,c.4170G>T,missense_variant,,,,1,790728,0.0000012646573790228752,0,0,,,13.3,,0.00,0.0100,0.876,,,0,14886,0,0,0,938,0,0,0,4854,0,0,0,3412,0,0,0,264,0,0,0,1536,0,0,1,723318,0,0,,,,,0,15638,0,0,0,25882,0,0 -17-43091363-C-A,17,43091363,rs1259065363,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1390Ter,p.Glu1390Ter,c.4168G>T,stop_gained,,,lof_flag,1,627464,0.0000015937169303736947,0,0,,,15.3,,0.00,0.0100,1.40,,,1,17672,0,0,0,43592,0,0,0,20966,0,0,0,36020,0,0,0,52596,0,0,0,4144,0,0,0,349706,0,0,,,,,0,69718,0,0,0,33050,0,0 -17-43091375-A-G,17,43091375,rs755416208,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1386His,p.Tyr1386His,c.4156T>C,missense_variant,,,,3,780616,0.000003843118767742399,0,0,sas,0.00001068,11.6,,0.00,-0.0200,0.419,,,0,59172,0,0,0,58984,0,0,0,24446,0,0,0,41244,0,0,0,63530,0,0,0,4464,0,0,0,418084,0,0,0,912,0,0,3,74610,0,0,0,35170,0,0 -17-43091376-A-G,17,43091376,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Val1385Val,p.Val1385Val,c.4155T>C,synonymous_variant,,,,1,819704,0.0000012199525682441467,0,0,,,8.90,,0.00,-0.0200,-0.0890,,,0,15496,0,0,0,966,0,0,0,5050,0,0,0,3556,0,0,0,274,0,0,0,1590,0,0,1,749736,0,0,,,,,0,16192,0,0,0,26844,0,0 -17-43091376-A-C,17,43091376,rs2053464496,A,C,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Val1385Val,p.Val1385Val,c.4155T>G,synonymous_variant,,,,2,152246,0.000013136634131602801,0,0,afr,0.00000799,8.63,,0.00,0.00,-0.0890,,,2,41468,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10624,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43091382-T-C,17,43091382,rs2053464889,T,C,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Leu1383Leu,p.Leu1383Leu,c.4149A>G,synonymous_variant,,,,1,152216,0.0000065696116045619385,0,0,,,14.4,,0.00,-0.0100,-0.174,,,1,41460,0,0,0,15278,0,0,0,3472,0,0,0,5192,0,0,0,10626,0,0,0,316,0,0,0,68044,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 -17-43091385-C-T,17,43091385,rs779599663,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Glu1382Glu,p.Glu1382Glu,c.4146G>A,synonymous_variant,,,,7,1605548,0.000004359882108787778,0,0,nfe,0.00000184,10.5,,0.00,0.0100,-0.0150,,,0,74754,0,0,1,59974,0,0,0,29556,0,0,0,44846,0,0,0,63910,0,0,0,6062,0,0,6,1172442,0,0,0,910,0,0,0,90894,0,0,0,62200,0,0 -17-43091387-C-T,17,43091387,rs1567788876,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1382Lys,p.Glu1382Lys,c.4144G>A,missense_variant,,,,1,628572,0.000001590907644629414,0,0,,,11.8,,0.0300,0.0300,0.788,,,0,17692,0,0,0,43722,0,0,0,20978,0,0,0,36054,0,0,0,53030,0,0,1,4148,0,0,0,350080,0,0,,,,,0,69778,0,0,0,33090,0,0 -17-43091390-T-A,17,43091390,rs1203766203,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ser1381Cys,p.Ser1381Cys,c.4141A>T,missense_variant,,,,3,980578,0.0000030594200563341213,0,0,afr,0.00001393,14.1,,0.00,0.0100,0.774,,,3,57138,0,0,0,16260,0,0,0,8600,0,0,0,8814,0,0,0,10898,0,0,0,1930,0,0,0,825592,0,0,0,912,0,0,0,21190,0,0,0,29244,0,0 -17-43091392-C-T,17,43091392,rs1597859241,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Arg1380Lys,p.Arg1380Lys,c.4139G>A,missense_variant,Likely benign,803414,,1,1457728,6.8599903411336e-7,0,0,,,11.7,,0.00,0.0100,0.505,,,0,33388,0,0,0,44700,0,0,0,26114,0,0,0,39670,0,0,0,53320,0,0,0,5764,0,0,1,1108362,0,0,,,,,0,86156,0,0,0,60254,0,0 -17-43091393-TATAA-T,17,43091393,,TATAA,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Tyr1379GlufsTer4,p.Tyr1379GlufsTer4,c.4134_4137del,frameshift_variant,,,lof_flag,3,628604,0.000004772479971492386,0,0,nfe,0.00000228,11.0,,0.00,-0.0400,0.243,,,0,17694,0,0,0,43722,0,0,0,20980,0,0,0,36056,0,0,0,53056,0,0,0,4148,0,0,3,350088,0,0,,,,,0,69772,0,0,0,33088,0,0 -17-43091394-A-G,17,43091394,rs748228826,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Tyr1379Tyr,p.Tyr1379Tyr,c.4137T>C,synonymous_variant,Likely benign,1176662,,5,1458328,0.000003428583967392795,0,0,,,10.7,,0.0300,-0.0300,-0.157,,,0,33382,0,0,0,44702,0,0,0,26114,0,0,0,39668,0,0,0,53346,0,0,0,5762,0,0,1,1108900,0,0,,,,,0,86168,0,0,4,60286,0,0 -17-43091396-A-G,17,43091396,rs772296606,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1379His,p.Tyr1379His,c.4135T>C,missense_variant,,,,14,1610622,0.000008692294032988498,0,0,nfe,0.00000292,13.3,,0.0100,-0.0200,0.0390,,,0,74840,0,0,1,59980,0,0,0,29578,0,0,0,44866,0,0,0,63952,0,0,2,6076,0,0,8,1177028,0,0,0,910,0,0,0,91006,0,0,3,62386,0,0 -17-43091398-A-G,17,43091398,rs2154263629,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1378Thr,p.Ile1378Thr,c.4133T>C,missense_variant,,,,2,831004,0.000002406727284104529,0,0,nfe,4.4e-7,12.2,,0.0400,0.0200,1.21,,,0,15726,0,0,0,982,0,0,0,5136,0,0,0,3620,0,0,0,276,0,0,0,1618,0,0,2,759978,0,0,,,,,0,16424,0,0,0,27244,0,0 -17-43091399-T-C,17,43091399,rs45620639,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ile1378Val,p.Ile1378Val,c.4132A>G,missense_variant,Benign,1325660,,187,1611854,0.00011601547038379407,1,0,afr,0.00115825,0.680,,0.00,0.00,-3.93,,,103,75016,0,0,5,60012,0,0,0,29590,0,0,2,44858,0,0,0,63982,0,0,1,6060,0,0,17,1177976,0,0,0,910,0,0,26,91008,1,0,33,62442,0,0 -17-43091400-A-AGACTG,17,43091400,rs2053466213,A,AGACTG,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Ile1378SerfsTer8,p.Ile1378SerfsTer8,c.4126_4130dup,frameshift_variant,,,lof_flag,1,152246,0.0000065683170658014006,0,0,,,5.78,,0.00,-0.0300,0.0230,,,0,41474,0,0,0,15284,0,0,0,3468,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,1,2094,0,0 -17-43091403-CTG-C,17,43091403,rs1306379321,CTG,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Gln1376ValfsTer4,p.Gln1376ValfsTer4,c.4126_4127del,frameshift_variant,,,lof_flag,1,628622,0.0000015907811053383433,0,0,,,6.25,,0.00,0.0100,-1.68,,,0,17694,0,0,0,43722,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69756,0,0,0,33086,0,0 -17-43091405-G-A,17,43091405,rs369055904,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Gln1376Ter,p.Gln1376Ter,c.4126C>T,stop_gained,Likely benign,41822,lof_flag,23,1612160,0.000014266574037316396,0,0,amr,0.00001328,8.26,,0.00,0.0200,-0.347,,,0,74880,0,0,3,59968,0,0,17,29592,0,0,0,44876,0,0,0,63954,0,0,0,6084,0,0,1,1178488,0,0,0,910,0,0,0,90998,0,0,2,62410,0,0 -17-43091407-G-A,17,43091407,rs1415468030,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Pro1375Leu,p.Pro1375Leu,c.4124C>T,missense_variant,,,,3,780618,0.00000384310892139305,0,0,,,11.9,,0.0100,0.00,0.902,,,0,59078,0,0,1,58972,0,0,0,24446,0,0,0,41244,0,0,0,63692,0,0,0,4464,0,0,1,418084,0,0,0,910,0,0,0,74552,0,0,1,35176,0,0 -17-43091408-G-A,17,43091408,rs966550945,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Pro1375Ser,p.Pro1375Ser,c.4123C>T,missense_variant,Uncertain significance,433709,,4,1613126,0.0000024796575097047594,0,0,nfe,7.899999999999998e-7,12.0,,0.00,0.0100,0.650,,,0,74908,0,0,0,59964,0,0,0,29598,0,0,0,44882,0,0,0,63984,0,0,0,6084,0,0,4,1179320,0,0,0,912,0,0,0,91012,0,0,0,62462,0,0 -17-43091412-A-G,17,43091412,rs2154263897,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Cys1373Cys,p.Cys1373Cys,c.4119T>C,synonymous_variant,,,,1,832930,0.0000012005810812433217,0,0,,,16.8,,0.0400,-0.0300,2.88,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761740,0,0,,,,,0,16454,0,0,0,27294,0,0 -17-43091416-A-C,17,43091416,rs2154263975,A,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Leu1372Trp,p.Leu1372Trp,c.4115T>G,missense_variant,,,,1,832914,0.0000012006041440052635,0,0,,,16.0,,0.110,-0.0700,1.09,,,1,15784,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761718,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43091417-A-G,17,43091417,rs1057523237,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Leu1372Leu,p.Leu1372Leu,c.4114T>C,synonymous_variant,Likely benign,388810,,2,628660,0.0000031813698978780264,0,0,nfe,9.5e-7,10.4,,0.0300,-0.0300,-0.0760,,,0,17692,0,0,0,43728,0,0,0,20982,0,0,0,36064,0,0,0,53126,0,0,0,4148,0,0,2,350082,0,0,,,,,0,69746,0,0,0,33092,0,0 -17-43091420-A-G,17,43091420,rs1567788912,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Phe1371Leu,p.Phe1371Leu,c.4111T>C,missense_variant,Likely benign,628511,,1,628636,0.000001590745677943993,0,0,,,11.6,,0.00,-0.0200,0.613,,,0,17690,0,0,0,43722,0,0,0,20982,0,0,0,36064,0,0,0,53120,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69738,0,0,1,33090,0,0 -17-43091424-GGTTCCA-G,17,43091424,,GGTTCCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4096+5_4096+10del,,c.4096+5_4096+10del,intron_variant,,,,2,833050,0.0000024008162775343618,0,0,nfe,4.4e-7,5.61,,0.0300,-0.0800,-0.0500,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761848,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091428-C-T,17,43091428,rs1060504565,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Gly1368Glu,p.Gly1368Glu,c.4103G>A,missense_variant,Conflicting interpretations of pathogenicity,415566,,1,1461720,6.841255507210683e-7,0,0,,,5.94,,0.00,0.0400,0.705,,,0,33474,0,0,0,44698,0,0,0,26132,0,0,0,39692,0,0,0,53402,0,0,0,5768,0,0,1,1111954,0,0,,,,,0,86208,0,0,0,60392,0,0 -17-43091430-A-G,17,43091430,rs1555586462,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4096+5T>C,,c.4096+5T>C,intron_variant,,,,2,833096,0.000002400683714721953,0,0,nfe,4.4e-7,8.62,,0.0100,-0.0300,0.219,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091431-A-G,17,43091431,rs1597859326,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1367Thr,p.Ile1367Thr,c.4100T>C,missense_variant,Uncertain significance,654538,,1,833102,0.0000012003332124997898,0,0,,,8.97,,0.00,0.0300,-0.0920,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091432-T-C,17,43091432,rs80358015,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1367Val,p.Ile1367Val,c.4099A>G,missense_variant,Uncertain significance,37566,,3,1461602,0.0000020525423473695302,0,0,nfe,7.200000000000001e-7,23.9,,0.640,-0.610,6.30,,,0,33464,0,0,0,44668,0,0,0,26130,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,3,1111932,0,0,,,,,0,86162,0,0,0,60380,0,0 -17-43091434-C-T,17,43091434,rs80358178,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4096+1G>A,,c.4096+1G>A,splice_donor_variant,Uncertain significance,37565,,6,1613864,0.0000037177853895991234,0,0,nfe,0.0000012399999999999998,32.0,,0.690,-0.690,8.82,,,0,74926,0,0,0,59950,0,0,0,29602,0,0,0,44896,0,0,0,64024,0,0,0,6082,0,0,5,1179976,0,0,0,912,0,0,0,91020,0,0,1,62476,0,0 -17-43091436-T-C,17,43091436,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1365Leu,p.Leu1365Leu,c.4095A>G,splice_region_variant,,,,1,833096,0.0000012003418573609765,0,0,,,22.7,,0.370,-0.410,4.69,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43091439-G-A,17,43091439,rs786201566,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1364Asn,p.Asn1364Asn,c.4092C>T,synonymous_variant,Likely benign,184605,,1,628514,0.0000015910544554297915,0,0,,,6.49,,0.0100,0.0100,1.15,,,0,17672,0,0,0,43676,0,0,0,20982,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,1,350052,0,0,,,,,0,69716,0,0,0,33078,0,0 -17-43091440-T-G,17,43091440,rs765156052,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1364Thr,p.Asn1364Thr,c.4091A>C,missense_variant,Conflicting interpretations of pathogenicity,950528,,1,628504,0.0000015910797703753675,0,0,,,23.6,0.457,0.00,0.0200,1.34,0.0100,0.0100,0,17668,0,0,0,43672,0,0,0,20982,0,0,0,36062,0,0,0,53130,0,0,0,4148,0,0,0,350046,0,0,,,,,1,69722,0,0,0,33074,0,0 -17-43091443-G-A,17,43091443,rs398122680,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1363Leu,p.Ser1363Leu,c.4088C>T,missense_variant,Conflicting interpretations of pathogenicity,91622,,23,1461562,0.00001573658866336153,0,0,nfe,0.00001377,22.7,0.458,0.140,-0.150,5.89,0.0900,0.00300,0,33446,0,0,0,44658,0,0,0,26128,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,23,1111942,0,0,,,,,0,86158,0,0,0,60368,0,0 -17-43091443-G-C,17,43091443,rs398122680,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1363Ter,p.Ser1363Ter,c.4088C>G,stop_gained,Pathogenic,254452,lof_flag,1,1461562,6.841995071026751e-7,0,0,,,38.0,,0.110,-0.160,5.89,,,1,33446,0,0,0,44658,0,0,0,26128,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86158,0,0,0,60368,0,0 -17-43091447-C-A,17,43091447,rs775463394,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1362Tyr,p.Asp1362Tyr,c.4084G>T,missense_variant,Conflicting interpretations of pathogenicity,1737655,,2,1461426,0.0000013685263571333752,0,0,nfe,2.999999999999999e-7,23.3,0.557,0.280,-0.240,1.88,0.00,0.556,0,33426,0,0,0,44620,0,0,0,26114,0,0,0,39690,0,0,0,53402,0,0,0,5768,0,0,2,1111904,0,0,,,,,0,86134,0,0,0,60368,0,0 -17-43091447-C-T,17,43091447,rs775463394,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1362Asn,p.Asp1362Asn,c.4084G>A,missense_variant,Conflicting interpretations of pathogenicity,575669,,2,1461426,0.0000013685263571333752,0,0,sas,0.00000385,22.0,0.349,0.190,-0.140,1.88,0.0600,0.255,0,33426,0,0,0,44620,0,0,0,26114,0,0,0,39690,0,0,0,53402,0,0,0,5768,0,0,0,1111904,0,0,,,,,2,86134,0,0,0,60368,0,0 -17-43091448-C-T,17,43091448,rs374192364,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Ile,p.Met1361Ile,c.4083G>A,missense_variant,Conflicting interpretations of pathogenicity,37564,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,15.5,0.308,0.310,-0.270,1.93,0.210,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091449-A-G,17,43091449,rs763596987,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Thr,p.Met1361Thr,c.4082T>C,missense_variant,Conflicting interpretations of pathogenicity,648735,,2,1461488,0.0000013684683008002802,0,0,nfe,2.999999999999999e-7,13.4,0.521,0.00,0.0200,0.307,0.160,0.00,0,33422,0,0,0,44630,0,0,0,26126,0,0,0,39690,0,0,0,53410,0,0,0,5766,0,0,2,1111924,0,0,,,,,0,86154,0,0,0,60366,0,0 -17-43091450-T-C,17,43091450,rs80357218,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Val,p.Met1361Val,c.4081A>G,missense_variant,Conflicting interpretations of pathogenicity,185881,,1,1461392,6.842790982843755e-7,0,0,,,0.0190,0.503,0.00,0.0100,-0.148,1.00,0.00,0,33412,0,0,0,44610,0,0,0,26126,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111900,0,0,,,,,0,86122,0,0,0,60360,0,0 -17-43091450-T-G,17,43091450,rs80357218,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1361Leu,p.Met1361Leu,c.4081A>C,missense_variant,Benign,55099,,8,1613610,0.000004957827479998264,0,0,amr,0.000022580000000000004,0.517,0.390,0.00,0.0100,-0.148,0.240,0.00,0,74864,0,0,4,59896,0,0,2,29598,0,0,0,44884,0,0,0,64028,0,0,0,6084,0,0,2,1179942,0,0,0,912,0,0,0,90952,0,0,0,62450,0,0 -17-43091451-G-A,17,43091451,rs2053471401,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1360Ser,p.Ser1360Ser,c.4080C>T,synonymous_variant,Likely benign,1737629,,1,833100,0.0000012003360941063497,0,0,,,6.85,,0.310,0.290,-0.114,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091456-G-T,17,43091456,rs80357456,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1359Lys,p.Gln1359Lys,c.4075C>A,missense_variant,Conflicting interpretations of pathogenicity,801073,,1,628254,0.0000015917129059265838,0,0,,,22.8,0.460,0.00,0.00,4.65,0.0100,0.0240,0,17618,0,0,1,43618,0,0,0,20974,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,0,349974,0,0,,,,,0,69666,0,0,0,33066,0,0 -17-43091458-T-C,17,43091458,rs397507225,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1358Gly,p.Glu1358Gly,c.4073A>G,missense_variant,Conflicting interpretations of pathogenicity,37562,,4,1613552,0.000002479002845895267,0,0,nfe,7.899999999999998e-7,21.1,0.402,0.180,-0.150,2.95,0.360,0.0570,0,74856,0,0,0,59872,0,0,0,29590,0,0,0,44894,0,0,0,64034,0,0,0,6084,0,0,4,1179890,0,0,0,912,0,0,0,90966,0,0,0,62454,0,0 -17-43091460-T-C,17,43091460,rs786201475,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1357Glu,p.Glu1357Glu,c.4071A>G,synonymous_variant,Likely benign,184458,,6,1461284,0.000004105978030280219,0,0,nfe,0.00000194,8.15,,0.0300,-0.0100,0.262,,,0,33390,0,0,0,44582,0,0,0,26122,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,6,1111834,0,0,,,,,0,86134,0,0,0,60356,0,0 -17-43091462-CTTGA-C,17,43091462,rs80357508,CTTGA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1355LysfsTer10,p.Asn1355LysfsTer10,c.4065_4068del,frameshift_variant,Pathogenic,17674,lof_flag,53,1613548,0.000032846869135594356,0,0,nfe,0.00003179,32.0,,0.140,-0.0900,2.60,,,0,74846,0,0,0,59876,0,0,0,29590,0,0,1,44886,0,0,0,64028,0,0,0,6082,0,0,49,1179898,0,0,0,912,0,0,3,90982,0,0,0,62448,0,0 -17-43091463-T-C,17,43091463,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1356Gln,p.Gln1356Gln,c.4068A>G,synonymous_variant,,,,3,833026,0.000003601328169829033,0,0,nfe,0.00000105,9.28,,0.140,-0.100,-0.460,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761820,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091464-T-G,17,43091464,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1356Pro,p.Gln1356Pro,c.4067A>C,missense_variant,,,,1,628206,0.000001591834525617393,0,0,,,22.7,0.617,0.0400,-0.0200,0.0550,0.0100,0.00,0,17596,0,0,0,43608,0,0,0,20972,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,349936,0,0,,,,,0,69688,0,0,0,33064,0,0 -17-43091465-GATT-G,17,43091465,rs80358341,GATT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355del,p.Asn1355del,c.4063_4065del,inframe_deletion,Conflicting interpretations of pathogenicity,55093,,6,1461216,0.000004106169108468563,0,0,nfe,0.0000013199999999999999,8.42,,0.00,0.0300,-0.613,,,0,33386,0,0,0,44582,0,0,0,26126,0,0,0,39690,0,0,0,53412,0,0,0,5768,0,0,5,1111754,0,0,,,,,0,86138,0,0,1,60360,0,0 -17-43091466-A-G,17,43091466,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355Asn,p.Asn1355Asn,c.4065T>C,synonymous_variant,,,,2,628178,0.0000031838109580405556,0,0,,,5.43,,0.00,0.0100,0.175,,,0,17598,0,0,0,43606,0,0,0,20972,0,0,1,36062,0,0,0,53136,0,0,0,4146,0,0,0,349920,0,0,,,,,1,69674,0,0,0,33064,0,0 -17-43091468-T-C,17,43091468,rs876660530,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355Asp,p.Asn1355Asp,c.4063A>G,missense_variant,Conflicting interpretations of pathogenicity,233624,,1,833102,0.0000012003332124997898,0,0,,,11.8,0.431,0.0200,0.0200,0.107,0.260,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761898,0,0,,,,,1,16460,0,0,0,27296,0,0 -17-43091469-A-T,17,43091469,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1354Lys,p.Asn1354Lys,c.4062T>A,missense_variant,,,,1,628162,0.000001591946026661912,0,0,,,16.9,0.409,0.00,0.0100,0.280,0.0100,0.00600,0,17594,0,0,0,43602,0,0,0,20972,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,349874,0,0,,,,,0,69712,0,0,0,33066,0,0 -17-43091471-T-C,17,43091471,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1354Asp,p.Asn1354Asp,c.4060A>G,missense_variant,,,,1,628150,0.0000015919764387487064,0,0,,,7.91,0.330,0.0400,0.0400,3.26,1.00,0.00,0,17594,0,0,0,43608,0,0,0,20968,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,1,349878,0,0,,,,,0,69702,0,0,0,33054,0,0 -17-43091474-C-A,17,43091474,rs80357178,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1353Ter,p.Glu1353Ter,c.4057G>T,stop_gained,Pathogenic,55090,lof_flag,1,1461202,6.843680750505405e-7,0,0,,,38.0,,0.300,-0.420,4.72,,,0,33382,0,0,0,44586,0,0,0,26122,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,1,1111708,0,0,,,,,0,86174,0,0,0,60362,0,0 -17-43091474-C-T,17,43091474,rs80357178,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1353Lys,p.Glu1353Lys,c.4057G>A,missense_variant,Conflicting interpretations of pathogenicity,655565,,1,1461202,6.843680750505405e-7,0,0,,,23.5,0.506,0.170,-0.130,4.72,0.00,0.214,0,33382,0,0,0,44586,0,0,0,26122,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,0,1111708,0,0,,,,,0,86174,0,0,1,60362,0,0 -17-43091477-C-G,17,43091477,rs80357202,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1352Gln,p.Glu1352Gln,c.4054G>C,missense_variant,Conflicting interpretations of pathogenicity,481150,,1,1461290,6.843268618823094e-7,0,0,,,22.4,0.330,0.100,-0.0700,4.11,0.130,0.0460,0,33396,0,0,0,44608,0,0,0,26126,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111724,0,0,,,,,0,86202,0,0,0,60370,0,0 -17-43091477-C-T,17,43091477,rs80357202,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1352Lys,p.Glu1352Lys,c.4054G>A,missense_variant,Conflicting interpretations of pathogenicity,55089,,4,1461290,0.0000027373074475292377,0,0,nfe,8.4e-7,24.1,0.393,0.110,-0.0800,4.11,0.00,0.366,0,33396,0,0,0,44608,0,0,0,26126,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,4,1111724,0,0,,,,,0,86202,0,0,0,60370,0,0 -17-43091479-A-G,17,43091479,rs397509132,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1351Ser,p.Leu1351Ser,c.4052T>C,missense_variant,,,,1,628126,0.0000015920372664083322,0,0,,,20.8,0.554,0.0100,0.0300,1.37,0.00,0.0380,0,17604,0,0,0,43614,0,0,0,20974,0,0,0,36056,0,0,0,53140,0,0,0,4146,0,0,0,349786,0,0,,,,,1,69740,0,0,0,33066,0,0 -17-43091480-A-G,17,43091480,rs139858874,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1351Leu,p.Leu1351Leu,c.4051T>C,synonymous_variant,Likely benign,427347,,1,152198,0.000006570388572780194,0,0,,,2.84,,0.0100,0.0100,1.13,,,1,41442,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43091481-G-C,17,43091481,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Gly,p.Gly1350Gly,c.4050C>G,synonymous_variant,Likely benign,1737364,,1,1461264,6.84339037983554e-7,0,0,,,2.17,,0.160,-0.120,1.51,,,1,33400,0,0,0,44626,0,0,0,26126,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,0,1111664,0,0,,,,,0,86214,0,0,0,60370,0,0 -17-43091481-G-A,17,43091481,rs779507799,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Gly,p.Gly1350Gly,c.4050C>T,synonymous_variant,Likely benign,427308,,3,1461264,0.0000020530171139506617,0,0,eas,0.00002004,1.41,,0.0700,-0.0600,1.51,,,0,33400,0,0,0,44626,0,0,0,26126,0,0,3,39686,0,0,0,53412,0,0,0,5766,0,0,0,1111664,0,0,,,,,0,86214,0,0,0,60370,0,0 -17-43091482-C-T,17,43091482,rs1433564897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Asp,p.Gly1350Asp,c.4049G>A,missense_variant,,,,1,628130,0.0000015920271281422635,0,0,,,0.193,0.541,0.0300,0.0500,0.434,0.560,0.00,0,17614,0,0,0,43640,0,0,0,20972,0,0,0,36054,0,0,0,53134,0,0,0,4146,0,0,1,349740,0,0,,,,,0,69762,0,0,0,33068,0,0 -17-43091483-C-A,17,43091483,rs748674194,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Cys,p.Gly1350Cys,c.4048G>T,missense_variant,Conflicting interpretations of pathogenicity,231563,,5,1461206,0.0000034218310080851025,0,0,eas,0.00004907999999999998,2.48,0.507,0.0100,0.0200,0.371,0.290,0.319,0,33402,0,0,0,44620,0,0,0,26124,0,0,5,39686,0,0,0,53410,0,0,0,5766,0,0,0,1111628,0,0,,,,,0,86208,0,0,0,60362,0,0 -17-43091483-C-T,17,43091483,rs748674194,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Ser,p.Gly1350Ser,c.4048G>A,missense_variant,Conflicting interpretations of pathogenicity,1376445,,1,1461206,6.843662016170205e-7,0,0,,,0.776,0.551,0.0100,0.0200,0.371,0.510,0.00300,0,33402,0,0,0,44620,0,0,0,26124,0,0,1,39686,0,0,0,53410,0,0,0,5766,0,0,0,1111628,0,0,,,,,0,86208,0,0,0,60362,0,0 -17-43091484-C-G,17,43091484,rs758515222,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Thr,p.Thr1349Thr,c.4047G>C,synonymous_variant,,,,2,1613412,0.0000012396089777440604,0,0,,,0.182,,0.0300,0.0600,-0.582,,,0,74866,0,0,0,59886,0,0,0,29592,0,0,0,44882,0,0,0,64032,0,0,0,6082,0,0,0,1179654,0,0,0,912,0,0,2,91046,0,0,0,62460,0,0 -17-43091484-C-T,17,43091484,rs758515222,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Thr,p.Thr1349Thr,c.4047G>A,synonymous_variant,Likely benign,219948,,9,1613412,0.000005578240399848272,0,0,amr,0.0000133,0.210,,0.00,-0.0400,-0.582,,,1,74866,0,0,3,59886,0,0,0,29592,0,0,0,44882,0,0,0,64032,0,0,0,6082,0,0,4,1179654,0,0,0,912,0,0,1,91046,0,0,0,62460,0,0 -17-43091485-G-C,17,43091485,rs80357345,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1349Arg,p.Thr1349Arg,c.4046C>G,missense_variant,Conflicting interpretations of pathogenicity,462629,,5,1461180,0.0000034218918955912347,0,0,nfe,0.0000013199999999999999,5.89,0.551,0.180,-0.140,-0.0690,0.0600,0.0760,0,33398,0,0,0,44622,0,0,0,26122,0,0,0,39684,0,0,0,53408,0,0,0,5766,0,0,5,1111590,0,0,,,,,0,86220,0,0,0,60370,0,0 -17-43091485-G-A,17,43091485,rs80357345,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Met,p.Thr1349Met,c.4046C>T,missense_variant,Benign,55085,,36,1613400,0.000022313127556712532,0,0,afr,0.00011207999999999998,15.0,0.434,0.0700,-0.0600,-0.0690,0.0400,0.107,14,74926,0,0,0,59904,0,0,0,29592,0,0,0,44870,0,0,0,64000,0,0,0,6060,0,0,11,1179612,0,0,0,912,0,0,6,91042,0,0,5,62482,0,0 -17-43091486-T-C,17,43091486,rs80357231,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1349Ala,p.Thr1349Ala,c.4045A>G,missense_variant,Conflicting interpretations of pathogenicity,462628,,1,1461176,6.843802526184389e-7,0,0,,,0.0340,0.465,0.0100,-0.0100,-2.73,0.420,0.00100,0,33394,0,0,0,44616,0,0,0,26122,0,0,0,39684,0,0,0,53406,0,0,0,5766,0,0,1,1111594,0,0,,,,,0,86224,0,0,0,60370,0,0 -17-43091486-T-G,17,43091486,rs80357231,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Pro,p.Thr1349Pro,c.4045A>C,missense_variant,Conflicting interpretations of pathogenicity,55084,,27,1613404,0.000016734804177998816,0,0,nfe,6.800000000000001e-7,0.0770,0.491,0.0100,0.0200,-2.73,0.350,0.00,0,74852,0,0,0,59904,0,0,0,29590,0,0,0,44882,0,0,21,64032,0,0,1,6082,0,0,3,1179636,0,0,0,912,0,0,1,91054,0,0,1,62460,0,0 -17-43091488-CCT-C,17,43091488,rs80357727,CCT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1348AsnfsTer7,p.Gly1348AsnfsTer7,c.4041_4042del,frameshift_variant,Pathogenic,55082,lof_flag,1,152214,0.0000065696979252893955,0,0,,,24.4,,0.00,-0.190,1.50,,,1,41456,0,0,0,15284,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43091490-T-C,17,43091490,rs2053479978,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Arg,p.Arg1347Arg,c.4041A>G,synonymous_variant,,,,1,833104,0.0000012003303309070656,0,0,,,5.96,,0.00,-0.140,2.42,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091491-C-T,17,43091491,rs80357210,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Lys,p.Arg1347Lys,c.4040G>A,missense_variant,Conflicting interpretations of pathogenicity,55081,,2,1461172,0.0000013687642522577765,0,0,,,16.8,0.575,0.00,0.0100,2.14,0.0300,0.0240,1,33400,0,0,0,44630,0,0,0,26122,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,1,1111568,0,0,,,,,0,86224,0,0,0,60364,0,0 -17-43091492-T-C,17,43091492,rs28897689,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1347Gly,p.Arg1347Gly,c.4039A>G,missense_variant,Benign,41821,,9320,1613538,0.005776126747557232,40,0,nfe,0.0070612,22.2,0.527,0.0100,0.0100,1.01,0.0900,0.0710,92,74984,0,0,124,59938,0,0,31,29594,0,0,0,44874,0,0,151,64030,2,0,2,6060,0,0,8481,1179610,35,0,30,912,1,0,93,91060,2,0,316,62476,0,0 -17-43091492-T-A,17,43091492,rs28897689,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Ter,p.Arg1347Ter,c.4039A>T,stop_gained,Pathogenic,531295,lof_flag,1,1461176,6.843802526184389e-7,0,0,,,35.0,,0.00,-0.180,1.01,,,0,33398,0,0,0,44628,0,0,0,26122,0,0,0,39686,0,0,0,53406,0,0,0,5766,0,0,0,1111578,0,0,,,,,1,86228,0,0,0,60364,0,0 -17-43091494-T-C,17,43091494,rs2053481117,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1346Gly,p.Glu1346Gly,c.4037A>G,missense_variant,Conflicting interpretations of pathogenicity,1022374,,1,833102,0.0000012003332124997898,0,0,,,24.4,0.500,0.00,-0.0300,2.89,0.00,0.0530,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091495-C-T,17,43091495,rs80357407,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1346Lys,p.Glu1346Lys,c.4036G>A,missense_variant,Benign/Likely benign,37561,,69,1613396,0.000042766933846371254,0,0,nfe,0.00004537,21.7,0.546,0.00,-0.0700,3.60,0.0400,0.00300,0,74870,0,0,0,59914,0,0,0,29600,0,0,0,44884,0,0,0,64016,0,0,0,6082,0,0,67,1179598,0,0,0,912,0,0,0,91062,0,0,2,62458,0,0 -17-43091495-CT-C,17,43091495,rs80357711,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1346LysfsTer20,p.Glu1346LysfsTer20,c.4035del,frameshift_variant,Pathogenic,37560,lof_flag,18,1613396,0.000011156591438183806,0,0,nfe,0.00000878,20.5,,0.00,-0.260,3.60,,,0,74870,0,0,0,59914,0,0,0,29600,0,0,0,44884,0,0,0,64016,0,0,0,6082,0,0,17,1179598,0,0,0,912,0,0,0,91062,0,0,1,62458,0,0 -17-43091497-T-C,17,43091497,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1345Gly,p.Glu1345Gly,c.4034A>G,missense_variant,,,,1,628086,0.0000015921386561712887,0,0,,,23.7,0.467,0.00,-0.0800,4.18,0.0500,0.150,0,17618,0,0,0,43646,0,0,0,20976,0,0,0,36054,0,0,0,53136,0,0,0,4146,0,0,1,349678,0,0,,,,,0,69764,0,0,0,33068,0,0 -17-43091499-A-T,17,43091499,rs769589630,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1344Glu,p.Asp1344Glu,c.4032T>A,missense_variant,Conflicting interpretations of pathogenicity,917791,,2,628094,0.000003184236754371161,0,0,nfe,9.5e-7,17.5,0.497,0.00,0.0200,0.200,0.0400,0.00,0,17620,0,0,0,43650,0,0,0,20976,0,0,0,36056,0,0,0,53134,0,0,0,4146,0,0,2,349676,0,0,,,,,0,69768,0,0,0,33068,0,0 -17-43091500-T-C,17,43091500,rs55639854,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1344Gly,p.Asp1344Gly,c.4031A>G,missense_variant,Conflicting interpretations of pathogenicity,55077,,4,1613426,0.0000024791964428489438,0,0,nfe,7.899999999999998e-7,23.8,0.471,0.00,-0.0500,1.25,0.0400,0.150,0,74874,0,0,0,59916,0,0,0,29598,0,0,0,44884,0,0,0,64032,0,0,0,6082,0,0,4,1179612,0,0,0,912,0,0,0,91054,0,0,0,62462,0,0 -17-43091503-T-A,17,43091503,rs775339017,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1343Val,p.Asp1343Val,c.4028A>T,missense_variant,Conflicting interpretations of pathogenicity,409318,,2,780568,0.0000025622367301759743,0,0,,,21.7,0.575,0.00,-0.0500,0.113,0.00,0.946,0,59112,0,0,2,58982,0,0,0,24448,0,0,0,41258,0,0,0,63764,0,0,0,4462,0,0,0,417838,0,0,0,912,0,0,0,74622,0,0,0,35170,0,0 -17-43091505-T-G,17,43091505,rs80356828,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1342Ser,p.Ser1342Ser,c.4026A>C,synonymous_variant,Likely benign,427262,,5,1613810,0.0000030982581592628623,0,0,,,6.49,,0.00,0.0900,0.0150,,,2,75026,0,0,0,59988,0,0,0,29598,0,0,0,44880,0,0,0,64034,0,0,3,6060,0,0,0,1179744,0,0,0,912,0,0,0,91078,0,0,0,62490,0,0 -17-43091505-T-C,17,43091505,rs80356828,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1342Ser,p.Ser1342Ser,c.4026A>G,synonymous_variant,Likely benign,55076,,2,1461422,0.0000013685301028724078,0,0,nfe,2.999999999999999e-7,6.81,,0.00,0.0800,0.0150,,,0,33432,0,0,0,44678,0,0,0,26126,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,2,1111704,0,0,,,,,0,86244,0,0,0,60374,0,0 -17-43091510-C-T,17,43091510,rs762908108,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1341Ile,p.Val1341Ile,c.4021G>A,missense_variant,Conflicting interpretations of pathogenicity,479257,,2,628402,0.0000031826760576828207,0,0,nfe,9.5e-7,2.80,0.529,0.00,0.0200,0.322,0.490,0.0430,0,17656,0,0,0,43698,0,0,0,20978,0,0,0,36058,0,0,0,53136,0,0,0,4146,0,0,2,349860,0,0,,,,,0,69784,0,0,0,33086,0,0 -17-43091511-C-A,17,43091511,rs1555586637,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1340Phe,p.Leu1340Phe,c.4020G>T,missense_variant,Conflicting interpretations of pathogenicity,441310,,1,833102,0.0000012003332124997898,0,0,,,16.9,0.550,0.270,0.190,0.999,0.0500,0.143,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091513-A-G,17,43091513,rs786201646,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1340Leu,p.Leu1340Leu,c.4018T>C,synonymous_variant,Likely benign,184728,,1,628444,0.0000015912316769672397,0,0,,,1.38,,0.00,0.0500,0.0610,,,0,17660,0,0,1,43708,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,0,349876,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43091516-C-T,17,43091516,rs80357021,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1339Lys,p.Glu1339Lys,c.4015G>A,missense_variant,Conflicting interpretations of pathogenicity,182157,,1,628444,0.0000015912316769672397,0,0,,,18.0,0.536,0.0200,0.0300,4.84,0.0800,0.0620,0,17664,0,0,0,43708,0,0,0,20976,0,0,0,36058,0,0,0,53134,0,0,0,4146,0,0,1,349874,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43091516-C-A,17,43091516,rs80357021,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1339Ter,p.Glu1339Ter,c.4015G>T,stop_gained,Pathogenic,37559,lof_flag,1,628444,0.0000015912316769672397,0,0,,,36.0,,0.0400,-0.230,4.84,,,0,17664,0,0,1,43708,0,0,0,20976,0,0,0,36058,0,0,0,53134,0,0,0,4146,0,0,0,349874,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43091520-G-A,17,43091520,rs80356886,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1337Asp,p.Asp1337Asp,c.4011C>T,synonymous_variant,Likely benign,928040,,4,1461590,0.0000027367455989709835,0,0,afr,0.00002376,4.92,,0.00,-0.0800,0.197,,,3,33452,0,0,0,44698,0,0,0,26130,0,0,0,39688,0,0,0,53412,0,0,0,5766,0,0,0,1111802,0,0,,,,,0,86248,0,0,1,60394,0,0 -17-43091522-CACTCAGACCA-C,17,43091522,rs754792932,CACTCAGACCA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1334ThrfsTer29,p.Gly1334ThrfsTer29,c.3999_4008del,frameshift_variant,Pathogenic,254448,lof_flag,1,628526,0.000001591024078558405,0,0,,,31.0,,0.00,-0.140,5.96,,,0,17672,0,0,0,43716,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,1,349932,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43091522-C-A,17,43091522,rs886041144,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1337Tyr,p.Asp1337Tyr,c.4009G>T,missense_variant,Uncertain significance,2580697,,1,628526,0.000001591024078558405,0,0,,,24.0,0.595,0.00,-0.0400,5.96,0.00,0.254,0,17672,0,0,1,43716,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,0,349932,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43091525-T-A,17,43091525,rs976725810,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1336Cys,p.Ser1336Cys,c.4006A>T,missense_variant,Conflicting interpretations of pathogenicity,489719,,14,1613904,0.000008674617573288126,0,0,nfe,0.00000542,24.5,0.465,0.00,-0.0400,2.90,0.00,0.408,0,74912,0,0,0,60000,0,0,0,29602,0,0,0,44894,0,0,0,64038,0,0,0,6080,0,0,12,1179888,0,0,0,912,0,0,0,91090,0,0,2,62488,0,0 -17-43091533-A-G,17,43091533,rs1135401872,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1333Ala,p.Val1333Ala,c.3998T>C,missense_variant,Conflicting interpretations of pathogenicity,431258,,3,780828,0.000003842075335413177,0,0,nfe,8e-7,7.62,0.547,0.00,0.0400,0.276,0.560,0.164,1,59114,0,0,0,59000,0,0,0,24448,0,0,0,41256,0,0,0,63746,0,0,0,4464,0,0,2,418082,0,0,0,912,0,0,0,74624,0,0,0,35182,0,0 -17-43091536-C-A,17,43091536,rs730881490,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1332Val,p.Gly1332Val,c.3995G>T,missense_variant,Conflicting interpretations of pathogenicity,182156,,10,1614060,0.000006195556546844603,0,0,sas,0.00003586999999999999,18.4,0.498,0.0100,-0.0700,1.88,0.0200,0.0150,0,74938,0,0,0,60002,0,0,0,29604,0,0,0,44898,0,0,0,64032,0,0,0,6084,0,0,3,1180012,0,0,0,912,0,0,7,91090,0,0,0,62488,0,0 -17-43091539-T-C,17,43091539,rs1060502363,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1331Arg,p.Gln1331Arg,c.3992A>G,missense_variant,Conflicting interpretations of pathogenicity,409366,,5,628752,0.00000795226098684378,0,0,sas,0.000027920000000000004,15.2,0.529,0.00,0.100,2.26,0.150,0.0240,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,0,350090,0,0,,,,,5,69798,0,0,0,33098,0,0 -17-43091541-G-C,17,43091541,rs876660808,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Arg,p.Ser1330Arg,c.3990C>G,missense_variant,Conflicting interpretations of pathogenicity,1464112,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,16.6,0.518,0.00,-0.100,0.508,0.0600,0.0790,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091542-C-T,17,43091542,rs773709174,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Asn,p.Ser1330Asn,c.3989G>A,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,0.327,0.255,0.0100,0.0500,-0.468,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091543-T-A,17,43091543,rs1555586688,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Cys,p.Ser1330Cys,c.3988A>T,missense_variant,Conflicting interpretations of pathogenicity,462627,,2,1461872,0.000001368108835794105,0,0,,,22.4,0.411,0.00,0.0100,1.06,0.0100,0.527,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43091551-T-C,17,43091551,rs730881444,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1327Arg,p.Gln1327Arg,c.3980A>G,missense_variant,Conflicting interpretations of pathogenicity,182079,,1,628764,0.0000015904218434897671,0,0,,,15.8,0.522,0.00,0.0600,0.328,0.330,0.702,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091552-G-A,17,43091552,rs876659720,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1327Ter,p.Gln1327Ter,c.3979C>T,stop_gained,Pathogenic,232360,lof_flag,1,833106,0.0000012003274493281767,0,0,,,35.0,,0.0200,-0.390,3.33,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091555-G-A,17,43091555,rs1567789376,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1326Tyr,p.His1326Tyr,c.3976C>T,missense_variant,Conflicting interpretations of pathogenicity,572521,,1,628766,0.0000015904167846225783,0,0,,,2.52,0.511,0.0200,-0.0900,-0.329,0.150,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091556-C-A,17,43091556,rs761424661,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1325Ser,p.Arg1325Ser,c.3975G>T,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,5.14,0.529,0.00,0.0500,-0.408,0.460,0.130,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091556-C-T,17,43091556,rs761424661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1325Arg,p.Arg1325Arg,c.3975G>A,synonymous_variant,Likely benign,415574,,4,1461876,0.0000027362101847215495,0,0,eas,0.00000835,2.98,,0.00,0.0600,-0.408,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53414,0,0,0,5768,0,0,1,1112006,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43091561-T-G,17,43091561,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1324Leu,p.Met1324Leu,c.3970A>C,missense_variant,,,,1,628766,0.0000015904167846225783,0,0,,,5.00,0.382,0.00,0.0700,-0.0570,0.270,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091564-G-A,17,43091564,rs80357262,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1323Ter,p.Gln1323Ter,c.3967C>T,stop_gained,Pathogenic,55062,lof_flag,1,628764,0.0000015904218434897671,0,0,,,36.0,,0.00,-0.230,5.59,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091566-T-C,17,43091566,rs80357042,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1322Arg,p.Lys1322Arg,c.3965A>G,missense_variant,Conflicting interpretations of pathogenicity,481448,,3,628766,0.000004771250353867735,0,0,nfe,9.5e-7,24.7,0.497,0.490,0.360,2.31,0.0500,0.346,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,2,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091566-T-G,17,43091566,rs80357042,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1322Thr,p.Lys1322Thr,c.3965A>C,missense_variant,Conflicting interpretations of pathogenicity,185202,,1,152214,0.0000065696979252893955,0,0,,,24.0,0.507,0.00,-0.0200,2.31,,,0,41448,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10630,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43091567-T-G,17,43091567,rs80357343,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1322Gln,p.Lys1322Gln,c.3964A>C,missense_variant,Conflicting interpretations of pathogenicity,231080,,1,152226,0.000006569180034948038,0,0,,,19.9,0.517,0.00,-0.0200,0.552,,,1,41460,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43091567-T-C,17,43091567,rs80357343,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1322Glu,p.Lys1322Glu,c.3964A>G,missense_variant,Conflicting interpretations of pathogenicity,232294,,4,1461878,0.0000027362064413035835,0,0,nfe,8.4e-7,20.5,0.526,0.00,0.0700,0.552,0.160,0.0180,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,4,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091569-G-A,17,43091569,rs386833394,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Phe,p.Ser1321Phe,c.3962C>T,missense_variant,Conflicting interpretations of pathogenicity,1310290,,1,628766,0.0000015904167846225783,0,0,,,24.6,0.508,0.00,-0.0800,6.99,0.00,0.862,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091569-G-C,17,43091569,rs386833394,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Cys,p.Ser1321Cys,c.3962C>G,missense_variant,Conflicting interpretations of pathogenicity,41820,,1,628766,0.0000015904167846225783,0,0,,,24.7,0.505,0.00,-0.0700,6.99,0.0900,0.894,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091569-G-T,17,43091569,rs386833394,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Tyr,p.Ser1321Tyr,c.3962C>A,missense_variant,Conflicting interpretations of pathogenicity,142790,,7,628766,0.000011132917492358048,0,0,nfe,0.00000931,24.5,0.549,0.00,-0.0800,6.99,0.00,0.809,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,7,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091572-G-C,17,43091572,rs2053494663,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1320Cys,p.Ser1320Cys,c.3959C>G,missense_variant,Conflicting interpretations of pathogenicity,1042860,,1,628762,0.0000015904269023891392,0,0,,,15.5,0.498,0.00,-0.0500,1.81,0.120,0.408,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091575-C-T,17,43091575,rs587782634,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1319Asp,p.Gly1319Asp,c.3956G>A,missense_variant,Conflicting interpretations of pathogenicity,142673,,1,152178,0.000006571252086372537,0,0,,,2.80,0.498,0.00,0.0500,-0.138,,,1,41440,0,0,0,15272,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 -17-43091577-A-C,17,43091577,rs750107618,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1318Met,p.Ile1318Met,c.3954T>G,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,4.17,0.596,0.00,-0.0200,-1.09,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091578-A-G,17,43091578,rs1388475291,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1318Thr,p.Ile1318Thr,c.3953T>C,missense_variant,Conflicting interpretations of pathogenicity,481166,,1,628770,0.000001590406666984748,0,0,,,20.7,0.513,0.00,0.0400,1.50,0.0100,0.0190,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091580-C-T,17,43091580,rs1060504566,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1317Leu,p.Leu1317Leu,c.3951G>A,synonymous_variant,Likely benign,415568,,1,152190,0.000006570733950982325,0,0,,,5.12,,0.00,-0.0700,0.762,,,1,41440,0,0,0,15266,0,0,0,3472,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43091583-G-A,17,43091583,rs2154275470,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1316Phe,p.Phe1316Phe,c.3948C>T,synonymous_variant,Likely benign,1130505,,1,628760,0.0000015904319613206948,0,0,,,6.74,,0.00,-0.0400,0.961,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,1,33096,0,0 -17-43091587-G-C,17,43091587,rs80357500,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1315Arg,p.Pro1315Arg,c.3944C>G,missense_variant,Conflicting interpretations of pathogenicity,96921,,2,780974,0.0000025609047164182162,0,0,,,22.7,0.438,0.0400,0.0400,1.58,0.0100,0.493,1,59150,0,0,0,59014,0,0,0,24454,0,0,0,41258,0,0,0,63760,0,0,0,4464,0,0,1,418144,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 -17-43091593-T-C,17,43091593,rs765729710,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Arg,p.Gln1313Arg,c.3938A>G,missense_variant,Conflicting interpretations of pathogenicity,440470,,4,1461874,0.0000027362139281497583,0,0,nfe,7.200000000000001e-7,22.6,0.536,0.0900,0.0500,0.982,0.110,0.622,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43091594-G-C,17,43091594,rs80357318,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Glu,p.Gln1313Glu,c.3937C>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,22.4,0.519,0.150,0.110,7.00,0.140,0.275,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091594-G-A,17,43091594,rs80357318,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Ter,p.Gln1313Ter,c.3937C>T,stop_gained,Pathogenic,37556,lof_flag,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,36.0,,0.00,-0.210,7.00,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091595-G-A,17,43091595,rs753210219,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1312Thr,p.Thr1312Thr,c.3936C>T,synonymous_variant,Likely benign,427364,,1,628760,0.0000015904319613206948,0,0,,,6.66,,0.00,-0.0400,0.479,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33096,0,0 -17-43091602-G-A,17,43091602,rs80357257,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1310Ile,p.Thr1310Ile,c.3929C>T,missense_variant,Conflicting interpretations of pathogenicity,409324,,3,1461870,0.0000020521660612776786,0,0,eas,0.00000835,23.4,0.463,0.00,-0.0200,3.41,0.0100,0.493,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53410,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43091602-G-T,17,43091602,rs80357257,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1310Lys,p.Thr1310Lys,c.3929C>A,missense_variant,Conflicting interpretations of pathogenicity,55053,,63,1614078,0.00003903157096497195,1,0,amr,0.0006486200000000003,18.8,0.535,0.00,0.00,3.41,0.0700,0.366,0,74932,0,0,50,60004,1,0,0,29604,0,0,0,44896,0,0,0,64026,0,0,0,6084,0,0,11,1180042,0,0,0,912,0,0,0,91094,0,0,2,62484,0,0 -17-43091603-T-A,17,43091603,rs2053499046,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1310Ser,p.Thr1310Ser,c.3928A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,14.2,0.552,0.00,0.0200,-0.562,0.120,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091604-A-G,17,43091604,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Asn,p.Asn1309Asn,c.3927T>C,synonymous_variant,,,,1,628764,0.0000015904218434897671,0,0,,,7.91,,0.0400,-0.0200,-0.153,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091605-T-C,17,43091605,rs2053499342,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Ser,p.Asn1309Ser,c.3926A>G,missense_variant,Conflicting interpretations of pathogenicity,942423,,1,833110,0.0000012003216862119048,0,0,,,22.4,0.385,0.0600,0.0300,2.34,0.0100,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091606-T-C,17,43091606,rs2053499636,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Asp,p.Asn1309Asp,c.3925A>G,missense_variant,Conflicting interpretations of pathogenicity,928511,,1,628768,0.0000015904117257875718,0,0,,,22.8,0.362,0.0600,0.0600,0.164,0.0200,0.444,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53140,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091610-A-G,17,43091610,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1307Thr,p.Thr1307Thr,c.3921T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.04,,0.0400,0.0200,-1.35,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091613-C-A,17,43091613,rs786202068,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1306Phe,p.Leu1306Phe,c.3918G>T,missense_variant,Likely benign,1285144,,3,628762,0.000004771280707167418,0,0,nfe,0.00000228,19.2,0.445,0.00,-0.0500,-0.526,0.180,0.770,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,3,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091617-T-A,17,43091617,rs431825402,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1305Val,p.Asp1305Val,c.3914A>T,missense_variant,Conflicting interpretations of pathogenicity,96920,,2,628766,0.0000031808335692451565,0,0,nfe,9.5e-7,23.7,0.575,0.00,-0.110,2.32,0.00,0.0310,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091621-C-G,17,43091621,rs886038028,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1304Gln,p.Glu1304Gln,c.3910G>C,missense_variant,,,,3,1461876,0.000002052157638541162,0,0,nfe,7.200000000000001e-7,22.2,0.449,0.00,-0.100,4.17,0.130,0.643,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091622-C-T,17,43091622,rs1597860507,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1303Leu,p.Leu1303Leu,c.3909G>A,synonymous_variant,Likely benign,811551,,1,152202,0.000006570215897294385,0,0,,,4.34,,0.00,-0.0700,-1.71,,,1,41448,0,0,0,15274,0,0,0,3470,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43091623-A-G,17,43091623,rs2154277653,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1303Ser,p.Leu1303Ser,c.3908T>C,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,14.1,0.363,0.0700,0.0500,0.132,0.200,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091627-C-A,17,43091627,rs80357461,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1302Ter,p.Glu1302Ter,c.3904G>T,stop_gained,Pathogenic,55045,lof_flag,1,628770,0.000001590406666984748,0,0,,,34.0,,0.00,-0.240,0.982,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091629-C-A,17,43091629,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1301Ile,p.Ser1301Ile,c.3902G>T,missense_variant,,,,1,1461874,6.840534820374396e-7,0,0,,,24.4,0.505,0.0400,0.0500,2.98,0.00,0.294,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091629-C-T,17,43091629,rs1057519496,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1301Asn,p.Ser1301Asn,c.3902G>A,missense_variant,Conflicting interpretations of pathogenicity,375449,,13,1614108,0.000008053983996114262,0,0,nfe,0.00000615,18.6,0.358,0.0500,0.0600,2.98,0.380,0.366,0,74944,0,0,0,60010,0,0,0,29604,0,0,0,44892,0,0,0,64040,0,0,0,6084,0,0,13,1180048,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43091630-T-G,17,43091630,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1301Arg,p.Ser1301Arg,c.3901A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,24.9,0.458,0.190,0.130,2.29,0.00,0.648,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091631-G-A,17,43091631,rs730881454,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1300Cys,p.Cys1300Cys,c.3900C>T,synonymous_variant,Likely benign,182095,,3,780942,0.00000384151447866807,0,0,nfe,0.0000019100000000000003,9.02,,0.00,-0.0600,0.616,,,0,59142,0,0,0,59020,0,0,0,24452,0,0,0,41260,0,0,0,63746,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 -17-43091632-C-G,17,43091632,rs2154278152,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1300Ser,p.Cys1300Ser,c.3899G>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,6.87,0.375,0.00,-0.0200,-0.197,0.850,0.0190,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091634-C-T,17,43091634,rs398122678,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1299Gln,p.Gln1299Gln,c.3897G>A,synonymous_variant,Likely benign,379171,,3,1461876,0.000002052157638541162,0,0,nfe,7.200000000000001e-7,8.51,,0.0300,0.100,2.49,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,3,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091636-G-A,17,43091636,rs80357038,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1299Ter,p.Gln1299Ter,c.3895C>T,stop_gained,Pathogenic,55040,lof_flag,1,628768,0.0000015904117257875718,0,0,,,39.0,,0.00,-0.200,7.00,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091637-TGAA-T,17,43091637,rs80358339,TGAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1298del,p.Ser1298del,c.3891_3893del,inframe_deletion,Uncertain significance,55038,,14,1461874,0.000009576748748524155,0,0,nfe,0.00000731,19.8,,0.00,-0.140,-0.639,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,14,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091638-G-A,17,43091638,rs80357440,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1298Leu,p.Ser1298Leu,c.3893C>T,missense_variant,Conflicting interpretations of pathogenicity,245990,,2,780974,0.0000025609047164182162,0,0,,,30.0,0.567,0.220,0.190,6.96,0.00,0.779,2,59150,0,0,0,59018,0,0,0,24452,0,0,0,41266,0,0,0,63760,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74630,0,0,0,35192,0,0 -17-43091642-A-T,17,43091642,rs1450793674,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1297Thr,p.Ser1297Thr,c.3889T>A,missense_variant,Conflicting interpretations of pathogenicity,481466,,3,781000,0.000003841229193341869,0,0,amr,0.00001349,25.8,0.678,0.00,-0.100,3.68,0.00,0.444,0,59160,0,0,3,59020,0,0,0,24454,0,0,0,41264,0,0,0,63762,0,0,0,4464,0,0,0,418142,0,0,0,912,0,0,0,74630,0,0,0,35192,0,0 -17-43091643-A-C,17,43091643,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1296Leu,p.Phe1296Leu,c.3888T>G,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,24.9,0.730,0.00,-0.0700,1.18,0.00,0.201,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091647-A-C,17,43091647,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1295Trp,p.Leu1295Trp,c.3884T>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,27.4,0.632,0.00,-0.0700,4.74,0.00,0.924,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091650-C-G,17,43091650,rs776996813,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1294Thr,p.Ser1294Thr,c.3881G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,25.6,0.471,0.570,0.560,5.94,0.00,0.867,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091651-TAGC-T,17,43091651,rs1555586867,TAGC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1293del,p.Ala1293del,c.3877_3879del,inframe_deletion,Uncertain significance,496373,,1,152216,0.0000065696116045619385,0,0,,,12.1,,0.240,0.160,6.36,,,1,41462,0,0,0,15282,0,0,0,3468,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43091653-G-A,17,43091653,rs80357213,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1293Val,p.Ala1293Val,c.3878C>T,missense_variant,Conflicting interpretations of pathogenicity,55036,,6,1461870,0.000004104332122555357,0,0,nfe,0.00000194,7.86,0.537,0.0300,0.0800,1.21,0.360,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,6,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091656-G-C,17,43091656,rs876658340,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1292Cys,p.Ser1292Cys,c.3875C>G,missense_variant,Conflicting interpretations of pathogenicity,576678,,1,833108,0.0000012003245677631232,0,0,,,26.3,0.550,0.0100,0.0700,8.80,0.00,0.956,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091658-A-C,17,43091658,rs1245187485,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1291Trp,p.Cys1291Trp,c.3873T>G,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,22.4,0.596,0.00,-0.0400,0.469,0.0300,0.693,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091659-C-T,17,43091659,rs781212379,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1291Tyr,p.Cys1291Tyr,c.3872G>A,missense_variant,Conflicting interpretations of pathogenicity,1462472,,10,1461868,0.000006840562896239606,0,0,sas,0.00004578999999999998,15.0,0.639,0.0300,0.0400,0.451,0.120,0.0110,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,2,1112002,0,0,,,,,8,86256,0,0,0,60396,0,0 -17-43091660-ATT-A,17,43091660,rs80357918,ATT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290MetfsTer4,p.Lys1290MetfsTer4,c.3869_3870del,frameshift_variant,Pathogenic,55032,lof_flag,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,23.6,,0.0400,0.140,1.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091662-T-G,17,43091662,rs431825401,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290Thr,p.Lys1290Thr,c.3869A>C,missense_variant,Conflicting interpretations of pathogenicity,96918,,12,833100,0.000014404033129276198,0,0,nfe,0.0000084,22.5,0.573,0.00,-0.0100,1.73,0.0100,0.0340,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,12,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091663-T-C,17,43091663,rs80357254,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290Glu,p.Lys1290Glu,c.3868A>G,missense_variant,Conflicting interpretations of pathogenicity,91617,,12,1461862,0.000008208709166802339,0,0,nfe,0.00000531,12.7,0.410,0.00,-0.0200,1.46,0.810,0.00100,0,33480,0,0,0,44724,0,0,1,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,11,1111998,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091664-T-C,17,43091664,rs1597860805,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Thr,p.Thr1289Thr,c.3867A>G,synonymous_variant,Likely benign,757707,,1,628758,0.0000015904370202844338,0,0,,,0.446,,0.00,0.00,-6.32,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,1,4148,0,0,0,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091665-G-T,17,43091665,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Lys,p.Thr1289Lys,c.3866C>A,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,14.4,0.448,0.0100,0.0100,-0.355,0.0300,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091665-G-A,17,43091665,rs2154280244,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Ile,p.Thr1289Ile,c.3866C>T,missense_variant,Conflicting interpretations of pathogenicity,1424409,,1,1461862,6.840590972335282e-7,0,0,,,5.26,0.452,0.0300,0.0500,-0.355,0.570,0.00900,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091666-T-G,17,43091666,rs1064795449,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Pro,p.Thr1289Pro,c.3865A>C,missense_variant,Conflicting interpretations of pathogenicity,421921,,1,628762,0.0000015904269023891392,0,0,,,3.80,0.530,0.00,-0.0100,0.0230,0.190,0.0620,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091669-CCTCA-C,17,43091669,rs80357842,CCTCA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286ArgfsTer20,p.Ser1286ArgfsTer20,c.3858_3861del,frameshift_variant,Pathogenic,37553,lof_flag,2,628756,0.0000031808841585607136,0,0,amr,0.000007580000000000001,31.0,,0.140,0.110,5.75,,,0,17694,0,0,2,43740,0,0,0,20982,0,0,0,36068,0,0,0,53134,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091672-C-T,17,43091672,rs1555586934,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1287Lys,p.Glu1287Lys,c.3859G>A,missense_variant,Conflicting interpretations of pathogenicity,440469,,1,833110,0.0000012003216862119048,0,0,,,24.5,0.516,0.0500,0.0600,3.37,0.0100,0.0460,0,15786,0,0,1,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091673-A-G,17,43091673,rs794726998,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286Ser,p.Ser1286Ser,c.3858T>C,synonymous_variant,Likely benign,193696,,1,628756,0.0000015904420792803568,0,0,,,6.97,,0.00,0.00,-1.48,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091674-C-G,17,43091674,rs142383077,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1286Thr,p.Ser1286Thr,c.3857G>C,missense_variant,Conflicting interpretations of pathogenicity,187761,,2,1614110,0.0000012390729256370383,0,0,,,20.1,0.554,0.00,0.0300,0.347,0.0100,0.115,1,74948,0,0,0,60014,0,0,0,29606,0,0,0,44898,0,0,0,64044,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,0,91084,0,0,1,62488,0,0 -17-43091674-C-A,17,43091674,rs142383077,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286Ile,p.Ser1286Ile,c.3857G>T,missense_variant,Conflicting interpretations of pathogenicity,925337,,6,1461872,0.0000041043265073823155,0,0,nfe,0.00000194,22.2,0.531,0.00,0.0100,0.347,0.00,0.360,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,6,1112000,0,0,,,,,0,86258,0,0,0,60394,0,0 -17-43091678-G-A,17,43091678,rs2154281078,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1285Phe,p.Leu1285Phe,c.3853C>T,missense_variant,Conflicting interpretations of pathogenicity,1056581,,1,833106,0.0000012003274493281767,0,0,,,12.3,0.423,0.0200,0.0300,0.407,0.190,0.313,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091679-G-T,17,43091679,rs776070899,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1284Gln,p.His1284Gln,c.3852C>A,missense_variant,Conflicting interpretations of pathogenicity,864100,,1,628762,0.0000015904269023891392,0,0,,,10.8,0.534,0.00,0.00,1.22,0.400,0.191,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,1,33098,0,0 -17-43091683-T-C,17,43091683,rs80357047,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1283Arg,p.His1283Arg,c.3848A>G,missense_variant,Conflicting interpretations of pathogenicity,55028,,23,1614126,0.000014249197398468274,0,0,nfe,0.00001107,14.1,0.565,0.0100,0.0100,0.823,0.180,0.00,1,74958,0,0,2,60006,0,0,0,29606,0,0,0,44900,0,0,0,64038,0,0,0,6084,0,0,20,1180040,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 -17-43091686-T-TCG,17,43091686,,T,TCG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1282AlafsTer26,p.Glu1282AlafsTer26,c.3844_3845insCG,frameshift_variant,,,lof_flag,2,1461872,0.000001368108835794105,0,0,nfe,2.999999999999999e-7,28.4,,0.0200,0.0700,4.62,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091686-T-A,17,43091686,rs80357217,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1282Val,p.Glu1282Val,c.3845A>T,missense_variant,Conflicting interpretations of pathogenicity,55027,,20,1461872,0.00001368108835794105,0,0,nfe,0.00000931,25.6,0.540,0.0200,0.130,4.62,0.00,0.230,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,17,1112002,0,0,,,,,0,86256,0,0,3,60396,0,0 -17-43091688-C-T,17,43091688,rs1597860926,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1281Gln,p.Gln1281Gln,c.3843G>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.29,,0.0100,0.0100,0.799,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091689-T-G,17,43091689,rs80357483,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1281Pro,p.Gln1281Pro,c.3842A>C,missense_variant,Conflicting interpretations of pathogenicity,55025,,5,152230,0.00003284503711489194,0,0,afr,0.000034719999999999986,17.9,0.533,0.00,0.0100,3.14,0.250,0.731,3,41462,0,0,0,15292,0,0,0,3468,0,0,0,5204,0,0,0,10630,0,0,0,316,0,0,2,68024,0,0,0,910,0,0,0,4830,0,0,0,2094,0,0 -17-43091689-TGAG-T,17,43091689,,TGAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1280_Gln1281delinsTer,p.Ser1280_Gln1281delinsTer,c.3839_3841del,stop_gained,,,lof_flag,2,1460354,0.0000013695309493451588,0,0,nfe,2.999999999999999e-7,32.0,,0.0300,0.220,3.14,,,0,33450,0,0,0,44720,0,0,0,26124,0,0,0,39686,0,0,0,53416,0,0,0,5768,0,0,2,1110622,0,0,,,,,0,86222,0,0,0,60346,0,0 -17-43091695-G-A,17,43091695,rs1555586967,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1279Val,p.Ala1279Val,c.3836C>T,missense_variant,Conflicting interpretations of pathogenicity,462623,,2,1461872,0.000001368108835794105,0,0,,,11.4,0.552,0.0300,0.0600,0.686,0.0900,0.00500,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,1,5768,0,0,1,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091696-C-A,17,43091696,rs80357036,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1279Ser,p.Ala1279Ser,c.3835G>T,missense_variant,Conflicting interpretations of pathogenicity,421098,,1,1461872,6.840544178970525e-7,0,0,,,13.5,0.503,0.00,0.0100,0.783,0.0200,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091696-C-T,17,43091696,rs80357036,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1279Thr,p.Ala1279Thr,c.3835G>A,missense_variant,Conflicting interpretations of pathogenicity,55020,,11,1614192,0.000006814554898054259,0,0,nfe,0.00000429,9.54,0.549,0.00,0.0100,0.783,0.0500,0.0100,0,75052,0,0,0,60020,0,0,0,29606,0,0,0,44886,0,0,0,64032,0,0,0,6062,0,0,10,1180026,0,0,0,912,0,0,0,91084,0,0,1,62512,0,0 -17-43091697-C-T,17,43091697,rs876660942,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1278Lys,p.Lys1278Lys,c.3834G>A,synonymous_variant,Likely benign,234227,,2,628764,0.0000031808436869795343,0,0,,,4.13,,0.0100,0.0100,1.99,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091697-C-G,17,43091697,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1278Asn,p.Lys1278Asn,c.3834G>C,missense_variant,Uncertain significance,2672697,,1,628764,0.0000015904218434897671,0,0,,,16.9,0.427,0.00,0.0100,1.99,0.0300,0.198,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091703-CAAT-C,17,43091703,,CAAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275_Leu1276delinsMet,p.Ile1275_Leu1276delinsMet,c.3825_3827del,inframe_deletion,,,,3,1461866,0.000002052171676473767,0,0,nfe,7.200000000000001e-7,1.52,,0.00,0.0300,-0.925,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,3,1112002,0,0,,,,,0,86250,0,0,0,60396,0,0 -17-43091705-A-G,17,43091705,rs876659178,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1276Leu,p.Leu1276Leu,c.3826T>C,synonymous_variant,Likely benign,231468,,2,628766,0.0000031808335692451565,0,0,,,0.540,,0.00,-0.0100,-0.759,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091707-A-T,17,43091707,rs2053516476,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275Lys,p.Ile1275Lys,c.3824T>A,missense_variant,Conflicting interpretations of pathogenicity,857696,,1,1461878,6.840516103258959e-7,0,0,,,10.7,0.488,0.00,0.00,0.348,0.0300,0.0210,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112002,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43091707-A-G,17,43091707,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275Thr,p.Ile1275Thr,c.3824T>C,missense_variant,,,,1,1461878,6.840516103258959e-7,0,0,,,0.812,0.480,0.00,0.00,0.348,0.710,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091708-T-C,17,43091708,rs80357280,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1275Val,p.Ile1275Val,c.3823A>G,missense_variant,Benign,37549,,128,1614218,0.00007929536159304382,0,0,amr,0.0005457200000000002,0.398,0.382,0.00,0.0300,-0.0170,0.940,0.0100,0,75072,0,0,43,60028,0,0,0,29600,0,0,0,44884,0,0,0,64042,0,0,0,6062,0,0,74,1180020,0,0,0,912,0,0,0,91086,0,0,11,62512,0,0 -17-43091709-T-G,17,43091709,rs372396487,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1274Val,p.Val1274Val,c.3822A>C,synonymous_variant,Likely benign,380248,,29,1614128,0.00001796635706709753,0,0,sas,0.00016266,0.366,,0.00,0.0100,-1.42,,,4,74956,0,0,0,60010,0,0,0,29606,0,0,0,44896,0,0,0,64046,0,0,0,6084,0,0,0,1180038,0,0,0,912,0,0,22,91090,0,0,3,62490,0,0 -17-43091711-C-G,17,43091711,rs2053517601,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1274Leu,p.Val1274Leu,c.3820G>C,missense_variant,Conflicting interpretations of pathogenicity,861349,,1,152208,0.000006569956901082729,0,0,,,7.30,0.616,0.00,0.0100,2.32,,,0,41458,0,0,0,15274,0,0,0,3468,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 -17-43091712-C-G,17,43091712,rs1293826790,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273His,p.Gln1273His,c.3819G>C,missense_variant,Conflicting interpretations of pathogenicity,853265,,1,628768,0.0000015904117257875718,0,0,,,9.32,0.541,0.00,0.0100,1.69,0.0300,0.626,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091713-T-A,17,43091713,rs431825400,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273Leu,p.Gln1273Leu,c.3818A>T,missense_variant,Conflicting interpretations of pathogenicity,842937,,1,628768,0.0000015904117257875718,0,0,,,20.2,0.535,0.00,0.0100,2.02,0.00,0.0110,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091714-G-A,17,43091714,rs80357208,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273Ter,p.Gln1273Ter,c.3817C>T,stop_gained,Pathogenic,55015,lof_flag,1,833106,0.0000012003274493281767,0,0,,,35.0,,0.00,0.150,5.89,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091715-G-T,17,43091715,rs786201893,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1272Lys,p.Asn1272Lys,c.3816C>A,missense_variant,Conflicting interpretations of pathogenicity,185053,,2,628764,0.0000031808436869795343,0,0,nfe,9.5e-7,11.8,0.497,0.00,0.0300,-0.451,0.210,0.0530,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091716-T-C,17,43091716,rs772703445,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1272Ser,p.Asn1272Ser,c.3815A>G,missense_variant,Conflicting interpretations of pathogenicity,232792,,5,628768,0.00000795205862893786,0,0,amr,0.00004437999999999998,5.07,0.285,0.00,0.0300,-0.216,0.330,0.0100,0,17694,0,0,5,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091721-G-T,17,43091721,rs886040166,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Ter,p.Cys1270Ter,c.3810C>A,stop_gained,Pathogenic,266406,lof_flag,1,1461876,6.840525461803874e-7,0,0,,,29.9,,0.00,0.110,-0.112,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091721-G-C,17,43091721,rs886040166,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Trp,p.Cys1270Trp,c.3810C>G,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,17.2,0.529,0.00,0.0100,-0.112,0.0700,0.832,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091722-C-T,17,43091722,rs1207787135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Tyr,p.Cys1270Tyr,c.3809G>A,missense_variant,Likely benign,433708,,1,628768,0.0000015904117257875718,0,0,,,0.754,0.520,0.00,0.0100,-0.147,0.410,0.403,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091723-A-G,17,43091723,rs2154285914,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Arg,p.Cys1270Arg,c.3808T>C,missense_variant,Conflicting interpretations of pathogenicity,1171706,,1,628766,0.0000015904167846225783,0,0,,,8.70,0.637,0.00,0.0100,-2.25,0.180,0.246,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,1,53140,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091724-G-C,17,43091724,rs786202569,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1269Glu,p.Asp1269Glu,c.3807C>G,missense_variant,Conflicting interpretations of pathogenicity,186925,,1,628762,0.0000015904269023891392,0,0,,,15.4,0.544,0.00,0.0400,0.231,0.0400,0.164,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091727-A-G,17,43091727,rs140588714,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1268Asn,p.Asn1268Asn,c.3804T>C,synonymous_variant,Likely benign,136546,,73,1614218,0.0000452231359085328,0,0,afr,0.0005893700000000001,1.05,,0.0500,0.0600,-1.53,,,56,75050,0,0,2,60034,0,0,0,29606,0,0,0,44884,0,0,0,64038,0,0,0,6062,0,0,1,1180036,0,0,0,912,0,0,2,91084,0,0,12,62512,0,0 -17-43091731-A-G,17,43091731,rs587782190,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1267Ser,p.Leu1267Ser,c.3800T>C,missense_variant,Conflicting interpretations of pathogenicity,142031,,9,780996,0.000011523746600494754,0,0,nfe,0.00001112,7.54,0.513,0.0300,0.0500,0.348,0.270,0.0240,0,59154,0,0,0,59018,0,0,0,24452,0,0,0,41270,0,0,0,63772,0,0,0,4464,0,0,9,418138,0,0,0,912,0,0,0,74624,0,0,0,35192,0,0 -17-43091733-G-T,17,43091733,rs200648498,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1266Arg,p.Ser1266Arg,c.3798C>A,missense_variant,Conflicting interpretations of pathogenicity,230616,,1,152208,0.000006569956901082729,0,0,,,8.22,0.806,0.00,0.00,0.0580,,,0,41454,0,0,1,15280,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43091733-G-A,17,43091733,rs200648498,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1266Ser,p.Ser1266Ser,c.3798C>T,synonymous_variant,Likely benign,427316,,1,152326,0.000006564867455326077,0,0,,,0.468,,0.00,0.0100,0.0580,,,0,41576,0,0,0,15300,0,0,0,3472,0,0,1,5186,0,0,0,10614,0,0,0,294,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2114,0,0 -17-43091733-GCTA-G,17,43091733,rs1439734513,GCTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1266del,p.Ser1266del,c.3795_3797del,inframe_deletion,,,,1,628772,0.0000015904016082141062,0,0,,,5.04,,0.0500,0.0700,0.0580,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091734-C-G,17,43091734,rs80357160,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1266Thr,p.Ser1266Thr,c.3797G>C,missense_variant,Benign,55009,,6,1614066,0.000003717320109586597,0,0,nfe,0.0000012399999999999998,0.860,0.550,0.0500,0.0700,0.594,0.0700,0.0140,0,74926,0,0,0,59998,0,0,0,29606,0,0,0,44898,0,0,0,64038,0,0,0,6084,0,0,5,1180034,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 -17-43091736-ATTC-A,17,43091736,rs2053521870,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264del,p.Lys1264del,c.3792_3794del,inframe_deletion,Uncertain significance,1039866,,2,833088,0.0000024007067680725206,0,0,nfe,4.4e-7,3.06,,0.00,0.0200,-0.505,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761888,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43091737-T-C,17,43091737,rs2154286843,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1265Ser,p.Asn1265Ser,c.3794A>G,missense_variant,Conflicting interpretations of pathogenicity,1510278,,1,628770,0.000001590406666984748,0,0,,,0.0120,0.408,0.00,0.0200,-1.01,0.430,0.00300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091739-C-T,17,43091739,rs894781955,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264Lys,p.Lys1264Lys,c.3792G>A,synonymous_variant,Likely benign,632686,,1,833106,0.0000012003274493281767,0,0,,,1.44,,0.00,0.0500,0.881,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091740-T-G,17,43091740,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264Thr,p.Lys1264Thr,c.3791A>C,missense_variant,,,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,20.8,0.519,0.00,0.0200,0.194,0.0100,0.0530,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091743-AATG-A,17,43091743,rs1555587043,AATG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1262del,p.Ser1262del,c.3785_3787del,inframe_deletion,Uncertain significance,481434,,1,628770,0.000001590406666984748,0,0,,,9.00,,0.00,0.0100,0.320,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091744-A-G,17,43091744,rs1057523961,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1263Leu,p.Leu1263Leu,c.3787T>C,synonymous_variant,Likely benign,391078,,1,628766,0.0000015904167846225783,0,0,,,0.0690,,0.0100,0.0200,-2.93,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,1,33098,0,0 -17-43091746-G-A,17,43091746,rs80357269,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1262Leu,p.Ser1262Leu,c.3785C>T,missense_variant,Conflicting interpretations of pathogenicity,55007,,5,628754,0.00000795223569154232,0,0,eas,0.00000919,15.5,0.466,0.00,0.0300,2.38,0.0800,0.0970,0,17694,0,0,2,43740,0,0,0,20982,0,0,2,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69782,0,0,0,33098,0,0 -17-43091746-G-GATA,17,43091746,rs1064793058,G,GATA,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1261dup,p.Leu1261dup,c.3782_3784dup,inframe_insertion,,,,1,152214,0.0000065696979252893955,0,0,,,9.63,,0.00,0.0200,2.38,,,1,41454,0,0,0,15278,0,0,0,3472,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43091747-A-G,17,43091747,rs1011096937,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1262Pro,p.Ser1262Pro,c.3784T>C,missense_variant,Conflicting interpretations of pathogenicity,481459,,3,781014,0.000003841160337714817,0,0,nfe,0.0000019100000000000003,11.9,0.497,0.0200,0.0400,0.298,0.240,0.0520,0,59168,0,0,0,59016,0,0,0,24454,0,0,0,41268,0,0,0,63766,0,0,0,4464,0,0,3,418142,0,0,0,912,0,0,0,74632,0,0,0,35192,0,0 -17-43091748-T-A,17,43091748,rs80356831,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1261Phe,p.Leu1261Phe,c.3783A>T,missense_variant,Likely benign,41819,,1,1461864,6.840581613611115e-7,0,0,,,6.91,0.463,0.00,0.0100,-1.01,0.320,0.0670,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1111992,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091748-T-C,17,43091748,rs80356831,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1261Leu,p.Leu1261Leu,c.3783A>G,synonymous_variant,Likely benign,55005,,26,1614126,0.000016107788363485875,0,0,afr,0.00020967999999999998,0.470,,0.00,0.0100,-1.01,,,23,74956,0,0,2,60006,0,0,0,29606,0,0,0,44892,0,0,0,64048,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91088,0,0,1,62490,0,0 -17-43091751-TA-T,17,43091751,rs80357798,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1260TyrfsTer4,p.Leu1260TyrfsTer4,c.3779del,frameshift_variant,Pathogenic,55002,lof_flag,4,833104,0.000004801321323628263,0,0,nfe,0.0000012299999999999999,20.9,,0.00,0.0800,-1.76,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091753-A-G,17,43091753,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1260Leu,p.Leu1260Leu,c.3778T>C,synonymous_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.799,,0.0200,0.0300,0.311,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091755-T-G,17,43091755,rs483353090,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1259Thr,p.Asn1259Thr,c.3776A>C,missense_variant,Conflicting interpretations of pathogenicity,125651,,29,1614202,0.00001796553343385772,0,0,sas,0.00022775999999999997,0.660,0.609,0.00,0.00,-0.305,0.360,0.00600,0,75052,0,0,0,60016,0,0,0,29606,0,0,0,44880,0,0,0,64048,0,0,0,6062,0,0,0,1180034,0,0,0,912,0,0,29,91080,0,0,0,62512,0,0 -17-43091756-TCTC-T,17,43091756,rs1057517536,TCTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1258del,p.Glu1258del,c.3772_3774del,inframe_deletion,Uncertain significance,371791,,2,1461884,0.0000013680976055555708,0,0,nfe,2.999999999999999e-7,8.47,,0.00,0.0300,0.682,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091757-C-T,17,43091757,rs431825399,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1258Glu,p.Glu1258Glu,c.3774G>A,synonymous_variant,Likely benign,225730,,8,1614070,0.000004956414529729194,0,0,nfe,0.00000183,2.63,,0.00,0.0100,3.56,,,1,74914,0,0,0,60006,0,0,0,29606,0,0,0,44894,0,0,0,64046,0,0,0,6084,0,0,6,1180040,0,0,0,912,0,0,0,91080,0,0,1,62488,0,0 -17-43091759-CCT-C,17,43091759,rs80357579,CCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1257GlyfsTer9,p.Glu1257GlyfsTer9,c.3770_3771del,frameshift_variant,Pathogenic,37546,lof_flag,7,1614042,0.00000433693794833096,0,0,nfe,7.899999999999998e-7,17.7,,0.00,0.0700,5.64,,,1,74918,0,0,0,59996,0,0,0,29604,0,0,1,44894,0,0,0,64044,0,0,0,6084,0,0,4,1180018,0,0,0,912,0,0,1,91082,0,0,0,62490,0,0 -17-43091759-C-T,17,43091759,rs397509105,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1258Lys,p.Glu1258Lys,c.3772G>A,missense_variant,Conflicting interpretations of pathogenicity,572647,,1,152176,0.00000657133845021554,0,0,,,14.6,0.479,0.00,0.0200,5.64,,,1,41438,0,0,0,15272,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43091760-C-T,17,43091760,rs1597861430,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1257Glu,p.Glu1257Glu,c.3771G>A,synonymous_variant,Likely benign,798841,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,0.550,,0.0100,0.0100,0.726,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091762-C-T,17,43091762,rs1567790183,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1257Lys,p.Glu1257Lys,c.3769G>A,missense_variant,Conflicting interpretations of pathogenicity,580205,,2,1461878,0.0000013681032206517918,0,0,nfe,2.999999999999999e-7,5.66,0.536,0.00,0.0200,2.94,0.270,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091762-CTG-C,17,43091762,rs730881440,CTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256ArgfsTer10,p.Thr1256ArgfsTer10,c.3767_3768del,frameshift_variant,Pathogenic,182074,lof_flag,3,1461878,0.0000020521548309776876,0,0,nfe,7.200000000000001e-7,25.4,,0.00,0.0700,2.94,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091763-T-C,17,43091763,rs786202803,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Thr,p.Thr1256Thr,c.3768A>G,synonymous_variant,Likely benign,186246,,10,1461866,0.000006840572254912557,0,0,nfe,0.00000381,2.50,,0.0100,0.0500,0.116,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,9,1111988,0,0,,,,,0,86258,0,0,1,60396,0,0 -17-43091764-G-T,17,43091764,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Lys,p.Thr1256Lys,c.3767C>A,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,23.0,0.428,0.00,0.0100,3.51,0.0100,0.397,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091764-G-A,17,43091764,rs2154289053,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Ile,p.Thr1256Ile,c.3767C>T,missense_variant,Conflicting interpretations of pathogenicity,1519305,,1,833088,0.0000012003533840362603,0,0,,,22.9,0.421,0.00,0.0300,3.51,0.00,0.443,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091765-T-C,17,43091765,rs2053527896,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Ala,p.Thr1256Ala,c.3766A>G,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,8.85,0.530,0.00,0.0400,0.604,0.500,0.0210,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091766-G-C,17,43091766,rs2154289245,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1255Lys,p.Asn1255Lys,c.3765C>G,missense_variant,,,,2,832990,0.000002400989207553512,0,0,nfe,4.4e-7,2.85,0.265,0.0100,0.0700,1.16,1.00,0.00,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,2,761800,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43091766-G-GT,17,43091766,rs80357848,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn1255LysfsTer12,p.Asn1255LysfsTer12,c.3764dup,frameshift_variant,Pathogenic,37545,lof_flag,2,152202,0.00001314043179458877,0,0,afr,0.000008,23.6,,0.00,0.0500,1.16,,,2,41452,0,0,0,15282,0,0,0,3472,0,0,0,5194,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43091769-C-A,17,43091769,rs2053529032,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Asn,p.Lys1254Asn,c.3762G>T,missense_variant,Conflicting interpretations of pathogenicity,1519354,,3,1461790,0.0000020522783710382476,0,0,nfe,7.200000000000001e-7,0.533,0.322,0.00,0.0300,0.0800,0.310,0.0370,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,3,1111938,0,0,,,,,0,86244,0,0,0,60392,0,0 -17-43091771-T-C,17,43091771,rs80357362,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Glu,p.Lys1254Glu,c.3760A>G,missense_variant,Conflicting interpretations of pathogenicity,54994,,5,1461790,0.000003420463951730413,0,0,nfe,8.4e-7,7.84,0.431,0.00,0.0200,0.347,0.450,0.0150,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,4,1111924,0,0,,,,,1,86256,0,0,0,60390,0,0 -17-43091771-TAGAC-T,17,43091771,rs80357868,TAGAC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1253ArgfsTer10,p.Ser1253ArgfsTer10,c.3756_3759del,frameshift_variant,Pathogenic,17673,lof_flag,23,1614000,0.000014250309789343247,0,0,nfe,0.00001221,23.6,,0.00,0.0600,0.347,,,0,74930,0,0,0,60002,0,0,0,29606,0,0,0,44896,0,0,0,64040,0,0,0,6084,0,0,22,1179968,0,0,0,910,0,0,0,91080,0,0,1,62484,0,0 -17-43091771-T-TA,17,43091771,rs80357687,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Ter,p.Lys1254Ter,c.3759dup,frameshift_variant,Pathogenic,54992,lof_flag,1,1461790,6.840927903460826e-7,0,0,,,22.2,,0.00,0.0600,0.347,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1111924,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43091773-G-C,17,43091773,rs397509100,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1253Cys,p.Ser1253Cys,c.3758C>G,missense_variant,Conflicting interpretations of pathogenicity,186252,,30,1613886,0.00001858867354943286,0,0,nfe,0.00001646,22.6,0.474,0.00,0.0100,2.91,0.00,0.785,0,74914,0,0,1,59996,0,0,0,29606,0,0,0,44886,0,0,0,64030,0,0,0,6084,0,0,28,1179900,0,0,0,912,0,0,0,91076,0,0,1,62482,0,0 -17-43091775-C-G,17,43091775,rs752122039,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1252Leu,p.Leu1252Leu,c.3756G>C,synonymous_variant,Likely benign,427313,,10,1461824,0.000006840768792960028,0,0,nfe,0.0000031,0.145,,0.00,-0.0100,-2.46,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,8,1111952,0,0,,,,,1,86258,0,0,0,60390,0,0 -17-43091780-A-G,17,43091780,rs757215735,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1251Arg,p.Cys1251Arg,c.3751T>C,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,3.58,0.490,0.0100,0.0500,-0.761,0.380,0.0450,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091781-C-G,17,43091781,rs145903082,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Asp,p.Glu1250Asp,c.3750G>C,missense_variant,Conflicting interpretations of pathogenicity,141786,,5,1614040,0.0000030978166588188643,0,0,afr,0.000025490000000000005,1.57,0.436,0.00,0.0200,-0.607,0.0800,0.115,5,74942,0,0,0,60004,0,0,0,29606,0,0,0,44896,0,0,0,64038,0,0,0,6084,0,0,0,1179998,0,0,0,910,0,0,0,91074,0,0,0,62488,0,0 -17-43091781-C-T,17,43091781,rs145903082,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Glu,p.Glu1250Glu,c.3750G>A,synonymous_variant,Likely benign,232493,,6,1614040,0.0000037173799905826374,0,0,afr,0.00001063,0.473,,0.00,0.0100,-0.607,,,3,74942,0,0,2,60004,0,0,0,29606,0,0,1,44896,0,0,0,64038,0,0,0,6084,0,0,0,1179998,0,0,0,910,0,0,0,91074,0,0,0,62488,0,0 -17-43091783-C-G,17,43091783,rs28897686,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1250Gln,p.Glu1250Gln,c.3748G>C,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,7.68,0.388,0.00,0.0200,0.945,0.270,0.0210,0,33478,0,0,0,44724,0,0,0,26134,0,0,1,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43091783-C-T,17,43091783,rs28897686,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Lys,p.Glu1250Lys,c.3748G>A,missense_variant,Benign,54987,,494,1614032,0.0003060658029084925,0,0,nfe,0.00036528,11.7,0.359,0.00,0.0100,0.945,0.0600,0.0890,4,74942,0,0,2,60002,0,0,0,29606,0,0,0,44890,0,0,11,64036,0,0,0,6084,0,0,466,1180006,0,0,0,912,0,0,1,91066,0,0,10,62488,0,0 -17-43091783-C-A,17,43091783,rs28897686,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1250Ter,p.Glu1250Ter,c.3748G>T,stop_gained,Pathogenic,17672,lof_flag,4,1461836,0.000002736285055231914,0,0,nfe,8.4e-7,33.0,,0.00,0.130,0.945,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,4,1111970,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43091784-G-T,17,43091784,rs587780801,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1249Thr,p.Thr1249Thr,c.3747C>A,synonymous_variant,Benign/Likely benign,682575,,1,1461822,6.840778152196368e-7,0,0,,,0.130,,0.00,0.0100,-0.740,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111960,0,0,,,,,1,86250,0,0,0,60394,0,0 -17-43091784-G-A,17,43091784,rs587780801,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1249Thr,p.Thr1249Thr,c.3747C>T,synonymous_variant,Likely benign,136085,,44,1613960,0.000027262137847282462,0,0,nfe,0.00002313,0.169,,0.00,0.0200,-0.740,,,0,74904,0,0,0,59996,0,0,0,29606,0,0,3,44890,0,0,0,64018,0,0,1,6084,0,0,37,1179998,0,0,0,910,0,0,3,91070,0,0,0,62484,0,0 -17-43091785-G-A,17,43091785,rs80357099,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1249Ile,p.Thr1249Ile,c.3746C>T,missense_variant,,,,1,1461858,6.840609689860438e-7,0,0,,,4.06,0.372,0.00,0.0100,0.897,0.150,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091785-G-C,17,43091785,rs80357099,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1249Ser,p.Thr1249Ser,c.3746C>G,missense_variant,Conflicting interpretations of pathogenicity,54986,,7,1614156,0.000004336631651463675,0,0,afr,0.000025460000000000004,3.20,0.410,0.00,0.0300,0.897,0.240,0.00300,5,75046,0,0,1,60018,0,0,0,29606,0,0,0,44880,0,0,0,64030,0,0,0,6062,0,0,0,1180026,0,0,0,910,0,0,0,91076,0,0,1,62502,0,0 -17-43091792-C-T,17,43091792,rs80357191,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1247Ile,p.Val1247Ile,c.3739G>A,missense_variant,Benign,54985,,65,1614168,0.00004026842311333145,1,0,eas,0.0004426700000000003,0.0940,0.423,0.00,0.0100,-0.129,0.580,0.0100,11,75044,0,0,1,60022,0,0,0,29606,0,0,28,44884,0,0,0,64028,0,0,2,6062,0,0,12,1180024,0,0,0,912,0,0,1,91078,0,0,10,62508,1,0 -17-43091793-G-A,17,43091793,rs778655093,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1246Thr,p.Thr1246Thr,c.3738C>T,synonymous_variant,Likely benign,383578,,27,1613982,0.00001672881110198255,0,0,nfe,0.00001376,0.970,,0.0100,0.0400,-0.345,,,1,74918,0,0,1,59980,0,0,0,29606,0,0,0,44894,0,0,0,64018,0,0,0,6084,0,0,24,1180012,0,0,0,912,0,0,1,91072,0,0,0,62486,0,0 -17-43091794-G-A,17,43091794,rs878854949,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ile,p.Thr1246Ile,c.3737C>T,missense_variant,Conflicting interpretations of pathogenicity,650348,,5,1461860,0.000003420300165542528,0,0,sas,0.000021940000000000003,12.4,0.350,0.00,0.0100,2.12,0.00,0.230,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111990,0,0,,,,,5,86256,0,0,0,60394,0,0 -17-43091795-T-C,17,43091795,rs587776488,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ala,p.Thr1246Ala,c.3736A>G,missense_variant,Conflicting interpretations of pathogenicity,156192,,1,628772,0.0000015904016082141062,0,0,,,0.790,0.124,0.00,0.0200,-0.358,0.480,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091795-T-A,17,43091795,rs587776488,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ser,p.Thr1246Ser,c.3736A>T,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.523,0.258,0.0100,0.0100,-0.358,0.440,0.0570,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 -17-43091796-G-A,17,43091796,rs1567790391,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1245Ser,p.Ser1245Ser,c.3735C>T,synonymous_variant,Likely benign,632685,,1,833092,0.0000012003476206709464,0,0,,,1.30,,0.0100,0.0200,-0.665,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43091797-C-T,17,43091797,rs1060502348,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1245Asn,p.Ser1245Asn,c.3734G>A,missense_variant,Conflicting interpretations of pathogenicity,409344,,1,833100,0.0000012003360941063497,0,0,,,0.807,0.213,0.00,0.0200,0.300,0.540,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43091799-A-C,17,43091799,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1244Gln,p.His1244Gln,c.3732T>G,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.0510,0.394,0.00,0.0200,-0.789,0.650,0.00600,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091800-T-A,17,43091800,rs2154292030,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1244Leu,p.His1244Leu,c.3731A>T,missense_variant,Conflicting interpretations of pathogenicity,2128271,,1,833106,0.0000012003274493281767,0,0,,,2.39,0.406,0.0100,0.0200,-0.870,0.500,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091801-G-A,17,43091801,rs2053536450,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His1244Tyr,p.His1244Tyr,c.3730C>T,missense_variant,,,,1,152302,0.000006565901957951964,0,0,,,3.57,0.396,0.0200,0.0400,0.256,,,0,41578,0,0,0,15302,0,0,0,3470,0,0,0,5186,0,0,0,10608,0,0,0,294,0,0,1,68030,0,0,0,912,0,0,0,4810,0,0,0,2112,0,0 -17-43091802-C-T,17,43091802,rs2154292175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1243Arg,p.Arg1243Arg,c.3729G>A,synonymous_variant,Likely benign,1734353,,1,628770,0.000001590406666984748,0,0,,,0.798,,0.0100,0.0300,-0.509,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091805-A-G,17,43091805,rs1060504567,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Thr,p.Thr1242Thr,c.3726T>C,synonymous_variant,Likely benign,415570,,3,833102,0.0000036009996374993697,0,0,nfe,0.00000105,2.95,,0.00,0.0200,0.891,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091806-G-A,17,43091806,rs2154292430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Ile,p.Thr1242Ile,c.3725C>T,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,16.8,0.362,0.0100,0.0400,2.23,0.0200,0.113,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091807-T-C,17,43091807,rs80357037,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Ala,p.Thr1242Ala,c.3724A>G,missense_variant,Benign,54982,,12,1461876,0.000008208630554164648,0,0,nfe,0.00000455,14.4,0.394,0.00,0.0100,0.0960,0.0200,0.0570,1,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,10,1112004,0,0,,,,,0,86258,0,0,1,60394,0,0 -17-43091808-A-G,17,43091808,rs772759939,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Ser,p.Ser1241Ser,c.3723T>C,synonymous_variant,Likely benign,427290,,2,1461880,0.0000013681013489479301,0,0,nfe,2.999999999999999e-7,4.10,,0.00,0.0100,-0.295,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091809-G-T,17,43091809,rs80357143,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Tyr,p.Ser1241Tyr,c.3722C>A,missense_variant,Conflicting interpretations of pathogenicity,54979,,5,1461868,0.000003420281448119803,0,0,nfe,0.0000013199999999999999,21.9,0.404,0.0200,0.0400,2.09,0.0100,0.305,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,5,1111994,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091809-G-C,17,43091809,rs80357143,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Cys,p.Ser1241Cys,c.3722C>G,missense_variant,Likely benign,54980,,1,1461868,6.840562896239606e-7,0,0,,,22.3,0.376,0.0100,0.0300,2.09,0.0200,0.0110,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091813-G-A,17,43091813,rs80356903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1240Ter,p.Gln1240Ter,c.3718C>T,stop_gained,Pathogenic,54978,lof_flag,2,1461864,0.000001368116322722223,0,0,nfe,2.999999999999999e-7,36.0,,0.0200,0.0700,3.40,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86242,0,0,0,60396,0,0 -17-43091814-A-T,17,43091814,rs730881453,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1239Ser,p.Ser1239Ser,c.3717T>A,synonymous_variant,Likely benign,182094,,23,1614102,0.000014249409269054868,0,0,amr,0.00008995999999999999,6.81,,0.00,0.0100,1.31,,,0,74940,0,0,10,60008,0,0,0,29606,0,0,0,44898,0,0,3,64040,0,0,1,6084,0,0,6,1180040,0,0,0,912,0,0,0,91088,0,0,3,62486,0,0 -17-43091815-G-A,17,43091815,rs2154292840,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1239Phe,p.Ser1239Phe,c.3716C>T,missense_variant,Conflicting interpretations of pathogenicity,1809546,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,17.0,0.361,0.0200,0.0400,3.20,0.150,0.781,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091816-A-T,17,43091816,rs1213036734,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1239Thr,p.Ser1239Thr,c.3715T>A,missense_variant,,,,1,628774,0.0000015903965494756462,0,0,,,8.69,0.314,0.00,0.00,0.478,0.520,0.0490,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091818-G-C,17,43091818,rs28897688,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1238Arg,p.Pro1238Arg,c.3713C>G,missense_variant,Conflicting interpretations of pathogenicity,54974,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,18.2,0.429,0.00,0.0100,0.257,0.00,0.564,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1111998,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091818-G-A,17,43091818,rs28897688,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1238Leu,p.Pro1238Leu,c.3713C>T,missense_variant,Benign,37543,,258,1614034,0.0001598479338105641,0,0,nfe,0.00004019,14.1,0.361,0.0200,0.0300,0.257,0.0400,0.0300,0,74922,0,0,0,59990,0,0,108,29604,0,0,0,44896,0,0,75,64028,0,0,1,6084,0,0,60,1180024,0,0,0,912,0,0,1,91090,0,0,13,62484,0,0 -17-43091820-T-C,17,43091820,rs80357388,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1237Met,p.Ile1237Met,c.3711A>G,missense_variant,Conflicting interpretations of pathogenicity,54973,,11,1614046,0.000006815171314820024,0,0,nfe,0.00000429,11.6,0.402,0.00,0.0100,-0.238,0.0300,0.00700,0,74930,0,0,0,59984,0,0,1,29606,0,0,0,44894,0,0,0,64026,0,0,0,6084,0,0,10,1180036,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43091821-A-G,17,43091821,rs876660883,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1237Thr,p.Ile1237Thr,c.3710T>C,missense_variant,Conflicting interpretations of pathogenicity,234148,,2,985290,0.0000020298592292624507,0,0,,,0.0290,0.326,0.00,0.0100,-3.31,1.00,0.00,1,57234,0,0,0,16260,0,0,0,8624,0,0,0,8826,0,0,0,10884,0,0,0,1936,0,0,1,829942,0,0,0,912,0,0,0,21284,0,0,0,29388,0,0 -17-43091823-A-C,17,43091823,rs28897687,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1236Lys,p.Asn1236Lys,c.3708T>G,missense_variant,Benign,54970,,641,1614166,0.0003971090953470709,0,0,nfe,0.00044997,1.71,0.371,0.00,0.0300,-1.17,0.410,0.00600,8,75042,0,0,32,60020,0,0,0,29604,0,0,0,44880,0,0,0,64032,0,0,0,6062,0,0,570,1180024,0,0,0,912,0,0,0,91078,0,0,31,62512,0,0 -17-43091823-A-G,17,43091823,rs28897687,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1236Asn,p.Asn1236Asn,c.3708T>C,synonymous_variant,Likely benign,496372,,1,1461878,6.840516103258959e-7,0,0,,,1.02,,0.00,0.0100,-1.17,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112002,0,0,,,,,1,86258,0,0,0,60396,0,0 -17-43091824-T-C,17,43091824,rs863224760,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1236Ser,p.Asn1236Ser,c.3707A>G,missense_variant,Conflicting interpretations of pathogenicity,216665,,5,780966,0.000006402327374047014,0,0,eas,0.00003259,0.0550,0.364,0.00,0.00,-2.30,1.00,0.0380,1,59150,0,0,0,59000,0,0,0,24454,0,0,4,41268,0,0,0,63764,0,0,0,4464,0,0,0,418140,0,0,0,912,0,0,0,74624,0,0,0,35190,0,0 -17-43091826-GTTTAC-G,17,43091826,rs80357609,GTTTAC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1234GlnfsTer8,p.Val1234GlnfsTer8,c.3700_3704del,frameshift_variant,Pathogenic,37542,lof_flag,5,1461882,0.000003420248693122974,0,0,nfe,0.0000013199999999999999,23.9,,0.0100,0.0200,0.719,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 -17-43091829-T-C,17,43091829,rs587780862,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1234Val,p.Val1234Val,c.3702A>G,synonymous_variant,Likely benign,136545,,1,628766,0.0000015904167846225783,0,0,,,4.74,,0.00,0.0200,1.03,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091832-T-C,17,43091832,rs368690455,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1233Lys,p.Lys1233Lys,c.3699A>G,synonymous_variant,Likely benign,183855,,40,1614192,0.000024780199629288215,0,0,amr,0.00045923000000000014,6.66,,0.150,0.190,1.82,,,2,75050,0,0,37,60010,0,0,1,29606,0,0,0,44884,0,0,0,64038,0,0,0,6062,0,0,0,1180038,0,0,0,912,0,0,0,91084,0,0,0,62508,0,0 -17-43091834-T-C,17,43091834,rs774679104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1233Glu,p.Lys1233Glu,c.3697A>G,missense_variant,Conflicting interpretations of pathogenicity,1734003,,1,628770,0.000001590406666984748,0,0,,,22.7,0.414,0.00,0.0400,2.11,0.0300,0.00700,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091840-A-G,17,43091840,rs41293451,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1231Leu,p.Phe1231Leu,c.3691T>C,missense_variant,Conflicting interpretations of pathogenicity,37541,,40,1614196,0.00002478013822361101,0,0,afr,0.00035600000000000014,25.2,0.642,0.0100,0.0300,2.55,0.00,0.138,36,75058,0,0,0,60024,0,0,2,29604,0,0,1,44886,0,0,0,64040,0,0,0,6062,0,0,1,1180032,0,0,0,912,0,0,0,91070,0,0,0,62508,0,0 -17-43091841-T-C,17,43091841,rs940052169,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1230Leu,p.Leu1230Leu,c.3690A>G,synonymous_variant,Likely benign,824075,,1,833106,0.0000012003274493281767,0,0,,,5.78,,0.00,0.0100,-0.617,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091843-A-C,17,43091843,rs786201581,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1230Val,p.Leu1230Val,c.3688T>G,missense_variant,Conflicting interpretations of pathogenicity,890889,,1,628764,0.0000015904218434897671,0,0,,,1.55,0.548,0.0100,0.0200,-5.54,0.0100,0.162,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 -17-43091845-A-G,17,43091845,rs2053543910,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1229Ser,p.Leu1229Ser,c.3686T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,25.6,0.579,0.0600,0.0800,6.33,0.00,0.946,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43091846-A-G,17,43091846,rs767958299,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1229Leu,p.Leu1229Leu,c.3685T>C,synonymous_variant,Likely benign,240795,,3,1461874,0.000002052160446112319,0,0,sas,0.00000385,9.74,,0.0600,0.0600,2.33,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112000,0,0,,,,,2,86258,0,0,0,60396,0,0 -17-43091847-G-A,17,43091847,rs786201623,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1228His,p.His1228His,c.3684C>T,synonymous_variant,Benign,184693,,20,1614066,0.000012391067031955323,0,0,afr,0.00001063,5.03,,0.00,0.00,0.311,,,3,74924,0,0,2,60000,0,0,0,29604,0,0,0,44898,0,0,0,64030,0,0,0,6084,0,0,15,1180040,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43091850-T-A,17,43091850,rs730881488,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1227His,p.Gln1227His,c.3681A>T,missense_variant,Conflicting interpretations of pathogenicity,182154,,1,833110,0.0000012003216862119048,0,0,,,22.6,0.594,0.0100,0.0100,-1.58,0.00,0.0410,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091851-T-C,17,43091851,rs1295353818,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1227Arg,p.Gln1227Arg,c.3680A>G,missense_variant,,,,1,152204,0.000006570129562954982,0,0,,,25.0,0.606,0.0400,0.0800,4.76,,,0,41450,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10624,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 -17-43091852-G-T,17,43091852,rs886040159,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1227Lys,p.Gln1227Lys,c.3679C>A,missense_variant,,,,1,152132,0.00000657323902926406,0,0,,,25.1,0.568,0.00,0.0100,8.80,,,0,41432,0,0,0,15256,0,0,0,3470,0,0,1,5194,0,0,0,10602,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43091856-G-T,17,43091856,rs879254023,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1225Ter,p.Cys1225Ter,c.3675C>A,stop_gained,Pathogenic,245968,lof_flag,1,152188,0.000006570820301206403,0,0,,,35.0,,0.00,0.0400,1.57,,,0,41450,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43091856-G-A,17,43091856,rs879254023,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225Cys,p.Cys1225Cys,c.3675C>T,synonymous_variant,Likely benign,1733827,,1,628760,0.0000015904319613206948,0,0,,,8.59,,0.00,0.0100,1.57,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 -17-43091858-A-C,17,43091858,rs1382025345,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225Gly,p.Cys1225Gly,c.3673T>G,missense_variant,Conflicting interpretations of pathogenicity,462621,,1,628762,0.0000015904269023891392,0,0,,,25.4,0.636,0.0400,0.0700,2.17,0.0100,0.196,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,1,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33096,0,0 -17-43091858-A-T,17,43091858,rs1382025345,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1225Ser,p.Cys1225Ser,c.3673T>A,missense_variant,Conflicting interpretations of pathogenicity,1009310,,1,152238,0.0000065686622262510016,0,0,,,21.6,0.426,0.0200,0.0300,2.17,,,0,41468,0,0,0,15280,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 -17-43091859-G-GGGAA,17,43091859,rs80357797,G,GGGAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225SerfsTer10,p.Cys1225SerfsTer10,c.3668_3671dup,frameshift_variant,Pathogenic,54960,lof_flag,1,833108,0.0000012003245677631232,0,0,,,32.0,,0.0300,0.0400,-0.0170,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43091864-G-C,17,43091864,rs1555587309,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1223Val,p.Leu1223Val,c.3667C>G,missense_variant,Conflicting interpretations of pathogenicity,952987,,2,1461866,0.0000013681144509825114,0,0,nfe,2.999999999999999e-7,24.8,0.456,0.00,0.0100,8.80,0.00,0.0490,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,2,1111998,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091866-T-G,17,43091866,rs2154296043,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1222Ala,p.Glu1222Ala,c.3665A>C,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,24.1,0.359,0.00,0.0100,6.36,0.00,0.104,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091867-C-A,17,43091867,rs80357356,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1222Ter,p.Glu1222Ter,c.3664G>T,stop_gained,Pathogenic,54959,lof_flag,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,36.0,,0.00,0.0700,7.06,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091869-T-G,17,43091869,rs273900713,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1221Ala,p.Glu1221Ala,c.3662A>C,missense_variant,Conflicting interpretations of pathogenicity,54958,,8,1614076,0.000004956396105263941,0,0,eas,0.00007255999999999998,26.2,0.488,0.00,0.0200,6.36,0.00,0.628,0,74944,0,0,0,60000,0,0,0,29604,0,0,7,44896,0,0,0,64028,0,0,0,6084,0,0,0,1180046,0,0,0,912,0,0,0,91076,0,0,1,62486,0,0 -17-43091870-C-A,17,43091870,rs80357310,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1221Ter,p.Glu1221Ter,c.3661G>T,stop_gained,Pathogenic,54957,lof_flag,1,1461864,6.840581613611115e-7,0,0,,,37.0,,0.00,0.0700,8.90,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,1,39698,0,0,0,53418,0,0,0,5766,0,0,0,1112002,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43091871-A-G,17,43091871,rs1365746397,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1220Asp,p.Asp1220Asp,c.3660T>C,synonymous_variant,Likely benign,926212,,2,628762,0.0000031808538047782785,0,0,,,7.04,,0.0100,0.0100,-0.141,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43091872-T-C,17,43091872,rs766572561,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1220Gly,p.Asp1220Gly,c.3659A>G,missense_variant,,,,6,1461870,0.000004104332122555357,0,0,sas,0.00002995,24.0,0.468,0.00,0.0300,3.72,0.0100,0.00600,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112002,0,0,,,,,6,86256,0,0,0,60394,0,0 -17-43091872-T-A,17,43091872,rs766572561,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1220Val,p.Asp1220Val,c.3659A>T,missense_variant,Conflicting interpretations of pathogenicity,232408,,21,1614078,0.00001301052365499065,0,0,nfe,0.0000035900000000000004,26.3,0.510,0.00,0.0200,3.72,0.00,0.368,0,74932,0,0,0,59998,0,0,0,29604,0,0,0,44898,0,0,2,64032,0,0,0,6084,0,0,9,1180050,0,0,0,912,0,0,0,91082,0,0,10,62486,0,0 -17-43091874-C-A,17,43091874,rs80356876,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1219Asp,p.Glu1219Asp,c.3657G>T,missense_variant,Benign,2035518,,1,1461874,6.840534820374396e-7,0,0,,,23.0,0.684,0.00,0.0500,2.89,0.00,0.0110,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43091874-C-G,17,43091874,rs80356876,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1219Asp,p.Glu1219Asp,c.3657G>C,missense_variant,Benign,37537,,50,1614024,0.000030978473678210486,0,0,nfe,0.0000315,23.0,0.678,0.0300,0.0900,2.89,0.00,0.0110,0,74908,0,0,0,59992,0,0,0,29604,0,0,0,44898,0,0,0,64022,0,0,0,6084,0,0,48,1180042,0,0,0,912,0,0,0,91076,0,0,2,62486,0,0 -17-43091876-C-T,17,43091876,rs80356921,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1219Lys,p.Glu1219Lys,c.3655G>A,missense_variant,Conflicting interpretations of pathogenicity,54956,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,26.1,0.627,0.0200,0.0300,6.95,0.00,0.417,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091879-T-C,17,43091879,rs80356894,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1218Gly,p.Ser1218Gly,c.3652A>G,missense_variant,Conflicting interpretations of pathogenicity,37536,,4,780970,0.000005121835665902659,0,0,,,22.7,0.373,0.150,0.130,2.83,0.0200,0.00900,1,59142,0,0,2,59016,0,0,0,24452,0,0,0,41268,0,0,0,63766,0,0,0,4464,0,0,0,418132,0,0,0,912,0,0,0,74628,0,0,1,35190,0,0 -17-43091881-G-C,17,43091881,rs398122676,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1217Cys,p.Ser1217Cys,c.3650C>G,missense_variant,Conflicting interpretations of pathogenicity,91611,,4,1461872,0.00000273621767158821,0,0,eas,0.00002004,17.5,0.458,0.00,0.0100,2.07,0.0700,0.0590,0,33480,0,0,0,44724,0,0,0,26132,0,0,3,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,1,86256,0,0,0,60396,0,0 -17-43091882-A-AT,17,43091882,rs80357902,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1217IlefsTer2,p.Ser1217IlefsTer2,c.3648dup,frameshift_variant,Pathogenic,37535,lof_flag,1,1461870,6.840553537592262e-7,0,0,,,24.8,,0.00,0.0700,0.833,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091882-ATAAGT-A,17,43091882,rs1060505051,ATAAGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215IlefsTer2,p.Asn1215IlefsTer2,c.3644_3648del,frameshift_variant,Pathogenic,417831,lof_flag,1,1461870,6.840553537592262e-7,0,0,,,23.0,,0.0200,0.0500,0.833,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43091882-A-G,17,43091882,rs273900712,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1217Pro,p.Ser1217Pro,c.3649T>C,missense_variant,Conflicting interpretations of pathogenicity,54953,,69,1614044,0.000042749763946955595,0,0,sas,0.00015373999999999997,21.7,0.450,0.0100,0.0100,0.833,0.0300,0.0220,1,74920,0,0,2,59996,0,0,0,29604,0,0,4,44894,0,0,30,64040,0,0,0,6084,0,0,8,1180022,0,0,0,912,0,0,21,91084,0,0,3,62488,0,0 -17-43091884-A-C,17,43091884,rs397509091,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1216Ter,p.Leu1216Ter,c.3647T>G,stop_gained,Pathogenic,54951,lof_flag,1,628760,0.0000015904319613206948,0,0,,,33.0,,0.0100,0.0400,-1.29,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091886-G-C,17,43091886,rs758329415,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215Lys,p.Asn1215Lys,c.3645C>G,missense_variant,Conflicting interpretations of pathogenicity,1026607,,1,628756,0.0000015904420792803568,0,0,,,14.8,0.293,0.00,0.0200,-0.0360,0.0100,0.0340,0,17694,0,0,1,43736,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43091887-T-C,17,43091887,rs786203310,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215Ser,p.Asn1215Ser,c.3644A>G,missense_variant,Conflicting interpretations of pathogenicity,186902,,2,1461858,0.0000013681219379720876,0,0,,,8.15,0.230,0.00,0.0100,-0.553,0.380,0.00100,0,33476,0,0,0,44720,0,0,0,26132,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111998,0,0,,,,,1,86254,0,0,0,60396,0,0 -17-43091889-C-A,17,43091889,rs398122675,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Asp,p.Glu1214Asp,c.3642G>T,missense_variant,Conflicting interpretations of pathogenicity,91610,,1,1461824,6.840768792960028e-7,0,0,,,19.8,0.512,0.00,0.00,1.16,0.0400,0.0220,0,33478,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43091889-C-T,17,43091889,rs398122675,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Glu,p.Glu1214Glu,c.3642G>A,synonymous_variant,Likely benign,427302,,7,1461824,0.000004788538155072019,0,0,sas,0.00003764999999999999,5.11,,0.00,0.0300,1.16,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,7,86254,0,0,0,60392,0,0 -17-43091889-C-G,17,43091889,rs398122675,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Asp,p.Glu1214Asp,c.3642G>C,missense_variant,Conflicting interpretations of pathogenicity,496369,,1,1461824,6.840768792960028e-7,0,0,,,19.9,0.512,0.00,0.0400,1.16,0.0400,0.0220,1,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43091891-C-T,17,43091891,rs80356923,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1214Lys,p.Glu1214Lys,c.3640G>A,missense_variant,Benign,54948,,285,1614052,0.00017657423676560607,0,0,nfe,0.00020279,26.0,0.562,0.00,0.0100,6.85,0.00,0.165,0,74930,0,0,14,60000,0,0,0,29604,0,0,0,44900,0,0,0,64026,0,0,0,6084,0,0,266,1180030,0,0,0,912,0,0,0,91078,0,0,5,62488,0,0 -17-43091891-C-A,17,43091891,rs80356923,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Ter,p.Glu1214Ter,c.3640G>T,stop_gained,Pathogenic,54949,lof_flag,1,1461856,6.840619048661428e-7,0,0,,,37.0,,0.00,0.0800,6.85,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43091895-T-C,17,43091895,rs148038877,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1212Ser,p.Ser1212Ser,c.3636A>G,synonymous_variant,Likely benign,136544,,104,1614066,0.00006443354856616768,0,0,nfe,0.00007408,7.02,,0.00,0.0400,-3.19,,,0,74936,0,0,0,60002,0,0,0,29600,0,0,0,44896,0,0,0,64038,0,0,0,6084,0,0,104,1180024,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43091901-C-G,17,43091901,rs1188253884,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Asp,p.Glu1210Asp,c.3630G>C,missense_variant,,,,1,628750,0.0000015904572564612325,0,0,,,20.6,0.535,0.00,0.0400,1.74,0.0500,0.628,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69796,0,0,1,33096,0,0 -17-43091901-C-T,17,43091901,rs1188253884,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Glu,p.Glu1210Glu,c.3630G>A,synonymous_variant,Likely benign,2681810,,1,628750,0.0000015904572564612325,0,0,,,7.65,,0.00,0.0300,1.74,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091902-T-C,17,43091902,rs1060502347,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Gly,p.Glu1210Gly,c.3629A>G,missense_variant,Conflicting interpretations of pathogenicity,409341,,2,1461842,0.0000013681369121970774,0,0,,,26.3,0.515,0.00,0.0200,4.61,0.00,0.549,0,33478,0,0,1,44720,0,0,0,26132,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091903-C-CT,17,43091903,rs80357729,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210ArgfsTer9,p.Glu1210ArgfsTer9,c.3627dup,frameshift_variant,Pathogenic,37534,lof_flag,5,1461836,0.0000034203563190398922,0,0,eas,0.00000835,31.0,,0.00,0.0500,4.90,,,0,33478,0,0,0,44720,0,0,0,26132,0,0,2,39696,0,0,0,53414,0,0,0,5768,0,0,3,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43091904-TA-T,17,43091904,rs80357571,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1209Ter,p.Leu1209Ter,c.3626del,frameshift_variant,Pathogenic,54943,lof_flag,3,628742,0.000004771432479458983,0,0,,,28.3,,0.00,0.0400,-0.823,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36066,0,0,3,53138,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091904-T-C,17,43091904,rs770579978,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1209Leu,p.Leu1209Leu,c.3627A>G,synonymous_variant,Likely benign,427289,,6,628742,0.000009542864958917966,0,0,nfe,0.00000716,6.82,,0.00,0.130,-0.823,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,6,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091906-A-C,17,43091906,rs273900711,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1209Val,p.Leu1209Val,c.3625T>G,missense_variant,Conflicting interpretations of pathogenicity,54942,,7,1614036,0.000004336954070417264,0,0,,,23.1,0.581,0.00,0.0100,0.974,0.0100,0.549,1,74920,0,0,0,59994,0,0,0,29602,0,0,1,44898,0,0,0,64030,0,0,0,6084,0,0,0,1180026,0,0,0,910,0,0,0,91084,0,0,5,62488,0,0 -17-43091909-T-C,17,43091909,rs80357152,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1208Glu,p.Lys1208Glu,c.3622A>G,missense_variant,Conflicting interpretations of pathogenicity,54940,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,18.9,0.502,0.00,0.00,4.67,0.0900,0.0490,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091910-C-T,17,43091910,rs1597862489,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1207Lys,p.Lys1207Lys,c.3621G>A,synonymous_variant,Likely benign,824001,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,3.57,,0.00,0.0100,0.791,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091912-T-C,17,43091912,rs80357455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1207Glu,p.Lys1207Glu,c.3619A>G,missense_variant,Conflicting interpretations of pathogenicity,89060,,1,628736,0.000001590492671009772,0,0,,,4.42,0.349,0.00,0.0100,0.0460,0.100,0.0440,0,17692,0,0,0,43734,0,0,0,20980,0,0,0,36064,0,0,0,53136,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43091915-C-T,17,43091915,rs1555587407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1206Thr,p.Ala1206Thr,c.3616G>A,missense_variant,Conflicting interpretations of pathogenicity,2072382,,2,628718,0.000003181076412636508,0,0,,,0.577,0.504,0.00,0.0500,-0.107,0.0500,0.235,0,17692,0,0,0,43734,0,0,0,20978,0,0,1,36062,0,0,0,53128,0,0,0,4148,0,0,0,350088,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43091916-C-T,17,43091916,rs750113197,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1205Gly,p.Gly1205Gly,c.3615G>A,synonymous_variant,Likely benign,184109,,5,1461832,0.000003420365678135381,0,0,nfe,8.4e-7,1.05,,0.00,0.120,0.389,,,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53408,0,0,0,5768,0,0,4,1111994,0,0,,,,,0,86254,0,0,1,60392,0,0 -17-43091919-T-C,17,43091919,rs537737635,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1204Arg,p.Arg1204Arg,c.3612A>G,synonymous_variant,Likely benign,234011,,30,1614170,0.000018585403024464586,0,0,sas,0.00021756,3.10,,0.00,0.0300,0.252,,,0,75054,0,0,0,60018,0,0,0,29602,0,0,0,44878,0,0,0,64030,0,0,1,6062,0,0,0,1180022,0,0,0,912,0,0,28,91086,0,0,1,62506,0,0 -17-43091920-C-G,17,43091920,rs1456509049,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1204Thr,p.Arg1204Thr,c.3611G>C,missense_variant,Conflicting interpretations of pathogenicity,485393,,1,833110,0.0000012003216862119048,0,0,,,10.4,0.335,0.00,0.0100,1.22,0.0500,0.0510,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43091923-C-T,17,43091923,rs55930959,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1203Gln,p.Arg1203Gln,c.3608G>A,missense_variant,Benign,54935,,107,1614022,0.0000662940158188674,0,0,nfe,0.000060400000000000004,0.128,0.415,0.00,0.0200,-3.18,1.00,0.00,1,74932,0,0,0,59974,0,0,0,29604,0,0,0,44892,0,0,16,64022,0,0,0,6084,0,0,86,1180026,0,0,0,912,0,0,1,91088,0,0,3,62488,0,0 -17-43091924-G-A,17,43091924,rs62625308,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1203Ter,p.Arg1203Ter,c.3607C>T,stop_gained,Pathogenic,17671,lof_flag,16,1613832,0.000009914290954696647,0,0,sas,0.00000875,34.0,,0.00,0.0400,0.924,,,1,74858,0,0,0,59954,0,0,1,29604,0,0,1,44872,0,0,0,63998,0,0,0,6084,0,0,10,1179990,0,0,0,912,0,0,3,91076,0,0,0,62484,0,0 -17-43091925-G-A,17,43091925,rs1597862580,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1202Tyr,p.Tyr1202Tyr,c.3606C>T,synonymous_variant,Likely benign,823981,,1,628690,0.0000015906090442030254,0,0,,,0.597,,0.00,0.00,0.100,,,0,17690,0,0,0,43730,0,0,0,20980,0,0,0,36056,0,0,0,53126,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,1,33094,0,0 -17-43091926-TA-T,17,43091926,rs886040150,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1202ThrfsTer8,p.Tyr1202ThrfsTer8,c.3604del,frameshift_variant,Pathogenic,266391,lof_flag,1,833110,0.0000012003216862119048,0,0,,,21.4,,0.00,0.0400,-1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091928-A-G,17,43091928,rs80356830,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1201Gly,p.Gly1201Gly,c.3603T>C,synonymous_variant,Likely benign,531507,,1,1461798,6.840890465030052e-7,0,0,,,3.84,,0.00,0.0400,0.157,,,0,33476,0,0,0,44710,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5768,0,0,0,1111976,0,0,,,,,1,86254,0,0,0,60392,0,0 -17-43091929-C-T,17,43091929,rs1567790971,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1201Asp,p.Gly1201Asp,c.3602G>A,missense_variant,Conflicting interpretations of pathogenicity,630054,,1,628694,0.0000015905989241188878,0,0,,,0.784,0.455,0.00,0.150,0.296,0.0900,0.0270,0,17690,0,0,0,43730,0,0,0,20980,0,0,0,36056,0,0,0,53130,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43091930-C-T,17,43091930,rs55725337,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1201Ser,p.Gly1201Ser,c.3601G>A,missense_variant,Benign/Likely benign,54932,,19,1613974,0.000011772184682033292,0,0,nfe,0.00000953,1.51,0.395,0.00,0.0900,0.402,0.450,0.0150,0,74922,0,0,1,59988,0,0,0,29604,0,0,0,44884,0,0,0,64010,0,0,0,6084,0,0,18,1180006,0,0,0,912,0,0,0,91080,0,0,0,62484,0,0 -17-43091931-C-T,17,43091931,rs56214134,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Gln,p.Gln1200Gln,c.3600G>A,synonymous_variant,Likely benign,2450682,,8,1461796,0.000005472719859679463,0,0,nfe,0.0000031,1.57,,0.00,0.120,0.869,,,0,33476,0,0,0,44710,0,0,0,26132,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,8,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43091931-C-G,17,43091931,rs56214134,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1200His,p.Gln1200His,c.3600G>C,missense_variant,Benign/Likely benign,54930,,347,1614128,0.0002149767552511325,3,0,afr,0.0039686500000000015,17.8,0.464,0.00,0.110,0.869,0.0200,0.179,327,75046,3,0,4,60008,0,0,0,29604,0,0,0,44878,0,0,0,64028,0,0,0,6062,0,0,6,1180002,0,0,0,912,0,0,1,91082,0,0,9,62506,0,0 -17-43091931-C-A,17,43091931,rs56214134,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1200His,p.Gln1200His,c.3600G>T,missense_variant,Benign,54931,,66,1614128,0.00004088895056649782,0,0,amr,0.0004739700000000001,17.7,0.457,0.00,0.0800,0.869,0.0200,0.179,0,75046,0,0,38,60008,0,0,0,29604,0,0,1,44878,0,0,0,64028,0,0,0,6062,0,0,25,1180002,0,0,0,912,0,0,0,91082,0,0,2,62506,0,0 -17-43091932-T-C,17,43091932,rs2154300137,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Arg,p.Gln1200Arg,c.3599A>G,missense_variant,,,,1,833058,0.0000012003966110402877,0,0,,,1.09,0.532,0.00,0.100,-1.27,0.410,0.0500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761852,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091933-G-A,17,43091933,rs62625307,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Ter,p.Gln1200Ter,c.3598C>T,stop_gained,Pathogenic,54929,lof_flag,4,1461780,0.0000027363898808302205,0,0,nfe,2.999999999999999e-7,34.0,,0.00,0.0300,3.43,,,0,33478,0,0,0,44706,0,0,0,26132,0,0,0,39682,0,0,0,53400,0,0,0,5768,0,0,2,1111972,0,0,,,,,1,86252,0,0,1,60390,0,0 -17-43091935-G-A,17,43091935,rs587782458,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1199Val,p.Ala1199Val,c.3596C>T,missense_variant,Conflicting interpretations of pathogenicity,142428,,28,1613958,0.00001734865467378953,0,0,eas,0.0004052800000000001,9.97,0.352,0.0100,0.0100,1.56,0.270,0.168,0,74918,0,0,0,59980,0,0,0,29600,0,0,26,44876,0,0,0,64010,0,0,0,6084,0,0,0,1180014,0,0,0,912,0,0,0,91088,0,0,2,62476,0,0 -17-43091941-TGTGTATGG-T,17,43091941,rs886040146,TGTGTATGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195PhefsTer21,p.His1195PhefsTer21,c.3582_3589del,frameshift_variant,Pathogenic,266387,lof_flag,1,628686,0.0000015906191644159405,0,0,,,23.7,,0.00,0.0100,-0.608,,,0,17690,0,0,0,43718,0,0,0,20980,0,0,0,36058,0,0,0,53126,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,1,33094,0,0 -17-43091942-G-A,17,43091942,rs2154300713,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1197Tyr,p.His1197Tyr,c.3589C>T,missense_variant,,,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,0.00400,0.414,0.00,0.00,-1.68,0.580,0.0100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091943-T-C,17,43091943,rs876658595,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1196Thr,p.Thr1196Thr,c.3588A>G,synonymous_variant,Likely benign,230491,,3,152198,0.00001971116571834058,0,0,afr,0.00001919,1.16,,0.00,0.0400,-0.728,,,3,41458,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43091943-T-G,17,43091943,rs876658595,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1196Thr,p.Thr1196Thr,c.3588A>C,synonymous_variant,Likely benign,481439,,6,1461804,0.000004104517431885534,0,0,nfe,0.00000194,0.997,,0.00,0.00,-0.728,,,0,33476,0,0,0,44704,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,6,1111986,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43091944-G-A,17,43091944,rs80356944,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1196Ile,p.Thr1196Ile,c.3587C>T,missense_variant,Conflicting interpretations of pathogenicity,54926,,3,780984,0.00000384130788850988,0,0,,,2.71,0.370,0.00,0.00,1.36,0.0900,0.0580,0,59244,0,0,0,59006,0,0,0,24452,0,0,0,41242,0,0,0,63752,0,0,1,4442,0,0,2,418098,0,0,0,912,0,0,0,74628,0,0,0,35208,0,0 -17-43091945-T-C,17,43091945,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1196Ala,p.Thr1196Ala,c.3586A>G,missense_variant,Uncertain significance,2663340,,1,628688,0.0000015906141042933855,0,0,,,1.95,0.306,0.00,0.0200,-0.311,0.500,0.0240,0,17690,0,0,0,43718,0,0,0,20980,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33094,0,0 -17-43091947-T-C,17,43091947,rs28897685,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195Arg,p.His1195Arg,c.3584A>G,missense_variant,Conflicting interpretations of pathogenicity,142258,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,7.49,0.489,0.00,0.0600,-1.46,0.180,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091948-G-A,17,43091948,rs876659903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195Tyr,p.His1195Tyr,c.3583C>T,missense_variant,Conflicting interpretations of pathogenicity,232653,,1,628674,0.0000015906495258273763,0,0,,,15.9,0.444,0.00,0.0400,1.58,0.0400,0.133,0,17688,0,0,0,43716,0,0,0,20978,0,0,0,36056,0,0,0,53124,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43091950-G-A,17,43091950,rs80357290,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194Ile,p.Thr1194Ile,c.3581C>T,missense_variant,Conflicting interpretations of pathogenicity,54922,,12,1461774,0.000008209203337862077,0,0,nfe,0.00000531,6.53,0.585,0.00,0.0400,-0.239,0.0900,0.0580,0,33474,0,0,0,44698,0,0,0,26130,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,11,1111976,0,0,,,,,0,86254,0,0,1,60392,0,0 -17-43091951-T-C,17,43091951,rs369982706,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194Ala,p.Thr1194Ala,c.3580A>G,missense_variant,Conflicting interpretations of pathogenicity,409316,,5,833108,0.000006001622838815616,0,0,nfe,0.0000019200000000000003,2.92,0.298,0.00,0.0400,-0.179,0.630,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091952-G-GA,17,43091952,rs397509083,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194HisfsTer25,p.Thr1194HisfsTer25,c.3578dup,frameshift_variant,Pathogenic,54920,lof_flag,1,833108,0.0000012003245677631232,0,0,,,24.3,,0.00,0.0100,-0.366,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091955-A-G,17,43091955,rs766447664,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1192Pro,p.Pro1192Pro,c.3576T>C,synonymous_variant,Likely benign,415564,,5,1613972,0.0000030979471762831077,0,0,nfe,2.8000000000000007e-7,10.7,,0.00,0.0100,1.21,,,0,74924,0,0,0,59972,0,0,2,29604,0,0,0,44892,0,0,0,64016,0,0,0,6084,0,0,2,1180002,0,0,0,912,0,0,0,91082,0,0,1,62484,0,0 -17-43091956-G-A,17,43091956,rs2154301942,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1192Leu,p.Pro1192Leu,c.3575C>T,missense_variant,,,,2,1461774,0.0000013682005563103463,0,0,nfe,2.999999999999999e-7,22.7,0.526,0.00,0.0100,2.85,0.0200,0.562,0,33474,0,0,0,44698,0,0,0,26132,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43091957-G-A,17,43091957,rs754014157,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1192Ser,p.Pro1192Ser,c.3574C>T,missense_variant,Conflicting interpretations of pathogenicity,918749,,6,780756,0.000007684859290226396,0,0,,,24.3,0.501,0.00,0.00,4.14,0.0100,0.973,0,59062,0,0,0,58974,0,0,0,24450,0,0,0,41256,0,0,2,63730,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74622,0,0,4,35184,0,0 -17-43091958-G-A,17,43091958,rs864622080,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1191Ser,p.Ser1191Ser,c.3573C>T,synonymous_variant,Likely benign,219423,,2,780868,0.000002561252349949031,0,0,,,8.63,,0.00,0.0100,1.17,,,0,59142,0,0,2,59000,0,0,0,24452,0,0,0,41264,0,0,0,63728,0,0,0,4464,0,0,0,418096,0,0,0,912,0,0,0,74624,0,0,0,35186,0,0 -17-43091959-C-T,17,43091959,rs878854948,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1191Asn,p.Ser1191Asn,c.3572G>A,missense_variant,Conflicting interpretations of pathogenicity,240794,,3,1613968,0.0000018587729124741012,0,0,nfe,6.800000000000001e-7,22.1,0.392,0.00,0.0200,4.15,0.0200,0.210,0,74926,0,0,0,59972,0,0,0,29602,0,0,0,44888,0,0,0,64018,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91086,0,0,0,62482,0,0 -17-43091960-T-C,17,43091960,rs2053563998,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1191Gly,p.Ser1191Gly,c.3571A>G,missense_variant,Conflicting interpretations of pathogenicity,924367,,1,628674,0.0000015906495258273763,0,0,,,17.7,0.309,0.0100,0.0400,1.07,0.0700,0.0480,0,17688,0,0,0,43720,0,0,0,20978,0,0,0,36058,0,0,0,53120,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33092,0,0 -17-43091962-G-A,17,43091962,rs755209182,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1190Leu,p.Pro1190Leu,c.3569C>T,missense_variant,Conflicting interpretations of pathogenicity,233875,,1,628662,0.000001590679888397899,0,0,,,21.2,0.815,0.00,0.00,4.10,0.0600,0.677,0,17690,0,0,1,43718,0,0,0,20978,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43091963-G-A,17,43091963,rs2053564906,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1190Ser,p.Pro1190Ser,c.3568C>T,missense_variant,Conflicting interpretations of pathogenicity,1732756,,1,628688,0.0000015906141042933855,0,0,,,16.3,0.566,0.00,0.00,4.11,0.230,0.780,0,17688,0,0,0,43724,0,0,0,20978,0,0,0,36062,0,0,0,53118,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43091967-C-A,17,43091967,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1188Ser,p.Arg1188Ser,c.3564G>T,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,20.0,0.588,0.00,0.0100,1.34,0.170,0.521,1,33474,0,0,0,44708,0,0,0,26132,0,0,0,39686,0,0,0,53390,0,0,0,5768,0,0,0,1111966,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43091967-C-G,17,43091967,rs879255484,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1188Ser,p.Arg1188Ser,c.3564G>C,missense_variant,Conflicting interpretations of pathogenicity,252874,,2,1613972,0.000001239178870513243,0,0,,,20.2,0.588,0.00,0.0500,1.34,0.170,0.521,0,74932,0,0,1,59986,0,0,0,29604,0,0,0,44882,0,0,0,64010,0,0,0,6084,0,0,0,1179998,0,0,0,912,0,0,0,91078,0,0,1,62486,0,0 -17-43091971-C-T,17,43091971,rs80356975,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1187Asn,p.Ser1187Asn,c.3560G>A,missense_variant,Conflicting interpretations of pathogenicity,54917,,6,780894,0.000007683501217834942,0,0,amr,0.00001349,9.31,0.372,0.00,0.0400,1.17,0.430,0.137,0,59150,0,0,3,59002,0,0,0,24450,0,0,0,41254,0,0,0,63736,0,0,0,4464,0,0,3,418114,0,0,0,912,0,0,0,74624,0,0,0,35188,0,0 -17-43091975-G-A,17,43091975,rs1555587505,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1186Phe,p.Leu1186Phe,c.3556C>T,missense_variant,Conflicting interpretations of pathogenicity,531251,,1,833108,0.0000012003245677631232,0,0,,,0.311,0.176,0.00,0.00,0.486,1.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091975-G-C,17,43091975,rs1555587505,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1186Val,p.Leu1186Val,c.3556C>G,missense_variant,Conflicting interpretations of pathogenicity,1004786,,1,833108,0.0000012003245677631232,0,0,,,2.71,0.331,0.110,0.100,0.486,0.160,0.0270,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091976-C-T,17,43091976,rs587779368,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1185Glu,p.Glu1185Glu,c.3555G>A,synonymous_variant,Likely benign,1732623,,2,1461808,0.0000013681687335135667,0,0,,,0.342,,0.00,0.0400,-0.958,,,0,33476,0,0,0,44714,0,0,0,26132,0,0,1,39690,0,0,0,53392,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86254,0,0,1,60392,0,0 -17-43091976-C-A,17,43091976,rs587779368,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1185Asp,p.Glu1185Asp,c.3555G>T,missense_variant,Conflicting interpretations of pathogenicity,89059,,3,1461808,0.00000205225310027035,0,0,,,0.580,0.541,0.00,0.0200,-0.958,0.0800,0.391,0,33476,0,0,0,44714,0,0,0,26132,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86254,0,0,3,60392,0,0 -17-43091979-TC-T,17,43091979,,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1184GlufsTer26,p.Gly1184GlufsTer26,c.3551del,frameshift_variant,,,lof_flag,1,628710,0.000001590558445070064,0,0,,,22.8,,0.00,0.0300,2.79,,,0,17690,0,0,0,43732,0,0,0,20980,0,0,0,36064,0,0,0,53116,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43091981-C-T,17,43091981,rs1472194405,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1184Arg,p.Gly1184Arg,c.3550G>A,missense_variant,Likely benign,1732593,,1,628710,0.000001590558445070064,0,0,,,0.236,0.333,0.00,0.0100,0.544,0.940,0.0200,0,17690,0,0,1,43734,0,0,0,20980,0,0,0,36060,0,0,0,53116,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091982-T-A,17,43091982,rs2154304049,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Asn,p.Lys1183Asn,c.3549A>T,missense_variant,,,,1,628720,0.0000015905331467107776,0,0,,,11.3,0.143,0.00,0.0400,1.22,0.150,0.0250,0,17690,0,0,0,43736,0,0,0,20980,0,0,0,36062,0,0,0,53122,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091982-T-C,17,43091982,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Lys,p.Lys1183Lys,c.3549A>G,synonymous_variant,,,,1,628720,0.0000015905331467107776,0,0,,,3.42,,0.00,0.0100,1.22,,,0,17690,0,0,0,43736,0,0,0,20980,0,0,0,36062,0,0,0,53122,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091983-T-A,17,43091983,rs16942,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Ile,p.Lys1183Ile,c.3548A>T,missense_variant,Conflicting interpretations of pathogenicity,531339,,1,1461744,6.84114318239035e-7,0,0,,,14.9,0.375,0.00,0.0100,0.866,0.0100,0.372,0,33476,0,0,1,44708,0,0,0,26132,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,0,1111938,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091983-T-C,17,43091983,rs16942,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1183Arg,p.Lys1183Arg,c.3548A>G,missense_variant,Benign,41818,,542417,1613632,0.3361466554951811,93431,0,sas,0.49501444999999994,1.10,0.0670,0.00,0.00,0.866,1.00,0.00,17342,74962,2043,0,19309,59964,3167,0,10816,29596,1962,0,15929,44858,2879,0,25407,63946,5020,0,2241,6060,437,0,384479,1179768,62593,0,258,908,41,0,45432,91072,11641,0,21204,62498,3648,0 -17-43091985-C-G,17,43091985,rs2154304291,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1182His,p.Gln1182His,c.3546G>C,missense_variant,,,,2,1461810,0.0000013681668616304443,0,0,nfe,2.999999999999999e-7,10.6,0.476,0.00,0.00,0.689,0.0300,0.334,0,33476,0,0,0,44720,0,0,0,26132,0,0,0,39694,0,0,0,53384,0,0,0,5768,0,0,2,1111990,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43091986-T-C,17,43091986,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1182Arg,p.Gln1182Arg,c.3545A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,12.2,0.446,0.00,0.0900,0.138,0.130,0.808,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091988-G-T,17,43091988,rs1567791230,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Val,p.Val1181Val,c.3543C>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.22,,0.00,0.0100,1.52,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43091990-C-T,17,43091990,rs56336919,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1181Ile,p.Val1181Ile,c.3541G>A,missense_variant,Benign,54911,,73,1614060,0.000045227562791965604,1,0,sas,0.00018988,1.43,0.376,0.00,0.00,0.168,0.140,0.0130,2,75028,0,0,2,60010,0,0,0,29604,0,0,2,44876,0,0,0,63984,0,0,0,6062,0,0,38,1180010,0,0,0,910,0,0,25,91076,1,0,4,62500,0,0 -17-43091990-C-G,17,43091990,rs56336919,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Leu,p.Val1181Leu,c.3541G>C,missense_variant,Conflicting interpretations of pathogenicity,1346072,,2,1461798,0.0000013681780930060105,0,0,amr,0.000007410000000000001,7.49,0.500,0.00,0.00,0.168,0.0800,0.131,0,33478,0,0,2,44720,0,0,0,26132,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091990-C-A,17,43091990,rs56336919,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Phe,p.Val1181Phe,c.3541G>T,missense_variant,Conflicting interpretations of pathogenicity,823906,,2,1461798,0.0000013681780930060105,0,0,,,3.49,0.498,0.00,0.00,0.168,0.140,0.686,1,33478,0,0,0,44720,0,0,0,26132,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86256,0,0,0,60394,0,0 -17-43091991-G-A,17,43091991,rs928545955,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1180Ser,p.Ser1180Ser,c.3540C>T,synonymous_variant,Likely benign,381400,,5,1461798,0.000003420445232515026,0,0,nfe,2.999999999999999e-7,2.46,,0.00,0.00,1.04,,,0,33480,0,0,1,44718,0,0,0,26132,0,0,1,39694,0,0,0,53364,0,0,0,5768,0,0,2,1111992,0,0,,,,,0,86256,0,0,1,60394,0,0 -17-43091992-C-T,17,43091992,rs1064793057,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1180Asn,p.Ser1180Asn,c.3539G>A,missense_variant,Conflicting interpretations of pathogenicity,418069,,1,628712,0.0000015905533853338253,0,0,,,0.809,0.363,0.00,0.0100,0.699,0.220,0.140,0,17694,0,0,0,43732,0,0,0,20980,0,0,0,36064,0,0,0,53104,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43091998-C-T,17,43091998,rs1294360179,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1178Asn,p.Ser1178Asn,c.3533G>A,missense_variant,Conflicting interpretations of pathogenicity,441297,,2,152140,0.000013145786775338504,0,0,afr,0.000008,9.14,0.236,0.00,0.100,2.82,0.320,0.0800,2,41438,0,0,0,15268,0,0,0,3468,0,0,0,5194,0,0,0,10612,0,0,0,316,0,0,0,68022,0,0,0,910,0,0,0,4822,0,0,0,2090,0,0 -17-43091998-C-A,17,43091998,rs1294360179,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1178Ile,p.Ser1178Ile,c.3533G>T,missense_variant,Conflicting interpretations of pathogenicity,1054658,,1,833106,0.0000012003274493281767,0,0,,,16.2,0.413,0.00,0.100,2.82,0.0400,0.149,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092005-C-T,17,43092005,rs777796838,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1176Ile,p.Val1176Ile,c.3526G>A,missense_variant,Conflicting interpretations of pathogenicity,565640,,2,628702,0.000003181157368673871,0,0,,,12.9,0.483,0.00,0.00,1.40,0.0900,0.742,0,17694,0,0,0,43736,0,0,0,20982,0,0,1,36064,0,0,0,53088,0,0,1,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43092006-A-C,17,43092006,rs1131692086,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1175Ala,p.Ala1175Ala,c.3525T>G,synonymous_variant,Likely benign,427276,,1,628700,0.0000015905837442341339,0,0,,,9.19,,0.00,0.0300,0.00800,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43092006-A-G,17,43092006,rs1131692086,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1175Ala,p.Ala1175Ala,c.3525T>C,synonymous_variant,,,,1,628700,0.0000015905837442341339,0,0,,,9.48,,0.00,0.0200,0.00800,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53084,0,0,1,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43092010-G-T,17,43092010,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1174Tyr,p.Ser1174Tyr,c.3521C>A,missense_variant,,,,1,833096,0.0000012003418573609765,0,0,,,24.7,0.712,0.00,0.0100,8.79,0.00,0.999,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43092010-G-C,17,43092010,rs1055368753,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1174Cys,p.Ser1174Cys,c.3521C>G,missense_variant,Conflicting interpretations of pathogenicity,651521,,1,833096,0.0000012003418573609765,0,0,,,24.9,0.682,0.00,0.0100,8.79,0.00,0.999,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27296,0,0 -17-43092012-A-G,17,43092012,rs1597863152,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1173Ser,p.Ser1173Ser,c.3519T>C,synonymous_variant,Likely benign,759863,,1,628684,0.0000015906242245706906,0,0,,,3.03,,0.00,0.0100,-0.0670,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36064,0,0,0,53072,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43092013-C-T,17,43092013,rs746949187,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1173Asn,p.Ser1173Asn,c.3518G>A,missense_variant,Conflicting interpretations of pathogenicity,240793,,10,780884,0.000012805999354577632,0,0,nfe,0.00001209,3.80,0.226,0.0100,0.0100,0.350,0.0500,0.0390,0,59142,0,0,0,59016,0,0,0,24452,0,0,0,41266,0,0,0,63684,0,0,0,4464,0,0,10,418132,0,0,0,910,0,0,0,74628,0,0,0,35190,0,0 -17-43092016-T-C,17,43092016,rs80357206,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1172Gly,p.Glu1172Gly,c.3515A>G,missense_variant,Conflicting interpretations of pathogenicity,54907,,2,152206,0.000013140086461768918,0,0,nfe,0.00000488,25.3,0.693,0.00,0.0100,6.35,0.00,0.992,0,41436,0,0,0,15286,0,0,0,3470,0,0,0,5200,0,0,0,10624,0,0,0,316,0,0,2,68038,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43092017-C-A,17,43092017,rs397509079,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1172Ter,p.Glu1172Ter,c.3514G>T,stop_gained,Pathogenic,54906,lof_flag,1,628674,0.0000015906495258273763,0,0,,,37.0,,0.00,0.0200,7.11,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53060,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69796,0,0,1,33098,0,0 -17-43092021-A-C,17,43092021,rs183119644,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1170Met,p.Ile1170Met,c.3510T>G,missense_variant,Conflicting interpretations of pathogenicity,650534,,4,1614034,0.000002478262539698668,0,0,nfe,7.899999999999998e-7,20.2,0.584,0.00,0.0900,0.731,0.0100,0.506,0,75022,0,0,0,60012,0,0,0,29600,0,0,0,44882,0,0,0,63952,0,0,0,6062,0,0,4,1180000,0,0,0,912,0,0,0,91084,0,0,0,62508,0,0 -17-43092022-A-T,17,43092022,rs780869838,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1170Asn,p.Ile1170Asn,c.3509T>A,missense_variant,,,,1,628670,0.0000015906596465554266,0,0,,,23.0,0.517,0.00,0.0400,0.985,0.00,0.903,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53058,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43092023-T-C,17,43092023,rs273899708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1170Val,p.Ile1170Val,c.3508A>G,missense_variant,Conflicting interpretations of pathogenicity,479203,,2,1461788,0.0000013681874526265095,0,0,,,0.767,0.488,0.00,0.0300,-1.30,0.240,0.0290,0,33480,0,0,1,44722,0,0,0,26134,0,0,1,39696,0,0,0,53340,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43092026-C-A,17,43092026,rs876659269,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1169Tyr,p.Asp1169Tyr,c.3505G>T,missense_variant,Conflicting interpretations of pathogenicity,231627,,1,833102,0.0000012003332124997898,0,0,,,20.9,0.453,0.00,0.00,2.47,0.00,0.873,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092034-G-A,17,43092034,rs2154308367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1166Val,p.Ala1166Val,c.3497C>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,14.0,0.437,0.00,0.0100,0.865,0.100,0.170,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092035-C-G,17,43092035,rs745418679,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1166Pro,p.Ala1166Pro,c.3496G>C,missense_variant,Conflicting interpretations of pathogenicity,216663,,1,628662,0.000001590679888397899,0,0,,,19.9,0.476,0.00,0.0100,0.112,0.0100,0.214,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53048,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43092039-ACTAGTATCTTC-A,17,43092039,rs80357877,ACTAGTATCTTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1161PhefsTer3,p.Glu1161PhefsTer3,c.3481_3491del,frameshift_variant,Pathogenic,17684,lof_flag,3,1461770,0.0000020523064503991737,0,0,nfe,7.200000000000001e-7,27.4,,0.00,0.0400,3.41,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53320,0,0,0,5768,0,0,3,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43092040-C-A,17,43092040,rs397509075,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1164Ile,p.Ser1164Ile,c.3491G>T,missense_variant,Conflicting interpretations of pathogenicity,54900,,1,628642,0.0000015907304952580323,0,0,,,22.4,0.622,0.00,0.0800,1.87,0.00,0.354,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53034,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69796,0,0,1,33098,0,0 -17-43092043-G-C,17,43092043,rs80356918,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1163Ser,p.Thr1163Ser,c.3488C>G,missense_variant,Conflicting interpretations of pathogenicity,1419542,,2,1461736,0.0000013682361247174592,0,0,,,0.708,0.427,0.00,0.0100,-0.431,0.280,0.0130,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53302,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86256,0,0,1,60396,0,0 -17-43092043-G-A,17,43092043,rs80356918,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1163Ile,p.Thr1163Ile,c.3488C>T,missense_variant,Likely benign,54899,,1,152278,0.000006566936786666491,0,0,,,1.45,0.398,0.00,0.00,-0.431,0.270,0.00700,0,41544,0,0,0,15284,0,0,0,3466,0,0,1,5192,0,0,0,10612,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2114,0,0 -17-43092044-T-C,17,43092044,rs769456095,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1163Ala,p.Thr1163Ala,c.3487A>G,missense_variant,Conflicting interpretations of pathogenicity,479235,,8,1461744,0.00000547291454591228,0,0,nfe,0.0000013199999999999999,13.4,0.362,0.00,0.0300,-0.124,0.150,0.0240,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53316,0,0,0,5768,0,0,5,1111980,0,0,,,,,1,86256,0,0,2,60396,0,0 -17-43092045-A-G,17,43092045,rs1555587617,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1162Asp,p.Asp1162Asp,c.3486T>C,synonymous_variant,Likely benign,482922,,1,628650,0.000001590710252127575,0,0,,,8.59,,0.00,0.0300,-0.263,,,0,17690,0,0,1,43740,0,0,0,20982,0,0,0,36066,0,0,0,53044,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69796,0,0,0,33098,0,0 -17-43092045-AT-A,17,43092045,rs80357509,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1162ValfsTer48,p.Asp1162ValfsTer48,c.3485del,frameshift_variant,Pathogenic,37531,lof_flag,3,780850,0.00000384196708714862,0,0,nfe,0.0000019100000000000003,25.0,,0.0100,0.0300,-0.263,,,0,59138,0,0,0,59008,0,0,0,24450,0,0,0,41268,0,0,0,63660,0,0,0,4464,0,0,3,418134,0,0,0,912,0,0,0,74626,0,0,0,35190,0,0 -17-43092047-C-G,17,43092047,rs1555587619,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1162His,p.Asp1162His,c.3484G>C,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,18.8,0.349,0.00,0.00,1.22,0.0300,0.0170,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092049-T-G,17,43092049,rs2053579677,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1161Ala,p.Glu1161Ala,c.3482A>C,missense_variant,Conflicting interpretations of pathogenicity,1509039,,7,1613962,0.00000433715291933763,0,0,sas,0.000021040000000000002,22.3,0.457,0.00,0.0100,1.49,0.0500,0.926,0,74926,0,0,0,59990,0,0,0,29602,0,0,0,44904,0,0,0,63936,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,5,91088,0,0,2,62488,0,0 -17-43092050-C-T,17,43092050,rs786203438,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1161Lys,p.Glu1161Lys,c.3481G>A,missense_variant,Conflicting interpretations of pathogenicity,823822,,1,1461756,6.841087021363347e-7,0,0,,,23.9,0.591,0.00,0.00,5.94,0.0400,0.780,0,33478,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53312,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86256,0,0,0,60396,0,0 -17-43092051-C-T,17,43092051,rs2053580143,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1160Lys,p.Lys1160Lys,c.3480G>A,synonymous_variant,Likely benign,1131870,,1,152168,0.000006571683928289785,0,0,,,5.64,,0.00,0.0600,1.92,,,1,41444,0,0,0,15256,0,0,0,3464,0,0,0,5208,0,0,0,10606,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43092052-TTTA-T,17,43092052,,TTTA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1159del,p.Ile1159del,c.3476_3478del,inframe_deletion,Uncertain significance,2585831,,2,628650,0.00000318142050425515,0,0,eas,0.00000919,13.5,,0.00,0.0200,2.29,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,53030,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092057-T-G,17,43092057,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1158Asp,p.Glu1158Asp,c.3474A>C,missense_variant,,,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,15.7,0.499,0.00,0.0100,1.18,0.340,0.411,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092063-A-G,17,43092063,rs864622146,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Asp,p.Asp1156Asp,c.3468T>C,synonymous_variant,Likely benign,219540,,24,1461768,0.000016418474067020212,0,0,nfe,0.000014599999999999999,3.54,,0.00,0.0600,0.277,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53314,0,0,0,5768,0,0,24,1112002,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092064-T-C,17,43092064,rs2154312065,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Gly,p.Asp1156Gly,c.3467A>G,missense_variant,,,,1,628660,0.0000015906849489390132,0,0,,,17.6,0.379,0.00,0.00,0.458,0.120,0.143,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,53040,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092064-T-A,17,43092064,rs2154312065,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Val,p.Asp1156Val,c.3467A>T,missense_variant,Conflicting interpretations of pathogenicity,1731692,,1,628660,0.0000015906849489390132,0,0,,,21.4,0.537,0.00,0.00,0.458,0.0200,0.688,0,17694,0,0,0,43738,0,0,0,20982,0,0,1,36068,0,0,0,53040,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092065-C-T,17,43092065,rs1064793302,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Asn,p.Asp1156Asn,c.3466G>A,missense_variant,Conflicting interpretations of pathogenicity,418557,,1,628650,0.000001590710252127575,0,0,,,20.3,0.406,0.00,0.0100,2.29,0.0400,0.443,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53028,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092067-T-C,17,43092067,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1155Gly,p.Asp1155Gly,c.3464A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,13.7,0.513,0.00,0.0100,0.493,0.0800,0.175,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43092068-C-G,17,43092068,rs80357484,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1155His,p.Asp1155His,c.3463G>C,missense_variant,Benign,54891,,3,1461748,0.0000020523373385836683,0,0,nfe,7.200000000000001e-7,22.8,0.518,0.00,0.0900,1.48,0.0500,0.245,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,3,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092072-C-G,17,43092072,rs1482441548,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1153Leu,p.Leu1153Leu,c.3459G>C,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,1.21,,0.00,0.0100,0.174,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43092075-G-A,17,43092075,rs2154314157,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1152Asp,p.Asp1152Asp,c.3456C>T,synonymous_variant,,,,2,985342,0.0000020297521063752485,0,0,,,1.16,,0.00,0.00,0.114,,,0,57324,0,0,0,16268,0,0,0,8624,0,0,1,8816,0,0,0,10876,0,0,0,1914,0,0,1,829920,0,0,0,910,0,0,0,21276,0,0,0,29414,0,0 -17-43092077-C-A,17,43092077,rs80357175,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1152Tyr,p.Asp1152Tyr,c.3454G>T,missense_variant,,,,1,1461736,6.841180623587296e-7,0,0,,,22.9,0.644,0.00,0.0100,2.92,0.00,0.652,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53284,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092077-C-T,17,43092077,rs80357175,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1152Asn,p.Asp1152Asn,c.3454G>A,missense_variant,Conflicting interpretations of pathogenicity,54890,,44,1613928,0.000027262678384661523,1,0,nfe,0.00002826,16.1,0.370,0.00,0.00,2.92,0.0900,0.216,0,74926,0,0,0,59996,0,0,0,29606,0,0,0,44894,0,0,0,63900,0,0,0,6084,0,0,44,1180036,1,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43092077-C-G,17,43092077,rs80357175,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1152His,p.Asp1152His,c.3454G>C,missense_variant,Conflicting interpretations of pathogenicity,496367,,1,1461736,6.841180623587296e-7,0,0,,,22.8,0.588,0.00,0.00,2.92,0.0100,0.966,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53284,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092079-T-G,17,43092079,rs1419874153,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1151Ala,p.Asp1151Ala,c.3452A>C,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,23.7,0.560,0.00,0.00,6.36,0.00,0.901,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53020,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092082-G-C,17,43092082,rs587782752,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1150Arg,p.Pro1150Arg,c.3449C>G,missense_variant,,,,3,780806,0.000003842183589777742,0,0,eas,0.00000803,24.0,0.786,0.00,0.0100,7.03,0.00,0.998,0,59144,0,0,0,59002,0,0,0,24452,0,0,2,41268,0,0,0,63630,0,0,0,4464,0,0,1,418122,0,0,0,912,0,0,0,74620,0,0,0,35192,0,0 -17-43092083-G-A,17,43092083,rs80357272,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1150Ser,p.Pro1150Ser,c.3448C>T,missense_variant,Benign,54887,,48,1613976,0.000029740219185415396,0,0,eas,0.0007890900000000002,23.7,0.856,0.00,0.0100,7.04,0.00,0.968,0,75030,0,0,0,60016,0,0,0,29604,0,0,46,44884,0,0,0,63882,0,0,0,6062,0,0,1,1180010,0,0,0,912,0,0,0,91064,0,0,1,62512,0,0 -17-43092089-C-T,17,43092089,rs886038012,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1148Lys,p.Glu1148Lys,c.3442G>A,missense_variant,Conflicting interpretations of pathogenicity,956650,,1,833078,0.0000012003677926916808,0,0,,,23.6,0.679,0.00,0.0100,4.24,0.0100,0.829,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761872,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43092091-G-A,17,43092091,rs876660757,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1147Phe,p.Ser1147Phe,c.3440C>T,missense_variant,,,,1,152158,0.000006572115826969334,0,0,,,24.6,0.816,0.00,0.00,5.89,0.00,0.994,0,41432,0,0,0,15270,0,0,0,3468,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43092094-C-G,17,43092094,rs80357247,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1146Ser,p.Cys1146Ser,c.3437G>C,missense_variant,Conflicting interpretations of pathogenicity,54886,,1,628630,0.000001590760860919778,0,0,,,23.3,0.547,0.0400,0.100,5.03,0.00,0.986,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53012,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092096-A-G,17,43092096,rs786201222,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1145Val,p.Val1145Val,c.3435T>C,synonymous_variant,Benign/Likely benign,184013,,7,1614016,0.000004337007811570641,0,0,nfe,6.800000000000001e-7,5.37,,0.00,0.0400,1.06,,,0,75056,0,0,0,60026,0,0,0,29604,0,0,0,44894,0,0,0,63908,0,0,0,6062,0,0,3,1179966,0,0,0,912,0,0,1,91078,0,0,3,62510,0,0 -17-43092098-C-A,17,43092098,rs431825396,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1145Phe,p.Val1145Phe,c.3433G>T,missense_variant,Conflicting interpretations of pathogenicity,96912,,2,1461694,0.0000013682754393190367,0,0,,,12.7,0.556,0.0100,0.0200,-0.409,0.00,0.963,0,33478,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53268,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60396,0,0 -17-43092098-C-T,17,43092098,rs431825396,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1145Ile,p.Val1145Ile,c.3433G>A,missense_variant,Conflicting interpretations of pathogenicity,491062,,3,1461694,0.000002052413158978555,0,0,eas,0.00000835,0.0650,0.332,0.0500,0.0800,-0.409,0.580,0.130,0,33478,0,0,0,44724,0,0,0,26134,0,0,2,39698,0,0,0,53268,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60396,0,0 -17-43092099-C-T,17,43092099,rs80356922,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1144Gln,p.Gln1144Gln,c.3432G>A,synonymous_variant,Benign,187223,,2,780790,0.000002561508216037603,0,0,,,3.41,,0.0900,0.150,3.29,,,0,59132,0,0,0,59014,0,0,0,24450,0,0,0,41272,0,0,0,63608,0,0,0,4464,0,0,1,418126,0,0,0,912,0,0,0,74622,0,0,1,35190,0,0 -17-43092100-T-C,17,43092100,rs773638815,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1144Arg,p.Gln1144Arg,c.3431A>G,missense_variant,,,,2,1461544,0.0000013684158670556617,0,0,amr,0.000007410000000000001,21.7,0.631,0.0600,0.140,2.24,0.0300,0.178,0,33474,0,0,2,44724,0,0,0,26134,0,0,0,39696,0,0,0,53266,0,0,0,5768,0,0,0,1111838,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092101-G-A,17,43092101,rs80357369,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1144Ter,p.Gln1144Ter,c.3430C>T,stop_gained,Pathogenic,54883,lof_flag,2,833082,0.0000024007240583760064,0,0,nfe,4.4e-7,35.0,,0.00,0.0100,6.83,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761878,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092103-G-A,17,43092103,rs80357434,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1143Phe,p.Ser1143Phe,c.3428C>T,missense_variant,Conflicting interpretations of pathogenicity,54880,,1,628590,0.000001590862088165577,0,0,,,13.8,0.337,0.00,0.00,4.51,0.260,0.100,0,17694,0,0,0,43740,0,0,1,20982,0,0,0,36068,0,0,0,52972,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092107-C-A,17,43092107,rs80357101,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1142Ser,p.Ala1142Ser,c.3424G>T,missense_variant,Conflicting interpretations of pathogenicity,571397,,1,1461644,6.841611226810358e-7,0,0,,,0.408,0.265,0.00,0.00,0.863,0.180,0.125,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53240,0,0,1,5768,0,0,0,1111956,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092107-C-G,17,43092107,rs80357101,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1142Pro,p.Ala1142Pro,c.3424G>C,missense_variant,Conflicting interpretations of pathogenicity,54878,,1,1461644,6.841611226810358e-7,0,0,,,1.79,0.353,0.0500,0.110,0.863,0.0900,0.125,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53240,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43092108-A-G,17,43092108,rs863224419,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1141His,p.His1141His,c.3423T>C,synonymous_variant,Likely benign,215872,,3,628592,0.000004772571079491944,0,0,nfe,9.5e-7,2.20,,0.0300,0.100,-0.197,,,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52976,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092110-GACT-G,17,43092110,rs80358337,GACT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1140del,p.Ser1140del,c.3418_3420del,inframe_deletion,Conflicting interpretations of pathogenicity,54876,,22,1613928,0.000013631339192330761,0,0,nfe,0.00001144,5.58,,0.0800,0.170,-0.0270,,,0,75064,0,0,0,60030,0,0,0,29602,0,0,0,44888,0,0,0,63834,0,0,0,6062,0,0,21,1179956,0,0,0,912,0,0,0,91072,0,0,1,62508,0,0 -17-43092111-A-T,17,43092111,rs2154317544,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1140Arg,p.Ser1140Arg,c.3420T>A,missense_variant,,,,1,628554,0.0000015909532037024663,0,0,,,9.15,0.372,0.0100,0.0600,0.777,0.0800,0.0300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52960,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,1,33096,0,0 -17-43092113-T-C,17,43092113,rs2227945,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1140Gly,p.Ser1140Gly,c.3418A>G,missense_variant,Benign,41817,,3013,1613880,0.001866929387562892,55,0,afr,0.03341849000000001,7.78,0.0690,0.0600,0.120,1.17,0.220,0.00700,2591,75042,55,0,122,60024,0,0,0,29606,0,0,0,44892,0,0,0,63862,0,0,7,6062,0,0,141,1179892,0,0,0,912,0,0,7,91080,0,0,145,62508,0,0 -17-43092115-C-A,17,43092115,rs80357228,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1139Ile,p.Ser1139Ile,c.3416G>T,missense_variant,Benign,54873,,17,1461586,0.000011631200627263808,0,0,nfe,0.0000081,7.30,0.505,0.00,0.00,0.176,0.0300,0.210,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53224,0,0,0,5768,0,0,15,1111916,0,0,,,,,0,86254,0,0,2,60392,0,0 -17-43092119-C-A,17,43092119,rs886040126,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1138Ter,p.Gly1138Ter,c.3412G>T,stop_gained,Pathogenic,266367,lof_flag,1,152196,0.0000065704749139267785,0,0,,,28.0,,0.00,0.00,0.906,,,1,41448,0,0,0,15276,0,0,0,3468,0,0,0,5206,0,0,0,10608,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43092120-C-T,17,43092120,rs786202900,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1137Ile,p.Met1137Ile,c.3411G>A,missense_variant,Conflicting interpretations of pathogenicity,186375,,2,780732,0.0000025616985085791283,0,0,,,7.09,0.335,0.00,0.00,1.71,0.240,0.0580,0,59148,0,0,0,59012,0,0,0,24452,0,0,0,41274,0,0,0,63520,0,0,0,4464,0,0,1,418130,0,0,0,912,0,0,0,74628,0,0,1,35192,0,0 -17-43092121-A-G,17,43092121,rs80357297,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1137Thr,p.Met1137Thr,c.3410T>C,missense_variant,Conflicting interpretations of pathogenicity,54871,,3,628546,0.000004772920359050889,0,0,nfe,9.5e-7,5.52,0.399,0.0900,0.150,0.222,0.140,0.0310,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52930,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,1,33098,0,0 -17-43092122-T-C,17,43092122,rs771479616,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1137Val,p.Met1137Val,c.3409A>G,missense_variant,Conflicting interpretations of pathogenicity,462610,,2,628540,0.000003181977280682216,0,0,eas,0.00000919,0.162,0.479,0.0200,0.0500,-1.32,0.360,0.0130,0,17694,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,52924,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092124-G-C,17,43092124,rs80357329,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1136Arg,p.Pro1136Arg,c.3407C>G,missense_variant,Conflicting interpretations of pathogenicity,54869,,55,780666,0.00007045266477597333,0,0,amr,0.0007200700000000002,15.8,0.447,0.0200,0.0600,2.30,0.0100,0.399,0,59120,0,0,54,59014,0,0,0,24452,0,0,0,41270,0,0,0,63506,0,0,0,4464,0,0,0,418118,0,0,0,912,0,0,1,74618,0,0,0,35192,0,0 -17-43092125-GCTGTT-G,17,43092125,rs1555587781,GCTGTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1134AlafsTer5,p.Glu1134AlafsTer5,c.3401_3405del,frameshift_variant,Pathogenic,462609,lof_flag,1,628476,0.0000015911506565087609,0,0,,,23.9,,0.00,0.0100,1.23,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33098,0,0 -17-43092125-G-A,17,43092125,rs431825395,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1136Ser,p.Pro1136Ser,c.3406C>T,missense_variant,Conflicting interpretations of pathogenicity,823737,,3,628476,0.000004773451969526283,0,0,sas,0.000017510000000000003,9.02,0.382,0.00,0.00,1.23,0.100,0.303,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,3,69794,0,0,0,33098,0,0 -17-43092125-G-T,17,43092125,rs431825395,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1136Thr,p.Pro1136Thr,c.3406C>A,missense_variant,Conflicting interpretations of pathogenicity,96911,,4,628476,0.0000063646026260350435,0,0,,,8.75,0.489,0.00,0.00,1.23,0.110,0.424,0,17694,0,0,1,43740,0,0,3,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43092128-G-T,17,43092128,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1135Lys,p.Gln1135Lys,c.3403C>A,missense_variant,,,,1,628474,0.000001591155720045698,0,0,,,16.4,0.518,0.00,0.00,3.43,0.0400,0.596,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,1,52862,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092128-G-A,17,43092128,rs80357136,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1135Ter,p.Gln1135Ter,c.3403C>T,stop_gained,Pathogenic,54868,lof_flag,1,152298,0.0000065660744067551775,0,0,,,35.0,,0.00,0.0100,3.43,,,0,41560,0,0,0,15298,0,0,0,3470,0,0,0,5190,0,0,0,10606,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,1,4830,0,0,0,2116,0,0 -17-43092128-G-C,17,43092128,rs80357136,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1135Glu,p.Gln1135Glu,c.3403C>G,missense_variant,Conflicting interpretations of pathogenicity,240792,,2,628474,0.000003182311440091396,0,0,,,20.2,0.542,0.180,0.220,3.43,0.0100,0.893,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,52862,0,0,0,4148,0,0,0,350092,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092130-T-A,17,43092130,rs762744684,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1134Val,p.Glu1134Val,c.3401A>T,missense_variant,Conflicting interpretations of pathogenicity,233080,,5,780704,0.000006404475960159036,0,0,amr,0.00003272999999999999,23.0,0.573,0.00,0.00,2.98,0.00,0.980,0,59146,0,0,5,59026,0,0,0,24448,0,0,0,41268,0,0,0,63500,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74618,0,0,0,35192,0,0 -17-43092131-C-A,17,43092131,rs80357018,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1134Ter,p.Glu1134Ter,c.3400G>T,stop_gained,Pathogenic,37529,lof_flag,11,1461398,0.0000075270391775546425,0,0,nfe,0.00000531,35.0,,0.0200,0.00,1.73,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39694,0,0,0,53136,0,0,0,5768,0,0,11,1111828,0,0,,,,,0,86248,0,0,0,60392,0,0 -17-43092135-G-C,17,43092135,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1132Lys,p.Asn1132Lys,c.3396C>G,missense_variant,,,,1,1461200,6.84369011771147e-7,0,0,,,4.02,0.343,0.00,0.00,-0.0350,0.150,0.418,0,33476,0,0,0,44720,0,0,0,26134,0,0,0,39694,0,0,0,53116,0,0,0,5768,0,0,1,1111668,0,0,,,,,0,86246,0,0,0,60378,0,0 -17-43092135-G-A,17,43092135,rs764013144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1132Asn,p.Asn1132Asn,c.3396C>T,synonymous_variant,Likely benign,427334,,5,1461200,0.000003421845058855735,0,0,nfe,0.0000013199999999999999,0.686,,0.00,0.00,-0.0350,,,0,33476,0,0,0,44720,0,0,0,26134,0,0,0,39694,0,0,0,53116,0,0,0,5768,0,0,5,1111668,0,0,,,,,0,86246,0,0,0,60378,0,0 -17-43092137-T-C,17,43092137,rs530464947,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1132Asp,p.Asn1132Asp,c.3394A>G,missense_variant,Conflicting interpretations of pathogenicity,183852,,13,1613748,0.000008055780704298316,0,0,afr,0.00010232999999999998,15.7,0.259,0.0300,0.0300,1.43,0.0700,0.222,13,75062,0,0,0,60026,0,0,0,29604,0,0,0,44886,0,0,0,63736,0,0,0,6062,0,0,0,1179880,0,0,0,912,0,0,0,91074,0,0,0,62506,0,0 -17-43092140-C-T,17,43092140,rs1555587816,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1131Asn,p.Asp1131Asn,c.3391G>A,missense_variant,Conflicting interpretations of pathogenicity,496366,,1,152200,0.00000657030223390276,0,0,,,22.0,0.485,0.00,0.0100,3.57,,,0,41450,0,0,0,15276,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43092141-T-C,17,43092141,rs757237039,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1130Ser,p.Ser1130Ser,c.3390A>G,synonymous_variant,Likely benign,433707,,1,152222,0.000006569352655989279,0,0,,,6.42,,0.00,0.0100,0.118,,,0,41460,0,0,0,15280,0,0,0,3470,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43092146-T-A,17,43092146,rs1597863986,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1129Phe,p.Ile1129Phe,c.3385A>T,missense_variant,,,,1,832964,0.0000012005320758160017,0,0,,,8.74,0.320,0.160,0.170,0.705,0.220,0.222,0,15784,0,0,0,982,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761778,0,0,,,,,0,16456,0,0,0,27286,0,0 -17-43092148-A-C,17,43092148,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1128Arg,p.Leu1128Arg,c.3383T>G,missense_variant,,,,1,1461214,6.843624547807508e-7,0,0,,,16.7,0.573,0.00,0.0100,0.164,0.100,0.665,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52948,0,0,0,5768,0,0,1,1111832,0,0,,,,,0,86252,0,0,0,60386,0,0 -17-43092152-A-G,17,43092152,rs1451089848,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1127His,p.Tyr1127His,c.3379T>C,missense_variant,Conflicting interpretations of pathogenicity,479249,,71,1461228,0.00004858926875203596,0,0,nfe,0.00005161,16.9,0.312,0.00,0.00,-0.356,0.0100,0.00100,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52962,0,0,0,5768,0,0,71,1111840,0,0,,,,,0,86248,0,0,0,60380,0,0 -17-43092153-T-C,17,43092153,rs1057521325,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1126Pro,p.Pro1126Pro,c.3378A>G,synonymous_variant,Likely benign,382315,,7,1613292,0.000004338954138494457,0,0,afr,0.00003470999999999999,3.65,,0.0100,0.0100,-1.67,,,6,74934,0,0,0,60012,0,0,0,29606,0,0,0,44896,0,0,0,63564,0,0,0,6084,0,0,0,1179738,0,0,0,910,0,0,1,91082,0,0,0,62466,0,0 -17-43092153-T-G,17,43092153,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1126Pro,p.Pro1126Pro,c.3378A>C,synonymous_variant,Likely benign,1730779,,2,1461042,0.0000013688860416059223,0,0,nfe,2.999999999999999e-7,3.83,,0.120,0.180,-1.67,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52934,0,0,0,5768,0,0,2,1111692,0,0,,,,,0,86248,0,0,0,60372,0,0 -17-43092154-G-A,17,43092154,rs80356887,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1126Leu,p.Pro1126Leu,c.3377C>T,missense_variant,Conflicting interpretations of pathogenicity,54862,,4,1460950,0.0000027379444881755024,0,0,nfe,7.200000000000001e-7,18.3,0.349,0.100,0.160,3.42,0.0200,0.289,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52910,0,0,0,5768,0,0,3,1111634,0,0,,,,,0,86246,0,0,1,60364,0,0 -17-43092157-G-T,17,43092157,rs1555587835,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1125Tyr,p.Ser1125Tyr,c.3374C>A,missense_variant,Likely benign,433706,,2,1461120,0.0000013688129653964083,0,0,nfe,2.999999999999999e-7,11.7,0.515,0.00,0.00,2.86,0.0900,0.762,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52868,0,0,0,5768,0,0,2,1111828,0,0,,,,,0,86244,0,0,0,60380,0,0 -17-43092159-G-T,17,43092159,rs786203431,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1124Leu,p.Phe1124Leu,c.3372C>A,missense_variant,Conflicting interpretations of pathogenicity,1034479,,1,628184,0.0000015918902741871808,0,0,,,5.09,0.440,0.00,0.00,-0.167,0.170,0.0330,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52584,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43092160-A-C,17,43092160,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1124Cys,p.Phe1124Cys,c.3371T>G,missense_variant,,,,1,1461192,6.843727586792153e-7,0,0,,,22.8,0.495,0.00,0.00,2.34,0.00,0.928,1,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52886,0,0,0,5768,0,0,0,1111874,0,0,,,,,0,86248,0,0,0,60384,0,0 -17-43092164-C-A,17,43092164,rs80356867,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1123Tyr,p.Asp1123Tyr,c.3367G>T,missense_variant,Conflicting interpretations of pathogenicity,54860,,4,628126,0.000006368149065633329,0,0,nfe,9.5e-7,19.6,0.545,0.0700,0.110,1.68,0.00,0.817,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52526,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69790,0,0,2,33092,0,0 -17-43092166-G-A,17,43092166,rs2053599251,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1122Ile,p.Thr1122Ile,c.3365C>T,missense_variant,Conflicting interpretations of pathogenicity,1044703,,1,832930,0.0000012005810812433217,0,0,,,5.51,0.421,0.0100,0.00,1.23,0.270,0.0100,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761736,0,0,,,,,0,16456,0,0,0,27292,0,0 -17-43092169-T-C,17,43092169,rs80356919,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1121Ser,p.Asn1121Ser,c.3362A>G,missense_variant,Conflicting interpretations of pathogenicity,37527,,11,780354,0.000014096166611563469,0,0,afr,0.00003267,1.96,0.241,0.00,0.0100,0.146,0.510,0.0240,5,59158,0,0,2,59030,0,0,0,24452,0,0,0,41266,0,0,0,63136,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74622,0,0,1,35186,0,0 -17-43092170-T-C,17,43092170,rs876660526,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1121Asp,p.Asn1121Asp,c.3361A>G,missense_variant,Conflicting interpretations of pathogenicity,531290,,3,1461066,0.000002053295333681025,0,0,afr,0.00000989,3.90,0.308,0.00,0.00,-0.564,0.100,0.0130,2,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52764,0,0,0,5768,0,0,0,1111870,0,0,,,,,1,86248,0,0,0,60382,0,0 -17-43092170-T-G,17,43092170,rs876660526,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1121His,p.Asn1121His,c.3361A>C,missense_variant,Conflicting interpretations of pathogenicity,233620,,1,1461066,6.844317778936749e-7,0,0,,,1.88,0.311,0.00,0.00,-0.564,0.230,0.0910,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52764,0,0,0,5768,0,0,1,1111870,0,0,,,,,0,86248,0,0,0,60382,0,0 -17-43092171-AAC-A,17,43092171,rs80357945,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1120Ter,p.Val1120Ter,c.3358_3359del,frameshift_variant,Pathogenic,37526,lof_flag,1,1461032,6.844477054575123e-7,0,0,,,24.2,,0.0900,0.0900,-0.0320,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52732,0,0,0,5768,0,0,1,1111862,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43092172-A-T,17,43092172,rs1361427704,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1120Asp,p.Val1120Asp,c.3359T>A,missense_variant,Conflicting interpretations of pathogenicity,489715,,5,1613232,0.000003099368224781061,0,0,nfe,0.0000012399999999999998,22.4,0.594,0.00,0.00,1.03,0.00,0.826,0,74924,0,0,0,59986,0,0,0,29606,0,0,0,44896,0,0,0,63368,0,0,0,6084,0,0,5,1179898,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 -17-43092173-C-G,17,43092173,rs748894760,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1120Leu,p.Val1120Leu,c.3358G>C,missense_variant,Conflicting interpretations of pathogenicity,811966,,1,1461038,6.844448946570863e-7,0,0,,,17.3,0.560,0.00,0.00,2.94,0.0100,0.770,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52726,0,0,0,5768,0,0,0,1111876,0,0,,,,,1,86248,0,0,0,60390,0,0 -17-43092173-C-T,17,43092173,rs748894760,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1120Ile,p.Val1120Ile,c.3358G>A,missense_variant,Conflicting interpretations of pathogenicity,184039,,14,1613232,0.00000867823102938697,0,0,nfe,0.00000615,13.4,0.464,0.0300,0.0500,2.94,0.160,0.574,0,74924,0,0,0,59996,0,0,0,29604,0,0,1,44898,0,0,0,63344,0,0,0,6084,0,0,13,1179910,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 -17-43092175-G-A,17,43092175,rs863224759,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1119Ile,p.Thr1119Ile,c.3356C>T,missense_variant,,,,2,628000,0.0000031847133757961785,0,0,sas,0.00000476,12.5,0.575,0.0300,0.0600,0.537,0.0500,0.0650,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,52404,0,0,0,4148,0,0,0,350082,0,0,,,,,2,69792,0,0,0,33094,0,0 -17-43092176-T-A,17,43092176,rs80356949,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1119Ser,p.Thr1119Ser,c.3355A>T,missense_variant,Conflicting interpretations of pathogenicity,54855,,20,1613288,0.000012397042561526523,0,0,nfe,0.0000103,0.824,0.407,0.0200,0.0200,0.149,0.130,0.00300,0,74942,0,0,0,59998,0,0,0,29606,0,0,0,44896,0,0,0,63332,0,0,0,6084,0,0,19,1179960,0,0,0,912,0,0,0,91078,0,0,1,62480,0,0 -17-43092177-C-A,17,43092177,rs80357334,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118His,p.Gln1118His,c.3354G>T,missense_variant,Conflicting interpretations of pathogenicity,37525,,4,1461038,0.0000027377795786283452,0,0,nfe,8.4e-7,15.0,0.567,0.0300,0.0400,1.09,0.0100,0.940,0,33472,0,0,0,44720,0,0,0,26134,0,0,0,39696,0,0,0,52686,0,0,0,5768,0,0,4,1111924,0,0,,,,,0,86248,0,0,0,60390,0,0 -17-43092177-CT-C,17,43092177,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118ArgfsTer11,p.Gln1118ArgfsTer11,c.3353del,frameshift_variant,,,lof_flag,1,1461040,6.844439577287412e-7,0,0,,,20.6,,0.120,0.120,1.09,,,0,33472,0,0,0,44720,0,0,0,26134,0,0,0,39696,0,0,0,52686,0,0,0,5768,0,0,1,1111924,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43092179-G-C,17,43092179,rs397507215,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118Glu,p.Gln1118Glu,c.3352C>G,missense_variant,,,,1,1460950,6.844861220438756e-7,0,0,,,6.82,0.557,0.00,0.00,0.909,0.0800,0.0740,0,33474,0,0,0,44722,0,0,0,26134,0,0,0,39692,0,0,0,52630,0,0,0,5768,0,0,1,1111894,0,0,,,,,0,86248,0,0,0,60388,0,0 -17-43092180-AACT-A,17,43092180,rs2053603077,AACT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1117del,p.Val1117del,c.3348_3350del,inframe_deletion,Uncertain significance,1730472,,1,152146,0.0000065726341803267915,0,0,,,2.59,,0.0100,0.0100,1.05,,,1,41438,0,0,0,15252,0,0,0,3468,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2082,0,0 -17-43092181-A-C,17,43092181,rs2053602865,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1117Gly,p.Val1117Gly,c.3350T>G,missense_variant,,,,2,627994,0.000003184743803284745,0,0,nfe,9.5e-7,13.9,0.518,0.00,0.00,0.793,0.110,0.175,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36064,0,0,0,52400,0,0,0,4148,0,0,2,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092184-A-ACTT,17,43092184,rs80358336,A,ACTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1115dup,p.Glu1115dup,c.3344_3346dup,inframe_insertion,Uncertain significance,142922,,2,1460918,0.000001369002230104633,0,0,nfe,2.999999999999999e-7,0.255,,0.00,0.00,-1.19,,,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39694,0,0,0,52616,0,0,0,5768,0,0,2,1111876,0,0,,,,,0,86250,0,0,0,60388,0,0 -17-43092184-ACTT-A,17,43092184,rs80358336,ACTT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1115del,p.Glu1115del,c.3344_3346del,inframe_deletion,Benign,54852,,11,1613056,0.000006819354070782415,0,0,nfe,0.0000035900000000000004,0.317,,0.0600,0.0500,-1.19,,,1,74916,0,0,0,59982,0,0,0,29604,0,0,0,44886,0,0,0,63222,0,0,0,6084,0,0,9,1179906,0,0,0,912,0,0,0,91068,0,0,1,62476,0,0 -17-43092185-C-G,17,43092185,rs55909400,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1116Leu,p.Val1116Leu,c.3346G>C,missense_variant,Conflicting interpretations of pathogenicity,54853,,14,1612984,0.000008679565327368405,0,0,afr,0.00009217999999999997,0.00100,0.426,0.00,0.00,-1.09,0.140,0.00500,12,74884,0,0,2,59976,0,0,0,29600,0,0,0,44884,0,0,0,63198,0,0,0,6084,0,0,0,1179896,0,0,0,912,0,0,0,91076,0,0,0,62474,0,0 -17-43092186-T-G,17,43092186,rs876658243,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1115Asp,p.Glu1115Asp,c.3345A>C,missense_variant,Conflicting interpretations of pathogenicity,229872,,1,152162,0.000006571943060685322,0,0,,,0.571,0.368,0.00,0.00,-1.22,,,1,41444,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10604,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4818,0,0,0,2086,0,0 -17-43092190-T-C,17,43092190,rs2154327006,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1114Gly,p.Glu1114Gly,c.3341A>G,missense_variant,Conflicting interpretations of pathogenicity,1352647,,1,1460980,6.844720666949582e-7,0,0,,,13.6,0.355,0.00,0.0200,0.847,0.170,0.00300,0,33472,0,0,0,44720,0,0,0,26130,0,0,0,39694,0,0,0,52624,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86250,0,0,0,60388,0,0 -17-43092191-CAT-C,17,43092191,rs2053605677,CAT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1113Ter,p.Tyr1113Ter,c.3338_3339del,frameshift_variant,,,lof_flag,1,152132,0.00000657323902926406,0,0,,,20.8,,0.00,0.100,2.42,,,0,41436,0,0,0,15264,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,314,0,0,0,68018,0,0,0,912,0,0,1,4824,0,0,0,2092,0,0 -17-43092191-C-T,17,43092191,rs80357278,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1114Lys,p.Glu1114Lys,c.3340G>A,missense_variant,Conflicting interpretations of pathogenicity,949517,,1,1460924,6.844983038132031e-7,0,0,,,16.5,0.418,0.00,0.0300,2.42,0.0500,0.00,0,33470,0,0,0,44722,0,0,0,26130,0,0,1,39694,0,0,0,52560,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86252,0,0,0,60386,0,0 -17-43092193-T-C,17,43092193,rs1225577943,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1113Cys,p.Tyr1113Cys,c.3338A>G,missense_variant,Conflicting interpretations of pathogenicity,644849,,4,1460968,0.000002737910755061028,0,0,sas,0.00000385,14.5,0.360,0.00,0.0300,0.144,0.0400,0.00700,0,33472,0,0,0,44722,0,0,0,26130,0,0,0,39694,0,0,0,52614,0,0,0,5768,0,0,1,1111930,0,0,,,,,2,86250,0,0,1,60388,0,0 -17-43092196-TCTTG-T,17,43092196,rs80357701,TCTTG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1111AsnfsTer5,p.Gln1111AsnfsTer5,c.3331_3334del,frameshift_variant,Pathogenic,37523,lof_flag,18,1613164,0.000011158195942879955,0,0,nfe,0.000006880000000000001,23.6,,0.00,0.110,0.231,,,1,74906,0,0,1,59998,0,0,0,29600,0,0,0,44892,0,0,0,63236,0,0,0,6084,0,0,14,1179986,0,0,0,912,0,0,0,91072,0,0,2,62478,0,0 -17-43092198-T-C,17,43092198,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Gln,p.Gln1111Gln,c.3333A>G,synonymous_variant,,,,1,1460988,6.844683186994006e-7,0,0,,,0.958,,0.00,0.0200,0.536,,,0,33472,0,0,0,44722,0,0,0,26130,0,0,0,39692,0,0,0,52638,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86250,0,0,0,60382,0,0 -17-43092200-G-A,17,43092200,rs80357089,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Ter,p.Gln1111Ter,c.3331C>T,stop_gained,Pathogenic,54845,lof_flag,1,1460900,6.845095489082072e-7,0,0,,,35.0,,0.00,0.130,4.10,,,0,33468,0,0,0,44724,0,0,0,26128,0,0,1,39688,0,0,0,52580,0,0,0,5768,0,0,0,1111916,0,0,,,,,0,86248,0,0,0,60380,0,0 -17-43092200-GCTT-G,17,43092200,rs80358335,GCTT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1110del,p.Lys1110del,c.3328_3330del,inframe_deletion,Conflicting interpretations of pathogenicity,54840,,264,1612992,0.00016367099154862517,1,0,sas,0.0025690000000000005,2.23,,0.00,0.0100,4.10,,,0,74892,0,0,1,59992,0,0,0,29596,0,0,0,44884,0,0,0,63164,0,0,1,6084,0,0,0,1179920,0,0,0,912,0,0,260,91080,1,0,2,62468,0,0 -17-43092200-G-T,17,43092200,rs80357089,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Lys,p.Gln1111Lys,c.3331C>A,missense_variant,,,,1,1460900,6.845095489082072e-7,0,0,,,13.0,0.349,0.00,0.0400,4.10,0.100,0.342,0,33468,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,1,52580,0,0,0,5768,0,0,0,1111916,0,0,,,,,0,86248,0,0,0,60380,0,0 -17-43092201-CTTT-C,17,43092201,rs80357575,CTTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1110del,p.Lys1110del,c.3327_3329del,inframe_deletion,Conflicting interpretations of pathogenicity,125625,,14,1612574,0.000008681772123325814,0,0,nfe,0.000005,4.97,,0.00,0.0100,-0.644,,,0,74894,0,0,1,59986,0,0,0,29600,0,0,1,44878,0,0,0,63230,0,0,0,6082,0,0,11,1179960,0,0,0,912,0,0,1,90564,0,0,0,62468,0,0 -17-43092204-T-G,17,43092204,rs41293449,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1109Asn,p.Lys1109Asn,c.3327A>C,missense_variant,Benign,37522,,94,1613220,0.000058268556055590684,0,0,nfe,0.000060480000000000004,20.3,0.363,0.00,0.00,1.01,0.0100,0.665,0,74932,0,0,0,59990,0,0,0,29600,0,0,0,44886,0,0,0,63320,0,0,0,6084,0,0,87,1179956,0,0,0,912,0,0,0,91066,0,0,7,62474,0,0 -17-43092207-T-C,17,43092207,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1108Met,p.Ile1108Met,c.3324A>G,missense_variant,Conflicting interpretations of pathogenicity,1730229,,1,833076,0.0000012003706744642745,0,0,,,1.48,0.373,0.00,0.00,-0.631,0.170,0.0270,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761878,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43092210-T-A,17,43092210,rs2154329127,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Asp,p.Glu1107Asp,c.3321A>T,missense_variant,Uncertain significance,2450677,,1,628028,0.0000015922856942684084,0,0,,,13.0,0.446,0.00,0.0100,1.43,0.0300,0.120,0,17690,0,0,0,43740,0,0,0,20974,0,0,0,36056,0,0,1,52464,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33086,0,0 -17-43092211-T-C,17,43092211,rs1597864403,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Gly,p.Glu1107Gly,c.3320A>G,missense_variant,Conflicting interpretations of pathogenicity,823606,,3,1461108,0.000002053236311073514,0,0,nfe,7.200000000000001e-7,17.0,0.368,0.00,0.00,3.73,0.0300,0.120,0,33474,0,0,0,44722,0,0,0,26126,0,0,0,39688,0,0,0,52760,0,0,0,5768,0,0,3,1111936,0,0,,,,,0,86252,0,0,0,60382,0,0 -17-43092212-C-A,17,43092212,rs80357106,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Ter,p.Glu1107Ter,c.3319G>T,stop_gained,Pathogenic,54836,lof_flag,1,833050,0.0000012004081387671809,0,0,,,32.0,,0.00,0.0800,2.96,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761852,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43092213-A-T,17,43092213,rs2053609439,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Pro,p.Pro1106Pro,c.3318T>A,synonymous_variant,,,,1,628064,0.0000015921944260457532,0,0,,,0.813,,0.00,0.00,-1.10,,,0,17692,0,0,0,43738,0,0,0,20974,0,0,0,36056,0,0,0,52492,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33090,0,0 -17-43092215-G-T,17,43092215,rs45599040,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Thr,p.Pro1106Thr,c.3316C>A,missense_variant,,,,1,628042,0.0000015922501998274,0,0,,,7.15,0.348,0.00,0.0500,0.400,0.180,0.0860,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52466,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33090,0,0 -17-43092215-G-C,17,43092215,rs45599040,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Ala,p.Pro1106Ala,c.3316C>G,missense_variant,Conflicting interpretations of pathogenicity,1703930,,1,628042,0.0000015922501998274,0,0,,,5.01,0.348,0.00,0.0400,0.400,0.300,0.133,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52466,0,0,1,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43092222-A-G,17,43092222,rs80357317,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1103Cys,p.Cys1103Cys,c.3309T>C,synonymous_variant,Uncertain significance,499284,,1,628190,0.0000015918750696445343,0,0,,,4.68,,0.00,0.00,0.830,,,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52614,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33090,0,0 -17-43092223-C-T,17,43092223,rs80357135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1103Tyr,p.Cys1103Tyr,c.3308G>A,missense_variant,Conflicting interpretations of pathogenicity,419152,,34,1461200,0.000023268546400218997,0,0,nfe,0.00002201,6.57,0.505,0.00,0.00,0.400,0.230,0.119,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39684,0,0,0,52876,0,0,0,5766,0,0,34,1111920,0,0,,,,,0,86252,0,0,0,60380,0,0 -17-43092225-A-C,17,43092225,rs876658664,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1102Lys,p.Asn1102Lys,c.3306T>G,missense_variant,Uncertain significance,2565352,,1,1461274,6.843343548164136e-7,0,0,,,2.81,0.398,0.00,0.0300,-0.148,0.110,0.311,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39686,0,0,0,52906,0,0,0,5768,0,0,1,1111946,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092225-A-G,17,43092225,rs876658664,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1102Asn,p.Asn1102Asn,c.3306T>C,synonymous_variant,Likely benign,230607,,5,1613396,0.0000030990531772732795,0,0,afr,0.00001063,0.468,,0.00,0.00,-0.148,,,3,74912,0,0,0,59980,0,0,0,29592,0,0,0,44878,0,0,0,63514,0,0,0,6084,0,0,2,1179964,0,0,0,912,0,0,0,91082,0,0,0,62478,0,0 -17-43092226-T-C,17,43092226,rs80356900,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1102Ser,p.Asn1102Ser,c.3305A>G,missense_variant,Conflicting interpretations of pathogenicity,54831,,9,1613422,0.0000055782058258781644,0,0,nfe,6.800000000000001e-7,4.56,0.150,0.00,0.0200,0.112,0.170,0.156,0,74922,0,0,0,59986,0,0,6,29592,0,0,0,44886,0,0,0,63530,0,0,0,6084,0,0,3,1179958,0,0,0,912,0,0,0,91082,0,0,0,62470,0,0 -17-43092227-T-G,17,43092227,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1102His,p.Asn1102His,c.3304A>C,missense_variant,,,,1,628190,0.0000015918750696445343,0,0,,,8.59,0.376,0.00,0.00,-0.0120,0.0700,0.927,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36054,0,0,0,52624,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43092229-C-T,17,43092229,rs41293447,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1101Asn,p.Ser1101Asn,c.3302G>A,missense_variant,Benign,54830,,407,1613344,0.00025227105936489677,1,0,nfe,0.00023064,4.91,0.412,0.00,0.0100,0.342,0.200,0.263,4,74910,0,0,3,59980,0,0,0,29596,0,0,0,44874,0,0,1,63490,0,0,3,6084,0,0,301,1179942,0,0,62,912,0,0,9,91084,0,0,24,62472,1,0 -17-43092232-C-A,17,43092232,rs2154330690,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1100Val,p.Gly1100Val,c.3299G>T,missense_variant,,,,1,628204,0.0000015918395935078415,0,0,,,0.601,0.328,0.0100,0.0600,0.254,1.00,0.00,0,17692,0,0,0,43738,0,0,0,20976,0,0,1,36054,0,0,0,52636,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43092234-AG-A,17,43092234,rs80357815,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1099LeufsTer10,p.Pro1099LeufsTer10,c.3296del,frameshift_variant,Pathogenic,54824,lof_flag,1,1461328,6.843090668214118e-7,0,0,,,24.9,,0.00,0.0700,0.243,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39686,0,0,0,52972,0,0,0,5768,0,0,1,1111932,0,0,,,,,0,86254,0,0,0,60386,0,0 -17-43092235-G-A,17,43092235,rs80357201,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1099Leu,p.Pro1099Leu,c.3296C>T,missense_variant,Benign,41816,,425,1613482,0.00026340547957770836,0,0,sas,0.0006333500000000001,22.8,0.338,0.00,0.0100,2.79,0.0200,0.677,2,74986,0,0,18,59986,0,0,0,29598,0,0,1,44864,0,0,36,63546,0,0,2,6062,0,0,285,1179954,0,0,0,912,0,0,71,91076,0,0,10,62498,0,0 -17-43092239-G-A,17,43092239,rs879255291,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098Phe,p.Leu1098Phe,c.3292C>T,missense_variant,Conflicting interpretations of pathogenicity,252394,,1,628282,0.0000015916419696887704,0,0,,,8.61,0.331,0.00,0.0200,3.08,0.230,0.410,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,52698,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43092239-G-C,17,43092239,rs879255291,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098Val,p.Leu1098Val,c.3292C>G,missense_variant,,,,1,628282,0.0000015916419696887704,0,0,,,8.06,0.328,0.00,0.0100,3.08,0.120,0.418,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,52698,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33090,0,0 -17-43092241-CTT-C,17,43092241,rs80357686,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098SerfsTer4,p.Leu1098SerfsTer4,c.3288_3289del,frameshift_variant,Pathogenic,54821,lof_flag,1,1461394,6.842781618098884e-7,0,0,,,23.7,,0.00,0.0700,0.761,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39686,0,0,0,53030,0,0,0,5768,0,0,1,1111932,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43092244-TG-T,17,43092244,rs80357533,TG,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1096LysfsTer13,p.Gln1096LysfsTer13,c.3286del,frameshift_variant,Pathogenic,54819,lof_flag,1,152180,0.000006571165724799579,0,0,,,24.8,,0.00,0.0600,1.48,,,1,41438,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10620,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43092244-T-C,17,43092244,rs273899704,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1096Arg,p.Gln1096Arg,c.3287A>G,missense_variant,Conflicting interpretations of pathogenicity,54820,,2,1461430,0.0000013685226114148472,0,0,eas,0.00000835,21.4,0.573,0.00,0.0100,1.48,0.0200,0.410,0,33478,0,0,0,44724,0,0,0,26134,0,0,2,39684,0,0,0,53048,0,0,0,5768,0,0,0,1111952,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092245-G-T,17,43092245,rs80357485,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1096Lys,p.Gln1096Lys,c.3286C>A,missense_variant,Conflicting interpretations of pathogenicity,482959,,1,628342,0.000001591489984753526,0,0,,,22.2,0.537,0.00,0.0100,4.14,0.0200,0.540,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36054,0,0,0,52754,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092248-T-C,17,43092248,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1095Glu,p.Lys1095Glu,c.3283A>G,missense_variant,Conflicting interpretations of pathogenicity,1729764,,1,628394,0.0000015913582879530996,0,0,,,2.51,0.471,0.00,0.0100,0.173,0.290,0.188,0,17692,0,0,0,43740,0,0,0,20982,0,0,1,36054,0,0,0,52802,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092250-T-C,17,43092250,rs1597864637,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1094Cys,p.Tyr1094Cys,c.3281A>G,missense_variant,Conflicting interpretations of pathogenicity,639392,,1,1461470,6.842425776786386e-7,0,0,,,0.00600,0.322,0.00,0.0200,-1.48,0.610,0.00,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39684,0,0,0,53080,0,0,0,5768,0,0,1,1111960,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092251-A-G,17,43092251,rs1555588026,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1094His,p.Tyr1094His,c.3280T>C,missense_variant,Conflicting interpretations of pathogenicity,438923,,1,628400,0.000001591343093570974,0,0,,,16.8,0.447,0.00,0.00,0.952,0.280,0.642,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36054,0,0,0,52810,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092255-C-A,17,43092255,rs764458412,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Asp,p.Glu1092Asp,c.3276G>T,missense_variant,Conflicting interpretations of pathogenicity,489714,,2,1461498,0.000001368458937336897,0,0,sas,0.00000385,4.51,0.537,0.00,0.0100,0.759,0.110,0.443,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53106,0,0,0,5768,0,0,0,1111966,0,0,,,,,2,86254,0,0,0,60386,0,0 -17-43092255-C-T,17,43092255,rs764458412,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Glu,p.Glu1092Glu,c.3276G>A,synonymous_variant,,,,2,1461498,0.000001368458937336897,0,0,nfe,2.999999999999999e-7,0.734,,0.00,0.0100,0.759,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53106,0,0,0,5768,0,0,2,1111966,0,0,,,,,0,86254,0,0,0,60386,0,0 -17-43092256-T-C,17,43092256,rs751368643,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Gly,p.Glu1092Gly,c.3275A>G,missense_variant,Conflicting interpretations of pathogenicity,922736,,1,628422,0.0000015912873833188526,0,0,,,13.9,0.234,0.00,0.0400,0.513,0.200,0.225,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,52836,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092261-T-A,17,43092261,rs369925993,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1090His,p.Gln1090His,c.3270A>T,missense_variant,Conflicting interpretations of pathogenicity,182153,,11,1613676,0.000006816733966422008,0,0,nfe,0.000005,15.2,0.628,0.00,0.00,-0.307,0.0300,0.901,0,74916,0,0,0,59990,0,0,0,29604,0,0,0,44872,0,0,0,63746,0,0,0,6084,0,0,11,1179996,0,0,0,910,0,0,0,91076,0,0,0,62482,0,0 -17-43092261-T-C,17,43092261,rs369925993,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1090Gln,p.Gln1090Gln,c.3270A>G,synonymous_variant,Likely benign,187419,,23,1613676,0.000014253171020700562,0,0,nfe,0.00001298,1.98,,0.00,0.0100,-0.307,,,0,74916,0,0,0,59990,0,0,0,29604,0,0,0,44872,0,0,0,63746,0,0,0,6084,0,0,23,1179996,0,0,0,910,0,0,0,91076,0,0,0,62482,0,0 -17-43092262-T-C,17,43092262,rs1555588045,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1090Arg,p.Gln1090Arg,c.3269A>G,missense_variant,Conflicting interpretations of pathogenicity,462606,,1,628454,0.0000015912063571876383,0,0,,,23.3,0.734,0.00,0.00,6.36,0.0100,0.878,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36054,0,0,0,52866,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092264-C-A,17,43092264,rs767544239,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1089Phe,p.Leu1089Phe,c.3267G>T,missense_variant,Conflicting interpretations of pathogenicity,485399,,7,1613626,0.000004338056030331688,0,0,nfe,0.00000247,20.3,0.516,0.00,0.00,3.04,0.00,0.174,0,74884,0,0,0,59986,0,0,0,29604,0,0,0,44866,0,0,0,63732,0,0,0,6084,0,0,7,1180002,0,0,0,912,0,0,0,91076,0,0,0,62480,0,0 -17-43092264-C-T,17,43092264,rs767544239,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1089Leu,p.Leu1089Leu,c.3267G>A,synonymous_variant,Likely benign,496364,,2,1461544,0.0000013684158670556617,0,0,,,5.40,,0.00,0.00,3.04,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,2,53136,0,0,0,5768,0,0,0,1111982,0,0,,,,,0,86252,0,0,0,60388,0,0 -17-43092269-C-A,17,43092269,rs2154333487,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1088Phe,p.Val1088Phe,c.3262G>T,missense_variant,Uncertain significance,2565334,,2,1461570,0.0000013683915241828993,0,0,nfe,2.999999999999999e-7,14.2,0.408,0.00,0.00,1.18,0.0200,0.00,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53162,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092270-C-A,17,43092270,rs1454692887,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1087Gly,p.Gly1087Gly,c.3261G>T,synonymous_variant,,,,1,152004,0.0000065787742427830845,0,0,,,2.98,,0.00,0.00,1.50,,,0,41372,0,0,0,15238,0,0,0,3470,0,0,0,5190,0,0,0,10582,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4822,0,0,0,2082,0,0 -17-43092271-C-G,17,43092271,rs80357172,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1087Ala,p.Gly1087Ala,c.3260G>C,missense_variant,Conflicting interpretations of pathogenicity,54812,,29,1613632,0.000017971879585927895,0,0,nfe,0.00001567,7.22,0.374,0.00,0.0100,3.38,0.0600,0.424,1,74866,0,0,0,59978,0,0,0,29606,0,0,0,44872,0,0,0,63760,0,0,0,6084,0,0,27,1179998,0,0,0,912,0,0,0,91074,0,0,1,62482,0,0 -17-43092274-A-G,17,43092274,rs80357006,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1086Ser,p.Leu1086Ser,c.3257T>C,missense_variant,Conflicting interpretations of pathogenicity,54809,,7,628504,0.000011137558392627572,0,0,nfe,9.5e-7,16.5,0.554,0.00,0.00,-0.237,0.150,0.780,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,5,52906,0,0,0,4148,0,0,2,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092278-T-C,17,43092278,rs1432504119,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1085Gly,p.Arg1085Gly,c.3253A>G,missense_variant,,,,1,628520,0.0000015910392668491059,0,0,,,17.0,0.507,0.00,0.0100,0.0320,0.0500,0.0620,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,0,52924,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092281-G-T,17,43092281,rs879254009,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1084Ile,p.Leu1084Ile,c.3250C>A,missense_variant,Conflicting interpretations of pathogenicity,245941,,7,1613638,0.000004338023769891389,0,0,nfe,0.00000183,21.5,0.381,0.00,0.0100,3.42,0.0300,0.926,0,74866,0,0,0,59976,0,0,0,29602,0,0,0,44872,0,0,0,63768,0,0,0,6084,0,0,6,1179998,0,0,0,912,0,0,0,91074,0,0,1,62486,0,0 -17-43092282-C-T,17,43092282,rs1367761716,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1083Ile,p.Met1083Ile,c.3249G>A,missense_variant,Conflicting interpretations of pathogenicity,1407672,,3,1461608,0.0000020525339215439433,0,0,nfe,2.999999999999999e-7,7.05,0.185,0.00,0.0100,0.818,0.180,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53186,0,0,0,5768,0,0,2,1111990,0,0,,,,,0,86252,0,0,1,60392,0,0 -17-43092283-A-G,17,43092283,rs786203958,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1083Thr,p.Met1083Thr,c.3248T>C,missense_variant,Conflicting interpretations of pathogenicity,187732,,1,1461624,6.841704843379692e-7,0,0,,,15.0,0.321,0.00,0.00,1.80,0.0300,0.0170,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53198,0,0,0,5768,0,0,1,1111992,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092284-T-G,17,43092284,rs397507213,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1083Leu,p.Met1083Leu,c.3247A>C,missense_variant,Conflicting interpretations of pathogenicity,37517,,9,1613778,0.0000055769752716916455,0,0,nfe,0.00000292,0.0750,0.313,0.00,0.00,-0.889,0.120,0.00,0,74914,0,0,0,59994,0,0,0,29604,0,0,0,44868,0,0,0,63824,0,0,0,6084,0,0,8,1180014,0,0,0,912,0,0,0,91082,0,0,1,62482,0,0 -17-43092284-T-C,17,43092284,rs397507213,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1083Val,p.Met1083Val,c.3247A>G,missense_variant,Conflicting interpretations of pathogenicity,185061,,21,1613778,0.00001301294230061384,0,0,amr,0.00001327,0.00100,0.164,0.00,0.00,-0.889,1.00,0.00,0,74914,0,0,3,59994,0,0,0,29604,0,0,0,44868,0,0,0,63824,0,0,2,6084,0,0,16,1180014,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 -17-43092285-A-G,17,43092285,rs1241537585,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ala,p.Ala1082Ala,c.3246T>C,synonymous_variant,Likely benign,1084557,,3,1461644,0.0000020524833680431077,0,0,,,3.99,,0.00,0.00,-0.00600,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53216,0,0,0,5768,0,0,1,1111996,0,0,,,,,1,86254,0,0,0,60390,0,0 -17-43092285-A-T,17,43092285,rs1241537585,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ala,p.Ala1082Ala,c.3246T>A,synonymous_variant,Likely benign,823292,,1,1461644,6.841611226810358e-7,0,0,,,3.49,,0.00,0.00,-0.00600,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53216,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092287-C-T,17,43092287,rs779459487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Thr,p.Ala1082Thr,c.3244G>A,missense_variant,Conflicting interpretations of pathogenicity,565971,,2,1461662,0.00000136830539481768,0,0,,,7.74,0.349,0.00,0.0100,0.815,0.450,0.474,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,1,53232,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092287-C-A,17,43092287,rs779459487,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ser,p.Ala1082Ser,c.3244G>T,missense_variant,Conflicting interpretations of pathogenicity,801070,,1,1461662,6.8415269740884e-7,0,0,,,8.24,0.373,0.00,0.00,0.815,0.140,0.574,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53232,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092289-T-C,17,43092289,rs753440254,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1081Ser,p.Asn1081Ser,c.3242A>G,missense_variant,Conflicting interpretations of pathogenicity,662436,,1,628552,0.0000015909582659827668,0,0,,,5.26,0.280,0.00,0.0100,-0.462,0.150,0.208,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36050,0,0,0,52956,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092290-T-C,17,43092290,rs876659928,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1081Asp,p.Asn1081Asp,c.3241A>G,missense_variant,Conflicting interpretations of pathogenicity,232694,,1,833110,0.0000012003216862119048,0,0,,,12.3,0.381,0.00,0.00,1.43,0.170,0.391,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092293-A-G,17,43092293,rs754597283,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1080Leu,p.Leu1080Leu,c.3238T>C,synonymous_variant,Likely benign,184374,,20,1613774,0.00001239330910028294,0,0,sas,0.000021040000000000002,1.60,,0.00,0.00,-0.156,,,2,74894,0,0,3,59978,0,0,0,29606,0,0,0,44866,0,0,0,63842,0,0,0,6084,0,0,6,1180026,0,0,0,912,0,0,5,91080,0,0,4,62486,0,0 -17-43092297-T-C,17,43092297,rs876660522,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro1078Pro,p.Pro1078Pro,c.3234A>G,synonymous_variant,Likely benign,233614,,1,152196,0.0000065704749139267785,0,0,,,1.61,,0.00,0.00,-1.75,,,0,41450,0,0,0,15276,0,0,0,3470,0,0,0,5192,0,0,0,10616,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43092298-G-A,17,43092298,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1078Leu,p.Pro1078Leu,c.3233C>T,missense_variant,,,,1,628548,0.0000015909683906400147,0,0,,,22.1,0.403,0.00,0.0200,3.43,0.00,0.992,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,0,52952,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69792,0,0,0,33094,0,0 -17-43092301-C-T,17,43092301,rs1567792424,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1077Glu,p.Gly1077Glu,c.3230G>A,missense_variant,Conflicting interpretations of pathogenicity,579547,,1,1461648,6.841592503803926e-7,0,0,,,3.57,0.553,0.00,0.00,0.677,0.260,0.157,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53224,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092301-CCT-C,17,43092301,rs80357635,CCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1077AlafsTer8,p.Gly1077AlafsTer8,c.3228_3229del,frameshift_variant,Pathogenic,37516,lof_flag,10,1461648,0.000006841592503803925,0,0,nfe,0.0000031,23.9,,0.00,0.0700,0.677,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39682,0,0,0,53224,0,0,0,5768,0,0,8,1111990,0,0,,,,,1,86254,0,0,0,60392,0,0 -17-43092303-T-C,17,43092303,rs397509048,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1076Arg,p.Arg1076Arg,c.3228A>G,synonymous_variant,,,,1,833104,0.0000012003303309070656,0,0,,,6.54,,0.00,0.0200,1.40,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092306-G-A,17,43092306,rs778607600,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1075Asn,p.Asn1075Asn,c.3225C>T,synonymous_variant,,,,1,628530,0.0000015910139531923694,0,0,,,3.37,,0.00,0.0100,1.61,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36050,0,0,0,52950,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092310-C-G,17,43092310,rs786202155,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1074Thr,p.Arg1074Thr,c.3221G>C,missense_variant,Conflicting interpretations of pathogenicity,185414,,9,985246,0.000009134774462418523,0,0,nfe,0.0000051,17.6,0.432,0.00,0.0300,2.87,0.0100,0.688,0,57204,0,0,0,16254,0,0,0,8624,0,0,0,8824,0,0,0,10878,0,0,0,1936,0,0,9,829936,0,0,0,912,0,0,0,21290,0,0,0,29388,0,0 -17-43092311-T-C,17,43092311,rs80357263,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1074Gly,p.Arg1074Gly,c.3220A>G,missense_variant,Conflicting interpretations of pathogenicity,54800,,4,780814,0.00000512285896513126,0,0,afr,0.00001344,17.0,0.462,0.00,0.00,1.36,0.0300,0.414,3,59256,0,0,0,59018,0,0,0,24450,0,0,1,41236,0,0,0,63576,0,0,0,4442,0,0,0,418090,0,0,0,912,0,0,0,74624,0,0,0,35210,0,0 -17-43092313-C-T,17,43092313,rs757632961,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1073Asp,p.Gly1073Asp,c.3218G>A,missense_variant,Conflicting interpretations of pathogenicity,630123,,3,1461618,0.0000020525198786550247,0,0,nfe,2.999999999999999e-7,1.04,0.502,0.00,0.00,-0.0870,0.180,0.0560,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39680,0,0,1,53218,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092315-T-C,17,43092315,rs1248616066,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1072Leu,p.Leu1072Leu,c.3216A>G,synonymous_variant,,,,3,1461626,0.000002052508644482241,0,0,,,0.890,,0.00,0.00,-0.365,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39680,0,0,0,53226,0,0,0,5768,0,0,1,1111970,0,0,,,,,1,86254,0,0,1,60392,0,0 -17-43092318-T-C,17,43092318,rs528254652,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1071Glu,p.Glu1071Glu,c.3213A>G,synonymous_variant,Likely benign,382207,,1,152290,0.000006566419331538512,0,0,,,0.811,,0.00,0.0100,-2.91,,,0,41554,0,0,1,15278,0,0,0,3470,0,0,0,5186,0,0,0,10624,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 -17-43092320-C-T,17,43092320,rs41293445,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1071Lys,p.Glu1071Lys,c.3211G>A,missense_variant,Conflicting interpretations of pathogenicity,184828,,5,1613784,0.0000030983080759258983,0,0,nfe,0.0000012399999999999998,16.7,0.407,0.00,0.0100,2.43,0.0300,0.443,0,74884,0,0,0,59982,0,0,0,29602,0,0,0,44872,0,0,0,63856,0,0,0,6084,0,0,5,1180032,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 -17-43092322-G-C,17,43092322,rs397507212,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1070Gly,p.Ala1070Gly,c.3209C>G,missense_variant,Conflicting interpretations of pathogenicity,37515,,4,833106,0.000004801309797312707,0,0,nfe,0.0000012299999999999999,14.0,0.194,0.00,0.00,1.06,0.190,0.0840,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092325-TG-T,17,43092325,rs886040103,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1069LysfsTer4,p.Gln1069LysfsTer4,c.3205del,frameshift_variant,Pathogenic,266342,lof_flag,1,833108,0.0000012003245677631232,0,0,,,25.0,,0.00,0.0800,1.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092327-A-G,17,43092327,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Ile,p.Ile1068Ile,c.3204T>C,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,4.96,,0.00,0.0100,-0.145,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092329-T-A,17,43092329,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Phe,p.Ile1068Phe,c.3202A>T,missense_variant,,,,1,1461714,6.841283588992101e-7,0,0,,,6.93,0.280,0.00,0.00,-0.820,0.290,0.0670,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,0,1111990,0,0,,,,,1,86254,0,0,0,60392,0,0 -17-43092329-T-C,17,43092329,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Val,p.Ile1068Val,c.3202A>G,missense_variant,,,,1,1461714,6.841283588992101e-7,0,0,,,3.06,0.335,0.00,0.00,-0.820,0.300,0.0230,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092340-C-T,17,43092340,rs2154337756,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1064Asn,p.Ser1064Asn,c.3191G>A,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,22.3,0.528,0.00,0.00,4.18,0.0700,0.990,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53012,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33092,0,0 -17-43092341-T-A,17,43092341,rs273899702,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1064Cys,p.Ser1064Cys,c.3190A>T,missense_variant,Conflicting interpretations of pathogenicity,54795,,2,628606,0.0000031816431914426525,0,0,nfe,9.5e-7,24.7,0.704,0.00,0.00,2.31,0.00,0.993,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53026,0,0,0,4148,0,0,2,350082,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092347-C-T,17,43092347,rs1567792594,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1062Ser,p.Gly1062Ser,c.3184G>A,missense_variant,Conflicting interpretations of pathogenicity,628537,,1,152196,0.0000065704749139267785,0,0,,,23.1,0.622,0.00,0.00,1.99,,,0,41528,0,0,0,15258,0,0,0,3472,0,0,0,5186,0,0,0,10590,0,0,0,294,0,0,0,68024,0,0,0,912,0,0,0,4820,0,0,1,2112,0,0 -17-43092350-T-G,17,43092350,rs876658975,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1061Leu,p.Ile1061Leu,c.3181A>C,missense_variant,Conflicting interpretations of pathogenicity,482961,,1,833088,0.0000012003533840362603,0,0,,,20.5,0.481,0.00,0.00,1.46,0.00,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092350-T-C,17,43092350,rs876658975,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1061Val,p.Ile1061Val,c.3181A>G,missense_variant,Conflicting interpretations of pathogenicity,231131,,12,833088,0.000014404240608435123,0,0,nfe,0.0000084,9.29,0.415,0.00,0.0100,1.46,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,12,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092353-C-A,17,43092353,rs80357424,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1060Ter,p.Glu1060Ter,c.3178G>T,stop_gained,Pathogenic,54789,lof_flag,1,628610,0.0000015908114729323427,0,0,,,36.0,,0.00,0.0600,5.84,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53024,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43092354-A-G,17,43092354,rs2154338457,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1059Asn,p.Asn1059Asn,c.3177T>C,synonymous_variant,Likely benign,1553345,,1,833096,0.0000012003418573609765,0,0,,,8.19,,0.00,0.00,0.545,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43092355-T-C,17,43092355,rs1427847949,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1059Ser,p.Asn1059Ser,c.3176A>G,missense_variant,Conflicting interpretations of pathogenicity,2037533,,1,628606,0.0000015908215957213262,0,0,,,24.0,0.418,0.00,0.0100,1.94,0.0100,0.780,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,1,53022,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092358-A-G,17,43092358,rs1555588264,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1058Thr,p.Ile1058Thr,c.3173T>C,missense_variant,,,,1,833098,0.0000012003389757267452,0,0,,,17.0,0.575,0.00,0.00,-0.339,0.110,0.0590,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43092360-A-G,17,43092360,rs746394738,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1057Ser,p.Ser1057Ser,c.3171T>C,synonymous_variant,Likely benign,232990,,5,1613790,0.0000030982965565532072,0,0,nfe,0.0000012399999999999998,5.47,,0.00,0.00,0.189,,,0,74892,0,0,0,59968,0,0,0,29604,0,0,0,44880,0,0,0,63914,0,0,0,6084,0,0,5,1179978,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 -17-43092361-C-T,17,43092361,rs587776487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1057Asn,p.Ser1057Asn,c.3170G>A,missense_variant,Conflicting interpretations of pathogenicity,156191,,3,628620,0.0000047723584995704874,0,0,nfe,0.00000228,23.4,0.543,0.00,0.00,4.59,0.00,0.996,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,3,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092362-T-C,17,43092362,rs80357479,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1057Gly,p.Ser1057Gly,c.3169A>G,missense_variant,Conflicting interpretations of pathogenicity,54787,,6,1613904,0.0000037176932456949113,0,0,afr,0.00001063,23.4,0.599,0.00,0.0100,3.34,0.0400,0.880,3,74936,0,0,1,59984,0,0,0,29602,0,0,0,44880,0,0,0,63932,0,0,0,6084,0,0,1,1180008,0,0,0,912,0,0,0,91086,0,0,1,62480,0,0 -17-43092363-G-A,17,43092363,rs2154338919,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Ser,p.Ser1056Ser,c.3168C>T,synonymous_variant,,,,1,833086,0.0000012003562657396716,0,0,,,7.14,,0.00,0.0200,0.0770,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43092364-G-T,17,43092364,rs587781588,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1056Tyr,p.Ser1056Tyr,c.3167C>A,missense_variant,Conflicting interpretations of pathogenicity,1728378,,1,151944,0.000006581372084452167,0,0,,,24.1,0.577,0.00,0.00,5.62,0.00,0.998,0,41346,0,0,1,15224,0,0,0,3470,0,0,0,5188,0,0,0,10590,0,0,0,316,0,0,0,67998,0,0,0,908,0,0,0,4818,0,0,0,2086,0,0 -17-43092364-G-C,17,43092364,rs587781588,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Cys,p.Ser1056Cys,c.3167C>G,missense_variant,Conflicting interpretations of pathogenicity,141223,,2,1461698,0.0000013682716949739275,0,0,,,24.3,0.611,0.00,0.0100,5.62,0.0100,0.998,1,33480,0,0,0,44724,0,0,0,26130,0,0,0,39682,0,0,0,53308,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092364-G-A,17,43092364,rs587781588,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Phe,p.Ser1056Phe,c.3167C>T,missense_variant,Conflicting interpretations of pathogenicity,231051,,1,1461698,6.841358474869637e-7,0,0,,,24.6,0.620,0.00,0.0100,5.62,0.0100,0.996,0,33480,0,0,0,44724,0,0,0,26130,0,0,1,39682,0,0,0,53308,0,0,0,5768,0,0,0,1111958,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092365-A-G,17,43092365,rs876659601,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1056Pro,p.Ser1056Pro,c.3166T>C,missense_variant,Conflicting interpretations of pathogenicity,232179,,2,985152,0.0000020301435717533943,0,0,,,23.3,0.535,0.00,0.0100,0.817,0.0900,0.728,0,57182,0,0,0,16246,0,0,0,8618,0,0,1,8816,0,0,0,10878,0,0,0,1936,0,0,1,829890,0,0,0,912,0,0,0,21286,0,0,0,29388,0,0 -17-43092366-G-A,17,43092366,rs1399306338,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1055Gly,p.Gly1055Gly,c.3165C>T,synonymous_variant,Likely benign,481426,,1,628614,0.000001590801350272186,0,0,,,6.85,,0.00,0.0100,0.0650,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43092368-C-T,17,43092368,rs749417532,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1055Ser,p.Gly1055Ser,c.3163G>A,missense_variant,Conflicting interpretations of pathogenicity,630124,,1,628612,0.0000015908064115861614,0,0,,,13.6,0.537,0.00,0.00,1.45,0.110,0.308,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43092371-C-T,17,43092371,rs876658479,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1054Met,p.Val1054Met,c.3160G>A,missense_variant,Conflicting interpretations of pathogenicity,230277,,2,780710,0.0000025617706959050097,0,0,,,16.2,0.513,0.00,0.0100,3.94,0.0300,0.957,0,59092,0,0,0,58992,0,0,0,24448,0,0,0,41246,0,0,0,63640,0,0,0,4464,0,0,2,418108,0,0,0,912,0,0,0,74620,0,0,0,35188,0,0 -17-43092372-T-C,17,43092372,rs1567792698,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1053Glu,p.Glu1053Glu,c.3159A>G,synonymous_variant,Uncertain significance,647142,,1,628620,0.0000015907861665234959,0,0,,,7.77,,0.00,0.0200,1.26,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36052,0,0,0,53038,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092374-C-T,17,43092374,rs786203587,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1053Lys,p.Glu1053Lys,c.3157G>A,missense_variant,,,,2,628618,0.0000031815824554817074,0,0,eas,0.00000919,23.7,0.645,0.00,0.0200,6.66,0.0100,0.994,0,17694,0,0,0,43740,0,0,0,20980,0,0,2,36052,0,0,0,53034,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092376-T-C,17,43092376,rs398122672,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1052Ser,p.Asn1052Ser,c.3155A>G,missense_variant,Conflicting interpretations of pathogenicity,91606,,2,985164,0.0000020301188431570786,0,0,,,21.7,0.504,0.00,0.0100,4.80,0.0600,0.829,1,57210,0,0,0,16248,0,0,0,8620,0,0,0,8826,0,0,0,10884,0,0,0,1936,0,0,1,829858,0,0,0,910,0,0,0,21286,0,0,0,29386,0,0 -17-43092377-T-C,17,43092377,rs768995134,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1052Asp,p.Asn1052Asp,c.3154A>G,missense_variant,Conflicting interpretations of pathogenicity,232778,,9,1461664,0.0000061573658515226486,0,0,sas,0.00002995,21.1,0.520,0.00,0.00,1.42,0.0900,0.742,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53322,0,0,0,5768,0,0,3,1111912,0,0,,,,,6,86250,0,0,0,60394,0,0 -17-43092377-T-G,17,43092377,rs768995134,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1052His,p.Asn1052His,c.3154A>C,missense_variant,,,,1,1461664,6.841517612802942e-7,0,0,,,22.8,0.522,0.00,0.00,1.42,0.0200,0.993,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53322,0,0,0,5768,0,0,1,1111912,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43092378-A-G,17,43092378,rs1057521053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1051Thr,p.Thr1051Thr,c.3153T>C,synonymous_variant,Likely benign,381500,,8,1461634,0.000005473326427819824,0,0,nfe,0.0000031,6.00,,0.00,0.00,-0.229,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53318,0,0,0,5768,0,0,8,1111886,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092380-T-C,17,43092380,rs398122671,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1051Ala,p.Thr1051Ala,c.3151A>G,missense_variant,Conflicting interpretations of pathogenicity,91605,,1,628622,0.0000015907811053383433,0,0,,,10.8,0.564,0.00,0.00,0.0160,0.150,0.0490,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53038,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092382-C-G,17,43092382,rs1597865440,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1050Thr,p.Ser1050Thr,c.3149G>C,missense_variant,Conflicting interpretations of pathogenicity,822994,,3,1461656,0.0000020524665174295455,0,0,nfe,2.999999999999999e-7,22.5,0.418,0.00,0.00,5.38,0.0100,0.979,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53316,0,0,0,5768,0,0,2,1111908,0,0,,,,,1,86252,0,0,0,60392,0,0 -17-43092387-A-G,17,43092387,rs80356837,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1048Gly,p.Gly1048Gly,c.3144T>C,synonymous_variant,Likely benign,54778,,1,628624,0.0000015907760441853954,0,0,,,6.07,,0.00,0.00,0.297,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53040,0,0,0,4146,0,0,0,350082,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092388-C-T,17,43092388,rs80356899,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1048Asp,p.Gly1048Asp,c.3143G>A,missense_variant,Conflicting interpretations of pathogenicity,54776,,16,1613750,0.000009914794732765298,0,0,afr,0.00011214,19.9,0.391,0.00,0.00,0.958,0.0300,0.411,14,74884,0,0,0,59972,0,0,0,29602,0,0,0,44880,0,0,0,63914,0,0,0,6080,0,0,2,1179946,0,0,0,912,0,0,0,91080,0,0,0,62480,0,0 -17-43092388-C-A,17,43092388,rs80356899,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1048Val,p.Gly1048Val,c.3143G>T,missense_variant,Benign,54777,,8,1461658,0.000005473236557388938,0,0,sas,0.00000385,15.7,0.369,0.00,0.00,0.958,0.0300,0.677,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53314,0,0,0,5766,0,0,6,1111918,0,0,,,,,2,86248,0,0,0,60392,0,0 -17-43092392-CTTCATTAATA-C,17,43092392,rs730881462,CTTCATTAATA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043LysfsTer2,p.Asn1043LysfsTer2,c.3129_3138del,frameshift_variant,Pathogenic,182111,lof_flag,1,628616,0.000001590796288990417,0,0,,,25.8,,0.00,0.0700,1.74,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53030,0,0,0,4146,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092393-T-C,17,43092393,rs1567792762,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1046Glu,p.Glu1046Glu,c.3138A>G,synonymous_variant,Likely benign,1728027,,1,628608,0.000001590816534310731,0,0,,,8.45,,0.130,0.260,0.847,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36054,0,0,0,53024,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092399-A-C,17,43092399,rs1555588333,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1044Met,p.Ile1044Met,c.3132T>G,missense_variant,Conflicting interpretations of pathogenicity,441445,,1,833064,0.0000012003879653904143,0,0,,,16.9,0.482,0.00,0.00,0.296,0.0100,0.832,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43092401-T-C,17,43092401,rs80357271,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1044Val,p.Ile1044Val,c.3130A>G,missense_variant,Benign,37510,,26,1613822,0.000016110822630996478,0,0,afr,0.000017460000000000002,0.650,0.420,0.00,0.00,-0.692,0.380,0.00900,4,74906,0,0,0,59988,0,0,0,29602,0,0,0,44876,0,0,0,63912,0,0,0,6082,0,0,21,1179978,0,0,0,912,0,0,0,91084,0,0,1,62482,0,0 -17-43092402-A-G,17,43092402,rs1555588339,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043Asn,p.Asn1043Asn,c.3129T>C,synonymous_variant,Conflicting interpretations of pathogenicity,462604,,9,1461692,0.000006157247901746743,0,0,nfe,0.00000381,6.70,,0.00,0.0200,0.400,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53308,0,0,0,5766,0,0,9,1111954,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092403-T-C,17,43092403,rs1228972723,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043Ser,p.Asn1043Ser,c.3128A>G,missense_variant,,,,2,1461688,0.000001368281055875125,0,0,,,4.62,0.194,0.00,0.0100,1.04,1.00,0.00,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39682,0,0,0,53304,0,0,0,5766,0,0,1,1111954,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092405-G-C,17,43092405,rs878854943,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1042Arg,p.Ser1042Arg,c.3126C>G,missense_variant,Conflicting interpretations of pathogenicity,240787,,4,628600,0.000006363347120585428,0,0,nfe,0.0000036699999999999996,18.0,0.469,0.00,0.00,0.959,0.160,0.175,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53014,0,0,0,4148,0,0,4,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092406-C-T,17,43092406,rs767217821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1042Asn,p.Ser1042Asn,c.3125G>A,missense_variant,Conflicting interpretations of pathogenicity,952782,,1,628610,0.0000015908114729323427,0,0,,,16.9,0.344,0.00,0.0100,4.24,0.200,0.0620,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53024,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092412-C-G,17,43092412,rs4986852,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1040Thr,p.Ser1040Thr,c.3119G>C,missense_variant,Conflicting interpretations of pathogenicity,462603,,2,1613754,0.0000012393462696296957,0,0,,,13.5,0.409,0.00,0.00,1.49,0.0800,0.987,0,74882,0,0,0,59976,0,0,0,29602,0,0,0,44882,0,0,0,63872,0,0,0,6084,0,0,0,1179982,0,0,0,912,0,0,2,91080,0,0,0,62482,0,0 -17-43092412-C-T,17,43092412,rs4986852,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1040Asn,p.Ser1040Asn,c.3119G>A,missense_variant,Benign,17670,,31073,1613846,0.01925400564861827,338,0,nfe,0.02298923,6.61,0.376,0.00,0.00,1.49,0.210,0.831,326,75004,0,0,768,59996,6,0,589,29602,6,0,1,44870,0,0,230,63872,1,0,85,6062,2,0,27398,1179948,304,0,75,912,1,0,541,91076,6,0,1060,62504,12,0 -17-43092415-G-A,17,43092415,rs1173254670,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1039Val,p.Ala1039Val,c.3116C>T,missense_variant,Conflicting interpretations of pathogenicity,628386,,1,151948,0.000006581198831179088,0,0,,,7.06,0.442,0.00,0.0100,0.724,,,0,41352,0,0,0,15226,0,0,0,3466,0,0,0,5190,0,0,0,10582,0,0,0,314,0,0,1,67996,0,0,0,912,0,0,0,4824,0,0,0,2086,0,0 -17-43092415-G-C,17,43092415,rs1173254670,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1039Gly,p.Ala1039Gly,c.3116C>G,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,7.04,0.382,0.00,0.0100,0.724,0.280,0.00500,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53006,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092415-GC-G,17,43092415,rs886040098,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1039ProfsTer9,p.Ala1039ProfsTer9,c.3115del,frameshift_variant,Pathogenic,266336,lof_flag,1,628592,0.0000015908570264973147,0,0,,,18.4,,0.00,0.0500,0.724,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53006,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092417-T-C,17,43092417,rs1479034426,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1038Glu,p.Glu1038Glu,c.3114A>G,synonymous_variant,,,,1,152122,0.000006573671132380589,0,0,,,3.88,,0.00,0.0200,0.231,,,0,41428,0,0,0,15254,0,0,1,3468,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 -17-43092418-T-C,17,43092418,rs16941,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1038Gly,p.Glu1038Gly,c.3113A>G,missense_variant,Benign,41815,,538509,1613370,0.33377898436192566,92638,0,sas,0.49444410999999994,14.1,0.227,0.00,0.0100,0.993,0.160,0.606,13305,74934,1227,0,18936,59956,3024,0,10533,29598,1859,0,15905,44862,2872,0,25339,63778,5007,0,2223,6062,437,0,385798,1179724,63037,0,260,912,41,0,45368,91048,11615,0,20842,62496,3519,0 -17-43092418-T-G,17,43092418,rs16941,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1038Ala,p.Glu1038Ala,c.3113A>C,missense_variant,Conflicting interpretations of pathogenicity,240786,,2,1461660,0.0000013683072670798954,0,0,eas,0.00000835,21.1,0.420,0.00,0.0100,0.993,0.0300,0.967,0,33480,0,0,0,44724,0,0,0,26130,0,0,2,39682,0,0,0,53278,0,0,0,5768,0,0,0,1111952,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092425-A-G,17,43092425,rs766381694,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1036Leu,p.Phe1036Leu,c.3106T>C,missense_variant,Conflicting interpretations of pathogenicity,265049,,6,1613786,0.0000037179650833505805,0,0,nfe,0.00000183,7.50,0.225,0.00,0.0100,0.534,0.400,0.00500,0,74888,0,0,0,59980,0,0,0,29602,0,0,0,44882,0,0,0,63902,0,0,0,6084,0,0,6,1179976,0,0,0,912,0,0,0,91076,0,0,0,62484,0,0 -17-43092426-A-C,17,43092426,rs1452354450,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1035Val,p.Val1035Val,c.3105T>G,synonymous_variant,Likely benign,1343633,,1,628602,0.0000015908317186391388,0,0,,,3.54,,0.00,0.00,2.33,,,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53020,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092430-T-G,17,43092430,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1034Thr,p.Asn1034Thr,c.3101A>C,missense_variant,Conflicting interpretations of pathogenicity,1727646,,1,833100,0.0000012003360941063497,0,0,,,0.0750,0.412,0.00,0.00,0.0930,0.260,0.147,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092431-T-C,17,43092431,rs2154342594,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1034Asp,p.Asn1034Asp,c.3100A>G,missense_variant,Conflicting interpretations of pathogenicity,1398452,,1,628612,0.0000015908064115861614,0,0,,,1.82,0.268,0.00,0.0200,0.00200,0.380,0.0270,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092434-C-T,17,43092434,rs273899698,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1033Lys,p.Glu1033Lys,c.3097G>A,missense_variant,Conflicting interpretations of pathogenicity,182152,,1,833090,0.0000012003505023466853,0,0,,,14.4,0.492,0.00,0.0100,4.78,0.0700,0.688,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761886,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43092438-A-T,17,43092438,rs786204265,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1031Ile,p.Ile1031Ile,c.3093T>A,synonymous_variant,Likely benign,188410,,6,1461696,0.000004104820701431761,0,0,nfe,0.00000194,2.04,,0.00,0.00,0.271,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53298,0,0,0,5768,0,0,6,1111968,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092439-A-C,17,43092439,rs863224758,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1031Ser,p.Ile1031Ser,c.3092T>G,missense_variant,Conflicting interpretations of pathogenicity,216661,,6,780650,0.000007685902773329918,0,0,nfe,0.0000061599999999999995,4.70,0.551,0.00,0.0100,0.271,0.650,0.342,0,59072,0,0,0,59002,0,0,0,24448,0,0,0,41244,0,0,0,63610,0,0,0,4464,0,0,6,418100,0,0,0,912,0,0,0,74614,0,0,0,35184,0,0 -17-43092440-T-C,17,43092440,rs786203979,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1031Val,p.Ile1031Val,c.3091A>G,missense_variant,Conflicting interpretations of pathogenicity,188293,,2,628612,0.0000031816128231723227,0,0,,,6.91,0.599,0.00,0.00,0.272,0.130,0.109,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,1,53034,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092440-T-A,17,43092440,rs786203979,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1031Phe,p.Ile1031Phe,c.3091A>T,missense_variant,Conflicting interpretations of pathogenicity,187759,,1,152170,0.0000065715975553657095,0,0,,,16.1,0.562,0.00,0.00,0.272,,,1,41436,0,0,0,15268,0,0,0,3464,0,0,0,5200,0,0,0,10612,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43092441-G-A,17,43092441,rs1221088119,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1030Asn,p.Asn1030Asn,c.3090C>T,synonymous_variant,Likely benign,482893,,7,1461702,0.0000047889378272725906,0,0,nfe,0.0000026200000000000003,2.34,,0.00,0.00,1.67,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53302,0,0,0,5768,0,0,7,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092445-T-C,17,43092445,rs753286589,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1029Ser,p.Asn1029Ser,c.3086A>G,missense_variant,Conflicting interpretations of pathogenicity,630125,,1,628608,0.000001590816534310731,0,0,,,2.37,0.270,0.00,0.0100,0.233,0.320,0.574,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53022,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092448-C-T,17,43092448,rs80357459,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1028His,p.Arg1028His,c.3083G>A,missense_variant,Benign,37507,,408,1613886,0.0002528059602722869,2,0,amr,0.0048049600000000005,3.88,0.325,0.00,0.0100,0.704,0.170,0.00,12,75028,0,0,317,59992,1,0,0,29598,0,0,5,44870,0,0,0,63892,0,0,0,6062,0,0,51,1179952,0,0,0,912,0,0,6,91076,1,0,17,62504,0,0 -17-43092448-C-A,17,43092448,rs80357459,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1028Leu,p.Arg1028Leu,c.3083G>T,missense_variant,Conflicting interpretations of pathogenicity,185826,,2,1461662,0.00000136830539481768,0,0,,,3.51,0.259,0.00,0.0200,0.704,0.150,0.00,0,33480,0,0,1,44724,0,0,0,26130,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,1,1111942,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092449-G-A,17,43092449,rs80357049,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1028Cys,p.Arg1028Cys,c.3082C>T,missense_variant,Benign,37506,,51,1613618,0.00003160599348792589,0,0,nfe,0.00002665,21.8,0.341,0.00,0.0100,4.17,0.120,0.276,0,74834,0,0,1,59964,0,0,0,29600,0,0,0,44872,0,0,0,63834,0,0,1,6080,0,0,42,1179968,0,0,0,912,0,0,5,91072,0,0,2,62482,0,0 -17-43092449-G-T,17,43092449,rs80357049,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1028Ser,p.Arg1028Ser,c.3082C>A,missense_variant,,,,1,1461676,6.841461445628169e-7,0,0,,,15.1,0.336,0.00,0.0100,4.17,0.0900,0.00700,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53288,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092450-G-A,17,43092450,rs2154343467,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1027Ser,p.Ser1027Ser,c.3081C>T,synonymous_variant,Likely benign,1078377,,4,1461676,0.0000027365845782512676,0,0,nfe,8.4e-7,5.46,,0.00,0.0100,1.11,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53284,0,0,0,5768,0,0,4,1111968,0,0,,,,,0,86254,0,0,0,60386,0,0 -17-43092452-T-C,17,43092452,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1027Gly,p.Ser1027Gly,c.3079A>G,missense_variant,,,,1,1461720,6.841255507210683e-7,0,0,,,14.8,0.524,0.00,0.0100,1.67,0.0700,0.287,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53318,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092455-T-C,17,43092455,rs1468925322,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1026Val,p.Ile1026Val,c.3076A>G,missense_variant,Conflicting interpretations of pathogenicity,1049110,,1,628626,0.000001590770983064652,0,0,,,0.0960,0.247,0.00,0.0100,-3.20,0.340,0.0200,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53044,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092456-T-C,17,43092456,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1025Thr,p.Thr1025Thr,c.3075A>G,synonymous_variant,Likely benign,1727298,,3,833104,0.0000036009909927211967,0,0,nfe,0.00000105,3.62,,0.00,0.0100,0.646,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092456-T-G,17,43092456,rs786201258,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1025Thr,p.Thr1025Thr,c.3075A>C,synonymous_variant,Likely benign,184066,,9,833104,0.000010802972978163591,0,0,nfe,0.00000556,3.25,,0.00,0.00,0.646,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,9,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092459-G-T,17,43092459,rs397509033,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1024Arg,p.Ser1024Arg,c.3072C>A,missense_variant,Conflicting interpretations of pathogenicity,1727270,,1,628600,0.000001590836780146357,0,0,,,14.1,0.582,0.00,0.00,1.44,0.0600,0.334,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53018,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092460-C-G,17,43092460,rs757579891,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1024Thr,p.Ser1024Thr,c.3071G>C,missense_variant,Conflicting interpretations of pathogenicity,224431,,1,152106,0.000006574362615544423,0,0,,,15.3,0.510,0.00,0.0100,0.150,,,0,41416,0,0,0,15250,0,0,0,3466,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43092460-C-T,17,43092460,rs757579891,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1024Asn,p.Ser1024Asn,c.3071G>A,missense_variant,Conflicting interpretations of pathogenicity,187719,,2,628610,0.0000031816229458646854,0,0,,,4.95,0.179,0.00,0.00,0.150,0.140,0.170,1,17694,0,0,0,43740,0,0,0,20980,0,0,1,36052,0,0,0,53026,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092464-CT-C,17,43092464,rs786202906,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1023Ter,p.Val1023Ter,c.3066del,frameshift_variant,Pathogenic/Likely pathogenic,186381,lof_flag,3,833100,0.0000036010082823190495,0,0,nfe,0.00000105,23.5,,0.0400,0.140,0.0920,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092466-G-C,17,43092466,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1022Arg,p.Thr1022Arg,c.3065C>G,missense_variant,,,,1,833080,0.0000012003649109329235,0,0,,,17.5,0.566,0.00,0.0100,2.51,0.0100,0.835,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092468-A-G,17,43092468,rs1364539273,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1021Ser,p.Ser1021Ser,c.3063T>C,synonymous_variant,Likely benign,560730,,6,833092,0.000007202085724025678,0,0,nfe,0.00000283,5.91,,0.0100,0.0100,-0.445,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092469-C-G,17,43092469,rs1414091448,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1021Thr,p.Ser1021Thr,c.3062G>C,missense_variant,Conflicting interpretations of pathogenicity,1799388,,1,628630,0.000001590760860919778,0,0,,,17.6,0.599,0.0100,0.0100,0.849,0.0200,0.928,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53050,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092471-T-C,17,43092471,rs781435355,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1020Pro,p.Pro1020Pro,c.3060A>G,synonymous_variant,Likely benign,184695,,5,1613916,0.0000030980546695119203,0,0,eas,0.00004345999999999998,3.27,,0.00,0.00,-0.289,,,0,74932,0,0,0,59996,0,0,0,29602,0,0,5,44880,0,0,0,63954,0,0,0,6084,0,0,0,1179988,0,0,0,910,0,0,0,91086,0,0,0,62484,0,0 -17-43092476-T-C,17,43092476,rs80357311,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1019Val,p.Ile1019Val,c.3055A>G,missense_variant,Conflicting interpretations of pathogenicity,37504,,4,780836,0.000005122714628936166,0,0,nfe,0.0000032400000000000003,0.0430,0.304,0.00,0.00,-1.76,0.330,0.0150,0,59162,0,0,0,59020,0,0,0,24446,0,0,0,41250,0,0,0,63662,0,0,0,4464,0,0,4,418108,0,0,0,912,0,0,0,74628,0,0,0,35184,0,0 -17-43092477-G-A,17,43092477,rs1429701835,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1018Asn,p.Asn1018Asn,c.3054C>T,synonymous_variant,Likely benign,491057,,4,985178,0.000004060179987778858,0,0,nfe,9.6e-7,0.506,,0.00,0.00,-0.107,,,0,57190,0,0,0,16244,0,0,0,8620,0,0,0,8830,0,0,0,10878,0,0,0,1936,0,0,3,829888,0,0,0,912,0,0,0,21290,0,0,1,29390,0,0 -17-43092478-T-TTCTCA,17,43092478,rs80357856,T,TTCTCA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1018MetfsTer8,p.Asn1018MetfsTer8,c.3048_3052dup,frameshift_variant,Pathogenic,54763,lof_flag,11,1461712,0.000007525422244600852,0,0,nfe,0.00000531,24.1,,0.00,0.0500,-0.823,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53328,0,0,0,5768,0,0,11,1111954,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092479-T-A,17,43092479,rs2154345159,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1018Tyr,p.Asn1018Tyr,c.3052A>T,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,22.9,0.397,0.00,0.0100,1.38,0.0100,0.615,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53060,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,1,33094,0,0 -17-43092482-C-T,17,43092482,rs80357004,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1017Lys,p.Glu1017Lys,c.3049G>A,missense_variant,Conflicting interpretations of pathogenicity,970579,,1,628642,0.0000015907304952580323,0,0,,,5.94,0.521,0.00,0.00,0.577,0.0800,0.0770,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36052,0,0,0,53058,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69792,0,0,0,33094,0,0 -17-43092484-T-A,17,43092484,rs1567793123,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Ile,p.Asn1016Ile,c.3047A>T,missense_variant,,,,2,1461710,0.000001368260462061558,0,0,eas,0.00000835,18.5,0.361,0.00,0.00,-0.452,0.00,0.928,0,33480,0,0,0,44722,0,0,0,26132,0,0,2,39682,0,0,0,53340,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092484-T-C,17,43092484,rs1567793123,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Ser,p.Asn1016Ser,c.3047A>G,missense_variant,Conflicting interpretations of pathogenicity,584950,,4,1461710,0.000002736520924123116,0,0,nfe,8.4e-7,3.56,0.287,0.00,0.00,-0.452,0.370,0.0810,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,4,1111942,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092485-T-C,17,43092485,rs80357154,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Asp,p.Asn1016Asp,c.3046A>G,missense_variant,Conflicting interpretations of pathogenicity,54762,,1,628648,0.0000015907153128618877,0,0,,,21.9,0.385,0.00,0.0100,2.32,0.0100,0.770,1,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53070,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092487-C-T,17,43092487,rs2154345567,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1015Glu,p.Gly1015Glu,c.3044G>A,missense_variant,,,,1,833048,0.0000012004110207334991,0,0,,,2.30,0.313,0.00,0.00,0.365,0.260,0.350,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761848,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43092490-A-T,17,43092490,rs80357020,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Lys,p.Met1014Lys,c.3041T>A,missense_variant,Conflicting interpretations of pathogenicity,54761,,10,1461722,0.0000068412461466681075,0,0,nfe,0.0000031,13.2,0.352,0.00,0.0100,-0.0650,0.0100,0.127,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,8,1111954,0,0,,,,,0,86252,0,0,2,60390,0,0 -17-43092490-A-G,17,43092490,rs80357020,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Thr,p.Met1014Thr,c.3041T>C,missense_variant,Conflicting interpretations of pathogenicity,91604,,2,1461722,0.0000013682492293336216,0,0,,,10.8,0.352,0.00,0.0100,-0.0650,0.0500,0.0170,0,33480,0,0,0,44724,0,0,2,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,0,1111954,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43092491-T-A,17,43092491,rs80356933,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1014Leu,p.Met1014Leu,c.3040A>T,missense_variant,Conflicting interpretations of pathogenicity,54760,,3,780838,0.000003842026130900391,0,0,afr,0.00001346,0.00100,0.385,0.00,0.00,-9.36,0.280,0.00100,3,59158,0,0,0,58998,0,0,0,24446,0,0,0,41252,0,0,0,63690,0,0,0,4464,0,0,0,418108,0,0,0,912,0,0,0,74628,0,0,0,35182,0,0 -17-43092491-T-C,17,43092491,rs80356933,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Val,p.Met1014Val,c.3040A>G,missense_variant,Conflicting interpretations of pathogenicity,54759,,1,628654,0.0000015907001307555508,0,0,,,0.00100,0.389,0.00,0.00,-9.36,0.870,0.00,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53072,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092492-TTC-T,17,43092492,rs397507208,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1013AsnfsTer4,p.Glu1013AsnfsTer4,c.3037_3038del,frameshift_variant,Pathogenic,37502,lof_flag,1,628668,0.0000015906647069677476,0,0,,,18.7,,0.00,0.0400,-0.0500,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53080,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092496-C-G,17,43092496,rs876658464,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1012Thr,p.Arg1012Thr,c.3035G>C,missense_variant,Conflicting interpretations of pathogenicity,844302,,1,628674,0.0000015906495258273763,0,0,,,5.59,0.474,0.00,0.00,0.277,0.220,0.821,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53086,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43092497-T-C,17,43092497,rs1555588503,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1012Gly,p.Arg1012Gly,c.3034A>G,missense_variant,Conflicting interpretations of pathogenicity,441441,,2,985288,0.0000020298633495993048,0,0,,,22.5,0.415,0.00,0.00,2.50,0.0500,0.178,2,57252,0,0,0,16254,0,0,0,8624,0,0,0,8834,0,0,0,10898,0,0,0,1936,0,0,0,829896,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 -17-43092504-T-G,17,43092504,rs1555588512,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1009Ser,p.Ser1009Ser,c.3027A>C,synonymous_variant,Conflicting interpretations of pathogenicity,462600,,2,1461694,0.0000013682754393190367,0,0,nfe,2.999999999999999e-7,2.30,,0.00,0.0200,0.0240,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53370,0,0,0,5768,0,0,2,1111902,0,0,,,,,0,86252,0,0,0,60388,0,0 -17-43092507-C-T,17,43092507,rs1800704,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1008Ile,p.Met1008Ile,c.3024G>A,missense_variant,Benign,41814,,972,1613918,0.000602261081418015,3,0,amr,0.00187858,0.203,0.452,0.00,0.00,-0.176,0.630,0.00,20,75018,0,0,131,60008,0,0,279,29598,3,0,0,44874,0,0,10,63964,0,0,14,6062,0,0,369,1179902,0,0,0,912,0,0,46,91076,0,0,103,62504,0,0 -17-43092509-T-C,17,43092509,rs56321129,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1008Val,p.Met1008Val,c.3022A>G,missense_variant,Benign,54755,,265,1614064,0.0001641818416122285,0,0,afr,0.0026638200000000008,0.00100,0.435,0.00,0.0100,-7.76,1.00,0.00,224,75050,0,0,3,60012,0,0,0,29600,0,0,0,44872,0,0,0,63992,0,0,1,6062,0,0,26,1179976,0,0,0,912,0,0,1,91082,0,0,10,62506,0,0 -17-43092509-T-G,17,43092509,rs56321129,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1008Leu,p.Met1008Leu,c.3022A>C,missense_variant,Conflicting interpretations of pathogenicity,142775,,1,1461750,6.841115101761587e-7,0,0,,,0.00100,0.461,0.00,0.0100,-7.76,0.920,0.00,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53372,0,0,0,5768,0,0,1,1111950,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092512-A-G,17,43092512,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1007Pro,p.Ser1007Pro,c.3019T>C,missense_variant,,,,1,628684,0.0000015906242245706906,0,0,,,2.97,0.518,0.00,0.00,-1.16,0.210,0.0310,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53098,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092518-C-T,17,43092518,rs2154347293,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1005Lys,p.Glu1005Lys,c.3013G>A,missense_variant,,,,1,628678,0.0000015906394052281136,0,0,,,7.31,0.466,0.00,0.0100,1.20,0.420,0.145,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53098,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092519-C-T,17,43092519,rs786201784,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1004Glu,p.Glu1004Glu,c.3012G>A,synonymous_variant,Likely benign,184912,,12,1613864,0.000007435570779198247,0,0,amr,0.00005435999999999998,0.757,,0.00,0.00,2.91,,,0,74886,0,0,7,59982,0,0,0,29602,0,0,0,44878,0,0,0,63974,0,0,0,6084,0,0,4,1179982,0,0,0,912,0,0,0,91080,0,0,1,62484,0,0 -17-43092521-C-G,17,43092521,rs786202534,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1004Gln,p.Glu1004Gln,c.3010G>C,missense_variant,Conflicting interpretations of pathogenicity,185883,,8,1613884,0.00000495698575610143,0,0,nfe,0.00000292,17.8,0.402,0.00,0.0100,2.35,0.0700,0.844,0,74906,0,0,0,59972,0,0,0,29598,0,0,0,44886,0,0,0,63984,0,0,0,6084,0,0,8,1179978,0,0,0,912,0,0,0,91076,0,0,0,62488,0,0 -17-43092521-CAA-C,17,43092521,rs80357617,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1003Ter,p.Phe1003Ter,c.3008_3009del,frameshift_variant,Pathogenic,54747,lof_flag,1,1461764,6.841049581190945e-7,0,0,,,23.0,,0.00,0.0400,2.35,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53376,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092523-A-G,17,43092523,rs1344422504,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1003Ser,p.Phe1003Ser,c.3008T>C,missense_variant,Conflicting interpretations of pathogenicity,822568,,2,628688,0.000003181228208586771,0,0,nfe,9.5e-7,5.74,0.331,0.00,0.00,-0.833,0.270,0.00700,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53112,0,0,0,4148,0,0,2,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092525-GT-G,17,43092525,rs80357601,GT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1002ThrfsTer22,p.Asn1002ThrfsTer22,c.3005del,frameshift_variant,Pathogenic,17669,lof_flag,9,1613864,0.000005576678084398686,0,0,nfe,0.0000035900000000000004,10.4,,0.00,0.0300,-0.0190,,,0,74880,0,0,0,59978,0,0,0,29598,0,0,0,44888,0,0,0,63966,0,0,0,6084,0,0,9,1179994,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 -17-43092527-T-C,17,43092527,rs786202665,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1002Asp,p.Asn1002Asp,c.3004A>G,missense_variant,Conflicting interpretations of pathogenicity,186062,,5,1461782,0.0000034204826711506914,0,0,nfe,0.0000013199999999999999,17.4,0.244,0.00,0.00,1.54,0.0100,0.0570,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,5,1111966,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092527-TTTCCTC-T,17,43092527,rs80358333,TTTCCTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1000_Glu1001del,p.Glu1000_Glu1001del,c.2998_3003del,inframe_deletion,Conflicting interpretations of pathogenicity,54743,,64,1613982,0.00003965347816766234,0,0,nfe,0.00004101,11.9,,0.00,0.0100,1.54,,,2,74926,0,0,0,59988,0,0,0,29602,0,0,0,44888,0,0,0,64008,0,0,0,6084,0,0,61,1180004,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 -17-43092529-T-C,17,43092529,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1001Gly,p.Glu1001Gly,c.3002A>G,missense_variant,,,,1,832996,0.0000012004859567152783,0,0,,,14.4,0.260,0.00,0.0200,0.665,0.140,0.0490,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761794,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43092531-C-T,17,43092531,rs748410422,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Glu,p.Glu1000Glu,c.3000G>A,synonymous_variant,Likely benign,2030514,,2,1461658,0.0000013683091393472345,0,0,nfe,2.999999999999999e-7,3.48,,0.00,0.00,0.822,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,2,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092531-CT-C,17,43092531,rs80357991,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000GlyfsTer24,p.Glu1000GlyfsTer24,c.2999del,frameshift_variant,Pathogenic,54744,lof_flag,2,1461658,0.0000013683091393472345,0,0,nfe,2.999999999999999e-7,23.3,,0.00,0.0700,0.822,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,2,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092531-C-A,17,43092531,rs748410422,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Asp,p.Glu1000Asp,c.3000G>T,missense_variant,,,,2,1461658,0.0000013683091393472345,1,0,sas,0.00000385,20.0,0.492,0.00,0.00,0.822,0.0200,0.391,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,0,1111854,0,0,,,,,2,86252,1,0,0,60392,0,0 -17-43092532-T-C,17,43092532,rs1060502330,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1000Gly,p.Glu1000Gly,c.2999A>G,missense_variant,Conflicting interpretations of pathogenicity,409306,,1,152190,0.000006570733950982325,0,0,,,16.5,0.286,0.00,0.0300,2.40,,,1,41450,0,0,0,15268,0,0,0,3468,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4828,0,0,0,2094,0,0 -17-43092533-C-T,17,43092533,rs80357124,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Lys,p.Glu1000Lys,c.2998G>A,missense_variant,Conflicting interpretations of pathogenicity,54742,,5,1461652,0.000003420786890449984,0,0,nfe,0.0000013199999999999999,14.7,0.419,0.00,0.00,4.05,0.130,0.282,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53372,0,0,0,5768,0,0,5,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092533-C-G,17,43092533,rs80357124,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Gln,p.Glu1000Gln,c.2998G>C,missense_variant,Conflicting interpretations of pathogenicity,1369424,,1,1461652,6.841573780899967e-7,0,0,,,21.3,0.429,0.00,0.0100,4.05,0.0100,0.917,0,33476,0,0,1,44722,0,0,0,26132,0,0,0,39684,0,0,0,53372,0,0,0,5768,0,0,0,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43092538-A-T,17,43092538,rs1567793330,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Gln,p.Leu998Gln,c.2993T>A,missense_variant,Conflicting interpretations of pathogenicity,628929,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,15.6,0.475,0.00,0.0100,-0.119,0.100,0.996,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092538-A-G,17,43092538,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Pro,p.Leu998Pro,c.2993T>C,missense_variant,,,,1,833102,0.0000012003332124997898,0,0,,,10.6,0.444,0.00,0.00,-0.119,0.0900,0.606,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092539-G-C,17,43092539,rs876659077,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Val,p.Leu998Val,c.2992C>G,missense_variant,Conflicting interpretations of pathogenicity,231296,,1,833098,0.0000012003389757267452,0,0,,,13.3,0.512,0.00,0.0100,0.539,0.0300,0.831,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092540-A-ATT,17,43092540,rs80357829,A,ATT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997LysfsTer4,p.Asn997LysfsTer4,c.2989_2990dup,frameshift_variant,Pathogenic,54738,lof_flag,1,628682,0.0000015906292847576358,0,0,,,22.2,,0.0100,0.0300,0.357,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092540-A-C,17,43092540,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997Lys,p.Asn997Lys,c.2991T>G,missense_variant,,,,1,628682,0.0000015906292847576358,0,0,,,6.33,0.257,0.00,0.00,0.357,0.180,0.0860,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092541-T-C,17,43092541,rs1597866298,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997Ser,p.Asn997Ser,c.2990A>G,missense_variant,Conflicting interpretations of pathogenicity,822444,,1,628682,0.0000015906292847576358,0,0,,,5.94,0.177,0.00,0.00,0.0220,0.340,0.0330,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53106,0,0,0,4148,0,0,0,350074,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092544-T-C,17,43092544,rs786202898,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys996Arg,p.Lys996Arg,c.2987A>G,missense_variant,Conflicting interpretations of pathogenicity,186373,,1,628678,0.0000015906394052281136,0,0,,,7.28,0.427,0.00,0.00,0.569,0.160,0.175,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53106,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092548-T-C,17,43092548,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys995Glu,p.Lys995Glu,c.2983A>G,missense_variant,Conflicting interpretations of pathogenicity,1798417,,1,628674,0.0000015906495258273763,0,0,,,5.29,0.370,0.00,0.00,0.461,0.100,0.0310,0,17694,0,0,0,43738,0,0,0,20980,0,0,1,36054,0,0,0,53104,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092548-TAC-T,17,43092548,rs397507207,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys994Ter,p.Cys994Ter,c.2981_2982del,frameshift_variant,Pathogenic,37495,lof_flag,1,628674,0.0000015906495258273763,0,0,,,22.3,,0.00,0.0100,0.461,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43092550-C-A,17,43092550,rs1238452758,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys994Phe,p.Cys994Phe,c.2981G>T,missense_variant,Conflicting interpretations of pathogenicity,655973,,1,1461778,6.840984061875333e-7,0,0,,,7.54,0.325,0.00,0.00,0.605,0.410,0.0430,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53380,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43092550-C-T,17,43092550,rs1238452758,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys994Tyr,p.Cys994Tyr,c.2981G>A,missense_variant,Conflicting interpretations of pathogenicity,482925,,2,1613880,0.0000012392495104964434,0,0,,,4.26,0.287,0.00,0.00,0.605,0.810,0.00900,0,74894,0,0,2,59980,0,0,0,29602,0,0,0,44888,0,0,0,63982,0,0,0,6084,0,0,0,1179980,0,0,0,912,0,0,0,91074,0,0,0,62484,0,0 -17-43092551-A-G,17,43092551,rs144853230,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys994Arg,p.Cys994Arg,c.2980T>C,missense_variant,Conflicting interpretations of pathogenicity,193694,,2,985320,0.0000020297974262168635,0,0,,,8.09,0.346,0.00,0.00,-0.151,0.270,0.0150,1,57318,0,0,0,16262,0,0,0,8620,0,0,0,8816,0,0,0,10872,0,0,0,1914,0,0,0,829912,0,0,0,912,0,0,0,21286,0,0,1,29408,0,0 -17-43092552-T-C,17,43092552,rs772854836,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys993Lys,p.Lys993Lys,c.2979A>G,synonymous_variant,Likely benign,183786,,37,1461778,0.00002531164102893873,0,0,sas,0.00028991000000000016,2.82,,0.00,0.00,-0.532,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,1,1111968,0,0,,,,,34,86252,0,0,2,60394,0,0 -17-43092553-T-A,17,43092553,rs1391565083,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys993Ile,p.Lys993Ile,c.2978A>T,missense_variant,,,,1,628678,0.0000015906394052281136,0,0,,,1.93,0.236,0.00,0.00,-0.692,0.230,0.00500,0,17694,0,0,1,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092555-A-G,17,43092555,rs1429867282,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr992Thr,p.Thr992Thr,c.2976T>C,synonymous_variant,,,,1,152110,0.00000657418973111564,0,0,,,2.87,,0.00,0.00,0.122,,,0,41412,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10608,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43092556-GT-G,17,43092556,rs2053663370,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr992LeufsTer8,p.Thr992LeufsTer8,c.2974del,frameshift_variant,Pathogenic,853416,lof_flag,1,628672,0.0000015906545861753029,0,0,,,21.7,,0.00,0.0300,0.634,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53100,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69792,0,0,1,33096,0,0 -17-43092562-A-G,17,43092562,rs760588785,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val990Ala,p.Val990Ala,c.2969T>C,missense_variant,Conflicting interpretations of pathogenicity,233926,,4,1461792,0.000002736367417525886,0,0,eas,0.00003349,6.52,0.447,0.0100,0.00,1.26,0.110,0.418,0,33480,0,0,0,44722,0,0,0,26132,0,0,4,39684,0,0,0,53390,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43092564-A-G,17,43092564,rs876659270,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Phe,p.Phe989Phe,c.2967T>C,synonymous_variant,,,,3,1461794,0.0000020522727552582648,0,0,sas,0.00000924,3.74,,0.0100,0.0100,0.231,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,3,86252,0,0,0,60394,0,0 -17-43092564-A-T,17,43092564,rs876659270,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Leu,p.Phe989Leu,c.2967T>A,missense_variant,Conflicting interpretations of pathogenicity,231629,,1,1461794,6.840909184194216e-7,0,0,,,8.66,0.311,0.00,0.0100,0.231,0.330,0.0100,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,1,60394,0,0 -17-43092565-A-G,17,43092565,rs4986848,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Ser,p.Phe989Ser,c.2966T>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.16,0.220,0.0200,0.0100,0.636,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43092567-T-C,17,43092567,rs1064796061,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser988Ser,p.Ser988Ser,c.2964A>G,synonymous_variant,Conflicting interpretations of pathogenicity,422874,,15,1461784,0.00001026143397382924,0,0,eas,0.00013582999999999998,2.92,,0.00,0.00,0.451,,,0,33478,0,0,0,44720,0,0,0,26132,0,0,10,39684,0,0,0,53392,0,0,0,5768,0,0,5,1111964,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092568-G-A,17,43092568,rs397507206,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser988Leu,p.Ser988Leu,c.2963C>T,missense_variant,Conflicting interpretations of pathogenicity,37494,,6,780732,0.000007685095525737385,0,0,nfe,0.0000045,8.93,0.449,0.00,0.0100,3.18,0.0800,0.302,0,59110,0,0,1,58998,0,0,0,24448,0,0,0,41252,0,0,0,63688,0,0,0,4460,0,0,5,418090,0,0,0,912,0,0,0,74592,0,0,0,35182,0,0 -17-43092571-T-C,17,43092571,rs876659990,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys987Arg,p.Lys987Arg,c.2960A>G,missense_variant,Conflicting interpretations of pathogenicity,232789,,13,1461798,0.000008893157604539068,0,0,nfe,0.00000652,0.00100,0.183,0.00,0.0200,-1.20,1.00,0.00,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,13,1111982,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092571-T-A,17,43092571,rs876659990,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys987Met,p.Lys987Met,c.2960A>T,missense_variant,,,,1,1461798,6.840890465030052e-7,0,0,,,0.0820,0.413,0.00,0.0100,-1.20,0.0700,0.0450,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092581-A-G,17,43092581,rs1597866542,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe984Leu,p.Phe984Leu,c.2950T>C,missense_variant,Conflicting interpretations of pathogenicity,822349,,2,1461816,0.0000013681612460118099,0,0,sas,0.00000385,17.3,0.289,0.0100,0.00,2.20,0.0200,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53400,0,0,0,5768,0,0,0,1111984,0,0,,,,,2,86252,0,0,0,60392,0,0 -17-43092588-T-A,17,43092588,rs587780799,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro981Pro,p.Pro981Pro,c.2943A>T,synonymous_variant,Likely benign,136083,,6,1613948,0.0000037175918926756003,0,0,nfe,0.0000012399999999999998,7.81,,0.00,0.00,0.147,,,0,74914,0,0,0,59984,0,0,0,29604,0,0,0,44878,0,0,0,64012,0,0,0,6084,0,0,5,1180002,0,0,0,912,0,0,0,91076,0,0,1,62482,0,0 -17-43092589-G-A,17,43092589,rs876659025,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro981Leu,p.Pro981Leu,c.2942C>T,missense_variant,,,,1,152052,0.0000065766974456107125,0,0,,,23.0,0.326,0.00,0.0100,3.16,0.0400,0.889,1,41428,0,0,0,15232,0,0,0,3468,0,0,0,5198,0,0,0,10574,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4814,0,0,0,2090,0,0 -17-43092590-G-T,17,43092590,rs1555588677,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro981Thr,p.Pro981Thr,c.2941C>A,missense_variant,Conflicting interpretations of pathogenicity,531238,,2,833100,0.0000024006721882126994,0,0,nfe,4.4e-7,16.3,0.386,0.00,0.0100,2.00,0.0800,0.540,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092593-T-G,17,43092593,rs2154351490,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile980Leu,p.Ile980Leu,c.2938A>C,missense_variant,,,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,10.2,0.299,0.0200,0.0100,0.288,0.280,0.119,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092593-T-C,17,43092593,rs2154351490,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile980Val,p.Ile980Val,c.2938A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,6.15,0.296,0.0100,0.00,0.288,0.770,0.119,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092595-C-T,17,43092595,rs80356985,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg979His,p.Arg979His,c.2936G>A,missense_variant,Conflicting interpretations of pathogenicity,54728,,12,1613814,0.000007435801151805598,0,0,afr,0.00001747,1.53,0.235,0.00,0.0200,-0.401,1.00,0.00,4,74872,0,0,0,59964,0,0,0,29602,0,0,1,44870,0,0,3,63980,0,0,0,6082,0,0,4,1179978,0,0,0,912,0,0,0,91072,0,0,0,62482,0,0 -17-43092596-G-A,17,43092596,rs80356970,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg979Cys,p.Arg979Cys,c.2935C>T,missense_variant,Likely benign,54727,,19,1613858,0.000011773030836665927,0,0,afr,0.00001747,19.4,0.289,0.00,0.0100,2.15,0.110,0.00,4,74886,0,0,1,59966,0,0,0,29602,0,0,0,44882,0,0,0,63992,0,0,2,6084,0,0,10,1179980,0,0,0,912,0,0,0,91072,0,0,2,62482,0,0 -17-43092597-A-C,17,43092597,rs80357115,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978Ter,p.Tyr978Ter,c.2934T>G,stop_gained,Pathogenic,37493,lof_flag,1,628726,0.0000015905179680814854,0,0,,,32.0,,0.00,0.0400,1.01,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53134,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092598-T-C,17,43092598,rs863224756,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978Cys,p.Tyr978Cys,c.2933A>G,missense_variant,Conflicting interpretations of pathogenicity,216659,,5,1461830,0.000003420370357702332,0,0,,,13.1,0.451,0.0100,0.00,0.157,0.160,0.160,0,33480,0,0,0,44722,0,0,1,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111988,0,0,,,,,1,86254,0,0,2,60394,0,0 -17-43092599-A-G,17,43092599,rs876659545,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978His,p.Tyr978His,c.2932T>C,missense_variant,Conflicting interpretations of pathogenicity,232085,,1,628722,0.0000015905280871354907,0,0,,,7.17,0.284,0.0100,0.00,0.667,0.520,0.199,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53130,0,0,1,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092600-T-C,17,43092600,rs273899691,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Pro,p.Pro977Pro,c.2931A>G,synonymous_variant,Likely benign,54725,,13,1461822,0.00000889301159785528,0,0,amr,0.00008861999999999996,0.857,,0.00,0.0100,-3.40,,,0,33480,0,0,8,44722,0,0,0,26132,0,0,4,39686,0,0,0,53404,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092600-T-A,17,43092600,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Pro,p.Pro977Pro,c.2931A>T,synonymous_variant,,,,2,1461822,0.0000013681556304392737,0,0,sas,0.00000385,0.683,,0.00,0.00,-3.40,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5768,0,0,0,1111982,0,0,,,,,2,86254,0,0,0,60394,0,0 -17-43092601-G-A,17,43092601,rs141465583,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro977Leu,p.Pro977Leu,c.2930C>T,missense_variant,Conflicting interpretations of pathogenicity,409337,,3,780756,0.000003842429645113198,0,0,nfe,0.0000019100000000000003,8.34,0.540,0.00,0.00,1.10,0.0900,0.434,0,59096,0,0,0,58984,0,0,0,24448,0,0,0,41242,0,0,0,63724,0,0,0,4464,0,0,3,418104,0,0,0,910,0,0,0,74600,0,0,0,35184,0,0 -17-43092602-G-A,17,43092602,rs1064794043,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Ser,p.Pro977Ser,c.2929C>T,missense_variant,Conflicting interpretations of pathogenicity,419688,,1,628714,0.0000015905483256297776,0,0,,,8.41,0.448,0.00,0.00,1.10,0.290,0.456,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092607-T-G,17,43092607,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Pro,p.Gln975Pro,c.2924A>C,missense_variant,,,,1,1461822,6.840778152196368e-7,0,0,,,19.5,0.601,0.00,0.00,0.140,0.0200,0.219,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,1,53406,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092607-T-C,17,43092607,rs2154352222,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Arg,p.Gln975Arg,c.2924A>G,missense_variant,Conflicting interpretations of pathogenicity,2113266,,1,1461822,6.840778152196368e-7,0,0,,,19.6,0.571,0.00,0.0100,0.140,0.140,0.457,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092608-G-T,17,43092608,rs80357497,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Lys,p.Gln975Lys,c.2923C>A,missense_variant,Conflicting interpretations of pathogenicity,1478400,,1,833092,0.0000012003476206709464,0,0,,,18.7,0.493,0.00,0.00,1.88,0.0400,0.457,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761886,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43092611-A-G,17,43092611,rs763845063,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu974Leu,p.Leu974Leu,c.2920T>C,synonymous_variant,Likely benign,186738,,8,1613972,0.000004956715482052972,0,0,afr,0.00000443,4.63,,0.00,0.00,0.697,,,2,74912,0,0,0,59986,0,0,0,29602,0,0,0,44880,0,0,0,64018,0,0,1,6084,0,0,4,1180014,0,0,0,912,0,0,0,91078,0,0,1,62486,0,0 -17-43092615-TC-T,17,43092615,rs80357573,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly972AspfsTer28,p.Gly972AspfsTer28,c.2915del,frameshift_variant,Pathogenic,54716,lof_flag,1,833098,0.0000012003389757267452,0,0,,,20.5,,0.00,0.0500,0.205,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43092616-C-T,17,43092616,rs587782721,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly972Glu,p.Gly972Glu,c.2915G>A,missense_variant,Conflicting interpretations of pathogenicity,142793,,1,833104,0.0000012003303309070656,0,0,,,7.61,0.411,0.00,0.0100,0.647,0.160,0.759,0,15784,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092617-CAT-C,17,43092617,rs878854940,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971ArgfsTer20,p.His971ArgfsTer20,c.2912_2913del,frameshift_variant,Pathogenic,240783,lof_flag,1,628722,0.0000015905280871354907,0,0,,,22.7,,0.00,0.0100,0.423,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092618-A-G,17,43092618,rs786203804,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971His,p.His971His,c.2913T>C,synonymous_variant,Likely benign,187531,,11,1461834,0.0000075247941968787154,0,0,nfe,0.00000455,5.22,,0.00,0.00,-0.0720,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53408,0,0,0,5768,0,0,10,1111988,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43092620-GTTTA-G,17,43092620,,GTTTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys970MetfsTer29,p.Lys970MetfsTer29,c.2907_2910del,frameshift_variant,,,lof_flag,1,1461830,6.840740715404664e-7,0,0,,,23.0,,0.00,0.0100,0.415,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092620-G-C,17,43092620,rs80357478,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971Asp,p.His971Asp,c.2911C>G,missense_variant,Conflicting interpretations of pathogenicity,431233,,2,1461830,0.0000013681481430809329,0,0,,,8.85,0.401,0.00,0.0100,0.415,0.170,0.491,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092621-T-C,17,43092621,rs431825394,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys970Lys,p.Lys970Lys,c.2910A>G,synonymous_variant,Likely benign,234141,,4,1461830,0.0000027362962861618657,0,0,nfe,8.4e-7,4.93,,0.00,0.00,1.38,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,4,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092621-T-G,17,43092621,rs431825394,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys970Asn,p.Lys970Asn,c.2910A>C,missense_variant,Conflicting interpretations of pathogenicity,96910,,3,1613940,0.0000018588051600431243,0,0,nfe,6.800000000000001e-7,10.8,0.262,0.00,0.00,1.38,0.200,0.378,0,74898,0,0,0,59974,0,0,0,29600,0,0,0,44882,0,0,0,64028,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91078,0,0,0,62486,0,0 -17-43092622-T-C,17,43092622,rs756559408,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys970Arg,p.Lys970Arg,c.2909A>G,missense_variant,Conflicting interpretations of pathogenicity,647254,,1,152094,0.000006574881323392112,0,0,,,17.4,0.546,0.00,0.0100,1.74,0.0300,0.378,1,41404,0,0,0,15260,0,0,0,3470,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 -17-43092624-A-T,17,43092624,rs2053674031,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn969Lys,p.Asn969Lys,c.2907T>A,missense_variant,Conflicting interpretations of pathogenicity,1015821,,1,833104,0.0000012003303309070656,0,0,,,17.4,0.356,0.00,0.0100,1.07,0.0400,0.589,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092626-T-C,17,43092626,rs587781641,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn969Asp,p.Asn969Asp,c.2905A>G,missense_variant,Conflicting interpretations of pathogenicity,141301,,3,1461832,0.0000020522194068812284,0,0,nfe,7.200000000000001e-7,0.834,0.195,0.00,0.00,-0.0960,0.760,0.0290,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53408,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092629-G-A,17,43092629,rs1182090591,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro968Ser,p.Pro968Ser,c.2902C>T,missense_variant,Conflicting interpretations of pathogenicity,856943,,2,628718,0.000003181076412636508,0,0,amr,0.000007580000000000001,0.168,0.378,0.00,0.00,0.630,0.250,0.00100,0,17694,0,0,2,43740,0,0,0,20980,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43092630-A-G,17,43092630,rs2154353519,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr967Thr,p.Thr967Thr,c.2901T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,2.94,,0.00,0.0200,-0.422,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092631-G-A,17,43092631,rs1249532992,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr967Ile,p.Thr967Ile,c.2900C>T,missense_variant,Conflicting interpretations of pathogenicity,821968,,2,1461826,0.0000013681518867498595,0,0,,,0.817,0.408,0.00,0.0100,0.391,0.540,0.00600,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092633-A-G,17,43092633,rs786202249,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile966Ile,p.Ile966Ile,c.2898T>C,synonymous_variant,Likely benign,185526,,1,628728,0.0000015905129086027663,0,0,,,3.07,,0.00,0.00,0.274,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53140,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092634-A-G,17,43092634,rs879254045,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile966Thr,p.Ile966Thr,c.2897T>C,missense_variant,Conflicting interpretations of pathogenicity,246006,,4,985258,0.000004059850313318948,0,0,afr,0.00001391,7.34,0.415,0.00,0.00,0.992,0.220,0.0600,3,57218,0,0,0,16250,0,0,0,8620,0,0,0,8826,0,0,0,10892,0,0,0,1936,0,0,1,829926,0,0,0,912,0,0,0,21288,0,0,0,29390,0,0 -17-43092636-G-A,17,43092636,rs1555588774,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu965Leu,p.Leu965Leu,c.2895C>T,synonymous_variant,Likely benign,481443,,1,1461824,6.840768792960028e-7,0,0,,,1.43,,0.00,0.00,0.942,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092636-G-C,17,43092636,rs1555588774,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu965Leu,p.Leu965Leu,c.2895C>G,synonymous_variant,,,,2,1461824,0.0000013681537585920056,0,0,nfe,2.999999999999999e-7,1.19,,0.00,0.00,0.942,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092639-T-C,17,43092639,rs1060504553,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Gly,p.Gly964Gly,c.2892A>G,synonymous_variant,Likely benign,415546,,1,628720,0.0000015905331467107776,0,0,,,1.91,,0.00,0.0200,0.357,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092640-C-T,17,43092640,rs1597866960,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Glu,p.Gly964Glu,c.2891G>A,missense_variant,Conflicting interpretations of pathogenicity,821951,,1,628718,0.000001590538206318254,0,0,,,0.144,0.329,0.00,0.00,0.566,1.00,0.00100,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53138,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43092641-C-T,17,43092641,rs879254027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Arg,p.Gly964Arg,c.2890G>A,missense_variant,Conflicting interpretations of pathogenicity,245974,,1,628720,0.0000015905331467107776,0,0,,,17.9,0.468,0.00,0.00,3.49,0.0200,0.296,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092643-G-A,17,43092643,rs730881443,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr963Ile,p.Thr963Ile,c.2888C>T,missense_variant,Conflicting interpretations of pathogenicity,182077,,2,1461830,0.0000013681481430809329,0,0,,,16.4,0.517,0.00,0.00,1.69,0.0100,0.378,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53410,0,0,0,5768,0,0,0,1111980,0,0,,,,,1,86254,0,0,0,60394,0,0 -17-43092643-GT-G,17,43092643,rs80357559,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr963LeufsTer37,p.Thr963LeufsTer37,c.2887del,frameshift_variant,Pathogenic,54710,lof_flag,1,1461830,6.840740715404664e-7,0,0,,,22.1,,0.00,0.00,1.69,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53410,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092646-T-C,17,43092646,rs780367532,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu962Gly,p.Glu962Gly,c.2885A>G,missense_variant,Conflicting interpretations of pathogenicity,574001,,2,780910,0.000002561114597072646,0,0,,,23.3,0.523,0.00,0.00,4.57,0.00,0.718,0,59146,0,0,0,58998,0,0,0,24448,0,0,0,41260,0,0,0,63768,0,0,0,4464,0,0,2,418106,0,0,0,912,0,0,0,74618,0,0,0,35190,0,0 -17-43092647-C-T,17,43092647,rs80356955,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu962Lys,p.Glu962Lys,c.2884G>A,missense_variant,Benign,54709,,35,1613898,0.000021686624557437955,0,0,nfe,0.00001724,6.99,0.428,0.00,0.00,0.783,0.170,0.474,2,74886,0,0,0,59974,0,0,0,29604,0,0,0,44882,0,0,0,64000,0,0,0,6084,0,0,29,1179996,0,0,0,912,0,0,4,91072,0,0,0,62488,0,0 -17-43092648-G-A,17,43092648,rs201190540,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn961Asn,p.Asn961Asn,c.2883C>T,synonymous_variant,Likely benign,184402,,24,1613830,0.000014871454862036273,0,0,afr,0.00006240999999999998,0.127,,0.00,0.00,-2.50,,,9,74834,0,0,0,59966,0,0,0,29602,0,0,0,44878,0,0,0,64000,0,0,0,6084,0,0,15,1179986,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 -17-43092649-T-C,17,43092649,rs879254130,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn961Ser,p.Asn961Ser,c.2882A>G,missense_variant,Conflicting interpretations of pathogenicity,246160,,20,985270,0.000020299004333837424,0,0,nfe,0.000014639999999999999,0.144,0.258,0.00,0.00,-1.52,0.340,0.0500,1,57212,0,0,0,16246,0,0,0,8622,0,0,0,8832,0,0,0,10894,0,0,0,1936,0,0,19,829936,0,0,0,910,0,0,0,21290,0,0,0,29392,0,0 -17-43092653-C-T,17,43092653,rs1555588796,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly960Ser,p.Gly960Ser,c.2878G>A,missense_variant,Conflicting interpretations of pathogenicity,481478,,1,1461832,6.840731356270762e-7,0,0,,,8.82,0.406,0.00,0.00,1.56,0.250,0.531,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,0,1111980,0,0,,,,,1,86252,0,0,0,60394,0,0 -17-43092653-C-A,17,43092653,rs1555588796,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly960Cys,p.Gly960Cys,c.2878G>T,missense_variant,,,,1,1461832,6.840731356270762e-7,0,0,,,19.8,0.482,0.00,0.00,1.56,0.00,0.906,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43092654-T-C,17,43092654,rs587782743,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Arg,p.Arg959Arg,c.2877A>G,synonymous_variant,Likely benign,485386,,2,1461834,0.0000013681443994324936,0,0,nfe,2.999999999999999e-7,5.95,,0.00,0.00,1.04,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092655-C-T,17,43092655,rs779153035,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Lys,p.Arg959Lys,c.2876G>A,missense_variant,,,,3,1461832,0.0000020522194068812284,0,0,,,8.64,0.534,0.00,0.00,2.44,0.120,0.759,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,1,1111980,0,0,,,,,1,86254,0,0,1,60394,0,0 -17-43092656-T-C,17,43092656,rs1401324575,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Gly,p.Arg959Gly,c.2875A>G,missense_variant,Conflicting interpretations of pathogenicity,821939,,1,628724,0.0000015905230275923935,0,0,,,9.48,0.435,0.00,0.00,0.321,0.170,0.631,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092657-G-A,17,43092657,rs1029207537,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe958Phe,p.Phe958Phe,c.2874C>T,synonymous_variant,Likely benign,380259,,6,1613904,0.0000037176932456949113,0,0,afr,0.00003472999999999999,1.15,,0.00,0.00,0.0440,,,6,74878,0,0,0,59974,0,0,0,29600,0,0,0,44884,0,0,0,64026,0,0,0,6084,0,0,0,1179992,0,0,0,912,0,0,0,91070,0,0,0,62484,0,0 -17-43092660-C-T,17,43092660,rs1167322579,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln957Gln,p.Gln957Gln,c.2871G>A,synonymous_variant,Likely benign,1797057,,1,152096,0.000006574794866400168,0,0,,,0.571,,0.00,0.00,0.157,,,0,41420,0,0,0,15242,0,0,0,3472,0,0,1,5186,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2086,0,0 -17-43092664-G-C,17,43092664,rs1060502336,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser956Cys,p.Ser956Cys,c.2867C>G,missense_variant,Conflicting interpretations of pathogenicity,409320,,1,152150,0.000006572461386789352,0,0,,,12.3,0.466,0.00,0.00,1.18,0.00,0.908,0,41422,0,0,0,15254,0,0,0,3470,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 -17-43092665-A-G,17,43092665,rs1468065357,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser956Pro,p.Ser956Pro,c.2866T>C,missense_variant,Conflicting interpretations of pathogenicity,2130530,,1,152146,0.0000065726341803267915,0,0,,,10.9,0.490,0.00,0.00,0.704,0.0900,0.737,0,41426,0,0,0,15252,0,0,0,3472,0,0,1,5198,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43092666-T-C,17,43092666,rs748285767,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser955Ser,p.Ser955Ser,c.2865A>G,synonymous_variant,Likely benign,427320,,1,833110,0.0000012003216862119048,0,0,,,5.11,,0.00,0.00,-0.0990,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092667-G-T,17,43092667,rs80357295,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser955Ter,p.Ser955Ter,c.2864C>A,stop_gained,Pathogenic,54701,lof_flag,2,833110,0.0000024006433724238097,0,0,,,34.0,,0.00,0.00,4.03,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092669-T-C,17,43092669,rs559190752,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2862A>G,synonymous_variant,Likely benign,184697,,28,1614126,0.00001734684900683094,0,0,afr,0.00009200999999999998,0.477,,0.00,0.00,-1.10,,,12,75032,0,0,2,60010,0,0,0,29604,0,0,0,44870,0,0,0,64036,0,0,0,6062,0,0,11,1180012,0,0,0,912,0,0,2,91080,0,0,1,62508,0,0 -17-43092669-T-G,17,43092669,rs559190752,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2862A>C,synonymous_variant,Likely benign,185356,,3,1461832,0.0000020522194068812284,0,0,,,0.408,,0.00,0.00,-1.10,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,3,53410,0,0,0,5768,0,0,0,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092670-AG-A,17,43092670,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu954TyrfsTer46,p.Leu954TyrfsTer46,c.2860del,frameshift_variant,,,lof_flag,1,628724,0.0000015905230275923935,0,0,,,22.3,,0.00,0.00,0.0390,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53134,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092671-G-A,17,43092671,rs730881452,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2860C>T,synonymous_variant,Likely benign,182093,,22,1613926,0.00001363135608447971,0,0,nfe,0.00001107,2.46,,0.00,0.00,2.75,,,1,74882,0,0,0,59980,0,0,0,29604,0,0,0,44880,0,0,0,64010,0,0,0,6084,0,0,20,1180010,0,0,0,912,0,0,0,91082,0,0,1,62482,0,0 -17-43092677-A-T,17,43092677,rs1295122328,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe952Ile,p.Phe952Ile,c.2854T>A,missense_variant,,,,1,628722,0.0000015905280871354907,0,0,,,7.97,0.286,0.00,0.00,1.50,0.0900,0.0120,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53130,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092680-T-G,17,43092680,rs1347533994,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg951Arg,p.Arg951Arg,c.2851A>C,synonymous_variant,Likely benign,491054,,1,628722,0.0000015905280871354907,0,0,,,2.58,,0.00,0.0100,-1.27,,,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092680-T-C,17,43092680,rs1347533994,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg951Gly,p.Arg951Gly,c.2851A>G,missense_variant,Conflicting interpretations of pathogenicity,649341,,3,152208,0.000019709870703248187,0,0,afr,0.00001919,5.91,0.412,0.00,0.00,-1.27,,,3,41460,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10626,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 -17-43092682-G-A,17,43092682,rs1555588847,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser950Phe,p.Ser950Phe,c.2849C>T,missense_variant,Conflicting interpretations of pathogenicity,462595,,1,628720,0.0000015905331467107776,0,0,,,22.3,0.461,0.00,0.00,4.08,0.00,0.616,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092684-G-A,17,43092684,rs1555588850,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly949Gly,p.Gly949Gly,c.2847C>T,synonymous_variant,Likely benign,491053,,1,833106,0.0000012003274493281767,0,0,,,0.589,,0.00,0.00,0.150,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092686-C-T,17,43092686,rs1324818767,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly949Ser,p.Gly949Ser,c.2845G>A,missense_variant,Conflicting interpretations of pathogenicity,579135,,1,628726,0.0000015905179680814854,0,0,,,6.85,0.497,0.00,0.00,1.12,0.230,0.155,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53136,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092690-T-A,17,43092690,rs864622618,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys947Asn,p.Lys947Asn,c.2841A>T,missense_variant,Conflicting interpretations of pathogenicity,220648,,3,1461836,0.0000020522137914239355,0,0,nfe,7.200000000000001e-7,19.3,0.400,0.00,0.00,1.06,0.0500,0.694,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092691-T-C,17,43092691,rs778118145,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys947Arg,p.Lys947Arg,c.2840A>G,missense_variant,Conflicting interpretations of pathogenicity,481455,,1,628722,0.0000015905280871354907,0,0,,,8.44,0.385,0.00,0.00,0.740,0.120,0.142,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092693-GAT-G,17,43092693,rs397509016,GAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile946GlnfsTer5,p.Ile946GlnfsTer5,c.2836_2837del,frameshift_variant,Pathogenic,54696,lof_flag,3,628724,0.00000477156908277718,0,0,nfe,0.00000228,20.5,,0.00,0.00,-1.06,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,3,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092694-ATAC-A,17,43092694,rs80358332,ATAC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser945del,p.Ser945del,c.2834_2836del,inframe_deletion,Uncertain significance,54693,,2,780858,0.0000025612851504370835,0,0,,,3.63,,0.00,0.00,-0.718,,,1,59118,0,0,0,58992,0,0,0,24452,0,0,0,41262,0,0,0,63744,0,0,0,4464,0,0,1,418104,0,0,0,912,0,0,0,74626,0,0,0,35184,0,0 -17-43092695-T-A,17,43092695,rs876660901,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile946Phe,p.Ile946Phe,c.2836A>T,missense_variant,Conflicting interpretations of pathogenicity,234176,,1,628716,0.0000015905432659579206,0,0,,,6.18,0.405,0.00,0.00,-4.18,0.0500,0.209,0,17690,0,0,1,43740,0,0,0,20980,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092697-C-G,17,43092697,rs746727823,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser945Thr,p.Ser945Thr,c.2834G>C,missense_variant,Uncertain significance,2445711,,3,628724,0.00000477156908277718,0,0,nfe,0.00000228,10.2,0.391,0.00,0.00,0.870,0.0500,0.525,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53134,0,0,0,4148,0,0,3,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092700-C-T,17,43092700,rs770769275,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys944Tyr,p.Cys944Tyr,c.2831G>A,missense_variant,Conflicting interpretations of pathogenicity,230809,,3,628726,0.000004771553904244456,0,0,sas,0.00000476,0.289,0.363,0.00,0.00,-0.677,0.360,0.00700,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53134,0,0,0,4148,0,0,1,350082,0,0,,,,,2,69794,0,0,0,33096,0,0 -17-43092701-A-T,17,43092701,rs1064795603,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys944Ser,p.Cys944Ser,c.2830T>A,missense_variant,Conflicting interpretations of pathogenicity,422172,,2,628732,0.0000031810055794837864,0,0,nfe,9.5e-7,0.875,0.395,0.00,0.00,-0.426,0.180,0.0440,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53138,0,0,0,4148,0,0,2,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092706-G-C,17,43092706,rs2154357624,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala942Gly,p.Ala942Gly,c.2825C>G,missense_variant,,,,1,628722,0.0000015905280871354907,0,0,,,15.5,0.504,0.00,0.00,1.26,0.0200,0.248,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092708-A-C,17,43092708,rs1465630651,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Lys,p.Asn941Lys,c.2823T>G,missense_variant,Conflicting interpretations of pathogenicity,661501,,1,628732,0.0000015905027897418932,0,0,,,9.86,0.256,0.00,0.00,0.530,0.360,0.140,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092708-A-G,17,43092708,rs1465630651,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Asn,p.Asn941Asn,c.2823T>C,synonymous_variant,Likely benign,792532,,1,628732,0.0000015905027897418932,0,0,,,4.12,,0.00,0.00,0.530,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092709-T-C,17,43092709,rs776512377,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Ser,p.Asn941Ser,c.2822A>G,missense_variant,Conflicting interpretations of pathogenicity,485402,,1,1461838,6.84070327902271e-7,0,0,,,0.349,0.234,0.00,0.00,-0.792,0.450,0.0200,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,0,1111988,0,0,,,,,1,86254,0,0,0,60394,0,0 -17-43092709-T-G,17,43092709,rs776512377,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn941Thr,p.Asn941Thr,c.2822A>C,missense_variant,Conflicting interpretations of pathogenicity,952178,,2,1614046,0.0000012391220572400042,0,0,,,1.03,0.319,0.00,0.00,-0.792,0.430,0.0200,0,74932,0,0,0,59984,0,0,0,29600,0,0,0,44898,0,0,0,64040,0,0,0,6084,0,0,2,1180020,0,0,0,912,0,0,0,91090,0,0,0,62486,0,0 -17-43092711-A-G,17,43092711,rs1414992991,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp940Asp,p.Asp940Asp,c.2820T>C,synonymous_variant,Likely benign,1677194,,1,152212,0.000006569784248285286,0,0,,,0.922,,0.00,0.00,-1.05,,,0,41458,0,0,1,15272,0,0,0,3468,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43092712-T-C,17,43092712,rs745954644,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp940Gly,p.Asp940Gly,c.2819A>G,missense_variant,Conflicting interpretations of pathogenicity,928128,,4,985322,0.00000405958661229527,0,0,nfe,9.6e-7,14.8,0.457,0.00,0.0100,0.450,0.0800,0.380,1,57256,0,0,0,16246,0,0,0,8624,0,0,0,8834,0,0,0,10900,0,0,0,1936,0,0,3,829934,0,0,0,912,0,0,0,21290,0,0,0,29390,0,0 -17-43092716-C-T,17,43092716,rs1555588896,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val939Ile,p.Val939Ile,c.2815G>A,missense_variant,Conflicting interpretations of pathogenicity,462594,,1,833110,0.0000012003216862119048,0,0,,,11.0,0.232,0.00,0.00,0.417,0.110,0.425,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092717-T-C,17,43092717,rs80356851,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro938Pro,p.Pro938Pro,c.2814A>G,synonymous_variant,Benign,54688,,543,1614178,0.0003363941275373596,1,0,afr,0.0056786000000000015,5.77,,0.00,0.00,-1.40,,,461,75062,1,0,34,60008,0,0,0,29604,0,0,0,44882,0,0,0,64034,0,0,1,6062,0,0,6,1180020,0,0,0,910,0,0,1,91088,0,0,40,62508,0,0 -17-43092717-T-G,17,43092717,rs80356851,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro938Pro,p.Pro938Pro,c.2814A>C,synonymous_variant,Likely benign,496359,,1,1461838,6.84070327902271e-7,0,0,,,5.42,,0.00,0.00,-1.40,,,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53408,0,0,0,5768,0,0,0,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092718-G-A,17,43092718,rs1064793999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro938Leu,p.Pro938Leu,c.2813C>T,missense_variant,Conflicting interpretations of pathogenicity,419626,,1,628728,0.0000015905129086027663,0,0,,,9.49,0.303,0.00,0.00,0.256,0.130,0.348,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36062,0,0,0,53134,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092720-C-T,17,43092720,rs876659271,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys937Lys,p.Lys937Lys,c.2811G>A,synonymous_variant,Likely benign,231630,,4,780908,0.000005122242312794849,0,0,nfe,0.0000019100000000000003,3.69,,0.00,0.00,0.0860,,,0,59144,0,0,0,59014,0,0,0,24452,0,0,0,41258,0,0,0,63750,0,0,0,4464,0,0,3,418098,0,0,0,912,0,0,1,74626,0,0,0,35190,0,0 -17-43092721-T-G,17,43092721,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys937Thr,p.Lys937Thr,c.2810A>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.9,0.454,0.00,0.00,0.174,0.0300,0.386,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092722-T-A,17,43092722,rs1555588915,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys937Ter,p.Lys937Ter,c.2809A>T,stop_gained,Pathogenic,438921,lof_flag,1,628728,0.0000015905129086027663,0,0,,,33.0,,0.00,0.00,-0.199,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43092723-A-C,17,43092723,rs730881485,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp936Glu,p.Asp936Glu,c.2808T>G,missense_variant,Conflicting interpretations of pathogenicity,182149,,11,1614032,0.000006815230429136473,0,0,nfe,0.000005,4.33,0.408,0.00,0.00,-1.19,0.530,0.0200,0,74920,0,0,0,59994,0,0,0,29600,0,0,0,44894,0,0,0,64030,0,0,0,6084,0,0,11,1180022,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43092723-A-G,17,43092723,rs730881485,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp936Asp,p.Asp936Asp,c.2808T>C,synonymous_variant,,,,1,152198,0.000006570388572780194,0,0,,,3.93,,0.00,0.00,-1.19,,,0,41442,0,0,0,15270,0,0,0,3468,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,1,4834,0,0,0,2094,0,0 -17-43092724-T-G,17,43092724,rs1377019132,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp936Ala,p.Asp936Ala,c.2807A>C,missense_variant,,,,2,628728,0.0000031810258172055326,0,0,sas,0.00000476,19.4,0.439,0.00,0.00,0.416,0.0400,0.0600,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,350080,0,0,,,,,2,69794,0,0,0,33096,0,0 -17-43092725-C-CT,17,43092725,rs397509012,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp936ArgfsTer2,p.Asp936ArgfsTer2,c.2805dup,frameshift_variant,Pathogenic,236269,lof_flag,1,833108,0.0000012003245677631232,0,0,,,24.4,,0.00,0.00,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092728-T-G,17,43092728,rs1302678544,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys935Gln,p.Lys935Gln,c.2803A>C,missense_variant,Uncertain significance,2565348,,4,1614042,0.00000247825025618912,0,0,afr,0.00001063,13.4,0.555,0.00,0.00,-0.440,0.0800,0.199,3,74934,0,0,0,59994,0,0,0,29604,0,0,0,44896,0,0,0,64032,0,0,0,6084,0,0,0,1180010,0,0,0,912,0,0,0,91088,0,0,1,62488,0,0 -17-43092731-GACCA-G,17,43092731,rs80357840,GACCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933ArgfsTer66,p.Gly933ArgfsTer66,c.2796_2799del,frameshift_variant,Pathogenic,54681,lof_flag,1,628698,0.0000015905888041635253,0,0,,,26.0,,0.00,0.00,3.47,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36062,0,0,0,53122,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69784,0,0,0,33094,0,0 -17-43092731-G-A,17,43092731,rs80357223,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln934Ter,p.Gln934Ter,c.2800C>T,stop_gained,Pathogenic,54683,lof_flag,2,628698,0.0000031811776083270507,0,0,eas,0.00000919,35.0,,0.00,0.00,3.47,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,2,36062,0,0,0,53122,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69784,0,0,0,33094,0,0 -17-43092733-C-G,17,43092733,rs80356941,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933Ala,p.Gly933Ala,c.2798G>C,missense_variant,Benign,233288,,2,1461816,0.0000013681612460118099,0,0,nfe,2.999999999999999e-7,6.13,0.316,0.00,0.00,0.558,0.220,0.0150,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,2,1111972,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092733-C-T,17,43092733,rs80356941,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933Asp,p.Gly933Asp,c.2798G>A,missense_variant,Conflicting interpretations of pathogenicity,37490,,24,1461816,0.00001641793495214172,0,0,nfe,0.000014599999999999999,7.48,0.289,0.00,0.00,0.558,0.180,0.00300,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,24,1111972,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092737-C-T,17,43092737,rs762589415,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val932Ile,p.Val932Ile,c.2794G>A,missense_variant,,,,1,628714,0.0000015905483256297776,0,0,,,4.20,0.424,0.00,0.00,0.226,0.250,0.0710,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53126,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092740-C-T,17,43092740,rs763639161,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val931Met,p.Val931Met,c.2791G>A,missense_variant,Conflicting interpretations of pathogenicity,630796,,1,1461818,6.84079687074588e-7,0,0,,,5.82,0.335,0.00,0.00,0.333,0.0800,0.292,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53396,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092740-C-A,17,43092740,rs763639161,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val931Leu,p.Val931Leu,c.2791G>T,missense_variant,Conflicting interpretations of pathogenicity,219899,,7,1461818,0.000004788557809522115,0,0,nfe,0.0000026200000000000003,3.00,0.467,0.00,0.00,0.333,0.230,0.120,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53396,0,0,0,5768,0,0,7,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43092742-G-A,17,43092742,rs80357256,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro930Leu,p.Pro930Leu,c.2789C>T,missense_variant,Conflicting interpretations of pathogenicity,54680,,4,1461810,0.0000027363337232608887,0,0,nfe,7.200000000000001e-7,17.1,0.402,0.00,0.00,2.84,0.0400,0.0750,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53392,0,0,0,5768,0,0,3,1111978,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092747-G-C,17,43092747,rs2154359643,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly928Gly,p.Gly928Gly,c.2784C>G,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.88,,0.00,0.00,0.275,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092748-C-T,17,43092748,rs202004680,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly928Asp,p.Gly928Asp,c.2783G>A,missense_variant,Conflicting interpretations of pathogenicity,41813,,9,1613966,0.000005576325647504346,0,0,nfe,0.0000035900000000000004,6.91,0.392,0.00,0.00,0.0340,0.150,0.327,0,74916,0,0,0,59988,0,0,0,29602,0,0,0,44886,0,0,0,64006,0,0,0,6084,0,0,9,1180004,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 -17-43092749-C-T,17,43092749,rs80356995,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly928Ser,p.Gly928Ser,c.2782G>A,missense_variant,Conflicting interpretations of pathogenicity,54679,,2,985264,0.000002029912794946329,0,0,,,5.41,0.425,0.00,0.00,0.972,0.120,0.812,0,57236,0,0,0,16240,0,0,0,8622,0,0,0,8826,0,0,0,10892,0,0,0,1936,0,0,1,829924,0,0,0,912,0,0,0,21284,0,0,1,29392,0,0 -17-43092753-AGT-A,17,43092753,rs886040070,AGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr926CysfsTer11,p.Thr926CysfsTer11,c.2776_2777del,frameshift_variant,Pathogenic,266301,lof_flag,1,833108,0.0000012003245677631232,0,0,,,16.9,,0.00,0.00,-0.434,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092755-T-C,17,43092755,rs2154360041,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr926Ala,p.Thr926Ala,c.2776A>G,missense_variant,Uncertain significance,2663975,,2,832786,0.0000024015773560074255,0,0,nfe,4.4e-7,0.975,0.459,0.00,0.00,-1.20,0.190,0.302,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,2,761606,0,0,,,,,0,16454,0,0,0,27290,0,0 -17-43092756-G-A,17,43092756,rs786201104,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Ile,p.Ile925Ile,c.2775C>T,synonymous_variant,Likely benign,183839,,3,1613908,0.000001858842015777851,0,0,,,0.672,,0.00,0.00,-0.0930,,,2,74904,0,0,0,59978,0,0,0,29604,0,0,0,44888,0,0,0,63976,0,0,0,6084,0,0,1,1179994,0,0,0,912,0,0,0,91080,0,0,0,62488,0,0 -17-43092758-T-C,17,43092758,rs4986847,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Val,p.Ile925Val,c.2773A>G,missense_variant,Conflicting interpretations of pathogenicity,185111,,36,1613994,0.000022304915631656624,0,0,nfe,0.00002154,0.590,0.186,0.00,0.00,-0.168,0.140,0.0290,1,74930,0,0,0,59976,0,0,0,29602,0,0,0,44894,0,0,0,64012,0,0,0,6084,0,0,35,1180008,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43092758-T-G,17,43092758,rs4986847,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Leu,p.Ile925Leu,c.2773A>C,missense_variant,Benign,37489,,76,1614112,0.00004708471283281458,0,0,afr,0.0006604900000000001,7.76,0.340,0.00,0.00,-0.168,0.0200,0.0380,62,75052,0,0,9,59996,0,0,0,29602,0,0,0,44882,0,0,0,64012,0,0,0,6062,0,0,0,1180000,0,0,0,912,0,0,1,91084,0,0,4,62510,0,0 -17-43092760-TTAAC-T,17,43092760,rs80357661,TTAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val923IlefsTer76,p.Val923IlefsTer76,c.2767_2770del,frameshift_variant,Pathogenic,54678,lof_flag,1,152164,0.000006571856680949502,0,0,,,17.1,,0.00,0.00,-1.78,,,0,41454,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10618,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43092761-T-C,17,43092761,rs760877199,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn924Asp,p.Asn924Asp,c.2770A>G,missense_variant,,,,1,628694,0.0000015905989241188878,0,0,,,0.185,0.316,0.00,0.00,0.0140,0.650,0.0120,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53110,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092764-CT-C,17,43092764,rs80357812,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val923LeufsTer77,p.Val923LeufsTer77,c.2766del,frameshift_variant,Pathogenic,54677,lof_flag,1,628692,0.0000015906039841448595,0,0,,,21.6,,0.00,0.00,-0.425,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43092764-C-T,17,43092764,rs1324340897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val923Ile,p.Val923Ile,c.2767G>A,missense_variant,Conflicting interpretations of pathogenicity,1426644,,2,628692,0.000003181207968289719,0,0,sas,0.00000476,0.418,0.434,0.00,0.00,-0.425,0.200,0.158,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,2,69794,0,0,0,33096,0,0 -17-43092765-T-C,17,43092765,rs2154360535,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr922Thr,p.Thr922Thr,c.2766A>G,synonymous_variant,,,,1,628702,0.0000015905786843369356,0,0,,,4.07,,0.00,0.0100,1.32,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53114,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43092766-G-C,17,43092766,rs80357460,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr922Arg,p.Thr922Arg,c.2765C>G,missense_variant,Conflicting interpretations of pathogenicity,54676,,4,1613908,0.000002478456021037135,0,0,nfe,7.899999999999998e-7,9.23,0.399,0.00,0.00,1.65,0.0100,0.449,0,74886,0,0,0,59994,0,0,0,29602,0,0,0,44890,0,0,0,63984,0,0,0,6084,0,0,4,1179992,0,0,0,912,0,0,0,91078,0,0,0,62486,0,0 -17-43092768-CT-C,17,43092768,rs80357703,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln921ArgfsTer79,p.Gln921ArgfsTer79,c.2762del,frameshift_variant,Pathogenic,54674,lof_flag,1,628682,0.0000015906292847576358,0,0,,,22.8,,0.00,0.0100,0.995,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53100,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43092772-A-G,17,43092772,rs80357008,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val920Ala,p.Val920Ala,c.2759T>C,missense_variant,Conflicting interpretations of pathogenicity,54672,,1,628684,0.0000015906242245706906,0,0,,,5.65,0.451,0.00,0.00,-0.573,0.0800,0.170,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350074,0,0,,,,,1,69792,0,0,0,33094,0,0 -17-43092773-C-A,17,43092773,rs80357361,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val920Leu,p.Val920Leu,c.2758G>T,missense_variant,Conflicting interpretations of pathogenicity,567742,,1,152152,0.000006572374993427625,0,0,,,0.574,0.404,0.00,0.00,0.00700,,,1,41440,0,0,0,15260,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43092773-C-T,17,43092773,rs80357361,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val920Ile,p.Val920Ile,c.2758G>A,missense_variant,Benign,37488,,12,1613942,0.00000743521142643292,0,0,amr,0.00003234,0.320,0.394,0.00,0.00,0.00700,0.160,0.340,0,74918,0,0,5,59984,0,0,4,29602,0,0,0,44888,0,0,0,63992,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 -17-43092774-A-G,17,43092774,rs755516286,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro919Pro,p.Pro919Pro,c.2757T>C,synonymous_variant,Likely benign,233831,,5,1613958,0.0000030979740488909873,0,0,eas,0.000029770000000000005,2.58,,0.00,0.00,-2.87,,,0,74916,0,0,0,59986,0,0,0,29604,0,0,4,44892,0,0,0,64004,0,0,0,6084,0,0,0,1179996,0,0,0,912,0,0,0,91080,0,0,1,62484,0,0 -17-43092776-G-T,17,43092776,rs2154361097,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro919Thr,p.Pro919Thr,c.2755C>A,missense_variant,,,,1,628672,0.0000015906545861753029,0,0,,,0.608,0.359,0.00,0.00,-0.00400,0.190,0.145,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53098,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33090,0,0 -17-43092777-C-T,17,43092777,rs398122668,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Lys,p.Lys918Lys,c.2754G>A,synonymous_variant,Likely benign,2450688,,1,1461786,6.84094662282988e-7,0,0,,,0.388,,0.00,0.00,-0.261,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39694,0,0,0,53380,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43092777-C-G,17,43092777,rs398122668,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Asn,p.Lys918Asn,c.2754G>C,missense_variant,,,,1,1461786,6.84094662282988e-7,0,0,,,6.36,0.313,0.00,0.00,-0.261,0.0400,0.100,0,33476,0,0,0,44722,0,0,0,26132,0,0,1,39694,0,0,0,53380,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43092779-T-G,17,43092779,rs397509010,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Gln,p.Lys918Gln,c.2752A>C,missense_variant,Conflicting interpretations of pathogenicity,54671,,7,833110,0.000008402251803483333,0,0,nfe,0.00000382,2.14,0.432,0.00,0.00,-0.752,0.100,0.213,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092781-A-C,17,43092781,rs587781492,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile917Ser,p.Ile917Ser,c.2750T>G,missense_variant,Conflicting interpretations of pathogenicity,216658,,1,1461756,6.841087021363347e-7,0,0,,,6.56,0.483,0.00,0.00,-0.560,0.130,0.236,0,33472,0,0,0,44720,0,0,0,26132,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86248,0,0,0,60388,0,0 -17-43092781-A-G,17,43092781,rs587781492,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile917Thr,p.Ile917Thr,c.2750T>C,missense_variant,Conflicting interpretations of pathogenicity,141097,,2,1613934,0.0000012392080469213735,0,0,,,4.46,0.546,0.00,0.00,-0.560,0.100,0.259,0,74920,0,0,0,59982,0,0,0,29602,0,0,2,44898,0,0,0,63988,0,0,0,6084,0,0,0,1179988,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 -17-43092784-T-A,17,43092784,rs864622588,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn916Ile,p.Asn916Ile,c.2747A>T,missense_variant,Conflicting interpretations of pathogenicity,220573,,5,1613926,0.0000030980354737453886,0,0,nfe,0.0000012399999999999998,18.1,0.310,0.00,0.00,1.72,0.0100,0.530,0,74928,0,0,0,59980,0,0,0,29604,0,0,0,44894,0,0,0,63992,0,0,0,6084,0,0,5,1179974,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 -17-43092785-T-C,17,43092785,rs398122666,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn916Asp,p.Asn916Asp,c.2746A>G,missense_variant,Conflicting interpretations of pathogenicity,482936,,1,628634,0.0000015907507389037182,0,0,,,7.59,0.211,0.00,0.00,-0.132,0.0400,0.0170,0,17684,0,0,0,43736,0,0,0,20978,0,0,0,36064,0,0,0,53104,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69782,0,0,0,33090,0,0 -17-43092789-C-T,17,43092789,rs961042365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu914Glu,p.Glu914Glu,c.2742G>A,synonymous_variant,Likely benign,389454,,3,780762,0.000003842400116808964,0,0,amr,0.00000562,1.04,,0.00,0.00,0.349,,,0,59112,0,0,2,58996,0,0,0,24446,0,0,0,41264,0,0,0,63712,0,0,0,4464,0,0,0,418062,0,0,0,912,0,0,1,74618,0,0,0,35176,0,0 -17-43092791-C-G,17,43092791,rs80357419,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu914Gln,p.Glu914Gln,c.2740G>C,missense_variant,Conflicting interpretations of pathogenicity,1409056,,2,1461680,0.0000013682885446883039,0,0,nfe,2.999999999999999e-7,10.9,0.557,0.00,0.00,1.26,0.0200,0.955,0,33464,0,0,0,44710,0,0,0,26130,0,0,0,39694,0,0,0,53376,0,0,0,5768,0,0,2,1111924,0,0,,,,,0,86230,0,0,0,60384,0,0 -17-43092793-T-C,17,43092793,rs199954851,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn913Ser,p.Asn913Ser,c.2738A>G,missense_variant,Conflicting interpretations of pathogenicity,232370,,1,152314,0.000006565384665887574,0,0,,,8.24,0.192,0.120,0.100,1.83,0.240,0.00100,0,41578,0,0,1,15288,0,0,0,3472,0,0,0,5190,0,0,0,10608,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 -17-43092796-T-C,17,43092796,rs397507204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys912Arg,p.Lys912Arg,c.2735A>G,missense_variant,Likely benign,37487,,11,628578,0.000017499817047367232,0,0,amr,0.00014039999999999997,5.44,0.408,0.00,0.00,0.387,0.170,0.213,0,17678,0,0,11,43722,0,0,0,20976,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350022,0,0,,,,,0,69778,0,0,0,33088,0,0 -17-43092797-T-G,17,43092797,rs1555589048,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys912Gln,p.Lys912Gln,c.2734A>C,missense_variant,Conflicting interpretations of pathogenicity,531231,,5,833110,0.000006001608431059524,0,0,nfe,0.0000019200000000000003,1.73,0.394,0.00,0.00,-0.0400,0.200,0.158,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092798-T-C,17,43092798,rs1800740,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly911Gly,p.Gly911Gly,c.2733A>G,synonymous_variant,Likely benign,54664,,972,1613990,0.0006022342145862119,3,0,amr,0.0018638799999999998,5.58,,0.00,0.00,-0.190,,,22,75034,0,0,130,59988,0,0,279,29602,3,0,0,44882,0,0,10,64002,0,0,14,6060,0,0,368,1179940,0,0,0,912,0,0,46,91068,0,0,103,62502,0,0 -17-43092800-CTTGATTTTCTTCCTT-C,17,43092800,rs755789142,CTTGATTTTCTTCCTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys906_Gln910del,p.Lys906_Gln910del,c.2716_2730del,inframe_deletion,Uncertain significance,479264,,4,1613902,0.0000024784652351877625,0,0,nfe,7.899999999999998e-7,13.9,,0.00,0.00,3.16,,,0,75012,0,0,0,59970,0,0,0,29598,0,0,0,44880,0,0,0,63978,0,0,0,6062,0,0,4,1179928,0,0,0,912,0,0,0,91064,0,0,0,62498,0,0 -17-43092800-CTTGA-C,17,43092800,rs80357605,CTTGA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn909LysfsTer90,p.Asn909LysfsTer90,c.2727_2730del,frameshift_variant,Pathogenic,54661,lof_flag,2,1461664,0.0000013683035225605884,0,0,,,22.4,,0.00,0.00,3.16,,,0,33460,0,0,0,44702,0,0,0,26126,0,0,0,39694,0,0,0,53374,0,0,0,5768,0,0,1,1111916,0,0,,,,,1,86240,0,0,0,60384,0,0 -17-43092801-T-C,17,43092801,rs2154362407,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln910Gln,p.Gln910Gln,c.2730A>G,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,2.37,,0.00,0.00,0.344,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092805-T-A,17,43092805,rs80357127,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn909Ile,p.Asn909Ile,c.2726A>T,missense_variant,Conflicting interpretations of pathogenicity,37486,,31,1613856,0.00001920865306446176,0,0,eas,0.00042383000000000004,9.20,0.482,0.00,0.00,-0.307,0.0100,0.781,0,74922,0,0,0,59968,0,0,0,29600,0,0,27,44892,0,0,0,63992,0,0,0,6084,0,0,0,1179938,0,0,0,912,0,0,0,91070,0,0,4,62478,0,0 -17-43092807-T-G,17,43092807,rs1350643283,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Asp,p.Glu908Asp,c.2724A>C,missense_variant,Conflicting interpretations of pathogenicity,481453,,1,628562,0.0000015909329549034144,0,0,,,16.0,0.463,0.00,0.00,0.0670,0.100,0.327,0,17674,0,0,0,43722,0,0,0,20976,0,0,0,36064,0,0,0,53100,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69778,0,0,1,33088,0,0 -17-43092809-C-T,17,43092809,rs80356978,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Lys,p.Glu908Lys,c.2722G>A,missense_variant,,,,7,1461652,0.000004789101646629977,0,0,nfe,0.0000026200000000000003,14.9,0.517,0.00,0.00,0.969,0.100,0.718,0,33460,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53372,0,0,0,5768,0,0,7,1111912,0,0,,,,,0,86238,0,0,0,60386,0,0 -17-43092809-C-A,17,43092809,rs80356978,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Ter,p.Glu908Ter,c.2722G>T,stop_gained,Pathogenic,54657,lof_flag,5,1461652,0.000003420786890449984,0,0,nfe,0.0000013199999999999999,34.0,,0.00,0.00,0.969,,,0,33460,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53372,0,0,0,5768,0,0,5,1111912,0,0,,,,,0,86238,0,0,0,60386,0,0 -17-43092814-T-C,17,43092814,rs2154363066,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys906Arg,p.Lys906Arg,c.2717A>G,missense_variant,,,,1,628578,0.0000015908924588515665,0,0,,,6.31,0.608,0.00,0.00,0.346,0.240,0.893,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53078,0,0,0,4148,0,0,1,350026,0,0,,,,,0,69784,0,0,0,33090,0,0 -17-43092817-T-C,17,43092817,rs397507203,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln905Arg,p.Gln905Arg,c.2714A>G,missense_variant,Conflicting interpretations of pathogenicity,37485,,4,1461730,0.0000027364834819015824,0,0,nfe,8.4e-7,17.7,0.512,0.00,0.00,0.0650,0.0400,0.340,0,33474,0,0,0,44714,0,0,0,26128,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,4,1111942,0,0,,,,,0,86246,0,0,0,60386,0,0 -17-43092817-T-G,17,43092817,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln905Pro,p.Gln905Pro,c.2714A>C,missense_variant,,,,1,1461730,6.841208704753956e-7,0,0,,,18.3,0.514,0.00,0.00,0.0650,0.0100,0.314,0,33474,0,0,0,44714,0,0,0,26128,0,0,1,39694,0,0,0,53378,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86246,0,0,0,60386,0,0 -17-43092819-T-C,17,43092819,rs1057522242,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu904Glu,p.Glu904Glu,c.2712A>G,synonymous_variant,Likely benign,385498,,1,833110,0.0000012003216862119048,0,0,,,3.50,,0.00,0.0100,-0.309,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092820-T-C,17,43092820,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu904Gly,p.Glu904Gly,c.2711A>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.7,0.317,0.00,0.00,1.06,0.460,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092823-C-CAT,17,43092823,rs80357717,C,CAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys903TyrfsTer98,p.Cys903TyrfsTer98,c.2706_2707dup,frameshift_variant,Pathogenic,37483,lof_flag,4,1613896,0.000002478474449406901,0,0,nfe,6.800000000000001e-7,21.8,,0.00,0.00,0.169,,,0,74926,0,0,0,59974,0,0,0,29602,0,0,0,44888,0,0,0,63984,0,0,0,6084,0,0,3,1179970,0,0,0,912,0,0,0,91076,0,0,1,62480,0,0 -17-43092825-T-G,17,43092825,rs398122665,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Asp,p.Glu902Asp,c.2706A>C,missense_variant,Conflicting interpretations of pathogenicity,91597,,12,1461718,0.000008209517841334648,0,0,sas,0.00007997999999999999,8.23,0.394,0.00,0.00,-0.0100,0.120,0.340,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53368,0,0,0,5768,0,0,0,1111936,0,0,,,,,12,86246,0,0,0,60386,0,0 -17-43092825-T-C,17,43092825,rs398122665,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Glu,p.Glu902Glu,c.2706A>G,synonymous_variant,Likely benign,184424,,1,1461718,6.841264867778874e-7,0,0,,,3.83,,0.00,0.00,-0.0100,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53368,0,0,0,5768,0,0,1,1111936,0,0,,,,,0,86246,0,0,0,60386,0,0 -17-43092826-T-C,17,43092826,rs747287311,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Gly,p.Glu902Gly,c.2705A>G,missense_variant,Conflicting interpretations of pathogenicity,928778,,2,628618,0.0000031815824554817074,0,0,nfe,9.5e-7,13.3,0.435,0.00,0.0100,0.831,0.0600,0.219,0,17690,0,0,0,43734,0,0,0,20976,0,0,0,36062,0,0,0,53096,0,0,0,4148,0,0,2,350038,0,0,,,,,0,69786,0,0,0,33088,0,0 -17-43092827-CAA-C,17,43092827,rs80357899,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Ter,p.Phe901Ter,c.2702_2703del,frameshift_variant,Pathogenic,54653,lof_flag,1,833110,0.0000012003216862119048,0,0,,,22.0,,0.00,0.00,0.846,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092828-A-G,17,43092828,rs2154363694,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Phe,p.Phe901Phe,c.2703T>C,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,5.87,,0.00,0.00,1.89,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092829-A-G,17,43092829,rs397507202,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Ser,p.Phe901Ser,c.2702T>C,missense_variant,Conflicting interpretations of pathogenicity,37482,,3,1461720,0.000002052376652163205,0,0,sas,0.00000385,6.09,0.303,0.00,0.0100,0.536,0.390,0.00,0,33474,0,0,0,44716,0,0,0,26128,0,0,0,39692,0,0,0,53370,0,0,0,5768,0,0,1,1111942,0,0,,,,,2,86244,0,0,0,60386,0,0 -17-43092839-T-C,17,43092839,rs80357420,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys898Glu,p.Lys898Glu,c.2692A>G,missense_variant,Conflicting interpretations of pathogenicity,54649,,1,628610,0.0000015908114729323427,0,0,,,11.9,0.448,0.00,0.0100,1.42,0.410,0.219,0,17690,0,0,0,43732,0,0,0,20974,0,0,0,36062,0,0,0,53062,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69784,0,0,0,33088,0,0 -17-43092841-G-A,17,43092841,rs587776484,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro897Leu,p.Pro897Leu,c.2690C>T,missense_variant,Conflicting interpretations of pathogenicity,156188,,3,1613750,0.0000018590240123934934,0,0,nfe,6.800000000000001e-7,18.5,0.399,0.00,0.00,3.92,0.0900,0.893,0,74886,0,0,0,59964,0,0,0,29596,0,0,0,44880,0,0,0,63920,0,0,0,6084,0,0,3,1179974,0,0,0,912,0,0,0,91058,0,0,0,62476,0,0 -17-43092842-G-C,17,43092842,rs770583134,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro897Ala,p.Pro897Ala,c.2689C>G,missense_variant,,,,2,628580,0.000003181774793980082,0,0,sas,0.00000476,8.59,0.433,0.00,0.00,1.14,0.120,0.893,0,17690,0,0,0,43734,0,0,0,20974,0,0,0,36062,0,0,0,53040,0,0,0,4148,0,0,0,350058,0,0,,,,,2,69784,0,0,0,33090,0,0 -17-43092844-CTT-C,17,43092844,rs80357636,CTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro897LysfsTer5,p.Pro897LysfsTer5,c.2685_2686del,frameshift_variant,Pathogenic,54646,lof_flag,2,780682,0.0000025618625765676677,0,0,,,22.7,,0.00,0.00,0.904,,,0,59126,0,0,0,58976,0,0,0,24446,0,0,0,41256,0,0,0,63646,0,0,0,4464,0,0,1,418074,0,0,0,910,0,0,1,74606,0,0,0,35178,0,0 -17-43092846-T-C,17,43092846,rs1164046546,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln895Gln,p.Gln895Gln,c.2685A>G,synonymous_variant,,,,1,628592,0.0000015908570264973147,0,0,,,3.98,,0.00,0.00,2.38,,,0,17688,0,0,0,43730,0,0,0,20974,0,0,0,36062,0,0,0,53052,0,0,0,4148,0,0,0,350064,0,0,,,,,1,69784,0,0,0,33090,0,0 -17-43092848-GTT-G,17,43092848,rs80357971,GTT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys894ThrfsTer8,p.Lys894ThrfsTer8,c.2681_2682del,frameshift_variant,Pathogenic,17667,lof_flag,22,1613724,0.000013633062407202224,0,0,nfe,0.00001221,22.9,,0.00,0.00,2.56,,,0,74890,0,0,0,59966,0,0,0,29594,0,0,0,44878,0,0,0,63902,0,0,0,6084,0,0,22,1179954,0,0,0,912,0,0,0,91064,0,0,0,62480,0,0 -17-43092849-T-A,17,43092849,rs1131692093,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys894Asn,p.Lys894Asn,c.2682A>T,missense_variant,Conflicting interpretations of pathogenicity,489712,,1,628580,0.000001590887396990041,0,0,,,15.4,0.345,0.00,0.00,-0.0850,0.0500,0.491,0,17690,0,0,0,43730,0,0,0,20974,0,0,1,36062,0,0,0,53034,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69786,0,0,0,33090,0,0 -17-43092852-C-T,17,43092852,rs587781771,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Lys,p.Lys893Lys,c.2679G>A,synonymous_variant,Likely benign,231698,,1,1461672,6.841480167917289e-7,0,0,,,1.59,,0.00,0.00,1.41,,,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 -17-43092852-C-A,17,43092852,rs587781771,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Asn,p.Lys893Asn,c.2679G>T,missense_variant,Conflicting interpretations of pathogenicity,141468,,1,1461672,6.841480167917289e-7,0,0,,,12.6,0.291,0.00,0.00,1.41,0.0100,0.568,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 -17-43092852-C-G,17,43092852,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Asn,p.Lys893Asn,c.2679G>C,missense_variant,,,,2,1461672,0.0000013682960335834579,0,0,nfe,2.999999999999999e-7,12.7,0.291,0.00,0.00,1.41,0.0100,0.568,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 -17-43092853-T-C,17,43092853,rs1567794714,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Arg,p.Lys893Arg,c.2678A>G,missense_variant,Conflicting interpretations of pathogenicity,581219,,3,1461700,0.000002052404734213587,0,0,sas,0.00000385,0.408,0.196,0.00,0.00,0.662,1.00,0.00300,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53294,0,0,0,5768,0,0,0,1111980,0,0,,,,,2,86248,0,0,1,60388,0,0 -17-43092857-A-G,17,43092857,rs137998759,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu892Leu,p.Leu892Leu,c.2674T>C,synonymous_variant,Likely benign,386793,,20,1461676,0.000013682922891256338,0,0,nfe,0.00000852,4.59,,0.00,0.00,0.589,,,0,33474,0,0,0,44724,0,0,0,26128,0,0,2,39690,0,0,0,53290,0,0,0,5768,0,0,16,1111970,0,0,,,,,0,86246,0,0,2,60386,0,0 -17-43092859-G-A,17,43092859,rs2053717743,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser891Phe,p.Ser891Phe,c.2672C>T,missense_variant,,,,1,628550,0.0000015909633282952827,0,0,,,9.54,0.369,0.00,0.00,1.03,0.0800,0.363,0,17692,0,0,0,43740,0,0,0,20978,0,0,1,36060,0,0,0,52984,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69786,0,0,0,33090,0,0 -17-43092861-C-A,17,43092861,rs786201677,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly890Gly,p.Gly890Gly,c.2670G>T,synonymous_variant,Likely benign,184769,,3,1613844,0.0000018589157316320538,0,0,,,1.81,,0.00,0.00,-0.00400,,,0,74926,0,0,0,59986,0,0,0,29602,0,0,0,44884,0,0,2,63886,0,0,0,6084,0,0,1,1179996,0,0,0,912,0,0,0,91086,0,0,0,62482,0,0 -17-43092862-C-A,17,43092862,rs80356874,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly890Val,p.Gly890Val,c.2669G>T,missense_variant,Benign,37479,,58,1613710,0.00003594202180069529,0,0,nfe,0.00003585,0.0280,0.349,0.00,0.00,-0.951,0.320,0.00700,4,74872,0,0,0,59960,0,0,0,29600,0,0,0,44876,0,0,0,63876,0,0,0,6084,0,0,54,1179988,0,0,0,912,0,0,0,91068,0,0,0,62474,0,0 -17-43092863-C-G,17,43092863,rs80357200,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly890Arg,p.Gly890Arg,c.2668G>C,missense_variant,,,,1,1461680,6.841442723441519e-7,0,0,,,0.0140,0.393,0.00,0.00,-2.83,0.530,0.00300,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092863-C-T,17,43092863,rs80357200,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly890Arg,p.Gly890Arg,c.2668G>A,missense_variant,Conflicting interpretations of pathogenicity,54634,,2,1461680,0.0000013682885446883039,0,0,,,0.0190,0.393,0.00,0.00,-2.83,0.530,0.00300,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86254,0,0,2,60388,0,0 -17-43092865-G-A,17,43092865,rs769712441,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser889Phe,p.Ser889Phe,c.2666C>T,missense_variant,Conflicting interpretations of pathogenicity,186759,,13,1461666,0.000008893960727006033,0,0,nfe,0.00000652,21.3,0.449,0.00,0.00,4.68,0.0200,0.887,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53256,0,0,0,5768,0,0,13,1111980,0,0,,,,,0,86252,0,0,0,60386,0,0 -17-43092865-G-C,17,43092865,rs769712441,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser889Cys,p.Ser889Cys,c.2666C>G,missense_variant,,,,1,1461666,6.841508251543102e-7,0,0,,,20.8,0.365,0.00,0.00,4.68,0.0100,0.996,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53256,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60386,0,0 -17-43092867-G-A,17,43092867,rs1597868491,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888His,p.His888His,c.2664C>T,synonymous_variant,Likely benign,697410,,1,1461684,6.841424001357339e-7,0,0,,,0.721,,0.00,0.00,0.112,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53272,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43092868-T-A,17,43092868,rs876658843,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888Leu,p.His888Leu,c.2663A>T,missense_variant,Conflicting interpretations of pathogenicity,482938,,2,1461690,0.000001368279183684639,0,0,nfe,2.999999999999999e-7,1.17,0.526,0.00,0.00,-0.506,0.320,0.886,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092868-T-G,17,43092868,rs876658843,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888Pro,p.His888Pro,c.2663A>C,missense_variant,Conflicting interpretations of pathogenicity,230920,,1,1461690,6.841395918423195e-7,0,0,,,1.78,0.540,0.00,0.00,-0.506,0.150,0.414,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,0,1111978,0,0,,,,,1,86254,0,0,0,60390,0,0 -17-43092869-G-A,17,43092869,rs80357480,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His888Tyr,p.His888Tyr,c.2662C>T,missense_variant,Conflicting interpretations of pathogenicity,54632,,42,1613814,0.000026025304031319596,0,0,amr,0.00008998999999999998,5.02,0.485,0.00,0.00,0.991,0.550,0.444,0,74922,0,0,10,59990,0,0,0,29598,0,0,0,44886,0,0,0,63844,0,0,0,6084,0,0,30,1180018,0,0,0,912,0,0,0,91080,0,0,2,62480,0,0 -17-43092872-CAG-C,17,43092872,rs397508990,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser886CysfsTer16,p.Ser886CysfsTer16,c.2657_2658del,frameshift_variant,Pathogenic,54629,lof_flag,4,1461672,0.0000027365920671669158,0,0,nfe,8.4e-7,22.8,,0.00,0.00,0.932,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39694,0,0,0,53252,0,0,0,5768,0,0,4,1111980,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092874-G-C,17,43092874,rs587782134,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser886Cys,p.Ser886Cys,c.2657C>G,missense_variant,Conflicting interpretations of pathogenicity,141950,,1,152190,0.000006570733950982325,0,0,,,0.00200,0.390,0.00,0.00,-6.26,0.880,0.00600,1,41462,0,0,0,15274,0,0,0,3472,0,0,0,5192,0,0,0,10620,0,0,0,316,0,0,0,68036,0,0,0,910,0,0,0,4818,0,0,0,2090,0,0 -17-43092875-A-G,17,43092875,rs762310583,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser886Pro,p.Ser886Pro,c.2656T>C,missense_variant,,,,2,1461678,0.0000013682904169044072,0,0,sas,0.00000385,13.6,0.596,0.00,0.00,-0.215,0.230,0.699,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39694,0,0,0,53264,0,0,0,5768,0,0,0,1111972,0,0,,,,,2,86256,0,0,0,60392,0,0 -17-43092876-G-C,17,43092876,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe885Leu,p.Phe885Leu,c.2655C>G,missense_variant,Uncertain significance,2565359,,1,1461638,6.841639311512153e-7,0,0,,,9.30,0.282,0.00,0.00,0.307,0.190,0.0170,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39694,0,0,0,53230,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092882-T-G,17,43092882,rs2154366693,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala883Ala,p.Ala883Ala,c.2649A>C,synonymous_variant,Likely benign,1050140,,1,628524,0.0000015910291412897518,0,0,,,7.30,,0.00,0.00,-0.459,,,0,17692,0,0,0,43740,0,0,0,20976,0,0,0,36064,0,0,0,52966,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43092883-G-A,17,43092883,rs431825391,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala883Val,p.Ala883Val,c.2648C>T,missense_variant,Conflicting interpretations of pathogenicity,96907,,2,628486,0.0000031822506786149574,0,0,,,10.0,0.464,0.00,0.00,1.27,0.550,0.531,0,17690,0,0,0,43740,0,0,0,20978,0,0,0,36064,0,0,2,52922,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43092885-A-T,17,43092885,rs2053723557,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys882Ter,p.Cys882Ter,c.2646T>A,stop_gained,Pathogenic,2573266,lof_flag,1,628510,0.0000015910645813113554,0,0,,,35.0,,0.00,0.00,2.05,,,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36060,0,0,0,52954,0,0,0,4148,0,0,1,350052,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43092886-C-G,17,43092886,rs1555589241,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys882Ser,p.Cys882Ser,c.2645G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.15,0.529,0.00,0.00,-0.383,0.320,0.740,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43092887-A-T,17,43092887,rs184374817,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys882Ser,p.Cys882Ser,c.2644T>A,missense_variant,Conflicting interpretations of pathogenicity,245978,,1,152304,0.000006565815736947158,0,0,,,15.7,0.496,0.00,0.0100,0.523,0.320,0.740,0,41570,0,0,1,15296,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4830,0,0,0,2108,0,0 -17-43092887-A-C,17,43092887,rs184374817,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys882Gly,p.Cys882Gly,c.2644T>G,missense_variant,,,,1,152304,0.000006565815736947158,0,0,,,21.1,0.507,0.00,0.0100,0.523,,,0,41570,0,0,0,15296,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,1,4830,0,0,0,2108,0,0 -17-43092890-C-G,17,43092890,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Gln,p.Glu881Gln,c.2641G>C,missense_variant,,,,1,628494,0.0000015911050861265183,0,0,,,17.0,0.543,0.00,0.00,1.57,0.0800,0.904,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,0,350052,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092890-C-T,17,43092890,rs397508988,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Lys,p.Glu881Lys,c.2641G>A,missense_variant,,,,1,628494,0.0000015911050861265183,0,0,,,14.0,0.351,0.00,0.00,1.57,0.120,0.248,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,0,350052,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43092890-C-A,17,43092890,rs397508988,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Ter,p.Glu881Ter,c.2641G>T,stop_gained,Pathogenic,54625,lof_flag,3,628494,0.000004773315258379555,0,0,nfe,9.5e-7,34.0,,0.00,0.0100,1.57,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,2,350052,0,0,,,,,0,69794,0,0,1,33094,0,0 -17-43092891-C-G,17,43092891,rs2154367261,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Asp,p.Glu880Asp,c.2640G>C,missense_variant,,,,1,1461586,6.841882721919887e-7,0,0,,,18.2,0.407,0.00,0.00,1.35,0.00,0.210,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53192,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86256,0,0,0,60390,0,0 -17-43092892-T-A,17,43092892,rs2154367305,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Val,p.Glu880Val,c.2639A>T,missense_variant,,,,1,628496,0.0000015911000229118403,0,0,,,21.0,0.434,0.00,0.00,1.34,0.00,0.266,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,1,52932,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43092893-C-G,17,43092893,rs587782370,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Gln,p.Glu880Gln,c.2638G>C,missense_variant,Conflicting interpretations of pathogenicity,142303,,2,628486,0.0000031822506786149574,0,0,amr,0.000007580000000000001,8.78,0.469,0.00,0.00,2.24,0.110,0.158,0,17692,0,0,2,43740,0,0,0,20980,0,0,0,36062,0,0,0,52920,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43092896-C-T,17,43092896,rs80357251,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu879Lys,p.Glu879Lys,c.2635G>A,missense_variant,Likely benign,54624,,1,1461574,6.841938896012108e-7,0,0,,,21.1,0.529,0.00,0.00,3.77,0.0700,0.513,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53178,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86256,0,0,0,60386,0,0 -17-43092897-T-C,17,43092897,rs730881451,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala878Ala,p.Ala878Ala,c.2634A>G,synonymous_variant,Likely benign,182092,,55,1613812,0.00003408079751544789,1,0,amr,0.00024813000000000005,9.46,,0.00,0.00,-0.128,,,0,74952,0,0,22,60004,0,0,2,29602,0,0,0,44890,0,0,0,63802,0,0,3,6084,1,0,10,1180006,0,0,0,912,0,0,17,91084,0,0,1,62476,0,0 -17-43092897-T-G,17,43092897,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala878Ala,p.Ala878Ala,c.2634A>C,synonymous_variant,,,,2,1461578,0.000001368384034242442,0,0,nfe,2.999999999999999e-7,9.15,,0.00,0.00,-0.128,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53184,0,0,0,5768,0,0,2,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092899-CATTTCCTGG-C,17,43092899,,CATTTCCTGG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875_Asn877del,p.Pro875_Asn877del,c.2623_2631del,inframe_deletion,,,,2,1461562,0.0000013683990142053501,0,0,nfe,2.999999999999999e-7,15.9,,0.00,0.00,-0.0540,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53170,0,0,0,5768,0,0,2,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092901-T-C,17,43092901,rs786203689,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn877Ser,p.Asn877Ser,c.2630A>G,missense_variant,Conflicting interpretations of pathogenicity,187381,,23,1461582,0.00001573637332698405,0,0,nfe,0.00001295,13.7,0.206,0.00,0.00,2.01,0.220,0.100,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,22,1111956,0,0,,,,,1,86256,0,0,0,60390,0,0 -17-43092904-C-G,17,43092904,rs2154367824,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly876Ala,p.Gly876Ala,c.2627G>C,missense_variant,,,,1,628472,0.0000015911607836148627,0,0,,,17.9,0.383,0.00,0.00,0.484,0.0600,0.329,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36062,0,0,0,52898,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69796,0,0,0,33094,0,0 -17-43092905-C-A,17,43092905,rs1567794885,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly876Ter,p.Gly876Ter,c.2626G>T,stop_gained,,,lof_flag,1,1461570,6.841957620914496e-7,0,0,,,35.0,,0.00,0.00,0.652,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53172,0,0,0,5768,0,0,1,1111964,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43092906-T-C,17,43092906,rs754222140,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro875Pro,p.Pro875Pro,c.2625A>G,synonymous_variant,Likely benign,230865,,4,780700,0.0000051236070193416165,0,0,afr,0.000022770000000000004,10.6,,0.00,0.0100,0.256,,,4,59158,0,0,0,59014,0,0,0,24444,0,0,0,41262,0,0,0,63524,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74632,0,0,0,35188,0,0 -17-43092907-G-C,17,43092907,rs867654871,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875Arg,p.Pro875Arg,c.2624C>G,missense_variant,Conflicting interpretations of pathogenicity,964381,,1,833108,0.0000012003245677631232,0,0,,,23.0,0.390,0.00,0.0100,2.50,0.00,0.989,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092908-G-C,17,43092908,rs866257451,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875Ala,p.Pro875Ala,c.2623C>G,missense_variant,Conflicting interpretations of pathogenicity,1793976,,9,1461536,0.000006157905108050708,0,0,sas,0.00004578999999999998,20.7,0.375,0.0100,0.0100,0.0770,0.0200,0.897,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53136,0,0,0,5768,0,0,0,1111966,0,0,,,,,8,86254,0,0,1,60390,0,0 -17-43092910-T-C,17,43092910,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn874Ser,p.Asn874Ser,c.2621A>G,missense_variant,,,,1,1461578,6.84192017121221e-7,0,0,,,17.9,0.127,0.00,0.0100,0.708,0.230,0.673,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53170,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86256,0,0,0,60392,0,0 -17-43092911-T-G,17,43092911,rs1064795862,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn874His,p.Asn874His,c.2620A>C,missense_variant,Conflicting interpretations of pathogenicity,422565,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,22.5,0.302,0.00,0.00,0.977,0.0900,0.665,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092913-G-C,17,43092913,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser873Ter,p.Ser873Ter,c.2618C>G,stop_gained,,,lof_flag,1,1461534,6.842126149648246e-7,0,0,,,38.0,,0.00,0.00,5.89,,,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53144,0,0,0,5766,0,0,1,1111960,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43092918-C-T,17,43092918,rs587782608,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Pro,p.Pro871Pro,c.2613G>A,synonymous_variant,Likely benign,142642,,19,1613722,0.00001177402303494654,0,0,eas,0.00005786999999999997,9.70,,0.00,0.00,1.37,,,0,74912,0,0,0,59986,0,0,0,29602,0,0,6,44890,0,0,0,63762,0,0,0,6084,0,0,13,1180002,0,0,0,912,0,0,0,91090,0,0,0,62482,0,0 -17-43092919-G-A,17,43092919,rs799917,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Leu,p.Pro871Leu,c.2612C>T,missense_variant,Benign,41812,,606755,1613362,0.37608112748409844,124333,0,afr,0.8144708500000001,17.7,0.140,0.0100,0.0400,3.68,1.00,0.00,61491,74998,25316,0,21893,59996,4094,0,10955,29602,2020,0,15924,44852,2878,0,25369,63608,5031,0,2579,6062,574,0,395791,1179760,66417,0,260,910,41,0,48024,91076,12960,0,24469,62498,5002,0 -17-43092919-G-C,17,43092919,rs799917,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Arg,p.Pro871Arg,c.2612C>G,missense_variant,Conflicting interpretations of pathogenicity,91594,,6,1613424,0.000003718799274090382,0,0,amr,0.00004284999999999998,23.0,0.325,0.00,0.00,3.68,0.00,0.00300,0,74886,0,0,6,59986,0,0,0,29602,0,0,0,44872,0,0,0,63636,0,0,0,6084,0,0,0,1179882,0,0,0,910,0,0,0,91086,0,0,0,62480,0,0 -17-43092919-G-T,17,43092919,rs799917,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro871Gln,p.Pro871Gln,c.2612C>A,missense_variant,Conflicting interpretations of pathogenicity,54618,,2,1461428,0.0000013685244842715482,0,0,nfe,2.999999999999999e-7,22.9,0.315,0.00,0.00,3.68,0.0100,0.00,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39684,0,0,0,53090,0,0,0,5768,0,0,2,1111912,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43092921-A-G,17,43092921,rs2053729923,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala870Ala,p.Ala870Ala,c.2610T>C,synonymous_variant,Likely benign,925534,,1,628402,0.0000015913380288414103,0,0,,,11.1,,0.00,0.00,0.299,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36058,0,0,0,52852,0,0,0,4148,0,0,1,350050,0,0,,,,,0,69796,0,0,0,33088,0,0 -17-43092922-G-A,17,43092922,rs1060502324,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala870Val,p.Ala870Val,c.2609C>T,missense_variant,Conflicting interpretations of pathogenicity,409297,,2,780532,0.000002562354906653411,0,0,,,24.2,0.734,0.00,0.0200,5.85,0.0500,0.951,0,59146,0,0,2,59004,0,0,0,24448,0,0,0,41262,0,0,0,63408,0,0,0,4464,0,0,0,418082,0,0,0,912,0,0,0,74626,0,0,0,35180,0,0 -17-43092923-C-G,17,43092923,rs753256448,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala870Pro,p.Ala870Pro,c.2608G>C,missense_variant,Conflicting interpretations of pathogenicity,937580,,1,1461482,6.842369594699079e-7,0,0,,,23.6,0.766,0.00,0.00,4.06,0.00,0.999,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39690,0,0,0,53100,0,0,0,5768,0,0,1,1111952,0,0,,,,,0,86256,0,0,0,60386,0,0 -17-43092926-A-G,17,43092926,rs2154368926,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe869Leu,p.Phe869Leu,c.2605T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,26.6,0.888,0.00,0.00,6.33,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092928-G-C,17,43092928,rs80356925,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser868Ter,p.Ser868Ter,c.2603C>G,stop_gained,Pathogenic,37477,lof_flag,2,628348,0.0000031829495757128214,0,0,sas,0.00000476,38.0,,0.00,0.0200,8.80,,,0,17692,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,0,52822,0,0,0,4148,0,0,0,350038,0,0,,,,,2,69788,0,0,0,33086,0,0 -17-43092929-A-G,17,43092929,rs2154369061,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser868Pro,p.Ser868Pro,c.2602T>C,missense_variant,,,,1,1461498,6.842294686684484e-7,0,0,,,25.2,0.750,0.00,0.00,4.71,0.00,0.995,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53128,0,0,0,5768,0,0,1,1111944,0,0,,,,,0,86254,0,0,0,60386,0,0 -17-43092934-C-T,17,43092934,rs80356911,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg866His,p.Arg866His,c.2597G>A,missense_variant,Benign,54613,,32,1613622,0.000019831162440769895,0,0,nfe,0.00001645,25.9,0.735,0.00,0.00,7.13,0.0100,0.986,2,74936,0,0,0,59982,0,0,0,29600,0,0,0,44894,0,0,0,63714,0,0,0,6084,0,0,28,1179948,0,0,0,912,0,0,2,91076,0,0,0,62476,0,0 -17-43092934-C-A,17,43092934,rs80356911,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg866Leu,p.Arg866Leu,c.2597G>T,missense_variant,,,,1,1461432,6.842603692816361e-7,0,0,,,25.8,0.759,0.00,0.0100,7.13,0.00,0.999,0,33476,0,0,0,44720,0,0,0,26130,0,0,0,39688,0,0,0,53092,0,0,0,5768,0,0,1,1111926,0,0,,,,,0,86248,0,0,0,60384,0,0 -17-43092935-G-A,17,43092935,rs41286300,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg866Cys,p.Arg866Cys,c.2596C>T,missense_variant,Benign,41811,,313,1613668,0.00019396802811978673,0,0,nfe,0.00021722,28.2,0.847,0.00,0.00,7.02,0.00,1.00,4,75032,0,0,0,60000,0,0,8,29602,0,0,0,44878,0,0,2,63678,0,0,3,6060,0,0,284,1179938,0,0,0,912,0,0,5,91070,0,0,7,62498,0,0 -17-43092936-C-T,17,43092936,rs1268762258,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys865Lys,p.Lys865Lys,c.2595G>A,synonymous_variant,Likely benign,799836,,4,1613702,0.0000024787724127503096,0,0,,,8.15,,0.00,0.00,0.0300,,,2,74938,0,0,1,59990,0,0,0,29600,0,0,0,44896,0,0,0,63754,0,0,0,6084,0,0,1,1179972,0,0,0,912,0,0,0,91080,0,0,0,62476,0,0 -17-43092937-T-A,17,43092937,rs1396916075,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys865Met,p.Lys865Met,c.2594A>T,missense_variant,,,,1,628366,0.0000015914291989063699,0,0,,,25.5,0.790,0.00,0.00,2.99,0.00,0.999,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,0,52864,0,0,0,4148,0,0,1,350018,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43092939-T-C,17,43092939,rs2154369596,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser864Ser,p.Ser864Ser,c.2592A>G,synonymous_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,10.2,,0.00,0.0100,0.353,,,0,33474,0,0,0,44720,0,0,0,26128,0,0,0,39688,0,0,0,53142,0,0,0,5768,0,0,1,1111922,0,0,,,,,0,86252,0,0,0,60382,0,0 -17-43092940-G-A,17,43092940,rs80357003,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser864Leu,p.Ser864Leu,c.2591C>T,missense_variant,Conflicting interpretations of pathogenicity,54611,,2,628328,0.000003183050890617639,0,0,amr,0.000007580000000000001,26.6,0.730,0.00,0.0100,8.80,0.00,1.00,0,17688,0,0,2,43734,0,0,0,20974,0,0,0,36058,0,0,0,52832,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69792,0,0,0,33082,0,0 -17-43092943-A-G,17,43092943,rs757440752,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val863Ala,p.Val863Ala,c.2588T>C,missense_variant,Conflicting interpretations of pathogenicity,1793452,,1,628364,0.0000015914342642162824,0,0,,,6.48,0.553,0.00,0.0100,-0.454,0.470,0.0970,0,17688,0,0,0,43738,0,0,0,20974,0,0,0,36056,0,0,0,52888,0,0,0,4148,0,0,1,350000,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43092946-T-G,17,43092946,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys862Thr,p.Lys862Thr,c.2585A>C,missense_variant,,,,2,1461472,0.0000013684832826082197,0,0,nfe,2.999999999999999e-7,22.5,0.666,0.00,0.00,-0.107,0.00,0.978,0,33474,0,0,0,44718,0,0,0,26128,0,0,0,39688,0,0,0,53156,0,0,0,5768,0,0,2,1111914,0,0,,,,,0,86248,0,0,0,60378,0,0 -17-43092946-T-C,17,43092946,rs2053734181,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys862Arg,p.Lys862Arg,c.2585A>G,missense_variant,Conflicting interpretations of pathogenicity,845804,,1,1461470,6.842425776786386e-7,0,0,,,13.4,0.607,0.00,0.00,-0.107,0.290,0.530,0,33474,0,0,0,44718,0,0,0,26128,0,0,0,39688,0,0,0,53154,0,0,0,5768,0,0,1,1111914,0,0,,,,,0,86248,0,0,0,60378,0,0 -17-43092947-T-C,17,43092947,rs80356927,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys862Glu,p.Lys862Glu,c.2584A>G,missense_variant,Benign,37476,,62,1613700,0.00003842102001611204,0,0,nfe,0.00002826,24.7,0.808,0.00,0.00,5.52,0.0100,0.876,1,74936,0,0,1,59990,0,0,0,29600,0,0,0,44888,0,0,2,63790,0,0,2,6084,0,0,44,1179952,0,0,0,912,0,0,5,91076,0,0,7,62472,0,0 -17-43092948-G-T,17,43092948,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe861Leu,p.Phe861Leu,c.2583C>A,missense_variant,,,,1,1461440,6.842566236041164e-7,0,0,,,24.9,0.823,0.00,0.00,3.88,0.00,0.991,0,33472,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53140,0,0,0,5768,0,0,1,1111898,0,0,,,,,0,86244,0,0,0,60380,0,0 -17-43092951-T-C,17,43092951,rs556684572,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr860Thr,p.Thr860Thr,c.2580A>G,synonymous_variant,Likely benign,233787,,13,1613850,0.000008055271555596865,0,0,sas,0.00006762999999999999,7.92,,0.00,0.00,-3.25,,,0,75068,0,0,0,60012,0,0,0,29602,0,0,0,44882,0,0,0,63808,0,0,0,6062,0,0,0,1179932,0,0,0,912,0,0,11,91080,0,0,2,62492,0,0 -17-43092953-T-A,17,43092953,rs373207084,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr860Ser,p.Thr860Ser,c.2578A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,24.3,0.739,0.00,0.00,4.72,0.0300,0.725,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092954-A-G,17,43092954,rs1555589344,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn859Asn,p.Asn859Asn,c.2577T>C,synonymous_variant,Likely benign,531529,,1,833110,0.0000012003216862119048,0,0,,,9.24,,0.00,0.00,-0.00200,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092957-C-T,17,43092957,rs1555589357,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln858Gln,p.Gln858Gln,c.2574G>A,synonymous_variant,Likely benign,491048,,3,1461330,0.000002052924390794687,0,0,nfe,7.200000000000001e-7,6.82,,0.00,0.00,1.07,,,0,33464,0,0,0,44716,0,0,0,26126,0,0,0,39690,0,0,0,53176,0,0,0,5768,0,0,3,1111796,0,0,,,,,0,86222,0,0,0,60372,0,0 -17-43092959-G-C,17,43092959,rs397508983,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln858Glu,p.Gln858Glu,c.2572C>G,missense_variant,,,,1,628224,0.0000015917889160554196,0,0,,,18.0,0.724,0.00,0.00,3.48,0.0300,0.759,0,17680,0,0,0,43732,0,0,0,20978,0,0,0,36058,0,0,0,52882,0,0,0,4148,0,0,0,349906,0,0,,,,,1,69768,0,0,0,33072,0,0 -17-43092962-A-G,17,43092962,rs779895958,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu857Leu,p.Leu857Leu,c.2569T>C,synonymous_variant,Likely benign,184852,,1,628228,0.0000015917787809521384,0,0,,,9.71,,0.00,0.00,1.38,,,1,17680,0,0,0,43732,0,0,0,20978,0,0,0,36056,0,0,0,52948,0,0,0,4148,0,0,0,349834,0,0,,,,,0,69780,0,0,0,33072,0,0 -17-43092964-TACTGA-T,17,43092964,,TACTGA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855PhefsTer46,p.Gln855PhefsTer46,c.2562_2566del,frameshift_variant,,,lof_flag,1,1461350,6.842987648407295e-7,0,0,,,32.0,,0.00,0.0100,0.158,,,0,33468,0,0,0,44716,0,0,0,26128,0,0,0,39686,0,0,0,53234,0,0,0,5768,0,0,1,1111742,0,0,,,,,0,86234,0,0,0,60374,0,0 -17-43092965-A-G,17,43092965,rs80356892,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr856His,p.Tyr856His,c.2566T>C,missense_variant,Benign,54604,,762,1613694,0.00047220848562366845,5,0,eas,0.013238669999999998,23.3,0.815,0.00,0.00,0.289,0.0200,0.733,0,75054,0,0,4,60008,0,0,0,29600,0,0,635,44876,5,0,0,63870,0,0,0,6062,0,0,11,1179752,0,0,0,912,0,0,39,91070,0,0,73,62490,0,0 -17-43092966-C-T,17,43092966,rs1597869178,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Gln,p.Gln855Gln,c.2565G>A,synonymous_variant,Likely benign,821494,,1,1461298,6.843231154767884e-7,0,0,,,7.09,,0.00,0.00,2.08,,,0,33464,0,0,0,44714,0,0,0,26126,0,0,0,39686,0,0,0,53236,0,0,0,5768,0,0,1,1111702,0,0,,,,,0,86230,0,0,0,60372,0,0 -17-43092967-T-G,17,43092967,rs768001441,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln855Pro,p.Gln855Pro,c.2564A>C,missense_variant,Conflicting interpretations of pathogenicity,186203,,5,780284,0.000006407923268963608,0,0,eas,0.0000326,25.4,0.883,0.00,0.0100,6.36,0.00,1.00,0,59140,0,0,0,59000,0,0,0,24444,0,0,4,41254,0,0,0,63594,0,0,0,4464,0,0,1,417714,0,0,0,912,0,0,0,74606,0,0,0,35156,0,0 -17-43092967-T-C,17,43092967,rs768001441,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Arg,p.Gln855Arg,c.2564A>G,missense_variant,Conflicting interpretations of pathogenicity,531320,,1,628024,0.00000159229583582793,0,0,,,25.1,0.838,0.00,0.0100,6.36,0.00,1.00,0,17672,0,0,0,43718,0,0,0,20974,0,0,0,36046,0,0,0,52968,0,0,0,4148,0,0,1,349666,0,0,,,,,0,69770,0,0,0,33062,0,0 -17-43092967-T-A,17,43092967,rs768001441,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Leu,p.Gln855Leu,c.2564A>T,missense_variant,Conflicting interpretations of pathogenicity,491047,,2,628024,0.00000318459167165586,0,0,nfe,9.5e-7,25.7,0.847,0.0100,0.0400,6.36,0.00,0.993,0,17672,0,0,0,43718,0,0,0,20974,0,0,0,36046,0,0,0,52968,0,0,0,4148,0,0,2,349666,0,0,,,,,0,69770,0,0,0,33062,0,0 -17-43092968-G-A,17,43092968,rs80357131,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Ter,p.Gln855Ter,c.2563C>T,stop_gained,Pathogenic,37475,lof_flag,1,628040,0.000001592255270364945,0,0,,,40.0,,0.00,0.0100,8.80,,,0,17678,0,0,0,43722,0,0,0,20972,0,0,0,36052,0,0,0,52936,0,0,0,4148,0,0,1,349706,0,0,,,,,0,69758,0,0,0,33068,0,0 -17-43092969-A-AGC,17,43092969,rs80357968,A,AGC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855LeufsTer39,p.Gln855LeufsTer39,c.2560_2561dup,frameshift_variant,Pathogenic,54600,lof_flag,3,1461104,0.0000020532419321280347,0,0,nfe,7.200000000000001e-7,27.1,,0.00,0.00,-1.02,,,0,33462,0,0,0,44708,0,0,0,26122,0,0,0,39676,0,0,0,53254,0,0,0,5768,0,0,3,1111528,0,0,,,,,0,86222,0,0,0,60364,0,0 -17-43092969-A-C,17,43092969,rs1182712531,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala854Ala,p.Ala854Ala,c.2562T>G,synonymous_variant,,,,1,1461104,6.844139773760115e-7,0,0,,,8.64,,0.00,0.0100,-1.02,,,0,33462,0,0,0,44708,0,0,0,26122,0,0,0,39676,0,0,0,53254,0,0,0,5768,0,0,0,1111528,0,0,,,,,1,86222,0,0,0,60364,0,0 -17-43092976-A-C,17,43092976,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu852Arg,p.Leu852Arg,c.2555T>G,missense_variant,,,,1,628006,0.0000015923414744445118,0,0,,,26.0,0.779,0.00,0.00,6.33,0.00,0.996,0,17676,0,0,0,43730,0,0,0,20972,0,0,0,36042,0,0,0,53000,0,0,0,4148,0,0,1,349598,0,0,,,,,0,69774,0,0,0,33066,0,0 -17-43092976-A-G,17,43092976,rs1555589415,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu852Pro,p.Leu852Pro,c.2555T>C,missense_variant,Conflicting interpretations of pathogenicity,462591,,3,780198,0.000003845177762567963,0,0,amr,0.00000562,26.3,0.785,0.00,0.00,6.33,0.00,0.955,0,59130,0,0,2,59002,0,0,0,24442,0,0,0,41244,0,0,0,63608,0,0,0,4464,0,0,1,417626,0,0,0,912,0,0,0,74612,0,0,0,35158,0,0 -17-43092977-GTT-G,17,43092977,rs886040050,GTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu851AlafsTer2,p.Glu851AlafsTer2,c.2552_2553del,frameshift_variant,Pathogenic,266280,lof_flag,1,833110,0.0000012003216862119048,0,0,,,32.0,,0.00,0.0100,4.88,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092980-C-T,17,43092980,rs398122662,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu851Lys,p.Glu851Lys,c.2551G>A,missense_variant,Conflicting interpretations of pathogenicity,91593,,2,780086,0.000002563819886525332,0,0,,,25.9,0.751,0.00,0.00,7.13,0.0100,0.967,0,59124,0,0,0,58994,0,0,0,24440,0,0,0,41250,0,0,0,63610,0,0,0,4464,0,0,1,417550,0,0,0,912,0,0,1,74592,0,0,0,35150,0,0 -17-43092983-T-C,17,43092983,rs1555589429,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser850Gly,p.Ser850Gly,c.2548A>G,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,23.0,0.634,0.00,0.0100,3.74,0.0100,0.776,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092984-T-C,17,43092984,rs2154371845,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu849Glu,p.Glu849Glu,c.2547A>G,synonymous_variant,,,,1,627994,0.0000015923719016423724,0,0,,,3.54,,0.00,0.00,-0.297,,,0,17676,0,0,0,43736,0,0,0,20974,0,0,0,36044,0,0,0,53008,0,0,0,4148,0,0,0,349572,0,0,,,,,1,69774,0,0,0,33062,0,0 -17-43092990-C-T,17,43092990,rs80357195,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met847Ile,p.Met847Ile,c.2541G>A,missense_variant,Conflicting interpretations of pathogenicity,54594,,2,1461132,0.0000013688017235951304,0,0,nfe,2.999999999999999e-7,10.7,0.404,0.00,0.00,0.0190,0.0900,0.0260,0,33464,0,0,0,44718,0,0,0,26124,0,0,0,39674,0,0,0,53282,0,0,0,5768,0,0,2,1111534,0,0,,,,,0,86212,0,0,0,60356,0,0 -17-43092991-A-G,17,43092991,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met847Thr,p.Met847Thr,c.2540T>C,missense_variant,,,,1,1461168,6.843839996495954e-7,0,0,,,17.1,0.447,0.00,0.00,0.939,0.230,0.0780,0,33464,0,0,0,44718,0,0,0,26124,0,0,0,39672,0,0,0,53308,0,0,1,5766,0,0,0,1111526,0,0,,,,,0,86226,0,0,0,60364,0,0 -17-43092994-T-C,17,43092994,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu846Gly,p.Glu846Gly,c.2537A>G,missense_variant,,,,3,833108,0.0000036009737032893692,0,0,nfe,0.00000105,22.5,0.477,0.00,0.00,2.97,0.0200,0.248,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43092997-A-G,17,43092997,rs397508976,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile845Thr,p.Ile845Thr,c.2534T>C,missense_variant,Conflicting interpretations of pathogenicity,54593,,1,628266,0.0000015916825039075804,0,0,,,1.36,0.529,0.00,0.0100,0.407,0.790,0.140,0,17688,0,0,0,43736,0,0,0,20972,0,0,0,36052,0,0,0,53028,0,0,0,4148,0,0,1,349798,0,0,,,,,0,69772,0,0,0,33072,0,0 -17-43093001-T-C,17,43093001,rs1420399110,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser844Gly,p.Ser844Gly,c.2530A>G,missense_variant,Conflicting interpretations of pathogenicity,1792691,,2,833110,0.0000024006433724238097,0,0,,,8.88,0.416,0.00,0.00,0.254,0.100,0.0810,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,1,27298,0,0 -17-43093004-T-C,17,43093004,rs80357435,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr843Ala,p.Thr843Ala,c.2527A>G,missense_variant,Conflicting interpretations of pathogenicity,54592,,6,628468,0.000009547025465099258,0,0,eas,0.00007155999999999997,5.82,0.431,0.00,0.00,0.898,0.290,0.291,0,17692,0,0,0,43738,0,0,0,20972,0,0,6,36056,0,0,0,53030,0,0,0,4146,0,0,0,349970,0,0,,,,,0,69780,0,0,0,33084,0,0 -17-43093006-T-C,17,43093006,rs28897684,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu842Gly,p.Glu842Gly,c.2525A>G,missense_variant,Benign,91592,,63,1613804,0.00003903819794721044,0,0,nfe,0.00004019,17.4,0.407,0.00,0.00,2.35,0.0300,0.819,1,74942,0,0,0,59992,0,0,0,29594,0,0,0,44890,0,0,0,63934,0,0,0,6084,0,0,60,1179906,0,0,0,912,0,0,0,91076,0,0,2,62474,0,0 -17-43093007-C-A,17,43093007,rs876658552,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu842Ter,p.Glu842Ter,c.2524G>T,stop_gained,Pathogenic,266273,lof_flag,1,833110,0.0000012003216862119048,0,0,,,33.0,,0.00,0.0100,3.02,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093008-C-T,17,43093008,rs773013395,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Arg,p.Arg841Arg,c.2523G>A,synonymous_variant,Likely benign,185316,,11,1461524,0.000007526390261124689,0,0,nfe,0.00000455,2.86,,0.00,0.00,0.347,,,0,33476,0,0,0,44722,0,0,0,26126,0,0,0,39686,0,0,0,53288,0,0,0,5766,0,0,10,1111848,0,0,,,,,0,86232,0,0,1,60380,0,0 -17-43093009-C-A,17,43093009,rs80357337,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Leu,p.Arg841Leu,c.2522G>T,missense_variant,Conflicting interpretations of pathogenicity,1792565,,1,1461514,6.842219780310007e-7,0,0,,,8.03,0.411,0.00,0.00,0.264,0.160,0.00700,0,33476,0,0,0,44722,0,0,0,26122,0,0,0,39684,0,0,0,53280,0,0,0,5768,0,0,1,1111854,0,0,,,,,0,86228,0,0,0,60380,0,0 -17-43093009-C-T,17,43093009,rs80357337,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg841Gln,p.Arg841Gln,c.2522G>A,missense_variant,Benign/Likely benign,54591,,117,1613790,0.00007250013942334505,0,0,nfe,0.00007491,2.40,0.385,0.00,0.00,0.264,1.00,0.00,2,75034,0,0,0,60004,0,0,0,29588,0,0,1,44874,0,0,0,63882,0,0,0,6062,0,0,105,1179882,0,0,0,912,0,0,2,91058,0,0,7,62494,0,0 -17-43093010-G-A,17,43093010,rs1800709,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg841Trp,p.Arg841Trp,c.2521C>T,missense_variant,Benign,17681,,4110,1613768,0.0025468344892202598,7,0,nfe,0.00298986,22.0,0.355,0.00,0.00,2.28,0.00,0.00600,49,75014,0,0,57,60010,1,0,0,29592,0,0,0,44870,0,0,48,63884,0,0,4,6062,0,0,3627,1179874,4,0,0,912,0,0,176,91062,2,0,149,62488,0,0 -17-43093010-G-T,17,43093010,rs1800709,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Arg,p.Arg841Arg,c.2521C>A,synonymous_variant,,,,2,1461524,0.0000013684345929317617,0,0,nfe,2.999999999999999e-7,2.44,,0.00,0.0100,2.28,,,0,33476,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53282,0,0,0,5768,0,0,2,1111862,0,0,,,,,0,86230,0,0,0,60376,0,0 -17-43093013-T-C,17,43093013,rs377475866,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser840Gly,p.Ser840Gly,c.2518A>G,missense_variant,Conflicting interpretations of pathogenicity,187463,,8,1613818,0.000004957188480981127,0,0,afr,0.00005276999999999998,7.25,0.251,0.00,0.00,-1.22,0.0700,0.0210,8,74948,0,0,0,60000,0,0,0,29596,0,0,0,44884,0,0,0,63912,0,0,0,6084,0,0,0,1179926,0,0,0,912,0,0,0,91080,0,0,0,62476,0,0 -17-43093013-T-A,17,43093013,rs377475866,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser840Cys,p.Ser840Cys,c.2518A>T,missense_variant,Conflicting interpretations of pathogenicity,89056,,14,1461572,0.000009578727561830687,0,0,nfe,0.00000731,18.3,0.427,0.00,0.00,-1.22,0.0300,0.886,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39684,0,0,0,53284,0,0,0,5768,0,0,14,1111882,0,0,,,,,0,86242,0,0,0,60384,0,0 -17-43093018-T-G,17,43093018,rs564375670,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn838Thr,p.Asn838Thr,c.2513A>C,missense_variant,,,,1,152342,0.000006564177967993068,0,0,,,14.2,0.424,0.00,0.00,0.563,,,1,41588,0,0,0,15296,0,0,0,3470,0,0,0,5190,0,0,0,10624,0,0,0,294,0,0,0,68030,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 -17-43093020-A-G,17,43093020,rs2154373446,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Val,p.Val837Val,c.2511T>C,synonymous_variant,,,,1,1461626,6.84169548160747e-7,0,0,,,4.46,,0.00,0.0100,1.37,,,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39690,0,0,0,53284,0,0,0,5768,0,0,0,1111924,0,0,,,,,1,86246,0,0,0,60386,0,0 -17-43093020-A-C,17,43093020,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Val,p.Val837Val,c.2511T>G,synonymous_variant,,,,2,1461626,0.000001368339096321494,0,0,nfe,2.999999999999999e-7,4.11,,0.00,0.0100,1.37,,,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39690,0,0,0,53284,0,0,0,5768,0,0,2,1111924,0,0,,,,,0,86246,0,0,0,60386,0,0 -17-43093021-A-T,17,43093021,rs2154373500,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Asp,p.Val837Asp,c.2510T>A,missense_variant,Conflicting interpretations of pathogenicity,2075020,,4,1461626,0.000002736678192642988,0,0,nfe,7.200000000000001e-7,6.09,0.477,0.00,0.0200,-0.144,0.190,0.0290,0,33476,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53288,0,0,0,5768,0,0,3,1111922,0,0,,,,,1,86248,0,0,0,60386,0,0 -17-43093022-C-T,17,43093022,rs2053747957,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val837Ile,p.Val837Ile,c.2509G>A,missense_variant,,,,1,152210,0.000006569870573549701,0,0,,,1.82,0.337,0.00,0.00,0.601,,,0,41458,0,0,0,15264,0,0,0,3472,0,0,0,5198,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 -17-43093023-T-C,17,43093023,rs2154373602,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu836Glu,p.Glu836Glu,c.2508A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,1.01,,0.00,0.00,-2.24,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093025-C-T,17,43093025,rs2154373739,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu836Lys,p.Glu836Lys,c.2506G>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.02,0.517,0.00,0.00,0.375,0.210,0.392,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093027-T-C,17,43093027,rs765157365,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His835Arg,p.His835Arg,c.2504A>G,missense_variant,Conflicting interpretations of pathogenicity,2001791,,4,1461658,0.000002736618278694469,0,0,nfe,7.200000000000001e-7,0.00100,0.344,0.00,0.00,-4.18,0.460,0.00700,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39688,0,0,0,53282,0,0,0,5768,0,0,3,1111954,0,0,,,,,1,86250,0,0,0,60388,0,0 -17-43093028-G-A,17,43093028,rs751656678,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His835Tyr,p.His835Tyr,c.2503C>T,missense_variant,Conflicting interpretations of pathogenicity,441498,,9,1613714,0.000005577196454886058,0,0,nfe,0.00000183,0.00800,0.420,0.00,0.00,-2.06,1.00,0.0380,1,74890,0,0,0,59968,0,0,0,29594,0,0,0,44886,0,0,1,63864,0,0,0,6084,0,0,6,1179960,0,0,0,910,0,0,1,91076,0,0,0,62482,0,0 -17-43093030-C-T,17,43093030,rs757383244,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly834Glu,p.Gly834Glu,c.2501G>A,missense_variant,Conflicting interpretations of pathogenicity,462587,,11,1613830,0.000006816083478433292,0,0,sas,0.000051369999999999984,8.64,0.363,0.00,0.0100,1.03,0.0400,0.216,0,74940,0,0,0,59990,0,0,0,29596,0,0,0,44890,0,0,0,63868,0,0,0,6084,0,0,1,1179986,0,0,0,912,0,0,9,91082,0,0,1,62482,0,0 -17-43093031-C-G,17,43093031,rs786202215,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly834Arg,p.Gly834Arg,c.2500G>C,missense_variant,Conflicting interpretations of pathogenicity,185491,,7,1613738,0.000004337754951547277,0,0,amr,0.00004284999999999998,0.593,0.346,0.00,0.0100,0.623,1.00,0.00100,0,74906,0,0,6,59980,0,0,0,29594,0,0,0,44880,0,0,0,63838,0,0,0,6084,0,0,1,1179986,0,0,0,912,0,0,0,91080,0,0,0,62478,0,0 -17-43093031-C-T,17,43093031,rs786202215,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly834Arg,p.Gly834Arg,c.2500G>A,missense_variant,,,,3,1461606,0.0000020525367301447858,0,0,nfe,7.200000000000001e-7,0.730,0.346,0.00,0.00,0.623,1.00,0.00100,0,33476,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53236,0,0,0,5768,0,0,3,1111952,0,0,,,,,0,86248,0,0,0,60388,0,0 -17-43093034-A-G,17,43093034,rs887578121,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu833Leu,p.Leu833Leu,c.2497T>C,synonymous_variant,Likely benign,415591,,5,1613792,0.000003098292716781345,0,0,nfe,7.899999999999998e-7,0.243,,0.00,0.00,-1.69,,,1,74934,0,0,0,59990,0,0,0,29594,0,0,0,44888,0,0,0,63858,0,0,0,6084,0,0,4,1179992,0,0,0,912,0,0,0,91068,0,0,0,62472,0,0 -17-43093035-T-A,17,43093035,rs767666029,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro832Pro,p.Pro832Pro,c.2496A>T,synonymous_variant,Likely benign,220539,,6,780776,0.000007684662438394623,0,0,afr,0.00003267,0.249,,0.00,0.0100,-2.79,,,5,59166,0,0,0,59012,0,0,0,24444,0,0,0,41264,0,0,0,63600,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74626,0,0,1,35186,0,0 -17-43093039-T-C,17,43093039,rs750645074,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr831Cys,p.Tyr831Cys,c.2492A>G,missense_variant,,,,2,1461622,0.0000013683428410355072,0,0,nfe,2.999999999999999e-7,17.4,0.514,0.00,0.00,0.509,0.0200,0.852,0,33478,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53238,0,0,0,5768,0,0,2,1111964,0,0,,,,,0,86246,0,0,0,60390,0,0 -17-43093045-AAGC-A,17,43093045,rs80358331,AAGC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly828_Phe829delinsVal,p.Gly828_Phe829delinsVal,c.2483_2485del,inframe_deletion,Conflicting interpretations of pathogenicity,54582,,2,780666,0.0000025619150827626666,0,0,,,2.07,,0.00,0.0100,-0.412,,,0,59134,0,0,0,59002,0,0,0,24448,0,0,0,41258,0,0,0,63562,0,0,0,4464,0,0,2,418078,0,0,0,912,0,0,0,74626,0,0,0,35182,0,0 -17-43093046-A-G,17,43093046,rs2154374989,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe829Leu,p.Phe829Leu,c.2485T>C,missense_variant,,,,1,1461640,6.841629949919269e-7,0,0,,,6.25,0.449,0.00,0.0100,-0.567,0.240,0.0290,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53234,0,0,1,5768,0,0,0,1111968,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093049-C-T,17,43093049,rs80357185,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly828Ser,p.Gly828Ser,c.2482G>A,missense_variant,Conflicting interpretations of pathogenicity,54581,,1,833108,0.0000012003245677631232,0,0,,,5.52,0.558,0.00,0.00,-0.238,0.170,0.604,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093050-T-C,17,43093050,rs397508970,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu827Glu,p.Glu827Glu,c.2481A>G,synonymous_variant,Conflicting interpretations of pathogenicity,491046,,1,152214,0.0000065696979252893955,0,0,,,0.559,,0.00,0.00,0.0510,,,0,41466,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43093050-T-G,17,43093050,rs397508970,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu827Asp,p.Glu827Asp,c.2481A>C,missense_variant,Conflicting interpretations of pathogenicity,54580,,2,628500,0.0000031821797931583135,0,0,eas,0.00000919,5.54,0.533,0.00,0.0100,0.0510,0.0400,0.330,0,17692,0,0,0,43740,0,0,0,20976,0,0,2,36060,0,0,0,52930,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093053-T-C,17,43093053,rs2154375353,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr826Thr,p.Thr826Thr,c.2478A>G,synonymous_variant,,,,2,1461590,0.0000013683727994854918,0,0,nfe,2.999999999999999e-7,1.61,,0.00,0.0100,-0.157,,,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,2,1111968,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43093053-T-G,17,43093053,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr826Thr,p.Thr826Thr,c.2478A>C,synonymous_variant,,,,1,1461590,6.841863997427459e-7,0,0,,,1.39,,0.00,0.0100,-0.157,,,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43093054-G-T,17,43093054,rs28897683,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr826Lys,p.Thr826Lys,c.2477C>A,missense_variant,Benign,37473,,550,1613812,0.00034080797515447897,1,0,nfe,0.00039583,14.8,0.548,0.00,0.00,0.974,0.0600,0.968,7,75026,0,0,10,60010,0,0,0,29594,0,0,0,44878,0,0,1,63762,0,0,3,6062,0,0,504,1179988,1,0,0,912,0,0,1,91072,0,0,24,62508,0,0 -17-43093055-TG-T,17,43093055,rs80357970,TG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp825GlufsTer21,p.Asp825GlufsTer21,c.2475del,frameshift_variant,Pathogenic,37472,lof_flag,18,1613794,0.0000111538399572684,0,0,nfe,0.00000953,21.6,,0.00,0.0100,-0.231,,,0,74934,0,0,0,59994,0,0,0,29600,0,0,0,44892,0,0,0,63800,0,0,0,6084,0,0,18,1180012,0,0,0,912,0,0,0,91084,0,0,0,62482,0,0 -17-43093058-C-A,17,43093058,rs80357328,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp825Tyr,p.Asp825Tyr,c.2473G>T,missense_variant,Conflicting interpretations of pathogenicity,54575,,12,1613716,0.00000743625272352756,0,0,nfe,0.00000542,6.07,0.419,0.00,0.00,-0.00300,0.0200,0.385,0,74924,0,0,0,59998,0,0,0,29598,0,0,0,44888,0,0,0,63758,0,0,0,6084,0,0,12,1180004,0,0,0,910,0,0,0,91066,0,0,0,62486,0,0 -17-43093058-C-G,17,43093058,rs80357328,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp825His,p.Asp825His,c.2473G>C,missense_variant,,,,1,1461544,6.842079335278308e-7,0,0,,,16.1,0.425,0.00,0.00,-0.00300,0.0300,0.930,0,33478,0,0,0,44724,0,0,1,26126,0,0,0,39690,0,0,0,53152,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86240,0,0,0,60394,0,0 -17-43093060-T-A,17,43093060,rs1485586275,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn824Ile,p.Asn824Ile,c.2471A>T,missense_variant,Conflicting interpretations of pathogenicity,963966,,1,628450,0.0000015912164850027847,0,0,,,21.7,0.326,0.00,0.00,1.58,0.00,0.992,0,17692,0,0,1,43740,0,0,0,20976,0,0,0,36062,0,0,0,52880,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093060-T-C,17,43093060,rs1485586275,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn824Ser,p.Asn824Ser,c.2471A>G,missense_variant,Conflicting interpretations of pathogenicity,481488,,3,628450,0.000004773649455008354,0,0,nfe,0.00000228,7.41,0.171,0.00,0.00,1.58,0.410,0.531,0,17692,0,0,0,43740,0,0,0,20976,0,0,0,36062,0,0,0,52880,0,0,0,4148,0,0,3,350066,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093063-C-T,17,43093063,rs876659731,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg823Lys,p.Arg823Lys,c.2468G>A,missense_variant,Conflicting interpretations of pathogenicity,1446321,,1,628422,0.0000015912873833188526,0,0,,,8.78,0.453,0.00,0.00,2.23,0.440,0.0740,0,17688,0,0,0,43740,0,0,0,20974,0,0,0,36062,0,0,0,52860,0,0,0,4148,0,0,0,350062,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43093063-C-A,17,43093063,rs876659731,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg823Ile,p.Arg823Ile,c.2468G>T,missense_variant,Conflicting interpretations of pathogenicity,232385,,1,152170,0.0000065715975553657095,0,0,,,21.4,0.409,0.00,0.00,2.23,0.0400,0.936,1,41450,0,0,0,15262,0,0,0,3470,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 -17-43093064-T-C,17,43093064,rs758180755,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg823Gly,p.Arg823Gly,c.2467A>G,missense_variant,,,,1,628424,0.0000015912823189438977,0,0,,,4.38,0.426,0.00,0.00,0.410,0.520,0.0200,0,17690,0,0,0,43740,0,0,0,20976,0,0,0,36060,0,0,0,52860,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093065-A-C,17,43093065,rs1064794701,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Lys,p.Asn822Lys,c.2466T>G,missense_variant,Conflicting interpretations of pathogenicity,420787,,1,1461524,6.842172964658808e-7,0,0,,,14.1,0.214,0.00,0.00,-0.0270,0.00,0.00300,0,33476,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53130,0,0,0,5768,0,0,1,1111964,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43093065-A-G,17,43093065,rs1064794701,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Asn,p.Asn822Asn,c.2466T>C,synonymous_variant,Likely benign,481437,,5,1461524,0.000003421086482329404,0,0,sas,0.00000924,2.79,,0.00,0.0200,-0.0270,,,0,33476,0,0,0,44724,0,0,1,26128,0,0,0,39692,0,0,0,53130,0,0,0,5768,0,0,1,1111964,0,0,,,,,3,86250,0,0,0,60392,0,0 -17-43093066-T-A,17,43093066,rs1555589630,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Ile,p.Asn822Ile,c.2465A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,8.60,0.348,0.00,0.00,-0.0970,0.0800,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093069-T-A,17,43093069,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp821Val,p.Asp821Val,c.2462A>T,missense_variant,Conflicting interpretations of pathogenicity,1791648,,1,628398,0.0000015913481583327763,0,0,,,21.9,0.476,0.00,0.00,0.619,0.00,0.961,0,17692,0,0,0,43740,0,0,0,20974,0,0,1,36058,0,0,0,52832,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093073-T-C,17,43093073,rs56082113,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys820Glu,p.Lys820Glu,c.2458A>G,missense_variant,Benign,41810,,2725,1613798,0.00168856325264996,33,0,afr,0.030608,7.22,0.237,0.00,0.00,0.174,0.150,0.108,2377,75056,31,0,130,60018,2,0,2,29596,0,0,0,44880,0,0,0,63700,0,0,6,6062,0,0,60,1179990,0,0,0,912,0,0,6,91080,0,0,144,62504,0,0 -17-43093075-G-C,17,43093075,rs192655097,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser819Cys,p.Ser819Cys,c.2456C>G,missense_variant,Conflicting interpretations of pathogenicity,156187,,3,1613494,0.0000018593189686481635,0,0,,,20.9,0.474,0.00,0.00,3.93,0.00,0.410,2,75000,0,0,0,59984,0,0,0,29596,0,0,0,44866,0,0,0,63578,0,0,0,6062,0,0,1,1179934,0,0,0,912,0,0,0,91058,0,0,0,62504,0,0 -17-43093075-G-A,17,43093075,rs192655097,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser819Phe,p.Ser819Phe,c.2456C>T,missense_variant,Conflicting interpretations of pathogenicity,2131859,,1,1461358,6.842950187428406e-7,0,0,,,16.1,0.427,0.00,0.0100,3.93,0.0300,0.208,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39690,0,0,1,52982,0,0,0,5768,0,0,0,1111954,0,0,,,,,0,86244,0,0,0,60392,0,0 -17-43093076-A-AACAACCATGAATTAGTCC,17,43093076,,A,AACAACCATGAATTAGTCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly813_Cys818dup,p.Gly813_Cys818dup,c.2437_2454dup,inframe_insertion,,,,1,628322,0.0000015915406431734047,0,0,,,8.44,,0.00,0.00,0.315,,,0,17690,0,0,0,43740,0,0,0,20974,0,0,1,36062,0,0,0,52762,0,0,0,4148,0,0,0,350060,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093079-A-C,17,43093079,rs2154376722,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys818Gly,p.Cys818Gly,c.2452T>G,missense_variant,Conflicting interpretations of pathogenicity,1791515,,1,833108,0.0000012003245677631232,0,0,,,1.43,0.434,0.00,0.00,-0.197,0.100,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093081-C-T,17,43093081,rs1060502365,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly817Asp,p.Gly817Asp,c.2450G>A,missense_variant,,,,1,1461408,6.842716065602487e-7,0,0,,,5.88,0.406,0.00,0.00,-0.432,0.190,0.232,0,33478,0,0,0,44722,0,0,0,26124,0,0,0,39692,0,0,0,53026,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43093084-T-A,17,43093084,rs80357108,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His816Leu,p.His816Leu,c.2447A>T,missense_variant,Conflicting interpretations of pathogenicity,496357,,2,1461428,0.0000013685244842715482,0,0,,,5.47,0.473,0.00,0.0200,-2.30,0.100,0.0710,0,33478,0,0,0,44724,0,0,0,26126,0,0,1,39692,0,0,0,53044,0,0,0,5768,0,0,0,1111954,0,0,,,,,1,86252,0,0,0,60390,0,0 -17-43093084-T-C,17,43093084,rs80357108,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His816Arg,p.His816Arg,c.2447A>G,missense_variant,Conflicting interpretations of pathogenicity,37470,,70,1613644,0.00004338007639851169,1,0,nfe,0.0000451,3.26,0.487,0.00,0.00,-2.30,0.130,0.117,1,74944,0,0,0,59990,0,0,0,29598,0,0,0,44896,0,0,1,63674,0,0,0,6084,0,0,66,1179982,1,0,0,912,0,0,0,91082,0,0,2,62482,0,0 -17-43093085-G-T,17,43093085,rs1597869935,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His816Asn,p.His816Asn,c.2446C>A,missense_variant,Conflicting interpretations of pathogenicity,1023503,,1,1461386,6.842819077232162e-7,0,0,,,10.6,0.346,0.00,0.00,0.568,0.0600,0.0710,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53000,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86248,0,0,0,60392,0,0 -17-43093091-G-A,17,43093091,rs786202054,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu814Leu,p.Leu814Leu,c.2440C>T,synonymous_variant,Likely benign,185284,,5,1461338,0.0000034215219203223347,0,0,nfe,0.0000013199999999999999,3.00,,0.00,0.00,1.20,,,0,33478,0,0,0,44724,0,0,0,26124,0,0,0,39692,0,0,0,52976,0,0,0,5768,0,0,5,1111940,0,0,,,,,0,86246,0,0,0,60390,0,0 -17-43093097-TG-T,17,43093097,rs80357524,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys812ArgfsTer3,p.Lys812ArgfsTer3,c.2433del,frameshift_variant,Pathogenic,37469,lof_flag,4,628262,0.000006366770551139493,0,0,amr,0.00001819,20.4,,0.00,0.0200,0.756,,,0,17688,0,0,3,43740,0,0,0,20972,0,0,1,36058,0,0,0,52736,0,0,0,4148,0,0,0,350038,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43093101-G-A,17,43093101,rs1459103756,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn810Asn,p.Asn810Asn,c.2430C>T,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.16,,0.00,0.00,0.478,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27296,0,0 -17-43093103-T-A,17,43093103,rs28897682,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn810Tyr,p.Asn810Tyr,c.2428A>T,missense_variant,Benign,54567,,189,1613522,0.00011713506230469742,0,0,nfe,0.00012665,22.6,0.462,0.00,0.00,1.83,0.00,0.992,2,74912,0,0,7,59980,0,0,0,29598,0,0,0,44892,0,0,0,63610,0,0,0,6084,0,0,171,1179980,0,0,0,912,0,0,0,91074,0,0,9,62480,0,0 -17-43093105-T-C,17,43093105,rs397507201,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu809Gly,p.Glu809Gly,c.2426A>G,missense_variant,Conflicting interpretations of pathogenicity,37468,,46,1613550,0.000028508568064206252,0,0,sas,0.00034053,15.3,0.392,0.00,0.00,0.636,0.100,0.0970,0,74922,0,0,0,59990,0,0,0,29594,0,0,0,44892,0,0,0,63626,0,0,0,6084,0,0,0,1179970,0,0,0,912,0,0,41,91074,0,0,5,62486,0,0 -17-43093105-T-G,17,43093105,rs397507201,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu809Ala,p.Glu809Ala,c.2426A>C,missense_variant,Conflicting interpretations of pathogenicity,1719414,,1,1461352,6.84297828312412e-7,0,0,,,18.5,0.492,0.00,0.00,0.636,0.130,0.457,1,33472,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53002,0,0,0,5768,0,0,0,1111934,0,0,,,,,0,86244,0,0,0,60394,0,0 -17-43093106-C-T,17,43093106,rs786204151,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu809Lys,p.Glu809Lys,c.2425G>A,missense_variant,Conflicting interpretations of pathogenicity,188213,,2,780358,0.0000025629262466713996,0,0,,,11.5,0.481,0.00,0.00,1.95,0.100,0.219,0,59122,0,0,0,59006,0,0,0,24442,0,0,1,41254,0,0,0,63312,0,0,0,4464,0,0,1,418056,0,0,0,912,0,0,0,74600,0,0,0,35190,0,0 -17-43093110-T-C,17,43093110,rs772960140,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Ala,p.Ala807Ala,c.2421A>G,synonymous_variant,Likely benign,184951,,1,833110,0.0000012003216862119048,0,0,,,3.13,,0.00,0.00,-0.887,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093111-G-A,17,43093111,rs273899683,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Val,p.Ala807Val,c.2420C>T,missense_variant,,,,1,628202,0.000001591844661430559,0,0,,,15.7,0.612,0.00,0.0100,1.87,0.0800,0.893,0,17690,0,0,0,43734,0,0,0,20968,0,0,0,36060,0,0,0,52720,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69774,0,0,0,33092,0,0 -17-43093112-C-T,17,43093112,rs80357240,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Thr,p.Ala807Thr,c.2419G>A,missense_variant,Conflicting interpretations of pathogenicity,821253,,3,1461352,0.0000020528934849372364,0,0,eas,0.00000835,8.34,0.562,0.00,0.00,2.81,0.0900,0.893,0,33476,0,0,0,44720,0,0,0,26128,0,0,2,39690,0,0,0,53016,0,0,1,5768,0,0,0,1111934,0,0,,,,,0,86230,0,0,0,60390,0,0 -17-43093112-C-A,17,43093112,rs80357240,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Ser,p.Ala807Ser,c.2419G>T,missense_variant,Conflicting interpretations of pathogenicity,54564,,4,1461352,0.000002737191313249648,0,0,afr,0.00000989,16.5,0.545,0.00,0.0100,2.81,0.0100,0.980,2,33476,0,0,0,44720,0,0,0,26128,0,0,0,39690,0,0,0,53016,0,0,0,5768,0,0,2,1111934,0,0,,,,,0,86230,0,0,0,60390,0,0 -17-43093115-C-T,17,43093115,rs80357144,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala806Thr,p.Ala806Thr,c.2416G>A,missense_variant,Conflicting interpretations of pathogenicity,54563,,13,1461296,0.0000088962126769662,0,0,nfe,0.00000652,0.270,0.406,0.00,0.00,0.0650,0.500,0.0740,0,33472,0,0,0,44708,0,0,0,26120,0,0,0,39688,0,0,0,53036,0,0,0,5768,0,0,13,1111894,0,0,,,,,0,86224,0,0,0,60386,0,0 -17-43093117-C-T,17,43093117,rs1060502352,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys805Tyr,p.Cys805Tyr,c.2414G>A,missense_variant,Conflicting interpretations of pathogenicity,409350,,1,833108,0.0000012003245677631232,0,0,,,2.39,0.349,0.00,0.00,0.559,0.720,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093117-C-A,17,43093117,rs1060502352,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys805Phe,p.Cys805Phe,c.2414G>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,3.10,0.291,0.00,0.00,0.559,0.580,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093118-ACT-A,17,43093118,rs80357664,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804LeufsTer5,p.Gln804LeufsTer5,c.2411_2412del,frameshift_variant,Pathogenic,37466,lof_flag,4,628212,0.000006367277288558639,0,0,nfe,0.0000036699999999999996,22.4,,0.00,0.0300,0.167,,,0,17688,0,0,0,43726,0,0,0,20966,0,0,0,36058,0,0,0,52782,0,0,0,4148,0,0,4,349992,0,0,,,,,0,69766,0,0,0,33086,0,0 -17-43093119-C-G,17,43093119,rs55746541,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln804His,p.Gln804His,c.2412G>C,missense_variant,Benign,54561,,101,1613486,0.00006259738231382238,0,0,nfe,0.0000571,4.96,0.433,0.00,0.00,0.328,0.140,0.285,2,74914,0,0,0,59982,0,0,0,29596,0,0,0,44894,0,0,0,63660,0,0,1,6084,0,0,82,1179916,0,0,0,912,0,0,6,91054,0,0,10,62474,0,0 -17-43093119-C-T,17,43093119,rs55746541,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804Gln,p.Gln804Gln,c.2412G>A,synonymous_variant,Likely benign,184501,,2,1461310,0.0000013686349918908378,0,0,nfe,2.999999999999999e-7,0.725,,0.00,0.00,0.328,,,0,33476,0,0,0,44712,0,0,0,26124,0,0,0,39688,0,0,0,53042,0,0,0,5768,0,0,2,1111894,0,0,,,,,0,86224,0,0,0,60382,0,0 -17-43093120-T-C,17,43093120,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804Arg,p.Gln804Arg,c.2411A>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,20.4,0.485,0.00,0.00,2.25,0.0800,0.821,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093121-GA-G,17,43093121,rs770460699,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804SerfsTer11,p.Gln804SerfsTer11,c.2409del,frameshift_variant,Pathogenic,254412,lof_flag,1,628180,0.000001591900410710306,0,0,,,15.6,,0.00,0.0100,2.71,,,0,17690,0,0,0,43726,0,0,0,20972,0,0,0,36058,0,0,0,52756,0,0,0,4148,0,0,0,349998,0,0,,,,,1,69742,0,0,0,33090,0,0 -17-43093124-T-C,17,43093124,rs2053766204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser803Gly,p.Ser803Gly,c.2407A>G,missense_variant,Conflicting interpretations of pathogenicity,945299,,1,628278,0.0000015916521030499239,0,0,,,6.45,0.367,0.00,0.0100,0.255,0.130,0.0150,0,17690,0,0,0,43726,0,0,0,20968,0,0,1,36058,0,0,0,52828,0,0,0,4148,0,0,0,350004,0,0,,,,,0,69766,0,0,0,33090,0,0 -17-43093124-TCA-T,17,43093124,rs80357706,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val802GlufsTer7,p.Val802GlufsTer7,c.2405_2406del,frameshift_variant,Pathogenic,54558,lof_flag,3,628278,0.000004774956309149771,0,0,sas,0.00001142,14.1,,0.00,0.0200,0.255,,,0,17690,0,0,0,43726,0,0,0,20968,0,0,0,36058,0,0,0,52828,0,0,0,4148,0,0,0,350004,0,0,,,,,3,69766,0,0,0,33090,0,0 -17-43093127-C-A,17,43093127,rs876660885,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val802Leu,p.Val802Leu,c.2404G>T,missense_variant,Conflicting interpretations of pathogenicity,234150,,1,152154,0.000006572288602337106,0,0,,,0.475,0.331,0.00,0.00,-0.242,0.200,0.00700,0,41434,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4828,0,0,0,2086,0,0 -17-43093127-C-G,17,43093127,rs876660885,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val802Leu,p.Val802Leu,c.2404G>C,missense_variant,Conflicting interpretations of pathogenicity,481483,,1,152154,0.000006572288602337106,0,0,,,0.515,0.331,0.00,0.00,-0.242,0.200,0.00700,0,41434,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,1,2086,0,0 -17-43093128-A-G,17,43093128,rs80357381,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Cys,p.Cys801Cys,c.2403T>C,synonymous_variant,Likely benign,1561159,,1,1461334,6.843062571595542e-7,0,0,,,3.45,,0.00,0.00,0.224,,,1,33474,0,0,0,44706,0,0,0,26114,0,0,0,39686,0,0,0,53118,0,0,0,5768,0,0,0,1111868,0,0,,,,,0,86218,0,0,0,60382,0,0 -17-43093128-A-C,17,43093128,rs80357381,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Trp,p.Cys801Trp,c.2403T>G,missense_variant,Conflicting interpretations of pathogenicity,439440,,1,1461334,6.843062571595542e-7,0,0,,,11.2,0.426,0.0200,0.0300,0.224,0.190,0.971,0,33474,0,0,0,44706,0,0,0,26114,0,0,0,39686,0,0,0,53118,0,0,0,5768,0,0,1,1111868,0,0,,,,,0,86218,0,0,0,60382,0,0 -17-43093129-C-T,17,43093129,rs1567795821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Tyr,p.Cys801Tyr,c.2402G>A,missense_variant,Conflicting interpretations of pathogenicity,581709,,2,1461328,0.0000013686181336428236,0,0,,,0.0590,0.427,0.00,0.00,-1.05,1.00,0.411,1,33470,0,0,0,44712,0,0,0,26112,0,0,0,39688,0,0,1,53100,0,0,0,5768,0,0,0,1111870,0,0,,,,,0,86224,0,0,0,60384,0,0 -17-43093129-C-A,17,43093129,rs1567795821,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Phe,p.Cys801Phe,c.2402G>T,missense_variant,Conflicting interpretations of pathogenicity,923426,,9,1461328,0.0000061587816013927055,0,0,nfe,0.00000381,0.202,0.483,0.00,0.00,-1.05,0.700,0.862,0,33470,0,0,0,44712,0,0,0,26112,0,0,0,39688,0,0,0,53100,0,0,0,5768,0,0,9,1111870,0,0,,,,,0,86224,0,0,0,60384,0,0 -17-43093134-A-T,17,43093134,rs80357203,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn799Lys,p.Asn799Lys,c.2397T>A,missense_variant,Conflicting interpretations of pathogenicity,54556,,4,1461358,0.0000027371800749713623,0,0,nfe,8.4e-7,12.1,0.349,0.00,0.00,-0.574,0.0600,0.444,0,33474,0,0,0,44702,0,0,0,26114,0,0,0,39686,0,0,0,53170,0,0,0,5766,0,0,4,1111844,0,0,,,,,0,86224,0,0,0,60378,0,0 -17-43093135-T-C,17,43093135,rs587782027,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn799Ser,p.Asn799Ser,c.2396A>G,missense_variant,Conflicting interpretations of pathogenicity,141806,,1,628222,0.0000015917939836554593,0,0,,,2.08,0.284,0.00,0.00,-0.219,0.410,0.348,0,17686,0,0,0,43724,0,0,0,20962,0,0,0,36058,0,0,0,52878,0,0,0,4148,0,0,1,349926,0,0,,,,,0,69758,0,0,0,33082,0,0 -17-43093138-G-A,17,43093138,rs876660005,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro798Leu,p.Pro798Leu,c.2393C>T,missense_variant,Conflicting interpretations of pathogenicity,232813,,15,1613282,0.000009297816500772958,0,0,nfe,0.000006890000000000001,1.89,0.344,0.00,0.00,1.57,0.0500,0.0580,0,74858,0,0,0,59928,0,0,0,29578,0,0,0,44882,0,0,0,63740,0,0,0,6080,0,0,14,1179818,0,0,0,912,0,0,0,91026,0,0,1,62460,0,0 -17-43093139-G-A,17,43093139,rs398122658,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro798Ser,p.Pro798Ser,c.2392C>T,missense_variant,Conflicting interpretations of pathogenicity,91587,,5,1613360,0.000003099122328556553,0,0,afr,0.00001747,1.41,0.431,0.00,0.00,-0.152,0.570,0.0350,4,74864,0,0,0,59944,0,0,0,29588,0,0,0,44886,0,0,0,63728,0,0,0,6080,0,0,1,1179844,0,0,0,912,0,0,0,91040,0,0,0,62474,0,0 -17-43093139-G-C,17,43093139,rs398122658,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro798Ala,p.Pro798Ala,c.2392C>G,missense_variant,Likely benign,599042,,2,1461318,0.0000013686274992848921,0,0,nfe,2.999999999999999e-7,2.16,0.349,0.00,0.00,-0.152,0.220,0.0580,0,33472,0,0,0,44704,0,0,0,26116,0,0,0,39688,0,0,0,53134,0,0,0,5764,0,0,2,1111838,0,0,,,,,0,86222,0,0,0,60380,0,0 -17-43093140-T-G,17,43093140,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Asp,p.Glu797Asp,c.2391A>C,missense_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,15.2,0.279,0.00,0.00,0.318,0.00,0.348,0,33474,0,0,0,44712,0,0,0,26116,0,0,0,39686,0,0,0,53178,0,0,0,5764,0,0,0,1111842,0,0,,,,,1,86230,0,0,0,60380,0,0 -17-43093140-TTC-T,17,43093140,rs80357695,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797ThrfsTer3,p.Glu797ThrfsTer3,c.2389_2390del,frameshift_variant,Pathogenic,54552,lof_flag,5,1461382,0.0000034214189034762985,0,0,eas,0.00004907999999999998,18.8,,0.00,0.0200,0.318,,,0,33474,0,0,0,44712,0,0,0,26116,0,0,5,39686,0,0,0,53178,0,0,0,5764,0,0,0,1111842,0,0,,,,,0,86230,0,0,0,60380,0,0 -17-43093142-C-T,17,43093142,rs62625306,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Lys,p.Glu797Lys,c.2389G>A,missense_variant,Likely benign,91586,,2,1461322,0.000001368623753012683,0,0,nfe,2.999999999999999e-7,14.6,0.281,0.00,0.00,0.509,0.00,0.193,0,33472,0,0,0,44706,0,0,0,26112,0,0,0,39680,0,0,0,53160,0,0,0,5768,0,0,2,1111818,0,0,,,,,0,86226,0,0,0,60380,0,0 -17-43093142-C-A,17,43093142,rs62625306,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Ter,p.Glu797Ter,c.2389G>T,stop_gained,Pathogenic,17682,lof_flag,1,1461322,6.843118765063415e-7,0,0,,,32.0,,0.00,0.0300,0.509,,,0,33472,0,0,0,44706,0,0,0,26112,0,0,0,39680,0,0,0,53160,0,0,0,5768,0,0,1,1111818,0,0,,,,,0,86226,0,0,0,60380,0,0 -17-43093144-G-C,17,43093144,rs80357364,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796Arg,p.Thr796Arg,c.2387C>G,missense_variant,Conflicting interpretations of pathogenicity,496355,,1,1461336,6.843053206107288e-7,0,0,,,15.8,0.469,0.00,0.00,1.09,0.160,0.887,0,33472,0,0,0,44708,0,0,0,26118,0,0,0,39686,0,0,0,53150,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 -17-43093144-GT-G,17,43093144,rs398122657,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796GlnfsTer7,p.Thr796GlnfsTer7,c.2386del,frameshift_variant,Pathogenic,662411,lof_flag,1,1461336,6.843053206107288e-7,0,0,,,22.8,,0.00,0.0100,1.09,,,0,33472,0,0,0,44708,0,0,0,26118,0,0,0,39686,0,0,0,53150,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 -17-43093144-G-A,17,43093144,rs80357364,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796Ile,p.Thr796Ile,c.2387C>T,missense_variant,Conflicting interpretations of pathogenicity,54551,,16,1461336,0.000010948885129771661,0,0,eas,0.0002525300000000002,14.8,0.510,0.00,0.00,1.09,0.0200,0.838,0,33472,0,0,0,44708,0,0,0,26118,0,0,16,39686,0,0,0,53150,0,0,0,5766,0,0,0,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 -17-43093146-T-A,17,43093146,rs2154380521,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys795Asn,p.Lys795Asn,c.2385A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.8,0.392,0.00,0.00,1.57,0.0200,0.854,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093149-T-C,17,43093149,rs2053770720,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala794Ala,p.Ala794Ala,c.2382A>G,synonymous_variant,Likely benign,2000079,,1,152202,0.000006570215897294385,0,0,,,5.35,,0.00,0.00,0.510,,,0,41448,0,0,0,15270,0,0,0,3466,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43093150-G-A,17,43093150,rs7502059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala794Val,p.Ala794Val,c.2381C>T,missense_variant,Conflicting interpretations of pathogenicity,233404,,3,1461308,0.0000020529552975827134,0,0,,,17.1,0.523,0.0100,0.0100,2.33,0.100,0.838,0,33468,0,0,0,44684,0,0,0,26120,0,0,1,39686,0,0,0,53174,0,0,0,5766,0,0,1,1111822,0,0,,,,,0,86208,0,0,1,60380,0,0 -17-43093155-C-T,17,43093155,rs1490530545,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly792Gly,p.Gly792Gly,c.2376G>A,synonymous_variant,Likely benign,761448,,4,1613672,0.0000024788184959520893,0,0,sas,0.00000875,2.57,,0.00,0.00,-0.214,,,0,74996,0,0,0,59996,0,0,0,29590,0,0,0,44874,0,0,0,63806,0,0,0,6060,0,0,0,1179884,0,0,0,912,0,0,3,91058,0,0,1,62496,0,0 -17-43093157-C-G,17,43093157,rs1555589778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly792Arg,p.Gly792Arg,c.2374G>C,missense_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,0.00700,0.370,0.0100,0.0100,0.175,1.00,0.0230,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093159-A-C,17,43093159,rs774730386,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Arg,p.Leu791Arg,c.2372T>G,missense_variant,Conflicting interpretations of pathogenicity,821176,,1,1461494,6.842313413534369e-7,0,0,,,5.96,0.449,0.00,0.00,0.0200,0.430,0.285,0,33474,0,0,1,44722,0,0,0,26120,0,0,0,39688,0,0,0,53236,0,0,0,5768,0,0,0,1111872,0,0,,,,,0,86232,0,0,0,60382,0,0 -17-43093159-A-G,17,43093159,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Pro,p.Leu791Pro,c.2372T>C,missense_variant,,,,4,1461494,0.0000027369253654137476,0,0,nfe,8.4e-7,5.15,0.367,0.00,0.00,0.0200,0.390,0.0290,0,33474,0,0,0,44722,0,0,0,26120,0,0,0,39688,0,0,0,53236,0,0,0,5768,0,0,4,1111872,0,0,,,,,0,86232,0,0,0,60382,0,0 -17-43093160-G-C,17,43093160,rs1567795916,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Val,p.Leu791Val,c.2371C>G,missense_variant,Conflicting interpretations of pathogenicity,629997,,1,833110,0.0000012003216862119048,0,0,,,0.166,0.362,0.00,0.00,0.187,0.620,0.141,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093162-G-A,17,43093162,rs2154381160,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr790Ile,p.Thr790Ile,c.2369C>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,12.1,0.449,0.00,0.00,0.952,0.0400,0.838,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093163-T-C,17,43093163,rs41286298,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr790Ala,p.Thr790Ala,c.2368A>G,missense_variant,Conflicting interpretations of pathogenicity,37465,,113,1613726,0.00007002427921468701,0,0,afr,0.0011214699999999998,8.76,0.504,0.00,0.00,0.318,0.0500,0.759,100,75000,0,0,3,60004,0,0,0,29588,0,0,0,44872,0,0,0,63850,0,0,0,6062,0,0,0,1179892,0,0,0,912,0,0,0,91058,0,0,10,62488,0,0 -17-43093166-T-C,17,43093166,rs2053773104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser789Gly,p.Ser789Gly,c.2365A>G,missense_variant,Conflicting interpretations of pathogenicity,845101,,2,1461528,0.0000013684308477155415,0,0,nfe,2.999999999999999e-7,4.03,0.249,0.00,0.00,0.381,0.150,0.0100,0,33470,0,0,0,44718,0,0,0,26120,0,0,0,39688,0,0,0,53248,0,0,0,5768,0,0,2,1111898,0,0,,,,,0,86236,0,0,0,60382,0,0 -17-43093169-C-T,17,43093169,rs80357060,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val788Ile,p.Val788Ile,c.2362G>A,missense_variant,Conflicting interpretations of pathogenicity,54550,,7,1613662,0.000004337959250450218,0,0,nfe,0.00000247,8.74,0.309,0.00,0.00,1.49,0.0500,0.0620,0,74902,0,0,0,59968,0,0,0,29584,0,0,0,44890,0,0,0,63878,0,0,0,6084,0,0,7,1179922,0,0,0,912,0,0,0,91050,0,0,0,62472,0,0 -17-43093170-T-C,17,43093170,rs750594744,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu787Glu,p.Glu787Glu,c.2361A>G,synonymous_variant,,,,1,628444,0.0000015912316769672397,0,0,,,0.470,,0.00,0.0100,-0.243,,,0,17688,0,0,0,43734,0,0,0,20966,0,0,0,36060,0,0,0,52986,0,0,0,4148,0,0,0,350006,0,0,,,,,1,69772,0,0,0,33084,0,0 -17-43093172-C-G,17,43093172,rs1288796003,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu787Gln,p.Glu787Gln,c.2359G>C,missense_variant,Conflicting interpretations of pathogenicity,1432111,,1,833108,0.0000012003245677631232,0,0,,,5.70,0.574,0.00,0.00,2.07,0.240,0.728,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093174-A-G,17,43093174,rs760864137,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu786Pro,p.Leu786Pro,c.2357T>C,missense_variant,Conflicting interpretations of pathogenicity,630128,,2,628506,0.0000031821494146436153,0,0,,,24.0,0.792,0.00,0.00,4.69,0.0100,0.914,0,17690,0,0,0,43736,0,0,0,20972,0,0,0,36060,0,0,1,53018,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69776,0,0,1,33086,0,0 -17-43093179-C-T,17,43093179,rs372017932,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser784Ser,p.Ser784Ser,c.2352G>A,synonymous_variant,Likely benign,136543,,95,1613702,0.00005887084480281985,0,0,eas,0.00012015999999999997,1.49,,0.00,0.00,-1.64,,,1,74890,0,0,1,59976,0,0,0,29594,0,0,10,44888,0,0,1,63888,0,0,0,6084,0,0,77,1179922,0,0,0,912,0,0,2,91068,0,0,3,62480,0,0 -17-43093179-C-G,17,43093179,rs372017932,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser784Ser,p.Ser784Ser,c.2352G>C,synonymous_variant,Likely benign,799520,,1,1461570,6.841957620914496e-7,0,0,,,1.22,,0.00,0.00,-1.64,,,0,33474,0,0,0,44722,0,0,0,26124,0,0,0,39690,0,0,0,53272,0,0,0,5768,0,0,0,1111898,0,0,,,,,1,86236,0,0,0,60386,0,0 -17-43093180-G-A,17,43093180,rs55914168,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser784Leu,p.Ser784Leu,c.2351C>T,missense_variant,Benign,37464,,79,1613816,0.000048952296916129224,0,0,amr,0.0007225100000000001,23.9,0.632,0.00,0.00,6.98,0.0100,0.954,1,75010,0,0,55,59986,0,0,0,29590,0,0,2,44876,0,0,0,63902,0,0,0,6062,0,0,20,1179936,0,0,0,912,0,0,1,91042,0,0,0,62500,0,0 -17-43093183-A-T,17,43093183,rs562370358,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile783Asn,p.Ile783Asn,c.2348T>A,missense_variant,Conflicting interpretations of pathogenicity,1418291,,1,628554,0.0000015909532037024663,0,0,,,14.3,0.349,0.00,0.00,1.35,0.110,0.285,0,17690,0,0,0,43736,0,0,1,20972,0,0,0,36060,0,0,0,53040,0,0,0,4148,0,0,0,350046,0,0,,,,,0,69774,0,0,0,33088,0,0 -17-43093184-T-C,17,43093184,rs80356948,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile783Val,p.Ile783Val,c.2347A>G,missense_variant,Conflicting interpretations of pathogenicity,54541,,18,1613836,0.000011153549679149555,0,0,eas,0.00022307999999999996,0.364,0.240,0.00,0.00,-1.10,0.750,0.0230,0,74926,0,0,0,59984,0,0,0,29594,0,0,16,44886,0,0,0,63940,0,0,0,6084,0,0,0,1179972,0,0,0,912,0,0,0,91060,0,0,2,62478,0,0 -17-43093185-A-T,17,43093185,rs1555589837,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser782Arg,p.Ser782Arg,c.2346T>A,missense_variant,Conflicting interpretations of pathogenicity,496356,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,20.6,0.683,0.00,0.00,0.0740,0.00,0.998,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093187-TTTCC-T,17,43093187,rs886040026,TTTCC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781ValfsTer10,p.Glu781ValfsTer10,c.2340_2343del,frameshift_variant,Pathogenic,266251,lof_flag,1,628548,0.0000015909683906400147,0,0,,,23.8,,0.00,0.0100,4.72,,,0,17692,0,0,0,43738,0,0,0,20972,0,0,0,36060,0,0,0,53042,0,0,0,4148,0,0,0,350038,0,0,,,,,1,69766,0,0,0,33092,0,0 -17-43093187-T-C,17,43093187,rs1433746078,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser782Gly,p.Ser782Gly,c.2344A>G,missense_variant,Conflicting interpretations of pathogenicity,570674,,1,152198,0.000006570388572780194,0,0,,,22.8,0.627,0.0100,0.00,4.72,0.0100,0.919,0,41444,0,0,0,15268,0,0,0,3470,0,0,0,5198,0,0,0,10630,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43093189-T-A,17,43093189,rs587776482,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Val,p.Glu781Val,c.2342A>T,missense_variant,,,,1,1461648,6.841592503803926e-7,0,0,,,22.5,0.458,0.270,0.370,0.0120,0.00,0.348,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,0,1111950,0,0,,,,,1,86220,0,0,0,60390,0,0 -17-43093189-T-C,17,43093189,rs587776482,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Gly,p.Glu781Gly,c.2342A>G,missense_variant,,,,1,1461648,6.841592503803926e-7,0,0,,,13.6,0.390,0.00,0.00,0.0120,0.130,0.0100,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,1,1111950,0,0,,,,,0,86220,0,0,0,60390,0,0 -17-43093189-T-G,17,43093189,rs587776482,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Ala,p.Glu781Ala,c.2342A>C,missense_variant,Conflicting interpretations of pathogenicity,156186,,13,1461648,0.000008894070254945102,0,0,nfe,0.00000575,17.0,0.423,0.0200,0.0600,0.0120,0.0100,0.0380,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,12,1111950,0,0,,,,,0,86220,0,0,1,60390,0,0 -17-43093190-C-A,17,43093190,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Ter,p.Glu781Ter,c.2341G>T,stop_gained,Pathogenic,1789877,lof_flag,1,1461660,6.841536335399477e-7,0,0,,,35.0,,0.00,0.0100,2.17,,,0,33476,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53310,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86220,0,0,0,60392,0,0 -17-43093191-C-T,17,43093191,rs1555589856,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln780Gln,p.Gln780Gln,c.2340G>A,synonymous_variant,Likely benign,479265,,8,1461646,0.000005473281492235466,0,0,nfe,0.0000031,6.30,,0.00,0.00,3.51,,,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53310,0,0,0,5768,0,0,8,1111950,0,0,,,,,0,86214,0,0,0,60392,0,0 -17-43093192-T-C,17,43093192,rs1410232200,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Arg,p.Gln780Arg,c.2339A>G,missense_variant,Conflicting interpretations of pathogenicity,438919,,18,1613866,0.000011153342346886296,0,0,nfe,0.00000953,25.0,0.759,0.00,0.00,3.73,0.00,0.995,0,74936,0,0,0,59982,0,0,0,29596,0,0,0,44890,0,0,0,63944,0,0,0,6084,0,0,18,1179982,0,0,0,912,0,0,0,91054,0,0,0,62486,0,0 -17-43093193-G-A,17,43093193,rs80356945,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Ter,p.Gln780Ter,c.2338C>T,stop_gained,Pathogenic,54540,lof_flag,4,1613642,0.0000024788645808673795,0,0,nfe,6.800000000000001e-7,38.0,,0.00,0.0100,5.87,,,0,74856,0,0,0,59942,0,0,0,29596,0,0,0,44892,0,0,0,63884,0,0,0,6084,0,0,3,1179964,0,0,0,912,0,0,1,91028,0,0,0,62484,0,0 -17-43093193-G-C,17,43093193,rs80356945,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Glu,p.Gln780Glu,c.2338C>G,missense_variant,Conflicting interpretations of pathogenicity,91584,,19,1613642,0.000011774606759120052,0,0,nfe,0.00000878,24.4,0.620,0.00,0.00,5.87,0.0200,0.836,1,74856,0,0,0,59942,0,0,0,29596,0,0,0,44892,0,0,0,63884,0,0,0,6084,0,0,17,1179964,0,0,0,912,0,0,0,91028,0,0,1,62484,0,0 -17-43093195-G-A,17,43093195,rs2154382857,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr779Ile,p.Thr779Ile,c.2336C>T,missense_variant,Conflicting interpretations of pathogenicity,1516076,,1,628554,0.0000015909532037024663,0,0,,,22.8,0.552,0.00,0.00,4.18,0.0100,0.955,0,17692,0,0,0,43732,0,0,0,20976,0,0,1,36060,0,0,0,53036,0,0,0,4148,0,0,0,350050,0,0,,,,,0,69766,0,0,0,33094,0,0 -17-43093196-T-G,17,43093196,rs1348270931,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr779Pro,p.Thr779Pro,c.2335A>C,missense_variant,Conflicting interpretations of pathogenicity,1330114,,1,628568,0.0000015909177686423745,0,0,,,23.3,0.569,0.00,0.00,1.33,0.0300,0.927,0,17692,0,0,0,43736,0,0,0,20974,0,0,0,36060,0,0,0,53042,0,0,0,4148,0,0,0,350056,0,0,,,,,1,69766,0,0,0,33094,0,0 -17-43093197-G-A,17,43093197,rs777404687,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly778Gly,p.Gly778Gly,c.2334C>T,synonymous_variant,Likely benign,427355,,4,628554,0.000006363812814809865,0,0,amr,0.000030320000000000004,5.39,,0.00,0.00,0.668,,,0,17692,0,0,4,43738,0,0,0,20976,0,0,0,36060,0,0,0,53012,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69770,0,0,0,33096,0,0 -17-43093198-C-T,17,43093198,rs730881483,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly778Asp,p.Gly778Asp,c.2333G>A,missense_variant,Conflicting interpretations of pathogenicity,182147,,5,1613720,0.0000030984309545646086,0,0,nfe,0.0000012399999999999998,8.89,0.253,0.00,0.00,0.829,0.770,0.173,0,74864,0,0,0,59962,0,0,0,29594,0,0,0,44888,0,0,0,63882,0,0,0,6084,0,0,5,1179988,0,0,0,912,0,0,0,91060,0,0,0,62486,0,0 -17-43093200-A-G,17,43093200,rs80357444,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Tyr,p.Tyr777Tyr,c.2331T>C,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,5.96,,0.00,0.00,-0.0540,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093201-TA-T,17,43093201,rs80357725,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777MetfsTer15,p.Tyr777MetfsTer15,c.2329del,frameshift_variant,Pathogenic,54536,lof_flag,1,1461696,6.841367835719602e-7,0,0,,,23.2,,0.00,0.0100,-0.579,,,1,33476,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53316,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86240,0,0,0,60394,0,0 -17-43093201-T-A,17,43093201,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Phe,p.Tyr777Phe,c.2330A>T,missense_variant,Conflicting interpretations of pathogenicity,1789716,,6,1461696,0.000004104820701431761,0,0,nfe,0.00000194,20.4,0.476,0.00,0.00,-0.579,0.0700,0.992,0,33476,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53316,0,0,0,5768,0,0,6,1111960,0,0,,,,,0,86240,0,0,0,60394,0,0 -17-43093202-A-G,17,43093202,rs397507199,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777His,p.Tyr777His,c.2329T>C,missense_variant,Conflicting interpretations of pathogenicity,821108,,1,1461700,6.84134911404529e-7,0,0,,,20.3,0.499,0.00,0.00,0.491,0.0600,0.775,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53326,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86236,0,0,0,60394,0,0 -17-43093202-A-T,17,43093202,rs397507199,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Asn,p.Tyr777Asn,c.2329T>A,missense_variant,,,,1,1461700,6.84134911404529e-7,0,0,,,22.7,0.532,0.00,0.00,0.491,0.0300,0.775,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53326,0,0,0,5768,0,0,0,1111956,0,0,,,,,0,86236,0,0,1,60394,0,0 -17-43093202-A-C,17,43093202,rs397507199,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr777Asp,p.Tyr777Asp,c.2329T>G,missense_variant,Conflicting interpretations of pathogenicity,37463,,5,1613880,0.0000030981237762411082,0,0,amr,0.00001327,16.4,0.514,0.00,0.00,0.491,0.100,0.678,0,74920,0,0,3,59996,0,0,0,29600,0,0,0,44888,0,0,0,63946,0,0,0,6084,0,0,2,1179982,0,0,0,912,0,0,0,91066,0,0,0,62486,0,0 -17-43093207-G-C,17,43093207,rs1567796086,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr775Ser,p.Thr775Ser,c.2324C>G,missense_variant,Conflicting interpretations of pathogenicity,2159540,,1,628600,0.000001590836780146357,0,0,,,24.5,0.532,0.00,0.00,7.02,0.0300,0.951,0,17692,0,0,0,43740,0,0,0,20978,0,0,1,36060,0,0,0,53044,0,0,0,4148,0,0,0,350058,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43093210-C-T,17,43093210,rs730881482,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly774Asp,p.Gly774Asp,c.2321G>A,missense_variant,Conflicting interpretations of pathogenicity,182146,,1,628628,0.000001590765921976113,0,0,,,12.7,0.268,0.00,0.00,3.82,1.00,0.00,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36060,0,0,0,53066,0,0,0,4148,0,0,0,350064,0,0,,,,,1,69784,0,0,0,33096,0,0 -17-43093211-C-T,17,43093211,rs1555589917,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly774Ser,p.Gly774Ser,c.2320G>A,missense_variant,Conflicting interpretations of pathogenicity,1064262,,1,628646,0.0000015907203736284014,0,0,,,18.8,0.433,0.00,0.00,7.12,0.0900,0.0270,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53076,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69788,0,0,0,33096,0,0 -17-43093212-A-G,17,43093212,rs2154383725,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro773Pro,p.Pro773Pro,c.2319T>C,synonymous_variant,Likely benign,1789533,,1,1461742,6.841152542651166e-7,0,0,,,9.94,,0.00,0.00,0.382,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39690,0,0,0,53344,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86248,0,0,0,60388,0,0 -17-43093213-G-C,17,43093213,rs2053781755,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro773Arg,p.Pro773Arg,c.2318C>G,missense_variant,Conflicting interpretations of pathogenicity,1789512,,2,985196,0.000002030052903178657,0,0,,,24.3,0.476,0.0100,0.0100,4.13,0.00,0.998,0,57190,0,0,0,16240,0,0,0,8622,0,0,0,8828,0,0,0,10872,0,0,0,1936,0,0,0,829918,0,0,0,912,0,0,1,21288,0,0,1,29390,0,0 -17-43093215-T-G,17,43093215,rs876658590,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val772Val,p.Val772Val,c.2316A>C,synonymous_variant,Likely benign,230479,,1,628652,0.0000015907051914254627,0,0,,,7.28,,0.00,0.00,-0.562,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53080,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093216-A-G,17,43093216,rs80357467,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val772Ala,p.Val772Ala,c.2315T>C,missense_variant,Benign,41809,,393,1613936,0.00024350407946783516,0,0,nfe,0.00028483,23.9,0.639,0.00,0.00,2.16,0.0100,0.928,10,74918,0,0,0,59992,0,0,0,29604,0,0,0,44896,0,0,0,63980,0,0,0,6084,0,0,368,1179984,0,0,0,912,0,0,0,91082,0,0,15,62484,0,0 -17-43093219-A-G,17,43093219,rs730881481,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu771Ser,p.Leu771Ser,c.2312T>C,missense_variant,Conflicting interpretations of pathogenicity,182145,,5,780852,0.000006403262077832931,0,0,amr,0.000022810000000000004,25.0,0.492,0.00,0.00,4.64,0.00,0.988,0,59134,0,0,4,59006,0,0,0,24452,0,0,0,41264,0,0,0,63706,0,0,0,4464,0,0,1,418106,0,0,0,912,0,0,0,74622,0,0,0,35186,0,0 -17-43093220-A-G,17,43093220,rs16940,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu771Leu,p.Leu771Leu,c.2311T>C,synonymous_variant,Benign,125554,,536645,1613608,0.33257457821230435,91981,0,sas,0.4943241399999999,3.67,,0.00,0.00,-2.61,,,13290,74946,1224,0,18932,59978,3019,0,10531,29592,1858,0,15906,44862,2869,0,25360,63878,5006,0,2210,6062,430,0,384034,1179822,62431,0,260,912,41,0,45360,91054,11613,0,20762,62502,3490,0 -17-43093229-T-C,17,43093229,rs398122656,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser768Gly,p.Ser768Gly,c.2302A>G,missense_variant,Conflicting interpretations of pathogenicity,91583,,4,628652,0.000006362820765701851,0,0,eas,0.00002205,13.9,0.294,0.00,0.00,0.793,0.0900,0.139,0,17692,0,0,0,43740,0,0,0,20980,0,0,3,36058,0,0,0,53086,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43093229-T-G,17,43093229,rs398122656,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser768Arg,p.Ser768Arg,c.2302A>C,missense_variant,,,,1,628652,0.0000015907051914254627,0,0,,,22.3,0.528,0.00,0.00,0.793,0.0100,0.914,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53086,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43093232-T-C,17,43093232,rs80357194,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser767Gly,p.Ser767Gly,c.2299A>G,missense_variant,Conflicting interpretations of pathogenicity,37461,,6,1613978,0.000003717522791512648,0,0,afr,0.00000443,22.5,0.208,0.00,0.00,0.991,0.00,0.348,2,74936,0,0,1,60004,0,0,0,29602,0,0,0,44894,0,0,0,63994,0,0,0,6084,0,0,0,1179988,0,0,0,912,0,0,0,91084,0,0,3,62480,0,0 -17-43093233-ACT-A,17,43093233,rs80357780,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser766Ter,p.Ser766Ter,c.2296_2297del,frameshift_variant,Pathogenic,17666,lof_flag,1,628658,0.0000015906900095123263,0,0,,,24.4,,0.00,0.0100,-0.169,,,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093235-T-C,17,43093235,rs398122655,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser766Gly,p.Ser766Gly,c.2296A>G,missense_variant,Conflicting interpretations of pathogenicity,91581,,7,1461752,0.000004788774019122259,0,0,nfe,0.0000026200000000000003,23.4,0.453,0.00,0.00,2.95,0.0100,0.768,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53372,0,0,0,5768,0,0,7,1111952,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43093236-C-G,17,43093236,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Asp,p.Glu765Asp,c.2295G>C,missense_variant,,,,6,1461756,0.000004104652212818008,0,0,nfe,0.00000194,14.7,0.580,0.00,0.00,0.0140,0.0200,0.819,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53372,0,0,0,5768,0,0,6,1111960,0,0,,,,,0,86244,0,0,0,60392,0,0 -17-43093236-C-A,17,43093236,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Asp,p.Glu765Asp,c.2295G>T,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,14.7,0.580,0.00,0.00,0.0140,0.0200,0.819,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,1,53372,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86244,0,0,0,60392,0,0 -17-43093236-C-T,17,43093236,rs201875054,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu765Glu,p.Glu765Glu,c.2295G>A,synonymous_variant,Likely benign,185582,,5,1614076,0.000003097747565789963,0,0,eas,0.000007390000000000001,4.65,,0.00,0.00,0.0140,,,2,75052,0,0,0,60014,0,0,0,29600,0,0,2,44880,0,0,0,63994,0,0,0,6062,0,0,1,1179986,0,0,0,912,0,0,0,91070,0,0,0,62506,0,0 -17-43093238-C-T,17,43093238,rs80357449,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Lys,p.Glu765Lys,c.2293G>A,missense_variant,,,,4,1461756,0.0000027364348085453387,0,0,nfe,7.200000000000001e-7,22.9,0.529,0.00,0.00,5.91,0.0300,0.893,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,3,1111966,0,0,,,,,0,86242,0,0,1,60392,0,0 -17-43093239-T-C,17,43093239,rs1555589969,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val764Val,p.Val764Val,c.2292A>G,synonymous_variant,Likely benign,479254,,1,628662,0.000001590679888397899,0,0,,,2.01,,0.00,0.00,-1.00,,,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53096,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69792,0,0,1,33092,0,0 -17-43093240-A-G,17,43093240,rs1234701709,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val764Ala,p.Val764Ala,c.2291T>C,missense_variant,Conflicting interpretations of pathogenicity,1392157,,1,152196,0.0000065704749139267785,0,0,,,0.609,0.324,0.00,0.00,-0.534,,,0,41440,0,0,0,15286,0,0,0,3472,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43093242-A-G,17,43093242,rs1567796270,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser763Ser,p.Ser763Ser,c.2289T>C,synonymous_variant,Likely benign,628443,,7,1461766,0.0000047887281548483135,0,0,nfe,0.0000026200000000000003,8.72,,0.00,0.00,2.27,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53366,0,0,0,5768,0,0,7,1111968,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093245-T-A,17,43093245,rs273898682,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg762Ser,p.Arg762Ser,c.2286A>T,missense_variant,Benign,54522,,47,1614104,0.00002911832199164366,1,0,eas,0.00053764,22.5,0.813,0.00,0.00,-0.173,0.0100,0.588,0,75062,0,0,0,60014,0,0,0,29602,0,0,33,44876,0,0,0,63996,0,0,0,6062,0,0,1,1179994,0,0,0,912,0,0,12,91078,1,0,1,62508,0,0 -17-43093249-T-G,17,43093249,rs80356869,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Ala,p.Glu761Ala,c.2282A>C,missense_variant,Conflicting interpretations of pathogenicity,54520,,1,628662,0.000001590679888397899,0,0,,,14.3,0.445,0.00,0.00,0.259,0.0700,0.386,1,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53088,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093249-T-C,17,43093249,rs80356869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Gly,p.Glu761Gly,c.2282A>G,missense_variant,Conflicting interpretations of pathogenicity,1788957,,1,628662,0.000001590679888397899,0,0,,,18.3,0.441,0.00,0.00,0.259,0.0200,0.119,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53088,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093250-C-G,17,43093250,rs397507198,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Gln,p.Glu761Gln,c.2281G>C,missense_variant,Conflicting interpretations of pathogenicity,185726,,1,628652,0.0000015907051914254627,0,0,,,18.9,0.463,0.00,0.00,4.64,0.140,0.506,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53086,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69790,0,0,0,33092,0,0 -17-43093252-G-A,17,43093252,rs1161074446,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr760Ile,p.Thr760Ile,c.2279C>T,missense_variant,Conflicting interpretations of pathogenicity,659006,,2,628662,0.000003181359776795798,0,0,,,3.55,0.456,0.00,0.00,0.338,0.190,0.0980,0,17688,0,0,0,43740,0,0,0,20982,0,0,1,36058,0,0,0,53094,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69790,0,0,0,33094,0,0 -17-43093253-T-C,17,43093253,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr760Ala,p.Thr760Ala,c.2278A>G,missense_variant,Conflicting interpretations of pathogenicity,1788885,,1,628668,0.0000015906647069677476,0,0,,,14.1,0.313,0.00,0.00,0.501,0.190,0.0980,0,17690,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53094,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43093254-T-C,17,43093254,rs2154385875,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln759Gln,p.Gln759Gln,c.2277A>G,synonymous_variant,Likely benign,1788867,,1,833108,0.0000012003245677631232,0,0,,,6.83,,0.00,0.00,0.349,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093256-G-A,17,43093256,rs80356999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln759Ter,p.Gln759Ter,c.2275C>T,stop_gained,Pathogenic,54519,lof_flag,1,628654,0.0000015907001307555508,0,0,,,35.0,,0.00,0.0100,2.90,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36058,0,0,0,53084,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093261-AC-A,17,43093261,rs80357583,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val757PhefsTer8,p.Val757PhefsTer8,c.2269del,frameshift_variant,Pathogenic,37459,lof_flag,4,628678,0.000006362557620912454,0,0,nfe,0.00000228,21.6,,0.00,0.0100,0.311,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53104,0,0,0,4148,0,0,3,350066,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43093262-C-A,17,43093262,rs772617029,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val757Phe,p.Val757Phe,c.2269G>T,missense_variant,Conflicting interpretations of pathogenicity,438918,,1,628660,0.0000015906849489390132,0,0,,,18.3,0.412,0.00,0.00,-0.167,0.0800,0.611,0,17692,0,0,1,43740,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093263-C-A,17,43093263,rs80356884,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Ser,p.Arg756Ser,c.2268G>T,missense_variant,Conflicting interpretations of pathogenicity,224428,,2,1461770,0.0000013682043002661157,0,0,,,7.51,0.349,0.00,0.00,1.27,0.0700,0.0700,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86248,0,0,1,60394,0,0 -17-43093263-C-G,17,43093263,rs80356884,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg756Ser,p.Arg756Ser,c.2268G>C,missense_variant,Conflicting interpretations of pathogenicity,54518,,34,1613912,0.000021066823965618945,0,0,nfe,0.00001645,7.67,0.349,0.00,0.00,1.27,0.0700,0.0700,0,74914,0,0,0,59988,0,0,1,29600,0,0,1,44888,0,0,0,63974,0,0,0,6084,0,0,28,1179986,0,0,0,912,0,0,3,91078,0,0,1,62488,0,0 -17-43093263-C-T,17,43093263,rs80356884,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Arg,p.Arg756Arg,c.2268G>A,synonymous_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,5.10,,0.00,0.00,1.27,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111970,0,0,,,,,1,86248,0,0,0,60394,0,0 -17-43093265-T-C,17,43093265,rs1064795091,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Gly,p.Arg756Gly,c.2266A>G,missense_variant,Conflicting interpretations of pathogenicity,421371,,1,628670,0.0000015906596465554266,0,0,,,16.5,0.444,0.00,0.00,1.97,0.170,0.113,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43093267-T-G,17,43093267,rs922908090,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu755Ala,p.Glu755Ala,c.2264A>C,missense_variant,Conflicting interpretations of pathogenicity,619787,,1,1461774,6.841002781551731e-7,0,0,,,11.7,0.541,0.00,0.00,0.705,0.220,0.386,0,33478,0,0,1,44722,0,0,0,26134,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093267-T-C,17,43093267,rs922908090,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu755Gly,p.Glu755Gly,c.2264A>G,missense_variant,Conflicting interpretations of pathogenicity,482906,,2,152194,0.000013141122514685205,0,0,afr,0.00000799,10.0,0.353,0.00,0.00,0.705,,,2,41464,0,0,0,15266,0,0,0,3468,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43093267-TC-T,17,43093267,rs80357960,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu755LysfsTer10,p.Glu755LysfsTer10,c.2263del,frameshift_variant,Pathogenic,54517,lof_flag,2,1461774,0.0000013682005563103463,0,0,nfe,2.999999999999999e-7,22.9,,0.00,0.0100,0.705,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,2,1111972,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093268-C-T,17,43093268,rs41286296,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu755Lys,p.Glu755Lys,c.2263G>A,missense_variant,Conflicting interpretations of pathogenicity,230102,,5,780866,0.000006403147274948583,0,0,afr,0.00003267,16.9,0.445,0.00,0.00,2.48,0.690,0.686,5,59162,0,0,0,59000,0,0,0,24454,0,0,0,41260,0,0,0,63710,0,0,0,4464,0,0,0,418096,0,0,0,912,0,0,0,74620,0,0,0,35188,0,0 -17-43093270-CCACTT-C,17,43093270,rs2053792576,CCACTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser753ArgfsTer7,p.Ser753ArgfsTer7,c.2256_2260del,frameshift_variant,Pathogenic,965126,lof_flag,1,833110,0.0000012003216862119048,0,0,,,22.6,,0.00,0.0100,0.126,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093273-C-T,17,43093273,rs878854939,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser753Asn,p.Ser753Asn,c.2258G>A,missense_variant,Conflicting interpretations of pathogenicity,240782,,3,1461778,0.0000020522952185625998,0,0,nfe,2.999999999999999e-7,10.2,0.254,0.00,0.00,1.38,0.150,0.0490,0,33478,0,0,1,44722,0,0,0,26134,0,0,0,39686,0,0,0,53374,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43093279-A-G,17,43093279,rs587781684,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met751Thr,p.Met751Thr,c.2252T>C,missense_variant,Conflicting interpretations of pathogenicity,141357,,13,1613958,0.000008054732527116567,0,0,nfe,0.00000542,6.63,0.325,0.00,0.0100,1.05,0.110,0.0170,1,74916,0,0,0,59994,0,0,0,29602,0,0,0,44888,0,0,0,64004,0,0,0,6084,0,0,12,1179990,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 -17-43093280-T-C,17,43093280,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met751Val,p.Met751Val,c.2251A>G,missense_variant,,,,1,1459988,6.849371364696148e-7,0,0,,,0.0330,0.254,0.00,0.00,-0.0840,1.00,0.00300,0,33446,0,0,0,44718,0,0,0,26120,0,0,0,39680,0,0,0,53388,0,0,0,5766,0,0,1,1110326,0,0,,,,,0,86222,0,0,0,60322,0,0 -17-43093281-G-T,17,43093281,rs1245494100,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu750Leu,p.Leu750Leu,c.2250C>A,synonymous_variant,,,,1,628670,0.0000015906596465554266,0,0,,,0.707,,0.00,0.00,0.0590,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53106,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69782,0,0,1,33096,0,0 -17-43093282-A-G,17,43093282,rs1555590048,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu750Pro,p.Leu750Pro,c.2249T>C,missense_variant,Conflicting interpretations of pathogenicity,496354,,1,833106,0.0000012003274493281767,0,0,,,4.39,0.539,0.00,0.00,-0.959,0.240,0.501,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093284-A-G,17,43093284,rs1289739423,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Asp,p.Asp749Asp,c.2247T>C,synonymous_variant,Likely benign,482956,,1,628670,0.0000015906596465554266,0,0,,,3.98,,0.00,0.00,0.309,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,1,36058,0,0,0,53106,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43093285-T-A,17,43093285,rs730881479,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp749Val,p.Asp749Val,c.2246A>T,missense_variant,Conflicting interpretations of pathogenicity,182143,,1,152178,0.000006571252086372537,0,0,,,7.73,0.454,0.00,0.00,-0.118,0.0200,0.733,1,41452,0,0,0,15260,0,0,0,3470,0,0,0,5208,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43093285-T-C,17,43093285,rs730881479,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Gly,p.Asp749Gly,c.2246A>G,missense_variant,Conflicting interpretations of pathogenicity,947747,,1,628682,0.0000015906292847576358,0,0,,,2.01,0.424,0.00,0.0100,-0.118,0.220,0.380,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43093286-C-A,17,43093286,rs80357114,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Tyr,p.Asp749Tyr,c.2245G>T,missense_variant,Conflicting interpretations of pathogenicity,54512,,2,628668,0.000003181329413935495,0,0,amr,0.000007580000000000001,16.0,0.430,0.00,0.00,3.35,0.0100,0.876,0,17692,0,0,2,43738,0,0,0,20982,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350058,0,0,,,,,0,69784,0,0,0,33094,0,0 -17-43093289-TG-T,17,43093289,rs80357650,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749IlefsTer4,p.Asp749IlefsTer4,c.2241del,frameshift_variant,Pathogenic,54510,lof_flag,1,833108,0.0000012003245677631232,0,0,,,18.9,,0.00,0.0100,-0.626,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093290-G-T,17,43093290,rs1597871237,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro747Pro,p.Pro747Pro,c.2241C>A,synonymous_variant,,,,1,628654,0.0000015907001307555508,0,0,,,1.37,,0.00,0.00,-0.0100,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,1,36058,0,0,0,53102,0,0,0,4148,0,0,0,350060,0,0,,,,,0,69782,0,0,0,33096,0,0 -17-43093295-C-T,17,43093295,rs876660267,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp746Asn,p.Asp746Asn,c.2236G>A,missense_variant,Conflicting interpretations of pathogenicity,1019393,,1,152148,0.000006572547782422378,0,0,,,17.2,0.264,0.00,0.00,2.25,,,1,41452,0,0,0,15258,0,0,0,3468,0,0,0,5202,0,0,0,10608,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4818,0,0,0,2090,0,0 -17-43093299-A-C,17,43093299,rs4986846,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala744Ala,p.Ala744Ala,c.2232T>G,synonymous_variant,Likely benign,183843,,25,1613976,0.00001548969749240385,0,0,nfe,0.00001144,5.47,,0.00,0.00,4.93,,,0,74928,0,0,0,59994,0,0,0,29600,0,0,0,44890,0,0,0,64008,0,0,2,6084,0,0,21,1180004,0,0,0,912,0,0,0,91072,0,0,2,62484,0,0 -17-43093299-A-G,17,43093299,rs4986846,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala744Ala,p.Ala744Ala,c.2232T>C,synonymous_variant,Benign,54508,,111,1614094,0.00006876922905357433,1,0,afr,0.00097457,5.81,,0.00,0.00,4.93,,,88,75050,1,0,9,60014,0,0,0,29600,0,0,0,44878,0,0,0,64008,0,0,1,6062,0,0,4,1179996,0,0,0,912,0,0,1,91068,0,0,8,62506,0,0 -17-43093300-G-A,17,43093300,rs786204220,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala744Val,p.Ala744Val,c.2231C>T,missense_variant,Conflicting interpretations of pathogenicity,1319808,,1,152150,0.000006572461386789352,0,0,,,20.5,0.474,0.00,0.00,1.18,,,0,41434,0,0,0,15270,0,0,0,3472,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 -17-43093301-C-T,17,43093301,rs786203435,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala744Thr,p.Ala744Thr,c.2230G>A,missense_variant,Likely benign,187051,,1,1461720,6.841255507210683e-7,0,0,,,0.144,0.438,0.00,0.00,-0.410,1.00,0.00600,0,33470,0,0,0,44718,0,0,1,26128,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,0,1111946,0,0,,,,,0,86226,0,0,0,60386,0,0 -17-43093301-CATT-C,17,43093301,rs769088801,CATT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743del,p.Asn743del,c.2227_2229del,inframe_deletion,,,,3,1461720,0.000002052376652163205,0,0,nfe,2.999999999999999e-7,2.62,,0.00,0.00,-0.410,,,0,33470,0,0,1,44718,0,0,0,26128,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,2,1111946,0,0,,,,,0,86226,0,0,0,60386,0,0 -17-43093303-T-G,17,43093303,rs1567796489,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743Thr,p.Asn743Thr,c.2228A>C,missense_variant,,,,1,833100,0.0000012003360941063497,0,0,,,0.0340,0.299,0.00,0.00,-1.54,0.140,0.0200,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093304-T-C,17,43093304,rs1212635015,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743Asp,p.Asn743Asp,c.2227A>G,missense_variant,,,,1,628606,0.0000015908215957213262,0,0,,,4.61,0.167,0.00,0.00,0.101,0.130,0.0140,1,17686,0,0,0,43724,0,0,0,20970,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350050,0,0,,,,,0,69768,0,0,0,33088,0,0 -17-43093307-T-C,17,43093307,rs876658733,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn742Asp,p.Asn742Asp,c.2224A>G,missense_variant,Conflicting interpretations of pathogenicity,230731,,1,152234,0.0000065688348200796145,0,0,,,1.29,0.292,0.00,0.00,-0.358,,,1,41480,0,0,0,15264,0,0,0,3468,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,0,4838,0,0,0,2094,0,0 -17-43093309-G-C,17,43093309,rs80357051,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser741Cys,p.Ser741Cys,c.2222C>G,missense_variant,Conflicting interpretations of pathogenicity,54506,,6,780774,0.000007684682123123978,0,0,nfe,0.0000061599999999999995,15.2,0.394,0.00,0.00,1.17,0.0200,0.599,0,59136,0,0,0,58992,0,0,0,24442,0,0,0,41262,0,0,0,63714,0,0,0,4464,0,0,6,418086,0,0,0,910,0,0,0,74586,0,0,0,35182,0,0 -17-43093309-G-A,17,43093309,rs80357051,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser741Phe,p.Ser741Phe,c.2222C>T,missense_variant,Conflicting interpretations of pathogenicity,54507,,3,628590,0.000004772586264496731,0,0,nfe,0.00000228,16.0,0.467,0.00,0.00,1.17,0.0300,0.733,0,17684,0,0,0,43722,0,0,0,20972,0,0,0,36058,0,0,0,53108,0,0,0,4148,0,0,3,350056,0,0,,,,,0,69754,0,0,0,33088,0,0 -17-43093311-C-T,17,43093311,rs2154391327,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Val,p.Val740Val,c.2220G>A,synonymous_variant,Likely benign,2450672,,2,833098,0.0000024006779514534903,0,0,nfe,4.4e-7,1.21,,0.00,0.00,0.874,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093313-C-G,17,43093313,rs80357415,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Leu,p.Val740Leu,c.2218G>C,missense_variant,Conflicting interpretations of pathogenicity,54505,,2,1461498,0.000001368458937336897,0,0,nfe,2.999999999999999e-7,0.851,0.338,0.00,0.00,0.719,0.0700,0.0680,0,33420,0,0,0,44638,0,0,0,26118,0,0,0,39688,0,0,0,53388,0,0,0,5768,0,0,2,1111922,0,0,,,,,0,86190,0,0,0,60366,0,0 -17-43093313-C-A,17,43093313,rs80357415,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Leu,p.Val740Leu,c.2218G>T,missense_variant,Conflicting interpretations of pathogenicity,185481,,3,1461498,0.000002052688406005345,0,0,,,0.806,0.338,0.00,0.00,0.719,0.0700,0.0680,0,33420,0,0,0,44638,0,0,0,26118,0,0,0,39688,0,0,0,53388,0,0,2,5768,0,0,1,1111922,0,0,,,,,0,86190,0,0,0,60366,0,0 -17-43093314-T-C,17,43093314,rs200521980,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Lys,p.Lys739Lys,c.2217A>G,synonymous_variant,Likely benign,415580,,17,1461478,0.000011632060147330306,0,0,sas,0.00012481,2.50,,0.00,0.0100,-0.422,,,0,33418,0,0,0,44634,0,0,0,26116,0,0,0,39688,0,0,0,53384,0,0,0,5768,0,0,0,1111914,0,0,,,,,17,86186,0,0,0,60370,0,0 -17-43093315-T-TA,17,43093315,,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739IlefsTer4,p.Lys739IlefsTer4,c.2215_2216insT,frameshift_variant,,,lof_flag,1,628378,0.0000015913988077240132,0,0,,,22.8,,0.00,0.0200,0.0840,,,0,17636,0,0,0,43650,0,0,0,20964,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,1,350004,0,0,,,,,0,69732,0,0,0,33072,0,0 -17-43093316-T-C,17,43093316,rs56329598,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Glu,p.Lys739Glu,c.2215A>G,missense_variant,Conflicting interpretations of pathogenicity,481479,,5,1461466,0.000003421222252176924,0,0,nfe,8.4e-7,16.1,0.400,0.00,0.0100,2.78,0.0300,0.0290,0,33412,0,0,1,44642,0,0,0,26116,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,4,1111906,0,0,,,,,0,86184,0,0,0,60368,0,0 -17-43093316-T-TA,17,43093316,rs80357574,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Ter,p.Lys739Ter,c.2214dup,frameshift_variant,Pathogenic,186881,lof_flag,1,1461466,6.842444504353847e-7,0,0,,,22.1,,0.00,0.0100,2.78,,,0,33412,0,0,0,44642,0,0,0,26116,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,0,1111906,0,0,,,,,1,86184,0,0,0,60368,0,0 -17-43093319-C-T,17,43093319,rs2154392681,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val738Ile,p.Val738Ile,c.2212G>A,missense_variant,,,,1,628352,0.0000015914646567529029,0,0,,,0.00200,0.185,0.00,0.00,-1.74,1.00,0.0100,0,17612,0,0,0,43646,0,0,0,20964,0,0,0,36058,0,0,0,53112,0,0,0,4148,0,0,0,350012,0,0,,,,,1,69732,0,0,0,33068,0,0 -17-43093323-T-C,17,43093323,rs2154393302,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu736Glu,p.Glu736Glu,c.2208A>G,synonymous_variant,Likely benign,1617691,,1,833094,0.0000012003447390090433,0,0,,,1.13,,0.00,0.00,0.527,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43093324-T-G,17,43093324,rs397507196,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu736Ala,p.Glu736Ala,c.2207A>C,missense_variant,Benign/Likely benign,37455,,6,1613432,0.0000037187808348910893,0,0,,,10.3,0.450,0.00,0.00,-0.182,0.160,0.217,0,74798,0,0,1,59856,0,0,0,29582,0,0,1,44890,0,0,0,64014,0,0,0,6084,0,0,0,1179892,0,0,0,912,0,0,0,90964,0,0,4,62440,0,0 -17-43093328-G-C,17,43093328,rs587781781,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu735Val,p.Leu735Val,c.2203C>G,missense_variant,Conflicting interpretations of pathogenicity,141481,,2,833092,0.0000024006952413418927,0,0,nfe,4.4e-7,7.25,0.539,0.00,0.00,0.679,0.0800,0.549,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093329-T-G,17,43093329,rs1475423886,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys734Asn,p.Lys734Asn,c.2202A>C,missense_variant,,,,1,628112,0.000001592072751356446,0,0,,,0.0670,0.117,0.00,0.00,-0.0500,1.00,0.00100,0,17558,0,0,0,43598,0,0,0,20952,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,1,349968,0,0,,,,,0,69678,0,0,0,33052,0,0 -17-43093329-TTTCTC-T,17,43093329,rs80357507,TTTCTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu733ThrfsTer5,p.Glu733ThrfsTer5,c.2197_2201del,frameshift_variant,Pathogenic,54495,lof_flag,2,780296,0.0000025631298891702638,0,0,,,22.1,,0.00,0.0100,-0.0500,,,0,58998,0,0,0,58874,0,0,0,24422,0,0,0,41256,0,0,0,63720,0,0,0,4464,0,0,2,417998,0,0,0,912,0,0,0,74510,0,0,0,35142,0,0 -17-43093332-CTCT-C,17,43093332,rs1167268646,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu733del,p.Glu733del,c.2196_2198del,inframe_deletion,Uncertain significance,801064,,1,628100,0.0000015921031682853049,0,0,,,7.87,,0.00,0.00,0.998,,,0,17564,0,0,0,43600,0,0,0,20952,0,0,1,36056,0,0,0,53096,0,0,0,4148,0,0,0,349970,0,0,,,,,0,69668,0,0,0,33046,0,0 -17-43093334-CTTCTTT-C,17,43093334,rs1394201588,CTTCTTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys731_Glu732del,p.Lys731_Glu732del,c.2191_2196del,inframe_deletion,Uncertain significance,489709,,1,628080,0.000001592153865749586,0,0,,,8.20,,0.00,0.00,2.08,,,0,17560,0,0,0,43602,0,0,0,20952,0,0,0,36052,0,0,0,53090,0,0,0,4148,0,0,1,349942,0,0,,,,,0,69676,0,0,0,33058,0,0 -17-43093336-T-G,17,43093336,rs876660463,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu732Ala,p.Glu732Ala,c.2195A>C,missense_variant,Conflicting interpretations of pathogenicity,233526,,1,152206,0.000006570043230884459,0,0,,,9.92,0.404,0.00,0.00,0.461,,,1,41466,0,0,0,15278,0,0,0,3470,0,0,0,5204,0,0,0,10616,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43093337-C-A,17,43093337,rs80357426,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu732Ter,p.Glu732Ter,c.2194G>T,stop_gained,Pathogenic,54492,lof_flag,2,985268,0.000002029904553887876,0,0,,,33.0,,0.00,0.0100,0.727,,,1,57228,0,0,0,16260,0,0,0,8622,0,0,0,8830,0,0,0,10890,0,0,0,1936,0,0,1,829906,0,0,0,912,0,0,0,21294,0,0,0,29390,0,0 -17-43093339-T-C,17,43093339,rs1415985638,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys731Arg,p.Lys731Arg,c.2192A>G,missense_variant,,,,1,628062,0.0000015921994962280793,0,0,,,0.148,0.390,0.00,0.00,-1.26,0.510,0.00,0,17556,0,0,0,43602,0,0,0,20952,0,0,0,36054,0,0,0,53092,0,0,0,4148,0,0,1,349950,0,0,,,,,0,69666,0,0,0,33042,0,0 -17-43093341-TTCTTC-T,17,43093341,rs886040007,TTCTTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu729LysfsTer9,p.Glu729LysfsTer9,c.2185_2189del,frameshift_variant,Pathogenic,266230,lof_flag,1,628096,0.0000015921133075198695,0,0,,,22.1,,0.00,0.0100,0.165,,,0,17556,0,0,0,43594,0,0,0,20958,0,0,1,36054,0,0,0,53102,0,0,0,4148,0,0,0,349966,0,0,,,,,0,69666,0,0,0,33052,0,0 -17-43093342-T-G,17,43093342,rs2154394845,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu730Ala,p.Glu730Ala,c.2189A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.64,0.388,0.00,0.00,0.479,0.0800,0.369,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093347-T-A,17,43093347,rs2154395074,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg728Ser,p.Arg728Ser,c.2184A>T,missense_variant,,,,1,628118,0.000001592057543327846,0,0,,,21.0,0.495,0.00,0.00,0.971,0.0700,0.461,0,17582,0,0,0,43610,0,0,0,20950,0,0,0,36058,0,0,0,53070,0,0,0,4148,0,0,1,349962,0,0,,,,,0,69692,0,0,0,33046,0,0 -17-43093348-C-T,17,43093348,rs80357335,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg728Lys,p.Arg728Lys,c.2183G>A,missense_variant,Conflicting interpretations of pathogenicity,54487,,14,1613300,0.000008677865245149693,0,0,nfe,0.00000429,8.20,0.347,0.00,0.00,0.806,0.460,0.491,0,74826,0,0,0,59862,0,0,0,29566,0,0,0,44882,0,0,1,63954,0,0,0,6084,0,0,10,1179836,0,0,0,912,0,0,0,90942,0,0,3,62436,0,0 -17-43093351-G-A,17,43093351,rs80356912,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro727Leu,p.Pro727Leu,c.2180C>T,missense_variant,Benign,54486,,4,1461152,0.0000027375659753400056,0,0,nfe,7.200000000000001e-7,10.9,0.364,0.00,0.00,-0.0210,0.0700,0.0150,0,33382,0,0,0,44582,0,0,0,26096,0,0,0,39688,0,0,0,53350,0,0,0,5768,0,0,3,1111834,0,0,,,,,0,86110,0,0,1,60342,0,0 -17-43093355-G-A,17,43093355,rs2053811444,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu726Phe,p.Leu726Phe,c.2176C>T,missense_variant,,,,3,985196,0.0000030450793547679854,0,0,nfe,9.6e-7,21.7,0.457,0.00,0.00,2.38,0.0800,0.364,0,57212,0,0,0,16226,0,0,0,8618,0,0,0,8830,0,0,0,10884,0,0,0,1936,0,0,3,829908,0,0,0,912,0,0,0,21286,0,0,0,29384,0,0 -17-43093357-C-T,17,43093357,rs1555590284,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser725Asn,p.Ser725Asn,c.2174G>A,missense_variant,,,,1,628540,0.000001590988640341108,0,0,,,12.6,0.310,0.00,0.00,0.754,0.180,0.0810,0,17684,0,0,0,43722,0,0,0,20962,0,0,0,36058,0,0,1,53076,0,0,0,4148,0,0,0,350048,0,0,,,,,0,69752,0,0,0,33090,0,0 -17-43093360-G-A,17,43093360,rs751104940,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro724Leu,p.Pro724Leu,c.2171C>T,missense_variant,Conflicting interpretations of pathogenicity,581291,,1,628542,0.0000015909835778675093,0,0,,,21.8,0.429,0.00,0.00,1.96,0.0200,0.728,0,17686,0,0,0,43718,0,0,0,20960,0,0,0,36058,0,0,0,53072,0,0,0,4148,0,0,0,350056,0,0,,,,,1,69754,0,0,0,33090,0,0 -17-43093361-G-T,17,43093361,rs2154395681,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro724Thr,p.Pro724Thr,c.2170C>A,missense_variant,,,,1,1461676,6.841461445628169e-7,0,0,,,22.0,0.435,0.00,0.00,0.150,0.0200,0.948,0,33472,0,0,0,44706,0,0,0,26130,0,0,0,39688,0,0,0,53348,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86212,0,0,0,60390,0,0 -17-43093364-T-C,17,43093364,rs4986845,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn723Asp,p.Asn723Asp,c.2167A>G,missense_variant,Benign,37454,,549,1613992,0.0003401503848841878,4,0,afr,0.00552597,8.38,0.363,0.00,0.00,-0.748,0.180,0.119,449,75044,3,0,56,59988,1,0,0,29596,0,0,0,44882,0,0,0,63998,0,0,4,6062,0,0,2,1179978,0,0,0,912,0,0,3,91028,0,0,35,62504,0,0 -17-43093367-C-A,17,43093367,rs2154395949,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val722Phe,p.Val722Phe,c.2164G>T,missense_variant,Conflicting interpretations of pathogenicity,1720088,,1,1461706,6.841321031725942e-7,0,0,,,20.3,0.563,0.00,0.0100,1.62,0.0100,0.945,1,33472,0,0,0,44708,0,0,0,26128,0,0,0,39688,0,0,0,53364,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86216,0,0,0,60390,0,0 -17-43093369-A-G,17,43093369,rs2154396157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe721Ser,p.Phe721Ser,c.2162T>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.74,0.498,0.00,0.00,-0.768,0.310,0.101,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093372-T-A,17,43093372,rs2053814550,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu720Val,p.Glu720Val,c.2159A>T,missense_variant,,,,1,152200,0.00000657030223390276,0,0,,,19.0,0.453,0.00,0.00,1.52,,,1,41464,0,0,0,15260,0,0,0,3472,0,0,0,5204,0,0,0,10618,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43093373-C-T,17,43093373,rs80356875,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu720Lys,p.Glu720Lys,c.2158G>A,missense_variant,Conflicting interpretations of pathogenicity,54479,,1,628614,0.000001590801350272186,0,0,,,15.9,0.548,0.00,0.00,5.01,0.0700,0.678,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69760,0,0,0,33094,0,0 -17-43093374-T-C,17,43093374,rs1597871809,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys719Lys,p.Lys719Lys,c.2157A>G,synonymous_variant,Likely benign,820811,,2,1461742,0.000001368230508530233,0,0,,,6.61,,0.00,0.00,0.590,,,0,33474,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53370,0,0,1,5768,0,0,1,1111980,0,0,,,,,0,86228,0,0,0,60392,0,0 -17-43093376-T-C,17,43093376,rs80357147,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys719Glu,p.Lys719Glu,c.2155A>G,missense_variant,Benign,37452,,67,1614060,0.00004151022886385884,0,0,afr,0.0006850300000000001,12.7,0.404,0.00,0.00,0.218,0.0700,0.0170,64,75066,0,0,0,59998,0,0,0,29600,0,0,0,44876,0,0,0,63994,0,0,0,6062,0,0,0,1179994,0,0,0,912,0,0,0,91052,0,0,3,62506,0,0 -17-43093377-A-C,17,43093377,rs779227326,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu718Leu,p.Leu718Leu,c.2154T>G,synonymous_variant,Likely benign,427293,,6,628636,0.000009544474067663959,0,0,,,6.28,,0.00,0.00,3.44,,,0,17690,0,0,0,43726,0,0,0,20978,0,0,0,36056,0,0,3,53096,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69776,0,0,3,33094,0,0 -17-43093378-A-C,17,43093378,rs748550848,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu718Arg,p.Leu718Arg,c.2153T>G,missense_variant,Conflicting interpretations of pathogenicity,482963,,3,1461762,0.0000020523176823586878,0,0,nfe,2.999999999999999e-7,6.83,0.524,0.00,0.00,0.397,0.200,0.566,0,33476,0,0,1,44714,0,0,0,26126,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,2,1111984,0,0,,,,,0,86236,0,0,0,60392,0,0 -17-43093380-T-C,17,43093380,rs2154396785,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Glu,p.Glu717Glu,c.2151A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,0.774,,0.00,0.00,-0.0480,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093382-C-T,17,43093382,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Lys,p.Glu717Lys,c.2149G>A,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,1.32,0.307,0.00,0.00,0.513,1.00,0.00100,0,33476,0,0,0,44718,0,0,0,26128,0,0,0,39686,0,0,0,53376,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86228,0,0,0,60388,0,0 -17-43093382-C-A,17,43093382,rs886040004,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Ter,p.Glu717Ter,c.2149G>T,stop_gained,Pathogenic,266226,lof_flag,1,1461756,6.841087021363347e-7,0,0,,,32.0,,0.00,0.0100,0.513,,,0,33476,0,0,0,44718,0,0,0,26128,0,0,0,39686,0,0,0,53376,0,0,0,5768,0,0,0,1111988,0,0,,,,,1,86228,0,0,0,60388,0,0 -17-43093383-A-G,17,43093383,rs730881478,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser716Ser,p.Ser716Ser,c.2148T>C,synonymous_variant,Likely benign,1085588,,2,1461788,0.0000013681874526265095,0,0,nfe,2.999999999999999e-7,3.12,,0.00,0.00,0.571,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39688,0,0,0,53380,0,0,0,5768,0,0,2,1111988,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43093385-T-C,17,43093385,rs2053817086,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser716Gly,p.Ser716Gly,c.2146A>G,missense_variant,Conflicting interpretations of pathogenicity,1172246,,2,985296,0.0000020298468683522516,0,0,,,3.95,0.221,0.00,0.00,0.258,0.250,0.0120,0,57244,0,0,0,16252,0,0,0,8622,0,0,0,8832,0,0,0,10896,0,0,0,1936,0,0,0,829918,0,0,0,910,0,0,2,21294,0,0,0,29392,0,0 -17-43093386-G-C,17,43093386,rs1461142307,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr715Thr,p.Thr715Thr,c.2145C>G,synonymous_variant,,,,1,628650,0.000001590710252127575,0,0,,,0.848,,0.00,0.00,0.681,,,0,17690,0,0,1,43734,0,0,0,20974,0,0,0,36058,0,0,0,53090,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69784,0,0,0,33092,0,0 -17-43093391-T-C,17,43093391,rs568312345,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn714Asp,p.Asn714Asp,c.2140A>G,missense_variant,Conflicting interpretations of pathogenicity,922899,,2,985416,0.00000202959968175877,0,0,,,1.78,0.379,0.00,0.00,-0.491,0.210,0.281,0,57362,0,0,0,16264,0,0,0,8618,0,0,0,8818,0,0,0,10906,0,0,0,1914,0,0,0,829920,0,0,0,910,0,0,1,21292,0,0,1,29412,0,0 -17-43093392-T-G,17,43093392,rs1131692089,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser713Ser,p.Ser713Ser,c.2139A>C,synonymous_variant,Likely benign,427279,,9,1461796,0.000006156809842139395,0,0,nfe,0.00000194,1.71,,0.00,0.00,-0.144,,,0,33480,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53374,0,0,0,5766,0,0,6,1111992,0,0,,,,,0,86254,0,0,3,60392,0,0 -17-43093393-G-C,17,43093393,rs80357233,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser713Ter,p.Ser713Ter,c.2138C>G,stop_gained,Pathogenic,37451,lof_flag,2,152104,0.000013148898122337348,0,0,nfe,0.00000488,33.0,,0.00,0.00,1.82,,,0,41422,0,0,0,15256,0,0,0,3468,0,0,0,5198,0,0,0,10602,0,0,0,316,0,0,2,68008,0,0,0,910,0,0,0,4830,0,0,0,2094,0,0 -17-43093400-T-C,17,43093400,rs747046197,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys711Glu,p.Lys711Glu,c.2131A>G,missense_variant,Conflicting interpretations of pathogenicity,229793,,1,628678,0.0000015906394052281136,0,0,,,8.35,0.436,0.00,0.00,1.68,0.180,0.0270,0,17694,0,0,0,43734,0,0,0,20978,0,0,1,36060,0,0,0,53104,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43093401-A-C,17,43093401,rs273898678,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr710Thr,p.Thr710Thr,c.2130T>G,synonymous_variant,Likely benign,54474,,1,628696,0.0000015905938641251098,0,0,,,1.68,,0.00,0.00,0.816,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36060,0,0,0,53108,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093403-T-C,17,43093403,rs876659959,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr710Ala,p.Thr710Ala,c.2128A>G,missense_variant,Conflicting interpretations of pathogenicity,232737,,1,833108,0.0000012003245677631232,0,0,,,1.82,0.562,0.00,0.00,-0.110,0.180,0.759,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093405-A-G,17,43093405,rs1567796937,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe709Ser,p.Phe709Ser,c.2126T>C,missense_variant,Conflicting interpretations of pathogenicity,1387599,,1,628692,0.0000015906039841448595,0,0,,,8.67,0.400,0.00,0.00,0.609,0.310,0.217,0,17694,0,0,0,43732,0,0,0,20978,0,0,0,36060,0,0,0,53106,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43093408-G-T,17,43093408,rs80357182,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser708Tyr,p.Ser708Tyr,c.2123C>A,missense_variant,Conflicting interpretations of pathogenicity,37447,,61,1613916,0.000037796266968045424,0,0,sas,0.0002925600000000001,0.0390,0.466,0.00,0.00,0.524,0.880,0.0120,0,74924,0,0,1,59968,0,0,0,29600,0,0,0,44884,0,0,0,63990,0,0,1,6084,0,0,19,1180000,0,0,0,910,0,0,36,91076,0,0,4,62480,0,0 -17-43093408-G-A,17,43093408,rs80357182,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser708Phe,p.Ser708Phe,c.2123C>T,missense_variant,Conflicting interpretations of pathogenicity,91576,,25,1461790,0.000017102319758652065,0,0,nfe,0.000014599999999999999,0.222,0.226,0.00,0.00,0.524,1.00,0.00100,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53374,0,0,0,5768,0,0,24,1111984,0,0,,,,,0,86252,0,0,1,60392,0,0 -17-43093411-C-T,17,43093411,rs80357192,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly707Asp,p.Gly707Asp,c.2120G>A,missense_variant,Conflicting interpretations of pathogenicity,54468,,6,1461790,0.000004104556742076495,0,0,afr,0.00005848999999999997,0.557,0.540,0.00,0.00,-1.13,0.0900,0.250,5,33480,0,0,0,44720,0,0,0,26128,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43093412-C-T,17,43093412,rs587781420,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly707Ser,p.Gly707Ser,c.2119G>A,missense_variant,,,,2,1461778,0.0000013681968123750666,0,0,,,2.90,0.469,0.00,0.00,-0.00600,0.290,0.395,0,33480,0,0,0,44718,0,0,0,26128,0,0,0,39690,0,0,0,53378,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86254,0,0,1,60390,0,0 -17-43093412-C-G,17,43093412,rs587781420,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly707Arg,p.Gly707Arg,c.2119G>C,missense_variant,Conflicting interpretations of pathogenicity,140990,,1,152114,0.0000065740168557792186,0,0,,,9.62,0.437,0.00,0.00,-0.00600,,,1,41434,0,0,0,15252,0,0,0,3472,0,0,0,5194,0,0,0,10600,0,0,0,316,0,0,0,68018,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 -17-43093414-G-A,17,43093414,rs759655692,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro706Leu,p.Pro706Leu,c.2117C>T,missense_variant,Conflicting interpretations of pathogenicity,628627,,1,628678,0.0000015906394052281136,0,0,,,21.6,0.330,0.00,0.00,3.74,0.0600,0.783,0,17694,0,0,0,43734,0,0,0,20976,0,0,0,36060,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33092,0,0 -17-43093422-T-C,17,43093422,rs4986844,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr703Thr,p.Thr703Thr,c.2109A>G,synonymous_variant,Benign,54461,,414,1614070,0.00025649445191348576,2,0,afr,0.004616600000000001,3.83,,0.00,0.00,0.628,,,378,75062,2,0,17,60000,0,0,0,29598,0,0,0,44882,0,0,0,64004,0,0,0,6062,0,0,2,1179958,0,0,0,912,0,0,1,91084,0,0,16,62508,0,0 -17-43093423-G-A,17,43093423,rs1302055573,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr703Ile,p.Thr703Ile,c.2108C>T,missense_variant,Conflicting interpretations of pathogenicity,441434,,2,1461726,0.0000013682454851319603,0,0,nfe,2.999999999999999e-7,13.1,0.421,0.00,0.00,2.55,0.0200,0.771,0,33480,0,0,0,44714,0,0,0,26126,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,2,1111940,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43093428-C-T,17,43093428,rs273898677,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys701Lys,p.Lys701Lys,c.2103G>A,synonymous_variant,Likely benign,54459,,1,628662,0.000001590679888397899,0,0,,,0.168,,0.00,0.00,-0.385,,,0,17694,0,0,0,43730,0,0,0,20978,0,0,0,36058,0,0,0,53098,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43093433-G-C,17,43093433,rs775424259,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu700Val,p.Leu700Val,c.2098C>G,missense_variant,Conflicting interpretations of pathogenicity,1330120,,1,628668,0.0000015906647069677476,0,0,,,0.0860,0.598,0.0200,0.0300,0.292,0.270,0.444,0,17694,0,0,1,43728,0,0,0,20980,0,0,0,36058,0,0,0,53104,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69794,0,0,0,33088,0,0 -17-43093434-C-G,17,43093434,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu699Asp,p.Glu699Asp,c.2097G>C,missense_variant,,,,1,833070,0.0000012003793198650773,0,0,,,0.248,0.616,0.00,0.00,0.0110,0.130,0.893,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761866,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43093438-G-A,17,43093438,rs1555590478,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro698Leu,p.Pro698Leu,c.2093C>T,missense_variant,Conflicting interpretations of pathogenicity,482905,,7,1461734,0.000004788832988765398,0,0,nfe,0.00000194,18.9,0.436,0.00,0.00,2.77,0.0600,0.819,0,33480,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,6,1111938,0,0,,,,,0,86252,0,0,1,60392,0,0 -17-43093440-G-A,17,43093440,rs2154399882,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe697Phe,p.Phe697Phe,c.2091C>T,synonymous_variant,,,,1,628666,0.0000015906697674122666,0,0,,,4.60,,0.00,0.00,1.10,,,0,17694,0,0,0,43734,0,0,0,20980,0,0,1,36058,0,0,0,53094,0,0,0,4148,0,0,0,350070,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43093444-G-C,17,43093444,rs1334969117,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ser,p.Thr696Ser,c.2087C>G,missense_variant,,,,1,1461746,6.841133822155149e-7,0,0,,,3.34,0.442,0.00,0.00,0.271,0.200,0.0210,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,1,1111936,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43093444-G-A,17,43093444,rs1334969117,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ile,p.Thr696Ile,c.2087C>T,missense_variant,Conflicting interpretations of pathogenicity,861683,,1,1461746,6.841133822155149e-7,0,0,,,10.7,0.552,0.00,0.00,0.271,0.0300,0.0620,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,0,1111936,0,0,,,,,1,86252,0,0,0,60390,0,0 -17-43093445-T-C,17,43093445,rs80357441,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ala,p.Thr696Ala,c.2086A>G,missense_variant,Conflicting interpretations of pathogenicity,54457,,1,628688,0.0000015906141042933855,0,0,,,0.150,0.412,0.00,0.00,0.179,1.00,0.00100,0,17694,0,0,0,43732,0,0,0,20978,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33094,0,0 -17-43093448-C-A,17,43093448,rs28897681,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp695Tyr,p.Asp695Tyr,c.2083G>T,missense_variant,Benign,54456,,61,1613910,0.00003779640748244946,0,0,nfe,0.0000315,20.8,0.483,0.00,0.00,0.214,0.0100,0.836,0,74906,0,0,0,59994,0,0,0,29600,0,0,0,44888,0,0,10,63990,0,0,0,6084,0,0,48,1179968,0,0,0,912,0,0,0,91086,0,0,3,62482,0,0 -17-43093448-C-T,17,43093448,rs28897681,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp695Asn,p.Asp695Asn,c.2083G>A,missense_variant,Conflicting interpretations of pathogenicity,54455,,10,1613910,0.0000061961323741720415,0,0,afr,0.000025500000000000003,12.8,0.248,0.00,0.00,0.214,0.100,0.545,5,74906,0,0,0,59994,0,0,0,29600,0,0,0,44888,0,0,0,63990,0,0,0,6084,0,0,2,1179968,0,0,0,912,0,0,0,91086,0,0,3,62482,0,0 -17-43093449-G-A,17,43093449,rs1799949,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser694Ser,p.Ser694Ser,c.2082C>T,synonymous_variant,Benign,125536,,542412,1613688,0.3361318916667906,93409,0,sas,0.4951560099999999,2.62,,0.00,0.00,-0.0510,,,17376,74932,2050,0,19325,59978,3172,0,10816,29602,1961,0,15910,44866,2873,0,25390,63896,5017,0,2239,6058,436,0,384522,1179890,62596,0,258,904,40,0,45439,91060,11643,0,21137,62502,3621,0 -17-43093449-G-C,17,43093449,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Arg,p.Ser694Arg,c.2082C>G,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,15.3,0.542,0.00,0.00,-0.0510,0.0400,0.531,0,33480,0,0,0,44712,0,0,0,26132,0,0,1,39688,0,0,0,53374,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093450-C-T,17,43093450,rs431825388,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Asn,p.Ser694Asn,c.2081G>A,missense_variant,Conflicting interpretations of pathogenicity,96904,,5,1461742,0.000003420576271325583,0,0,nfe,0.0000013199999999999999,7.08,0.420,0.00,0.00,-0.0570,0.150,0.199,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,5,1111932,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43093451-T-A,17,43093451,rs2154400472,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Cys,p.Ser694Cys,c.2080A>T,missense_variant,,,,1,833064,0.0000012003879653904143,0,0,,,17.0,0.442,0.00,0.00,-0.437,0.00,0.967,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43093453-T-C,17,43093453,rs756748588,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp693Gly,p.Asp693Gly,c.2078A>G,missense_variant,Conflicting interpretations of pathogenicity,630129,,13,628674,0.000020678443835755892,0,0,,,6.95,0.388,0.00,0.00,0.540,0.0600,0.00,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,12,53110,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69788,0,0,0,33092,0,0 -17-43093454-CAT-C,17,43093454,rs397508936,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His692ArgfsTer19,p.His692ArgfsTer19,c.2075_2076del,frameshift_variant,Pathogenic,54452,lof_flag,1,1461746,6.841133822155149e-7,0,0,,,18.7,,0.00,0.00,-0.313,,,0,33480,0,0,0,44720,0,0,0,26130,0,0,1,39688,0,0,0,53376,0,0,0,5768,0,0,0,1111948,0,0,,,,,0,86244,0,0,0,60392,0,0 -17-43093454-C-T,17,43093454,rs4986850,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp693Asn,p.Asp693Asn,c.2077G>A,missense_variant,Benign,41808,,112589,1613950,0.0697599058211221,4445,0,nfe,0.07772215,16.0,0.126,0.00,0.00,-0.313,0.0800,0.0100,1736,75020,27,0,2426,60016,64,0,2707,29598,136,0,7,44878,1,0,5615,63962,273,0,451,6062,22,0,92206,1179928,3650,0,43,912,0,0,3254,91070,101,0,4144,62504,171,0 -17-43093455-A-T,17,43093455,rs587782595,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His692Gln,p.His692Gln,c.2076T>A,missense_variant,Conflicting interpretations of pathogenicity,142622,,4,1461752,0.0000027364422966412906,0,0,nfe,8.4e-7,4.31,0.558,0.00,0.00,-0.408,0.320,0.102,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,4,1111948,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43093456-T-C,17,43093456,rs2053831947,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His692Arg,p.His692Arg,c.2075A>G,missense_variant,Conflicting interpretations of pathogenicity,1785447,,5,1613960,0.0000030979702099184616,0,0,nfe,7.899999999999998e-7,0.616,0.462,0.00,0.00,-1.32,0.380,0.0380,0,74936,0,0,0,59998,0,0,0,29594,0,0,0,44888,0,0,1,64002,0,0,0,6084,0,0,4,1179974,0,0,0,912,0,0,0,91088,0,0,0,62484,0,0 -17-43093457-G-A,17,43093457,rs545736576,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His692Tyr,p.His692Tyr,c.2074C>T,missense_variant,Conflicting interpretations of pathogenicity,433700,,13,1614012,0.000008054463039927831,0,0,sas,0.00007505999999999999,0.437,0.473,0.00,0.00,-0.0870,1.00,0.0620,0,75036,0,0,1,59996,0,0,0,29598,0,0,0,44878,0,0,0,63984,0,0,0,6060,0,0,0,1179960,0,0,0,912,0,0,12,91080,0,0,0,62508,0,0 -17-43093459-CT-C,17,43093459,rs80357688,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg691AspfsTer10,p.Arg691AspfsTer10,c.2071del,frameshift_variant,Pathogenic,37444,lof_flag,5,1461742,0.000003420576271325583,0,0,nfe,0.0000013199999999999999,22.7,,0.00,0.0100,0.306,,,0,33480,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53370,0,0,0,5768,0,0,5,1111946,0,0,,,,,0,86248,0,0,0,60390,0,0 -17-43093462-T-C,17,43093462,rs2154401162,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys690Arg,p.Lys690Arg,c.2069A>G,missense_variant,Conflicting interpretations of pathogenicity,1395723,,2,833080,0.000002400729821865847,0,0,nfe,4.4e-7,16.2,0.464,0.00,0.00,0.931,0.160,0.819,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761876,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43093463-T-C,17,43093463,rs587781448,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys690Glu,p.Lys690Glu,c.2068A>G,missense_variant,Conflicting interpretations of pathogenicity,141034,,4,1461766,0.0000027364160884847507,0,0,eas,0.00002004,15.6,0.556,0.00,0.00,0.672,0.190,0.773,0,33480,0,0,0,44718,0,0,0,26128,0,0,3,39688,0,0,0,53388,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86250,0,0,0,60390,0,0 -17-43093465-C-T,17,43093465,rs779748579,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser689Asn,p.Ser689Asn,c.2066G>A,missense_variant,Conflicting interpretations of pathogenicity,1720073,,1,628678,0.0000015906394052281136,0,0,,,0.250,0.261,0.00,0.00,0.168,0.710,0.00900,0,17694,0,0,0,43734,0,0,0,20980,0,0,0,36056,0,0,0,53104,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69792,0,0,0,33094,0,0 -17-43093466-T-C,17,43093466,rs876660188,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser689Gly,p.Ser689Gly,c.2065A>G,missense_variant,Conflicting interpretations of pathogenicity,233092,,2,1461766,0.0000013682080442423753,0,0,nfe,2.999999999999999e-7,12.3,0.355,0.0700,0.0900,1.74,0.200,0.0200,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39688,0,0,0,53388,0,0,0,5768,0,0,2,1111952,0,0,,,,,0,86248,0,0,0,60392,0,0 -17-43093469-T-C,17,43093469,rs1597872432,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr688Ala,p.Thr688Ala,c.2062A>G,missense_variant,Conflicting interpretations of pathogenicity,820629,,4,1461772,0.0000027364048565713394,0,0,nfe,8.4e-7,7.23,0.364,0.0500,0.130,0.0710,0.490,0.0620,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39688,0,0,0,53386,0,0,0,5766,0,0,4,1111964,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093471-T-G,17,43093471,rs28897680,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln687Pro,p.Gln687Pro,c.2060A>C,missense_variant,Conflicting interpretations of pathogenicity,37443,,82,1614138,0.000050801108703221165,0,0,nfe,0.00005381,21.4,0.531,0.00,0.00,1.03,0.0100,0.519,2,75064,0,0,0,60014,0,0,0,29602,0,0,0,44882,0,0,0,64010,0,0,0,6062,0,0,78,1180006,0,0,0,912,0,0,0,91080,0,0,2,62506,0,0 -17-43093473-T-A,17,43093473,rs1262148583,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu686Asp,p.Glu686Asp,c.2058A>T,missense_variant,Conflicting interpretations of pathogenicity,619622,,1,628684,0.0000015906242245706906,0,0,,,15.2,0.519,0.00,0.00,0.564,0.0800,0.838,0,17694,0,0,1,43732,0,0,0,20980,0,0,0,36060,0,0,0,53108,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43093476-A-T,17,43093476,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Lys,p.Asn685Lys,c.2055T>A,missense_variant,,,,3,1461790,0.0000020522783710382476,0,0,nfe,7.200000000000001e-7,5.73,0.379,0.00,0.00,-0.0870,0.100,0.178,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,3,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093476-A-G,17,43093476,rs1555590600,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Asn,p.Asn685Asn,c.2055T>C,synonymous_variant,Likely benign,485389,,1,1461790,6.840927903460826e-7,0,0,,,2.19,,0.00,0.00,-0.0870,,,0,33480,0,0,0,44716,0,0,0,26130,0,0,1,39690,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093477-T-A,17,43093477,rs2154401896,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Ile,p.Asn685Ile,c.2054A>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,19.4,0.367,0.00,0.00,-0.144,0.0200,0.781,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093479-T-G,17,43093479,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro684Pro,p.Pro684Pro,c.2052A>C,synonymous_variant,,,,1,628684,0.0000015906242245706906,0,0,,,8.98,,0.00,0.00,0.481,,,0,17694,0,0,0,43736,0,0,0,20978,0,0,0,36060,0,0,0,53104,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43093479-T-C,17,43093479,rs2053836204,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro684Pro,p.Pro684Pro,c.2052A>G,synonymous_variant,,,,1,152238,0.0000065686622262510016,0,0,,,9.27,,0.00,0.00,0.481,,,0,41468,0,0,0,15268,0,0,0,3468,0,0,0,5206,0,0,0,10632,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,1,4836,0,0,0,2088,0,0 -17-43093481-G-A,17,43093481,rs397508934,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro684Ser,p.Pro684Ser,c.2050C>T,missense_variant,Conflicting interpretations of pathogenicity,54447,,24,1613914,0.000014870680841730104,0,0,nfe,0.00001298,11.3,0.488,0.00,0.00,1.50,0.120,0.137,1,74910,0,0,0,59978,0,0,0,29600,0,0,0,44892,0,0,0,63986,0,0,0,6084,0,0,23,1179994,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 -17-43093482-C-T,17,43093482,rs778215185,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys683Lys,p.Lys683Lys,c.2049G>A,synonymous_variant,Likely benign,427345,,4,780882,0.0000051224128613542125,0,0,sas,0.000017510000000000003,4.68,,0.00,0.00,-0.00700,,,0,59156,0,0,0,59004,0,0,0,24450,0,0,0,41264,0,0,0,63710,0,0,0,4464,0,0,0,418110,0,0,0,912,0,0,4,74630,0,0,0,35182,0,0 -17-43093483-T-C,17,43093483,rs1060502357,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys683Arg,p.Lys683Arg,c.2048A>G,missense_variant,Conflicting interpretations of pathogenicity,409357,,7,1614028,0.000004336975566718793,0,0,eas,0.00001772,21.1,0.526,0.00,0.00,1.05,0.0300,0.250,4,74948,0,0,0,59986,0,0,0,29600,0,0,3,44894,0,0,0,64012,0,0,0,6084,0,0,0,1180022,0,0,0,912,0,0,0,91086,0,0,0,62484,0,0 -17-43093485-G-T,17,43093485,rs2154402217,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn682Lys,p.Asn682Lys,c.2046C>A,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,0.0140,0.364,0.00,0.00,-1.34,0.240,0.425,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53364,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43093488-A-C,17,43093488,rs143920945,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser681Arg,p.Ser681Arg,c.2043T>G,missense_variant,Conflicting interpretations of pathogenicity,230089,,1,151838,0.000006585966622321158,0,0,,,2.60,0.530,0.00,0.00,0.128,,,1,41306,0,0,0,15242,0,0,0,3470,0,0,0,5180,0,0,0,10568,0,0,0,316,0,0,0,67946,0,0,0,912,0,0,0,4808,0,0,0,2090,0,0 -17-43093489-CTCT-C,17,43093489,rs1597872534,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys680del,p.Lys680del,c.2039_2041del,inframe_deletion,Uncertain significance,820571,,1,1461788,6.840937263132548e-7,0,0,,,8.13,,0.00,0.00,-0.169,,,0,33480,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53374,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093489-C-T,17,43093489,rs1452826319,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser681Asn,p.Ser681Asn,c.2042G>A,missense_variant,Conflicting interpretations of pathogenicity,630466,,3,1461788,0.0000020522811789397644,0,0,nfe,2.999999999999999e-7,0.314,0.310,0.00,0.00,-0.169,0.490,0.0130,1,33480,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53374,0,0,0,5768,0,0,2,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093494-C-T,17,43093494,rs572835027,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys679Lys,p.Lys679Lys,c.2037G>A,synonymous_variant,Likely benign,427303,,2,152306,0.000013131459036413535,0,0,eas,0.00006817999999999999,1.56,,0.0100,0.0100,0.178,,,0,41558,0,0,0,15286,0,0,0,3472,0,0,2,5192,0,0,0,10626,0,0,0,294,0,0,0,68024,0,0,0,912,0,0,0,4830,0,0,0,2112,0,0 -17-43093496-T-A,17,43093496,rs80357082,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys679Ter,p.Lys679Ter,c.2035A>T,stop_gained,Pathogenic,54442,lof_flag,4,1461786,0.000002736378649131952,0,0,nfe,8.4e-7,34.0,,0.00,0.00,-0.156,,,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,4,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093496-T-G,17,43093496,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys679Gln,p.Lys679Gln,c.2035A>C,missense_variant,,,,1,1461786,6.84094662282988e-7,0,0,,,16.7,0.461,0.00,0.00,-0.156,0.0100,0.854,1,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093505-T-C,17,43093505,rs1268006720,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr676Ala,p.Thr676Ala,c.2026A>G,missense_variant,Conflicting interpretations of pathogenicity,926207,,1,833110,0.0000012003216862119048,0,0,,,0.702,0.541,0.00,0.00,-4.03,0.530,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093507-GCAGGTT-G,17,43093507,rs879254165,GCAGGTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu673_Pro674del,p.Glu673_Pro674del,c.2018_2023del,inframe_deletion,Uncertain significance,246230,,2,1461742,0.000001368230508530233,0,0,,,14.8,,0.0100,0.00,1.22,,,0,33480,0,0,1,44718,0,0,0,26134,0,0,0,39690,0,0,0,53328,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86254,0,0,1,60392,0,0 -17-43093508-C-T,17,43093508,rs1597872640,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala675Thr,p.Ala675Thr,c.2023G>A,missense_variant,Conflicting interpretations of pathogenicity,656387,,1,628642,0.0000015907304952580323,0,0,,,0.0450,0.496,0.00,0.00,-1.74,0.410,0.137,0,17694,0,0,0,43732,0,0,0,20982,0,0,0,36060,0,0,0,53060,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43093509-A-C,17,43093509,rs771519405,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro674Pro,p.Pro674Pro,c.2022T>G,synonymous_variant,Likely benign,231336,,3,628646,0.000004772161120885204,0,0,,,4.18,,0.00,0.00,-0.388,,,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36060,0,0,0,53060,0,0,2,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33092,0,0 -17-43093513-T-A,17,43093513,rs2154403692,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu673Val,p.Glu673Val,c.2018A>T,missense_variant,,,,1,833082,0.0000012003620291880032,0,0,,,23.8,0.784,0.0100,0.0100,1.75,0.00,0.989,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761880,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43093515-T-C,17,43093515,rs776542749,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys672Lys,p.Lys672Lys,c.2016A>G,synonymous_variant,Likely benign,427319,,2,1461750,0.0000013682230203523174,0,0,,,4.22,,0.0300,0.0500,1.77,,,0,33480,0,0,0,44720,0,0,0,26134,0,0,1,39688,0,0,0,53334,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093517-T-C,17,43093517,rs397508929,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys672Glu,p.Lys672Glu,c.2014A>G,missense_variant,Conflicting interpretations of pathogenicity,186344,,1,628654,0.0000015907001307555508,0,0,,,2.31,0.604,0.00,0.00,0.386,0.600,0.0600,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53060,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093523-C-T,17,43093523,rs80357029,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu670Lys,p.Glu670Lys,c.2008G>A,missense_variant,Conflicting interpretations of pathogenicity,54433,,4,628630,0.000006363043443679112,0,0,amr,0.000030320000000000004,7.79,0.532,0.00,0.00,2.27,0.330,0.219,0,17694,0,0,4,43738,0,0,0,20982,0,0,0,36058,0,0,0,53038,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093525-A-G,17,43093525,rs80356895,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met669Thr,p.Met669Thr,c.2006T>C,missense_variant,Conflicting interpretations of pathogenicity,37442,,17,1613980,0.000010532968190436064,0,0,eas,0.00022321999999999997,0.0500,0.778,0.00,0.00,-3.89,0.500,0.0600,0,75050,0,0,0,60004,0,0,0,29600,0,0,16,44856,0,0,0,63920,0,0,0,6062,0,0,0,1179996,0,0,0,912,0,0,1,91078,0,0,0,62502,0,0 -17-43093526-T-G,17,43093526,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met669Leu,p.Met669Leu,c.2005A>C,missense_variant,Conflicting interpretations of pathogenicity,1784306,,2,1461736,0.0000013682361247174592,0,0,,,0.0190,0.448,0.00,0.00,-6.47,0.650,0.0280,0,33480,0,0,0,44720,0,0,0,26134,0,0,0,39686,0,0,0,53318,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43093526-T-C,17,43093526,rs561988641,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met669Val,p.Met669Val,c.2005A>G,missense_variant,Conflicting interpretations of pathogenicity,933240,,6,1614074,0.0000037173016850528536,0,0,sas,0.000028630000000000002,0.0630,0.546,0.00,0.00,-6.47,0.240,0.0600,0,75062,0,0,0,60020,0,0,0,29606,0,0,0,44874,0,0,0,63938,0,0,0,6062,0,0,0,1180012,0,0,0,910,0,0,6,91084,0,0,0,62506,0,0 -17-43093527-G-T,17,43093527,rs1057520832,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu668Leu,p.Leu668Leu,c.2004C>A,synonymous_variant,Likely benign,380354,,11,1613898,0.0000068157962894805,0,0,nfe,0.000005,0.693,,0.00,0.00,0.139,,,0,74912,0,0,0,59992,0,0,0,29606,0,0,0,44886,0,0,0,63922,0,0,0,6084,0,0,11,1180028,0,0,0,910,0,0,0,91078,0,0,0,62480,0,0 -17-43093529-G-A,17,43093529,rs80357250,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu668Phe,p.Leu668Phe,c.2002C>T,missense_variant,Benign,37441,,86,1614010,0.00005328343690559538,0,0,amr,0.00007731999999999998,4.68,0.487,0.00,0.00,0.162,0.0800,0.679,2,75042,0,0,9,60004,0,0,0,29606,0,0,0,44876,0,0,0,63916,0,0,0,6062,0,0,74,1180010,0,0,0,912,0,0,0,91078,0,0,1,62504,0,0 -17-43093533-T-C,17,43093533,rs864622452,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu666Leu,p.Leu666Leu,c.1998A>G,synonymous_variant,Likely benign,220277,,13,1613952,0.000008054762471250694,0,0,nfe,0.00000429,0.821,,0.00,0.00,0.0320,,,0,74942,0,0,1,59994,0,0,0,29602,0,0,0,44890,0,0,1,63928,0,0,0,6084,0,0,10,1180026,0,0,0,912,0,0,1,91092,0,0,0,62482,0,0 -17-43093535-G-C,17,43093535,rs1555590709,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu666Val,p.Leu666Val,c.1996C>G,missense_variant,Conflicting interpretations of pathogenicity,482892,,1,1461702,6.841339753246558e-7,0,0,,,6.59,0.459,0.00,0.00,1.21,0.0500,0.627,0,33480,0,0,1,44718,0,0,0,26134,0,0,0,39686,0,0,0,53292,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43093535-G-T,17,43093535,rs1555590709,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu666Ile,p.Leu666Ile,c.1996C>A,missense_variant,Conflicting interpretations of pathogenicity,1198624,,1,1461702,6.841339753246558e-7,0,0,,,16.8,0.434,0.00,0.00,1.21,0.0200,0.942,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39686,0,0,0,53292,0,0,1,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43093540-C-G,17,43093540,rs2154405778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg664Thr,p.Arg664Thr,c.1991G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,13.8,0.557,0.00,0.00,0.328,0.0200,0.292,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093542-G-A,17,43093542,rs1597872888,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser663Ser,p.Ser663Ser,c.1989C>T,synonymous_variant,Likely benign,792410,,1,833108,0.0000012003245677631232,0,0,,,4.32,,0.00,0.00,0.689,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093547-G-A,17,43093547,rs397508927,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His662Tyr,p.His662Tyr,c.1984C>T,missense_variant,Conflicting interpretations of pathogenicity,54426,,4,833108,0.000004801298271052493,0,0,nfe,0.0000012299999999999999,16.3,0.564,0.00,0.0100,1.79,0.110,0.934,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093551-G-C,17,43093551,rs762772420,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val660Val,p.Val660Val,c.1980C>G,synonymous_variant,,,,2,628604,0.0000031816533143282577,0,0,amr,0.000007580000000000001,4.72,,0.00,0.00,0.378,,,0,17692,0,0,2,43736,0,0,0,20980,0,0,0,36060,0,0,0,53026,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69790,0,0,0,33092,0,0 -17-43093553-C-T,17,43093553,rs876660889,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val660Ile,p.Val660Ile,c.1978G>A,missense_variant,Conflicting interpretations of pathogenicity,234157,,12,1461732,0.000008209439213207346,0,0,nfe,0.00000531,5.84,0.375,0.00,0.00,-0.0960,0.220,0.168,0,33478,0,0,1,44718,0,0,0,26132,0,0,0,39690,0,0,0,53318,0,0,0,5768,0,0,11,1111986,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43093554-T-C,17,43093554,rs764009120,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Pro,p.Pro659Pro,c.1977A>G,synonymous_variant,Likely benign,1126493,,1,628620,0.0000015907861665234959,0,0,,,7.13,,0.00,0.00,-0.125,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36058,0,0,0,53040,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43093555-G-C,17,43093555,rs1258526903,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Arg,p.Pro659Arg,c.1976C>G,missense_variant,Conflicting interpretations of pathogenicity,1004775,,1,628594,0.0000015908519648612617,0,0,,,17.7,0.523,0.00,0.00,3.28,0.120,0.838,0,17690,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53014,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43093556-G-C,17,43093556,rs587776481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Ala,p.Pro659Ala,c.1975C>G,missense_variant,Conflicting interpretations of pathogenicity,156185,,2,1461690,0.000001368279183684639,0,0,nfe,2.999999999999999e-7,18.8,0.470,0.00,0.00,2.73,0.0200,0.838,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39690,0,0,0,53282,0,0,0,5768,0,0,2,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093556-G-A,17,43093556,rs587776481,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Ser,p.Pro659Ser,c.1975C>T,missense_variant,Conflicting interpretations of pathogenicity,2177977,,1,1461690,6.841395918423195e-7,0,0,,,22.7,0.477,0.00,0.00,2.73,0.0500,0.842,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39690,0,0,0,53282,0,0,1,5768,0,0,0,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093557-C-G,17,43093557,rs55678461,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met658Ile,p.Met658Ile,c.1974G>C,missense_variant,Conflicting interpretations of pathogenicity,54425,,72,1613890,0.00004461270594650193,1,0,nfe,0.00000292,0.0780,0.429,0.00,0.00,-0.547,0.390,0.0170,0,74922,0,0,0,59980,0,0,58,29604,1,0,0,44890,0,0,0,63912,0,0,0,6084,0,0,8,1180016,0,0,0,912,0,0,0,91082,0,0,6,62488,0,0 -17-43093558-A-G,17,43093558,rs2053849833,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met658Thr,p.Met658Thr,c.1973T>C,missense_variant,,,,3,1613838,0.0000018589226427931429,0,0,,,4.14,0.411,0.00,0.00,0.00200,0.490,0.0290,1,74890,0,0,0,59982,0,0,0,29604,0,0,0,44886,0,0,0,63900,0,0,0,6084,0,0,2,1180008,0,0,0,910,0,0,0,91088,0,0,0,62486,0,0 -17-43093560-T-C,17,43093560,rs28897679,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln657Gln,p.Gln657Gln,c.1971A>G,synonymous_variant,Benign,54424,,1927,1614028,0.0011939074167238734,19,0,afr,0.02226539,1.62,,0.00,0.0100,-0.453,,,1739,75048,19,0,58,60004,0,0,0,29602,0,0,0,44878,0,0,0,63940,0,0,2,6062,0,0,22,1179996,0,0,0,912,0,0,10,91082,0,0,96,62504,0,0 -17-43093561-T-A,17,43093561,rs2053850502,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln657Leu,p.Gln657Leu,c.1970A>T,missense_variant,,,,1,628648,0.0000015907153128618877,0,0,,,17.7,0.547,0.00,0.00,0.251,0.0100,0.733,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36060,0,0,0,53064,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093563-G-A,17,43093563,rs1131692075,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn656Asn,p.Asn656Asn,c.1968C>T,synonymous_variant,Likely benign,427260,,1,833104,0.0000012003303309070656,0,0,,,0.652,,0.00,0.00,0.235,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093563-G-C,17,43093563,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn656Lys,p.Asn656Lys,c.1968C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,4.68,0.361,0.00,0.00,0.235,0.190,0.145,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093566-G-A,17,43093566,rs886039987,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Tyr,p.Tyr655Tyr,c.1965C>T,synonymous_variant,Likely benign,1085025,,2,833106,0.0000024006548986563534,0,0,,,0.0760,,0.00,0.00,-0.320,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43093567-T-A,17,43093567,rs80357193,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Phe,p.Tyr655Phe,c.1964A>T,missense_variant,Likely benign,54421,,1,628638,0.0000015907406170164705,0,0,,,1.98,0.329,0.00,0.00,1.01,0.0600,0.0210,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53054,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093568-A-T,17,43093568,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Asn,p.Tyr655Asn,c.1963T>A,missense_variant,,,,1,628608,0.000001590816534310731,0,0,,,7.14,0.443,0.0100,0.00,0.0920,0.110,0.145,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093568-A-C,17,43093568,rs80357166,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Asp,p.Tyr655Asp,c.1963T>G,missense_variant,Likely benign,54418,,1,628608,0.000001590816534310731,0,0,,,12.4,0.440,0.0100,0.0100,0.0920,0.0200,0.0100,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093569-C-CT,17,43093569,rs80357522,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655ValfsTer18,p.Tyr655ValfsTer18,c.1961dup,frameshift_variant,Pathogenic,54417,lof_flag,10,1461676,0.000006841461445628169,0,0,sas,0.00002995,13.7,,0.00,0.00,-0.0290,,,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39686,0,0,0,53282,0,0,0,5768,0,0,4,1111970,0,0,,,,,6,86248,0,0,0,60394,0,0 -17-43093569-CT-C,17,43093569,rs80357522,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys654SerfsTer47,p.Lys654SerfsTer47,c.1961del,frameshift_variant,Pathogenic,37438,lof_flag,10,1613680,0.000006197015517326855,0,0,nfe,0.0000035900000000000004,8.63,,0.00,0.00,-0.0290,,,0,74876,0,0,0,59938,0,0,0,29598,0,0,0,44878,0,0,0,63876,0,0,0,6084,0,0,9,1179968,0,0,0,908,0,0,0,91074,0,0,1,62480,0,0 -17-43093569-CTTTT-C,17,43093569,rs80357522,CTTTT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys653SerfsTer47,p.Lys653SerfsTer47,c.1958_1961del,frameshift_variant,Pathogenic,54413,lof_flag,1,152002,0.0000065788608044630995,0,0,,,16.3,,0.00,0.00,-0.0290,,,1,41398,0,0,0,15220,0,0,0,3466,0,0,0,5192,0,0,0,10592,0,0,0,316,0,0,0,67998,0,0,0,908,0,0,0,4826,0,0,0,2086,0,0 -17-43093571-T-A,17,43093571,rs80357355,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys654Ter,p.Lys654Ter,c.1960A>T,stop_gained,Pathogenic,37436,lof_flag,1,152188,0.000006570820301206403,0,0,,,29.7,,0.00,0.00,-0.279,,,0,41456,0,0,0,15270,0,0,0,3470,0,0,0,5194,0,0,0,10620,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43093571-T-G,17,43093571,rs80357355,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys654Gln,p.Lys654Gln,c.1960A>C,missense_variant,Conflicting interpretations of pathogenicity,572395,,4,1461758,0.0000027364310645127304,0,0,amr,0.000007410000000000001,8.77,0.509,0.00,0.00,-0.279,0.0400,0.0100,0,33478,0,0,2,44722,0,0,0,26132,0,0,0,39690,0,0,0,53346,0,0,0,5768,0,0,2,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093572-T-C,17,43093572,rs767530204,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys653Lys,p.Lys653Lys,c.1959A>G,synonymous_variant,Likely benign,186453,,4,780852,0.000005122609662266345,0,0,nfe,0.0000032400000000000003,0.386,,0.00,0.0100,-0.510,,,0,59152,0,0,0,59002,0,0,0,24450,0,0,0,41260,0,0,0,63686,0,0,0,4464,0,0,4,418114,0,0,0,912,0,0,0,74622,0,0,0,35190,0,0 -17-43093574-TTTTC-T,17,43093574,rs80357526,TTTTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys653SerfsTer47,p.Lys653SerfsTer47,c.1953_1956del,frameshift_variant,Pathogenic,37435,lof_flag,5,1613952,0.0000030979855658656514,0,0,nfe,0.0000012399999999999998,20.4,,0.00,0.00,-0.194,,,0,74918,0,0,0,59996,0,0,0,29604,0,0,0,44890,0,0,0,63976,0,0,0,6082,0,0,5,1180000,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 -17-43093577-T-C,17,43093577,rs1567797589,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys652Glu,p.Lys652Glu,c.1954A>G,missense_variant,Conflicting interpretations of pathogenicity,628623,,1,1461744,6.84114318239035e-7,0,0,,,1.07,0.393,0.00,0.00,-0.861,0.270,0.449,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53338,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093577-T-TC,17,43093577,rs80357753,T,TC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys652GlufsTer21,p.Lys652GlufsTer21,c.1953dup,frameshift_variant,Pathogenic,54412,lof_flag,2,1461744,0.00000136822863647807,0,0,nfe,2.999999999999999e-7,20.6,,0.00,0.00,-0.861,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53338,0,0,0,5768,0,0,2,1111966,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093581-T-A,17,43093581,rs1060504579,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile650Ile,p.Ile650Ile,c.1950A>T,synonymous_variant,Likely benign,415585,,1,628624,0.0000015907760441853954,0,0,,,0.620,,0.00,0.00,-0.766,,,0,17690,0,0,1,43736,0,0,0,20978,0,0,0,36056,0,0,0,53068,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093582-A-C,17,43093582,rs1555590816,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile650Arg,p.Ile650Arg,c.1949T>G,missense_variant,Conflicting interpretations of pathogenicity,479216,,1,628612,0.0000015908064115861614,0,0,,,7.30,0.520,0.00,0.00,-0.340,0.0300,0.0260,0,17686,0,0,0,43734,0,0,0,20980,0,0,0,36056,0,0,0,53062,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43093583-T-C,17,43093583,rs749896277,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile650Val,p.Ile650Val,c.1948A>G,missense_variant,Conflicting interpretations of pathogenicity,1783156,,1,152192,0.000006570647603027754,0,0,,,0.146,0.346,0.00,0.0100,0.219,,,0,41452,0,0,0,15270,0,0,0,3470,0,0,1,5200,0,0,0,10616,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43093584-C-T,17,43093584,rs755706172,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu649Glu,p.Glu649Glu,c.1947G>A,synonymous_variant,Likely benign,427348,,2,628620,0.0000031815723330469918,0,0,,,2.94,,0.00,0.00,1.20,,,1,17688,0,0,1,43732,0,0,0,20978,0,0,0,36056,0,0,0,53070,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093586-C-G,17,43093586,rs80356907,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu649Gln,p.Glu649Gln,c.1945G>C,missense_variant,Conflicting interpretations of pathogenicity,54407,,4,628630,0.000006363043443679112,0,0,nfe,0.0000036699999999999996,24.4,0.710,0.00,0.00,7.14,0.00,0.999,0,17688,0,0,0,43736,0,0,0,20980,0,0,0,36058,0,0,0,53078,0,0,0,4148,0,0,4,350060,0,0,,,,,0,69786,0,0,0,33096,0,0 -17-43093587-T-C,17,43093587,rs876660781,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu648Glu,p.Glu648Glu,c.1944A>G,synonymous_variant,Likely benign,233993,,12,1613938,0.000007435229853934909,0,0,nfe,0.00000542,8.41,,0.00,0.00,0.172,,,0,74916,0,0,0,59976,0,0,0,29602,0,0,0,44890,0,0,0,63986,0,0,0,6084,0,0,12,1180002,0,0,0,912,0,0,0,91086,0,0,0,62484,0,0 -17-43093594-C-T,17,43093594,rs2053857094,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser646Asn,p.Ser646Asn,c.1937G>A,missense_variant,Conflicting interpretations of pathogenicity,925846,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,24.1,0.772,0.00,0.00,8.90,0.0100,0.950,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093595-T-C,17,43093595,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser646Gly,p.Ser646Gly,c.1936A>G,missense_variant,,,,2,1461778,0.0000013681968123750666,0,0,nfe,2.999999999999999e-7,24.9,0.808,0.00,0.00,2.99,0.0100,0.799,0,33476,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53378,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43093597-G-T,17,43093597,rs80357129,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser645Tyr,p.Ser645Tyr,c.1934C>A,missense_variant,Conflicting interpretations of pathogenicity,54404,,3,1461748,0.0000020523373385836683,0,0,nfe,7.200000000000001e-7,24.0,0.654,0.00,0.00,3.43,0.0100,0.971,0,33474,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53358,0,0,0,5768,0,0,3,1111974,0,0,,,,,0,86248,0,0,0,60392,0,0 -17-43093597-G-C,17,43093597,rs80357129,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser645Cys,p.Ser645Cys,c.1934C>G,missense_variant,Conflicting interpretations of pathogenicity,531244,,1,1461748,6.841124461945561e-7,0,0,,,23.9,0.638,0.00,0.00,3.43,0.0200,0.971,1,33474,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53358,0,0,0,5768,0,0,0,1111974,0,0,,,,,0,86248,0,0,0,60392,0,0 -17-43093601-A-T,17,43093601,rs753521391,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys644Ser,p.Cys644Ser,c.1930T>A,missense_variant,Conflicting interpretations of pathogenicity,409347,,8,1461778,0.000005472787249500266,1,0,eas,0.00009930999999999997,18.4,0.549,0.00,0.00,1.80,0.240,0.178,0,33472,0,0,0,44716,0,0,0,26132,0,0,8,39688,1,0,0,53384,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86244,0,0,0,60390,0,0 -17-43093602-A-G,17,43093602,rs1060502361,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser643Ser,p.Ser643Ser,c.1929T>C,synonymous_variant,Likely benign,1782823,,1,628672,0.0000015906545861753029,0,0,,,6.69,,0.00,0.00,0.0180,,,0,17688,0,0,0,43732,0,0,0,20980,0,0,0,36058,0,0,0,53110,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43093603-C-A,17,43093603,rs876660335,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser643Ile,p.Ser643Ile,c.1928G>T,missense_variant,Conflicting interpretations of pathogenicity,233327,,8,1461782,0.000005472772273841106,0,0,nfe,0.0000026200000000000003,22.9,0.759,0.0100,0.120,0.706,0.00,0.985,0,33476,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53386,0,0,0,5768,0,0,7,1111980,0,0,,,,,0,86244,0,0,1,60392,0,0 -17-43093607-C-G,17,43093607,rs80357344,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp642His,p.Asp642His,c.1924G>C,missense_variant,Benign,54401,,15,1613906,0.000009294221596548993,0,0,nfe,0.00000542,23.8,0.662,0.00,0.0100,3.52,0.0100,0.945,0,74882,0,0,0,59988,0,0,0,29602,0,0,0,44886,0,0,0,63990,0,0,0,6084,0,0,12,1180002,0,0,0,912,0,0,0,91076,0,0,3,62484,0,0 -17-43093609-A-G,17,43093609,rs730881474,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile641Thr,p.Ile641Thr,c.1922T>C,missense_variant,Conflicting interpretations of pathogenicity,182138,,14,1613838,0.000008674972333034667,0,0,nfe,0.00000615,23.0,0.803,0.00,0.00,1.01,0.0600,0.927,0,74854,0,0,0,59974,0,0,0,29602,0,0,0,44880,0,0,0,63988,0,0,0,6084,0,0,13,1179990,0,0,0,912,0,0,0,91072,0,0,1,62482,0,0 -17-43093611-T-A,17,43093611,rs587782843,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln640His,p.Gln640His,c.1920A>T,missense_variant,Conflicting interpretations of pathogenicity,142950,,4,780864,0.000005122530940086878,0,0,afr,0.00001347,19.4,0.633,0.00,0.0100,-0.664,0.0100,0.495,3,59128,0,0,0,59000,0,0,0,24448,0,0,0,41256,0,0,0,63736,0,0,0,4464,0,0,1,418110,0,0,0,912,0,0,0,74624,0,0,0,35186,0,0 -17-43093614-C-T,17,43093614,rs786202103,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Leu,p.Leu639Leu,c.1917G>A,synonymous_variant,Likely benign,185345,,1,833108,0.0000012003245677631232,0,0,,,0.901,,0.00,0.00,-0.210,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093616-A-G,17,43093616,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Leu,p.Leu639Leu,c.1915T>C,synonymous_variant,,,,1,1461810,6.840834308152222e-7,0,0,,,0.748,,0.00,0.00,1.67,,,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093616-A-C,17,43093616,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Val,p.Leu639Val,c.1915T>G,missense_variant,,,,1,1461810,6.840834308152222e-7,0,0,,,5.53,0.511,0.00,0.00,1.67,0.0200,0.242,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43093620-A-G,17,43093620,rs62625305,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr637Thr,p.Thr637Thr,c.1911T>C,synonymous_variant,Likely benign,54396,,187,1613924,0.00011586667030169946,0,0,nfe,0.00013333,0.497,,0.00,0.00,-2.84,,,1,74900,0,0,2,59988,0,0,0,29602,0,0,0,44884,0,0,0,64004,0,0,2,6084,0,0,179,1179992,0,0,0,912,0,0,0,91074,0,0,3,62484,0,0 -17-43093624-C-T,17,43093624,rs398122649,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys636Tyr,p.Cys636Tyr,c.1907G>A,missense_variant,Conflicting interpretations of pathogenicity,91570,,3,1613862,0.0000018588949984571172,0,0,,,1.74,0.521,0.00,0.00,-1.36,0.200,0.00100,1,74866,0,0,0,59968,0,0,0,29596,0,0,0,44886,0,0,0,63988,0,0,0,6084,0,0,2,1180000,0,0,0,912,0,0,0,91082,0,0,0,62480,0,0 -17-43093624-C-G,17,43093624,rs398122649,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys636Ser,p.Cys636Ser,c.1907G>C,missense_variant,Conflicting interpretations of pathogenicity,579537,,1,1461794,6.840909184194216e-7,0,0,,,2.27,0.524,0.00,0.00,-1.36,0.0700,0.0620,0,33474,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53392,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60388,0,0 -17-43093625-A-C,17,43093625,rs1334848140,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys636Gly,p.Cys636Gly,c.1906T>G,missense_variant,Conflicting interpretations of pathogenicity,820284,,1,152104,0.000006574449061168674,0,0,,,8.58,0.483,0.00,0.00,0.624,,,1,41392,0,0,0,15254,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43093626-A-G,17,43093626,rs369373293,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn635Asn,p.Asn635Asn,c.1905T>C,synonymous_variant,Likely benign,136542,,35,1613928,0.000021686221442344393,0,0,afr,0.0002427,2.27,,0.00,0.00,0.0230,,,26,74908,0,0,3,59960,0,0,0,29598,0,0,0,44886,0,0,0,64010,0,0,0,6084,0,0,3,1180008,0,0,0,912,0,0,2,91080,0,0,1,62482,0,0 -17-43093631-G-A,17,43093631,rs80357056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro634Ser,p.Pro634Ser,c.1900C>T,missense_variant,Conflicting interpretations of pathogenicity,54391,,2,833110,0.0000024006433724238097,0,0,,,19.4,0.471,0.00,0.00,1.64,0.160,0.829,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093633-G-A,17,43093633,rs398122647,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro633Leu,p.Pro633Leu,c.1898C>T,missense_variant,Conflicting interpretations of pathogenicity,91568,,5,780718,0.000006404361113744015,0,0,amr,0.000032739999999999995,22.6,0.398,0.00,0.00,4.14,0.0300,0.216,0,59078,0,0,5,58990,0,0,0,24450,0,0,0,41250,0,0,0,63704,0,0,0,4464,0,0,0,418066,0,0,0,912,0,0,0,74624,0,0,0,35180,0,0 -17-43093634-G-A,17,43093634,rs80356902,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro633Ser,p.Pro633Ser,c.1897C>T,missense_variant,Conflicting interpretations of pathogenicity,54387,,29,1613842,0.000017969541008351498,0,0,nfe,0.00001567,21.5,0.451,0.00,0.00,2.96,0.200,0.477,0,74868,0,0,0,59976,0,0,0,29594,0,0,0,44884,0,0,0,63978,0,0,0,6084,0,0,27,1179998,0,0,0,912,0,0,0,91072,0,0,2,62476,0,0 -17-43093636-C-T,17,43093636,rs80356983,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser632Asn,p.Ser632Asn,c.1895G>A,missense_variant,Conflicting interpretations of pathogenicity,54385,,4,1461794,0.0000027363636736776865,0,0,,,18.1,0.428,0.00,0.00,2.52,0.0300,0.609,0,33474,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53392,0,0,2,5768,0,0,1,1111982,0,0,,,,,0,86250,0,0,1,60390,0,0 -17-43093638-T-G,17,43093638,rs80356834,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu631Leu,p.Leu631Leu,c.1893A>C,synonymous_variant,Likely benign,184306,,24,1614014,0.00001486975949403165,0,0,nfe,0.00001107,5.73,,0.00,0.00,0.153,,,3,74928,0,0,0,59996,0,0,0,29594,0,0,0,44892,0,0,0,64034,0,0,0,6084,0,0,20,1180018,0,0,0,912,0,0,0,91080,0,0,1,62476,0,0 -17-43093638-T-TA,17,43093638,rs80357932,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser632LysfsTer4,p.Ser632LysfsTer4,c.1892dup,frameshift_variant,Pathogenic,54383,,2,1461804,0.0000013681724772951777,0,0,nfe,2.999999999999999e-7,23.7,,0.00,0.00,0.153,,,0,33474,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,2,1111982,0,0,,,,,0,86248,0,0,0,60390,0,0 -17-43093643-T-C,17,43093643,rs1597873547,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn630Asp,p.Asn630Asp,c.1888A>G,missense_variant,,,,1,628704,0.0000015905736244719296,0,0,,,22.8,0.351,0.00,0.00,3.19,0.0100,0.465,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53122,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43093647-A-C,17,43093647,rs80357495,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser628Arg,p.Ser628Arg,c.1884T>G,missense_variant,Conflicting interpretations of pathogenicity,54380,,1,833108,0.0000012003245677631232,0,0,,,22.6,0.592,0.00,0.00,1.32,0.00,0.726,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43093647-A-G,17,43093647,rs80357495,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser628Ser,p.Ser628Ser,c.1884T>C,synonymous_variant,Likely benign,758459,,1,833108,0.0000012003245677631232,0,0,,,8.50,,0.00,0.00,1.32,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43093650-G-C,17,43093650,rs80356838,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val627Val,p.Val627Val,c.1881C>G,synonymous_variant,Conflicting interpretations of pathogenicity,54378,,26,1613912,0.000016109924209002722,0,0,nfe,0.00001454,6.28,,0.0100,0.0200,2.90,,,0,74906,0,0,0,59970,0,0,0,29602,0,0,0,44888,0,0,0,63996,0,0,0,6084,0,0,25,1179996,0,0,0,912,0,0,0,91074,0,0,1,62484,0,0 -17-43093650-G-A,17,43093650,rs80356838,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627Val,p.Val627Val,c.1881C>T,synonymous_variant,Likely benign,185004,,25,1461796,0.00001710224956149832,0,0,nfe,0.000014599999999999999,6.74,,0.00,0.00,2.90,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,24,1111980,0,0,,,,,0,86244,0,0,1,60394,0,0 -17-43093651-A-C,17,43093651,rs770002293,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627Gly,p.Val627Gly,c.1880T>G,missense_variant,Conflicting interpretations of pathogenicity,193697,,1,628708,0.0000015905635048384942,0,0,,,21.5,0.555,0.00,0.00,1.04,0.0500,0.414,0,17690,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53120,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093652-C-T,17,43093652,rs80357425,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val627Ile,p.Val627Ile,c.1879G>A,missense_variant,Conflicting interpretations of pathogenicity,54377,,14,1613964,0.000008674295089605468,0,0,eas,0.00007256999999999998,16.9,0.500,0.00,0.00,4.23,0.0800,0.574,0,74912,0,0,0,59982,0,0,0,29598,0,0,7,44890,0,0,0,64000,0,0,0,6084,0,0,7,1180010,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43093653-T-C,17,43093653,rs8176154,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val626Val,p.Val626Val,c.1878A>G,synonymous_variant,Conflicting interpretations of pathogenicity,231250,,42,1614016,0.000026022046869423848,0,0,sas,0.00009193999999999999,7.61,,0.0100,0.0100,0.0810,,,1,74926,0,0,0,59992,0,0,0,29602,0,0,0,44892,0,0,0,64028,0,0,0,6084,0,0,25,1180010,0,0,0,912,0,0,14,91086,0,0,2,62484,0,0 -17-43093653-T-TACTA,17,43093653,rs80357516,T,TACTA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627SerfsTer4,p.Val627SerfsTer4,c.1874_1877dup,frameshift_variant,Pathogenic,54376,,1,1461816,6.840806230059049e-7,0,0,,,23.4,,0.00,0.0100,0.0810,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43093656-T-C,17,43093656,rs786201429,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu625Leu,p.Leu625Leu,c.1875A>G,synonymous_variant,Likely benign,184378,,11,1461824,0.000007524845672256031,0,0,nfe,0.00000455,6.59,,0.00,0.00,-1.32,,,0,33476,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,10,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093658-G-A,17,43093658,rs769044421,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu625Leu,p.Leu625Leu,c.1873C>T,synonymous_variant,Likely benign,219809,,7,1613950,0.000004337185166826729,0,0,eas,0.00004344999999999998,7.24,,0.00,0.00,0.937,,,0,74902,0,0,1,59986,0,0,0,29598,0,0,5,44884,0,0,0,64004,0,0,0,6084,0,0,1,1180012,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 -17-43093663-A-G,17,43093663,rs397508915,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu623Pro,p.Leu623Pro,c.1868T>C,missense_variant,Conflicting interpretations of pathogenicity,54373,,1,152214,0.0000065696979252893955,0,0,,,26.0,0.833,0.00,0.00,3.24,0.0300,0.918,0,41444,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10632,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43093664-G-C,17,43093664,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu623Val,p.Leu623Val,c.1867C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,24.0,0.744,0.00,0.00,6.23,0.0100,0.925,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093665-C-T,17,43093665,rs1800064,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala622Ala,p.Ala622Ala,c.1866G>A,synonymous_variant,Likely benign,182091,,20,1613932,0.0000123920958255986,0,0,eas,0.000007390000000000001,4.42,,0.00,0.00,-3.12,,,2,74904,0,0,1,59986,0,0,0,29596,0,0,2,44888,0,0,0,63988,0,0,0,6082,0,0,14,1180004,0,0,0,912,0,0,0,91086,0,0,1,62486,0,0 -17-43093666-G-A,17,43093666,rs56039126,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala622Val,p.Ala622Val,c.1865C>T,missense_variant,Benign,54371,,132,1613884,0.00008179026497567359,0,0,nfe,0.00008673,17.1,0.563,0.00,0.00,3.35,0.0400,0.150,1,74890,0,0,2,59986,0,0,0,29602,0,0,1,44886,0,0,0,63968,0,0,1,6084,0,0,120,1179992,0,0,0,912,0,0,0,91078,0,0,7,62486,0,0 -17-43093666-G-T,17,43093666,rs56039126,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala622Glu,p.Ala622Glu,c.1865C>A,missense_variant,,,,1,1461766,6.841040221211877e-7,0,0,,,12.7,0.524,0.00,0.00,3.35,0.110,0.136,0,33476,0,0,0,44724,0,0,0,26132,0,0,1,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111966,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43093667-C-T,17,43093667,rs1567797954,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala622Thr,p.Ala622Thr,c.1864G>A,missense_variant,Conflicting interpretations of pathogenicity,619786,,1,628694,0.0000015905989241188878,0,0,,,12.8,0.596,0.00,0.00,1.34,0.180,0.314,0,17690,0,0,0,43740,0,0,0,20978,0,0,1,36058,0,0,0,53112,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093671-A-T,17,43093671,rs1324048846,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile620Ile,p.Ile620Ile,c.1860T>A,synonymous_variant,Likely benign,1533259,,1,152184,0.000006570993008463439,0,0,,,7.20,,0.00,0.00,0.483,,,0,41442,0,0,0,15268,0,0,0,3470,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43093675-T-G,17,43093675,rs771890863,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His619Pro,p.His619Pro,c.1856A>C,missense_variant,,,,1,628694,0.0000015905989241188878,0,0,,,13.3,0.495,0.00,0.00,0.176,0.210,0.0130,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093677-C-T,17,43093677,rs1060504585,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg618Arg,p.Arg618Arg,c.1854G>A,synonymous_variant,Likely benign,415595,,8,1461792,0.000005472734835051772,0,0,nfe,0.0000013199999999999999,9.00,,0.00,0.00,0.257,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,1,53376,0,0,0,5768,0,0,5,1111980,0,0,,,,,1,86254,0,0,1,60392,0,0 -17-43093680-G-C,17,43093680,rs1555591097,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr617Thr,p.Thr617Thr,c.1851C>G,synonymous_variant,Likely benign,462569,,1,628692,0.0000015906039841448595,0,0,,,8.23,,0.00,0.00,1.97,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53100,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093682-T-C,17,43093682,rs45564238,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr617Ala,p.Thr617Ala,c.1849A>G,missense_variant,Conflicting interpretations of pathogenicity,41807,,7,1461806,0.000004788597118906339,0,0,nfe,0.0000013199999999999999,6.28,0.540,0.00,0.00,-0.205,0.500,0.443,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,5,1111982,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43093682-TAGA-T,17,43093682,rs80358329,TAGA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser616del,p.Ser616del,c.1846_1848del,inframe_deletion,Benign,37430,,342,1614142,0.00021187726978171684,1,0,afr,0.0035352900000000004,17.3,,0.00,0.00,-0.205,,,293,75060,1,0,4,60016,0,0,0,29602,0,0,0,44880,0,0,0,64012,0,0,2,6062,0,0,21,1180006,0,0,0,912,0,0,2,91084,0,0,20,62508,0,0 -17-43093683-A-G,17,43093683,rs2154417226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser616Ser,p.Ser616Ser,c.1848T>C,synonymous_variant,Likely benign,1544086,,1,628486,0.0000015911253393074787,0,0,,,5.34,,0.00,0.00,-0.728,,,0,17542,0,0,0,43736,0,0,0,20980,0,0,1,36056,0,0,0,53098,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69790,0,0,0,33068,0,0 -17-43093686-A-C,17,43093686,rs1349314670,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser615Ser,p.Ser615Ser,c.1845T>G,synonymous_variant,,,,1,151948,0.000006581198831179088,0,0,,,9.14,,0.00,0.00,-0.0610,,,0,41192,0,0,1,15270,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43093687-G-T,17,43093687,rs398122645,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615Tyr,p.Ser615Tyr,c.1844C>A,missense_variant,,,,3,1461778,0.0000020522952185625998,0,0,sas,0.00000924,23.9,0.672,0.00,0.00,4.13,0.00,0.957,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5766,0,0,0,1111982,0,0,,,,,3,86248,0,0,0,60394,0,0 -17-43093687-G-GAC,17,43093687,rs767595162,G,GAC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615CysfsTer12,p.Ser615CysfsTer12,c.1842_1843dup,frameshift_variant,Pathogenic,254400,,5,1461778,0.000003420492030937666,0,0,sas,0.000021940000000000003,26.3,,0.00,0.00,4.13,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5766,0,0,0,1111982,0,0,,,,,5,86248,0,0,0,60394,0,0 -17-43093688-A-T,17,43093688,rs1384752453,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615Thr,p.Ser615Thr,c.1843T>A,missense_variant,,,,1,628698,0.0000015905888041635253,0,0,,,22.7,0.533,0.00,0.00,0.963,0.120,0.474,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53106,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,1,33096,0,0 -17-43093689-C-A,17,43093689,rs760109939,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614Asn,p.Lys614Asn,c.1842G>T,missense_variant,Conflicting interpretations of pathogenicity,252401,,2,628690,0.0000031812180884060508,0,0,,,23.4,0.605,0.00,0.00,0.675,0.00,0.994,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53098,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43093689-C-T,17,43093689,rs760109939,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys614Lys,p.Lys614Lys,c.1842G>A,synonymous_variant,Likely benign,184574,,3,780894,0.000003841750608917471,0,0,,,7.95,,0.00,0.00,0.675,,,0,59142,0,0,1,59012,0,0,0,24452,0,0,0,41254,0,0,0,63724,0,0,0,4464,0,0,2,418116,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 -17-43093690-T-C,17,43093690,rs1597873869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614Arg,p.Lys614Arg,c.1841A>G,missense_variant,Conflicting interpretations of pathogenicity,820172,,1,1461780,6.840974702075551e-7,0,0,,,21.6,0.641,0.00,0.00,0.818,0.310,0.927,1,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53366,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093690-TTC-T,17,43093690,rs752474843,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614ValfsTer10,p.Lys614ValfsTer10,c.1839_1840del,frameshift_variant,Pathogenic,254399,,5,1461780,0.000003420487351037776,0,0,sas,0.000021940000000000003,26.9,,0.00,0.00,0.818,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53366,0,0,0,5768,0,0,0,1111978,0,0,,,,,5,86254,0,0,0,60394,0,0 -17-43093691-T-A,17,43093691,rs80357282,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys614Ter,p.Lys614Ter,c.1840A>T,stop_gained,Pathogenic,54369,,2,780892,0.000002561173632205222,0,0,,,36.0,,0.00,0.0100,4.69,,,0,59144,0,0,0,59008,0,0,0,24450,0,0,0,41264,0,0,0,63726,0,0,0,4464,0,0,1,418106,0,0,0,912,0,0,0,74628,0,0,1,35190,0,0 -17-43093692-C-T,17,43093692,rs759157605,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg613Arg,p.Arg613Arg,c.1839G>A,synonymous_variant,Likely benign,427297,,2,1461764,0.000001368209916238189,0,0,,,8.52,,0.00,0.00,1.12,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,1,39686,0,0,0,53360,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86244,0,0,0,60394,0,0 -17-43093693-C-T,17,43093693,rs786203937,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg613Lys,p.Arg613Lys,c.1838G>A,missense_variant,Conflicting interpretations of pathogenicity,187705,,2,628676,0.0000031812889310232935,0,0,amr,0.000007580000000000001,15.7,0.452,0.00,0.00,0.985,0.270,0.751,0,17694,0,0,2,43738,0,0,0,20980,0,0,0,36056,0,0,0,53086,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093694-T-C,17,43093694,rs863224753,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg613Gly,p.Arg613Gly,c.1837A>G,missense_variant,Conflicting interpretations of pathogenicity,216655,,3,781014,0.000003841160337714817,0,0,nfe,8e-7,25.2,0.738,0.00,0.00,1.77,0.0100,0.992,0,59280,0,0,0,59026,0,0,0,24450,0,0,0,41242,0,0,0,63712,0,0,0,4442,0,0,2,418116,0,0,0,912,0,0,0,74622,0,0,1,35212,0,0 -17-43093695-C-T,17,43093695,rs2154418419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg612Arg,p.Arg612Arg,c.1836G>A,synonymous_variant,Likely benign,1656292,,2,1461778,0.0000013681968123750666,0,0,nfe,2.999999999999999e-7,10.1,,0.00,0.00,1.95,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53364,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093697-T-C,17,43093697,rs80357245,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg612Gly,p.Arg612Gly,c.1834A>G,missense_variant,Benign,54367,,6,780916,0.000007683284757899697,0,0,sas,0.00000445,23.1,0.601,0.00,0.00,2.39,0.0500,0.323,0,59158,0,0,0,59016,0,0,0,24450,0,0,0,41262,0,0,0,63718,0,0,0,4464,0,0,4,418120,0,0,0,912,0,0,2,74626,0,0,0,35190,0,0 -17-43093701-C-T,17,43093701,rs587780796,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg610Arg,p.Arg610Arg,c.1830G>A,synonymous_variant,Likely benign,136080,,9,628672,0.000014315891275577726,0,0,nfe,0.00000931,8.68,,0.00,0.00,1.86,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53082,0,0,0,4148,0,0,7,350082,0,0,,,,,0,69794,0,0,2,33096,0,0 -17-43093704-ATTCT-A,17,43093704,rs80357585,ATTCT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys608IlefsTer3,p.Lys608IlefsTer3,c.1823_1826del,frameshift_variant,Pathogenic,54361,,5,1461770,0.0000034205107506652893,0,0,nfe,0.0000013199999999999999,24.3,,0.00,0.00,-1.63,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53364,0,0,0,5768,0,0,5,1111970,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093704-A-G,17,43093704,rs757657445,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn609Asn,p.Asn609Asn,c.1827T>C,synonymous_variant,Likely benign,427307,,6,1613896,0.0000037177116741103517,0,0,afr,0.000025500000000000003,1.82,,0.00,0.00,-1.63,,,5,74898,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,63962,0,0,0,6084,0,0,1,1179988,0,0,0,912,0,0,0,91086,0,0,0,62486,0,0 -17-43093704-ATTC-A,17,43093704,rs587781614,ATTC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys608del,p.Lys608del,c.1824_1826del,inframe_deletion,Uncertain significance,141263,,16,1613896,0.000009913897797627604,0,0,nfe,0.00000803,11.8,,0.00,0.00,-1.63,,,0,74898,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,63962,0,0,0,6084,0,0,16,1179988,0,0,0,912,0,0,0,91086,0,0,0,62486,0,0 -17-43093705-T-C,17,43093705,rs80357236,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn609Ser,p.Asn609Ser,c.1826A>G,missense_variant,Conflicting interpretations of pathogenicity,37429,,3,1461746,0.0000020523401466465445,0,0,nfe,7.200000000000001e-7,17.7,0.403,0.00,0.00,0.775,0.110,0.780,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,3,1111946,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093707-C-A,17,43093707,rs2053878737,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys608Asn,p.Lys608Asn,c.1824G>T,missense_variant,,,,1,152178,0.000006571252086372537,0,0,,,18.9,0.417,0.00,0.00,1.19,,,0,41430,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10616,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43093710-T-C,17,43093710,rs2154419638,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys607Lys,p.Lys607Lys,c.1821A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.22,,0.00,0.00,3.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093712-T-C,17,43093712,rs80357220,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys607Glu,p.Lys607Glu,c.1819A>G,missense_variant,Conflicting interpretations of pathogenicity,224430,,1,152344,0.000006564091792259623,0,0,,,23.2,0.527,0.00,0.00,2.35,0.00,0.926,0,41578,0,0,0,15298,0,0,0,3466,0,0,1,5192,0,0,0,10624,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2116,0,0 -17-43093718-C-G,17,43093718,rs587781613,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala605Pro,p.Ala605Pro,c.1813G>C,missense_variant,Conflicting interpretations of pathogenicity,619785,,1,628660,0.0000015906849489390132,0,0,,,9.58,0.562,0.00,0.00,0.605,0.0800,0.289,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53068,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093724-A-G,17,43093724,rs1555591208,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser603Pro,p.Ser603Pro,c.1807T>C,missense_variant,,,,1,628638,0.0000015907406170164705,0,0,,,22.8,0.542,0.00,0.00,2.23,0.0400,0.473,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53048,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093726-T-C,17,43093726,rs1567798189,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn602Ser,p.Asn602Ser,c.1805A>G,missense_variant,Conflicting interpretations of pathogenicity,628485,,1,628634,0.0000015907507389037182,0,0,,,0.230,0.182,0.00,0.00,-0.364,0.980,0.00600,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53044,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093728-G-A,17,43093728,rs1057523373,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His601His,p.His601His,c.1803C>T,synonymous_variant,Likely benign,389240,,1,152170,0.0000065715975553657095,0,0,,,1.55,,0.00,0.00,-0.618,,,0,41454,0,0,1,15262,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43093729-T-C,17,43093729,rs371631805,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His601Arg,p.His601Arg,c.1802A>G,missense_variant,Conflicting interpretations of pathogenicity,188204,,14,1613960,0.000008674316587771691,0,0,afr,0.00007226999999999998,7.52,0.500,0.00,0.00,-0.885,0.310,0.168,10,74942,0,0,1,59992,0,0,0,29604,0,0,0,44886,0,0,0,63946,0,0,1,6084,0,0,2,1180022,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 -17-43093734-A-G,17,43093734,rs756211343,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn599Asn,p.Asn599Asn,c.1797T>C,synonymous_variant,Likely benign,184539,,13,1613922,0.000008054912195260985,0,0,eas,0.00015392999999999996,6.83,,0.00,0.00,0.737,,,0,74926,0,0,0,59992,0,0,0,29602,0,0,12,44888,0,0,0,63936,0,0,0,6084,0,0,0,1180006,0,0,0,912,0,0,0,91088,0,0,1,62488,0,0 -17-43093735-T-C,17,43093735,rs1174268388,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn599Ser,p.Asn599Ser,c.1796A>G,missense_variant,Conflicting interpretations of pathogenicity,652519,,1,833110,0.0000012003216862119048,0,0,,,20.6,0.445,0.00,0.00,0.751,0.0600,0.829,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43093737-T-C,17,43093737,rs876659644,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu598Leu,p.Leu598Leu,c.1794A>G,synonymous_variant,Likely benign,232242,,8,1461740,0.000005472929522350076,0,0,nfe,0.0000031,7.89,,0.00,0.00,0.381,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53316,0,0,0,5768,0,0,8,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093738-A-C,17,43093738,rs80357118,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu598Ter,p.Leu598Ter,c.1793T>G,stop_gained,Pathogenic,54352,,4,628620,0.0000063631446660939835,0,0,sas,0.00001141,34.0,,0.00,0.00,2.95,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53034,0,0,0,4148,0,0,1,350080,0,0,,,,,3,69794,0,0,0,33096,0,0 -17-43093742-C-G,17,43093742,rs55650082,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu597Gln,p.Glu597Gln,c.1789G>C,missense_variant,,,,1,1461706,6.841321031725942e-7,0,0,,,23.3,0.628,0.00,0.00,6.96,0.00,0.997,0,33480,0,0,0,44724,0,0,0,26130,0,0,1,39686,0,0,0,53304,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86242,0,0,0,60392,0,0 -17-43093742-C-T,17,43093742,rs55650082,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu597Lys,p.Glu597Lys,c.1789G>A,missense_variant,Benign,41806,,269,1613814,0.00016668587581964217,0,0,nfe,0.00017818,22.8,0.636,0.00,0.00,6.96,0.0400,0.992,5,74900,0,0,0,59992,0,0,0,29602,0,0,2,44880,0,0,0,63894,0,0,0,6084,0,0,235,1180006,0,0,0,912,0,0,1,91064,0,0,26,62480,0,0 -17-43093743-G-A,17,43093743,rs779253414,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu596Leu,p.Leu596Leu,c.1788C>T,synonymous_variant,Likely benign,427314,,5,1461698,0.000003420679237434819,0,0,nfe,8.4e-7,2.67,,0.00,0.00,-0.370,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53284,0,0,0,5768,0,0,4,1111986,0,0,,,,,0,86246,0,0,1,60394,0,0 -17-43093745-G-C,17,43093745,rs80357371,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu596Val,p.Leu596Val,c.1786C>G,missense_variant,Conflicting interpretations of pathogenicity,54347,,4,1461702,0.0000027365359012986232,0,0,nfe,8.4e-7,15.2,0.600,0.00,0.00,0.711,0.130,0.348,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53282,0,0,0,5768,0,0,4,1111984,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43093745-G-A,17,43093745,rs80357371,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu596Phe,p.Leu596Phe,c.1786C>T,missense_variant,Conflicting interpretations of pathogenicity,182136,,4,1613926,0.0000024784283789963107,0,0,nfe,2.8000000000000007e-7,22.8,0.520,0.00,0.00,0.711,0.0200,0.665,1,75020,0,0,1,60002,0,0,0,29604,0,0,0,44864,0,0,0,63886,0,0,0,6062,0,0,2,1179994,0,0,0,912,0,0,0,91076,0,0,0,62506,0,0 -17-43093750-A-G,17,43093750,rs2053884703,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met594Thr,p.Met594Thr,c.1781T>C,missense_variant,Conflicting interpretations of pathogenicity,949994,,1,833110,0.0000012003216862119048,0,0,,,21.4,0.511,0.00,0.00,2.17,0.0200,0.206,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093752-A-G,17,43093752,rs1060504563,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593Asn,p.Asn593Asn,c.1779T>C,synonymous_variant,Likely benign,415563,,1,628602,0.0000015908317186391388,0,0,,,7.24,,0.00,0.00,0.485,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53014,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093754-T-C,17,43093754,rs772975110,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593Asp,p.Asn593Asp,c.1777A>G,missense_variant,,,,1,628600,0.000001590836780146357,0,0,,,15.2,0.347,0.00,0.00,1.09,0.450,0.109,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53026,0,0,0,4144,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43093754-T-G,17,43093754,rs772975110,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593His,p.Asn593His,c.1777A>C,missense_variant,Conflicting interpretations of pathogenicity,1779891,,1,628600,0.000001590836780146357,0,0,,,20.9,0.412,0.00,0.00,1.09,0.100,0.433,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53026,0,0,0,4144,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43093755-G-A,17,43093755,rs876658911,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser592Ser,p.Ser592Ser,c.1776C>T,synonymous_variant,Likely benign,231027,,1,628584,0.0000015908772733636235,0,0,,,6.04,,0.00,0.00,0.184,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53002,0,0,0,4146,0,0,0,350082,0,0,,,,,0,69792,0,0,1,33092,0,0 -17-43093756-C-T,17,43093756,rs786203044,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser592Asn,p.Ser592Asn,c.1775G>A,missense_variant,Conflicting interpretations of pathogenicity,186563,,1,628586,0.0000015908722115987311,0,0,,,9.18,0.411,0.00,0.00,0.484,0.180,0.0290,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,52998,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43093758-TA-T,17,43093758,rs80357901,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591LysfsTer8,p.Ile591LysfsTer8,c.1772del,frameshift_variant,Pathogenic,54346,,1,628598,0.0000015908418416857832,0,0,,,24.3,,0.00,0.0100,1.03,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53014,0,0,0,4146,0,0,1,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43093759-A-G,17,43093759,rs80356859,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591Thr,p.Ile591Thr,c.1772T>C,missense_variant,Conflicting interpretations of pathogenicity,54345,,6,1461684,0.000004104854400814403,0,0,nfe,8.4e-7,18.7,0.661,0.00,0.00,1.71,0.0300,0.780,0,33480,0,0,0,44724,0,0,0,26130,0,0,0,39686,0,0,0,53274,0,0,1,5768,0,0,4,1111982,0,0,,,,,0,86246,0,0,1,60394,0,0 -17-43093760-T-C,17,43093760,rs1064795358,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591Val,p.Ile591Val,c.1771A>G,missense_variant,Conflicting interpretations of pathogenicity,421781,,1,628574,0.0000015909025826712528,0,0,,,13.1,0.598,0.00,0.0100,-0.111,0.190,0.463,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,52994,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43093762-C-T,17,43093762,rs1060502349,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser590Asn,p.Ser590Asn,c.1769G>A,missense_variant,Conflicting interpretations of pathogenicity,409345,,1,833110,0.0000012003216862119048,0,0,,,17.9,0.476,0.00,0.00,2.53,0.120,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093763-T-C,17,43093763,rs80357454,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser590Gly,p.Ser590Gly,c.1768A>G,missense_variant,Conflicting interpretations of pathogenicity,54344,,1,833110,0.0000012003216862119048,0,0,,,22.9,0.561,0.00,0.00,4.75,0.0100,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093765-C-A,17,43093765,rs1567798335,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser589Ile,p.Ser589Ile,c.1766G>T,missense_variant,Conflicting interpretations of pathogenicity,801061,,2,780704,0.0000025617903840636143,0,0,,,20.9,0.541,0.00,0.00,0.439,0.0400,0.125,0,59122,0,0,2,59004,0,0,0,24448,0,0,0,41258,0,0,0,63608,0,0,0,4464,0,0,0,418100,0,0,0,912,0,0,0,74608,0,0,0,35180,0,0 -17-43093765-C-T,17,43093765,rs1567798335,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser589Asn,p.Ser589Asn,c.1766G>A,missense_variant,Conflicting interpretations of pathogenicity,619784,,1,628562,0.0000015909329549034144,0,0,,,14.7,0.339,0.00,0.00,0.439,0.270,0.0610,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,52996,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69780,0,0,0,33092,0,0 -17-43093766-T-C,17,43093766,rs2154424891,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser589Gly,p.Ser589Gly,c.1765A>G,missense_variant,Conflicting interpretations of pathogenicity,1947263,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,16.0,0.454,0.00,0.00,2.88,0.280,0.125,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093767-G-T,17,43093767,rs1597874296,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser588Arg,p.Ser588Arg,c.1764C>A,missense_variant,Conflicting interpretations of pathogenicity,1361721,,1,152266,0.000006567454323355181,0,0,,,20.9,0.600,0.00,0.00,2.25,0.0100,0.566,0,41560,0,0,0,15290,0,0,0,3472,0,0,1,5192,0,0,0,10596,0,0,0,294,0,0,0,68012,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 -17-43093769-T-C,17,43093769,rs1169162396,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser588Gly,p.Ser588Gly,c.1762A>G,missense_variant,Conflicting interpretations of pathogenicity,531235,,7,780744,0.00000896580697386083,0,0,amr,0.000055149999999999985,23.4,0.474,0.00,0.00,2.70,0.00,0.937,0,59146,0,0,7,59014,0,0,0,24448,0,0,0,41262,0,0,0,63626,0,0,0,4460,0,0,0,418094,0,0,0,912,0,0,0,74598,0,0,0,35184,0,0 -17-43093772-T-C,17,43093772,rs1597874361,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile587Val,p.Ile587Val,c.1759A>G,missense_variant,Conflicting interpretations of pathogenicity,662219,,7,1461600,0.000004789272030651341,0,0,nfe,0.00000194,14.1,0.513,0.00,0.0100,0.631,0.390,0.593,0,33466,0,0,0,44712,0,0,0,26126,0,0,0,39686,0,0,0,53278,0,0,0,5766,0,0,6,1111958,0,0,,,,,1,86222,0,0,0,60386,0,0 -17-43093773-AG-A,17,43093773,rs80357723,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro586LeufsTer2,p.Pro586LeufsTer2,c.1757del,frameshift_variant,Pathogenic,54343,,1,833110,0.0000012003216862119048,0,0,,,25.6,,0.00,0.0200,-0.181,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093782-T-C,17,43093782,rs876659580,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys583Lys,p.Lys583Lys,c.1749A>G,synonymous_variant,Likely benign,232140,,3,628366,0.0000047742875967191095,0,0,amr,0.000007590000000000001,6.10,,0.00,0.00,1.48,,,0,17662,0,0,2,43696,0,0,0,20968,0,0,0,36056,0,0,0,52986,0,0,0,4146,0,0,1,350028,0,0,,,,,0,69744,0,0,0,33080,0,0 -17-43093784-T-C,17,43093784,rs80356928,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys583Glu,p.Lys583Glu,c.1747A>G,missense_variant,Conflicting interpretations of pathogenicity,91562,,17,1613654,0.000010535096123456454,0,0,afr,0.00011211,8.70,0.537,0.00,0.00,0.775,0.150,0.0620,14,74906,0,0,1,59952,0,0,0,29590,0,0,0,44890,0,0,0,63880,0,0,0,6082,0,0,0,1179962,0,0,0,912,0,0,0,91014,0,0,2,62466,0,0 -17-43093785-C-T,17,43093785,rs776115545,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr582Thr,p.Thr582Thr,c.1746G>A,synonymous_variant,Likely benign,427309,,1,628278,0.0000015916521030499239,0,0,,,0.216,,0.00,0.00,-1.03,,,0,17662,0,0,1,43674,0,0,0,20968,0,0,0,36056,0,0,0,52972,0,0,0,4144,0,0,0,350006,0,0,,,,,0,69716,0,0,0,33080,0,0 -17-43093786-G-A,17,43093786,rs786202386,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr582Met,p.Thr582Met,c.1745C>T,missense_variant,Conflicting interpretations of pathogenicity,185698,,15,1613436,0.000009296929038400035,0,0,nfe,0.00000615,13.1,0.387,0.00,0.00,1.38,0.0100,0.901,0,74856,0,0,0,59914,0,0,0,29590,0,0,0,44880,0,0,0,63852,0,0,0,6076,0,0,13,1179894,0,0,0,912,0,0,1,91008,0,0,1,62454,0,0 -17-43093794-A-C,17,43093794,rs1567798463,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala579Ala,p.Ala579Ala,c.1737T>G,synonymous_variant,Likely benign,628257,,5,1461354,0.0000034214844589332905,0,0,nfe,0.0000013199999999999999,4.47,,0.00,0.00,-0.136,,,0,33420,0,0,0,44658,0,0,0,26120,0,0,0,39686,0,0,0,53238,0,0,0,5764,0,0,5,1111908,0,0,,,,,0,86190,0,0,0,60370,0,0 -17-43093796-C-G,17,43093796,rs759108406,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala579Pro,p.Ala579Pro,c.1735G>C,missense_variant,Conflicting interpretations of pathogenicity,1779064,,1,152146,0.0000065726341803267915,0,0,,,13.7,0.508,0.00,0.00,0.930,,,0,41438,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,1,68024,0,0,0,910,0,0,0,4830,0,0,0,2086,0,0 -17-43093798-G-T,17,43093798,rs80356939,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser578Tyr,p.Ser578Tyr,c.1733C>A,missense_variant,Conflicting interpretations of pathogenicity,54338,,5,1461314,0.0000034215781139440255,0,0,nfe,0.0000013199999999999999,23.3,0.578,0.00,0.00,4.93,0.00,0.922,0,33424,0,0,0,44650,0,0,0,26124,0,0,0,39682,0,0,0,53218,0,0,0,5760,0,0,5,1111904,0,0,,,,,0,86182,0,0,0,60370,0,0 -17-43093800-T-G,17,43093800,rs28897678,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu577Asp,p.Glu577Asp,c.1731A>C,missense_variant,,,,1,1461360,6.842940822247769e-7,0,0,,,22.5,0.659,0.00,0.00,1.09,0.0100,0.566,0,33424,0,0,0,44662,0,0,0,26124,0,0,1,39686,0,0,0,53230,0,0,0,5758,0,0,0,1111916,0,0,,,,,0,86190,0,0,0,60370,0,0 -17-43093800-T-C,17,43093800,rs28897678,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu577Glu,p.Glu577Glu,c.1731A>G,synonymous_variant,Likely benign,184373,,64,1613536,0.00003966443884735141,0,0,nfe,0.00004183,5.64,,0.00,0.00,1.09,,,1,74866,0,0,0,59930,0,0,0,29594,0,0,0,44886,0,0,0,63852,0,0,0,6074,0,0,62,1179938,0,0,0,912,0,0,0,91026,0,0,1,62458,0,0 -17-43093802-C-G,17,43093802,rs397508903,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu577Gln,p.Glu577Gln,c.1729G>C,missense_variant,Conflicting interpretations of pathogenicity,860128,,1,628180,0.000001591900410710306,0,0,,,23.1,0.592,0.00,0.00,2.45,0.0100,0.770,0,17634,0,0,1,43662,0,0,0,20970,0,0,0,36054,0,0,0,52936,0,0,0,4140,0,0,0,350000,0,0,,,,,0,69714,0,0,0,33070,0,0 -17-43093807-T-C,17,43093807,rs111539978,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu575Gly,p.Glu575Gly,c.1724A>G,missense_variant,Conflicting interpretations of pathogenicity,186110,,50,1613682,0.000030985039183680554,0,0,afr,0.00023103999999999998,3.72,0.369,0.00,0.00,-0.994,0.170,0.0260,25,75006,0,0,3,59952,0,0,0,29594,0,0,0,44878,0,0,0,63868,0,0,1,6050,0,0,0,1179932,0,0,0,912,0,0,0,91014,0,0,21,62476,0,0 -17-43093808-C-T,17,43093808,rs397508902,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu575Lys,p.Glu575Lys,c.1723G>A,missense_variant,Conflicting interpretations of pathogenicity,54334,,29,1461170,0.00001984710882375083,0,0,sas,0.00004583999999999998,7.63,0.616,0.00,0.00,1.58,0.140,0.122,0,33410,0,0,3,44620,0,0,0,26122,0,0,0,39682,0,0,0,53214,0,0,0,5754,0,0,17,1111868,0,0,,,,,8,86134,0,0,1,60366,0,0 -17-43093809-G-A,17,43093809,rs530914551,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu574Leu,p.Leu574Leu,c.1722C>T,synonymous_variant,Likely benign,427326,,7,1613184,0.0000043392446242958025,0,0,sas,0.00000876,0.660,,0.00,0.00,1.17,,,0,74912,0,0,0,59878,0,0,0,29584,0,0,1,44868,0,0,0,63730,0,0,0,6046,0,0,2,1179838,0,0,0,912,0,0,3,90952,0,0,1,62464,0,0 -17-43093811-G-A,17,43093811,rs1323998441,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu574Phe,p.Leu574Phe,c.1720C>T,missense_variant,Conflicting interpretations of pathogenicity,1652406,,2,628100,0.0000031842063365706097,0,0,,,11.8,0.493,0.00,0.00,-1.79,0.0100,0.742,0,17624,0,0,0,43644,0,0,0,20970,0,0,0,36052,0,0,0,52938,0,0,0,4138,0,0,1,349980,0,0,,,,,1,69682,0,0,0,33072,0,0 -17-43093813-G-A,17,43093813,rs876660434,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser573Leu,p.Ser573Leu,c.1718C>T,missense_variant,Conflicting interpretations of pathogenicity,233482,,3,1461120,0.0000020532194480946122,0,0,nfe,2.999999999999999e-7,23.0,0.506,0.00,0.00,3.99,0.0600,0.443,0,33394,0,0,0,44606,0,0,0,26118,0,0,0,39684,0,0,0,53184,0,0,0,5754,0,0,2,1111868,0,0,,,,,0,86150,0,0,1,60362,0,0 -17-43093814-A-G,17,43093814,rs876660448,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser573Pro,p.Ser573Pro,c.1717T>C,missense_variant,Conflicting interpretations of pathogenicity,233500,,8,833102,0.000009602665699998319,0,0,nfe,0.00000452,23.4,0.575,0.00,0.00,1.29,0.0500,0.414,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,8,761900,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43093818-T-C,17,43093818,rs552505690,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile571Met,p.Ile571Met,c.1713A>G,missense_variant,Conflicting interpretations of pathogenicity,186051,,8,1613636,0.000004957747596112135,0,0,afr,0.000043699999999999985,0.773,0.481,0.00,0.00,-0.483,0.110,0.0190,7,74990,0,0,1,59938,0,0,0,29594,0,0,0,44876,0,0,0,63842,0,0,0,6048,0,0,0,1179932,0,0,0,910,0,0,0,91028,0,0,0,62478,0,0 -17-43093819-A-G,17,43093819,rs80357159,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile571Thr,p.Ile571Thr,c.1712T>C,missense_variant,Conflicting interpretations of pathogenicity,54330,,31,1613480,0.000019213129384931948,0,0,amr,0.00001329,0.167,0.539,0.00,0.00,0.762,0.680,0.00,1,74970,0,0,3,59910,0,0,0,29596,0,0,0,44864,0,0,0,63800,0,0,0,6048,0,0,23,1179886,0,0,0,912,0,0,1,91014,0,0,3,62480,0,0 -17-43093820-T-C,17,43093820,rs1310719199,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile571Val,p.Ile571Val,c.1711A>G,missense_variant,Conflicting interpretations of pathogenicity,462566,,16,1461320,0.000010949005009169792,0,0,nfe,0.0000081,0.144,0.563,0.00,0.00,-1.60,1.00,0.00,0,33414,0,0,0,44650,0,0,0,26124,0,0,0,39686,0,0,0,53212,0,0,0,5756,0,0,15,1111912,0,0,,,,,0,86202,0,0,1,60364,0,0 -17-43093821-T-C,17,43093821,rs876659901,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro570Pro,p.Pro570Pro,c.1710A>G,synonymous_variant,Likely benign,232651,,6,1461090,0.000004106523212122457,0,0,nfe,0.00000194,4.63,,0.00,0.00,0.490,,,0,33378,0,0,0,44604,0,0,0,26118,0,0,0,39686,0,0,0,53210,0,0,0,5758,0,0,6,1111846,0,0,,,,,0,86136,0,0,0,60354,0,0 -17-43093822-G-T,17,43093822,rs879254020,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro570Gln,p.Pro570Gln,c.1709C>A,missense_variant,Conflicting interpretations of pathogenicity,245965,,5,1461132,0.000003422004308987826,0,0,nfe,0.0000013199999999999999,17.4,0.473,0.00,0.00,0.544,0.0100,0.142,0,33400,0,0,0,44614,0,0,0,26116,0,0,0,39686,0,0,0,53198,0,0,0,5754,0,0,5,1111860,0,0,,,,,0,86144,0,0,0,60360,0,0 -17-43093824-G-T,17,43093824,rs876659110,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn569Lys,p.Asn569Lys,c.1707C>A,missense_variant,,,,1,628096,0.0000015921133075198695,0,0,,,7.39,0.399,0.00,0.00,1.13,0.0500,0.0860,0,17630,0,0,0,43654,0,0,0,20970,0,0,0,36056,0,0,0,52906,0,0,0,4132,0,0,0,349984,0,0,,,,,1,69700,0,0,0,33064,0,0 -17-43093825-T-C,17,43093825,rs1060502329,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn569Ser,p.Asn569Ser,c.1706A>G,missense_variant,Conflicting interpretations of pathogenicity,819849,,2,1461158,0.0000013687773669924814,0,0,nfe,2.999999999999999e-7,6.37,0.390,0.00,0.00,0.697,0.240,0.137,0,33412,0,0,0,44634,0,0,0,26122,0,0,0,39684,0,0,0,53200,0,0,0,5746,0,0,2,1111852,0,0,,,,,0,86150,0,0,0,60358,0,0 -17-43093827-A-C,17,43093827,rs587780795,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro568Pro,p.Pro568Pro,c.1704T>G,synonymous_variant,Likely benign,136079,,3,628074,0.000004776507226855434,0,0,amr,0.000007600000000000001,3.87,,0.00,0.00,-0.0890,,,0,17618,0,0,2,43642,0,0,0,20968,0,0,0,36054,0,0,0,52932,0,0,0,4130,0,0,0,349986,0,0,,,,,0,69682,0,0,1,33062,0,0 -17-43093828-G-A,17,43093828,rs80356910,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Leu,p.Pro568Leu,c.1703C>T,missense_variant,Benign,54329,,14,1613200,0.000008678403173816017,1,0,sas,0.0000036500000000000006,16.5,0.407,0.00,0.00,0.973,0.0200,0.0410,0,74800,0,0,0,59872,0,0,0,29590,0,0,0,44878,0,0,0,63780,0,0,3,6066,1,0,8,1179876,0,0,0,912,0,0,2,90976,0,0,1,62450,0,0 -17-43093828-G-C,17,43093828,rs80356910,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Arg,p.Pro568Arg,c.1703C>G,missense_variant,Conflicting interpretations of pathogenicity,54328,,8,1613200,0.000004959087527894867,0,0,nfe,0.00000247,16.4,0.548,0.00,0.00,0.973,0.0200,0.119,0,74800,0,0,1,59872,0,0,0,29590,0,0,0,44878,0,0,0,63780,0,0,0,6066,0,0,7,1179876,0,0,0,912,0,0,0,90976,0,0,0,62450,0,0 -17-43093829-G-A,17,43093829,rs755122577,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Ser,p.Pro568Ser,c.1702C>T,missense_variant,Conflicting interpretations of pathogenicity,185060,,2,780092,0.000002563800167159771,0,0,,,3.70,0.561,0.00,0.00,-0.112,0.130,0.00700,2,59034,0,0,0,58884,0,0,0,24436,0,0,0,41250,0,0,0,63502,0,0,0,4442,0,0,0,417996,0,0,0,912,0,0,0,74494,0,0,0,35142,0,0 -17-43093830-A-AT,17,43093830,rs80357784,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567LysfsTer3,p.Asn567LysfsTer3,c.1700dup,frameshift_variant,Pathogenic,125508,,1,833098,0.0000012003389757267452,0,0,,,17.2,,0.00,0.0100,-0.481,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093831-T-A,17,43093831,rs2053898401,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567Ile,p.Asn567Ile,c.1700A>T,missense_variant,,,,1,1461134,6.843999249897683e-7,0,0,,,16.7,0.434,0.00,0.00,-0.620,0.0100,0.969,0,33402,0,0,0,44612,0,0,0,26122,0,0,0,39684,0,0,0,53196,0,0,0,5746,0,0,1,1111880,0,0,,,,,0,86132,0,0,0,60360,0,0 -17-43093831-T-C,17,43093831,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567Ser,p.Asn567Ser,c.1700A>G,missense_variant,,,,1,1461134,6.843999249897683e-7,0,0,,,2.79,0.307,0.00,0.00,-0.620,0.220,0.474,0,33402,0,0,0,44612,0,0,0,26122,0,0,0,39684,0,0,0,53196,0,0,0,5746,0,0,1,1111880,0,0,,,,,0,86132,0,0,0,60360,0,0 -17-43093836-C-G,17,43093836,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu565Asp,p.Glu565Asp,c.1695G>C,missense_variant,,,,1,833100,0.0000012003360941063497,0,0,,,13.2,0.516,0.00,0.00,2.38,0.0100,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,1,16458,0,0,0,27298,0,0 -17-43093838-C-T,17,43093838,rs886039963,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu565Lys,p.Glu565Lys,c.1693G>A,missense_variant,,,,1,627982,0.0000015924023300030893,0,0,,,13.4,0.553,0.00,0.00,4.08,0.160,0.562,0,17612,0,0,0,43638,0,0,0,20966,0,0,0,36054,0,0,1,52916,0,0,0,4108,0,0,0,349976,0,0,,,,,0,69648,0,0,0,33064,0,0 -17-43093839-A-T,17,43093839,rs2154429843,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn564Lys,p.Asn564Lys,c.1692T>A,missense_variant,,,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,0.334,0.481,0.00,0.00,-0.772,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093841-T-C,17,43093841,rs397507191,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn564Asp,p.Asn564Asp,c.1690A>G,missense_variant,,,,1,628110,0.0000015920778207638789,0,0,,,22.7,0.457,0.00,0.00,2.32,0.0200,0.0100,0,17634,0,0,0,43664,0,0,0,20972,0,0,0,36054,0,0,0,52920,0,0,0,4114,0,0,0,349996,0,0,,,,,0,69680,0,0,1,33076,0,0 -17-43093842-C-A,17,43093842,rs2053899751,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln563His,p.Gln563His,c.1689G>T,missense_variant,,,,1,628024,0.00000159229583582793,0,0,,,20.6,0.494,0.00,0.0100,2.01,0.0500,0.844,0,17620,0,0,0,43646,0,0,0,20966,0,0,0,36052,0,0,0,52918,0,0,0,4102,0,0,0,349988,0,0,,,,,1,69658,0,0,0,33074,0,0 -17-43093844-G-A,17,43093844,rs80356898,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln563Ter,p.Gln563Ter,c.1687C>T,stop_gained,Pathogenic,37426,,15,1613306,0.000009297678183803941,0,0,nfe,0.00000763,36.0,,0.00,0.0100,4.84,,,0,74864,0,0,0,59912,0,0,0,29596,0,0,0,44886,0,0,0,63760,0,0,0,6052,0,0,15,1179908,0,0,0,912,0,0,0,90946,0,0,0,62470,0,0 -17-43093844-G-C,17,43093844,rs80356898,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln563Glu,p.Gln563Glu,c.1687C>G,missense_variant,,,,1,1461232,6.843540245491476e-7,0,0,,,22.5,0.497,0.00,0.00,4.84,0.0200,0.780,0,33452,0,0,0,44660,0,0,0,26126,0,0,1,39684,0,0,0,53170,0,0,0,5736,0,0,0,1111906,0,0,,,,,0,86118,0,0,0,60380,0,0 -17-43093848-A-G,17,43093848,rs1567798735,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser561Ser,p.Ser561Ser,c.1683T>C,synonymous_variant,Uncertain significance,619621,,1,628228,0.0000015917787809521384,0,0,,,7.70,,0.00,0.00,1.77,,,0,17672,0,0,0,43680,0,0,0,20972,0,0,0,36054,0,0,0,52926,0,0,0,4118,0,0,1,350030,0,0,,,,,0,69696,0,0,0,33080,0,0 -17-43093850-A-AATCACCTTTTGTTTTATTCTCATG,17,43093850,rs2053901411,A,AATCACCTTTTGTTTTATTCTCATG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His553_Asp560dup,p.His553_Asp560dup,c.1657_1680dup,inframe_insertion,Uncertain significance,1018104,,1,628260,0.0000015916977047719097,0,0,,,9.90,,0.00,0.0100,-0.752,,,0,17676,0,0,0,43692,0,0,0,20974,0,0,0,36054,0,0,0,52930,0,0,0,4118,0,0,1,350034,0,0,,,,,0,69698,0,0,0,33084,0,0 -17-43093851-A-G,17,43093851,rs2154430469,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp560Asp,p.Asp560Asp,c.1680T>C,synonymous_variant,Likely benign,1128597,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,7.63,,0.00,0.00,0.681,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093852-T-A,17,43093852,rs1567798739,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp560Val,p.Asp560Val,c.1679A>T,missense_variant,Conflicting interpretations of pathogenicity,628573,,1,628286,0.0000015916318364566456,0,0,,,10.5,0.525,0.00,0.00,-1.12,0.0600,0.643,0,17678,0,0,0,43702,0,0,0,20978,0,0,0,36054,0,0,0,52936,0,0,0,4110,0,0,0,350040,0,0,,,,,0,69702,0,0,1,33086,0,0 -17-43093854-A-T,17,43093854,rs2053901841,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Gly,p.Gly559Gly,c.1677T>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.38,,0.00,0.00,0.0490,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093855-C-T,17,43093855,rs80356980,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Asp,p.Gly559Asp,c.1676G>A,missense_variant,Conflicting interpretations of pathogenicity,630049,,3,1461440,0.0000020527698708123493,0,0,nfe,7.200000000000001e-7,4.65,0.577,0.00,0.00,-1.61,0.0700,0.125,0,33472,0,0,0,44700,0,0,0,26130,0,0,0,39680,0,0,0,53224,0,0,0,5730,0,0,3,1111940,0,0,,,,,0,86182,0,0,0,60382,0,0 -17-43093856-C-T,17,43093856,rs1555591384,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Ser,p.Gly559Ser,c.1675G>A,missense_variant,Conflicting interpretations of pathogenicity,462565,,1,833108,0.0000012003245677631232,0,0,,,0.864,0.517,0.00,0.00,-0.584,0.0800,0.210,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093858-T-C,17,43093858,rs2154430983,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys558Arg,p.Lys558Arg,c.1673A>G,missense_variant,,,,3,1461486,0.0000020527052602625,0,0,nfe,7.200000000000001e-7,11.7,0.548,0.00,0.00,1.35,0.0700,0.298,0,33472,0,0,0,44698,0,0,0,26130,0,0,0,39684,0,0,0,53226,0,0,0,5736,0,0,3,1111954,0,0,,,,,0,86202,0,0,0,60384,0,0 -17-43093858-T-A,17,43093858,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys558Ile,p.Lys558Ile,c.1673A>T,missense_variant,Conflicting interpretations of pathogenicity,1777742,,4,1461486,0.0000027369403470166666,0,0,nfe,8.4e-7,21.3,0.521,0.00,0.00,1.35,0.0100,0.642,0,33472,0,0,0,44698,0,0,0,26130,0,0,0,39684,0,0,0,53226,0,0,0,5736,0,0,4,1111954,0,0,,,,,0,86202,0,0,0,60384,0,0 -17-43093868-T-C,17,43093868,rs2053904001,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn555Asp,p.Asn555Asp,c.1663A>G,missense_variant,Conflicting interpretations of pathogenicity,945062,,2,628440,0.0000031824836102094074,0,0,sas,0.00000476,13.5,0.367,0.00,0.0100,1.31,0.110,0.443,0,17694,0,0,0,43722,0,0,0,20978,0,0,0,36056,0,0,0,52970,0,0,0,4120,0,0,0,350052,0,0,,,,,2,69762,0,0,0,33086,0,0 -17-43093873-T-C,17,43093873,rs748431827,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His553Arg,p.His553Arg,c.1658A>G,missense_variant,Conflicting interpretations of pathogenicity,943608,,3,780720,0.00000384260682446972,0,0,afr,0.00001346,8.80,0.557,0.00,0.00,-0.106,0.190,0.00700,3,59158,0,0,0,59010,0,0,0,24448,0,0,0,41256,0,0,0,63614,0,0,0,4444,0,0,0,418090,0,0,0,912,0,0,0,74610,0,0,0,35178,0,0 -17-43093874-G-T,17,43093874,rs1176222161,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His553Asn,p.His553Asn,c.1657C>A,missense_variant,,,,2,628392,0.0000031827267056232416,0,0,,,5.44,0.399,0.00,0.0100,2.22,0.280,0.0150,0,17692,0,0,0,43722,0,0,0,20976,0,0,0,36056,0,0,0,52960,0,0,0,4126,0,0,1,350060,0,0,,,,,1,69714,0,0,0,33086,0,0 -17-43093876-CCACTATTAGTAATATTCAT-C,17,43093876,rs80359881,CCACTATTAGTAATATTCAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met546ValfsTer20,p.Met546ValfsTer20,c.1636_1654del,frameshift_variant,Pathogenic,54315,,1,833096,0.0000012003418573609765,0,0,,,23.4,,0.0100,0.0200,1.33,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093877-C-T,17,43093877,rs758598971,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly552Ser,p.Gly552Ser,c.1654G>A,missense_variant,Conflicting interpretations of pathogenicity,232405,,7,780504,0.000008968563902299028,0,0,,,9.66,0.528,0.00,0.00,0.457,0.160,0.142,0,59092,0,0,0,58976,0,0,0,24444,0,0,0,41252,0,0,7,63554,0,0,0,4442,0,0,0,418060,0,0,0,912,0,0,0,74594,0,0,0,35178,0,0 -17-43093880-T-G,17,43093880,rs730881472,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser551Arg,p.Ser551Arg,c.1651A>C,missense_variant,Conflicting interpretations of pathogenicity,950867,,1,1461594,6.84184527303752e-7,0,0,,,8.37,0.605,0.00,0.0100,0.378,0.100,0.00900,0,33478,0,0,0,44712,0,0,0,26130,0,0,0,39686,0,0,0,53260,0,0,0,5750,0,0,1,1111954,0,0,,,,,0,86240,0,0,0,60384,0,0 -17-43093880-T-TA,17,43093880,rs753524038,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser551Ter,p.Ser551Ter,c.1650dup,frameshift_variant,Pathogenic,254396,,2,1613922,0.0000012392172608093824,0,0,,,22.1,,0.00,0.00,0.378,,,0,75054,0,0,0,60014,0,0,0,29600,0,0,0,44876,0,0,0,63882,0,0,0,6044,0,0,0,1179978,0,0,0,912,0,0,2,91066,0,0,0,62496,0,0 -17-43093881-A-G,17,43093881,rs777595821,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn550Asn,p.Asn550Asn,c.1650T>C,synonymous_variant,Likely benign,427340,,5,1461598,0.0000034209132743750334,0,0,sas,0.000021940000000000003,5.46,,0.00,0.0100,-0.00900,,,0,33478,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53256,0,0,0,5752,0,0,0,1111952,0,0,,,,,5,86242,0,0,0,60388,0,0 -17-43093883-T-G,17,43093883,rs56012641,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn550His,p.Asn550His,c.1648A>C,missense_variant,Benign,37423,,542,1613938,0.00033582454840272674,8,0,amr,0.0002888600000000001,20.0,0.361,0.00,0.00,0.450,0.0100,0.880,5,75046,0,0,25,60014,0,0,0,29602,0,0,2,44878,0,0,1,63890,0,0,111,6040,6,0,322,1179984,0,0,0,910,0,0,29,91072,2,0,47,62502,0,0 -17-43093883-TAGTAATATTCA-T,17,43093883,,TAGTAATATTCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met546LysfsTer2,p.Met546LysfsTer2,c.1637_1647del,frameshift_variant,,,,1,1461606,6.84178910048262e-7,0,0,,,23.4,,0.00,0.0100,0.450,,,0,33474,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,0,53266,0,0,0,5748,0,0,0,1111956,0,0,,,,,0,86244,0,0,1,60388,0,0 -17-43093892-T-G,17,43093892,rs1060502351,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn547His,p.Asn547His,c.1639A>C,missense_variant,Conflicting interpretations of pathogenicity,409349,,1,152188,0.000006570820301206403,0,0,,,6.89,0.477,0.00,0.00,-0.364,,,1,41446,0,0,0,15268,0,0,0,3468,0,0,0,5206,0,0,0,10618,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43093898-C-T,17,43093898,rs1304908704,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val545Met,p.Val545Met,c.1633G>A,missense_variant,,,,1,628572,0.000001590907644629414,0,0,,,15.5,0.496,0.00,0.00,1.35,0.0400,0.335,0,17694,0,0,0,43726,0,0,0,20978,0,0,0,36054,0,0,1,53040,0,0,0,4140,0,0,0,350062,0,0,,,,,0,69784,0,0,0,33094,0,0 -17-43093899-T-C,17,43093899,rs876658401,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln544Gln,p.Gln544Gln,c.1632A>G,synonymous_variant,Likely benign,230123,,1,628564,0.0000015909278927841874,0,0,,,0.210,,0.00,0.0300,-1.96,,,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36054,0,0,0,53042,0,0,0,4140,0,0,1,350060,0,0,,,,,0,69778,0,0,0,33094,0,0 -17-43093900-T-C,17,43093900,rs397508892,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln544Arg,p.Gln544Arg,c.1631A>G,missense_variant,,,,1,628586,0.0000015908722115987311,0,0,,,15.9,0.606,0.00,0.00,-0.183,0.0500,0.0220,0,17694,0,0,0,43728,0,0,0,20978,0,0,0,36054,0,0,0,53050,0,0,0,4142,0,0,1,350064,0,0,,,,,0,69784,0,0,0,33092,0,0 -17-43093905-A-G,17,43093905,rs1281191417,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn542Asn,p.Asn542Asn,c.1626T>C,synonymous_variant,,,,1,628590,0.000001590862088165577,0,0,,,1.53,,0.00,0.00,-0.366,,,0,17694,0,0,1,43726,0,0,0,20980,0,0,0,36054,0,0,0,53062,0,0,0,4140,0,0,0,350064,0,0,,,,,0,69776,0,0,0,33094,0,0 -17-43093905-A-T,17,43093905,rs1281191417,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn542Lys,p.Asn542Lys,c.1626T>A,missense_variant,,,,1,628590,0.000001590862088165577,0,0,,,6.00,0.493,0.00,0.0100,-0.366,0.0900,0.178,0,17694,0,0,0,43726,0,0,0,20980,0,0,0,36054,0,0,1,53062,0,0,0,4140,0,0,0,350064,0,0,,,,,0,69776,0,0,0,33094,0,0 -17-43093907-T-TC,17,43093907,rs397508891,T,TC,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn542GlufsTer9,p.Asn542GlufsTer9,c.1623dup,frameshift_variant,Pathogenic,54312,,1,152220,0.000006569438969911969,0,0,,,20.6,,0.00,0.00,0.503,,,1,41456,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43093912-T-G,17,43093912,rs1375255651,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu540Ala,p.Glu540Ala,c.1619A>C,missense_variant,,,,1,628574,0.0000015909025826712528,0,0,,,6.66,0.542,0.00,0.00,1.00,0.150,0.410,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36050,0,0,0,53072,0,0,0,4140,0,0,1,350052,0,0,,,,,0,69774,0,0,0,33090,0,0 -17-43093913-C-T,17,43093913,rs730881471,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu540Lys,p.Glu540Lys,c.1618G>A,missense_variant,Conflicting interpretations of pathogenicity,182133,,1,628562,0.0000015909329549034144,0,0,,,11.3,0.559,0.00,0.00,1.66,0.140,0.298,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36050,0,0,0,53062,0,0,1,4142,0,0,0,350054,0,0,,,,,0,69768,0,0,0,33090,0,0 -17-43093914-C-T,17,43093914,rs372002119,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr539Thr,p.Thr539Thr,c.1617G>A,synonymous_variant,Likely benign,185046,,34,1613714,0.00002106940882956955,0,0,afr,0.00001747,2.42,,0.00,0.00,0.500,,,4,74876,0,0,3,59966,0,0,0,29602,0,0,0,44870,0,0,0,63932,0,0,0,6076,0,0,23,1179948,0,0,0,910,0,0,3,91052,0,0,1,62482,0,0 -17-43093915-G-T,17,43093915,rs80357374,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr539Lys,p.Thr539Lys,c.1616C>A,missense_variant,Conflicting interpretations of pathogenicity,182132,,2,1461640,0.0000013683259899838538,0,0,nfe,2.999999999999999e-7,9.15,0.578,0.00,0.00,-0.523,0.0500,0.0180,0,33478,0,0,0,44706,0,0,0,26130,0,0,0,39682,0,0,0,53338,0,0,0,5758,0,0,2,1111936,0,0,,,,,0,86226,0,0,0,60386,0,0 -17-43093915-G-A,17,43093915,rs80357374,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr539Met,p.Thr539Met,c.1616C>T,missense_variant,Benign,54310,,81,1613808,0.000050191844382974925,0,0,sas,0.00032176000000000004,0.268,0.467,0.00,0.00,-0.523,1.00,0.00,1,75008,0,0,0,59986,0,0,0,29602,0,0,0,44860,0,0,0,63916,0,0,3,6052,0,0,36,1179930,0,0,0,908,0,0,39,91050,0,0,2,62496,0,0 -17-43093918-T-C,17,43093918,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln538Arg,p.Gln538Arg,c.1613A>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,13.9,0.537,0.00,0.00,1.08,0.0700,0.210,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093920-G-C,17,43093920,rs1316419984,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn537Lys,p.Asn537Lys,c.1611C>G,missense_variant,,,,3,628572,0.000004772722933888242,0,0,sas,0.00001142,9.57,0.406,0.00,0.00,0.483,0.140,0.0900,0,17694,0,0,0,43718,0,0,0,20978,0,0,0,36050,0,0,0,53082,0,0,0,4148,0,0,0,350044,0,0,,,,,3,69770,0,0,0,33088,0,0 -17-43093922-T-C,17,43093922,rs398122639,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn537Asp,p.Asn537Asp,c.1609A>G,missense_variant,Conflicting interpretations of pathogenicity,91558,,16,1613880,0.000009913996083971547,0,0,afr,0.00013299999999999998,4.05,0.352,0.00,0.00,0.852,1.00,0.00,16,74932,0,0,0,59974,0,0,0,29600,0,0,0,44886,0,0,0,63978,0,0,0,6084,0,0,0,1179976,0,0,0,912,0,0,0,91062,0,0,0,62476,0,0 -17-43093923-A-C,17,43093923,rs1555591482,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr536Thr,p.Thr536Thr,c.1608T>G,synonymous_variant,Conflicting interpretations of pathogenicity,485398,,1,833096,0.0000012003418573609765,0,0,,,6.64,,0.00,0.00,-0.162,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43093924-G-A,17,43093924,rs398122638,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr536Ile,p.Thr536Ile,c.1607C>T,missense_variant,Conflicting interpretations of pathogenicity,819657,,1,628548,0.0000015909683906400147,0,0,,,17.1,0.507,0.00,0.00,0.983,0.0500,0.566,0,17694,0,0,1,43708,0,0,0,20976,0,0,0,36050,0,0,0,53076,0,0,0,4146,0,0,0,350042,0,0,,,,,0,69768,0,0,0,33088,0,0 -17-43093930-T-C,17,43093930,rs80357173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln534Arg,p.Gln534Arg,c.1601A>G,missense_variant,Conflicting interpretations of pathogenicity,54304,,2,628562,0.000003181865909806829,0,0,,,20.4,0.451,0.00,0.0100,1.30,0.0200,0.115,0,17694,0,0,0,43708,0,0,0,20978,0,0,1,36052,0,0,0,53090,0,0,0,4146,0,0,1,350038,0,0,,,,,0,69770,0,0,0,33086,0,0 -17-43093931-G-C,17,43093931,rs142074233,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln534Glu,p.Gln534Glu,c.1600C>G,missense_variant,,,,5,985148,0.000005075379536881768,0,0,nfe,0.0000017699999999999998,9.23,0.371,0.00,0.00,2.84,0.420,0.0150,0,57190,0,0,0,16242,0,0,0,8622,0,0,0,8814,0,0,0,10858,0,0,0,1936,0,0,5,829898,0,0,0,912,0,0,0,21292,0,0,0,29384,0,0 -17-43093932-A-G,17,43093932,rs1199322858,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn533Asn,p.Asn533Asn,c.1599T>C,synonymous_variant,Likely benign,819640,,2,780658,0.000002561941336667273,0,0,,,4.91,,0.00,0.00,0.242,,,2,59098,0,0,0,58964,0,0,0,24446,0,0,0,41238,0,0,0,63690,0,0,0,4464,0,0,0,418068,0,0,0,912,0,0,0,74598,0,0,0,35180,0,0 -17-43093933-T-C,17,43093933,rs786204263,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn533Ser,p.Asn533Ser,c.1598A>G,missense_variant,Conflicting interpretations of pathogenicity,188408,,6,833064,0.000007202327792342485,0,0,nfe,0.00000283,0.927,0.369,0.00,0.00,-0.101,0.700,0.146,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761862,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093937-T-A,17,43093937,rs2053915860,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile532Leu,p.Ile532Leu,c.1594A>T,missense_variant,Conflicting interpretations of pathogenicity,926833,,1,833062,0.0000012003908472598677,0,0,,,8.62,0.472,0.00,0.00,-0.210,0.220,0.0200,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43093938-C-T,17,43093938,rs2154434764,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met531Ile,p.Met531Ile,c.1593G>A,missense_variant,,,,1,1461588,6.841873359660862e-7,0,0,,,11.0,0.534,0.00,0.00,0.809,0.0200,0.00,0,33476,0,0,0,44684,0,0,0,26130,0,0,0,39680,0,0,0,53374,0,0,0,5766,0,0,0,1111886,0,0,,,,,1,86210,0,0,0,60382,0,0 -17-43093940-T-C,17,43093940,rs2053916000,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met531Val,p.Met531Val,c.1591A>G,missense_variant,Conflicting interpretations of pathogenicity,1063010,,1,628526,0.000001591024078558405,0,0,,,16.1,0.459,0.00,0.00,1.02,0.0100,0.00,0,17694,0,0,0,43696,0,0,0,20980,0,0,0,36048,0,0,0,53096,0,0,0,4148,0,0,0,350028,0,0,,,,,0,69750,0,0,1,33086,0,0 -17-43093944-A-C,17,43093944,rs1597875228,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro529Pro,p.Pro529Pro,c.1587T>G,synonymous_variant,Likely benign,1101458,,1,628516,0.000001591049392537342,0,0,,,11.0,,0.00,0.00,0.293,,,0,17694,0,0,0,43698,0,0,0,20980,0,0,0,36046,0,0,0,53088,0,0,0,4148,0,0,1,350024,0,0,,,,,0,69748,0,0,0,33090,0,0 -17-43093950-C-G,17,43093950,rs80357493,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys527Asn,p.Lys527Asn,c.1581G>C,missense_variant,Conflicting interpretations of pathogenicity,54300,,42,1613716,0.00002602688453234646,0,0,nfe,0.00002665,20.1,0.549,0.00,0.00,0.964,0.0300,0.814,0,74922,0,0,0,59936,0,0,0,29604,0,0,0,44876,0,0,0,63968,0,0,0,6084,0,0,42,1179938,0,0,0,912,0,0,0,91000,0,0,0,62476,0,0 -17-43093950-CTT-C,17,43093950,rs431825387,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys527AspfsTer3,p.Lys527AspfsTer3,c.1579_1580del,frameshift_variant,Pathogenic,96902,,2,1461576,0.0000013683859067198696,0,0,nfe,2.999999999999999e-7,24.2,,0.00,0.00,0.964,,,0,33480,0,0,0,44678,0,0,0,26132,0,0,0,39676,0,0,0,53366,0,0,0,5768,0,0,2,1111920,0,0,,,,,0,86172,0,0,0,60384,0,0 -17-43093951-T-C,17,43093951,rs774959350,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys527Arg,p.Lys527Arg,c.1580A>G,missense_variant,Conflicting interpretations of pathogenicity,418567,,1,628458,0.0000015911962295014146,0,0,,,22.5,0.672,0.00,0.00,4.71,0.100,0.742,0,17694,0,0,0,43700,0,0,0,20980,0,0,0,36044,0,0,0,53090,0,0,0,4148,0,0,1,350008,0,0,,,,,0,69712,0,0,0,33082,0,0 -17-43093953-T-C,17,43093953,rs762642319,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln526Gln,p.Gln526Gln,c.1578A>G,synonymous_variant,Likely benign,427361,,1,628490,0.0000015911152126525483,0,0,,,7.82,,0.00,0.00,-0.557,,,0,17692,0,0,0,43704,0,0,0,20980,0,0,0,36046,0,0,0,53100,0,0,0,4148,0,0,0,350018,0,0,,,,,1,69716,0,0,0,33086,0,0 -17-43093954-T-C,17,43093954,rs2053917320,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln526Arg,p.Gln526Arg,c.1577A>G,missense_variant,,,,1,628466,0.0000015911759745157255,0,0,,,14.8,0.582,0.00,0.00,0.815,0.120,0.133,0,17688,0,0,0,43696,0,0,0,20980,0,0,0,36046,0,0,0,53104,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69706,0,0,0,33082,0,0 -17-43093957-A-G,17,43093957,rs879253902,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val525Ala,p.Val525Ala,c.1574T>C,missense_variant,Conflicting interpretations of pathogenicity,245690,,2,1461562,0.0000013683990142053501,0,0,sas,0.00000385,21.9,0.648,0.00,0.00,0.571,0.0100,0.688,0,33476,0,0,0,44680,0,0,0,26132,0,0,0,39676,0,0,0,53378,0,0,0,5768,0,0,0,1111914,0,0,,,,,2,86152,0,0,0,60386,0,0 -17-43093958-C-T,17,43093958,rs80357273,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val525Ile,p.Val525Ile,c.1573G>A,missense_variant,Conflicting interpretations of pathogenicity,54298,,14,1613566,0.000008676434679461516,0,0,afr,0.00009216999999999998,10.5,0.629,0.00,0.00,1.59,0.0900,0.348,12,74892,0,0,0,59932,0,0,0,29600,0,0,0,44882,0,0,0,63970,0,0,0,6082,0,0,0,1179878,0,0,0,912,0,0,0,90944,0,0,2,62474,0,0 -17-43093960-G-A,17,43093960,rs80357333,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala524Val,p.Ala524Val,c.1571C>T,missense_variant,Conflicting interpretations of pathogenicity,54297,,5,1461378,0.000003421428268387782,0,0,nfe,7.200000000000001e-7,16.4,0.528,0.00,0.0100,2.87,0.250,0.558,0,33462,0,0,1,44658,0,0,0,26126,0,0,0,39676,0,0,0,53362,0,0,0,5760,0,0,3,1111864,0,0,,,,,0,86092,0,0,1,60378,0,0 -17-43093961-C-T,17,43093961,rs761178502,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala524Thr,p.Ala524Thr,c.1570G>A,missense_variant,Conflicting interpretations of pathogenicity,940587,,4,1461454,0.0000027370002750685276,0,0,sas,0.000015850000000000002,8.69,0.578,0.00,0.00,-0.683,0.230,0.0270,0,33468,0,0,0,44664,0,0,0,26132,0,0,0,39678,0,0,0,53372,0,0,0,5766,0,0,0,1111888,0,0,,,,,4,86100,0,0,0,60386,0,0 -17-43093962-C-T,17,43093962,rs766934857,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Leu,p.Leu523Leu,c.1569G>A,synonymous_variant,Likely benign,427339,,1,628360,0.000001591444394932841,0,0,,,8.44,,0.00,0.00,2.29,,,0,17676,0,0,0,43684,0,0,0,20978,0,0,0,36050,0,0,0,53106,0,0,0,4146,0,0,1,349986,0,0,,,,,0,69648,0,0,0,33086,0,0 -17-43093963-A-C,17,43093963,rs397508885,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Trp,p.Leu523Trp,c.1568T>G,missense_variant,Conflicting interpretations of pathogenicity,54295,,1,628390,0.0000015913684177023822,0,0,,,23.7,0.613,0.00,0.00,1.02,0.00,0.928,0,17680,0,0,0,43690,0,0,0,20978,0,0,0,36052,0,0,0,53112,0,0,0,4146,0,0,1,349998,0,0,,,,,0,69648,0,0,0,33086,0,0 -17-43093964-A-C,17,43093964,rs754398271,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Val,p.Leu523Val,c.1567T>G,missense_variant,Conflicting interpretations of pathogenicity,937374,,1,628394,0.0000015913582879530996,0,0,,,15.2,0.612,0.00,0.00,0.0970,0.100,0.530,0,17680,0,0,0,43684,0,0,0,20980,0,0,0,36052,0,0,0,53116,0,0,0,4146,0,0,1,350000,0,0,,,,,0,69648,0,0,0,33088,0,0 -17-43093967-C-A,17,43093967,rs80357453,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp522Tyr,p.Asp522Tyr,c.1564G>T,missense_variant,,,,1,628356,0.0000015914545257783803,0,0,,,24.7,0.825,0.00,0.00,5.04,0.00,0.996,0,17676,0,0,0,43680,0,0,0,20974,0,0,0,36054,0,0,0,53112,0,0,0,4144,0,0,1,349992,0,0,,,,,0,69638,0,0,0,33086,0,0 -17-43093968-T-C,17,43093968,rs754970915,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala521Ala,p.Ala521Ala,c.1563A>G,synonymous_variant,Likely benign,427318,,5,628320,0.00000795772854596384,0,0,sas,0.000027970000000000005,11.5,,0.00,0.00,1.14,,,0,17674,0,0,0,43678,0,0,0,20976,0,0,0,36054,0,0,0,53108,0,0,0,4146,0,0,0,349976,0,0,,,,,5,69620,0,0,0,33088,0,0 -17-43093970-C-T,17,43093970,rs80357122,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala521Thr,p.Ala521Thr,c.1561G>A,missense_variant,Conflicting interpretations of pathogenicity,54291,,51,1613534,0.00003160763888458502,0,0,afr,0.0005199600000000002,16.0,0.530,0.00,0.00,2.02,0.350,0.127,50,74886,0,0,0,59914,0,0,0,29598,0,0,0,44886,0,0,0,63976,0,0,0,6080,0,0,0,1179902,0,0,0,912,0,0,0,90906,0,0,1,62474,0,0 -17-43093974-CT-C,17,43093974,rs80357662,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys519ArgfsTer13,p.Lys519ArgfsTer13,c.1556del,frameshift_variant,Pathogenic,17685,,3,1461400,0.0000020528260572054195,0,0,nfe,7.200000000000001e-7,27.6,,0.00,0.00,4.24,,,0,33460,0,0,0,44648,0,0,0,26126,0,0,0,39682,0,0,0,53384,0,0,0,5764,0,0,3,1111872,0,0,,,,,0,86086,0,0,0,60378,0,0 -17-43093976-T-G,17,43093976,rs397508882,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys519Gln,p.Lys519Gln,c.1555A>C,missense_variant,Conflicting interpretations of pathogenicity,54290,,6,1613606,0.0000037183798275415438,0,0,nfe,0.00000183,25.5,0.874,0.00,0.00,6.33,0.00,0.947,0,74918,0,0,0,59922,0,0,0,29598,0,0,0,44886,0,0,0,64012,0,0,0,6082,0,0,6,1179902,0,0,0,912,0,0,0,90898,0,0,0,62476,0,0 -17-43093977-G-A,17,43093977,rs1064794487,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile518Ile,p.Ile518Ile,c.1554C>T,synonymous_variant,,,,1,628300,0.0000015915963711602737,0,0,,,9.09,,0.00,0.00,1.90,,,0,17670,0,0,0,43666,0,0,0,20970,0,0,0,36054,0,0,0,53122,0,0,0,4146,0,0,1,349984,0,0,,,,,0,69604,0,0,0,33084,0,0 -17-43093978-A-G,17,43093978,rs1567799193,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile518Thr,p.Ile518Thr,c.1553T>C,missense_variant,Conflicting interpretations of pathogenicity,582489,,1,833108,0.0000012003245677631232,0,0,,,25.8,0.917,0.00,0.00,6.31,0.00,0.927,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093979-TAA-T,17,43093979,,TAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe517TyrfsTer13,p.Phe517TyrfsTer13,c.1550_1551del,frameshift_variant,,,,1,833108,0.0000012003245677631232,0,0,,,28.5,,0.00,0.00,4.72,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093982-A-G,17,43093982,rs2154438040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe517Leu,p.Phe517Leu,c.1549T>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,26.9,0.948,0.00,0.00,6.31,0.0100,0.922,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43093988-C-T,17,43093988,rs886037990,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu515Lys,p.Glu515Lys,c.1543G>A,missense_variant,Conflicting interpretations of pathogenicity,631084,,1,833106,0.0000012003274493281767,0,0,,,26.1,0.900,0.00,0.00,8.87,0.00,0.992,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093990-G-A,17,43093990,rs56100707,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro514Leu,p.Pro514Leu,c.1541C>T,missense_variant,Conflicting interpretations of pathogenicity,619620,,2,152066,0.000013152183920139938,0,0,afr,0.00000801,26.3,0.823,0.00,0.00,8.76,,,2,41394,0,0,0,15254,0,0,0,3472,0,0,0,5194,0,0,0,10580,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43093993-T-C,17,43093993,rs1356078500,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Arg,p.His513Arg,c.1538A>G,missense_variant,Conflicting interpretations of pathogenicity,531377,,2,628542,0.0000031819671557350185,0,0,,,6.29,0.527,0.00,0.00,0.0890,0.180,0.0400,0,17686,0,0,0,43706,0,0,0,20976,0,0,0,36054,0,0,0,53122,0,0,0,4148,0,0,1,350026,0,0,,,,,1,69742,0,0,0,33082,0,0 -17-43093993-T-G,17,43093993,rs1356078500,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Pro,p.His513Pro,c.1538A>C,missense_variant,Conflicting interpretations of pathogenicity,1774749,,1,628542,0.0000015909835778675093,0,0,,,18.6,0.583,0.00,0.00,0.0890,0.0100,0.707,0,17686,0,0,0,43706,0,0,0,20976,0,0,0,36054,0,0,0,53122,0,0,0,4148,0,0,1,350026,0,0,,,,,0,69742,0,0,0,33082,0,0 -17-43093994-G-A,17,43093994,rs2154439034,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Tyr,p.His513Tyr,c.1537C>T,missense_variant,Conflicting interpretations of pathogenicity,1774740,,1,833102,0.0000012003332124997898,0,0,,,7.11,0.505,0.00,0.00,0.990,0.130,0.0400,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43093997-G-C,17,43093997,rs41286294,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu512Val,p.Leu512Val,c.1534C>G,missense_variant,Conflicting interpretations of pathogenicity,141741,,2,1461684,0.0000013682848002714677,0,0,nfe,2.999999999999999e-7,24.2,0.687,0.00,0.00,8.76,0.00,0.986,0,33474,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53396,0,0,0,5768,0,0,2,1111938,0,0,,,,,0,86206,0,0,0,60382,0,0 -17-43093997-G-A,17,43093997,rs41286294,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu512Phe,p.Leu512Phe,c.1534C>T,missense_variant,Benign,37420,,190,1613824,0.00011773278870558376,0,0,nfe,0.00013249,24.7,0.716,0.00,0.00,8.76,0.00,0.998,0,74904,0,0,0,59970,0,0,0,29598,0,0,0,44880,0,0,0,63998,0,0,0,6084,0,0,178,1179972,0,0,0,912,0,0,0,91036,0,0,12,62470,0,0 -17-43093998-G-GC,17,43093998,,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu512ProfsTer4,p.Leu512ProfsTer4,c.1532dup,frameshift_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,23.1,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,1,39686,0,0,0,53392,0,0,0,5768,0,0,0,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 -17-43093998-G-A,17,43093998,rs1280391272,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly511Gly,p.Gly511Gly,c.1533C>T,synonymous_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,3.70,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53392,0,0,0,5768,0,0,1,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 -17-43093998-G-T,17,43093998,rs1280391272,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly511Gly,p.Gly511Gly,c.1533C>A,synonymous_variant,Likely benign,462562,,5,1461678,0.000003420726042261018,0,0,nfe,0.0000013199999999999999,3.10,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53392,0,0,0,5768,0,0,5,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 -17-43093999-C-A,17,43093999,rs397507188,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly511Val,p.Gly511Val,c.1532G>T,missense_variant,Conflicting interpretations of pathogenicity,37419,,1,152080,0.000006575486586007364,0,0,,,17.9,0.563,0.00,0.00,4.20,0.270,0.596,0,41402,0,0,0,15250,0,0,0,3470,0,0,0,5200,0,0,0,10594,0,0,0,316,0,0,0,68018,0,0,0,910,0,0,0,4830,0,0,1,2090,0,0 -17-43094003-A-T,17,43094003,rs777916645,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser510Thr,p.Ser510Thr,c.1528T>A,missense_variant,Conflicting interpretations of pathogenicity,1315521,,2,628622,0.0000031815622106766867,0,0,sas,0.00000476,6.33,0.600,0.00,0.00,-0.900,0.250,0.223,0,17686,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,0,53124,0,0,0,4148,0,0,0,350056,0,0,,,,,2,69764,0,0,0,33086,0,0 -17-43094006-T-C,17,43094006,rs1238203770,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr509Ala,p.Thr509Ala,c.1525A>G,missense_variant,Likely benign,1275855,,1,628636,0.000001590745677943993,0,0,,,5.81,0.568,0.00,0.00,-1.15,0.160,0.0490,0,17690,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,0,53126,0,0,0,4148,0,0,1,350056,0,0,,,,,0,69766,0,0,0,33092,0,0 -17-43094007-A-G,17,43094007,rs200616937,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro508Pro,p.Pro508Pro,c.1524T>C,synonymous_variant,Likely benign,427337,,6,780898,0.000007683461860575901,0,0,amr,0.00004343999999999998,6.55,,0.00,0.00,-0.0790,,,0,59256,0,0,6,59008,0,0,0,24444,0,0,0,41244,0,0,0,63732,0,0,0,4442,0,0,0,418070,0,0,0,912,0,0,0,74586,0,0,0,35204,0,0 -17-43094009-G-A,17,43094009,rs1555591622,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro508Ser,p.Pro508Ser,c.1522C>T,missense_variant,Conflicting interpretations of pathogenicity,1774458,,1,1461740,6.841161902937595e-7,0,0,,,0.0690,0.537,0.00,0.00,-1.72,0.260,0.00300,0,33478,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111960,0,0,,,,,1,86222,0,0,0,60390,0,0 -17-43094009-G-C,17,43094009,rs1555591622,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro508Ala,p.Pro508Ala,c.1522C>G,missense_variant,Likely benign,482916,,1,1461740,6.841161902937595e-7,0,0,,,0.0440,0.549,0.00,0.00,-1.72,0.110,0.00300,0,33478,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,1,1111960,0,0,,,,,0,86222,0,0,0,60390,0,0 -17-43094010-T-C,17,43094010,rs2154440939,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg507Arg,p.Arg507Arg,c.1521A>G,synonymous_variant,Likely benign,1774426,,2,628634,0.0000031815014778074364,0,0,,,9.58,,0.00,0.00,0.378,,,0,17692,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,1,53126,0,0,0,4146,0,0,1,350056,0,0,,,,,0,69764,0,0,0,33092,0,0 -17-43094014-C-T,17,43094014,rs2053926351,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg506Lys,p.Arg506Lys,c.1517G>A,missense_variant,Uncertain significance,2450667,,1,628680,0.0000015906343449767767,0,0,,,24.5,0.852,0.00,0.00,8.84,0.0200,0.953,0,17694,0,0,0,43730,0,0,0,20980,0,0,1,36056,0,0,0,53128,0,0,0,4144,0,0,0,350072,0,0,,,,,0,69784,0,0,0,33092,0,0 -17-43094015-T-C,17,43094015,rs2154441272,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg506Gly,p.Arg506Gly,c.1516A>G,missense_variant,,,,1,628684,0.0000015906242245706906,0,0,,,26.4,0.924,0.00,0.00,3.68,0.0100,0.997,0,17694,0,0,0,43732,0,0,0,20980,0,0,1,36054,0,0,0,53128,0,0,0,4144,0,0,0,350072,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43094020-C-T,17,43094020,rs56272539,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg504His,p.Arg504His,c.1511G>A,missense_variant,Benign,54278,,81,1614002,0.00005018581141782972,0,0,amr,0.00008997999999999999,16.1,0.658,0.00,0.00,0.981,0.0600,0.344,1,75012,0,0,10,59998,0,0,0,29598,0,0,1,44874,0,0,0,63994,0,0,1,6060,0,0,53,1179976,0,0,0,912,0,0,10,91074,0,0,5,62504,0,0 -17-43094021-G-T,17,43094021,rs80357445,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg504Ser,p.Arg504Ser,c.1510C>A,missense_variant,,,,1,1461764,6.841049581190945e-7,0,0,,,23.5,0.722,0.00,0.00,2.88,0.0100,0.832,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53394,0,0,0,5764,0,0,1,1111960,0,0,,,,,0,86246,0,0,0,60390,0,0 -17-43094021-G-A,17,43094021,rs80357445,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg504Cys,p.Arg504Cys,c.1510C>T,missense_variant,Conflicting interpretations of pathogenicity,54277,,22,1613918,0.000013631423653494168,0,0,afr,0.00001062,23.0,0.649,0.00,0.00,2.88,0.0300,0.344,3,74990,0,0,0,59984,0,0,0,29600,0,0,0,44858,0,0,0,63992,0,0,0,6058,0,0,19,1179966,0,0,0,908,0,0,0,91062,0,0,0,62500,0,0 -17-43094021-GCTTTA-G,17,43094021,rs876659139,GCTTTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502SerfsTer2,p.Leu502SerfsTer2,c.1505_1509del,frameshift_variant,Pathogenic,231406,,5,1461764,0.0000034205247905954723,0,0,nfe,0.0000013199999999999999,25.6,,0.00,0.00,2.88,,,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53394,0,0,0,5764,0,0,5,1111960,0,0,,,,,0,86246,0,0,0,60390,0,0 -17-43094022-CT-C,17,43094022,rs80357506,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503SerfsTer29,p.Lys503SerfsTer29,c.1508del,frameshift_variant,Pathogenic,54275,,4,1461764,0.000002736419832476378,0,0,nfe,8.4e-7,25.4,,0.00,0.00,0.145,,,0,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,4,1111954,0,0,,,,,0,86244,0,0,0,60390,0,0 -17-43094022-C-A,17,43094022,rs919114934,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys503Asn,p.Lys503Asn,c.1509G>T,missense_variant,,,,1,152124,0.000006573584707212537,0,0,,,21.6,0.690,0.00,0.00,0.145,,,0,41424,0,0,0,15268,0,0,0,3466,0,0,0,5194,0,0,0,10600,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 -17-43094022-CTTTAA-C,17,43094022,rs80357888,CTTTAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502AlafsTer2,p.Leu502AlafsTer2,c.1504_1508del,frameshift_variant,Pathogenic,37417,,9,1461764,0.0000061569446230718505,0,0,sas,0.000015830000000000003,25.6,,0.00,0.0100,0.145,,,0,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,5,1111954,0,0,,,,,4,86244,0,0,0,60390,0,0 -17-43094022-CTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCT-C,17,43094022,rs2154442124,CTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser475AlafsTer2,p.Ser475AlafsTer2,c.1423_1508del,frameshift_variant,Pathogenic,1074343,,1,1461764,6.841049581190945e-7,0,0,,,27.1,,0.00,0.00,0.145,,,1,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,0,1111954,0,0,,,,,0,86244,0,0,0,60390,0,0 -17-43094023-T-C,17,43094023,rs62625304,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503Arg,p.Lys503Arg,c.1508A>G,missense_variant,Conflicting interpretations of pathogenicity,54274,,78,1461738,0.00005336113585334718,0,0,nfe,0.0000551,24.2,0.757,0.00,0.00,1.39,0.0300,0.914,1,33478,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,75,1111940,0,0,,,,,0,86226,0,0,2,60390,0,0 -17-43094024-T-G,17,43094024,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503Gln,p.Lys503Gln,c.1507A>C,missense_variant,,,,1,833084,0.0000012003591474569191,0,0,,,24.4,0.769,0.00,0.0100,2.31,0.0100,0.971,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43094025-T-C,17,43094025,rs786203671,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502Leu,p.Leu502Leu,c.1506A>G,synonymous_variant,Likely benign,187359,,1,628668,0.0000015906647069677476,0,0,,,10.5,,0.00,0.0100,0.522,,,0,17694,0,0,1,43732,0,0,0,20980,0,0,0,36056,0,0,0,53124,0,0,0,4146,0,0,0,350070,0,0,,,,,0,69774,0,0,0,33092,0,0 -17-43094027-A-G,17,43094027,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502Leu,p.Leu502Leu,c.1504T>C,synonymous_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,6.74,,0.00,0.00,-0.153,,,0,33478,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86234,0,0,0,60392,0,0 -17-43094027-AT-A,17,43094027,,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys501AsnfsTer2,p.Lys501AsnfsTer2,c.1503del,frameshift_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,24.2,,0.00,0.00,-0.153,,,0,33478,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,1,53406,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86234,0,0,0,60392,0,0 -17-43094029-T-G,17,43094029,rs113656989,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys501Thr,p.Lys501Thr,c.1502A>C,missense_variant,Conflicting interpretations of pathogenicity,438911,,2,1461786,0.000001368189324565976,0,0,nfe,2.999999999999999e-7,22.7,0.566,0.00,0.00,1.46,0.0900,0.990,0,33478,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5766,0,0,2,1111968,0,0,,,,,0,86246,0,0,0,60388,0,0 -17-43094032-T-C,17,43094032,rs1555591677,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn500Ser,p.Asn500Ser,c.1499A>G,missense_variant,Conflicting interpretations of pathogenicity,489708,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,17.8,0.476,0.00,0.00,0.269,0.140,0.934,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094035-G-A,17,43094035,rs876658285,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Ile,p.Thr499Ile,c.1496C>T,missense_variant,Conflicting interpretations of pathogenicity,229940,,1,833092,0.0000012003476206709464,0,0,,,22.8,0.576,0.00,0.00,2.24,0.0300,0.838,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43094035-G-C,17,43094035,rs876658285,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Arg,p.Thr499Arg,c.1496C>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,20.8,0.582,0.00,0.00,2.24,0.0100,0.887,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43094035-G-T,17,43094035,rs876658285,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Lys,p.Thr499Lys,c.1496C>A,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,21.1,0.550,0.00,0.00,2.24,0.0800,0.897,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43094041-G-A,17,43094041,rs1555591693,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro497Leu,p.Pro497Leu,c.1490C>T,missense_variant,Conflicting interpretations of pathogenicity,479224,,1,151994,0.000006579207073963446,0,0,,,14.2,0.514,0.00,0.00,1.96,0.0700,0.893,0,41382,0,0,0,15242,0,0,0,3468,0,0,0,5184,0,0,0,10590,0,0,0,316,0,0,0,67996,0,0,0,910,0,0,1,4824,0,0,0,2082,0,0 -17-43094042-G-T,17,43094042,rs1555591695,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro497Thr,p.Pro497Thr,c.1489C>A,missense_variant,Conflicting interpretations of pathogenicity,489707,,1,833070,0.0000012003793198650773,0,0,,,13.3,0.500,0.00,0.00,1.02,0.0400,0.934,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761872,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43094044-C-T,17,43094044,rs28897677,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496His,p.Arg496His,c.1487G>A,missense_variant,Benign,41805,,1078,1613824,0.0006679786643401015,1,0,nfe,0.0008149,0.00200,0.550,0.00,0.00,-2.83,1.00,0.00300,16,74870,0,0,5,59976,0,0,0,29602,0,0,0,44876,0,0,14,64004,0,0,0,6082,0,0,1014,1179946,1,0,0,912,0,0,1,91074,0,0,28,62482,0,0 -17-43094044-C-G,17,43094044,rs28897677,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg496Pro,p.Arg496Pro,c.1487G>C,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,0.0320,0.578,0.00,0.00,-2.83,0.220,0.665,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53404,0,0,0,5766,0,0,1,1111926,0,0,,,,,0,86252,0,0,0,60392,0,0 -17-43094045-G-T,17,43094045,rs28897676,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496Ser,p.Arg496Ser,c.1486C>A,missense_variant,Conflicting interpretations of pathogenicity,54267,,5,1613802,0.0000030982735180647937,0,0,afr,0.000025500000000000003,0.753,0.610,0.00,0.00,-0.0930,0.320,0.0780,5,74886,0,0,0,59974,0,0,0,29598,0,0,0,44886,0,0,0,63996,0,0,0,6082,0,0,0,1179912,0,0,0,912,0,0,0,91076,0,0,0,62480,0,0 -17-43094045-G-A,17,43094045,rs28897676,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496Cys,p.Arg496Cys,c.1486C>T,missense_variant,Benign,37416,,477,1613802,0.0002955752936233813,1,0,nfe,0.00031961,2.96,0.570,0.00,0.00,-0.0930,0.420,0.00900,7,74886,0,0,27,59974,0,0,14,29598,0,0,0,44886,0,0,1,63996,0,0,0,6082,0,0,410,1179912,1,0,0,912,0,0,0,91076,0,0,18,62480,0,0 -17-43094047-T-G,17,43094047,rs1567799498,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu495Ala,p.Glu495Ala,c.1484A>C,missense_variant,Conflicting interpretations of pathogenicity,575821,,1,628718,0.000001590538206318254,0,0,,,14.8,0.569,0.00,0.00,0.727,0.110,0.530,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53130,0,0,0,4146,0,0,0,350086,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43094050-T-C,17,43094050,rs2154443717,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln494Arg,p.Gln494Arg,c.1481A>G,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,6.46,0.619,0.00,0.00,-0.386,0.160,0.139,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094051-G-A,17,43094051,rs80357010,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln494Ter,p.Gln494Ter,c.1480C>T,stop_gained,Pathogenic,37415,,1,628712,0.0000015905533853338253,0,0,,,33.0,,0.00,0.00,2.12,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53124,0,0,0,4146,0,0,0,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43094054-T-G,17,43094054,rs2053933371,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile493Leu,p.Ile493Leu,c.1477A>C,missense_variant,Conflicting interpretations of pathogenicity,856541,,1,628716,0.0000015905432659579206,0,0,,,5.73,0.621,0.00,0.00,-0.361,0.140,0.00900,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4146,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43094060-G-A,17,43094060,rs62625303,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln491Ter,p.Gln491Ter,c.1471C>T,stop_gained,Pathogenic,54264,,1,833080,0.0000012003649109329235,0,0,,,29.3,,0.00,0.00,2.31,,,1,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43094061-T-C,17,43094061,rs775032066,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro490Pro,p.Pro490Pro,c.1470A>G,synonymous_variant,Likely benign,184840,,39,780938,0.00004993994401604225,0,0,amr,0.0004969500000000001,5.30,,0.00,0.0100,-0.128,,,0,59164,0,0,39,59006,0,0,0,24452,0,0,0,41254,0,0,0,63748,0,0,0,4462,0,0,0,418122,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 -17-43094064-C-T,17,43094064,rs794726997,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu489Glu,p.Glu489Glu,c.1467G>A,synonymous_variant,Likely benign,193695,,7,833098,0.000008402372830087217,0,0,nfe,0.00000283,0.342,,0.00,0.0100,-1.37,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761894,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43094066-C-T,17,43094066,rs80357167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu489Lys,p.Glu489Lys,c.1465G>A,missense_variant,Conflicting interpretations of pathogenicity,54261,,2,833090,0.0000024007010046933706,0,0,nfe,4.4e-7,18.4,0.671,0.00,0.00,2.43,0.0600,0.893,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094067-A-T,17,43094067,rs1555591722,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr488Thr,p.Thr488Thr,c.1464T>A,synonymous_variant,Likely benign,1602312,,2,1461808,0.0000013681687335135667,0,0,sas,0.00000385,1.36,,0.0100,0.0100,-0.412,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111974,0,0,,,,,2,86252,0,0,0,60394,0,0 -17-43094068-G-C,17,43094068,rs2154444737,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr488Ser,p.Thr488Ser,c.1463C>G,missense_variant,,,,1,833084,0.0000012003591474569191,0,0,,,2.19,0.613,0.00,0.00,-0.0350,0.420,0.0340,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43094071-A-C,17,43094071,rs748812609,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val487Gly,p.Val487Gly,c.1460T>G,missense_variant,Conflicting interpretations of pathogenicity,482955,,16,1461826,0.000010945215093998876,0,0,sas,0.00011548999999999998,8.78,0.638,0.00,0.00,0.0610,0.0400,0.0210,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111990,0,0,,,,,16,86252,0,0,0,60394,0,0 -17-43094072-C-A,17,43094072,rs369588942,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val487Phe,p.Val487Phe,c.1459G>T,missense_variant,Conflicting interpretations of pathogenicity,37414,,32,781020,0.00004097206217510435,0,0,afr,0.00036373000000000015,16.4,0.634,0.00,0.00,0.207,0.00,0.530,30,59262,0,0,2,59028,0,0,0,24452,0,0,0,41240,0,0,0,63732,0,0,0,4442,0,0,0,418120,0,0,0,912,0,0,0,74620,0,0,0,35212,0,0 -17-43094074-A-G,17,43094074,rs774159828,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe486Ser,p.Phe486Ser,c.1457T>C,missense_variant,Conflicting interpretations of pathogenicity,819266,,1,628722,0.0000015905280871354907,0,0,,,3.19,0.591,0.00,0.0100,0.192,0.600,0.00700,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43094075-A-G,17,43094075,rs55906931,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe486Leu,p.Phe486Leu,c.1456T>C,missense_variant,Benign,54258,,562,1614110,0.00034817949210400777,8,0,amr,0.0002888600000000001,0.0100,0.567,0.00,0.00,-0.732,0.800,0.00700,19,75042,0,0,25,60014,0,0,0,29600,0,0,1,44866,0,0,1,64018,0,0,113,6062,6,0,323,1180006,0,0,0,912,0,0,32,91080,2,0,48,62510,0,0 -17-43094075-A-T,17,43094075,rs55906931,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe486Ile,p.Phe486Ile,c.1456T>A,missense_variant,Conflicting interpretations of pathogenicity,182090,,1,1461822,6.840778152196368e-7,0,0,,,0.0290,0.551,0.00,0.00,-0.732,0.400,0.0210,0,33478,0,0,1,44724,0,0,0,26132,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111986,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094077-G-A,17,43094077,rs2154445229,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala485Val,p.Ala485Val,c.1454C>T,missense_variant,Conflicting interpretations of pathogenicity,1773016,,1,152258,0.000006567799393135336,0,0,,,8.68,0.629,0.00,0.00,1.52,,,0,41574,0,0,0,15284,0,0,0,3470,0,0,1,5180,0,0,0,10594,0,0,0,292,0,0,0,68008,0,0,0,912,0,0,0,4830,0,0,0,2114,0,0 -17-43094078-C-T,17,43094078,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala485Thr,p.Ala485Thr,c.1453G>A,missense_variant,Conflicting interpretations of pathogenicity,1974842,,3,833092,0.000003601042862012839,0,0,nfe,0.00000105,4.78,0.617,0.00,0.00,-0.806,0.410,0.401,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094081-C-T,17,43094081,rs80357304,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly484Arg,p.Gly484Arg,c.1450G>A,missense_variant,Conflicting interpretations of pathogenicity,568267,,3,1461804,0.000002052258715942767,0,0,nfe,2.999999999999999e-7,12.1,0.574,0.00,0.00,1.02,0.250,0.893,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,1,53394,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094083-A-G,17,43094083,rs80357489,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile483Thr,p.Ile483Thr,c.1448T>C,missense_variant,Conflicting interpretations of pathogenicity,54255,,15,1613958,0.000009293922146672961,0,0,nfe,0.00000615,9.94,0.605,0.0100,0.0300,-0.107,0.120,0.297,0,74928,0,0,0,59986,0,0,0,29604,0,0,0,44880,0,0,0,64000,0,0,0,6082,0,0,13,1180002,0,0,0,912,0,0,0,91078,0,0,2,62486,0,0 -17-43094085-A-G,17,43094085,rs1597875988,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile482Ile,p.Ile482Ile,c.1446T>C,synonymous_variant,Likely benign,819240,,1,152074,0.000006575746018385786,0,0,,,6.59,,0.00,0.00,-0.735,,,0,41396,0,0,0,15260,0,0,0,3470,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,0,68014,0,0,0,912,0,0,0,4814,0,0,1,2094,0,0 -17-43094085-A-T,17,43094085,rs1597875988,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile482Ile,p.Ile482Ile,c.1446T>A,synonymous_variant,,,,1,833094,0.0000012003447390090433,0,0,,,6.14,,0.00,0.00,-0.735,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43094086-A-G,17,43094086,rs1327980486,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile482Thr,p.Ile482Thr,c.1445T>C,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,10.2,0.578,0.00,0.00,0.567,0.260,0.530,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094089-A-G,17,43094089,rs2053937820,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Pro,p.Leu481Pro,c.1442T>C,missense_variant,Conflicting interpretations of pathogenicity,921100,,1,628702,0.0000015905786843369356,0,0,,,18.1,0.604,0.00,0.00,0.258,0.0800,0.819,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53122,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43094090-G-T,17,43094090,rs1397842308,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Ile,p.Leu481Ile,c.1441C>A,missense_variant,Conflicting interpretations of pathogenicity,856298,,1,1461796,6.840899824599329e-7,0,0,,,21.5,0.580,0.00,0.00,1.72,0.0600,0.893,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43094090-G-C,17,43094090,rs1397842308,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Val,p.Leu481Val,c.1441C>G,missense_variant,Conflicting interpretations of pathogenicity,433698,,1,1461796,6.840899824599329e-7,0,0,,,16.3,0.668,0.00,0.00,1.72,0.130,0.893,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43094095-T-C,17,43094095,rs1597876039,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu479Gly,p.Glu479Gly,c.1436A>G,missense_variant,Conflicting interpretations of pathogenicity,819211,,2,1461812,0.0000013681649897524442,0,0,sas,0.00000385,20.0,0.599,0.00,0.00,3.72,0.0600,0.819,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5768,0,0,0,1111978,0,0,,,,,2,86252,0,0,0,60394,0,0 -17-43094097-A-C,17,43094097,rs876658280,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr478Thr,p.Thr478Thr,c.1434T>G,synonymous_variant,Likely benign,229934,,1,152160,0.000006572029442691903,0,0,,,8.14,,0.00,0.00,0.892,,,0,41444,0,0,0,15268,0,0,0,3472,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43094103-A-G,17,43094103,rs1060504572,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His476His,p.His476His,c.1428T>C,synonymous_variant,Likely benign,415576,,1,833106,0.0000012003274493281767,0,0,,,3.97,,0.00,0.00,-1.22,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094104-T-C,17,43094104,rs55720177,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His476Arg,p.His476Arg,c.1427A>G,missense_variant,Benign/Likely benign,54251,,194,1614134,0.00012018828672216804,0,0,afr,0.0019486999999999994,8.15,0.576,0.00,0.00,-0.0860,0.130,0.759,167,75056,0,0,13,60018,0,0,0,29604,0,0,0,44876,0,0,0,64006,0,0,0,6062,0,0,2,1180010,0,0,0,912,0,0,0,91082,0,0,12,62508,0,0 -17-43094108-T-A,17,43094108,rs1064794047,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser475Cys,p.Ser475Cys,c.1423A>T,missense_variant,Conflicting interpretations of pathogenicity,419692,,4,985296,0.000004059693736704503,0,0,nfe,0.00000113,23.4,0.618,0.00,0.00,3.74,0.00,0.996,0,57238,0,0,0,16254,0,0,0,8624,0,0,0,8834,0,0,0,10898,0,0,0,1936,0,0,4,829918,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 -17-43094111-A-G,17,43094111,rs2154446945,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu474Leu,p.Leu474Leu,c.1420T>C,synonymous_variant,Likely benign,2565354,,1,628700,0.0000015905837442341339,0,0,,,3.74,,0.00,0.00,0.130,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43094112-G-A,17,43094112,rs777228325,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Asn,p.Asn473Asn,c.1419C>T,synonymous_variant,Likely benign,185689,,11,781000,0.000014084507042253522,0,0,afr,0.000054939999999999986,0.623,,0.00,0.00,0.358,,,7,59266,0,0,0,59034,0,0,0,24450,0,0,0,41248,0,0,0,63720,0,0,0,4442,0,0,3,418104,0,0,0,912,0,0,0,74616,0,0,1,35208,0,0 -17-43094113-T-A,17,43094113,rs80357057,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Ile,p.Asn473Ile,c.1418A>T,missense_variant,Benign,54249,,9,1613992,0.0000055762358177735705,0,0,afr,0.00001063,15.5,0.426,0.00,0.00,2.43,0.00,0.971,3,74934,0,0,2,59992,0,0,0,29602,0,0,0,44888,0,0,0,64000,0,0,0,6084,0,0,4,1180010,0,0,0,912,0,0,0,91084,0,0,0,62486,0,0 -17-43094113-T-G,17,43094113,rs80357057,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn473Thr,p.Asn473Thr,c.1418A>C,missense_variant,Conflicting interpretations of pathogenicity,653618,,3,1461810,0.0000020522502924456667,0,0,nfe,7.200000000000001e-7,14.9,0.438,0.00,0.00,2.43,0.00,0.924,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53388,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094113-T-C,17,43094113,rs80357057,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Ser,p.Asn473Ser,c.1418A>G,missense_variant,Benign,54248,,15,1614110,0.000009293046942277787,0,0,sas,0.000028630000000000002,6.34,0.371,0.00,0.00,2.43,0.200,0.641,1,75056,0,0,1,60012,0,0,0,29602,0,0,0,44876,0,0,1,64000,0,0,0,6062,0,0,5,1180002,0,0,0,912,0,0,6,91080,0,0,1,62508,0,0 -17-43094115-G-T,17,43094115,rs752808917,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro472Pro,p.Pro472Pro,c.1416C>A,synonymous_variant,Likely benign,1772130,,1,628678,0.0000015906394052281136,0,0,,,0.856,,0.00,0.00,0.145,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43094115-G-A,17,43094115,rs752808917,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro472Pro,p.Pro472Pro,c.1416C>T,synonymous_variant,Likely benign,427352,,1,628678,0.0000015906394052281136,0,0,,,1.20,,0.00,0.00,0.145,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43094119-A-T,17,43094119,rs1167718207,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu471His,p.Leu471His,c.1412T>A,missense_variant,,,,1,628688,0.0000015906141042933855,0,0,,,5.44,0.524,0.00,0.00,0.995,0.320,0.718,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43094120-G-A,17,43094120,rs1282963652,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu471Phe,p.Leu471Phe,c.1411C>T,missense_variant,Conflicting interpretations of pathogenicity,1522766,,1,628690,0.0000015906090442030254,0,0,,,8.68,0.514,0.00,0.00,1.02,0.180,0.443,0,17694,0,0,0,43740,0,0,0,20978,0,0,1,36056,0,0,0,53106,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 -17-43094122-C-T,17,43094122,rs1567799713,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser470Asn,p.Ser470Asn,c.1409G>A,missense_variant,Conflicting interpretations of pathogenicity,627698,,4,1461786,0.000002736378649131952,0,0,afr,0.000039819999999999975,11.7,0.434,0.00,0.00,2.54,0.0300,0.163,4,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86248,0,0,0,60394,0,0 -17-43094123-T-C,17,43094123,rs2053942184,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser470Gly,p.Ser470Gly,c.1408A>G,missense_variant,Conflicting interpretations of pathogenicity,846197,,1,628686,0.0000015906191644159405,0,0,,,11.6,0.538,0.00,0.00,0.737,0.140,0.163,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53104,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69788,0,0,0,33096,0,0 -17-43094126-C-T,17,43094126,rs397507187,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala469Thr,p.Ala469Thr,c.1405G>A,missense_variant,Conflicting interpretations of pathogenicity,37411,,3,628666,0.0000047720093022368,0,0,,,2.44,0.642,0.00,0.00,0.0490,0.230,0.255,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36056,0,0,0,53090,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69790,0,0,2,33094,0,0 -17-43094127-C-T,17,43094127,rs1555591782,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys468Lys,p.Lys468Lys,c.1404G>A,synonymous_variant,Likely benign,479228,,1,833110,0.0000012003216862119048,0,0,,,5.88,,0.00,0.00,4.16,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094130-C-T,17,43094130,rs786201323,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys467Lys,p.Lys467Lys,c.1401G>A,synonymous_variant,Likely benign,184191,,29,1613982,0.000017967982294722,0,0,nfe,0.00001567,8.27,,0.00,0.0100,3.35,,,0,74938,0,0,2,59992,0,0,0,29602,0,0,0,44892,0,0,0,63996,0,0,0,6084,0,0,27,1180012,0,0,0,912,0,0,0,91072,0,0,0,62482,0,0 -17-43094132-T-G,17,43094132,rs80357279,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys467Gln,p.Lys467Gln,c.1399A>C,missense_variant,,,,1,628670,0.0000015906596465554266,0,0,,,22.8,0.485,0.00,0.00,3.78,0.00,0.201,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69788,0,0,1,33092,0,0 -17-43094134-C-T,17,43094134,rs199540030,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg466Gln,p.Arg466Gln,c.1397G>A,missense_variant,Conflicting interpretations of pathogenicity,91552,,15,1613972,0.000009293841528849323,0,0,amr,0.000054339999999999985,13.1,0.546,0.00,0.00,0.400,0.290,0.472,0,74996,0,0,7,60000,0,0,0,29596,0,0,0,44874,0,0,0,63980,0,0,1,6062,0,0,6,1179990,0,0,0,912,0,0,0,91060,0,0,1,62502,0,0 -17-43094135-G-C,17,43094135,rs80356964,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg466Gly,p.Arg466Gly,c.1396C>G,missense_variant,Conflicting interpretations of pathogenicity,54240,,3,1461768,0.0000020523092583775265,0,0,,,17.4,0.478,0.00,0.0100,1.28,0.0700,0.667,0,33474,0,0,0,44722,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,3,5768,0,0,0,1111976,0,0,,,,,0,86244,0,0,0,60388,0,0 -17-43094135-G-A,17,43094135,rs80356964,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg466Trp,p.Arg466Trp,c.1396C>T,missense_variant,Conflicting interpretations of pathogenicity,37410,,15,1613874,0.000009294405882987147,0,0,nfe,0.00000615,22.7,0.474,0.00,0.0100,1.28,0.00,0.999,0,74896,0,0,1,59982,0,0,0,29596,0,0,1,44882,0,0,0,63966,0,0,0,6084,0,0,13,1180002,0,0,0,912,0,0,0,91074,0,0,0,62480,0,0 -17-43094139-G-A,17,43094139,rs533802049,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr464Thr,p.Thr464Thr,c.1392C>T,synonymous_variant,Benign,136541,,45,1613974,0.000027881490036394637,0,0,eas,0.0006728700000000001,6.39,,0.00,0.00,0.676,,,0,75006,0,0,1,59986,0,0,0,29600,0,0,40,44872,0,0,0,63978,0,0,0,6062,0,0,1,1179988,0,0,0,912,0,0,0,91074,0,0,3,62496,0,0 -17-43094140-G-A,17,43094140,rs62625301,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr464Ile,p.Thr464Ile,c.1391C>T,missense_variant,Conflicting interpretations of pathogenicity,54237,,6,1461734,0.000004104713990370341,0,0,nfe,0.00000194,25.2,0.867,0.00,0.00,7.02,0.00,0.995,0,33460,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5768,0,0,6,1111972,0,0,,,,,0,86246,0,0,0,60388,0,0 -17-43094142-T-C,17,43094142,rs2154449126,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys463Lys,p.Lys463Lys,c.1389A>G,synonymous_variant,Likely benign,1630481,,1,628642,0.0000015907304952580323,0,0,,,10.2,,0.00,0.00,1.06,,,0,17674,0,0,0,43730,0,0,0,20976,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69786,0,0,0,33090,0,0 -17-43094145-C-T,17,43094145,rs876659749,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly462Gly,p.Gly462Gly,c.1386G>A,synonymous_variant,Likely benign,232413,,7,780814,0.000008965003188979706,0,0,afr,0.00001347,10.1,,0.00,0.00,1.39,,,3,59124,0,0,1,59004,0,0,0,24448,0,0,0,41254,0,0,0,63710,0,0,0,4464,0,0,3,418104,0,0,0,912,0,0,0,74616,0,0,0,35178,0,0 -17-43094147-C-T,17,43094147,rs80357221,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly462Arg,p.Gly462Arg,c.1384G>A,missense_variant,Conflicting interpretations of pathogenicity,54230,,22,1613866,0.000013631862868416585,0,0,nfe,0.0000103,24.6,0.899,0.00,0.00,5.96,0.0200,0.998,1,74884,0,0,0,59976,0,0,0,29600,0,0,0,44886,0,0,0,63982,0,0,0,6084,0,0,19,1180002,0,0,0,912,0,0,0,91062,0,0,2,62478,0,0 -17-43094148-A-T,17,43094148,rs56046357,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe461Leu,p.Phe461Leu,c.1383T>A,missense_variant,Benign,54228,,7,985308,0.000007104377514442185,0,0,nfe,0.0000035100000000000003,24.0,0.846,0.00,0.00,0.454,0.00,1.00,0,57248,0,0,0,16258,0,0,0,8624,0,0,0,8832,0,0,0,10880,0,0,0,1936,0,0,7,829936,0,0,0,912,0,0,0,21294,0,0,0,29388,0,0 -17-43094150-A-G,17,43094150,rs62625300,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe461Leu,p.Phe461Leu,c.1381T>C,missense_variant,Conflicting interpretations of pathogenicity,54227,,10,1613934,0.0000061960402346068674,0,0,nfe,0.0000035900000000000004,26.6,0.936,0.00,0.00,6.33,0.00,1.00,0,74900,0,0,0,59974,0,0,0,29600,0,0,0,44892,0,0,0,64000,0,0,0,6084,0,0,9,1180012,0,0,0,912,0,0,1,91082,0,0,0,62478,0,0 -17-43094151-T-C,17,43094151,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile460Met,p.Ile460Met,c.1380A>G,missense_variant,,,,1,628626,0.000001590770983064652,0,0,,,23.5,0.855,0.00,0.00,2.21,0.00,0.999,0,17672,0,0,0,43728,0,0,0,20976,0,0,1,36056,0,0,0,53110,0,0,0,4148,0,0,0,350070,0,0,,,,,0,69780,0,0,0,33086,0,0 -17-43094152-A-G,17,43094152,rs398122634,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile460Thr,p.Ile460Thr,c.1379T>C,missense_variant,Conflicting interpretations of pathogenicity,843219,,1,628626,0.000001590770983064652,0,0,,,25.4,0.918,0.00,0.00,6.33,0.00,0.998,0,17672,0,0,0,43728,0,0,0,20978,0,0,0,36056,0,0,0,53106,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69780,0,0,1,33086,0,0 -17-43094155-T-G,17,43094155,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys459Thr,p.Lys459Thr,c.1376A>C,missense_variant,,,,1,1461734,6.841189983950568e-7,0,0,,,24.6,0.676,0.00,0.00,2.35,0.00,0.990,0,33458,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86244,0,0,0,60386,0,0 -17-43094155-T-A,17,43094155,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys459Ile,p.Lys459Ile,c.1376A>T,missense_variant,,,,1,1461734,6.841189983950568e-7,0,0,,,25.0,0.615,0.00,0.00,2.35,0.00,0.973,0,33458,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,0,1111968,0,0,,,,,1,86244,0,0,0,60386,0,0 -17-43094157-G-T,17,43094157,rs879253999,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp458Glu,p.Asp458Glu,c.1374C>A,missense_variant,Conflicting interpretations of pathogenicity,245916,,1,1461714,6.841283588992101e-7,0,0,,,21.7,0.694,0.00,0.00,0.516,0.00,0.980,0,33458,0,0,0,44708,0,0,0,26130,0,0,0,39686,0,0,0,53374,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86238,0,0,0,60386,0,0 -17-43094157-G-A,17,43094157,rs879253999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp458Asp,p.Asp458Asp,c.1374C>T,synonymous_variant,Likely benign,427249,,2,1461714,0.0000013682567177984201,0,0,,,5.45,,0.00,0.00,0.516,,,0,33458,0,0,0,44708,0,0,0,26130,0,0,1,39686,0,0,0,53374,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86238,0,0,0,60386,0,0 -17-43094164-A-G,17,43094164,rs80357360,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile456Thr,p.Ile456Thr,c.1367T>C,missense_variant,Conflicting interpretations of pathogenicity,54222,,5,1614086,0.000003097728373828904,0,0,nfe,6.800000000000001e-7,21.4,0.613,0.00,0.00,2.33,0.0200,0.919,1,75050,0,0,0,60018,0,0,0,29596,0,0,0,44878,0,0,0,63994,0,0,0,6062,0,0,3,1180004,0,0,0,912,0,0,0,91072,0,0,1,62500,0,0 -17-43094168-T-A,17,43094168,rs1468740591,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn455Tyr,p.Asn455Tyr,c.1363A>T,missense_variant,,,,1,152226,0.000006569180034948038,0,0,,,15.1,0.525,0.00,0.00,1.85,,,0,41466,0,0,0,15272,0,0,0,3472,0,0,0,5206,0,0,0,10614,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43094169-ACT-A,17,43094169,rs80357969,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser454Ter,p.Ser454Ter,c.1360_1361del,frameshift_variant,Pathogenic,37406,,3,628660,0.000004772054846817039,0,0,nfe,0.00000228,14.8,,0.00,0.0100,0.311,,,0,17686,0,0,0,43740,0,0,0,20978,0,0,0,36056,0,0,0,53094,0,0,0,4148,0,0,3,350076,0,0,,,,,0,69790,0,0,0,33092,0,0 -17-43094170-C-T,17,43094170,rs80357181,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser454Asn,p.Ser454Asn,c.1361G>A,missense_variant,Conflicting interpretations of pathogenicity,54220,,3,152194,0.000019711683772027807,0,0,afr,0.00001919,0.188,0.528,0.00,0.00,0.0570,0.700,0.0600,3,41456,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43094173-T-C,17,43094173,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu453Gly,p.Glu453Gly,c.1358A>G,missense_variant,,,,1,628636,0.000001590745677943993,0,0,,,14.1,0.444,0.00,0.00,0.479,0.0400,0.617,0,17680,0,0,0,43736,0,0,0,20976,0,0,0,36056,0,0,0,53086,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69782,0,0,0,33090,0,0 -17-43094174-C-G,17,43094174,rs768054411,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu453Gln,p.Glu453Gln,c.1357G>C,missense_variant,Conflicting interpretations of pathogenicity,423223,,7,1613946,0.000004337195916096325,0,0,afr,0.000017460000000000002,15.8,0.576,0.00,0.00,1.20,0.0300,0.930,4,74924,0,0,0,59996,0,0,0,29596,0,0,2,44890,0,0,0,63970,0,0,0,6084,0,0,1,1180028,0,0,0,912,0,0,0,91068,0,0,0,62478,0,0 -17-43094174-CT-C,17,43094174,rs80357939,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu453ArgfsTer22,p.Glu453ArgfsTer22,c.1356del,frameshift_variant,Pathogenic,125495,,1,1461752,6.841105741603227e-7,0,0,,,16.7,,0.00,0.00,1.20,,,0,33472,0,0,0,44724,0,0,0,26126,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86244,0,0,0,60388,0,0 -17-43094177-C-T,17,43094177,rs2154455068,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val452Ile,p.Val452Ile,c.1354G>A,missense_variant,Conflicting interpretations of pathogenicity,1410648,,1,628646,0.0000015907203736284014,0,0,,,10.5,0.557,0.00,0.00,0.442,0.150,0.491,0,17688,0,0,0,43738,0,0,0,20978,0,0,0,36056,0,0,0,53074,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33090,0,0 -17-43094178-T-C,17,43094178,rs1178888270,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser451Ser,p.Ser451Ser,c.1353A>G,synonymous_variant,Likely benign,506497,,6,1461744,0.00000410468590943421,0,0,nfe,0.00000194,4.95,,0.00,0.00,0.165,,,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,6,1111974,0,0,,,,,0,86244,0,0,0,60388,0,0 -17-43094179-G-A,17,43094179,rs80356891,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser451Leu,p.Ser451Leu,c.1352C>T,missense_variant,,,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,20.1,0.474,0.00,0.00,1.62,0.0200,0.0380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43094182-T-C,17,43094182,rs778668550,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys450Arg,p.Lys450Arg,c.1349A>G,missense_variant,Conflicting interpretations of pathogenicity,1471719,,4,628658,0.000006362760038049305,0,0,nfe,0.0000036699999999999996,14.1,0.538,0.00,0.00,1.44,0.100,0.443,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36056,0,0,0,53082,0,0,0,4148,0,0,4,350086,0,0,,,,,0,69786,0,0,0,33092,0,0 -17-43094189-G-A,17,43094189,rs786203578,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His448Tyr,p.His448Tyr,c.1342C>T,missense_variant,Conflicting interpretations of pathogenicity,187241,,6,780802,0.00000768440654608979,0,0,afr,0.000032689999999999994,3.11,0.561,0.00,0.00,0.567,1.00,0.0600,5,59126,0,0,0,59002,0,0,0,24452,0,0,0,41258,0,0,0,63668,0,0,0,4464,0,0,0,418126,0,0,0,910,0,0,0,74612,0,0,1,35184,0,0 -17-43094191-A-G,17,43094191,rs2154457435,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val447Ala,p.Val447Ala,c.1340T>C,missense_variant,Conflicting interpretations of pathogenicity,1410408,,1,628668,0.0000015906647069677476,0,0,,,4.88,0.573,0.00,0.00,0.130,0.820,0.643,0,17694,0,0,0,43736,0,0,0,20980,0,0,1,36056,0,0,0,53076,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43094192-C-T,17,43094192,rs587782784,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val447Ile,p.Val447Ile,c.1339G>A,missense_variant,Conflicting interpretations of pathogenicity,142873,,1,833094,0.0000012003447390090433,0,0,,,5.26,0.574,0.00,0.00,0.218,0.360,0.304,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761888,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094195-T-C,17,43094195,rs587781715,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg446Gly,p.Arg446Gly,c.1336A>G,missense_variant,Conflicting interpretations of pathogenicity,141392,,3,780882,0.000003841809646015659,0,0,afr,0.00001346,19.6,0.530,0.00,0.00,2.31,0.0500,0.737,3,59142,0,0,0,59012,0,0,0,24452,0,0,0,41260,0,0,0,63700,0,0,0,4464,0,0,0,418134,0,0,0,912,0,0,0,74622,0,0,0,35184,0,0 -17-43094198-C-G,17,43094198,rs80356915,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu445Gln,p.Glu445Gln,c.1333G>C,missense_variant,Conflicting interpretations of pathogenicity,54203,,19,780828,0.00002433314379095012,0,0,sas,0.00004388999999999999,20.6,0.526,0.00,0.00,1.22,0.0100,0.989,0,59120,0,0,1,59012,0,0,0,24452,0,0,0,41252,0,0,0,63684,0,0,0,4464,0,0,9,418128,0,0,0,912,0,0,7,74620,0,0,2,35184,0,0 -17-43094202-T-C,17,43094202,rs771892131,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys443Lys,p.Lys443Lys,c.1329A>G,synonymous_variant,Likely benign,427305,,11,628670,0.000017497256112109692,0,0,,,8.33,,0.00,0.00,0.733,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,10,53076,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43094205-A-T,17,43094205,rs397508854,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys442Ter,p.Cys442Ter,c.1326T>A,stop_gained,Pathogenic,54202,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,33.0,,0.00,0.00,-0.100,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094206-C-T,17,43094206,rs1285425507,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys442Tyr,p.Cys442Tyr,c.1325G>A,missense_variant,,,,1,152160,0.000006572029442691903,0,0,,,9.06,0.517,0.00,0.00,-0.415,,,1,41436,0,0,0,15264,0,0,0,3470,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43094209-A-G,17,43094209,rs1163497041,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile441Thr,p.Ile441Thr,c.1322T>C,missense_variant,Conflicting interpretations of pathogenicity,818924,,1,628670,0.0000015906596465554266,0,0,,,4.54,0.595,0.00,0.00,0.251,0.450,0.444,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53074,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094210-T-C,17,43094210,rs1567800029,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile441Val,p.Ile441Val,c.1321A>G,missense_variant,Conflicting interpretations of pathogenicity,628756,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,0.505,0.626,0.00,0.00,-0.573,0.370,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094213-A-T,17,43094213,rs2154459050,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu440Ile,p.Leu440Ile,c.1318T>A,missense_variant,,,,1,628690,0.0000015906090442030254,0,0,,,4.18,0.600,0.00,0.00,-0.401,0.0600,0.893,0,17694,0,0,0,43740,0,0,1,20980,0,0,0,36058,0,0,0,53090,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094213-A-G,17,43094213,rs2154459050,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu440Leu,p.Leu440Leu,c.1318T>C,synonymous_variant,,,,1,628690,0.0000015906090442030254,0,0,,,1.89,,0.00,0.00,-0.401,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53090,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094214-A-G,17,43094214,rs1555591949,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Ala,p.Ala439Ala,c.1317T>C,synonymous_variant,Likely benign,462557,,2,1461796,0.0000013681799649198658,0,0,nfe,2.999999999999999e-7,7.17,,0.00,0.00,0.992,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53366,0,0,0,5768,0,0,2,1111994,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43094215-G-C,17,43094215,rs777132211,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Gly,p.Ala439Gly,c.1316C>G,missense_variant,Conflicting interpretations of pathogenicity,862887,,3,628678,0.0000047719182156843405,0,0,eas,0.00002205,15.3,0.457,0.00,0.00,0.365,0.0200,0.0630,0,17694,0,0,0,43740,0,0,0,20980,0,0,3,36058,0,0,0,53076,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094216-C-A,17,43094216,rs1064794098,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Ser,p.Ala439Ser,c.1315G>T,missense_variant,Conflicting interpretations of pathogenicity,419772,,1,628682,0.0000015906292847576358,0,0,,,0.0200,0.554,0.00,0.00,-0.227,0.0500,0.176,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53080,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094216-C-T,17,43094216,rs1064794098,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala439Thr,p.Ala439Thr,c.1315G>A,missense_variant,Conflicting interpretations of pathogenicity,818886,,1,152136,0.000006573066203922806,0,0,,,0.0290,0.551,0.00,0.00,-0.227,0.230,0.0440,0,41414,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68036,0,0,0,910,0,0,0,4824,0,0,0,2092,0,0 -17-43094221-T-C,17,43094221,rs80357255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His437Arg,p.His437Arg,c.1310A>G,missense_variant,Conflicting interpretations of pathogenicity,633088,,4,1461824,0.000002736307517184011,0,0,nfe,2.999999999999999e-7,12.5,0.542,0.00,0.00,-2.02,0.0400,0.196,0,33480,0,0,1,44724,0,0,0,26132,0,0,1,39690,0,0,0,53382,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094222-G-A,17,43094222,rs759878392,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His437Tyr,p.His437Tyr,c.1309C>T,missense_variant,Conflicting interpretations of pathogenicity,491029,,8,1461804,0.000005472689909180711,0,0,nfe,0.0000031,10.0,0.536,0.00,0.00,1.46,0.0800,0.285,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53372,0,0,0,5768,0,0,8,1111994,0,0,,,,,0,86250,0,0,0,60394,0,0 -17-43094223-A-G,17,43094223,rs770279083,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro436Pro,p.Pro436Pro,c.1308T>C,synonymous_variant,Likely benign,186850,,5,1614012,0.000003097870399972243,0,0,nfe,0.0000012399999999999998,7.74,,0.00,0.00,-0.00200,,,0,74920,0,0,0,59994,0,0,0,29600,0,0,0,44890,0,0,0,63996,0,0,0,6084,0,0,5,1180044,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 -17-43094223-A-C,17,43094223,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro436Pro,p.Pro436Pro,c.1308T>G,synonymous_variant,,,,1,1461818,6.84079687074588e-7,0,0,,,7.38,,0.00,0.00,-0.00200,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53376,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094225-G-A,17,43094225,rs1198367014,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro436Ser,p.Pro436Ser,c.1306C>T,missense_variant,,,,1,628696,0.0000015905938641251098,0,0,,,11.7,0.518,0.00,0.00,1.18,0.110,0.612,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53096,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094226-ATCACTGGCCAGT-A,17,43094226,rs1263295759,ATCACTGGCCAGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu431_Asp435delinsPhe,p.Leu431_Asp435delinsPhe,c.1293_1304del,inframe_deletion,,,,1,628704,0.0000015905736244719296,0,0,,,16.1,,0.00,0.00,-0.832,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53098,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094230-C-T,17,43094230,rs1485510803,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser434Asn,p.Ser434Asn,c.1301G>A,missense_variant,Conflicting interpretations of pathogenicity,924513,,1,152206,0.000006570043230884459,0,0,,,3.11,0.547,0.00,0.00,0.726,0.450,0.196,0,41456,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43094231-T-TGG,17,43094231,,T,TGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434ProfsTer8,p.Ser434ProfsTer8,c.1298_1299dup,frameshift_variant,,,,1,1461802,6.840871745968332e-7,0,0,,,25.5,,0.00,0.00,-0.225,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094231-T-G,17,43094231,rs786203753,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434Arg,p.Ser434Arg,c.1300A>C,missense_variant,Conflicting interpretations of pathogenicity,837806,,1,1461802,6.840871745968332e-7,0,0,,,17.5,0.576,0.00,0.00,-0.225,0.0400,0.196,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39690,0,0,0,53366,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094231-T-A,17,43094231,rs786203753,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434Cys,p.Ser434Cys,c.1300A>T,missense_variant,Conflicting interpretations of pathogenicity,2108999,,2,1461802,0.0000013681743491936664,0,0,,,17.6,0.555,0.00,0.00,-0.225,0.0100,0.315,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43094236-A-G,17,43094236,rs369394098,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu432Pro,p.Leu432Pro,c.1295T>C,missense_variant,Conflicting interpretations of pathogenicity,156183,,2,1461818,0.000001368159374149176,0,0,eas,0.00000835,21.1,0.605,0.00,0.00,0.136,0.0300,0.139,0,33480,0,0,0,44724,0,0,0,26132,0,0,2,39690,0,0,0,53378,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094237-G-A,17,43094237,rs864622454,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu432Leu,p.Leu432Leu,c.1294C>T,synonymous_variant,Likely benign,220280,,1,152184,0.000006570993008463439,0,0,,,4.79,,0.00,0.00,-0.409,,,0,41452,0,0,0,15268,0,0,0,3468,0,0,0,5200,0,0,0,10610,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43094238-T-TA,17,43094238,rs80357528,T,TA,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu431PhefsTer5,p.Leu431PhefsTer5,c.1292dup,frameshift_variant,Pathogenic,54188,,1,152198,0.000006570388572780194,0,0,,,23.3,,0.00,0.0100,0.215,,,0,41450,0,0,0,15278,0,0,0,3468,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43094243-C-CT,17,43094243,rs80357576,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp430ArgfsTer6,p.Asp430ArgfsTer6,c.1287dup,frameshift_variant,Pathogenic,54186,,2,780892,0.000002561173632205222,0,0,,,23.5,,0.00,0.0100,1.20,,,0,59150,0,0,0,59010,0,0,0,24452,0,0,0,41258,0,0,0,63706,0,0,0,4464,0,0,2,418134,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 -17-43094245-AT-A,17,43094245,rs1567800172,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Ter,p.Ile429Ter,c.1285del,frameshift_variant,Pathogenic,579869,,1,1461814,6.84081558939783e-7,0,0,,,24.1,,0.00,0.0100,-0.343,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39690,0,0,0,53376,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094245-A-G,17,43094245,rs775869160,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Thr,p.Ile429Thr,c.1286T>C,missense_variant,Conflicting interpretations of pathogenicity,187435,,8,1461814,0.000005472652471518264,0,0,afr,0.00000989,10.6,0.600,0.00,0.00,-0.343,0.620,0.656,2,33480,0,0,0,44722,0,0,0,26132,0,0,1,39690,0,0,0,53376,0,0,0,5768,0,0,4,1111998,0,0,,,,,1,86254,0,0,0,60394,0,0 -17-43094246-T-C,17,43094246,rs2154461561,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Val,p.Ile429Val,c.1285A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,15.9,0.648,0.00,0.00,-0.0860,0.130,0.530,0,15786,0,0,0,982,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094253-T-G,17,43094253,rs1442003131,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser426Ser,p.Ser426Ser,c.1278A>C,synonymous_variant,Likely benign,481457,,1,833110,0.0000012003216862119048,0,0,,,9.43,,0.00,0.00,0.436,,,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094254-GA-G,17,43094254,rs80357766,GA,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser426GlnfsTer4,p.Ser426GlnfsTer4,c.1276del,frameshift_variant,Pathogenic,54184,,1,152094,0.000006574881323392112,0,0,,,23.5,,0.00,0.0100,4.81,,,1,41424,0,0,0,15258,0,0,0,3468,0,0,0,5194,0,0,0,10588,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4828,0,0,0,2086,0,0 -17-43094256-A-T,17,43094256,rs786201160,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser425Ser,p.Ser425Ser,c.1275T>A,synonymous_variant,Likely benign,183924,,16,1614046,0.000009912976457920034,0,0,nfe,0.00000803,9.49,,0.00,0.00,2.25,,,0,74936,0,0,0,59994,0,0,0,29602,0,0,0,44890,0,0,0,64008,0,0,0,6084,0,0,16,1180046,0,0,0,912,0,0,0,91088,0,0,0,62486,0,0 -17-43094257-G-A,17,43094257,rs1260879887,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser425Phe,p.Ser425Phe,c.1274C>T,missense_variant,,,,1,628716,0.0000015905432659579206,0,0,,,22.9,0.555,0.00,0.0100,3.45,0.0500,0.893,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36060,0,0,0,53110,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094258-A-G,17,43094258,rs1328261486,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser425Pro,p.Ser425Pro,c.1273T>C,missense_variant,Conflicting interpretations of pathogenicity,1721552,,1,152222,0.000006569352655989279,0,0,,,23.1,0.591,0.00,0.00,2.32,,,0,41460,0,0,0,15278,0,0,0,3470,0,0,1,5200,0,0,0,10614,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43094261-C-G,17,43094261,rs763051683,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly424Arg,p.Gly424Arg,c.1270G>C,missense_variant,Conflicting interpretations of pathogenicity,418958,,1,1461820,6.840787511458319e-7,0,0,,,13.4,0.512,0.00,0.00,0.520,0.0300,0.411,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53382,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094261-C-T,17,43094261,rs763051683,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly424Ser,p.Gly424Ser,c.1270G>A,missense_variant,Conflicting interpretations of pathogenicity,630131,,2,1461820,0.0000013681575022916638,0,0,sas,0.00000385,1.50,0.558,0.00,0.00,0.520,0.910,0.0520,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53382,0,0,0,5768,0,0,0,1112000,0,0,,,,,2,86252,0,0,0,60394,0,0 -17-43094263-G-C,17,43094263,rs2154463118,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser423Cys,p.Ser423Cys,c.1268C>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,22.1,0.568,0.00,0.00,1.42,0.0200,0.630,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094267-A-G,17,43094267,rs764186025,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr422His,p.Tyr422His,c.1264T>C,missense_variant,Conflicting interpretations of pathogenicity,441286,,1,152154,0.000006572288602337106,0,0,,,9.95,0.482,0.00,0.00,-0.457,0.390,0.111,1,41442,0,0,0,15268,0,0,0,3466,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43094268-T-G,17,43094268,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu421Asp,p.Glu421Asp,c.1263A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.56,0.640,0.00,0.00,-0.343,0.110,0.266,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094272-T-C,17,43094272,rs730881442,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp420Gly,p.Asp420Gly,c.1259A>G,missense_variant,Conflicting interpretations of pathogenicity,182076,,23,1614088,0.000014249532863140052,0,0,nfe,0.00001298,9.08,0.586,0.0200,0.210,-0.422,0.0800,0.104,0,74952,0,0,0,60006,0,0,0,29604,0,0,0,44896,0,0,0,64010,0,0,0,6084,0,0,23,1180050,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 -17-43094273-C-A,17,43094273,rs80357488,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp420Tyr,p.Asp420Tyr,c.1258G>T,missense_variant,Conflicting interpretations of pathogenicity,54178,,20,1614062,0.00001239109773973986,0,0,amr,0.00001327,18.1,0.474,0.00,0.0100,0.773,0.00,0.951,0,74942,0,0,3,59996,0,0,0,29604,0,0,0,44892,0,0,0,64016,0,0,0,6084,0,0,14,1180042,0,0,0,912,0,0,0,91088,0,0,3,62486,0,0 -17-43094274-T-A,17,43094274,rs751690840,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Val,p.Val419Val,c.1257A>T,synonymous_variant,Likely benign,383475,,2,628730,0.000003181015698312471,0,0,amr,0.000007580000000000001,4.28,,0.00,0.00,0.851,,,0,17692,0,0,2,43740,0,0,0,20982,0,0,0,36060,0,0,0,53120,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094274-T-C,17,43094274,rs751690840,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Val,p.Val419Val,c.1257A>G,synonymous_variant,Likely benign,482888,,1,628730,0.0000015905078491562355,0,0,,,4.84,,0.00,0.00,0.851,,,1,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53120,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094275-A-C,17,43094275,rs398122628,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Gly,p.Val419Gly,c.1256T>G,missense_variant,Conflicting interpretations of pathogenicity,91542,,2,628730,0.000003181015698312471,0,0,nfe,9.5e-7,7.24,0.575,0.00,0.00,-1.24,0.0400,0.380,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53116,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094275-A-G,17,43094275,rs398122628,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Ala,p.Val419Ala,c.1256T>C,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,4.75,0.617,0.00,0.00,-1.24,0.220,0.380,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53116,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094276-C-G,17,43094276,rs876658873,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Leu,p.Val419Leu,c.1255G>C,missense_variant,Conflicting interpretations of pathogenicity,230967,,2,1461828,0.0000013681500149128352,0,0,,,7.70,0.565,0.00,0.00,1.03,0.170,0.649,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39690,0,0,0,53394,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43094277-C-T,17,43094277,rs786201948,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu418Glu,p.Glu418Glu,c.1254G>A,synonymous_variant,Likely benign,185128,,1,628734,0.0000015904977303597388,0,0,,,0.443,,0.00,0.00,0.597,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094278-T-G,17,43094278,rs1555592050,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu418Ala,p.Glu418Ala,c.1253A>C,missense_variant,Conflicting interpretations of pathogenicity,481489,,14,833108,0.000016804543948683724,0,0,nfe,0.00001066,12.1,0.498,0.00,0.00,1.53,0.0900,0.812,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,14,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094280-A-G,17,43094280,rs80357197,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Asn,p.Asn417Asn,c.1251T>C,synonymous_variant,Likely benign,512577,,3,628740,0.0000047714476572192,0,0,eas,0.00002205,0.716,,0.00,0.00,-0.619,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,3,36060,0,0,0,53126,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094280-A-C,17,43094280,rs80357197,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Lys,p.Asn417Lys,c.1251T>G,missense_variant,Conflicting interpretations of pathogenicity,54175,,1,628740,0.0000015904825524064001,0,0,,,0.845,0.444,0.00,0.00,-0.619,0.310,0.444,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53126,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094281-T-C,17,43094281,rs80357113,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Ser,p.Asn417Ser,c.1250A>G,missense_variant,Conflicting interpretations of pathogenicity,54174,,28,1461842,0.000019153916770759084,0,0,nfe,0.000014599999999999999,4.07,0.322,0.00,0.0100,0.721,0.370,0.348,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,1,53404,0,0,2,5768,0,0,24,1111996,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43094283-T-C,17,43094283,rs1057522369,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu416Leu,p.Leu416Leu,c.1248A>G,synonymous_variant,Conflicting interpretations of pathogenicity,385932,,1,833108,0.0000012003245677631232,0,0,,,4.36,,0.00,0.00,-0.0450,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094287-A-G,17,43094287,rs1064796031,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val415Ala,p.Val415Ala,c.1244T>C,missense_variant,Conflicting interpretations of pathogenicity,422833,,1,628740,0.0000015904825524064001,0,0,,,8.62,0.539,0.00,0.00,1.79,0.290,0.491,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094288-C-T,17,43094288,rs587782770,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val415Ile,p.Val415Ile,c.1243G>A,missense_variant,Conflicting interpretations of pathogenicity,142855,,41,1614036,0.000025402159555301122,0,0,amr,0.00010202999999999998,2.00,0.628,0.00,0.00,0.0450,0.250,0.477,0,74926,0,0,11,59996,0,0,0,29602,0,0,4,44890,0,0,22,64018,0,0,0,6084,0,0,2,1180040,0,0,0,912,0,0,1,91084,0,0,1,62484,0,0 -17-43094289-G-A,17,43094289,rs372400428,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp414Asp,p.Asp414Asp,c.1242C>T,synonymous_variant,Likely benign,184215,,30,1614034,0.00001858696904774001,0,0,amr,0.00007732999999999998,1.87,,0.00,0.00,0.291,,,1,75016,0,0,9,59988,0,0,0,29604,0,0,0,44876,0,0,0,63984,0,0,0,6062,0,0,15,1180012,0,0,0,910,0,0,5,91076,0,0,0,62506,0,0 -17-43094290-T-A,17,43094290,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp414Val,p.Asp414Val,c.1241A>T,missense_variant,,,,5,1461852,0.0000034203188831701157,0,0,nfe,0.0000013199999999999999,19.0,0.486,0.00,0.0100,0.717,0.00,0.266,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,5,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094294-A-G,17,43094294,rs574008372,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu413Leu,p.Leu413Leu,c.1237T>C,synonymous_variant,Likely benign,187539,,10,1614148,0.000006195218777955924,0,0,afr,0.00006224999999999998,1.49,,0.00,0.00,-0.448,,,9,75042,0,0,0,60014,0,0,0,29604,0,0,0,44886,0,0,0,64008,0,0,0,6062,0,0,0,1180032,0,0,0,912,0,0,1,91078,0,0,0,62510,0,0 -17-43094294-A-C,17,43094294,rs574008372,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu413Val,p.Leu413Val,c.1237T>G,missense_variant,Likely benign,479198,,3,1461850,0.000002052194137565414,0,0,nfe,7.200000000000001e-7,1.51,0.602,0.00,0.00,-0.448,0.440,0.0440,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,3,1112004,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094297-CAT-C,17,43094297,rs397508848,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411GlyfsTer7,p.Asp411GlyfsTer7,c.1232_1233del,frameshift_variant,Pathogenic,54169,,1,1461848,6.840656484121468e-7,0,0,,,15.0,,0.00,0.0100,1.68,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43094297-C-G,17,43094297,rs587776478,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val412Leu,p.Val412Leu,c.1234G>C,missense_variant,,,,1,1461848,6.840656484121468e-7,0,0,,,10.3,0.588,0.00,0.00,1.68,0.0200,0.232,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43094297-C-T,17,43094297,rs587776478,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val412Ile,p.Val412Ile,c.1234G>A,missense_variant,Conflicting interpretations of pathogenicity,156182,,1,1461848,6.840656484121468e-7,0,0,,,3.80,0.534,0.00,0.00,1.68,0.130,0.0680,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86254,0,0,0,60392,0,0 -17-43094298-A-C,17,43094298,rs80357024,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp411Glu,p.Asp411Glu,c.1233T>G,missense_variant,Benign,41804,,41,1614214,0.00002539935844937536,0,0,afr,0.00028752000000000015,0.518,0.639,0.00,0.0100,-1.02,0.160,0.00700,30,75080,0,0,4,60014,0,0,0,29606,0,0,0,44888,0,0,0,64022,0,0,0,6062,0,0,1,1180036,0,0,0,912,0,0,0,91088,0,0,6,62506,0,0 -17-43094300-C-G,17,43094300,rs80357301,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411His,p.Asp411His,c.1231G>C,missense_variant,Conflicting interpretations of pathogenicity,929252,,1,628734,0.0000015904977303597388,0,0,,,13.2,0.519,0.00,0.00,1.25,0.0400,0.0620,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36062,0,0,0,53120,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094300-C-T,17,43094300,rs80357301,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411Asn,p.Asp411Asn,c.1231G>A,missense_variant,Conflicting interpretations of pathogenicity,54168,,2,628734,0.0000031809954607194776,0,0,nfe,9.5e-7,9.33,0.185,0.00,0.0100,1.25,0.170,0.0260,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53120,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094303-C-G,17,43094303,rs779974365,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala410Pro,p.Ala410Pro,c.1228G>C,missense_variant,Conflicting interpretations of pathogenicity,1754889,,1,1461846,6.840665843050499e-7,0,0,,,17.8,0.596,0.00,0.00,0.948,0.0200,0.887,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53404,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43094303-C-T,17,43094303,rs779974365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala410Thr,p.Ala410Thr,c.1228G>A,missense_variant,Conflicting interpretations of pathogenicity,246448,,3,1614040,0.0000018586899952913187,0,0,afr,0.00001063,8.54,0.611,0.00,0.00,0.948,0.150,0.759,3,74926,0,0,0,59998,0,0,0,29604,0,0,0,44896,0,0,0,64014,0,0,0,6084,0,0,0,1180036,0,0,0,912,0,0,0,91088,0,0,0,62482,0,0 -17-43094304-T-C,17,43094304,rs149349675,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val409Val,p.Val409Val,c.1227A>G,synonymous_variant,Likely benign,185871,,1,152216,0.0000065696116045619385,0,0,,,3.61,,0.00,0.00,0.270,,,0,41462,0,0,0,15276,0,0,0,3470,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43094307-T-C,17,43094307,rs2154465949,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys408Lys,p.Lys408Lys,c.1224A>G,synonymous_variant,,,,1,628748,0.0000015904623155858944,0,0,,,4.00,,0.00,0.0100,0.890,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094309-T-C,17,43094309,rs80357253,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys408Glu,p.Lys408Glu,c.1222A>G,missense_variant,Conflicting interpretations of pathogenicity,37399,,41,1461860,0.00002804646135744873,0,0,nfe,0.00002743,2.38,0.550,0.00,0.0100,0.160,1.00,0.00100,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53410,0,0,0,5768,0,0,41,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43094313-A-G,17,43094313,rs2053974420,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn406Asn,p.Asn406Asn,c.1218T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.84,,0.00,0.0100,-0.143,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094316-TGATTCA-T,17,43094316,,TGATTCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu404_Ser405del,p.Glu404_Ser405del,c.1209_1214del,inframe_deletion,,,,1,1461858,6.840609689860438e-7,0,0,,,11.1,,0.00,0.00,-0.00200,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,1,39692,0,0,0,53412,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 -17-43094316-TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA-T,17,43094316,rs80359874,TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu392GlnfsTer5,p.Leu392GlnfsTer5,c.1175_1214del,frameshift_variant,Pathogenic,17665,,12,1614088,0.000007434538885116548,0,0,nfe,0.00000429,25.9,,0.00,0.0200,-0.00200,,,0,74942,0,0,0,60000,0,0,0,29604,0,0,0,44888,0,0,0,64036,0,0,0,6084,0,0,10,1180048,0,0,0,912,0,0,0,91092,0,0,2,62482,0,0 -17-43094316-T-C,17,43094316,rs786201517,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser405Ser,p.Ser405Ser,c.1215A>G,synonymous_variant,Likely benign,184519,,2,1614088,0.0000012390898141860915,0,0,,,6.63,,0.00,0.00,-0.00200,,,0,74942,0,0,0,60000,0,0,0,29604,0,0,0,44888,0,0,0,64036,0,0,0,6084,0,0,2,1180048,0,0,0,912,0,0,0,91092,0,0,0,62482,0,0 -17-43094317-G-C,17,43094317,rs80357481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser405Ter,p.Ser405Ter,c.1214C>G,stop_gained,Pathogenic,96896,,1,1461816,6.840806230059049e-7,0,0,,,32.0,,0.00,0.0100,2.31,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86242,0,0,0,60388,0,0 -17-43094319-T-C,17,43094319,rs1057521863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu404Glu,p.Glu404Glu,c.1212A>G,synonymous_variant,Likely benign,384114,,4,628726,0.000006362071872325942,0,0,nfe,0.0000036699999999999996,5.34,,0.00,0.00,-0.451,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,4,350090,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43094321-C-G,17,43094321,rs753748171,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu404Gln,p.Glu404Gln,c.1210G>C,missense_variant,,,,4,1613986,0.000002478336243313139,0,0,sas,0.00000875,22.2,0.602,0.00,0.00,1.31,0.0100,0.926,0,74924,0,0,0,59996,0,0,0,29602,0,0,0,44890,0,0,0,64026,0,0,0,6084,0,0,0,1179992,0,0,0,912,0,0,3,91082,0,0,1,62478,0,0 -17-43094324-A-G,17,43094324,rs1555592200,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser403Pro,p.Ser403Pro,c.1207T>C,missense_variant,Conflicting interpretations of pathogenicity,481460,,2,628726,0.000003181035936162971,0,0,nfe,9.5e-7,5.08,0.637,0.00,0.00,-0.258,0.230,0.0490,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43094324-A-C,17,43094324,rs1555592200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser403Ala,p.Ser403Ala,c.1207T>G,missense_variant,Conflicting interpretations of pathogenicity,818573,,2,628726,0.000003181035936162971,0,0,,,4.18,0.580,0.00,0.00,-0.258,0.200,0.140,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,1,53132,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43094325-C-A,17,43094325,rs1283231905,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu402Asp,p.Glu402Asp,c.1206G>T,missense_variant,Conflicting interpretations of pathogenicity,1172310,,2,628724,0.000003181046055184787,0,0,,,0.299,0.587,0.00,0.00,-0.584,0.580,0.0880,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,2,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43094329-C-T,17,43094329,rs397507184,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Glu,p.Gly401Glu,c.1202G>A,missense_variant,Conflicting interpretations of pathogenicity,37398,,10,1461830,0.000006840740715404664,0,0,eas,0.00013579999999999997,0.373,0.560,0.00,0.00,-0.647,0.400,0.0200,0,33480,0,0,0,44724,0,0,0,26134,0,0,10,39692,0,0,0,53412,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43094329-C-G,17,43094329,rs397507184,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Ala,p.Gly401Ala,c.1202G>C,missense_variant,Conflicting interpretations of pathogenicity,91541,,2,1461830,0.0000013681481430809329,0,0,nfe,2.999999999999999e-7,0.328,0.543,0.00,0.0100,-0.647,0.290,0.219,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53412,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 -17-43094330-C-T,17,43094330,rs1555592242,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Arg,p.Gly401Arg,c.1201G>A,missense_variant,Conflicting interpretations of pathogenicity,531230,,2,1461822,0.0000013681556304392737,0,0,nfe,2.999999999999999e-7,0.327,0.584,0.00,0.0100,-2.01,0.990,0.0200,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53404,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43094332-T-C,17,43094332,rs1555592245,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp400Gly,p.Asp400Gly,c.1199A>G,missense_variant,Conflicting interpretations of pathogenicity,441494,,1,833100,0.0000012003360941063497,0,0,,,15.6,0.497,0.00,0.0100,0.0290,0.0700,0.380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094333-C-T,17,43094333,rs2053979139,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp400Asn,p.Asp400Asn,c.1198G>A,missense_variant,Benign,1060748,,2,152206,0.000013140086461768918,0,0,afr,0.000008,18.9,0.289,0.00,0.00,1.14,,,2,41444,0,0,0,15284,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43094335-T-C,17,43094335,rs587780794,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His399Arg,p.His399Arg,c.1196A>G,missense_variant,Conflicting interpretations of pathogenicity,136078,,2,628736,0.000003180985342019544,0,0,,,5.56,0.580,0.00,0.00,-0.371,0.370,0.0550,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36064,0,0,0,53134,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43094338-G-A,17,43094338,rs80357068,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser398Leu,p.Ser398Leu,c.1193C>T,missense_variant,Conflicting interpretations of pathogenicity,652057,,2,628726,0.000003181035936162971,0,0,nfe,9.5e-7,15.4,0.527,0.00,0.00,1.49,0.0600,0.139,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,2,350086,0,0,,,,,0,69792,0,0,0,33092,0,0 -17-43094340-GT-G,17,43094340,rs748714307,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp397AlafsTer13,p.Asp397AlafsTer13,c.1190del,frameshift_variant,Pathogenic,254392,,1,1461828,6.840750074564176e-7,0,0,,,20.9,,0.00,0.0300,-0.327,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5766,0,0,0,1111982,0,0,,,,,1,86254,0,0,0,60390,0,0 -17-43094340-G-A,17,43094340,rs2154471430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp397Asp,p.Asp397Asp,c.1191C>T,synonymous_variant,Likely benign,1744986,,1,1461828,6.840750074564176e-7,0,0,,,5.19,,0.00,0.00,-0.327,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5766,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60390,0,0 -17-43094344-T-A,17,43094344,rs1555592280,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp396Val,p.Asp396Val,c.1187A>T,missense_variant,Conflicting interpretations of pathogenicity,629134,,2,628730,0.000003181015698312471,0,0,nfe,9.5e-7,23.4,0.557,0.00,0.0100,0.301,0.00,0.988,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43094345-C-T,17,43094345,rs786203145,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp396Asn,p.Asp396Asn,c.1186G>A,missense_variant,Conflicting interpretations of pathogenicity,186688,,5,1461820,0.0000034203937557291596,0,0,nfe,0.0000013199999999999999,16.0,0.425,0.00,0.0100,1.05,0.100,0.775,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,5,1111974,0,0,,,,,0,86254,0,0,0,60388,0,0 -17-43094349-A-G,17,43094349,rs2154471852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly394Gly,p.Gly394Gly,c.1182T>C,synonymous_variant,,,,1,833102,0.0000012003332124997898,0,0,,,11.4,,0.00,0.00,1.95,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094351-C-G,17,43094351,rs771837028,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly394Arg,p.Gly394Arg,c.1180G>C,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,16.8,0.519,0.00,0.0100,-0.104,0.00,0.0880,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33092,0,0 -17-43094353-A-G,17,43094353,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu393Ser,p.Leu393Ser,c.1178T>C,missense_variant,,,,1,833102,0.0000012003332124997898,0,0,,,23.8,0.683,0.00,0.00,2.00,0.0100,0.976,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094356-A-T,17,43094356,rs777305766,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu392Gln,p.Leu392Gln,c.1175T>A,missense_variant,,,,1,628720,0.0000015905331467107776,0,0,,,23.7,0.516,0.00,0.00,0.315,0.00,0.808,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53132,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33090,0,0 -17-43094357-G-A,17,43094357,rs2154472222,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu392Leu,p.Leu392Leu,c.1174C>T,synonymous_variant,Likely benign,1740301,,1,628744,0.0000015904724339317751,0,0,,,4.47,,0.00,0.00,0.231,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094358-T-C,17,43094358,rs1131692097,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu391Glu,p.Glu391Glu,c.1173A>G,synonymous_variant,Likely benign,427288,,7,1461854,0.000004788439885241618,0,0,nfe,0.0000026200000000000003,7.22,,0.00,0.00,-0.304,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,7,1111994,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094360-C-G,17,43094360,rs562553169,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu391Gln,p.Glu391Gln,c.1171G>C,missense_variant,,,,2,1614162,0.000001239033009078395,0,0,,,22.6,0.533,0.00,0.00,2.49,0.00,0.974,0,75058,0,0,0,60030,0,0,0,29604,0,0,0,44884,0,0,0,64020,0,0,0,6062,0,0,0,1180012,0,0,0,912,0,0,2,91072,0,0,0,62508,0,0 -17-43094360-C-A,17,43094360,rs562553169,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu391Ter,p.Glu391Ter,c.1171G>T,stop_gained,Pathogenic,266140,,2,1461846,0.0000013681331686100997,0,0,,,33.0,,0.00,0.0300,2.49,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53408,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86244,0,0,0,60394,0,0 -17-43094369-T-C,17,43094369,rs111312760,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg388Gly,p.Arg388Gly,c.1162A>G,missense_variant,Conflicting interpretations of pathogenicity,1737108,,2,1461850,0.000001368129425043609,0,0,,,27.3,0.900,0.00,0.00,4.72,0.00,0.999,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86252,0,0,0,60394,0,0 -17-43094371-G-A,17,43094371,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser387Phe,p.Ser387Phe,c.1160C>T,missense_variant,,,,1,1461856,6.840619048661428e-7,0,0,,,23.9,0.755,0.00,-0.0100,4.18,0.0300,0.521,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094372-A-T,17,43094372,rs876659403,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser387Thr,p.Ser387Thr,c.1159T>A,missense_variant,Benign,231852,,3,1461858,0.0000020521829069581315,0,0,nfe,2.999999999999999e-7,24.9,0.800,0.00,0.00,4.66,0.0200,0.855,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,2,1111998,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43094379-C-T,17,43094379,rs1057523704,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu384Glu,p.Glu384Glu,c.1152G>A,synonymous_variant,Likely benign,390270,,1,833110,0.0000012003216862119048,0,0,,,6.60,,0.00,0.00,0.494,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094382-A-G,17,43094382,rs979531844,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn383Asn,p.Asn383Asn,c.1149T>C,synonymous_variant,Likely benign,491027,,1,628746,0.0000015904673747427419,0,0,,,8.49,,0.00,0.00,-0.192,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53130,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69794,0,0,1,33096,0,0 -17-43094383-T-C,17,43094383,rs770090143,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn383Ser,p.Asn383Ser,c.1148A>G,missense_variant,Conflicting interpretations of pathogenicity,1319809,,2,1461852,0.0000013681275532680463,0,0,,,24.6,0.769,0.00,0.0100,2.96,0.0100,0.951,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53404,0,0,0,5768,0,0,1,1112000,0,0,,,,,1,86254,0,0,0,60394,0,0 -17-43094387-C-A,17,43094387,rs1160165083,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val382Phe,p.Val382Phe,c.1144G>T,missense_variant,Conflicting interpretations of pathogenicity,822244,,1,152242,0.0000065684896414918355,0,0,,,25.1,0.897,0.00,0.00,8.90,,,0,41462,0,0,1,15288,0,0,0,3472,0,0,0,5206,0,0,0,10624,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 -17-43094387-C-G,17,43094387,rs1160165083,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val382Leu,p.Val382Leu,c.1144G>C,missense_variant,Conflicting interpretations of pathogenicity,1732175,,2,833110,0.0000024006433724238097,0,0,,,24.8,0.872,0.00,0.00,8.90,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094393-G-T,17,43094393,rs397508840,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln380Lys,p.Gln380Lys,c.1138C>A,missense_variant,,,,1,628738,0.0000015904876116919926,0,0,,,24.1,0.717,0.00,0.00,4.90,0.0100,0.854,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094394-A-C,17,43094394,rs56128296,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile379Met,p.Ile379Met,c.1137T>G,missense_variant,Benign/Likely benign,54143,,449,1614162,0.00027816291053809966,2,0,afr,0.005001030000000001,23.9,0.819,0.00,0.00,1.35,0.00,0.999,408,75046,2,0,10,60018,0,0,0,29602,0,0,0,44882,0,0,0,64024,0,0,1,6062,0,0,7,1180026,0,0,0,912,0,0,0,91082,0,0,23,62508,0,0 -17-43094395-A-G,17,43094395,rs1567800757,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379Thr,p.Ile379Thr,c.1136T>C,missense_variant,Conflicting interpretations of pathogenicity,580309,,1,628740,0.0000015904825524064001,0,0,,,25.3,0.893,0.00,0.00,4.72,0.00,0.980,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094395-ATGCTG-A,17,43094395,,ATGCTG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379GlufsTer3,p.Ile379GlufsTer3,c.1131_1135del,frameshift_variant,,,,1,628740,0.0000015904825524064001,0,0,,,27.7,,0.00,0.0400,4.72,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094396-T-C,17,43094396,rs864622723,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379Val,p.Ile379Val,c.1135A>G,missense_variant,Conflicting interpretations of pathogenicity,221036,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,23.3,0.737,0.00,0.00,2.32,0.0300,0.953,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094397-G-T,17,43094397,rs863224752,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser378Arg,p.Ser378Arg,c.1134C>A,missense_variant,Conflicting interpretations of pathogenicity,216654,,11,1614032,0.000006815230429136473,0,0,nfe,0.000005,24.0,0.832,0.00,0.00,4.15,0.0400,0.976,0,74918,0,0,0,60000,0,0,0,29606,0,0,0,44896,0,0,0,64018,0,0,0,6084,0,0,11,1180030,0,0,0,912,0,0,0,91088,0,0,0,62480,0,0 -17-43094400-G-C,17,43094400,rs786203434,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser377Arg,p.Ser377Arg,c.1131C>G,missense_variant,Conflicting interpretations of pathogenicity,489706,,4,1614004,0.00000247830860394398,0,0,nfe,6.800000000000001e-7,23.2,0.722,0.00,0.0100,1.04,0.0800,0.993,0,74918,0,0,0,59996,0,0,0,29604,0,0,1,44898,0,0,0,63996,0,0,0,6084,0,0,3,1180028,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 -17-43094400-G-T,17,43094400,rs786203434,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser377Arg,p.Ser377Arg,c.1131C>A,missense_variant,Conflicting interpretations of pathogenicity,187050,,3,1614004,0.0000018587314529579852,0,0,nfe,2.8000000000000007e-7,23.2,0.722,0.00,0.00,1.04,0.0800,0.993,1,74918,0,0,0,59996,0,0,0,29604,0,0,0,44898,0,0,0,63996,0,0,0,6084,0,0,2,1180028,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 -17-43094403-AT-A,17,43094403,rs80357821,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn376IlefsTer18,p.Asn376IlefsTer18,c.1127del,frameshift_variant,Pathogenic,54140,,1,628742,0.0000015904774931529943,0,0,,,25.5,,0.00,0.0200,-0.897,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53122,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094406-T-C,17,43094406,rs1060504578,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu375Leu,p.Leu375Leu,c.1125A>G,synonymous_variant,Likely benign,415584,,3,628738,0.000004771462835075978,0,0,nfe,0.00000228,9.30,,0.00,0.00,0.417,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53120,0,0,0,4148,0,0,3,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094408-G-C,17,43094408,rs1131692084,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu375Val,p.Leu375Val,c.1123C>G,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,17.6,0.639,0.00,0.0100,1.61,0.0600,0.838,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53112,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094409-TG-T,17,43094409,rs80357612,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374AsnfsTer2,p.Thr374AsnfsTer2,c.1121del,frameshift_variant,Pathogenic,37391,,2,628740,0.0000031809651048128003,0,0,nfe,9.5e-7,25.9,,0.00,0.0300,-0.446,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53122,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094410-G-A,17,43094410,rs80357235,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374Ile,p.Thr374Ile,c.1121C>T,missense_variant,Conflicting interpretations of pathogenicity,54136,,1,628722,0.0000015905280871354907,0,0,,,23.9,0.677,0.00,0.0100,4.20,0.0100,0.919,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53110,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094411-T-C,17,43094411,rs2154475036,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374Ala,p.Thr374Ala,c.1120A>G,missense_variant,,,,1,628738,0.0000015904876116919926,0,0,,,19.1,0.722,0.00,0.0100,1.07,0.0700,0.874,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094414-T-A,17,43094414,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile373Leu,p.Ile373Leu,c.1117A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.2,0.530,0.00,0.0200,-1.26,0.150,0.0840,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094414-T-C,17,43094414,rs373218165,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile373Val,p.Ile373Val,c.1117A>G,missense_variant,,,,1,152234,0.0000065688348200796145,0,0,,,6.84,0.549,0.00,0.0200,-1.26,,,0,41466,0,0,0,15286,0,0,0,3470,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 -17-43094415-C-G,17,43094415,rs80357468,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Cys,p.Trp372Cys,c.1116G>C,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,24.8,0.602,0.00,0.0100,5.02,0.0100,0.967,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094415-C-T,17,43094415,rs80357468,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Ter,p.Trp372Ter,c.1116G>A,stop_gained,Pathogenic,54135,,1,1461836,6.840712638079785e-7,0,0,,,35.0,,0.00,0.0300,5.02,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094416-C-T,17,43094416,rs397508838,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Trp372Ter,p.Trp372Ter,c.1115G>A,stop_gained,Pathogenic,54134,,1,152184,0.000006570993008463439,0,0,,,35.0,,0.00,0.0500,5.03,,,0,41442,0,0,0,15284,0,0,0,3468,0,0,0,5198,0,0,1,10610,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43094417-A-G,17,43094417,rs1306111238,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Arg,p.Trp372Arg,c.1114T>C,missense_variant,Conflicting interpretations of pathogenicity,485404,,3,833106,0.00000360098234798453,0,0,sas,0.00002107,25.1,0.616,0.00,0.00,2.94,0.0400,0.946,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,2,16460,0,0,0,27298,0,0 -17-43094418-A-G,17,43094418,rs876658619,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro371Pro,p.Pro371Pro,c.1113T>C,synonymous_variant,Likely benign,230530,,2,152218,0.000013139050572205653,0,0,afr,0.00000799,9.93,,0.00,0.00,0.634,,,2,41462,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43094420-G-A,17,43094420,rs2154475408,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro371Ser,p.Pro371Ser,c.1111C>T,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,0.603,0.562,0.00,0.0100,0.407,0.430,0.702,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53384,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094422-ACAT-A,17,43094422,rs80358325,ACAT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp369del,p.Asp369del,c.1106_1108del,inframe_deletion,Benign,54130,,156,1614042,0.00009665175999137569,0,0,nfe,0.00010792,9.23,,0.00,0.0100,1.01,,,2,74928,0,0,0,60004,0,0,0,29606,0,0,0,44906,0,0,0,63996,0,0,0,6084,0,0,147,1180044,0,0,0,912,0,0,0,91076,0,0,7,62486,0,0 -17-43094423-C-A,17,43094423,rs1567800850,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val370Phe,p.Val370Phe,c.1108G>T,missense_variant,Conflicting interpretations of pathogenicity,1794369,,1,628674,0.0000015906495258273763,0,0,,,6.42,0.590,0.00,0.00,-0.160,0.0300,0.513,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53110,0,0,0,4148,0,0,1,350046,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094423-C-G,17,43094423,rs1567800850,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val370Leu,p.Val370Leu,c.1108G>C,missense_variant,Conflicting interpretations of pathogenicity,628528,,1,628674,0.0000015906495258273763,0,0,,,0.820,0.647,0.00,0.00,-0.160,0.0800,0.392,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53110,0,0,0,4148,0,0,1,350046,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094424-A-G,17,43094424,rs1173044823,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp369Asp,p.Asp369Asp,c.1107T>C,synonymous_variant,Likely benign,1619219,,1,152210,0.000006569870573549701,0,0,,,4.18,,0.00,0.00,0.388,,,1,41460,0,0,0,15276,0,0,0,3466,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43094426-C-T,17,43094426,rs56056711,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp369Asn,p.Asp369Asn,c.1105G>A,missense_variant,Benign,37390,,22,780922,0.000028171827660124828,0,0,nfe,0.000035419999999999996,14.0,0.398,0.00,0.0200,4.17,0.0600,0.838,0,59152,0,0,0,59018,0,0,0,24450,0,0,0,41272,0,0,0,63704,0,0,0,4464,0,0,22,418132,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 -17-43094427-T-A,17,43094427,rs2154475859,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu368Asp,p.Glu368Asp,c.1104A>T,missense_variant,,,,2,628724,0.000003181046055184787,0,0,sas,0.00000476,10.7,0.625,0.00,0.0100,-0.336,0.0300,0.0380,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53100,0,0,0,4148,0,0,0,350102,0,0,,,,,2,69794,0,0,0,33096,0,0 -17-43094431-G-A,17,43094431,rs1238929596,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr367Ile,p.Thr367Ile,c.1100C>T,missense_variant,,,,2,1461818,0.000001368159374149176,0,0,,,5.89,0.518,0.00,0.00,1.86,0.0100,0.0560,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53362,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86254,0,0,2,60394,0,0 -17-43094432-T-C,17,43094432,rs878854929,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr367Ala,p.Thr367Ala,c.1099A>G,missense_variant,Conflicting interpretations of pathogenicity,240769,,1,833108,0.0000012003245677631232,0,0,,,0.531,0.538,0.00,0.00,-0.196,0.280,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43094435-C-G,17,43094435,rs1289961661,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp366His,p.Asp366His,c.1096G>C,missense_variant,Conflicting interpretations of pathogenicity,489705,,13,833110,0.00001560418192075476,0,0,nfe,0.00000952,17.0,0.446,0.00,0.00,0.743,0.0300,0.665,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,13,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094436-T-C,17,43094436,rs2154476392,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg365Arg,p.Arg365Arg,c.1095A>G,synonymous_variant,Likely benign,2008407,,1,833110,0.0000012003216862119048,0,0,,,3.62,,0.00,0.0200,0.0110,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094437-C-T,17,43094437,rs2053994698,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg365Lys,p.Arg365Lys,c.1094G>A,missense_variant,Conflicting interpretations of pathogenicity,948211,,1,1461790,6.840927903460826e-7,0,0,,,0.587,0.614,0.00,0.00,0.772,0.270,0.593,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53342,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094438-TAGGATTCTCTG-T,17,43094438,rs80359880,TAGGATTCTCTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser361Ter,p.Ser361Ter,c.1082_1092del,frameshift_variant,Pathogenic,54122,,4,628686,0.000006362476657663762,0,0,nfe,0.00000228,22.4,,0.00,0.0300,-0.0380,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53070,0,0,0,4148,0,0,3,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094449-G-C,17,43094449,rs397508833,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser361Ter,p.Ser361Ter,c.1082C>G,stop_gained,Pathogenic,54121,,1,833110,0.0000012003216862119048,0,0,,,33.0,,0.00,-0.0300,2.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094450-A-G,17,43094450,rs80356946,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser361Pro,p.Ser361Pro,c.1081T>C,missense_variant,Conflicting interpretations of pathogenicity,54120,,5,780830,0.000006403442490682991,0,0,nfe,0.0000045,2.88,0.560,0.00,0.00,0.110,0.500,0.0440,0,59146,0,0,0,59008,0,0,0,24452,0,0,0,41258,0,0,0,63648,0,0,0,4464,0,0,5,418130,0,0,0,910,0,0,0,74624,0,0,0,35190,0,0 -17-43094454-T-C,17,43094454,rs1360964488,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Pro,p.Pro359Pro,c.1077A>G,synonymous_variant,Likely benign,928220,,1,628632,0.0000015907557998956464,0,0,,,1.32,,0.00,0.00,-2.19,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53016,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69794,0,0,0,33092,0,0 -17-43094455-G-A,17,43094455,rs397508831,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Leu,p.Pro359Leu,c.1076C>T,missense_variant,Conflicting interpretations of pathogenicity,54118,,1,833110,0.0000012003216862119048,0,0,,,1.50,0.439,0.00,0.00,-0.00300,0.450,0.0500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094456-G-A,17,43094456,rs767666190,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Ser,p.Pro359Ser,c.1075C>T,missense_variant,Conflicting interpretations of pathogenicity,252384,,13,1461700,0.000008893753848258876,0,0,sas,0.000015830000000000003,1.09,0.516,0.00,0.00,1.13,0.270,0.196,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53248,0,0,0,5768,0,0,8,1112004,0,0,,,,,4,86254,0,0,0,60392,0,0 -17-43094457-C-A,17,43094457,rs2154477691,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu358Leu,p.Leu358Leu,c.1074G>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,0.546,,0.00,0.00,0.440,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094459-G-A,17,43094459,rs377310179,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu358Leu,p.Leu358Leu,c.1072C>T,synonymous_variant,Likely benign,230917,,1,152198,0.000006570388572780194,0,0,,,0.595,,0.00,0.00,-0.185,,,0,41442,0,0,0,15280,0,0,0,3470,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43094460-T-C,17,43094460,rs786202159,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys357Lys,p.Lys357Lys,c.1071A>G,synonymous_variant,Likely benign,185419,,15,1461744,0.000010261714773585525,0,0,nfe,0.00000652,3.45,,0.00,0.00,-0.111,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53286,0,0,0,5768,0,0,13,1112008,0,0,,,,,0,86254,0,0,2,60394,0,0 -17-43094464-T-C,17,43094464,rs1799950,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln356Arg,p.Gln356Arg,c.1067A>G,missense_variant,Benign,41803,,88872,1614048,0.05506155950752394,2838,0,nfe,0.06244073,22.4,0.417,0.00,0.00,2.48,0.0100,0.988,783,75064,7,0,1830,60032,36,0,2324,29602,86,0,9,44890,0,0,5015,63878,225,0,355,6062,23,0,74129,1180014,2331,0,15,912,0,0,1238,91088,23,0,3174,62506,107,0 -17-43094465-G-A,17,43094465,rs80357215,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln356Ter,p.Gln356Ter,c.1066C>T,stop_gained,Pathogenic,54114,,1,628592,0.0000015908570264973147,0,0,,,33.0,,0.00,0.0400,3.49,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52972,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094466-C-T,17,43094466,rs41286292,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys355Lys,p.Lys355Lys,c.1065G>A,synonymous_variant,Likely benign,54113,,149,1614038,0.00009231505082284309,0,0,nfe,0.00008756,2.46,,0.00,0.00,0.211,,,2,75042,0,0,0,60026,0,0,0,29604,0,0,0,44890,0,0,0,63880,0,0,5,6062,0,0,121,1180030,0,0,0,912,0,0,3,91084,0,0,18,62508,0,0 -17-43094468-T-G,17,43094468,rs397508829,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys355Gln,p.Lys355Gln,c.1063A>C,missense_variant,,,,1,628622,0.0000015907811053383433,0,0,,,6.68,0.511,0.00,0.00,-0.411,0.0200,0.710,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52998,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094477-C-A,17,43094477,rs80357472,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu352Ter,p.Glu352Ter,c.1054G>T,stop_gained,Pathogenic,54108,,1,628606,0.0000015908215957213262,0,0,,,23.9,,0.00,0.0300,0.234,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094482-C-T,17,43094482,rs2054001685,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg350Lys,p.Arg350Lys,c.1049G>A,missense_variant,Conflicting interpretations of pathogenicity,921476,,2,1461708,0.0000013682623342008117,0,0,nfe,2.999999999999999e-7,7.44,0.636,0.00,0.00,0.945,0.120,0.627,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53252,0,0,0,5768,0,0,2,1112004,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094488-C-T,17,43094488,rs752198747,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys348Tyr,p.Cys348Tyr,c.1043G>A,missense_variant,Conflicting interpretations of pathogenicity,225706,,1,1461688,6.841405279375625e-7,0,0,,,0.00500,0.561,0.00,0.00,-0.624,1.00,0.00100,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53236,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43094490-C-T,17,43094490,rs1555592609,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Leu,p.Leu347Leu,c.1041G>A,synonymous_variant,Likely benign,462545,,1,628592,0.0000015908570264973147,0,0,,,0.128,,0.00,0.0100,0.0620,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,52972,0,0,0,4146,0,0,0,350100,0,0,,,,,1,69794,0,0,0,33098,0,0 -17-43094491-A-T,17,43094491,rs757987511,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Gln,p.Leu347Gln,c.1040T>A,missense_variant,Conflicting interpretations of pathogenicity,441364,,8,1461682,0.000005473146689909296,0,0,sas,0.00003764999999999999,18.7,0.546,0.00,0.0100,0.672,0.0300,0.775,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53234,0,0,0,5768,0,0,1,1111998,0,0,,,,,7,86252,0,0,0,60396,0,0 -17-43094492-G-A,17,43094492,rs1378561919,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Leu,p.Leu347Leu,c.1039C>T,synonymous_variant,Likely benign,462544,,1,628546,0.000001590973453016963,0,0,,,0.451,,0.00,0.00,-0.0280,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,1,52932,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69790,0,0,0,33098,0,0 -17-43094495-G-A,17,43094495,rs80357015,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro346Ser,p.Pro346Ser,c.1036C>T,missense_variant,Benign,37389,,34,1613798,0.000021068312143155462,0,0,eas,0.0005184900000000001,0.359,0.515,0.00,0.00,0.820,0.720,0.0480,0,74918,0,0,0,59986,0,0,0,29600,0,0,32,44896,0,0,0,63794,0,0,0,6084,0,0,0,1180040,0,0,0,912,0,0,0,91084,0,0,2,62484,0,0 -17-43094495-G-C,17,43094495,rs80357015,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro346Ala,p.Pro346Ala,c.1036C>G,missense_variant,Conflicting interpretations of pathogenicity,573731,,2,1613798,0.000001239312479009145,0,0,,,0.911,0.447,0.00,0.00,0.820,0.150,0.0610,0,74918,0,0,0,59986,0,0,0,29600,0,0,0,44896,0,0,0,63794,0,0,0,6084,0,0,2,1180040,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 -17-43094496-A-T,17,43094496,rs1164807386,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp345Glu,p.Asp345Glu,c.1035T>A,missense_variant,,,,1,628588,0.000001590867149866049,0,0,,,6.85,0.538,0.00,0.00,0.283,0.120,0.396,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,52964,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69794,0,0,0,33098,0,0 -17-43094498-C-G,17,43094498,rs80356961,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp345His,p.Asp345His,c.1033G>C,missense_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,14.0,0.501,0.00,0.0100,2.42,0.140,0.900,1,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53226,0,0,0,5768,0,0,0,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094499-A-G,17,43094499,rs2154479461,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Ala,p.Ala344Ala,c.1032T>C,synonymous_variant,,,,2,833110,0.0000024006433724238097,0,0,,,5.51,,0.00,0.00,0.107,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094500-G-A,17,43094500,rs876658636,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Val,p.Ala344Val,c.1031C>T,missense_variant,Conflicting interpretations of pathogenicity,230563,,1,628540,0.000001590988640341108,0,0,,,9.55,0.482,0.00,0.0100,3.29,0.120,0.491,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52920,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094501-C-T,17,43094501,rs79727659,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Thr,p.Ala344Thr,c.1030G>A,missense_variant,Conflicting interpretations of pathogenicity,54104,,4,628588,0.000006363468599464196,0,0,nfe,0.0000036699999999999996,6.18,0.560,0.00,0.0100,1.89,0.120,0.260,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52966,0,0,0,4148,0,0,4,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094505-C-T,17,43094505,rs1171571879,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu342Leu,p.Leu342Leu,c.1026G>A,synonymous_variant,Benign/Likely benign,481481,,1,152188,0.000006570820301206403,0,0,,,3.54,,0.00,0.0100,1.84,,,1,41446,0,0,0,15270,0,0,0,3468,0,0,0,5206,0,0,0,10620,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 -17-43094509-T-G,17,43094509,rs1567801162,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp341Ala,p.Asp341Ala,c.1022A>C,missense_variant,Conflicting interpretations of pathogenicity,574708,,1,628604,0.0000015908266571641288,0,0,,,5.55,0.568,0.00,0.0100,0.276,0.380,0.0240,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43094510-C-A,17,43094510,rs756987689,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp341Tyr,p.Asp341Tyr,c.1021G>T,missense_variant,Conflicting interpretations of pathogenicity,482915,,1,628600,0.000001590836780146357,0,0,,,15.1,0.628,0.00,0.0200,1.27,0.0800,0.0910,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52980,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69792,0,0,0,33098,0,0 -17-43094511-T-A,17,43094511,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val340Val,p.Val340Val,c.1020A>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,3.59,,0.00,0.00,-0.914,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094514-C-T,17,43094514,rs863224416,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339Lys,p.Lys339Lys,c.1017G>A,synonymous_variant,Likely benign,215867,,2,628612,0.0000031816128231723227,0,0,nfe,9.5e-7,5.15,,0.00,0.0100,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52986,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43094514-CT-C,17,43094514,rs80357569,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339ArgfsTer2,p.Lys339ArgfsTer2,c.1016del,frameshift_variant,Pathogenic,37386,,1,628610,0.0000015908114729323427,0,0,,,21.2,,0.00,0.0400,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43094514-C-CT,17,43094514,rs80357569,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val340GlyfsTer6,p.Val340GlyfsTer6,c.1016dup,frameshift_variant,Pathogenic,54102,,2,628610,0.0000031816229458646854,0,0,,,21.7,,0.00,0.0300,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,52984,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 -17-43094515-T-G,17,43094515,rs587781737,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys339Thr,p.Lys339Thr,c.1016A>C,missense_variant,Conflicting interpretations of pathogenicity,141428,,7,152320,0.000045955882352941176,0,0,afr,0.00007869999999999997,13.4,0.496,0.00,0.00,0.234,0.270,0.688,7,41574,0,0,0,15302,0,0,0,3470,0,0,0,5194,0,0,0,10630,0,0,0,294,0,0,0,68006,0,0,0,912,0,0,0,4824,0,0,0,2114,0,0 -17-43094516-T-C,17,43094516,rs55842957,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339Glu,p.Lys339Glu,c.1015A>G,missense_variant,Conflicting interpretations of pathogenicity,96894,,19,1461760,0.000012998029772329247,0,0,nfe,0.00001093,14.0,0.536,0.00,0.0100,2.48,0.120,0.443,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53302,0,0,0,5768,0,0,19,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094517-T-A,17,43094517,rs876660793,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Asn,p.Lys338Asn,c.1014A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.9,0.432,0.00,0.0100,0.307,0.0500,0.133,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094519-T-C,17,43094519,rs397508826,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Glu,p.Lys338Glu,c.1012A>G,missense_variant,Conflicting interpretations of pathogenicity,409360,,1,1461760,6.84106830122592e-7,0,0,,,0.506,0.544,0.00,0.00,-1.57,0.630,0.0120,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43094519-T-A,17,43094519,rs397508826,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Ter,p.Lys338Ter,c.1012A>T,stop_gained,Pathogenic,54101,,3,1461760,0.000002052320490367776,0,0,nfe,7.200000000000001e-7,24.1,,0.00,0.0500,-1.57,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43094523-T-C,17,43094523,rs1060504568,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Thr,p.Thr336Thr,c.1008A>G,synonymous_variant,Conflicting interpretations of pathogenicity,415571,,2,628656,0.0000031813901402356776,0,0,amr,0.000007580000000000001,3.88,,0.00,0.0100,0.381,,,0,17692,0,0,2,43738,0,0,0,20982,0,0,0,36068,0,0,0,53032,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094524-G-C,17,43094524,rs1597878639,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Arg,p.Thr336Arg,c.1007C>G,missense_variant,Conflicting interpretations of pathogenicity,818253,,5,1461576,0.000003420964766799674,0,0,nfe,0.0000013199999999999999,18.0,0.521,0.00,0.0100,5.88,0.00,0.378,0,33464,0,0,0,44678,0,0,0,26126,0,0,0,39694,0,0,0,53276,0,0,0,5764,0,0,5,1111958,0,0,,,,,0,86226,0,0,0,60390,0,0 -17-43094524-G-A,17,43094524,rs1597878639,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Ile,p.Thr336Ile,c.1007C>T,missense_variant,,,,1,1461576,6.841929533599348e-7,0,0,,,17.8,0.488,0.00,0.0400,5.88,0.0200,0.285,0,33464,0,0,0,44678,0,0,0,26126,0,0,0,39694,0,0,0,53276,0,0,0,5764,0,0,0,1111958,0,0,,,,,1,86226,0,0,0,60390,0,0 -17-43094530-G-A,17,43094530,rs41286290,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro334Leu,p.Pro334Leu,c.1001C>T,missense_variant,Benign,54099,,114,1613776,0.0000706417743230783,0,0,nfe,0.00007023,13.0,0.452,0.00,0.0100,1.02,0.0800,0.263,2,74862,0,0,0,59966,0,0,0,29606,0,0,0,44888,0,0,1,63890,0,0,0,6084,0,0,99,1180002,0,0,0,912,0,0,0,91078,0,0,12,62488,0,0 -17-43094531-G-A,17,43094531,rs1555592700,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro334Ser,p.Pro334Ser,c.1000C>T,missense_variant,,,,1,628688,0.0000015906141042933855,0,0,,,7.38,0.484,0.00,0.0100,0.982,0.0800,0.474,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53060,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094533-G-A,17,43094533,rs431825420,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr333Ile,p.Thr333Ile,c.998C>T,missense_variant,Conflicting interpretations of pathogenicity,96957,,1,628682,0.0000015906292847576358,0,0,,,9.63,0.571,0.00,0.0100,0.188,0.250,0.0200,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53056,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094534-T-C,17,43094534,rs786201634,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr333Ala,p.Thr333Ala,c.997A>G,missense_variant,Benign,184709,,4,780846,0.000005122649024263427,0,0,nfe,0.0000032400000000000003,12.1,0.506,0.00,0.0500,-0.675,0.220,0.0190,0,59132,0,0,0,59002,0,0,0,24454,0,0,0,41270,0,0,0,63686,0,0,0,4464,0,0,4,418120,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 -17-43094535-C-A,17,43094535,rs80356836,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Arg,p.Arg332Arg,c.996G>T,synonymous_variant,Likely benign,55777,,18,1613950,0.000011152761857554448,0,0,amr,0.00015359,6.84,,0.00,0.0300,1.59,,,0,74912,0,0,15,59986,0,0,0,29604,0,0,0,44902,0,0,0,63962,0,0,0,6084,0,0,1,1180030,0,0,0,912,0,0,0,91070,0,0,2,62488,0,0 -17-43094535-C-T,17,43094535,rs80356836,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg332Arg,p.Arg332Arg,c.996G>A,synonymous_variant,,,,1,1461806,6.840853027009056e-7,0,0,,,7.21,,0.00,0.0300,1.59,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53348,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86250,0,0,0,60396,0,0 -17-43094536-C-T,17,43094536,rs80357464,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Gln,p.Arg332Gln,c.995G>A,missense_variant,Conflicting interpretations of pathogenicity,55776,,18,1614032,0.000011152195247677864,0,0,amr,0.00003233,6.94,0.479,0.00,0.0600,0.486,1.00,0.00,1,75018,0,0,5,60008,0,0,0,29604,0,0,4,44886,0,0,0,63946,0,0,0,6062,0,0,4,1180024,0,0,0,910,0,0,2,91066,0,0,2,62508,0,0 -17-43094537-G-A,17,43094537,rs80357176,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Trp,p.Arg332Trp,c.994C>T,missense_variant,Conflicting interpretations of pathogenicity,55775,,18,1613872,0.00001115330088135862,0,0,afr,0.00001063,24.3,0.520,0.00,0.0400,5.87,0.00,0.339,3,74908,0,0,1,59986,0,0,0,29600,0,0,0,44902,0,0,0,63914,0,0,0,6084,0,0,14,1180006,0,0,0,912,0,0,0,91072,0,0,0,62488,0,0 -17-43094538-C-T,17,43094538,rs80357140,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg331Arg,p.Arg331Arg,c.993G>A,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,8.13,,0.00,0.0100,1.35,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094540-T-C,17,43094540,rs2154480962,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg331Gly,p.Arg331Gly,c.991A>G,missense_variant,,,,4,833106,0.000004801309797312707,0,0,nfe,0.0000012299999999999999,20.5,0.541,0.00,0.0100,0.726,0.230,0.411,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094541-A-G,17,43094541,rs978690648,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp330Asp,p.Asp330Asp,c.990T>C,synonymous_variant,Likely benign,427264,,5,1461844,0.0000034203376010025695,0,0,nfe,8.4e-7,8.00,,0.00,0.0200,0.500,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53384,0,0,0,5768,0,0,4,1112006,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43094542-T-C,17,43094542,rs1282699332,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp330Gly,p.Asp330Gly,c.989A>G,missense_variant,,,,1,152244,0.0000065684033525130715,0,0,,,16.1,0.525,0.00,0.0300,1.74,,,0,41462,0,0,0,15286,0,0,0,3470,0,0,0,5206,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43094543-C-T,17,43094543,rs397507259,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp330Asn,p.Asp330Asn,c.988G>A,missense_variant,Conflicting interpretations of pathogenicity,37713,,1,628726,0.0000015905179680814854,0,0,,,17.8,0.309,0.00,0.0100,2.98,0.0700,0.742,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53098,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094544-A-G,17,43094544,rs774849810,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn329Asn,p.Asn329Asn,c.987T>C,synonymous_variant,Likely benign,185687,,24,628740,0.0000381715812577536,0,0,amr,0.00035858000000000027,6.56,,0.00,0.0200,-0.403,,,0,17694,0,0,23,43740,0,0,0,20982,0,0,0,36068,0,0,0,53112,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,1,33098,0,0 -17-43094546-T-A,17,43094546,rs786203732,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn329Tyr,p.Asn329Tyr,c.985A>T,missense_variant,Conflicting interpretations of pathogenicity,187436,,2,152250,0.000013136288998357964,0,0,afr,0.00000799,22.2,0.554,0.00,0.00,-0.529,0.0200,0.354,2,41462,0,0,0,15286,0,0,0,3472,0,0,0,5206,0,0,0,10630,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43094548-C-G,17,43094548,rs1567801307,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys328Ser,p.Cys328Ser,c.983G>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,15.8,0.525,0.00,0.0200,2.43,0.140,0.969,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094548-CAT-C,17,43094548,rs80357772,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys328Ter,p.Cys328Ter,c.981_982del,frameshift_variant,Pathogenic,55772,,5,833108,0.000006001622838815616,0,0,nfe,0.0000012299999999999999,23.4,,0.00,0.0200,2.43,,,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,4,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094549-A-G,17,43094549,rs748156170,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys328Arg,p.Cys328Arg,c.982T>C,missense_variant,Conflicting interpretations of pathogenicity,230150,,6,985244,0.000006089862003726996,0,0,nfe,0.00000113,22.2,0.489,0.00,0.0100,1.03,0.0200,0.443,1,57208,0,0,0,16262,0,0,0,8624,0,0,0,8834,0,0,0,10876,0,0,0,1936,0,0,4,829916,0,0,0,912,0,0,1,21284,0,0,0,29392,0,0 -17-43094550-T-C,17,43094550,rs1800063,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr327Thr,p.Thr327Thr,c.981A>G,synonymous_variant,Benign,55771,,972,1614214,0.0006021506442144597,3,0,amr,0.0018471999999999998,7.60,,0.00,0.0100,-0.442,,,22,75064,0,0,129,60032,0,0,279,29604,3,0,0,44892,0,0,10,64022,0,0,14,6062,0,0,369,1180032,0,0,0,912,0,0,46,91082,0,0,103,62512,0,0 -17-43094551-G-A,17,43094551,rs2154481430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr327Ile,p.Thr327Ile,c.980C>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,18.5,0.561,0.00,0.0300,1.61,0.0800,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094555-C-G,17,43094555,rs773433679,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu326Gln,p.Glu326Gln,c.976G>C,missense_variant,Conflicting interpretations of pathogenicity,801090,,21,1461856,0.000014365300002188999,0,0,sas,0.00015298,23.6,0.741,0.00,0.0100,5.03,0.0100,0.939,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53394,0,0,0,5768,0,0,0,1112008,0,0,,,,,20,86254,0,0,1,60396,0,0 -17-43094556-C-T,17,43094556,rs786201624,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys325Lys,p.Lys325Lys,c.975G>A,synonymous_variant,Likely benign,184694,,16,1614038,0.000009913025591714692,0,0,nfe,0.00000763,8.06,,0.00,0.0100,1.77,,,1,74920,0,0,0,59998,0,0,0,29606,0,0,0,44904,0,0,0,63998,0,0,0,6084,0,0,15,1180040,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 -17-43094559-A-T,17,43094559,rs2154481654,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Arg,p.Ser324Arg,c.972T>A,missense_variant,,,,1,628752,0.000001590452197368756,0,0,,,23.3,0.691,0.00,0.0300,1.92,0.0200,0.677,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53126,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094560-C-T,17,43094560,rs1462728426,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Asn,p.Ser324Asn,c.971G>A,missense_variant,Conflicting interpretations of pathogenicity,481450,,1,628760,0.0000015904319613206948,0,0,,,15.8,0.539,0.00,0.00,3.57,0.200,0.677,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53132,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094560-C-A,17,43094560,rs1462728426,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Ile,p.Ser324Ile,c.971G>T,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,23.3,0.677,0.00,0.00,3.57,0.00,0.985,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53132,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094562-T-A,17,43094562,rs45586033,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly323Gly,p.Gly323Gly,c.969A>T,synonymous_variant,Likely benign,184649,,5,1461866,0.0000034202861274562783,0,0,nfe,8.4e-7,9.86,,0.00,0.0700,0.368,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53404,0,0,0,5768,0,0,4,1112008,0,0,,,,,0,86254,0,0,1,60396,0,0 -17-43094567-C-G,17,43094567,rs80357252,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala322Pro,p.Ala322Pro,c.964G>C,missense_variant,Conflicting interpretations of pathogenicity,55767,,14,1614044,0.000008673865148657658,0,0,afr,0.00001063,19.7,0.670,0.00,0.0100,4.10,0.0300,0.194,3,74928,0,0,0,60004,0,0,0,29606,0,0,0,44898,0,0,0,64020,0,0,0,6084,0,0,11,1180030,0,0,0,910,0,0,0,91080,0,0,0,62484,0,0 -17-43094567-C-T,17,43094567,rs80357252,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala322Thr,p.Ala322Thr,c.964G>A,missense_variant,Conflicting interpretations of pathogenicity,55766,,12,1461866,0.000008208686705895068,0,0,nfe,0.00000575,15.6,0.548,0.00,0.0100,4.10,0.0900,0.0470,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,12,1112006,0,0,,,,,0,86254,0,0,0,60396,0,0 -17-43094569-C-T,17,43094569,rs80357292,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp321Ter,p.Trp321Ter,c.962G>A,stop_gained,Pathogenic,37712,,3,628762,0.000004771280707167418,0,0,nfe,9.5e-7,34.0,,0.00,0.0800,7.09,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69792,0,0,1,33098,0,0 -17-43094574-G-A,17,43094574,rs1057524333,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn319Asn,p.Asn319Asn,c.957C>T,synonymous_variant,Likely benign,392036,,3,628758,0.000004771311060853301,0,0,nfe,0.00000228,9.06,,0.00,0.0500,7.00,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53132,0,0,0,4148,0,0,3,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094575-T-C,17,43094575,rs397507258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn319Ser,p.Asn319Ser,c.956A>G,missense_variant,Conflicting interpretations of pathogenicity,37711,,1,628766,0.0000015904167846225783,0,0,,,2.49,0.417,0.00,0.0300,0.279,1.00,0.00100,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 -17-43094577-A-C,17,43094577,rs1135401826,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Gln,p.His318Gln,c.954T>G,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,7.00,0.488,0.00,-0.0100,0.983,1.00,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094577-A-T,17,43094577,rs1135401826,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Gln,p.His318Gln,c.954T>A,missense_variant,Conflicting interpretations of pathogenicity,431184,,1,1461876,6.840525461803874e-7,0,0,,,6.86,0.488,0.00,-0.0100,0.983,1.00,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094578-T-G,17,43094578,rs776278453,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Pro,p.His318Pro,c.953A>C,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,22.0,0.556,0.00,0.00,1.79,0.0200,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094578-T-C,17,43094578,rs776278453,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Arg,p.His318Arg,c.953A>G,missense_variant,Conflicting interpretations of pathogenicity,569329,,6,1461876,0.000004104315277082324,0,0,sas,0.000021940000000000003,20.7,0.508,0.00,0.0100,1.79,0.0400,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,5,86254,0,0,0,60394,0,0 -17-43094580-T-C,17,43094580,rs759419385,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln317Gln,p.Gln317Gln,c.951A>G,synonymous_variant,Likely benign,219860,,3,1461874,0.000002052160446112319,0,0,eas,0.00000835,6.59,,0.00,0.0100,-1.78,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53416,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094583-G-T,17,43094583,rs1555592782,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser316Arg,p.Ser316Arg,c.948C>A,missense_variant,Conflicting interpretations of pathogenicity,1303010,,3,628756,0.00000477132623784107,0,0,,,24.8,0.756,0.00,0.0100,6.97,0.0200,0.882,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69792,0,0,2,33096,0,0 -17-43094584-C-T,17,43094584,rs1465372282,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser316Asn,p.Ser316Asn,c.947G>A,missense_variant,Conflicting interpretations of pathogenicity,441333,,4,1461870,0.000002736221415036905,0,0,sas,0.000015830000000000003,18.9,0.543,0.00,0.00,3.55,0.0600,0.994,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,0,1112008,0,0,,,,,4,86254,0,0,0,60394,0,0 -17-43094585-T-C,17,43094585,rs55874646,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser316Gly,p.Ser316Gly,c.946A>G,missense_variant,Benign,37709,,60,1614080,0.000037172878667724025,0,0,nfe,0.00003774,24.2,0.751,0.00,0.0600,2.92,0.0100,0.991,2,74944,0,0,0,60004,0,0,0,29606,0,0,0,44900,0,0,0,64028,0,0,0,6084,0,0,57,1180034,0,0,0,912,0,0,0,91086,0,0,1,62482,0,0 -17-43094588-T-C,17,43094588,rs80357050,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg315Gly,p.Arg315Gly,c.943A>G,missense_variant,Conflicting interpretations of pathogenicity,55761,,1,628764,0.0000015904218434897671,0,0,,,22.0,0.607,0.00,0.0500,1.05,0.0200,0.285,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094590-G-A,17,43094590,rs863224766,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala314Val,p.Ala314Val,c.941C>T,missense_variant,Conflicting interpretations of pathogenicity,216676,,1,833110,0.0000012003216862119048,0,0,,,18.4,0.612,0.00,0.0400,0.746,0.0300,0.259,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094591-C-T,17,43094591,rs1597879004,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala314Thr,p.Ala314Thr,c.940G>A,missense_variant,,,,1,152276,0.000006567023037116814,0,0,,,14.9,0.660,0.00,0.0100,1.02,,,0,41574,0,0,0,15292,0,0,0,3472,0,0,0,5186,0,0,0,10598,0,0,0,294,0,0,0,68012,0,0,0,910,0,0,1,4826,0,0,0,2112,0,0 -17-43094594-A-G,17,43094594,rs1131692072,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu313Leu,p.Leu313Leu,c.937T>C,synonymous_variant,Likely benign,427257,,2,628768,0.0000031808234515751436,0,0,nfe,9.5e-7,9.31,,0.00,0.00,0.345,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094597-C-T,17,43094597,rs752715574,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly312Ser,p.Gly312Ser,c.934G>A,missense_variant,,,,1,152126,0.000006573498284316948,0,0,,,22.9,0.678,0.00,0.0500,2.51,0.0200,0.598,0,41416,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,1,68018,0,0,0,910,0,0,0,4826,0,0,0,2090,0,0 -17-43094597-C-A,17,43094597,rs752715574,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly312Cys,p.Gly312Cys,c.934G>T,missense_variant,,,,1,628766,0.0000015904167846225783,0,0,,,24.6,0.699,0.00,0.0100,2.51,0.00,0.977,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094598-AG-A,17,43094598,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311LeufsTer3,p.Pro311LeufsTer3,c.932del,frameshift_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,24.4,,0.00,0.0300,2.27,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094599-G-A,17,43094599,rs1301795658,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311Leu,p.Pro311Leu,c.932C>T,missense_variant,Conflicting interpretations of pathogenicity,628645,,3,1461868,0.0000020521688688718817,0,0,amr,0.000007410000000000001,22.4,0.495,0.00,0.0100,4.15,0.0300,0.704,1,33480,0,0,2,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094599-G-C,17,43094599,rs1301795658,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311Arg,p.Pro311Arg,c.932C>G,missense_variant,Conflicting interpretations of pathogenicity,1686513,,1,1461868,6.840562896239606e-7,0,0,,,22.0,0.552,0.00,0.00,4.15,0.0300,0.814,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 -17-43094600-GC-G,17,43094600,rs80357689,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310HisfsTer4,p.Gln310HisfsTer4,c.930del,frameshift_variant,Pathogenic,55759,,2,628754,0.0000031808942766169283,0,0,nfe,9.5e-7,24.3,,0.00,-0.0400,2.19,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53140,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43094601-CT-C,17,43094601,rs80357844,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310ArgfsTer4,p.Gln310ArgfsTer4,c.929del,frameshift_variant,Pathogenic,37708,,3,833108,0.0000036009737032893692,0,0,nfe,0.00000105,25.1,,0.00,0.0300,3.63,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094602-T-G,17,43094602,rs1597879098,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310Pro,p.Gln310Pro,c.929A>C,missense_variant,Conflicting interpretations of pathogenicity,655576,,1,833100,0.0000012003360941063497,0,0,,,24.1,0.679,0.00,0.00,4.71,0.0300,0.880,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,1,16460,0,0,0,27298,0,0 -17-43094603-G-A,17,43094603,rs397509338,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310Ter,p.Gln310Ter,c.928C>T,stop_gained,Pathogenic,55758,,1,833108,0.0000012003245677631232,0,0,,,35.0,,0.00,0.0700,8.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094604-T-C,17,43094604,rs757936216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys309Lys,p.Lys309Lys,c.927A>G,synonymous_variant,Likely benign,184110,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,9.81,,0.00,0.00,0.825,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,6,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094605-T-G,17,43094605,rs80356877,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys309Thr,p.Lys309Thr,c.926A>C,missense_variant,Conflicting interpretations of pathogenicity,55756,,1,628766,0.0000015904167846225783,0,0,,,25.0,0.732,0.00,0.0100,2.98,0.00,0.994,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094606-T-C,17,43094606,rs879255498,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys309Glu,p.Lys309Glu,c.925A>G,missense_variant,Conflicting interpretations of pathogenicity,252893,,2,780978,0.0000025608916000194626,0,0,,,22.1,0.733,0.00,0.00,0.737,0.130,0.831,1,59166,0,0,1,59022,0,0,0,24452,0,0,0,41264,0,0,0,63762,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74620,0,0,0,35186,0,0 -17-43094607-G-T,17,43094607,rs1555592819,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser308Arg,p.Ser308Arg,c.924C>A,missense_variant,,,,2,1461874,0.0000013681069640748791,0,0,sas,0.00000385,24.4,0.692,0.00,0.00,5.85,0.00,0.994,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,0,1112006,0,0,,,,,2,86254,0,0,0,60394,0,0 -17-43094607-G-A,17,43094607,rs1555592819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser308Ser,p.Ser308Ser,c.924C>T,synonymous_variant,Uncertain significance,482944,,3,1461874,0.000002052160446112319,0,0,nfe,2.999999999999999e-7,11.0,,0.00,0.0100,5.85,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53418,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094608-C-G,17,43094608,rs561998108,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser308Thr,p.Ser308Thr,c.923G>C,missense_variant,Conflicting interpretations of pathogenicity,182129,,5,1614132,0.0000030976400938708852,0,0,afr,0.00001061,22.6,0.723,0.00,0.00,3.03,0.00,0.893,3,75054,0,0,0,60008,0,0,0,29604,0,0,0,44886,0,0,0,64002,0,0,0,6062,0,0,0,1180020,0,0,0,912,0,0,0,91078,0,0,2,62506,0,0 -17-43094615-T-C,17,43094615,rs1264744701,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn306Asp,p.Asn306Asp,c.916A>G,missense_variant,Conflicting interpretations of pathogenicity,2131600,,1,628764,0.0000015904218434897671,0,0,,,15.3,0.435,0.00,0.00,-0.100,0.190,0.566,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094616-A-G,17,43094616,rs2154485509,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Cys,p.Cys305Cys,c.915T>C,synonymous_variant,Likely benign,1649738,,1,833110,0.0000012003216862119048,0,0,,,12.8,,0.00,0.0100,3.72,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094617-C-T,17,43094617,rs751124745,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Tyr,p.Cys305Tyr,c.914G>A,missense_variant,Conflicting interpretations of pathogenicity,229918,,1,1461874,6.840534820374396e-7,0,0,,,19.0,0.607,0.00,0.00,3.52,0.100,0.659,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094617-C-A,17,43094617,rs751124745,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Phe,p.Cys305Phe,c.914G>T,missense_variant,Conflicting interpretations of pathogenicity,823049,,11,1461874,0.000007524588302411836,0,0,nfe,0.00000455,23.8,0.694,0.00,0.00,3.52,0.0200,0.959,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,10,1112008,0,0,,,,,0,86254,0,0,1,60394,0,0 -17-43094618-A-G,17,43094618,rs1597879229,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Arg,p.Cys305Arg,c.913T>C,missense_variant,Conflicting interpretations of pathogenicity,928767,,1,628766,0.0000015904167846225783,0,0,,,24.5,0.697,0.00,0.00,2.30,0.0300,0.833,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094620-A-G,17,43094620,rs1426681028,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Phe304Ser,p.Phe304Ser,c.911T>C,missense_variant,,,,1,152142,0.000006572806982950139,0,0,,,24.0,0.621,0.00,0.00,3.60,,,0,41432,0,0,0,15268,0,0,0,3468,0,0,1,5196,0,0,0,10610,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4822,0,0,0,2092,0,0 -17-43094621-A-T,17,43094621,rs1567801570,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe304Ile,p.Phe304Ile,c.910T>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,20.8,0.559,0.00,0.00,1.38,0.0300,0.566,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094626-G-A,17,43094626,rs1418676444,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala302Val,p.Ala302Val,c.905C>T,missense_variant,Conflicting interpretations of pathogenicity,1035776,,1,152062,0.000006576264944562087,0,0,,,25.0,0.638,0.00,0.0400,7.04,,,0,41388,0,0,0,15254,0,0,0,3468,0,0,0,5194,0,0,0,10592,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4820,0,0,0,2094,0,0 -17-43094629-T-C,17,43094629,rs878854965,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys301Arg,p.Lys301Arg,c.902A>G,missense_variant,Conflicting interpretations of pathogenicity,240831,,1,628768,0.0000015904117257875718,0,0,,,25.3,0.719,0.00,0.0500,2.90,0.0200,0.992,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69792,0,0,1,33096,0,0 -17-43094630-T-C,17,43094630,rs756859863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys301Glu,p.Lys301Glu,c.901A>G,missense_variant,Conflicting interpretations of pathogenicity,1394854,,1,628766,0.0000015904167846225783,0,0,,,23.7,0.749,0.00,0.0100,6.36,0.0400,0.831,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094631-T-G,17,43094631,rs80356861,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu300Asp,p.Glu300Asp,c.900A>C,missense_variant,Conflicting interpretations of pathogenicity,55747,,4,1461874,0.0000027362139281497583,0,0,nfe,8.4e-7,24.6,0.745,0.00,0.00,2.34,0.0200,0.994,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,4,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094634-TAC-T,17,43094634,rs80357670,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val299ArgfsTer4,p.Val299ArgfsTer4,c.895_896del,frameshift_variant,Pathogenic,55744,,1,628764,0.0000015904218434897671,0,0,,,24.8,,0.00,0.0300,2.94,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094636-C-A,17,43094636,rs780952576,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val299Leu,p.Val299Leu,c.895G>T,missense_variant,,,,1,628758,0.0000015904370202844338,0,0,,,23.8,0.701,0.00,0.0100,7.14,0.00,0.912,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69792,0,0,0,33096,0,0 -17-43094637-A-G,17,43094637,rs1597879373,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Asn,p.Asn298Asn,c.894T>C,synonymous_variant,Conflicting interpretations of pathogenicity,801089,,1,628762,0.0000015904269023891392,0,0,,,10.8,,0.00,0.0100,3.64,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 -17-43094638-T-C,17,43094638,rs749593365,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Ser,p.Asn298Ser,c.893A>G,missense_variant,,,,2,628764,0.0000031808436869795343,0,0,sas,0.00000476,22.6,0.589,0.00,0.0300,2.35,0.120,0.780,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,2,69794,0,0,0,33096,0,0 -17-43094639-T-C,17,43094639,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Asp,p.Asn298Asp,c.892A>G,missense_variant,,,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,16.7,0.391,0.00,0.0100,0.385,0.360,0.562,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094640-C-T,17,43094640,rs80357103,C,T,gnomAD Genomes,NA,PASS,ENST00000497488.1,p.Met1?,p.Met1?,c.3G>A,start_lost,Benign,55743,,3,152168,0.000019715051784869355,0,0,afr,0.0000192,18.5,0.593,0.00,0.0300,3.58,0.0500,0.0600,3,41432,0,0,0,15268,0,0,0,3472,0,0,0,5190,0,0,0,10618,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43094641-A-T,17,43094641,rs80356924,A,T,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.2T>A,start_lost,Conflicting interpretations of pathogenicity,55742,,1,628766,0.0000015904167846225783,0,0,,,22.5,0.637,0.00,0.00,0.686,0.0100,0.0600,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43094642-T-C,17,43094642,rs80357196,T,C,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.1A>G,start_lost,Conflicting interpretations of pathogenicity,142628,,2,1461874,0.0000013681069640748791,0,0,,,17.4,0.579,0.00,0.00,0.161,0.0200,0.0410,0,33480,0,0,0,44722,0,0,0,26134,0,0,1,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094642-T-G,17,43094642,rs80357196,T,G,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.1A>C,start_lost,Conflicting interpretations of pathogenicity,55741,,1,1461874,6.840534820374396e-7,0,0,,,15.0,0.502,0.00,0.00,0.161,0.120,0.00700,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 -17-43094645-T-C,17,43094645,rs748675395,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg296Gly,p.Arg296Gly,c.886A>G,missense_variant,Conflicting interpretations of pathogenicity,431183,,8,1614094,0.0000049563408326900415,0,0,nfe,0.00000292,25.2,0.656,0.00,0.0100,1.82,0.0100,0.414,0,74952,0,0,0,59994,0,0,0,29604,0,0,0,44894,0,0,0,64044,0,0,0,6084,0,0,8,1180044,0,0,0,912,0,0,0,91084,0,0,0,62482,0,0 -17-43094645-T-G,17,43094645,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg296Arg,p.Arg296Arg,c.886A>C,synonymous_variant,,,,1,1461864,6.840581613611115e-7,0,0,,,12.4,,0.00,0.0100,1.82,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43094647-T-C,17,43094647,rs772684048,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp295Gly,p.Asp295Gly,c.884A>G,missense_variant,Conflicting interpretations of pathogenicity,233188,,42,1461868,0.000028730364164206343,1,0,sas,0.0003695400000000001,23.0,0.605,0.00,0.0100,3.73,0.0300,0.323,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112006,0,0,,,,,42,86252,1,0,0,60392,0,0 -17-43094650-T-C,17,43094650,rs1555592934,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys294Arg,p.Lys294Arg,c.881A>G,missense_variant,Conflicting interpretations of pathogenicity,531293,,1,628756,0.0000015904420792803568,0,0,,,24.8,0.655,0.00,-0.0400,2.33,0.0300,0.285,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36066,0,0,0,53144,0,0,0,4146,0,0,0,350102,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43094652-A-C,17,43094652,rs139433219,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr293Thr,p.Thr293Thr,c.879T>G,synonymous_variant,Likely benign,427356,,3,780840,0.00000384201629014907,0,0,afr,0.00000561,9.92,,0.00,0.00,0.974,,,2,59096,0,0,0,58996,0,0,0,24454,0,0,0,41252,0,0,0,63734,0,0,0,4464,0,0,0,418120,0,0,0,912,0,0,0,74630,0,0,1,35182,0,0 -17-43094653-G-C,17,43094653,rs747172803,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr293Ser,p.Thr293Ser,c.878C>G,missense_variant,Conflicting interpretations of pathogenicity,570469,,20,1613932,0.0000123920958255986,1,0,sas,0.00013602999999999998,22.2,0.583,0.00,0.0100,4.17,0.170,0.780,0,74874,0,0,0,59982,0,0,0,29606,0,0,0,44888,0,0,0,63992,0,0,0,6084,0,0,0,1180024,0,0,0,912,0,0,19,91086,1,0,1,62484,0,0 -17-43094653-G-A,17,43094653,rs747172803,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr293Ile,p.Thr293Ile,c.878C>T,missense_variant,Conflicting interpretations of pathogenicity,491193,,1,1461858,6.840609689860438e-7,0,0,,,23.6,0.631,0.00,0.0100,4.17,0.0400,0.677,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86254,0,0,0,60392,0,0 -17-43094654-T-C,17,43094654,rs1555592945,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr293Ala,p.Thr293Ala,c.877A>G,missense_variant,,,,1,628754,0.0000015904471383084641,0,0,,,23.9,0.591,0.00,0.00,2.28,0.0400,0.677,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43094655-G-A,17,43094655,rs771001707,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu292Leu,p.Leu292Leu,c.876C>T,synonymous_variant,Likely benign,427344,,1,628750,0.0000015904572564612325,0,0,,,10.0,,0.00,0.0200,5.87,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69790,0,0,0,33094,0,0 -17-43094658-T-C,17,43094658,rs2154488173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu291Leu,p.Leu291Leu,c.873A>G,synonymous_variant,,,,1,1461852,6.840637766340232e-7,0,0,,,7.95,,0.00,0.00,0.174,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5766,0,0,1,1111998,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43094660-A-C,17,43094660,rs1209004897,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu291Val,p.Leu291Val,c.871T>G,missense_variant,Conflicting interpretations of pathogenicity,1764447,,1,152158,0.000006572115826969334,0,0,,,24.4,0.731,0.00,0.0300,1.93,,,0,41438,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10606,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43094661-T-A,17,43094661,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu290Phe,p.Leu290Phe,c.870A>T,missense_variant,,,,1,628748,0.0000015904623155858944,0,0,,,24.4,0.687,0.00,-0.0100,1.03,0.0100,0.831,0,17690,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43094665-C-T,17,43094665,rs776999497,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser289Asn,p.Ser289Asn,c.866G>A,missense_variant,Conflicting interpretations of pathogenicity,441442,,2,628720,0.000003181066293421555,0,0,,,23.9,0.603,0.00,0.0100,2.47,0.0300,0.566,1,17688,0,0,0,43730,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43094667-G-T,17,43094667,rs759366409,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser288Arg,p.Ser288Arg,c.864C>A,missense_variant,,,,1,628700,0.0000015905837442341339,0,0,,,23.1,0.594,0.00,0.0100,5.54,0.0300,0.566,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,1,350072,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43094673-C-T,17,43094673,rs2054034679,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu286Glu,p.Glu286Glu,c.858G>A,synonymous_variant,Likely benign,1104640,,2,628676,0.0000031812889310232935,0,0,nfe,9.5e-7,8.73,,0.00,0.00,2.37,,,0,17686,0,0,0,43722,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,2,350056,0,0,,,,,0,69790,0,0,0,33090,0,0 -17-43094675-C-T,17,43094675,rs886037980,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu286Lys,p.Glu286Lys,c.856G>A,missense_variant,,,,1,628660,0.0000015906849489390132,0,0,,,17.3,0.677,0.00,0.0300,2.37,0.140,0.323,1,17686,0,0,0,43730,0,0,0,20978,0,0,0,36064,0,0,0,53136,0,0,0,4146,0,0,0,350046,0,0,,,,,0,69782,0,0,0,33092,0,0 -17-43094676-A-T,17,43094676,rs1345896191,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His285Gln,p.His285Gln,c.855T>A,missense_variant,,,,1,628674,0.0000015906495258273763,0,0,,,16.3,0.568,0.00,0.00,0.260,0.100,0.596,0,17686,0,0,0,43730,0,0,0,20976,0,0,0,36064,0,0,0,53138,0,0,0,4146,0,0,1,350046,0,0,,,,,0,69796,0,0,0,33092,0,0 -17-43094677-T-C,17,43094677,rs2154489161,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His285Arg,p.His285Arg,c.854A>G,missense_variant,Conflicting interpretations of pathogenicity,1479741,,3,1461790,0.0000020522783710382476,0,0,sas,0.00000385,8.31,0.525,0.0200,0.0100,-0.268,0.320,0.465,0,33472,0,0,0,44712,0,0,0,26130,0,0,0,39694,0,0,0,53414,0,0,0,5766,0,0,1,1111958,0,0,,,,,2,86256,0,0,0,60388,0,0 -17-43094679-C-G,17,43094679,rs1597879571,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284His,p.Gln284His,c.852G>C,missense_variant,Conflicting interpretations of pathogenicity,822538,,5,628556,0.000007954740707271906,0,0,eas,0.00005409999999999997,24.3,0.607,0.00,-0.0200,5.04,0.0200,0.365,0,17684,0,0,0,43716,0,0,0,20976,0,0,5,36064,0,0,0,53136,0,0,0,4146,0,0,0,349962,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43094680-T-TGTAATGA,17,43094680,rs80357989,T,TGTAATGA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284LeufsTer5,p.Gln284LeufsTer5,c.844_850dup,frameshift_variant,Pathogenic,55735,,1,1461682,6.84143336238662e-7,0,0,,,24.4,,0.0100,0.0700,1.02,,,0,33470,0,0,0,44702,0,0,0,26128,0,0,0,39694,0,0,0,53410,0,0,0,5766,0,0,1,1111882,0,0,,,,,0,86250,0,0,0,60380,0,0 -17-43094680-T-C,17,43094680,rs80357039,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284Arg,p.Gln284Arg,c.851A>G,missense_variant,Conflicting interpretations of pathogenicity,55739,,2,1461682,0.000001368286672477324,0,0,,,21.0,0.595,0.00,0.00,1.02,0.0600,0.213,0,33470,0,0,0,44702,0,0,0,26128,0,0,0,39694,0,0,0,53410,0,0,1,5766,0,0,0,1111882,0,0,,,,,0,86250,0,0,1,60380,0,0 -17-43094682-T-C,17,43094682,rs1567801796,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu283Leu,p.Leu283Leu,c.849A>G,synonymous_variant,Likely benign,1610957,,1,628572,0.000001590907644629414,0,0,,,10.9,,0.00,0.00,2.34,,,0,17682,0,0,1,43722,0,0,0,20974,0,0,0,36062,0,0,0,53132,0,0,0,4146,0,0,0,349982,0,0,,,,,0,69790,0,0,0,33082,0,0 -17-43094684-ATGAG-A,17,43094684,rs80357919,ATGAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282TyrfsTer15,p.Ser282TyrfsTer15,c.843_846del,frameshift_variant,Pathogenic,17683,,1,628368,0.0000015914241336287016,0,0,,,27.9,,0.00,-0.0400,2.28,,,0,17666,0,0,0,43702,0,0,0,20972,0,0,0,36064,0,0,0,53132,0,0,0,4146,0,0,1,349824,0,0,,,,,0,69788,0,0,0,33074,0,0 -17-43094685-T-A,17,43094685,rs1220045136,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282Ser,p.Ser282Ser,c.846A>T,synonymous_variant,Likely benign,1763483,,2,1461464,0.0000013684907736352042,0,0,,,9.12,,0.00,0.00,0.162,,,0,33450,0,0,1,44688,0,0,0,26124,0,0,0,39694,0,0,0,53408,0,0,0,5766,0,0,1,1111718,0,0,,,,,0,86246,0,0,0,60370,0,0 -17-43094687-A-G,17,43094687,rs2054037292,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282Pro,p.Ser282Pro,c.844T>C,missense_variant,Conflicting interpretations of pathogenicity,964205,,1,833106,0.0000012003274493281767,0,0,,,26.4,0.721,0.00,-0.0100,4.72,0.00,0.996,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094690-T-A,17,43094690,rs1300771163,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser281Cys,p.Ser281Cys,c.841A>T,missense_variant,Uncertain significance,2450671,,1,628126,0.0000015920372664083322,0,0,,,25.7,0.649,0.00,0.0300,3.61,0.00,0.984,0,17648,0,0,1,43670,0,0,0,20970,0,0,0,36060,0,0,0,53130,0,0,0,4146,0,0,0,349656,0,0,,,,,0,69780,0,0,0,33066,0,0 -17-43094692-G-C,17,43094692,rs80357199,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala280Gly,p.Ala280Gly,c.839C>G,missense_variant,Benign,55731,,38,780138,0.000048709330913248684,0,0,amr,0.0004825600000000001,25.7,0.643,0.00,-0.0100,6.99,0.0100,0.831,0,59038,0,0,38,58926,0,0,0,24434,0,0,0,41260,0,0,0,63708,0,0,0,4462,0,0,0,417664,0,0,0,912,0,0,0,74582,0,0,0,35152,0,0 -17-43094694-A-G,17,43094694,rs775477245,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His279His,p.His279His,c.837T>C,synonymous_variant,Likely benign,224429,,7,780252,0.00000897146050250432,0,0,eas,0.00007922999999999997,9.50,,0.00,0.00,1.31,,,0,59074,0,0,0,58932,0,0,0,24434,0,0,7,41260,0,0,0,63728,0,0,0,4462,0,0,0,417696,0,0,0,912,0,0,0,74598,0,0,0,35156,0,0 -17-43094695-T-C,17,43094695,rs80357482,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His279Arg,p.His279Arg,c.836A>G,missense_variant,Conflicting interpretations of pathogenicity,55730,,1,1461028,6.844495793372885e-7,0,0,,,12.9,0.506,0.00,0.00,-1.39,0.360,0.348,0,33432,0,0,0,44638,0,0,0,26116,0,0,0,39688,0,0,0,53404,0,0,0,5764,0,0,1,1111424,0,0,,,,,0,86220,0,0,0,60342,0,0 -17-43094696-G-C,17,43094696,rs1380919500,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His279Asp,p.His279Asp,c.835C>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,23.1,0.541,0.00,0.0100,4.19,0.0100,0.979,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094696-G-A,17,43094696,rs1380919500,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His279Tyr,p.His279Tyr,c.835C>T,missense_variant,Conflicting interpretations of pathogenicity,659023,,1,152126,0.000006573498284316948,0,0,,,22.9,0.520,0.0200,0.0100,4.19,,,0,41408,0,0,0,15264,0,0,0,3470,0,0,1,5194,0,0,0,10604,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43094697-A-C,17,43094697,rs762956862,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr278Thr,p.Thr278Thr,c.834T>G,synonymous_variant,Likely benign,184380,,2,1461100,0.0000013688317021422216,0,0,,,10.6,,0.00,0.00,2.31,,,0,33430,0,0,0,44650,0,0,0,26116,0,0,1,39690,0,0,0,53408,0,0,0,5762,0,0,0,1111472,0,0,,,,,0,86220,0,0,1,60352,0,0 -17-43094698-G-A,17,43094698,rs2154490731,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr278Ile,p.Thr278Ile,c.833C>T,missense_variant,Conflicting interpretations of pathogenicity,1442869,,1,627694,0.0000015931329596905498,0,0,,,17.8,0.500,0.00,0.00,1.76,0.180,0.465,0,17634,0,0,0,43638,0,0,0,20956,0,0,0,36058,0,0,0,53124,0,0,0,4144,0,0,1,349334,0,0,,,,,0,69758,0,0,0,33048,0,0 -17-43094703-T-C,17,43094703,rs186274774,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276Thr,p.Thr276Thr,c.828A>G,synonymous_variant,Likely benign,184319,,45,1612746,0.00002790271995714142,0,0,afr,0.00043673000000000014,10.8,,0.00,0.0100,0.0470,,,43,74976,0,0,0,59876,0,0,0,29576,0,0,0,44876,0,0,0,64000,0,0,0,6058,0,0,0,1179010,0,0,0,912,0,0,0,91016,0,0,2,62446,0,0 -17-43094704-G-C,17,43094704,rs80357436,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276Arg,p.Thr276Arg,c.827C>G,missense_variant,Benign,37706,,22,1612390,0.000013644341629506509,0,0,nfe,0.00001145,17.5,0.708,0.00,0.0100,2.89,0.150,0.844,0,74776,0,0,0,59844,0,0,0,29574,0,0,0,44872,0,0,1,63950,0,0,0,6080,0,0,21,1178946,0,0,0,912,0,0,0,91010,0,0,0,62426,0,0 -17-43094704-G-T,17,43094704,rs80357436,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr276Lys,p.Thr276Lys,c.827C>A,missense_variant,Conflicting interpretations of pathogenicity,252891,,1,151990,0.000006579380222383052,0,0,,,21.8,0.613,0.00,0.0200,2.89,,,0,41370,0,0,0,15248,0,0,0,3470,0,0,0,5186,0,0,0,10570,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4806,0,0,0,2092,0,0 -17-43094706-G-A,17,43094706,rs397509328,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Gly,p.Gly275Gly,c.825C>T,synonymous_variant,Likely benign,55727,,73,1612298,0.000045276989737629145,0,0,eas,0.00005789999999999997,10.3,,0.0200,0.0400,4.90,,,0,74882,0,0,0,59836,0,0,0,29568,0,0,6,44860,0,0,0,63936,0,0,0,6058,0,0,65,1178824,0,0,0,910,0,0,0,91000,0,0,2,62424,0,0 -17-43094706-G-GCCACATGGCT,17,43094706,rs387906563,G,GCCACATGGCT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276AlafsTer14,p.Thr276AlafsTer14,c.815_824dup,frameshift_variant,Pathogenic,55723,,9,1612180,0.000005582503194432383,0,0,afr,0.000025540000000000003,25.2,,0.00,0.0400,4.90,,,5,74760,0,0,3,59816,0,0,0,29568,0,0,0,44872,0,0,0,63936,0,0,0,6080,0,0,0,1178832,0,0,0,910,0,0,0,91004,0,0,1,62402,0,0 -17-43094706-G-C,17,43094706,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly275Gly,p.Gly275Gly,c.825C>G,synonymous_variant,,,,1,1460240,6.848189338738837e-7,0,0,,,9.90,,0.0200,0.0600,4.90,,,1,33400,0,0,0,44580,0,0,0,26098,0,0,0,39684,0,0,0,53378,0,0,0,5764,0,0,0,1110830,0,0,,,,,0,86194,0,0,0,60312,0,0 -17-43094707-C-T,17,43094707,rs397509327,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Asp,p.Gly275Asp,c.824G>A,missense_variant,Benign,55726,,57,1611772,0.00003536480345855369,0,0,eas,0.0010070299999999997,22.8,0.691,0.00,0.0200,4.26,0.150,0.994,0,74876,0,0,0,59770,0,0,0,29530,0,0,57,44852,0,0,0,63942,0,0,0,6052,0,0,0,1178478,0,0,0,912,0,0,0,90958,0,0,0,62402,0,0 -17-43094708-C-T,17,43094708,rs8176153,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Ser,p.Gly275Ser,c.823G>A,missense_variant,Benign,55725,,461,1611784,0.00028601847393943606,5,0,sas,0.00453709,25.0,0.657,0.0600,0.0600,7.13,0.0100,0.927,0,74866,0,0,0,59778,0,0,0,29538,0,0,0,44854,0,0,0,63926,0,0,0,6054,0,0,1,1178474,0,0,0,912,0,0,447,90966,5,0,13,62416,0,0 -17-43094711-A-C,17,43094711,rs755285181,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys274Gly,p.Cys274Gly,c.820T>G,missense_variant,,,,1,626708,0.0000015956394365478022,0,0,,,24.8,0.535,0.00,-0.0200,2.92,0.00,0.990,0,17584,0,0,0,43550,0,0,0,20928,0,0,0,36044,0,0,0,53088,0,0,0,4142,0,0,1,348642,0,0,,,,,0,69726,0,0,0,33004,0,0 -17-43094712-T-C,17,43094712,rs779225364,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro273Pro,p.Pro273Pro,c.819A>G,synonymous_variant,Likely benign,427325,,1,626766,0.0000015954917784308658,0,0,,,11.8,,0.00,0.0100,-0.238,,,0,17588,0,0,0,43556,0,0,0,20934,0,0,1,36044,0,0,0,53094,0,0,0,4140,0,0,0,348674,0,0,,,,,0,69726,0,0,0,33010,0,0 -17-43094714-G-A,17,43094714,rs1597879824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro273Ser,p.Pro273Ser,c.817C>T,missense_variant,Conflicting interpretations of pathogenicity,801088,,1,626550,0.0000015960418162955869,0,0,,,25.2,0.593,0.0200,0.0400,7.02,0.00,0.992,0,17586,0,0,0,43542,0,0,0,20932,0,0,0,36040,0,0,0,53098,0,0,1,4140,0,0,0,348510,0,0,,,,,0,69692,0,0,0,33010,0,0 -17-43094716-T-C,17,43094716,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu272Gly,p.Glu272Gly,c.815A>G,missense_variant,,,,2,626566,0.0000031920021194894074,0,0,eas,0.00000919,27.5,0.609,0.190,0.110,6.36,0.00,0.993,0,17586,0,0,0,43540,0,0,0,20920,0,0,2,36036,0,0,0,53092,0,0,0,4140,0,0,0,348550,0,0,,,,,0,69704,0,0,0,32998,0,0 -17-43094717-C-T,17,43094717,rs886040321,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu272Lys,p.Glu272Lys,c.814G>A,missense_variant,Conflicting interpretations of pathogenicity,2128795,,1,626470,0.000001596245630277587,0,0,,,23.8,0.534,0.0100,0.0400,5.99,0.180,0.878,0,17588,0,0,0,43542,0,0,0,20920,0,0,1,36036,0,0,0,53086,0,0,0,4140,0,0,0,348460,0,0,,,,,0,69692,0,0,0,33006,0,0 -17-43094718-C-T,17,43094718,rs2054043820,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Val,p.Val271Val,c.813G>A,synonymous_variant,Likely benign,934452,,2,1459564,0.0000013702722182788833,0,0,nfe,2.999999999999999e-7,11.0,,0.0900,0.110,5.93,,,0,33364,0,0,0,44518,0,0,0,26068,0,0,0,39666,0,0,0,53372,0,0,0,5758,0,0,2,1110356,0,0,,,,,0,86164,0,0,0,60298,0,0 -17-43094719-A-C,17,43094719,rs753099787,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Gly,p.Val271Gly,c.812T>G,missense_variant,Conflicting interpretations of pathogenicity,252383,,1,626544,0.0000015960571005388289,0,0,,,23.0,0.656,0.0800,0.0500,0.990,0.00,0.414,0,17578,0,0,0,43554,0,0,0,20924,0,0,0,36038,0,0,0,53086,0,0,0,4136,0,0,1,348520,0,0,,,,,0,69712,0,0,0,32996,0,0 -17-43094720-C-T,17,43094720,rs80357244,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val271Met,p.Val271Met,c.811G>A,missense_variant,Conflicting interpretations of pathogenicity,55720,,88,1611680,0.0000546014097091234,0,0,eas,0.0016300999999999996,21.4,0.559,0.00,0.0200,2.52,0.120,0.688,0,74904,0,0,0,59802,0,0,0,29524,0,0,88,44860,0,0,0,63944,0,0,0,6052,0,0,0,1178318,0,0,0,912,0,0,0,90952,0,0,0,62412,0,0 -17-43094720-C-G,17,43094720,rs80357244,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Leu,p.Val271Leu,c.811G>C,missense_variant,Conflicting interpretations of pathogenicity,55721,,4,1459460,0.0000027407397256519535,0,0,nfe,8.4e-7,22.7,0.568,0.00,0.00,2.52,0.0100,0.770,0,33358,0,0,0,44530,0,0,0,26054,0,0,0,39668,0,0,0,53360,0,0,0,5758,0,0,4,1110294,0,0,,,,,0,86140,0,0,0,60298,0,0 -17-43094721-AT-A,17,43094721,rs80357965,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His270LeufsTer28,p.His270LeufsTer28,c.809del,frameshift_variant,Pathogenic,55714,,1,1459536,6.851492529132547e-7,0,0,,,23.2,,0.00,-0.0600,1.03,,,0,33352,0,0,0,44526,0,0,0,26064,0,0,0,39664,0,0,0,53368,0,0,0,5756,0,0,0,1110354,0,0,,,,,0,86154,0,0,1,60298,0,0 -17-43094721-A-G,17,43094721,rs778359104,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His270His,p.His270His,c.810T>C,synonymous_variant,Likely benign,427327,,11,1611640,0.0000068253456106822865,0,0,nfe,0.00000501,8.13,,0.00,0.00,1.03,,,0,74784,0,0,0,59774,0,0,0,29534,0,0,0,44868,0,0,0,63976,0,0,0,6072,0,0,11,1178370,0,0,0,912,0,0,0,90962,0,0,0,62388,0,0 -17-43094724-C-T,17,43094724,rs149867679,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu269Leu,p.Leu269Leu,c.807G>A,synonymous_variant,Benign,136540,,77,1611378,0.00004778518758478768,0,0,afr,0.0006748500000000002,7.75,,0.00,0.0300,2.38,,,63,74880,0,0,9,59780,0,0,0,29500,0,0,0,44854,0,0,0,63956,0,0,0,6052,0,0,0,1178146,0,0,0,912,0,0,1,90900,0,0,4,62398,0,0 -17-43094724-C-A,17,43094724,rs149867679,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu269Phe,p.Leu269Phe,c.807G>T,missense_variant,,,,1,1459194,6.853098354296961e-7,0,0,,,14.9,0.524,0.00,0.0800,2.38,0.0900,0.167,0,33354,0,0,0,44510,0,0,0,26028,0,0,0,39670,0,0,0,53362,0,0,0,5758,0,0,0,1110140,0,0,,,,,1,86088,0,0,0,60284,0,0 -17-43094725-A-G,17,43094725,rs2154492047,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu269Ser,p.Leu269Ser,c.806T>C,missense_variant,,,,2,1459418,0.0000013704093001456745,0,0,nfe,2.999999999999999e-7,23.5,0.589,0.00,0.00,1.33,0.0700,0.939,0,33358,0,0,0,44522,0,0,0,26052,0,0,0,39666,0,0,0,53352,0,0,0,5754,0,0,2,1110278,0,0,,,,,0,86148,0,0,0,60288,0,0 -17-43094727-G-A,17,43094727,rs771076131,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn268Asn,p.Asn268Asn,c.804C>T,synonymous_variant,Benign/Likely benign,415558,,9,1611386,0.00000558525393667315,0,0,nfe,0.00000183,9.77,,0.0700,0.0700,4.93,,,0,74760,0,0,0,59772,0,0,0,29526,0,0,0,44860,0,0,0,63928,0,0,1,6072,0,0,6,1178246,0,0,0,910,0,0,0,90948,0,0,2,62364,0,0 -17-43094727-G-C,17,43094727,rs771076131,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn268Lys,p.Asn268Lys,c.804C>G,missense_variant,Conflicting interpretations of pathogenicity,441285,,28,1611504,0.00001737507322352287,1,0,sas,0.00021789999999999998,24.5,0.546,0.00,-0.0100,4.93,0.00,0.717,0,74882,0,0,0,59792,0,0,0,29526,0,0,0,44848,0,0,0,63928,0,0,0,6050,0,0,0,1178238,0,0,0,910,0,0,28,90944,1,0,0,62386,0,0 -17-43094730-T-A,17,43094730,rs2154492181,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267Ser,p.Ser267Ser,c.801A>T,synonymous_variant,,,,1,626298,0.000001596684006654979,0,0,,,12.3,,0.0700,0.0900,2.92,,,0,17566,0,0,0,43530,0,0,0,20912,0,0,0,36036,0,0,0,53076,0,0,0,4136,0,0,0,348376,0,0,,,,,1,69682,0,0,0,32984,0,0 -17-43094731-GAA-G,17,43094731,rs80357724,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267LysfsTer19,p.Ser267LysfsTer19,c.798_799del,frameshift_variant,Pathogenic,37698,,2,1459238,0.0000013705783429433718,0,0,nfe,2.999999999999999e-7,26.0,,0.00,-0.0500,8.80,,,0,33344,0,0,0,44500,0,0,0,26052,0,0,0,39662,0,0,0,53346,0,0,0,5756,0,0,2,1110198,0,0,,,,,0,86106,0,0,0,60274,0,0 -17-43094732-A-G,17,43094732,rs587781496,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267Pro,p.Ser267Pro,c.799T>C,missense_variant,Conflicting interpretations of pathogenicity,141103,,4,626208,0.000006387653942460013,0,0,sas,0.00001144,19.1,0.549,0.00,-0.0100,2.28,0.0500,0.996,0,17558,0,0,0,43524,0,0,0,20900,0,0,0,36040,0,0,0,53064,0,0,0,4134,0,0,0,348360,0,0,,,,,3,69650,0,0,1,32978,0,0 -17-43094736-AGAAC-A,17,43094736,rs80357707,AGAAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser264MetfsTer33,p.Ser264MetfsTer33,c.791_794del,frameshift_variant,Pathogenic,55705,,2,1458418,0.0000013713489548263942,0,0,,,29.0,,0.660,0.680,1.74,,,0,33284,0,0,1,44330,0,0,0,26012,0,0,0,39656,0,0,0,53320,0,0,0,5750,0,0,1,1109808,0,0,,,,,0,86026,0,0,0,60232,0,0 -17-43094736-A-G,17,43094736,rs201441987,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,c.787+8T>C,,c.787+8T>C,splice_region_variant,Benign,55708,,67,1610722,0.00004159625310885429,0,0,eas,0.001066819999999999,12.2,,0.00,0.0100,1.74,,,0,74856,0,0,0,59608,0,0,0,29482,0,0,60,44846,0,0,0,63936,0,0,0,6044,0,0,2,1177844,0,0,0,912,0,0,0,90848,0,0,5,62346,0,0 -17-43094737-G-T,17,43094737,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser265Tyr,p.Ser265Tyr,c.794C>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,24.3,0.582,0.170,0.120,4.07,0.00,0.988,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094738-A-T,17,43094738,rs1567802051,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser265Thr,p.Ser265Thr,c.793T>A,missense_variant,,,,1,626340,0.0000015965769390426926,0,0,,,23.9,0.529,0.0400,0.100,2.35,0.0200,0.846,0,17538,0,0,0,43454,0,0,0,20882,0,0,0,36046,0,0,0,53076,0,0,1,4132,0,0,0,348586,0,0,,,,,0,69632,0,0,0,32994,0,0 -17-43094743-C-T,17,43094743,rs397509319,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,c.787+1G>A,,c.787+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,182127,,4,1611122,0.000002482741840779283,0,0,afr,0.00001066,16.4,0.524,0.0100,0.0100,2.02,0.140,0.175,3,74694,0,0,0,59616,0,0,0,29480,0,0,0,44870,0,0,0,63928,0,0,0,6064,0,0,1,1178344,0,0,0,910,0,0,0,90872,0,0,0,62344,0,0 -17-43094744-C-T,17,43094744,rs397509318,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly263Ser,p.Gly263Ser,c.787G>A,missense_variant,Conflicting interpretations of pathogenicity,133725,,2,1459002,0.000001370800040027361,0,0,,,17.1,0.542,0.0100,0.0100,1.92,0.370,0.0450,0,33288,0,0,0,44356,0,0,0,26004,0,0,0,39676,0,0,0,53340,0,0,0,5752,0,0,1,1110262,0,0,,,,,1,86062,0,0,0,60262,0,0 -17-43094745-C-T,17,43094745,rs397509317,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Gln262Gln,p.Gln262Gln,c.786G>A,splice_region_variant,Likely benign,55698,,3,1458900,0.000002056343820686819,0,0,nfe,7.200000000000001e-7,12.9,,0.550,0.580,5.00,,,0,33286,0,0,0,44334,0,0,0,25998,0,0,0,39676,0,0,0,53342,0,0,0,5748,0,0,3,1110216,0,0,,,,,0,86040,0,0,0,60260,0,0 -17-43094750-A-T,17,43094750,rs2054049254,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr261Asn,p.Tyr261Asn,c.781T>A,missense_variant,Conflicting interpretations of pathogenicity,1511200,,1,151926,0.0000065821518370785775,0,0,,,21.2,0.474,0.110,0.110,1.87,,,1,41326,0,0,0,15252,0,0,0,3466,0,0,0,5182,0,0,0,10556,0,0,0,316,0,0,0,68020,0,0,0,910,0,0,0,4808,0,0,0,2090,0,0 -17-43094753-T-C,17,43094753,rs786202263,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys260Glu,p.Lys260Glu,c.778A>G,missense_variant,Conflicting interpretations of pathogenicity,1009121,,1,833108,0.0000012003245677631232,0,0,,,23.7,0.493,0.0900,0.100,2.33,0.150,0.858,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094761-T-A,17,43094761,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257Leu,p.His257Leu,c.770A>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,24.4,0.624,0.00,0.0100,2.88,0.00,0.960,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094762-G-T,17,43094762,rs1597880077,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257Asn,p.His257Asn,c.769C>A,missense_variant,,,,1,624870,0.0000016003328692368013,0,0,,,23.6,0.543,0.0300,0.0700,4.06,0.00,0.973,0,17412,0,0,0,43154,0,0,0,20788,0,0,0,36034,0,0,1,53066,0,0,0,4134,0,0,0,347944,0,0,,,,,0,69446,0,0,0,32892,0,0 -17-43094763-C-A,17,43094763,rs746067447,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Ser,p.Arg256Ser,c.768G>T,missense_variant,Conflicting interpretations of pathogenicity,1760148,,2,1458962,0.0000013708376229127284,0,0,eas,0.00000835,20.6,0.494,0.0100,0.0200,0.766,0.0600,0.0770,0,33304,0,0,0,44356,0,0,0,25970,0,0,2,39682,0,0,0,53350,0,0,0,5756,0,0,0,1110342,0,0,,,,,0,85956,0,0,0,60246,0,0 -17-43094763-C-T,17,43094763,rs746067447,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg256Arg,p.Arg256Arg,c.768G>A,synonymous_variant,Likely benign,183872,,19,1610992,0.000011793975389077042,0,0,amr,0.00020810999999999998,9.34,,0.0100,0.0300,0.766,,,0,74696,0,0,19,59606,0,0,0,29442,0,0,0,44884,0,0,0,63950,0,0,0,6072,0,0,0,1178330,0,0,0,912,0,0,0,90764,0,0,0,62336,0,0 -17-43094763-C-CCT,17,43094763,,C,CCT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257GlyfsTer42,p.His257GlyfsTer42,c.766_767dup,frameshift_variant,,,,1,1458962,6.854188114563642e-7,0,0,,,23.1,,0.00,0.0800,0.766,,,0,33304,0,0,0,44356,0,0,0,25970,0,0,0,39682,0,0,0,53350,0,0,0,5756,0,0,1,1110342,0,0,,,,,0,85956,0,0,0,60246,0,0 -17-43094765-T-A,17,43094765,rs587781833,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Trp,p.Arg256Trp,c.766A>T,missense_variant,Conflicting interpretations of pathogenicity,141549,,1,626190,0.0000015969593893227296,0,0,,,25.6,0.581,0.00,0.0100,1.32,0.00,0.837,0,17504,0,0,0,43372,0,0,0,20860,0,0,0,36052,0,0,0,53092,0,0,0,4136,0,0,1,348664,0,0,,,,,0,69552,0,0,0,32958,0,0 -17-43094765-T-G,17,43094765,rs587781833,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Arg,p.Arg256Arg,c.766A>C,synonymous_variant,Likely benign,427300,,3,626190,0.0000047908781679681886,0,0,sas,0.00001145,11.4,,0.0400,0.0900,1.32,,,0,17504,0,0,0,43372,0,0,0,20860,0,0,0,36052,0,0,0,53092,0,0,0,4136,0,0,0,348664,0,0,,,,,3,69552,0,0,0,32958,0,0 -17-43094766-C-G,17,43094766,rs62625299,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu255Asp,p.Glu255Asp,c.765G>C,missense_variant,Conflicting interpretations of pathogenicity,662612,,1,1459138,6.853361368150237e-7,0,0,,,22.8,0.522,0.00,-0.0400,3.96,0.0300,0.815,0,33288,0,0,0,44322,0,0,0,25974,0,0,0,39676,0,0,0,53370,0,0,0,5756,0,0,0,1110500,0,0,,,,,1,86004,0,0,0,60248,0,0 -17-43094766-C-T,17,43094766,rs62625299,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu255Glu,p.Glu255Glu,c.765G>A,synonymous_variant,Benign/Likely benign,136091,,274,1611322,0.00017004670698966438,1,0,afr,0.0030649300000000017,7.40,,0.00,-0.0100,3.96,,,255,74806,1,0,8,59596,0,0,0,29446,0,0,0,44866,0,0,0,63974,0,0,0,6050,0,0,2,1178498,0,0,0,912,0,0,0,90814,0,0,9,62360,0,0 -17-43094773-G-A,17,43094773,rs1555593177,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala253Val,p.Ala253Val,c.758C>T,missense_variant,Conflicting interpretations of pathogenicity,489737,,1,1459792,6.850291000361696e-7,0,0,,,20.2,0.525,0.00,-0.0700,3.15,0.160,0.942,0,33300,0,0,0,44372,0,0,0,26004,0,0,0,39674,0,0,0,53372,0,0,0,5762,0,0,1,1111014,0,0,,,,,0,86018,0,0,0,60276,0,0 -17-43094773-G-T,17,43094773,rs1555593177,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala253Glu,p.Ala253Glu,c.758C>A,missense_variant,Conflicting interpretations of pathogenicity,1759651,,1,1459792,6.850291000361696e-7,0,0,,,18.1,0.529,0.0300,0.0600,3.15,0.0400,0.980,0,33300,0,0,0,44372,0,0,0,26004,0,0,0,39674,0,0,0,53372,0,0,0,5762,0,0,0,1111014,0,0,,,,,1,86018,0,0,0,60276,0,0 -17-43094775-A-G,17,43094775,rs786201338,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Arg,p.Arg252Arg,c.756T>C,synonymous_variant,Likely benign,184217,,12,1460082,0.000008218716483046842,0,0,eas,0.00017351999999999995,10.5,,0.0200,0.0400,2.76,,,0,33310,0,0,0,44406,0,0,0,26012,0,0,12,39676,0,0,0,53380,0,0,0,5762,0,0,0,1111182,0,0,,,,,0,86072,0,0,0,60282,0,0 -17-43094776-C-G,17,43094776,rs80357138,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Pro,p.Arg252Pro,c.755G>C,missense_variant,,,,1,1459806,6.850225303910246e-7,0,0,,,18.1,0.560,0.0100,0.0200,0.459,0.0100,0.0400,0,33308,0,0,0,44378,0,0,0,26000,0,0,0,39678,0,0,0,53376,0,0,0,5758,0,0,1,1111016,0,0,,,,,0,86018,0,0,0,60274,0,0 -17-43094776-C-T,17,43094776,rs80357138,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252His,p.Arg252His,c.755G>A,missense_variant,Conflicting interpretations of pathogenicity,55689,,14,1459806,0.000009590315425474344,0,0,nfe,0.00000653,7.69,0.543,0.00,-0.0200,0.459,1.00,0.00,0,33308,0,0,1,44378,0,0,0,26000,0,0,0,39678,0,0,0,53376,0,0,0,5758,0,0,13,1111016,0,0,,,,,0,86018,0,0,0,60274,0,0 -17-43094777-G-A,17,43094777,rs273902786,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Cys,p.Arg252Cys,c.754C>T,missense_variant,Conflicting interpretations of pathogenicity,55688,,6,1459730,0.000004110349174162345,0,0,nfe,8.4e-7,25.4,0.516,0.00,-0.0300,3.27,0.00,0.200,0,33276,0,0,0,44310,0,0,0,25998,0,0,0,39662,0,0,1,53378,0,0,0,5758,0,0,4,1111074,0,0,,,,,0,86010,0,0,1,60264,0,0 -17-43094779-T-C,17,43094779,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys251Arg,p.Lys251Arg,c.752A>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,24.1,0.468,0.00,-0.0700,1.68,0.120,0.973,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094781-C-T,17,43094781,rs762867923,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu250Glu,p.Glu250Glu,c.750G>A,synonymous_variant,Likely benign,427360,,1,152168,0.000006571683928289785,0,0,,,8.13,,0.00,-0.0400,3.41,,,0,41434,0,0,1,15276,0,0,0,3472,0,0,0,5194,0,0,0,10598,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 -17-43094787-G-A,17,43094787,rs886037791,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Thr,p.Thr248Thr,c.744C>T,synonymous_variant,Likely benign,506303,,5,1460966,0.0000034223931289297628,0,0,sas,0.00000385,3.90,,0.00,-0.0100,0.115,,,0,33392,0,0,0,44528,0,0,0,26072,0,0,0,39688,0,0,0,53384,0,0,0,5762,0,0,3,1111666,0,0,,,,,2,86132,0,0,0,60342,0,0 -17-43094789-T-C,17,43094789,rs879255288,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Ala,p.Thr248Ala,c.742A>G,missense_variant,Conflicting interpretations of pathogenicity,531383,,1,627844,0.000001592752339753187,0,0,,,4.50,0.564,0.0300,0.0300,0.603,0.740,0.0480,0,17590,0,0,0,43506,0,0,0,20920,0,0,0,36062,0,0,0,53114,0,0,0,4140,0,0,0,349800,0,0,,,,,0,69676,0,0,1,33036,0,0 -17-43094789-T-G,17,43094789,rs879255288,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Pro,p.Thr248Pro,c.742A>C,missense_variant,Conflicting interpretations of pathogenicity,252390,,1,627844,0.000001592752339753187,0,0,,,7.65,0.575,0.00,-0.0400,0.603,0.440,0.0480,0,17590,0,0,0,43506,0,0,0,20920,0,0,0,36062,0,0,0,53114,0,0,0,4140,0,0,1,349800,0,0,,,,,0,69676,0,0,0,33036,0,0 -17-43094790-G-A,17,43094790,rs1597880263,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn247Asn,p.Asn247Asn,c.741C>T,synonymous_variant,Likely benign,827036,,3,1461026,0.000002053351548843073,0,0,nfe,7.200000000000001e-7,3.28,,0.00,-0.0300,0.244,,,0,33404,0,0,0,44516,0,0,0,26076,0,0,0,39684,0,0,0,53386,0,0,0,5760,0,0,3,1111716,0,0,,,,,0,86148,0,0,0,60336,0,0 -17-43094792-T-C,17,43094792,rs767720128,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn247Asp,p.Asn247Asp,c.739A>G,missense_variant,Likely benign,232600,,1,833102,0.0000012003332124997898,0,0,,,12.4,0.421,0.0700,0.0700,1.80,0.160,0.0120,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094793-C-G,17,43094793,rs768416164,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu246Phe,p.Leu246Phe,c.738G>C,missense_variant,Conflicting interpretations of pathogenicity,1758654,,1,627926,0.0000015925443443972698,0,0,,,6.48,0.510,0.0500,0.0300,0.858,0.280,0.996,0,17626,0,0,0,43548,0,0,0,20926,0,0,0,36056,0,0,0,53104,0,0,0,4142,0,0,1,349802,0,0,,,,,0,69678,0,0,0,33044,0,0 -17-43094795-A-G,17,43094795,rs28897675,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu246Leu,p.Leu246Leu,c.736T>C,synonymous_variant,Likely benign,482941,,2,1461064,0.000001368865429577349,0,0,nfe,2.999999999999999e-7,2.54,,0.00,0.0300,0.0710,,,0,33406,0,0,0,44536,0,0,0,26094,0,0,0,39686,0,0,0,53374,0,0,0,5762,0,0,2,1111734,0,0,,,,,0,86132,0,0,0,60340,0,0 -17-43094795-A-C,17,43094795,rs28897675,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu246Val,p.Leu246Val,c.736T>G,missense_variant,Benign,41835,,1141,1613334,0.0007072311127144163,0,0,nfe,0.00088361,3.94,0.555,0.00,0.0300,0.0710,0.300,0.981,10,74958,0,0,4,59808,0,0,1,29564,0,0,0,44874,0,0,4,63998,0,0,1,6056,0,0,1097,1179760,0,0,0,912,0,0,0,90952,0,0,24,62452,0,0 -17-43094797-T-A,17,43094797,rs80356865,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp245Val,p.Asp245Val,c.734A>T,missense_variant,Conflicting interpretations of pathogenicity,55682,,7,1461144,0.000004790766686924766,0,0,nfe,0.0000026200000000000003,22.9,0.621,0.00,-0.0500,1.90,0.0300,0.875,0,33408,0,0,0,44540,0,0,0,26102,0,0,0,39692,0,0,0,53386,0,0,0,5762,0,0,7,1111754,0,0,,,,,0,86148,0,0,0,60352,0,0 -17-43094798-C-A,17,43094798,rs147519994,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp245Tyr,p.Asp245Tyr,c.733G>T,missense_variant,Conflicting interpretations of pathogenicity,142867,,6,1613312,0.000003719057442081879,0,0,afr,0.000017460000000000002,22.8,0.558,0.00,-0.0800,5.00,0.00,0.933,4,74940,0,0,0,59842,0,0,0,29570,0,0,0,44878,0,0,0,63970,0,0,0,6054,0,0,1,1179760,0,0,0,912,0,0,0,90928,0,0,1,62458,0,0 -17-43094799-A-G,17,43094799,rs2054057742,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn244Asn,p.Asn244Asn,c.732T>C,synonymous_variant,Likely benign,1094207,,2,152130,0.000013146650890685597,0,0,,,1.79,,0.00,0.0700,0.281,,,1,41436,0,0,0,15252,0,0,0,3472,0,0,0,5196,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,1,4822,0,0,0,2088,0,0 -17-43094802-A-G,17,43094802,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn243Asn,p.Asn243Asn,c.729T>C,synonymous_variant,,,,1,833098,0.0000012003389757267452,0,0,,,3.52,,0.00,0.0600,-0.0630,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43094802-A-C,17,43094802,rs730881467,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn243Lys,p.Asn243Lys,c.729T>G,missense_variant,Conflicting interpretations of pathogenicity,182126,,1,152162,0.000006571943060685322,0,0,,,15.2,0.480,0.0300,0.0900,-0.0630,,,0,41436,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10600,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43094805-A-G,17,43094805,rs2054058959,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser242Ser,p.Ser242Ser,c.726T>C,synonymous_variant,,,,1,152154,0.000006572288602337106,0,0,,,7.29,,0.00,0.0500,2.42,,,0,41426,0,0,0,15268,0,0,0,3468,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,1,4830,0,0,0,2084,0,0 -17-43094806-C-A,17,43094806,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser242Ile,p.Ser242Ile,c.725G>T,missense_variant,,,,2,833092,0.0000024006952413418927,0,0,nfe,4.4e-7,13.2,0.578,0.00,-0.0200,1.04,0.140,0.890,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094808-G-A,17,43094808,rs1379167990,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Pro,p.Pro241Pro,c.723C>T,synonymous_variant,Likely benign,2028072,,1,628296,0.0000015916065039408176,0,0,,,7.12,,0.00,-0.0600,1.64,,,0,17660,0,0,0,43622,0,0,0,20962,0,0,0,36054,0,0,0,53104,0,0,0,4146,0,0,0,349972,0,0,,,,,1,69714,0,0,0,33062,0,0 -17-43094809-G-A,17,43094809,rs80357351,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Leu,p.Pro241Leu,c.722C>T,missense_variant,Conflicting interpretations of pathogenicity,55679,,8,1461344,0.0000054744125955285,0,0,nfe,0.00000194,12.3,0.540,0.00,-0.0200,3.38,0.270,0.00,0,33444,0,0,0,44610,0,0,0,26108,0,0,0,39684,0,0,0,53370,0,0,0,5766,0,0,6,1111824,0,0,,,,,0,86172,0,0,2,60366,0,0 -17-43094809-G-T,17,43094809,rs80357351,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241His,p.Pro241His,c.722C>A,missense_variant,,,,1,1461344,6.843015744410625e-7,0,0,,,16.0,0.563,0.00,-0.0200,3.38,0.0700,0.0540,0,33444,0,0,0,44610,0,0,0,26108,0,0,0,39684,0,0,0,53370,0,0,0,5766,0,0,0,1111824,0,0,,,,,0,86172,0,0,1,60366,0,0 -17-43094810-G-A,17,43094810,rs1555593260,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Ser,p.Pro241Ser,c.721C>T,missense_variant,,,,1,833072,0.0000012003764380509728,0,0,,,0.131,0.563,0.00,0.0100,0.392,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761866,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094811-T-A,17,43094811,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln240His,p.Gln240His,c.720A>T,missense_variant,,,,1,628414,0.0000015913076411410312,0,0,,,1.28,0.533,0.00,-0.0200,-1.66,0.180,0.0180,0,17674,0,0,0,43642,0,0,0,20966,0,0,0,36058,0,0,0,53110,0,0,0,4144,0,0,1,350006,0,0,,,,,0,69740,0,0,0,33074,0,0 -17-43094814-A-G,17,43094814,rs56310439,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239His,p.His239His,c.717T>C,synonymous_variant,,,,2,628414,0.0000031826152822820624,0,0,nfe,9.5e-7,3.99,,0.0100,-0.0300,-0.0510,,,0,17674,0,0,0,43646,0,0,0,20972,0,0,0,36058,0,0,0,53110,0,0,0,4146,0,0,2,349994,0,0,,,,,0,69740,0,0,0,33074,0,0 -17-43094815-T-C,17,43094815,rs80357396,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239Arg,p.His239Arg,c.716A>G,missense_variant,Benign,55677,,5,1461476,0.0000034211988428137033,0,0,nfe,0.0000013199999999999999,0.156,0.600,0.00,0.0400,-0.660,0.950,0.0880,0,33456,0,0,0,44624,0,0,0,26120,0,0,0,39682,0,0,0,53378,0,0,0,5766,0,0,5,1111884,0,0,,,,,0,86196,0,0,0,60370,0,0 -17-43094815-T-A,17,43094815,rs80357396,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239Leu,p.His239Leu,c.716A>T,missense_variant,Conflicting interpretations of pathogenicity,231422,,2,1461476,0.0000013684795371254813,0,0,nfe,2.999999999999999e-7,0.246,0.638,0.00,0.0100,-0.660,1.00,0.797,0,33456,0,0,0,44624,0,0,0,26120,0,0,0,39682,0,0,0,53378,0,0,0,5766,0,0,2,1111884,0,0,,,,,0,86196,0,0,0,60370,0,0 -17-43094816-G-A,17,43094816,rs1270749718,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His239Tyr,p.His239Tyr,c.715C>T,missense_variant,Conflicting interpretations of pathogenicity,826868,,2,780354,0.000002562939383920631,0,0,,,22.0,0.551,0.0200,-0.130,5.55,0.210,0.879,2,59024,0,0,0,58894,0,0,0,24442,0,0,0,41246,0,0,0,63670,0,0,0,4462,0,0,0,417984,0,0,0,912,0,0,0,74552,0,0,0,35168,0,0 -17-43094820-T-G,17,43094820,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu237Asp,p.Glu237Asp,c.711A>C,missense_variant,,,,1,628386,0.0000015913785475806272,0,0,,,14.4,0.581,0.00,-0.0200,-0.0310,0.270,0.402,1,17680,0,0,0,43658,0,0,0,20968,0,0,0,36046,0,0,0,53084,0,0,0,4146,0,0,0,349990,0,0,,,,,0,69736,0,0,0,33078,0,0 -17-43094823-A-T,17,43094823,rs2154496753,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr236Thr,p.Thr236Thr,c.708T>A,synonymous_variant,,,,1,628344,0.0000015914849190889067,0,0,,,6.13,,0.00,0.0100,0.950,,,0,17674,0,0,0,43646,0,0,0,20960,0,0,0,36046,0,0,0,53078,0,0,0,4146,0,0,1,349992,0,0,,,,,0,69730,0,0,0,33072,0,0 -17-43094824-G-A,17,43094824,rs80356990,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr236Ile,p.Thr236Ile,c.707C>T,missense_variant,Conflicting interpretations of pathogenicity,665165,,1,151984,0.000006579639962101274,0,0,,,0.00600,0.584,0.00,-0.0100,-1.31,,,1,41354,0,0,0,15252,0,0,0,3470,0,0,0,5192,0,0,0,10568,0,0,0,316,0,0,0,68006,0,0,0,910,0,0,0,4822,0,0,0,2094,0,0 -17-43094826-A-G,17,43094826,rs1165432483,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Asn,p.Asn235Asn,c.705T>C,synonymous_variant,Likely benign,481425,,1,628384,0.0000015913836125681113,0,0,,,2.26,,0.00,0.0100,0.442,,,0,17688,0,0,0,43662,0,0,0,20972,0,0,0,36042,0,0,0,53066,0,0,0,4146,0,0,1,349986,0,0,,,,,0,69746,0,0,0,33076,0,0 -17-43094827-T-C,17,43094827,rs1555593283,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Ser,p.Asn235Ser,c.704A>G,missense_variant,Conflicting interpretations of pathogenicity,531207,,1,833096,0.0000012003418573609765,0,0,,,7.75,0.433,0.00,0.0300,2.92,0.400,0.311,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43094828-TTG-T,17,43094828,,TTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr234LysfsTer3,p.Thr234LysfsTer3,c.701_702del,frameshift_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,21.8,,0.0400,-0.230,0.852,,,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 -17-43094828-T-G,17,43094828,rs2154497564,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235His,p.Asn235His,c.703A>C,missense_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,18.8,0.411,0.00,-0.0200,0.852,0.0100,0.972,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 -17-43094828-T-A,17,43094828,rs2154497564,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Tyr,p.Asn235Tyr,c.703A>T,missense_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,20.7,0.492,0.00,-0.0300,0.852,0.0100,0.972,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 -17-43094830-G-T,17,43094830,rs1555593290,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr234Lys,p.Thr234Lys,c.701C>A,missense_variant,Conflicting interpretations of pathogenicity,628440,,1,151928,0.0000065820651887736295,0,0,,,16.6,0.547,0.00,-0.0300,2.80,0.510,0.982,0,41328,0,0,0,15252,0,0,0,3470,0,0,0,5194,0,0,0,10556,0,0,0,316,0,0,0,67998,0,0,0,912,0,0,0,4810,0,0,1,2092,0,0 -17-43094832-T-C,17,43094832,rs786202162,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val233Val,p.Val233Val,c.699A>G,synonymous_variant,Likely benign,185425,,11,1613396,0.000006817916990001215,0,0,amr,0.00006623999999999998,3.69,,0.00,0.0200,0.705,,,0,74866,0,0,8,59902,0,0,0,29590,0,0,0,44852,0,0,0,63930,0,0,0,6084,0,0,3,1179808,0,0,0,912,0,0,0,90998,0,0,0,62454,0,0 -17-43094835-A-G,17,43094835,rs1057523563,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp232Asp,p.Asp232Asp,c.696T>C,synonymous_variant,Likely benign,389874,,1,833098,0.0000012003389757267452,0,0,,,1.50,,0.00,0.0200,0.444,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43094836-T-A,17,43094836,rs398122708,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp232Val,p.Asp232Val,c.695A>T,missense_variant,Conflicting interpretations of pathogenicity,91664,,6,1461100,0.000004106495106426665,0,0,nfe,0.00000194,22.4,0.536,0.0200,-0.120,0.760,0.0100,0.556,0,33470,0,0,0,44600,0,0,0,26108,0,0,0,39656,0,0,0,53292,0,0,0,5768,0,0,6,1111688,0,0,,,,,0,86158,0,0,0,60360,0,0 -17-43094837-C-T,17,43094837,rs55975699,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp232Asn,p.Asp232Asn,c.694G>A,missense_variant,Conflicting interpretations of pathogenicity,55672,,32,1612896,0.000019840088883598198,0,0,afr,0.00031052000000000006,18.9,0.439,0.0100,-0.100,1.94,0.190,0.690,32,74814,0,0,0,59806,0,0,0,29572,0,0,0,44844,0,0,0,63880,0,0,0,6080,0,0,0,1179596,0,0,0,912,0,0,0,90942,0,0,0,62450,0,0 -17-43094838-C-T,17,43094838,rs62625298,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr231Thr,p.Thr231Thr,c.693G>A,synonymous_variant,Likely benign,55670,,176,1612652,0.00010913699917899212,0,0,nfe,0.00011566,4.91,,0.0500,-0.160,1.53,,,2,74750,0,0,5,59788,0,0,0,29574,0,0,2,44828,0,0,3,63842,0,0,4,6082,0,0,157,1179506,0,0,0,912,0,0,0,90924,0,0,3,62446,0,0 -17-43094839-G-T,17,43094839,rs80357001,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr231Lys,p.Thr231Lys,c.692C>A,missense_variant,,,,1,1460654,6.846248324380723e-7,0,0,,,3.24,0.516,0.0100,-0.0300,0.254,1.00,0.00,0,33458,0,0,0,44536,0,0,0,26098,0,0,0,39644,0,0,0,53232,0,0,0,5768,0,0,1,1111446,0,0,,,,,0,86120,0,0,0,60352,0,0 -17-43094839-G-A,17,43094839,rs80357001,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr231Met,p.Thr231Met,c.692C>T,missense_variant,Conflicting interpretations of pathogenicity,55669,,86,1612488,0.00005333373023551183,0,0,sas,0.00014525,18.6,0.545,0.0100,-0.0400,0.254,0.0100,0.118,7,74760,0,0,2,59768,0,0,0,29564,0,0,1,44832,0,0,1,63774,0,0,0,6084,0,0,50,1179428,0,0,0,912,0,0,20,90922,0,0,5,62444,0,0 -17-43094848-A-T,17,43094848,rs191872612,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe228Tyr,p.Phe228Tyr,c.683T>A,missense_variant,Conflicting interpretations of pathogenicity,186506,,2,779306,0.0000025663859895856055,0,0,,,23.3,0.532,0.00,0.0100,2.10,0.00,0.522,2,59218,0,0,0,58754,0,0,0,24388,0,0,0,41200,0,0,0,63576,0,0,0,4442,0,0,0,417278,0,0,0,912,0,0,0,74408,0,0,0,35130,0,0 -17-43094850-T-G,17,43094850,rs2054066333,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu227Asp,p.Glu227Asp,c.681A>C,missense_variant,,,,1,626550,0.0000015960418162955869,0,0,,,11.1,0.569,0.00,0.00,0.868,0.240,0.0770,0,17660,0,0,0,43430,0,0,0,20926,0,0,0,36006,0,0,0,52896,0,0,0,4144,0,0,0,348970,0,0,,,,,1,69522,0,0,0,32996,0,0 -17-43094854-C-T,17,43094854,rs1376262238,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys226Tyr,p.Cys226Tyr,c.677G>A,missense_variant,Conflicting interpretations of pathogenicity,441363,,4,1458230,0.000002743051507649685,0,0,nfe,8.4e-7,22.2,0.583,0.0100,0.0100,1.60,0.0800,0.804,0,33410,0,0,0,44188,0,0,0,26060,0,0,0,39586,0,0,0,53064,0,0,0,5766,0,0,4,1110066,0,0,,,,,0,85838,0,0,0,60252,0,0 -17-43094854-C-G,17,43094854,rs1376262238,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys226Ser,p.Cys226Ser,c.677G>C,missense_variant,Conflicting interpretations of pathogenicity,826617,,1,1458230,6.857628769124212e-7,0,0,,,23.0,0.560,0.00,0.0100,1.60,0.00,0.164,0,33410,0,0,0,44188,0,0,0,26060,0,0,0,39586,0,0,0,53064,0,0,0,5766,0,0,0,1110066,0,0,,,,,1,85838,0,0,0,60252,0,0 -17-43094856-A-C,17,43094856,rs1555593332,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala225Ala,p.Ala225Ala,c.675T>G,synonymous_variant,Likely benign,491184,,1,832970,0.0000012005234282147015,0,0,,,8.90,,0.00,0.0100,1.04,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,761776,0,0,,,,,0,16460,0,0,1,27294,0,0 -17-43094859-A-C,17,43094859,rs1064794486,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Ala,p.Ala224Ala,c.672T>G,splice_region_variant,Conflicting interpretations of pathogenicity,420455,,7,1455940,0.0000048078904350454,0,0,nfe,0.0000026300000000000002,13.8,,0.0200,-0.0300,1.80,,,0,33336,0,0,0,43934,0,0,0,26026,0,0,0,39510,0,0,0,52886,0,0,0,5760,0,0,7,1108702,0,0,,,,,0,85628,0,0,0,60158,0,0 -17-43094862-T-G,17,43094862,rs80358108,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-2A>C,,c.671-2A>C,splice_acceptor_variant,Pathogenic/Likely pathogenic,55663,,1,621834,0.0000016081462255199941,0,0,,,33.0,,0.980,-0.870,6.36,,,1,17506,0,0,0,42752,0,0,0,20846,0,0,0,35856,0,0,0,52480,0,0,0,4136,0,0,0,346356,0,0,,,,,0,69088,0,0,0,32814,0,0 -17-43094862-T-A,17,43094862,rs80358108,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-2A>T,,c.671-2A>T,splice_acceptor_variant,Pathogenic,267618,,1,621834,0.0000016081462255199941,0,0,,,33.0,,0.980,-0.870,6.36,,,0,17506,0,0,0,42752,0,0,0,20846,0,0,0,35856,0,0,0,52480,0,0,0,4136,0,0,1,346356,0,0,,,,,0,69088,0,0,0,32814,0,0 -17-43094866-A-C,17,43094866,rs878854964,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-6T>G,,c.671-6T>G,splice_region_variant,Uncertain significance,240829,,2,617200,0.000003240440699935191,0,0,eas,0.0000093,17.5,,0.240,-0.570,1.94,,,0,17368,0,0,0,42090,0,0,0,20790,0,0,2,35636,0,0,0,52098,0,0,0,4124,0,0,0,343808,0,0,,,,,0,68640,0,0,0,32646,0,0 -17-43094868-T-C,17,43094868,rs80358144,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-8A>G,,c.671-8A>G,splice_region_variant,Conflicting interpretations of pathogenicity,136539,,85,1601710,0.00005306828327225278,0,0,eas,0.0015840899999999992,1.64,,0.00,-0.0200,-0.0680,,,0,74620,0,0,0,58302,0,0,0,29412,0,0,85,44434,0,0,0,62964,0,0,0,6036,0,0,0,1173082,0,0,0,912,0,0,0,89910,0,0,0,62038,0,0 -17-43094870-T-C,17,43094870,rs398122707,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-10A>G,,c.671-10A>G,intron_variant,Conflicting interpretations of pathogenicity,91662,,3,617094,0.000004861495979542825,0,0,nfe,9.699999999999998e-7,1.60,,0.00,0.0100,-2.85,,,0,17366,0,0,0,42066,0,0,0,20798,0,0,0,35628,0,0,0,52084,0,0,0,4124,0,0,2,343752,0,0,,,,,1,68630,0,0,0,32646,0,0 -17-43094871-AC-A,17,43094871,rs273902781,AC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-12del,,c.671-12del,intron_variant,Benign/Likely benign,96955,,251,1598088,0.00015706268991444778,4,0,sas,0.0024428900000000005,0.179,,0.00,0.0400,3.65,,,1,74574,0,0,1,57794,0,0,0,29374,0,0,0,44286,0,0,0,62704,0,0,0,6036,0,0,1,1170960,0,0,0,912,0,0,244,89570,4,0,4,61878,0,0 -17-43094871-A-G,17,43094871,rs1597880676,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-11T>C,,c.671-11T>C,intron_variant,Likely benign,760548,,14,1445750,0.000009683555248141104,0,0,nfe,0.00000737,17.1,,0.0400,-0.150,3.65,,,0,33006,0,0,0,42494,0,0,0,25904,0,0,0,39094,0,0,0,52076,0,0,0,5742,0,0,14,1102926,0,0,,,,,0,84744,0,0,0,59764,0,0 -17-43094871-A-C,17,43094871,rs1597880676,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-11T>G,,c.671-11T>G,intron_variant,Uncertain significance,1692976,,1,1445750,6.916825177243646e-7,0,0,,,18.9,,0.0700,-0.220,3.65,,,0,33006,0,0,0,42494,0,0,0,25904,0,0,0,39094,0,0,0,52076,0,0,0,5742,0,0,1,1102926,0,0,,,,,0,84744,0,0,0,59764,0,0 -17-43094872-C-A,17,43094872,rs781393191,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-12G>T,,c.671-12G>T,intron_variant,Conflicting interpretations of pathogenicity,516873,,1,612958,0.0000016314331487638631,0,0,,,0.465,,0.00,0.0200,-0.0670,,,0,17242,0,0,0,41408,0,0,0,20742,0,0,0,35440,0,0,0,51760,0,0,0,4118,0,0,1,341848,0,0,,,,,0,67888,0,0,0,32512,0,0 -17-43094872-CAAA-C,17,43094872,,CAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-15_671-13del,,c.671-15_671-13del,intron_variant,,,,1,612958,0.0000016314331487638631,0,0,,,14.2,,0.0500,-0.210,-0.0670,,,0,17242,0,0,0,41408,0,0,0,20742,0,0,0,35440,0,0,0,51760,0,0,0,4118,0,0,0,341848,0,0,,,,,1,67888,0,0,0,32512,0,0 -17-43094875-AAAT-A,17,43094875,rs398122354,AAAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-18_671-16del,,c.671-18_671-16del,intron_variant,Conflicting interpretations of pathogenicity,125907,,2,1445026,0.0000013840581415144087,0,0,nfe,2.999999999999999e-7,11.1,,0.00,-0.0200,1.40,,,0,32990,0,0,0,42364,0,0,0,25882,0,0,0,39072,0,0,0,51980,0,0,0,5738,0,0,2,1102614,0,0,,,,,0,84632,0,0,0,59754,0,0 -17-43094875-A-T,17,43094875,rs80358058,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-15T>A,,c.671-15T>A,intron_variant,Conflicting interpretations of pathogenicity,125906,,3,1597178,0.0000018783128743321032,0,0,nfe,6.800000000000001e-7,14.9,,0.0400,-0.180,1.40,,,0,74406,0,0,0,57630,0,0,0,29354,0,0,0,44272,0,0,0,62592,0,0,0,6054,0,0,3,1170652,0,0,0,912,0,0,0,89462,0,0,0,61844,0,0 -17-43094878-T-A,17,43094878,rs746016001,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-18A>T,,c.671-18A>T,intron_variant,Likely benign,462687,,1,609482,0.000001640737544340932,0,0,,,5.89,,0.00,0.0200,-0.303,,,0,17134,0,0,1,40858,0,0,0,20688,0,0,0,35286,0,0,0,51326,0,0,0,4116,0,0,0,339862,0,0,,,,,0,67852,0,0,0,32360,0,0 -17-43094880-A-G,17,43094880,rs1392175166,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-20T>C,,c.671-20T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,17.1,,0.0100,-0.0500,0.630,,,0,41436,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4818,0,0,0,2092,0,0 -17-43094881-C-A,17,43094881,rs770132088,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-21G>T,,c.671-21G>T,intron_variant,,,,1,604424,0.0000016544677246436277,0,0,,,0.322,,0.00,0.0200,-0.221,,,0,16954,0,0,1,39974,0,0,0,20624,0,0,0,35050,0,0,0,50802,0,0,0,4102,0,0,0,337350,0,0,,,,,0,67420,0,0,0,32148,0,0 -17-43094888-C-T,17,43094888,rs577740757,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-28G>A,,c.671-28G>A,intron_variant,,,,1,152154,0.000006572288602337106,0,0,,,3.35,,0.00,0.0200,0.284,,,1,41508,0,0,0,15284,0,0,0,3470,0,0,0,5186,0,0,0,10572,0,0,0,294,0,0,0,68008,0,0,0,912,0,0,0,4808,0,0,0,2112,0,0 -17-43094890-C-A,17,43094890,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-30G>T,,c.671-30G>T,intron_variant,,,,1,596146,0.0000016774414321323971,0,0,,,10.5,,0.0100,0.00,1.85,,,0,16694,0,0,0,38784,0,0,0,20512,0,0,0,34516,0,0,0,49700,0,0,0,4086,0,0,0,333354,0,0,,,,,1,66660,0,0,0,31840,0,0 -17-43094891-A-C,17,43094891,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-31T>G,,c.671-31T>G,intron_variant,,,,1,823102,0.0000012149162558224861,0,0,,,13.6,,0.0500,-0.180,1.76,,,0,15566,0,0,0,962,0,0,0,5104,0,0,0,3564,0,0,0,272,0,0,0,1608,0,0,0,752816,0,0,,,,,1,16232,0,0,0,26978,0,0 -17-43094899-A-T,17,43094899,rs2154501992,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-39T>A,,c.671-39T>A,intron_variant,,,,1,581416,0.000001719938907769996,0,0,,,7.46,,0.00,0.00,2.33,,,0,16272,0,0,0,36772,0,0,0,20348,0,0,0,33568,0,0,0,47318,0,0,0,4004,0,0,1,326338,0,0,,,,,0,65498,0,0,0,31298,0,0 -17-43094900-A-C,17,43094900,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-40T>G,,c.671-40T>G,intron_variant,,,,1,581576,0.0000017194657276091174,0,0,,,9.39,,0.00,-0.0100,2.89,,,0,16274,0,0,0,36774,0,0,0,20354,0,0,1,33570,0,0,0,47372,0,0,0,4006,0,0,0,326408,0,0,,,,,0,65522,0,0,0,31296,0,0 -17-43094901-T-C,17,43094901,rs2054070372,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-41A>G,,c.671-41A>G,intron_variant,,,,5,1393398,0.000003588350205756001,0,0,nfe,0.0000013700000000000002,8.22,,0.0100,-0.0100,1.07,,,0,31542,0,0,0,37630,0,0,0,25394,0,0,0,37080,0,0,0,47566,0,0,0,5598,0,0,5,1069222,0,0,,,,,0,81440,0,0,0,57926,0,0 -17-43094902-T-C,17,43094902,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-42A>G,,c.671-42A>G,intron_variant,,,,2,1391800,0.0000014369880729989942,0,0,nfe,3.1e-7,5.29,,0.00,-0.0100,0.714,,,0,31494,0,0,0,37532,0,0,0,25388,0,0,0,36998,0,0,0,47350,0,0,0,5588,0,0,2,1068226,0,0,,,,,0,81318,0,0,0,57906,0,0 -17-43094902-T-G,17,43094902,rs1456087761,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-42A>C,,c.671-42A>C,intron_variant,,,,3,1391800,0.0000021554821094984913,0,0,nfe,3.1e-7,5.22,,0.00,-0.0100,0.714,,,0,31494,0,0,0,37532,0,0,0,25388,0,0,0,36998,0,0,0,47350,0,0,1,5588,0,0,2,1068226,0,0,,,,,0,81318,0,0,0,57906,0,0 -17-43094903-G-A,17,43094903,rs2154502075,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-43C>T,,c.671-43C>T,intron_variant,,,,2,1386400,0.0000014425851125216388,0,0,nfe,3.1e-7,2.12,,0.00,0.00,1.06,,,0,31352,0,0,0,37362,0,0,0,25348,0,0,0,36890,0,0,0,46972,0,0,0,5562,0,0,2,1064092,0,0,,,,,0,81082,0,0,0,57740,0,0 -17-43094903-G-T,17,43094903,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-43C>A,,c.671-43C>A,intron_variant,,,,2,1386400,0.0000014425851125216388,0,0,nfe,3.1e-7,1.71,,0.00,0.00,1.06,,,0,31352,0,0,0,37362,0,0,0,25348,0,0,0,36890,0,0,0,46972,0,0,0,5562,0,0,2,1064092,0,0,,,,,0,81082,0,0,0,57740,0,0 -17-43094905-C-A,17,43094905,rs1184958055,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-45G>T,,c.671-45G>T,intron_variant,,,,2,576034,0.000003472017276757969,0,0,sas,0.00000512,0.164,,0.00,0.00,-0.196,,,0,16060,0,0,0,36042,0,0,0,20272,0,0,0,33252,0,0,0,46326,0,0,0,3950,0,0,0,324226,0,0,,,,,2,64796,0,0,0,31110,0,0 -17-43094906-A-G,17,43094906,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-46T>C,,c.671-46T>C,intron_variant,,,,1,575430,0.0000017378308395460786,0,0,,,3.28,,0.00,-0.0100,-0.462,,,0,16114,0,0,0,36080,0,0,0,20282,0,0,0,33146,0,0,1,46082,0,0,0,3936,0,0,0,323734,0,0,,,,,0,64958,0,0,0,31098,0,0 -17-43094907-T-A,17,43094907,rs1237524173,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-47A>T,,c.671-47A>T,intron_variant,,,,1,575126,0.0000017387494218658172,0,0,,,0.815,,0.00,-0.0100,-1.05,,,0,16058,0,0,1,35970,0,0,0,20258,0,0,0,33148,0,0,0,46090,0,0,0,3928,0,0,0,323686,0,0,,,,,0,64900,0,0,0,31088,0,0 -17-43094907-T-C,17,43094907,rs1237524173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-47A>G,,c.671-47A>G,intron_variant,,,,2,575126,0.0000034774988437316343,0,0,,,1.32,,0.00,-0.0100,-1.05,,,0,16058,0,0,0,35970,0,0,0,20258,0,0,0,33148,0,0,0,46090,0,0,0,3928,0,0,0,323686,0,0,,,,,1,64900,0,0,1,31088,0,0 -17-43094908-T-TA,17,43094908,rs273902784,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49dup,,c.671-49dup,intron_variant,Likely benign,1697606,,8,1515576,0.00000527852116950915,0,0,nfe,0.00000309,0.416,,0.00,-0.0200,0.0520,,,0,72216,0,0,0,51918,0,0,0,28674,0,0,0,41674,0,0,0,56608,0,0,0,5776,0,0,8,1113704,0,0,0,912,0,0,0,85072,0,0,0,59022,0,0 -17-43094908-TAAAA-T,17,43094908,,TAAAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-52_671-49del,,c.671-52_671-49del,intron_variant,,,,1,1363502,7.334055982316124e-7,0,0,,,7.68,,0.0100,-0.0300,0.0520,,,0,30816,0,0,0,36672,0,0,0,25202,0,0,0,36476,0,0,0,46004,0,0,0,5460,0,0,1,1045682,0,0,,,,,0,80256,0,0,0,56934,0,0 -17-43094908-TA-T,17,43094908,rs273902784,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49del,,c.671-49del,intron_variant,Uncertain significance,125910,,3,1515578,0.0000019794428264332156,0,0,,,0.196,,0.0100,0.0200,0.0520,,,0,72216,0,0,1,51918,0,0,0,28674,0,0,0,41674,0,0,0,56608,0,0,0,5776,0,0,2,1113706,0,0,0,912,0,0,0,85072,0,0,0,59022,0,0 -17-43094909-A-T,17,43094909,rs1161378345,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49T>A,,c.671-49T>A,intron_variant,Likely benign,1275842,,6,724490,0.000008281687807975265,0,0,nfe,0.000006519999999999999,0.963,,0.00,0.00,0.517,,,0,57484,0,0,0,51034,0,0,0,23714,0,0,0,38166,0,0,0,55890,0,0,0,4210,0,0,6,390578,0,0,0,912,0,0,0,69420,0,0,0,33082,0,0 -17-43094918-C-T,17,43094918,rs1161575164,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-58G>A,,c.671-58G>A,intron_variant,,,,5,1305676,0.000003829433948391484,0,0,nfe,0.0000014700000000000001,0.588,,0.00,-0.0100,-2.45,,,0,29608,0,0,0,35838,0,0,0,24740,0,0,0,35648,0,0,0,42292,0,0,0,5062,0,0,5,999204,0,0,,,,,0,78268,0,0,0,55016,0,0 -17-43094919-A-T,17,43094919,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-59T>A,,c.671-59T>A,intron_variant,,,,1,743676,0.0000013446716043007976,0,0,,,5.71,,0.00,0.0100,0.0430,,,0,13784,0,0,0,872,0,0,0,4652,0,0,0,3218,0,0,0,250,0,0,0,1474,0,0,0,680478,0,0,,,,,0,14610,0,0,1,24338,0,0 -17-43094920-T-C,17,43094920,rs2054071313,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-60A>G,,c.671-60A>G,intron_variant,,,,1,152146,0.0000065726341803267915,0,0,,,0.273,,0.00,0.00,-0.217,,,1,41428,0,0,0,15262,0,0,0,3472,0,0,0,5194,0,0,0,10624,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43094920-T-A,17,43094920,rs2054071313,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-60A>T,,c.671-60A>T,intron_variant,,,,1,562734,0.000001777038529749402,0,0,,,0.207,,0.00,0.00,-0.217,,,0,15858,0,0,0,35000,0,0,0,20106,0,0,0,32444,0,0,0,42074,0,0,0,3594,0,0,1,319244,0,0,,,,,0,63680,0,0,0,30734,0,0 -17-43094921-A-G,17,43094921,rs2154502486,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-61T>C,,c.671-61T>C,intron_variant,,,,2,1299344,0.0000015392382617690157,0,0,sas,0.00000426,5.25,,0.00,-0.0200,0.631,,,0,29436,0,0,0,35650,0,0,0,24684,0,0,0,35554,0,0,0,41668,0,0,0,4966,0,0,0,994618,0,0,,,,,2,77930,0,0,0,54838,0,0 -17-43094922-C-G,17,43094922,rs2154502522,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-62G>C,,c.671-62G>C,intron_variant,,,,1,1293576,7.730508296381504e-7,0,0,,,0.478,,0.00,0.00,0.239,,,0,29314,0,0,0,35510,0,0,0,24618,0,0,0,35454,0,0,0,40854,0,0,0,4858,0,0,1,990736,0,0,,,,,0,77560,0,0,0,54672,0,0 -17-43094924-T-C,17,43094924,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-64A>G,,c.671-64A>G,intron_variant,,,,2,1292248,0.0000015476905361819094,0,0,,,6.47,,0.00,-0.0100,0.427,,,0,29312,0,0,0,35536,0,0,2,24618,0,0,0,35440,0,0,0,40818,0,0,0,4834,0,0,0,989468,0,0,,,,,0,77574,0,0,0,54648,0,0 -17-43094925-C-T,17,43094925,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-65G>A,,c.671-65G>A,intron_variant,,,,1,1292866,7.7347536403618e-7,0,0,,,2.31,,0.00,0.0100,0.479,,,0,29294,0,0,0,35538,0,0,0,24616,0,0,0,35438,0,0,0,40808,0,0,0,4856,0,0,1,990104,0,0,,,,,0,77560,0,0,0,54652,0,0 -17-43094927-T-G,17,43094927,rs1417490516,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-67A>C,,c.671-67A>C,intron_variant,,,,1,152174,0.0000065714248163286764,0,0,,,5.34,,0.00,-0.0100,0.371,,,0,41436,0,0,0,15268,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43094930-A-G,17,43094930,rs2054071806,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-70T>C,,c.671-70T>C,intron_variant,,,,3,1267616,0.0000023666473127508647,0,0,nfe,3.399999999999999e-7,12.1,,0.00,-0.0200,0.569,,,0,28596,0,0,0,34636,0,0,0,24342,0,0,0,35256,0,0,0,39460,0,0,0,4570,0,0,2,970546,0,0,,,,,0,76350,0,0,1,53860,0,0 -17-43094931-C-A,17,43094931,rs2054071934,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-71G>T,,c.671-71G>T,intron_variant,,,,2,152106,0.000013148725231088847,0,0,afr,0.00000801,6.66,,0.00,0.0100,0.343,,,2,41388,0,0,0,15258,0,0,0,3472,0,0,0,5202,0,0,0,10608,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43094931-C-T,17,43094931,rs2054071934,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-71G>A,,c.671-71G>A,intron_variant,,,,1,1266408,7.896349359763994e-7,0,0,,,7.27,,0.00,0.00,0.343,,,0,28598,0,0,0,34664,0,0,0,24328,0,0,0,35252,0,0,0,39278,0,0,0,4556,0,0,1,969694,0,0,,,,,0,76262,0,0,0,53776,0,0 -17-43094932-C-T,17,43094932,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-72G>A,,c.671-72G>A,intron_variant,,,,2,710540,0.0000028147606046105777,0,0,nfe,5.1e-7,9.40,,0.00,0.0100,0.955,,,0,13072,0,0,0,826,0,0,0,4428,0,0,0,3056,0,0,0,236,0,0,0,1408,0,0,2,650358,0,0,,,,,0,13890,0,0,0,23266,0,0 -17-43094933-T-C,17,43094933,rs1245635145,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-73A>G,,c.671-73A>G,intron_variant,,,,2,551506,0.000003626433801264175,0,0,nfe,0.00000105,10.1,,0.00,0.00,-0.00600,,,0,15444,0,0,0,33740,0,0,0,19832,0,0,0,32170,0,0,0,38562,0,0,0,3090,0,0,2,316106,0,0,,,,,0,62166,0,0,0,30396,0,0 -17-43094933-T-G,17,43094933,rs1245635145,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-73A>C,,c.671-73A>C,intron_variant,,,,1,152158,0.000006572115826969334,0,0,,,9.50,,0.00,-0.0100,-0.00600,,,0,41432,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43095771-G-A,17,43095771,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+75C>T,,c.670+75C>T,intron_variant,,,,1,1096700,9.118263882556762e-7,0,0,,,18.4,,0.00,0.00,3.35,,,0,25908,0,0,0,37288,0,0,0,23458,0,0,0,36174,0,0,0,50508,0,0,0,5086,0,0,1,795448,0,0,,,,,0,74798,0,0,0,48032,0,0 -17-43095771-G-T,17,43095771,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+75C>A,,c.670+75C>A,intron_variant,,,,1,1096698,9.118280511134333e-7,0,0,,,18.1,,0.00,0.00,3.35,,,0,25908,0,0,0,37288,0,0,0,23458,0,0,0,36174,0,0,0,50508,0,0,0,5086,0,0,1,795446,0,0,,,,,0,74798,0,0,0,48032,0,0 -17-43095772-A-G,17,43095772,rs1258494237,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+74T>C,,c.670+74T>C,intron_variant,,,,3,1251702,0.000002396736603440755,0,0,nfe,9.199999999999999e-7,19.1,,0.00,-0.0200,2.21,,,0,67452,0,0,0,52690,0,0,0,26948,0,0,0,41462,0,0,0,61242,0,0,0,5412,0,0,3,865630,0,0,0,912,0,0,0,79774,0,0,0,50180,0,0 -17-43095776-A-C,17,43095776,rs2054105037,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.670+70T>G,,c.670+70T>G,intron_variant,,,,1,152178,0.000006571252086372537,0,0,,,15.6,,0.00,0.00,1.25,,,1,41426,0,0,0,15282,0,0,0,3470,0,0,0,5194,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43095778-C-T,17,43095778,rs2154512984,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+68G>A,,c.670+68G>A,intron_variant,,,,1,589722,0.0000016957142518000006,0,0,,,12.2,,0.0100,0.00,0.674,,,0,16876,0,0,0,37726,0,0,0,20362,0,0,1,34470,0,0,0,50926,0,0,0,4080,0,0,0,328270,0,0,,,,,0,65466,0,0,0,31546,0,0 -17-43095780-AATTAC-A,17,43095780,rs1180536178,AATTAC,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.670+61_670+65del,,c.670+61_670+65del,intron_variant,,,,2,152142,0.000013145613965900278,0,0,afr,0.000008,13.6,,0.00,-0.0300,0.0820,,,2,41432,0,0,0,15260,0,0,0,3470,0,0,0,5198,0,0,0,10608,0,0,0,316,0,0,0,68028,0,0,0,908,0,0,0,4830,0,0,0,2092,0,0 -17-43095780-A-G,17,43095780,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+66T>C,,c.670+66T>C,intron_variant,,,,1,1150160,8.694442512346109e-7,0,0,,,14.0,,0.00,-0.0300,0.0820,,,0,27076,0,0,0,38736,0,0,0,23836,0,0,0,37112,0,0,0,51274,0,0,0,5188,0,0,0,840570,0,0,,,,,0,76572,0,0,1,49796,0,0 -17-43095781-A-T,17,43095781,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+65T>A,,c.670+65T>A,intron_variant,,,,1,573150,0.0000017447439588240426,0,0,,,12.9,,0.00,-0.0100,0.126,,,0,10400,0,0,0,636,0,0,0,3542,0,0,0,2468,0,0,0,200,0,0,0,1132,0,0,1,524950,0,0,,,,,0,11170,0,0,0,18652,0,0 -17-43095784-A-C,17,43095784,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+62T>G,,c.670+62T>G,intron_variant,,,,1,1164058,8.590637236288913e-7,0,0,,,16.1,,0.00,-0.0500,1.42,,,0,27352,0,0,0,39588,0,0,0,23970,0,0,0,37400,0,0,0,51598,0,0,0,5194,0,0,1,851280,0,0,,,,,0,77330,0,0,0,50346,0,0 -17-43095784-A-G,17,43095784,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+62T>C,,c.670+62T>C,intron_variant,,,,1,1164058,8.590637236288913e-7,0,0,,,16.3,,0.00,-0.0400,1.42,,,0,27352,0,0,0,39588,0,0,0,23970,0,0,0,37400,0,0,1,51598,0,0,0,5194,0,0,0,851280,0,0,,,,,0,77330,0,0,0,50346,0,0 -17-43095785-C-T,17,43095785,rs2154513023,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+61G>A,,c.670+61G>A,intron_variant,,,,1,586796,0.0000017041697625750686,0,0,,,8.16,,0.0100,-0.0200,-0.143,,,0,10636,0,0,0,664,0,0,0,3666,0,0,0,2536,0,0,0,204,0,0,0,1152,0,0,1,537310,0,0,,,,,0,11428,0,0,0,19200,0,0 -17-43095786-A-G,17,43095786,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+60T>C,,c.670+60T>C,intron_variant,,,,3,600452,0.000004996236168752873,0,0,nfe,0.00000239,13.6,,0.00,-0.0200,0.188,,,0,17206,0,0,0,39452,0,0,0,20468,0,0,0,35170,0,0,0,51594,0,0,0,4094,0,0,3,333942,0,0,,,,,0,66570,0,0,0,31956,0,0 -17-43095787-G-A,17,43095787,rs2154513042,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+59C>T,,c.670+59C>T,intron_variant,,,,4,1203106,0.00000332472782946806,0,0,,,12.1,,0.0100,0.00,0.907,,,1,28196,0,0,0,40320,0,0,0,24234,0,0,0,37780,0,0,0,51842,0,0,0,5280,0,0,0,885354,0,0,,,,,1,78414,0,0,2,51686,0,0 -17-43095788-TA-T,17,43095788,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+57del,,c.670+57del,intron_variant,,,,1,1206324,8.289646894200894e-7,0,0,,,4.96,,0.00,-0.0200,-0.382,,,0,28250,0,0,1,40498,0,0,0,24258,0,0,0,37886,0,0,0,51934,0,0,0,5286,0,0,0,887848,0,0,,,,,0,78600,0,0,0,51764,0,0 -17-43095791-T-C,17,43095791,rs2154513078,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+55A>G,,c.670+55A>G,intron_variant,,,,1,1240858,8.058939862578958e-7,0,0,,,2.44,,0.0600,0.0600,-1.10,,,0,28972,0,0,0,41234,0,0,0,24510,0,0,0,38222,0,0,0,52238,0,0,0,5338,0,0,1,917834,0,0,,,,,0,79546,0,0,0,52964,0,0 -17-43095791-T-G,17,43095791,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+55A>C,,c.670+55A>C,intron_variant,,,,1,1240858,8.058939862578958e-7,0,0,,,1.71,,0.0100,-0.0100,-1.10,,,0,28972,0,0,0,41234,0,0,0,24510,0,0,1,38222,0,0,0,52238,0,0,0,5338,0,0,0,917834,0,0,,,,,0,79546,0,0,0,52964,0,0 -17-43095794-A-ATCTACCCACTCTCTTTTCAGTGCCTG,17,43095794,,A,ATCTACCCACTCTCTTTTCAGTGCCTG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+26_670+51dup,,c.670+26_670+51dup,intron_variant,,,,1,1266028,7.89871945960121e-7,0,0,,,6.26,,0.00,-0.0500,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,1,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 -17-43095794-ATCTACCCACTC-A,17,43095794,,ATCTACCCACTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+41_670+51del,,c.670+41_670+51del,intron_variant,,,,1,1266028,7.89871945960121e-7,0,0,,,6.74,,0.00,-0.0800,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,1,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 -17-43095794-A-G,17,43095794,rs1597881731,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+52T>C,,c.670+52T>C,intron_variant,,,,2,1266028,0.000001579743891920242,0,0,nfe,3.5000000000000004e-7,10.5,,0.00,-0.0200,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,2,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 -17-43095799-C-A,17,43095799,rs1421409748,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+47G>T,,c.670+47G>T,intron_variant,,,,1,1298314,7.702296979005079e-7,0,0,,,2.91,,0.0200,-0.0500,0.00600,,,0,30152,0,0,0,42664,0,0,0,24904,0,0,0,38714,0,0,0,52654,0,0,0,5484,0,0,1,967460,0,0,,,,,0,81394,0,0,0,54888,0,0 -17-43095799-C-T,17,43095799,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+47G>A,,c.670+47G>A,intron_variant,,,,1,1298312,7.702308844099108e-7,0,0,,,4.31,,0.0500,-0.0800,0.00600,,,0,30152,0,0,0,42664,0,0,0,24904,0,0,0,38714,0,0,0,52654,0,0,0,5484,0,0,1,967458,0,0,,,,,0,81394,0,0,0,54888,0,0 -17-43095800-C-A,17,43095800,rs748966067,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+46G>T,,c.670+46G>T,intron_variant,,,,25,1455620,0.000017174812107555542,0,0,nfe,0.000014719999999999998,0.775,,0.0200,-0.0500,0.165,,,0,71662,0,0,0,58050,0,0,0,28412,0,0,0,43944,0,0,0,63242,0,0,0,5800,0,0,23,1040148,0,0,0,910,0,0,0,86308,0,0,2,57144,0,0 -17-43095800-C-T,17,43095800,rs748966067,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+46G>A,,c.670+46G>A,intron_variant,,,,1,1303534,7.671453141997063e-7,0,0,,,8.88,,0.900,0.750,0.165,,,0,30252,0,0,0,42784,0,0,0,24944,0,0,0,38746,0,0,0,52644,0,0,0,5484,0,0,0,972142,0,0,,,,,1,81484,0,0,0,55054,0,0 -17-43095801-C-T,17,43095801,rs273902780,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+45G>A,,c.670+45G>A,intron_variant,Uncertain significance,125901,,1,1310846,7.628661185219316e-7,0,0,,,2.60,,0.150,0.100,0.142,,,1,30396,0,0,0,42966,0,0,0,25002,0,0,0,38788,0,0,0,52748,0,0,0,5496,0,0,0,978414,0,0,,,,,0,81730,0,0,0,55306,0,0 -17-43095805-C-T,17,43095805,rs2054105782,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+41G>A,,c.670+41G>A,intron_variant,,,,2,1512908,0.000001321957448833637,0,0,,,5.00,,0.0700,0.0300,0.355,,,0,72836,0,0,1,58682,0,0,0,28778,0,0,0,44254,0,0,0,63532,0,0,0,5898,0,0,1,1091102,0,0,0,912,0,0,0,87808,0,0,0,59106,0,0 -17-43095805-C-CT,17,43095805,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+40dup,,c.670+40dup,intron_variant,,,,1,1360720,7.349050502675054e-7,0,0,,,7.08,,0.0400,-0.0900,0.355,,,0,31386,0,0,0,43414,0,0,0,25310,0,0,0,39054,0,0,0,52920,0,0,0,5582,0,0,0,1023064,0,0,,,,,0,82976,0,0,1,57014,0,0 -17-43095805-C-G,17,43095805,rs2054105782,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+41G>C,,c.670+41G>C,intron_variant,,,,1,1360720,7.349050502675054e-7,0,0,,,4.44,,0.0300,-0.0400,0.355,,,0,31386,0,0,0,43414,0,0,0,25310,0,0,0,39054,0,0,0,52920,0,0,0,5582,0,0,1,1023064,0,0,,,,,0,82976,0,0,0,57014,0,0 -17-43095807-CTT-C,17,43095807,rs763949697,CTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+37_670+38del,,c.670+37_670+38del,intron_variant,,,,2,1531698,0.000001305740426637627,0,0,,,5.91,,0.0500,-0.120,1.41,,,0,73198,0,0,0,58878,0,0,0,28924,0,0,0,44352,0,0,0,63556,0,0,0,5924,0,0,2,1107986,0,0,0,912,0,0,0,88268,0,0,0,59700,0,0 -17-43095813-A-G,17,43095813,rs1464234975,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+33T>C,,c.670+33T>C,intron_variant,,,,1,1395094,7.167975777976252e-7,0,0,,,10.7,,0.0400,-0.0700,1.68,,,0,32062,0,0,0,44052,0,0,0,25596,0,0,0,39320,0,0,0,53104,0,0,0,5656,0,0,0,1053112,0,0,,,,,1,84038,0,0,0,58154,0,0 -17-43095815-T-G,17,43095815,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+31A>C,,c.670+31A>C,intron_variant,,,,2,1406744,0.0000014217227868041379,0,0,nfe,3.1e-7,5.21,,0.00,-0.0100,-0.939,,,0,32290,0,0,0,44152,0,0,0,25672,0,0,0,39380,0,0,0,53158,0,0,0,5680,0,0,2,1063562,0,0,,,,,0,84354,0,0,0,58496,0,0 -17-43095815-T-C,17,43095815,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+31A>G,,c.670+31A>G,intron_variant,,,,1,1406744,7.108613934020689e-7,0,0,,,6.11,,0.0200,-0.0300,-0.939,,,0,32290,0,0,0,44152,0,0,0,25672,0,0,0,39380,0,0,0,53158,0,0,0,5680,0,0,1,1063562,0,0,,,,,0,84354,0,0,0,58496,0,0 -17-43095816-G-A,17,43095816,rs1336317191,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+30C>T,,c.670+30C>T,intron_variant,,,,3,1562614,0.0000019198599270197245,0,0,afr,0.0000108,5.44,,0.930,0.840,0.100,,,3,73778,0,0,0,59444,0,0,0,29160,0,0,0,44558,0,0,0,63756,0,0,0,5994,0,0,0,1134964,0,0,0,912,0,0,0,89326,0,0,0,60722,0,0 -17-43095820-G-C,17,43095820,rs368134697,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+26C>G,,c.670+26C>G,intron_variant,Likely benign,439441,,26,1585660,0.00001639695773368818,0,0,afr,0.00019986999999999997,0.372,,0.0100,-0.0700,-0.851,,,22,74432,0,0,2,59680,0,0,0,29336,0,0,0,44702,0,0,0,63830,0,0,0,6014,0,0,0,1155196,0,0,0,912,0,0,0,90008,0,0,2,61550,0,0 -17-43095821-T-C,17,43095821,rs1201105473,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+25A>G,,c.670+25A>G,intron_variant,,,,7,1435786,0.000004875378364185192,0,0,nfe,0.00000267,6.08,,0.0500,-0.130,0.0190,,,0,32924,0,0,0,44438,0,0,0,25882,0,0,0,39540,0,0,0,53240,0,0,0,5722,0,0,7,1089246,0,0,,,,,0,85272,0,0,0,59522,0,0 -17-43095825-G-T,17,43095825,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+21C>A,,c.670+21C>A,intron_variant,,,,1,814676,0.0000012274818455435044,0,0,,,2.88,,0.0200,-0.0300,0.0330,,,0,15336,0,0,0,960,0,0,0,5070,0,0,0,3534,0,0,0,270,0,0,0,1584,0,0,1,745222,0,0,,,,,0,16012,0,0,0,26688,0,0 -17-43095829-G-A,17,43095829,rs533684596,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+17C>T,,c.670+17C>T,intron_variant,Likely benign,1127631,,3,1604108,0.0000018701982659521678,0,0,sas,0.00000881,1.77,,0.00,0.0100,0.409,,,0,74752,0,0,0,59808,0,0,0,29466,0,0,0,44794,0,0,0,63862,0,0,0,6042,0,0,0,1171830,0,0,0,912,0,0,3,90498,0,0,0,62144,0,0 -17-43095830-C-T,17,43095830,rs199916228,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+16G>A,,c.670+16G>A,intron_variant,Benign,142297,,224,1606486,0.00013943476631604634,2,0,nfe,0.00016549,2.76,,0.00,0.00,0.675,,,1,74836,0,0,0,59892,0,0,0,29490,0,0,0,44812,0,0,0,63894,0,0,0,6046,0,0,218,1173752,2,0,0,912,0,0,1,90614,0,0,4,62238,0,0 -17-43095832-A-G,17,43095832,rs1342806434,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+14T>C,,c.670+14T>C,intron_variant,Likely benign,1106537,,1,1455648,6.869792697135571e-7,0,0,,,10.6,,0.0600,-0.110,2.17,,,1,33328,0,0,0,44624,0,0,0,26038,0,0,0,39652,0,0,0,53338,0,0,0,5754,0,0,0,1106870,0,0,,,,,0,85852,0,0,0,60192,0,0 -17-43095834-C-T,17,43095834,rs560661816,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+12G>A,,c.670+12G>A,intron_variant,Likely benign,462684,,7,1608034,0.000004353141786803016,0,0,sas,0.000028730000000000004,0.258,,0.00,0.0100,0.204,,,0,74874,0,0,0,59930,0,0,0,29518,0,0,0,44812,0,0,0,63930,0,0,0,6048,0,0,0,1174996,0,0,0,912,0,0,6,90710,0,0,1,62304,0,0 -17-43095834-C-G,17,43095834,rs560661816,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+12G>C,,c.670+12G>C,intron_variant,Likely benign,491183,,1,1455794,6.869103733083115e-7,0,0,,,0.211,,0.00,0.0100,0.204,,,0,33322,0,0,0,44638,0,0,0,26048,0,0,0,39648,0,0,0,53334,0,0,0,5754,0,0,1,1106978,0,0,,,,,0,85880,0,0,0,60192,0,0 -17-43095838-G-C,17,43095838,rs80358050,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+8C>G,,c.670+8C>G,splice_region_variant,Uncertain significance,125903,,2,1457978,0.0000013717628112358348,0,0,nfe,2.999999999999999e-7,11.9,,0.0800,-0.140,2.67,,,0,33372,0,0,0,44654,0,0,0,26062,0,0,0,39658,0,0,0,53338,0,0,0,5758,0,0,2,1108898,0,0,,,,,0,85980,0,0,0,60258,0,0 -17-43095838-G-A,17,43095838,rs80358050,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+8C>T,,c.670+8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,37692,,6,1457978,0.000004115288433707505,0,0,nfe,0.0000013199999999999999,15.4,,0.600,0.240,2.67,,,1,33372,0,0,0,44654,0,0,0,26062,0,0,0,39658,0,0,0,53338,0,0,0,5758,0,0,5,1108898,0,0,,,,,0,85980,0,0,0,60258,0,0 -17-43095839-C-T,17,43095839,rs80358167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+7G>A,,c.670+7G>A,splice_region_variant,Likely benign,125902,,1,830904,0.00000120350846788558,0,0,,,5.82,,0.00,0.0100,0.0240,,,0,15716,0,0,0,980,0,0,0,5142,0,0,0,3616,0,0,0,276,0,0,0,1614,0,0,1,759922,0,0,,,,,0,16402,0,0,0,27236,0,0 -17-43095841-A-G,17,43095841,rs1030987340,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+5T>C,,c.670+5T>C,intron_variant,Uncertain significance,462686,,3,780280,0.000003844773670989901,0,0,,,13.4,,0.130,-0.200,-0.192,,,0,59116,0,0,0,58958,0,0,0,24406,0,0,0,41218,0,0,0,63682,0,0,0,4462,0,0,0,417884,0,0,0,912,0,0,1,74476,0,0,2,35166,0,0 -17-43095843-T-C,17,43095843,rs1555593531,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+3A>G,,c.670+3A>G,intron_variant,Uncertain significance,482895,,1,628238,0.0000015917534437585755,0,0,,,23.5,,0.750,-0.690,2.91,,,0,17686,0,0,0,43698,0,0,0,20940,0,0,0,36042,0,0,0,53086,0,0,0,4146,0,0,1,349902,0,0,,,,,0,69662,0,0,0,33076,0,0 -17-43095844-A-G,17,43095844,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+2T>C,,c.670+2T>C,splice_donor_variant,,,,3,628250,0.000004775169120573021,0,0,sas,0.00000476,32.0,,0.790,-0.800,4.63,,,0,17688,0,0,0,43698,0,0,0,20940,0,0,0,36046,0,0,0,53086,0,0,0,4146,0,0,1,349906,0,0,,,,,2,69660,0,0,0,33080,0,0 -17-43095845-C-A,17,43095845,rs398122706,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+1G>T,,c.670+1G>T,splice_donor_variant,Uncertain significance,91661,,1,1460402,6.847429680320898e-7,0,0,,,33.0,,0.790,-0.800,2.00,,,0,33454,0,0,0,44682,0,0,0,26082,0,0,0,39664,0,0,0,53362,0,0,0,5764,0,0,1,1110922,0,0,,,,,0,86114,0,0,0,60358,0,0 -17-43095845-C-T,17,43095845,rs398122706,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+1G>A,,c.670+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,1755007,,3,1460402,0.0000020542289040962695,0,0,nfe,7.200000000000001e-7,32.0,,0.790,-0.800,2.00,,,0,33454,0,0,0,44682,0,0,0,26082,0,0,0,39664,0,0,0,53362,0,0,0,5764,0,0,3,1110922,0,0,,,,,0,86114,0,0,0,60358,0,0 -17-43095846-C-A,17,43095846,rs431825419,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Ser,p.Ala224Ser,c.670G>T,missense_variant,,,,1,1460598,6.846510812694526e-7,0,0,,,35.0,0.513,0.770,-0.740,5.72,0.0900,0.169,0,33458,0,0,0,44682,0,0,0,26092,0,0,0,39668,0,0,0,53362,0,0,0,5764,0,0,0,1111094,0,0,,,,,0,86112,0,0,1,60366,0,0 -17-43095846-C-T,17,43095846,rs431825419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Thr,p.Ala224Thr,c.670G>A,missense_variant,Conflicting interpretations of pathogenicity,96954,,1,1460598,6.846510812694526e-7,0,0,,,36.0,0.541,0.720,-0.700,5.72,0.0500,0.300,0,33458,0,0,0,44682,0,0,0,26092,0,0,0,39668,0,0,0,53362,0,0,0,5764,0,0,1,1111094,0,0,,,,,0,86112,0,0,0,60366,0,0 -17-43095847-CT-C,17,43095847,rs80357537,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys223ArgfsTer11,p.Lys223ArgfsTer11,c.668del,frameshift_variant,Conflicting interpretations of pathogenicity,55659,,1,1460514,6.846904582907113e-7,0,0,,,22.8,,0.120,-0.0800,0.469,,,0,33458,0,0,0,44670,0,0,0,26088,0,0,0,39662,0,0,0,53362,0,0,0,5764,0,0,0,1111042,0,0,,,,,1,86118,0,0,0,60350,0,0 -17-43095851-T-C,17,43095851,rs398122705,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Arg,p.Lys222Arg,c.665A>G,missense_variant,Uncertain significance,91660,,1,628422,0.0000015912873833188526,0,0,,,16.1,0.573,0.0400,-0.100,0.742,0.280,0.115,0,17688,0,0,0,43710,0,0,0,20950,0,0,0,36048,0,0,0,53108,0,0,0,4146,0,0,1,349976,0,0,,,,,0,69714,0,0,0,33082,0,0 -17-43095852-T-A,17,43095852,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Ter,p.Lys222Ter,c.664A>T,stop_gained,,,,2,1461066,0.0000013688635557873497,0,0,nfe,2.999999999999999e-7,34.0,,0.100,-0.320,0.332,,,0,33468,0,0,0,44698,0,0,0,26092,0,0,0,39676,0,0,0,53382,0,0,0,5766,0,0,2,1111454,0,0,,,,,0,86162,0,0,0,60368,0,0 -17-43095852-T-C,17,43095852,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Glu,p.Lys222Glu,c.664A>G,missense_variant,Uncertain significance,1754673,,1,1461066,6.844317778936749e-7,0,0,,,14.5,0.502,0.00,-0.0400,0.332,0.450,0.00300,0,33468,0,0,0,44698,0,0,0,26092,0,0,0,39676,0,0,0,53382,0,0,0,5766,0,0,0,1111454,0,0,,,,,0,86162,0,0,1,60368,0,0 -17-43095854-G-A,17,43095854,rs1597881888,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala221Val,p.Ala221Val,c.662C>T,missense_variant,Uncertain significance,826519,,1,1460948,6.844870590876609e-7,0,0,,,33.0,0.551,0.520,-0.510,1.28,0.0300,0.0840,0,33446,0,0,0,44686,0,0,0,26102,0,0,0,39674,0,0,0,53364,0,0,0,5766,0,0,1,1111384,0,0,,,,,0,86166,0,0,0,60360,0,0 -17-43095855-C-A,17,43095855,rs80357088,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala221Ser,p.Ala221Ser,c.661G>T,missense_variant,Conflicting interpretations of pathogenicity,37690,,111,1613026,0.00006881476182033023,1,0,nfe,0.0000766,13.7,0.565,0.00,0.00,0.677,0.140,0.0140,2,74854,0,0,0,59938,0,0,0,29566,0,0,0,44868,0,0,0,63924,0,0,0,6082,0,0,107,1179418,0,0,0,912,0,0,0,91012,0,0,2,62452,1,0 -17-43095855-C-T,17,43095855,rs80357088,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala221Thr,p.Ala221Thr,c.661G>A,missense_variant,,,,2,1461048,0.0000013688804200820233,0,0,eas,0.00000835,15.9,0.519,0.00,0.00,0.677,0.340,0.00500,0,33452,0,0,0,44680,0,0,0,26098,0,0,2,39674,0,0,0,53362,0,0,0,5766,0,0,0,1111472,0,0,,,,,0,86182,0,0,0,60362,0,0 -17-43095857-G-C,17,43095857,rs431825418,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser220Cys,p.Ser220Cys,c.659C>G,missense_variant,Uncertain significance,96953,,1,151876,0.000006584318786378361,0,0,,,32.0,0.479,0.340,-0.380,4.05,0.0400,0.339,0,41352,0,0,0,15250,0,0,0,3466,0,0,1,5182,0,0,0,10530,0,0,0,316,0,0,0,67958,0,0,0,910,0,0,0,4830,0,0,0,2082,0,0 -17-43095861-C-G,17,43095861,rs273902779,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219His,p.Asp219His,c.655G>C,missense_variant,Uncertain significance,234087,,1,1461448,6.842528779676047e-7,0,0,,,22.6,0.575,0.390,-0.410,1.34,0.200,0.380,0,33464,0,0,0,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,1,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 -17-43095861-C-A,17,43095861,rs273902779,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219Tyr,p.Asp219Tyr,c.655G>T,missense_variant,Uncertain significance,1754198,,1,1461448,6.842528779676047e-7,0,0,,,30.0,0.575,0.580,-0.510,1.34,0.0300,0.556,0,33464,0,0,0,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,1,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 -17-43095861-C-T,17,43095861,rs273902779,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219Asn,p.Asp219Asn,c.655G>A,missense_variant,Conflicting interpretations of pathogenicity,55655,,2,1461448,0.0000013685057559352094,0,0,amr,0.000007420000000000001,19.6,0.391,0.340,-0.330,1.34,0.540,0.00300,0,33464,0,0,2,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,0,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 -17-43095864-A-C,17,43095864,rs765950064,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu218Val,p.Leu218Val,c.652T>G,missense_variant,Benign,1684697,,2,1461530,0.000001368428975115119,0,0,nfe,2.999999999999999e-7,4.86,0.648,0.00,0.0100,-1.98,0.200,0.344,0,33466,0,0,0,44708,0,0,0,26112,0,0,0,39678,0,0,0,53388,0,0,0,5768,0,0,2,1111822,0,0,,,,,0,86204,0,0,0,60384,0,0 -17-43095866-C-G,17,43095866,rs774284145,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser217Thr,p.Ser217Thr,c.650G>C,missense_variant,Uncertain significance,531351,,1,628544,0.0000015909785154261276,0,0,,,7.24,0.577,0.00,0.0100,0.163,0.270,0.00600,0,17688,0,0,0,43724,0,0,0,20964,0,0,0,36050,0,0,0,53110,0,0,0,4148,0,0,1,350024,0,0,,,,,0,69750,0,0,0,33086,0,0 -17-43095875-T-C,17,43095875,rs55680408,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp214Gly,p.Asp214Gly,c.641A>G,missense_variant,Benign,37689,,95,1613828,0.00005886624844778998,0,0,nfe,0.00006642,14.3,0.584,0.230,-0.230,0.350,0.270,0.00,0,74932,0,0,0,59984,0,0,0,29582,0,0,0,44878,0,0,0,64010,0,0,0,6084,0,0,94,1179920,0,0,0,912,0,0,0,91046,0,0,1,62480,0,0 -17-43095878-C-T,17,43095878,rs1567803140,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg213Lys,p.Arg213Lys,c.638G>A,missense_variant,Conflicting interpretations of pathogenicity,578841,,2,628560,0.000003181876034109711,0,0,eas,0.00000919,5.69,0.538,0.130,0.0200,0.126,0.650,0.00,0,17690,0,0,0,43724,0,0,0,20962,0,0,2,36052,0,0,0,53110,0,0,0,4148,0,0,0,350040,0,0,,,,,0,69748,0,0,0,33086,0,0 -17-43095881-G-A,17,43095881,rs2054112546,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr212Ile,p.Thr212Ile,c.635C>T,missense_variant,Uncertain significance,919790,,4,833024,0.0000048017824216349105,0,0,nfe,0.0000012299999999999999,18.4,0.531,0.170,-0.250,2.90,0.0100,0.0340,0,15784,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,4,761826,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43095885-C-T,17,43095885,rs1192717688,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly211Arg,p.Gly211Arg,c.631G>A,missense_variant,Uncertain significance,631030,,1,1461604,6.841798462511049e-7,0,0,,,24.2,0.560,0.370,-0.360,1.96,0.0100,0.673,0,33474,0,0,0,44708,0,0,0,26122,0,0,0,39682,0,0,0,53388,0,0,0,5766,0,0,1,1111874,0,0,,,,,0,86206,0,0,0,60384,0,0 -17-43095886-T-C,17,43095886,rs1555593567,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln210Gln,p.Gln210Gln,c.630A>G,synonymous_variant,Likely benign,481086,,2,1461594,0.000001368369054607504,0,0,,,15.8,,0.380,-0.410,1.38,,,1,33474,0,0,0,44706,0,0,0,26122,0,0,0,39680,0,0,0,53388,0,0,0,5768,0,0,1,1111870,0,0,,,,,0,86200,0,0,0,60386,0,0 -17-43095890-G-A,17,43095890,rs201596327,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro209Leu,p.Pro209Leu,c.626C>T,missense_variant,Uncertain significance,409315,,16,1613812,0.000009914413822675751,0,0,eas,0.00022319999999999995,17.7,0.536,0.0300,0.0100,3.41,0.200,0.0150,0,75032,0,0,0,59996,0,0,0,29594,0,0,16,44860,0,0,0,63994,0,0,0,6062,0,0,0,1179856,0,0,0,912,0,0,0,91018,0,0,0,62488,0,0 -17-43095891-G-A,17,43095891,rs730881466,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro209Ser,p.Pro209Ser,c.625C>T,missense_variant,Uncertain significance,182125,,1,833008,0.000001200468662966022,0,0,,,11.0,0.615,0.0300,-0.0400,1.56,0.130,0.164,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761810,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43095892-G-A,17,43095892,rs2054114975,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Thr,p.Thr208Thr,c.624C>T,synonymous_variant,Likely benign,918385,,2,628534,0.00000318200765591042,0,0,sas,0.00000476,5.79,,0.0100,0.00,0.347,,,0,17690,0,0,0,43724,0,0,0,20972,0,0,0,36046,0,0,0,53104,0,0,0,4146,0,0,0,350030,0,0,,,,,2,69740,0,0,0,33082,0,0 -17-43095893-G-C,17,43095893,rs764499766,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Ser,p.Thr208Ser,c.623C>G,missense_variant,,,,6,1461538,0.0000041052644542940385,0,0,sas,0.000015830000000000003,7.42,0.612,0.0100,0.00,0.248,0.390,0.0570,0,33474,0,0,0,44710,0,0,0,26122,0,0,0,39672,0,0,0,53382,0,0,0,5768,0,0,0,1111830,0,0,,,,,4,86200,0,0,2,60380,0,0 -17-43095893-G-A,17,43095893,rs764499766,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Ile,p.Thr208Ile,c.623C>T,missense_variant,,,,1,1461538,6.842107423823397e-7,0,0,,,15.2,0.634,0.0300,0.0100,0.248,0.0400,0.00900,0,33474,0,0,0,44710,0,0,0,26122,0,0,0,39672,0,0,0,53382,0,0,0,5768,0,0,0,1111830,0,0,,,,,1,86200,0,0,0,60380,0,0 -17-43095897-T-C,17,43095897,rs2054115706,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile207Val,p.Ile207Val,c.619A>G,missense_variant,Uncertain significance,856578,,1,628478,0.0000015911455930040512,0,0,,,16.6,0.509,0.00,0.0100,0.500,0.0600,0.0170,0,17690,0,0,0,43724,0,0,0,20960,0,0,1,36044,0,0,0,53096,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69720,0,0,0,33084,0,0 -17-43095898-T-A,17,43095898,rs1597882068,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln206His,p.Gln206His,c.618A>T,missense_variant,,,,2,832924,0.000002401179459350433,0,0,afr,0.000021930000000000002,14.2,0.599,0.0500,-0.0300,-0.368,0.0500,0.00,2,15782,0,0,0,984,0,0,0,5150,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,761734,0,0,,,,,0,16456,0,0,0,27296,0,0 -17-43095901-T-C,17,43095901,rs1597882085,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu205Leu,p.Leu205Leu,c.615A>G,synonymous_variant,Likely benign,759823,,1,628476,0.0000015911506565087609,0,0,,,7.06,,0.00,0.0100,1.28,,,0,17692,0,0,0,43722,0,0,0,20952,0,0,0,36044,0,0,0,53098,0,0,0,4148,0,0,0,350012,0,0,,,,,1,69726,0,0,0,33082,0,0 -17-43095904-C-T,17,43095904,rs80357394,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu204Leu,p.Leu204Leu,c.612G>A,synonymous_variant,Likely benign,756892,,1,1461238,6.843512145181004e-7,0,0,,,6.76,,0.0400,-0.0300,0.176,,,0,33472,0,0,0,44708,0,0,0,26108,0,0,0,39670,0,0,0,53370,0,0,0,5768,0,0,1,1111586,0,0,,,,,0,86180,0,0,0,60376,0,0 -17-43095904-C-G,17,43095904,rs80357394,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu204Phe,p.Leu204Phe,c.612G>C,missense_variant,Conflicting interpretations of pathogenicity,55646,,177,1613428,0.00010970430660680241,0,0,nfe,0.00012836,15.3,0.634,0.00,-0.0100,0.176,0.0400,0.0250,1,74926,0,0,0,59982,0,0,0,29580,0,0,0,44876,0,0,0,63980,0,0,0,6084,0,0,173,1179612,0,0,0,910,0,0,0,91012,0,0,3,62466,0,0 -17-43095905-A-C,17,43095905,rs1403004357,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu204Trp,p.Leu204Trp,c.611T>G,missense_variant,Uncertain significance,639275,,2,1613306,0.000001239690424507192,0,0,,,23.0,0.664,0.00,0.00,1.59,0.00,0.846,0,74906,0,0,0,59984,0,0,0,29578,0,0,0,44870,0,0,0,63994,0,0,0,6084,0,0,0,1179516,0,0,0,910,0,0,2,91006,0,0,0,62458,0,0 -17-43095906-ATTC-A,17,43095906,,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu203del,p.Glu203del,c.607_609del,inframe_deletion,,,,2,1461042,0.0000013688860416059223,0,0,nfe,2.999999999999999e-7,16.9,,0.330,-0.320,0.382,,,0,33468,0,0,0,44700,0,0,0,26104,0,0,0,39670,0,0,0,53368,0,0,0,5768,0,0,2,1111432,0,0,,,,,0,86168,0,0,0,60364,0,0 -17-43095906-A-G,17,43095906,rs2154514962,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu204Leu,p.Leu204Leu,c.610T>C,synonymous_variant,Likely benign,1090009,,1,1461042,6.844430208029611e-7,0,0,,,7.94,,0.00,0.0100,0.382,,,0,33468,0,0,0,44700,0,0,0,26104,0,0,0,39670,0,0,0,53368,0,0,0,5768,0,0,1,1111432,0,0,,,,,0,86168,0,0,0,60364,0,0 -17-43095912-G-T,17,43095912,rs2054117377,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln202Lys,p.Gln202Lys,c.604C>A,missense_variant,Uncertain significance,838225,,3,1460314,0.0000020543526940096446,0,0,nfe,2.999999999999999e-7,15.5,0.543,0.210,-0.260,0.498,0.230,0.0150,0,33452,0,0,0,44690,0,0,0,26092,0,0,0,39668,0,0,0,53346,0,0,0,5766,0,0,2,1110850,0,0,,,,,0,86110,0,0,1,60340,0,0 -17-43095918-C-T,17,43095918,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly200Arg,p.Gly200Arg,c.598G>A,missense_variant,,,,2,1459530,0.0000013703041390036519,0,0,,,8.46,0.599,0.00,-0.0300,0.0940,0.890,0.564,0,33426,0,0,0,44682,0,0,0,26082,0,0,0,39658,0,0,0,53338,0,0,0,5764,0,0,1,1110198,0,0,,,,,0,86072,0,0,1,60310,0,0 -17-43095921-C-T,17,43095921,rs1555593622,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val199Met,p.Val199Met,c.595G>A,missense_variant,Uncertain significance,481435,,1,1458610,6.855842205935789e-7,0,0,,,22.6,0.563,0.150,-0.250,0.514,0.130,0.0790,0,33418,0,0,0,44666,0,0,0,26082,0,0,0,39660,0,0,0,53336,0,0,0,5764,0,0,1,1109360,0,0,,,,,0,86028,0,0,0,60296,0,0 -17-43095923-C-A,17,43095923,rs757781708,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-1G>T,,c.594-1G>T,splice_acceptor_variant,Uncertain significance,440453,,1,628046,0.0000015922400588491925,0,0,,,33.0,,0.830,-0.810,7.10,,,0,17686,0,0,0,43682,0,0,0,20942,0,0,0,36040,0,0,0,53054,0,0,0,4148,0,0,0,349802,0,0,,,,,1,69624,0,0,0,33068,0,0 -17-43095924-T-C,17,43095924,rs80358033,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-2A>G,,c.594-2A>G,splice_acceptor_variant,Conflicting interpretations of pathogenicity,55644,,1,1457768,6.859802108428776e-7,0,0,,,33.0,,0.830,-0.810,6.36,,,0,33400,0,0,0,44656,0,0,0,26078,0,0,0,39650,0,0,0,53326,0,0,0,5762,0,0,1,1108658,0,0,,,,,0,85988,0,0,0,60250,0,0 -17-43095924-T-G,17,43095924,rs80358033,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-2A>C,,c.594-2A>C,splice_acceptor_variant,Benign,37686,,94,1609948,0.00005838697895832661,0,0,nfe,0.00006577,34.0,,0.830,-0.810,6.36,,,0,74842,0,0,0,59932,0,0,0,29550,0,0,0,44852,0,0,0,63936,0,0,0,6078,0,0,93,1176692,0,0,0,912,0,0,0,90812,0,0,1,62342,0,0 -17-43095926-T-C,17,43095926,rs80358081,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-4A>G,,c.594-4A>G,splice_region_variant,Likely benign,125898,,8,1608634,0.000004973163566106399,0,0,sas,0.00001429,2.77,,0.00,-0.110,-0.912,,,1,74810,0,0,0,59904,0,0,0,29520,0,0,1,44844,0,0,0,63930,0,0,0,6078,0,0,2,1175552,0,0,0,912,0,0,4,90758,0,0,0,62326,0,0 -17-43095928-G-A,17,43095928,rs1555593629,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-6C>T,,c.594-6C>T,splice_region_variant,Conflicting interpretations of pathogenicity,438944,,5,827440,0.000006042734216378227,0,0,nfe,0.0000012399999999999998,6.45,,0.00,0.00,1.50,,,1,15648,0,0,0,978,0,0,0,5118,0,0,0,3594,0,0,0,276,0,0,0,1608,0,0,4,756774,0,0,,,,,0,16310,0,0,0,27134,0,0 -17-43095931-A-G,17,43095931,rs2154515444,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-9T>C,,c.594-9T>C,intron_variant,Likely benign,1621848,,2,825250,0.000002423508027870342,0,0,nfe,4.4e-7,20.3,,0.0700,-0.160,3.60,,,0,15592,0,0,0,978,0,0,0,5110,0,0,0,3588,0,0,0,276,0,0,0,1606,0,0,2,754794,0,0,,,,,0,16262,0,0,0,27044,0,0 -17-43095934-A-T,17,43095934,rs1555593633,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-12T>A,,c.594-12T>A,intron_variant,,,,1,1449138,6.900654043990289e-7,0,0,,,23.1,,0.430,-0.450,2.91,,,0,33166,0,0,0,44586,0,0,0,25980,0,0,0,39616,0,0,0,53256,0,0,0,5750,0,0,1,1101088,0,0,,,,,0,85694,0,0,0,60002,0,0 -17-43095935-G-T,17,43095935,rs2154515466,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-13C>A,,c.594-13C>A,intron_variant,Uncertain significance,1171986,,1,1447138,6.910191011499939e-7,0,0,,,20.2,,0.190,-0.320,1.15,,,0,33110,0,0,0,44572,0,0,0,25964,0,0,0,39600,0,0,0,53242,0,0,0,5754,0,0,1,1099358,0,0,,,,,0,85612,0,0,0,59926,0,0 -17-43095937-C-CA,17,43095937,rs1555593635,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-16dup,,c.594-16dup,intron_variant,Likely benign,415578,,1,1444772,6.92150733818208e-7,0,0,,,17.4,,0.00,0.0100,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,1,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 -17-43095937-C-G,17,43095937,rs80358102,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-15G>C,,c.594-15G>C,intron_variant,Likely benign,125896,,49,1444772,0.00003391538595709219,0,0,nfe,0.00003418,8.60,,0.00,0.00,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,49,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 -17-43095937-C-T,17,43095937,rs80358102,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-15G>A,,c.594-15G>A,intron_variant,,,,1,1444772,6.92150733818208e-7,0,0,,,11.3,,0.0700,-0.100,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,1,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 -17-43095941-G-A,17,43095941,rs1567803295,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-19C>T,,c.594-19C>T,intron_variant,Likely benign,1077787,,2,1437616,0.000001391192084673515,0,0,nfe,3.1e-7,14.9,,0.00,0.00,0.815,,,0,32946,0,0,0,44442,0,0,0,25888,0,0,0,39560,0,0,0,53122,0,0,0,5728,0,0,2,1091014,0,0,,,,,0,85322,0,0,0,59594,0,0 -17-43095941-G-T,17,43095941,rs1567803295,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-19C>A,,c.594-19C>A,intron_variant,,,,1,1437614,6.95597010045812e-7,0,0,,,15.4,,0.100,-0.130,0.815,,,0,32946,0,0,0,44442,0,0,0,25888,0,0,0,39560,0,0,0,53122,0,0,0,5728,0,0,1,1091014,0,0,,,,,0,85320,0,0,0,59594,0,0 -17-43095942-T-C,17,43095942,rs80358017,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-20A>G,,c.594-20A>G,intron_variant,Likely benign,125897,,28,1438184,0.0000194689970128996,0,0,nfe,0.00001694,15.1,,0.0300,-0.120,0.157,,,0,32944,0,0,0,44436,0,0,0,25878,0,0,0,39572,0,0,0,53150,0,0,0,5730,0,0,27,1091546,0,0,,,,,0,85330,0,0,1,59598,0,0 -17-43095943-C-A,17,43095943,rs2154515580,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-21G>T,,c.594-21G>T,intron_variant,,,,1,625914,0.0000015976635767853092,0,0,,,13.8,,0.00,0.00,0.377,,,0,17668,0,0,0,43442,0,0,0,20842,0,0,0,36014,0,0,0,52842,0,0,0,4148,0,0,0,348660,0,0,,,,,1,69318,0,0,0,32980,0,0 -17-43095944-C-T,17,43095944,rs1597882236,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-22G>A,,c.594-22G>A,intron_variant,,,,4,807960,0.000004950740135650279,0,0,nfe,0.00000108,14.1,,0.00,0.0200,0.492,,,0,15184,0,0,0,962,0,0,0,5012,0,0,0,3532,0,0,0,270,0,0,0,1578,0,0,3,739030,0,0,,,,,0,15900,0,0,1,26492,0,0 -17-43095948-T-C,17,43095948,rs2054120127,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-26A>G,,c.594-26A>G,intron_variant,,,,1,1405460,7.115108220796038e-7,0,0,,,23.3,,0.670,-0.500,4.61,,,0,32288,0,0,0,44116,0,0,0,25640,0,0,1,39400,0,0,0,52942,0,0,0,5660,0,0,0,1062370,0,0,,,,,0,84490,0,0,0,58554,0,0 -17-43095950-A-G,17,43095950,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-28T>C,,c.594-28T>C,intron_variant,,,,1,776342,0.0000012880921037377856,0,0,,,22.9,,0.490,-0.430,2.33,,,0,14558,0,0,0,904,0,0,0,4788,0,0,0,3382,0,0,0,268,0,0,0,1508,0,0,1,710252,0,0,,,,,0,15238,0,0,0,25444,0,0 -17-43095951-G-A,17,43095951,rs1338886710,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-29C>T,,c.594-29C>T,intron_variant,,,,1,1402000,7.132667617689016e-7,0,0,,,21.1,,0.170,-0.220,2.92,,,0,32248,0,0,0,44072,0,0,0,25606,0,0,0,39368,0,0,0,52884,0,0,0,5654,0,0,1,1059354,0,0,,,,,0,84380,0,0,0,58434,0,0 -17-43095956-A-G,17,43095956,rs147314539,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-34T>C,,c.594-34T>C,intron_variant,Benign/Likely benign,225726,,266,1536138,0.00017316152585249503,0,0,eas,0.0020584500000000016,10.6,,0.00,-0.0200,0.0260,,,2,73432,0,0,7,59088,0,0,0,28912,0,0,108,44428,0,0,0,63400,0,0,4,5918,0,0,68,1111410,0,0,0,912,0,0,61,88694,0,0,16,59944,0,0 -17-43095958-T-C,17,43095958,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-36A>G,,c.594-36A>G,intron_variant,,,,1,736422,0.000001357917063857408,0,0,,,14.4,,0.0300,-0.0300,1.09,,,0,13746,0,0,0,862,0,0,0,4520,0,0,0,3170,0,0,0,254,0,0,0,1426,0,0,1,673858,0,0,,,,,0,14456,0,0,0,24130,0,0 -17-43095961-T-C,17,43095961,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-39A>G,,c.594-39A>G,intron_variant,,,,1,619912,0.000001613132186503891,0,0,,,13.9,,0.150,-0.100,-0.118,,,0,17588,0,0,0,42550,0,0,0,20710,0,0,1,35912,0,0,0,52314,0,0,0,4132,0,0,0,345288,0,0,,,,,0,68658,0,0,0,32760,0,0 -17-43095965-A-C,17,43095965,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-43T>G,,c.594-43T>G,intron_variant,,,,3,706098,0.000004248702021532422,0,0,nfe,5.199999999999999e-7,7.81,,0.100,-0.210,-0.933,,,0,13114,0,0,0,820,0,0,0,4376,0,0,0,3018,0,0,0,236,0,0,0,1384,0,0,2,646130,0,0,,,,,0,13890,0,0,1,23130,0,0 -17-43095966-T-C,17,43095966,rs778735627,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-44A>G,,c.594-44A>G,intron_variant,,,,36,1477278,0.000024369143790132934,0,0,afr,0.00020596999999999998,0.722,,0.00,0.00,-2.09,,,22,72144,0,0,0,58236,0,0,0,28528,0,0,0,44078,0,0,11,62892,0,0,0,5824,0,0,1,1059586,0,0,0,912,0,0,2,87134,0,0,0,57944,0,0 -17-43095967-G-T,17,43095967,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-45C>A,,c.594-45C>A,intron_variant,,,,1,1319020,7.58138618064927e-7,0,0,,,1.37,,0.00,0.0200,-0.225,,,0,30580,0,0,0,42812,0,0,0,25010,0,0,0,38840,0,0,0,52132,0,0,0,5510,0,0,1,986412,0,0,,,,,0,82142,0,0,0,55582,0,0 -17-43095970-T-C,17,43095970,rs747958543,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-48A>G,,c.594-48A>G,intron_variant,,,,5,613846,0.000008145365449966278,0,0,sas,0.000019710000000000003,4.80,,0.00,-0.0100,0.832,,,0,17476,0,0,0,41650,0,0,0,20620,0,0,0,35768,0,0,0,51678,0,0,0,4122,0,0,1,341926,0,0,,,,,4,68078,0,0,0,32528,0,0 -17-43095972-C-T,17,43095972,rs2154515823,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-50G>A,,c.594-50G>A,intron_variant,,,,1,1277664,7.826783880582062e-7,0,0,,,0.210,,0.00,-0.0300,-0.232,,,0,29752,0,0,0,42094,0,0,0,24712,0,0,0,38572,0,0,0,51620,0,0,0,5418,0,0,0,950366,0,0,,,,,1,80886,0,0,0,54244,0,0 -17-43095973-A-G,17,43095973,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-51T>C,,c.594-51T>C,intron_variant,,,,1,1277276,7.829161434177109e-7,0,0,,,8.13,,0.00,-0.0600,0.794,,,0,29762,0,0,0,42032,0,0,0,24724,0,0,0,38556,0,0,0,51626,0,0,0,5418,0,0,1,950090,0,0,,,,,0,80824,0,0,0,54244,0,0 -17-43095974-G-C,17,43095974,rs2154515830,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-52C>G,,c.594-52C>G,intron_variant,,,,3,611036,0.000004909694355160744,0,0,nfe,0.0000023400000000000005,0.0850,,0.00,0.00,-0.485,,,0,17426,0,0,0,41240,0,0,0,20584,0,0,0,35662,0,0,0,51342,0,0,0,4112,0,0,3,340494,0,0,,,,,0,67730,0,0,0,32446,0,0 -17-43095978-T-A,17,43095978,rs1555593648,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-56A>T,,c.594-56A>T,intron_variant,Likely benign,491180,,8,607218,0.000013174840008036653,0,0,eas,0.00009148999999999997,6.91,,0.0100,0.0100,0.893,,,0,17338,0,0,0,40652,0,0,0,20552,0,0,7,35542,0,0,0,50940,0,0,0,4106,0,0,0,338328,0,0,,,,,0,67454,0,0,1,32306,0,0 -17-43095981-C-A,17,43095981,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-59G>T,,c.594-59G>T,intron_variant,,,,1,1215182,8.229219985154487e-7,0,0,,,1.15,,0.00,0.0100,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,0,896442,0,0,,,,,1,78976,0,0,0,52248,0,0 -17-43095981-C-G,17,43095981,rs2054121070,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-59G>C,,c.594-59G>C,intron_variant,,,,1,1215184,8.229206441164466e-7,0,0,,,1.24,,0.00,-0.0400,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,1,896442,0,0,,,,,0,78978,0,0,0,52248,0,0 -17-43095981-C-CA,17,43095981,,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-60dup,,c.594-60dup,intron_variant,,,,2,1215184,0.0000016458412882328932,0,0,,,4.21,,0.00,-0.0100,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,1,896442,0,0,,,,,0,78978,0,0,1,52248,0,0 -17-43095981-C-T,17,43095981,rs2054121070,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-59G>A,,c.594-59G>A,intron_variant,,,,4,1367352,0.000002925362306121613,0,0,sas,0.00001614,1.51,,0.00,0.00,0.310,,,0,69952,0,0,0,56040,0,0,0,27766,0,0,0,43198,0,0,0,61268,0,0,0,5606,0,0,0,964464,0,0,0,912,0,0,4,83806,0,0,0,54340,0,0 -17-43095983-A-C,17,43095983,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-61T>G,,c.594-61T>G,intron_variant,,,,1,601398,0.0000016627923604667791,0,0,,,4.87,,0.00,0.00,0.401,,,0,17202,0,0,0,39794,0,0,0,20498,0,0,0,35342,0,0,0,50252,0,0,0,4104,0,0,1,335222,0,0,,,,,0,66878,0,0,0,32106,0,0 -17-43095986-G-A,17,43095986,rs1054128964,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-64C>T,,c.594-64C>T,intron_variant,Likely benign,491181,,38,1338216,0.000028396013797473652,0,0,amr,0.0004822900000000002,1.45,,0.0200,0.0100,0.172,,,0,69374,0,0,36,55350,0,0,0,27576,0,0,0,42908,0,0,0,60664,0,0,0,5552,0,0,0,939662,0,0,0,912,0,0,0,82890,0,0,2,53328,0,0 -17-43095986-G-T,17,43095986,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-64C>A,,c.594-64C>A,intron_variant,,,,1,1186032,8.431475710604773e-7,0,0,,,1.08,,0.00,0.0100,0.172,,,0,27932,0,0,0,40074,0,0,0,24104,0,0,0,37710,0,0,0,50048,0,0,0,5236,0,0,0,871634,0,0,,,,,1,78058,0,0,0,51236,0,0 -17-43095988-C-T,17,43095988,rs972137244,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-66G>A,,c.594-66G>A,intron_variant,,,,3,1172468,0.0000025587052269230375,0,0,,,0.127,,0.00,0.00,-0.958,,,0,27628,0,0,0,39724,0,0,1,24016,0,0,0,37518,0,0,0,49836,0,0,0,5210,0,0,0,860072,0,0,,,,,1,77754,0,0,1,50710,0,0 -17-43095989-C-G,17,43095989,rs115632775,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.594-67G>C,,c.594-67G>C,intron_variant,,,,1,152124,0.000006573584707212537,0,0,,,4.85,,0.00,-0.0400,0.740,,,0,41420,0,0,1,15274,0,0,0,3472,0,0,0,5196,0,0,0,10602,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43095989-C-A,17,43095989,rs115632775,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-67G>T,,c.594-67G>T,intron_variant,,,,187,1285514,0.00014546710498679905,0,0,afr,0.0022196800000000004,4.73,,0.0100,0.0100,0.740,,,173,68426,0,0,4,54522,0,0,0,27212,0,0,0,42360,0,0,0,59966,0,0,0,5414,0,0,5,893608,0,0,0,912,0,0,0,81480,0,0,5,51614,0,0 -17-43095992-G-A,17,43095992,rs2154515931,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-70C>T,,c.594-70C>T,intron_variant,,,,3,1133340,0.000002647043252686749,0,0,nfe,9.699999999999998e-7,1.08,,0.0100,0.0100,-0.0710,,,0,26870,0,0,0,39170,0,0,0,23744,0,0,0,37162,0,0,0,49178,0,0,0,5126,0,0,3,825984,0,0,,,,,0,76632,0,0,0,49474,0,0 -17-43095992-G-C,17,43095992,rs2154515931,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-70C>G,,c.594-70C>G,intron_variant,,,,1,1133340,8.82347750895583e-7,0,0,,,0.940,,0.0200,0.0100,-0.0710,,,0,26870,0,0,0,39170,0,0,0,23744,0,0,0,37162,0,0,0,49178,0,0,0,5126,0,0,1,825984,0,0,,,,,0,76632,0,0,0,49474,0,0 -17-43095994-T-C,17,43095994,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-72A>G,,c.594-72A>G,intron_variant,,,,1,1113408,8.981433580502386e-7,0,0,,,6.80,,0.00,-0.0200,0.682,,,0,26456,0,0,0,38758,0,0,0,23602,0,0,0,36868,0,0,0,48824,0,0,0,5090,0,0,0,808904,0,0,,,,,1,76028,0,0,0,48878,0,0 -17-43095996-A-G,17,43095996,rs2054121595,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-74T>C,,c.594-74T>C,intron_variant,,,,3,740706,0.0000040501899539088385,0,0,sas,0.00001128,7.04,,0.00,-0.0400,0.660,,,0,58302,0,0,0,53248,0,0,0,23862,0,0,0,39774,0,0,0,59030,0,0,0,4394,0,0,0,396868,0,0,0,912,0,0,3,70584,0,0,0,33732,0,0 -17-43097169-A-C,17,43097169,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+75T>G,,c.593+75T>G,intron_variant,,,,1,1244864,8.033006015114904e-7,0,0,,,10.1,,0.00,0.00,2.59,,,1,27754,0,0,0,36622,0,0,0,23628,0,0,0,38564,0,0,0,52632,0,0,0,5070,0,0,0,931778,0,0,,,,,0,76018,0,0,0,52798,0,0 -17-43097169-A-G,17,43097169,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+75T>C,,c.593+75T>C,intron_variant,,,,1,1244864,8.033006015114904e-7,0,0,,,10.4,,0.00,0.00,2.59,,,0,27754,0,0,0,36622,0,0,0,23628,0,0,0,38564,0,0,0,52632,0,0,0,5070,0,0,1,931778,0,0,,,,,0,76018,0,0,0,52798,0,0 -17-43097172-G-T,17,43097172,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+72C>A,,c.593+72C>A,intron_variant,,,,8,1262996,0.000006334145159604622,0,0,eas,0.00002058,0.0740,,0.00,0.00,-1.75,,,0,28174,0,0,0,36632,0,0,0,23788,0,0,3,38652,0,0,0,52660,0,0,0,5164,0,0,0,948156,0,0,,,,,1,76346,0,0,4,53424,0,0 -17-43097178-T-C,17,43097178,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+66A>G,,c.593+66A>G,intron_variant,,,,2,681004,0.000002936840312244862,0,0,,,3.40,,0.00,-0.0100,-0.908,,,1,12698,0,0,0,794,0,0,0,4170,0,0,0,2880,0,0,0,224,0,0,0,1356,0,0,1,623418,0,0,,,,,0,13312,0,0,0,22152,0,0 -17-43097179-C-T,17,43097179,rs920856985,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+65G>A,,c.593+65G>A,intron_variant,,,,22,1442022,0.000015256355312193573,0,0,nfe,0.00001261,3.77,,0.00,0.00,-0.741,,,0,70482,0,0,0,54426,0,0,0,27764,0,0,0,43994,0,0,0,63600,0,0,0,5638,0,0,20,1035854,0,0,0,912,0,0,1,82896,0,0,1,56456,0,0 -17-43097184-C-T,17,43097184,rs2054173076,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+60G>A,,c.593+60G>A,intron_variant,Likely benign,1325670,,14,1329234,0.000010532381807868291,0,0,sas,0.00010476999999999999,12.6,,0.00,0.00,0.396,,,0,30122,0,0,0,41852,0,0,0,24948,0,0,0,38982,0,0,0,53192,0,0,0,5458,0,0,0,998456,0,0,,,,,14,80374,0,0,0,55850,0,0 -17-43097185-TTAA-T,17,43097185,,TTAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+56_593+58del,,c.593+56_593+58del,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,13.3,,0.0100,0.0100,2.76,,,0,16936,0,0,0,41072,0,0,0,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,1,347594,0,0,,,,,0,66574,0,0,0,32628,0,0 -17-43097185-T-G,17,43097185,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+59A>C,,c.593+59A>C,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,15.2,,0.00,0.00,2.76,,,0,16936,0,0,0,41072,0,0,1,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,0,347594,0,0,,,,,0,66574,0,0,0,32628,0,0 -17-43097185-T-C,17,43097185,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+59A>G,,c.593+59A>G,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,15.4,,0.00,-0.0100,2.76,,,0,16936,0,0,0,41072,0,0,0,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,0,347594,0,0,,,,,1,66574,0,0,0,32628,0,0 -17-43097187-A-C,17,43097187,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+57T>G,,c.593+57T>G,intron_variant,,,,2,1330498,0.0000015031965474581698,0,0,nfe,3.3e-7,15.4,,0.00,0.00,2.02,,,0,30150,0,0,0,41922,0,0,0,24998,0,0,0,39018,0,0,0,53196,0,0,0,5468,0,0,2,999404,0,0,,,,,0,80502,0,0,0,55840,0,0 -17-43097188-A-G,17,43097188,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+56T>C,,c.593+56T>C,intron_variant,,,,1,619666,0.0000016137725807128356,0,0,,,15.0,,0.00,0.00,0.608,,,0,17050,0,0,0,41446,0,0,0,20630,0,0,0,35966,0,0,0,52996,0,0,0,4060,0,0,0,347922,0,0,,,,,1,66906,0,0,0,32690,0,0 -17-43097189-T-C,17,43097189,rs188273106,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+55A>G,,c.593+55A>G,intron_variant,,,,8,1507434,0.000005307031684305913,0,0,eas,0.00007340999999999998,15.3,,0.00,0.00,-0.153,,,0,72248,0,0,0,57698,0,0,0,28680,0,0,7,44310,0,0,0,63868,0,0,0,5804,0,0,0,1088922,0,0,0,912,0,0,0,86184,0,0,1,58808,0,0 -17-43097191-T-C,17,43097191,rs1398355525,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+53A>G,,c.593+53A>G,intron_variant,,,,3,772534,0.0000038833242290954185,0,0,nfe,0.0000019200000000000003,10.3,,0.00,-0.0100,-0.198,,,0,58534,0,0,0,56990,0,0,0,24134,0,0,0,41170,0,0,0,63594,0,0,0,4386,0,0,3,416100,0,0,0,912,0,0,0,71906,0,0,0,34808,0,0 -17-43097191-TTAAC-T,17,43097191,rs1468140125,TTAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+49_593+52del,,c.593+49_593+52del,intron_variant,,,,1,152148,0.000006572547782422378,0,0,,,12.1,,0.00,0.0100,-0.198,,,1,41428,0,0,0,15282,0,0,0,3472,0,0,0,5206,0,0,0,10596,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 -17-43097196-T-A,17,43097196,rs2054173665,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+48A>T,,c.593+48A>T,intron_variant,,,,1,152152,0.000006572374993427625,0,0,,,9.92,,0.00,0.00,0.152,,,0,41442,0,0,0,15280,0,0,0,3472,0,0,0,5196,0,0,0,10598,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43097196-T-C,17,43097196,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+48A>G,,c.593+48A>G,intron_variant,,,,5,1407354,0.0000035527663970827527,0,0,sas,0.00000958,10.6,,0.00,0.00,0.152,,,0,31958,0,0,0,43204,0,0,0,25648,0,0,0,39388,0,0,0,53282,0,0,0,5640,0,0,2,1066622,0,0,,,,,3,83142,0,0,0,58470,0,0 -17-43097197-A-G,17,43097197,rs1285710590,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+47T>C,,c.593+47T>C,intron_variant,,,,2,1408562,0.0000014198878004660072,0,0,,,15.5,,0.0100,0.00,0.495,,,1,32008,0,0,1,43430,0,0,0,25684,0,0,0,39386,0,0,0,53310,0,0,0,5656,0,0,0,1067128,0,0,,,,,0,83420,0,0,0,58540,0,0 -17-43097200-T-C,17,43097200,rs1404502873,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+44A>G,,c.593+44A>G,intron_variant,,,,3,945750,0.0000031720856463124504,0,0,,,2.79,,0.00,0.00,-0.673,,,1,56272,0,0,0,16218,0,0,0,8402,0,0,1,8648,0,0,0,10868,0,0,0,1876,0,0,0,794012,0,0,0,912,0,0,0,20478,0,0,1,28064,0,0 -17-43097202-G-T,17,43097202,rs1393779959,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+42C>A,,c.593+42C>A,intron_variant,,,,2,1579696,0.0000012660663823925615,0,0,,,2.86,,0.00,0.0100,-0.637,,,0,73892,0,0,0,59160,0,0,0,29314,0,0,0,44682,0,0,2,63902,0,0,0,6010,0,0,0,1151474,0,0,0,912,0,0,0,89014,0,0,0,61336,0,0 -17-43097209-A-G,17,43097209,rs2154520719,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+35T>C,,c.593+35T>C,intron_variant,,,,1,627156,0.0000015944996141310934,0,0,,,14.6,,0.0200,-0.0100,0.934,,,0,17624,0,0,0,43538,0,0,0,20946,0,0,0,36002,0,0,0,53112,0,0,0,4128,0,0,1,349690,0,0,,,,,0,69088,0,0,0,33028,0,0 -17-43097210-C-T,17,43097210,rs2154520726,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+34G>A,,c.593+34G>A,intron_variant,,,,10,1444896,0.000006920913339091533,0,0,nfe,0.00000461,6.61,,0.00,0.00,-0.381,,,0,33020,0,0,0,44494,0,0,0,26004,0,0,0,39566,0,0,0,53382,0,0,0,5728,0,0,10,1097582,0,0,,,,,0,85246,0,0,0,59874,0,0 -17-43097212-A-G,17,43097212,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+32T>C,,c.593+32T>C,intron_variant,,,,2,820108,0.0000024387031951889263,0,0,nfe,4.4e-7,12.9,,0.00,0.00,0.843,,,0,15448,0,0,0,974,0,0,0,5064,0,0,0,3590,0,0,0,272,0,0,0,1604,0,0,2,750034,0,0,,,,,0,16208,0,0,0,26914,0,0 -17-43097214-C-G,17,43097214,rs1488614291,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+30G>C,,c.593+30G>C,intron_variant,,,,1,1450936,6.892102752981523e-7,0,0,,,9.04,,0.00,0.00,0.248,,,0,33188,0,0,0,44624,0,0,0,26046,0,0,1,39592,0,0,0,53388,0,0,0,5748,0,0,0,1102656,0,0,,,,,0,85638,0,0,0,60056,0,0 -17-43097215-T-A,17,43097215,rs771982743,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+29A>T,,c.593+29A>T,intron_variant,,,,15,1604300,0.000009349872218413016,0,0,nfe,0.00000769,11.2,,0.00,0.00,0.873,,,0,74644,0,0,0,59916,0,0,0,29538,0,0,0,44806,0,0,0,63994,0,0,0,6064,0,0,15,1171754,0,0,0,912,0,0,0,90492,0,0,0,62180,0,0 -17-43097216-T-C,17,43097216,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+28A>G,,c.593+28A>G,intron_variant,,,,5,824844,0.0000060617522828559095,0,0,nfe,0.00000194,11.2,,0.0100,-0.0100,0.199,,,0,15554,0,0,0,976,0,0,0,5100,0,0,0,3602,0,0,0,270,0,0,0,1610,0,0,5,754364,0,0,,,,,0,16314,0,0,0,27054,0,0 -17-43097218-A-C,17,43097218,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+26T>G,,c.593+26T>G,intron_variant,,,,1,826082,0.0000012105335789909476,0,0,,,13.6,,0.0100,-0.0300,0.187,,,0,15588,0,0,0,978,0,0,0,5108,0,0,0,3598,0,0,0,270,0,0,0,1612,0,0,0,755486,0,0,,,,,0,16338,0,0,1,27104,0,0 -17-43097219-T-A,17,43097219,rs929583740,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+25A>T,,c.593+25A>T,intron_variant,,,,12,1606504,0.0000074696359299447744,0,0,nfe,0.00000545,1.56,,0.00,0.00,-4.76,,,0,74728,0,0,0,59924,0,0,0,29544,0,0,0,44820,0,0,0,64010,0,0,0,6072,0,0,12,1173670,0,0,0,912,0,0,0,90562,0,0,0,62262,0,0 -17-43097219-T-C,17,43097219,rs929583740,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+25A>G,,c.593+25A>G,intron_variant,,,,2,1454276,0.0000013752547659453914,0,0,,,2.06,,0.0100,0.00,-4.76,,,0,33270,0,0,0,44640,0,0,0,26072,0,0,0,39614,0,0,0,53390,0,0,0,5756,0,0,1,1105636,0,0,,,,,1,85728,0,0,0,60170,0,0 -17-43097222-A-G,17,43097222,rs1425065873,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+22T>C,,c.593+22T>C,intron_variant,,,,2,1456108,0.0000013735244913152045,0,0,,,9.60,,0.0100,-0.0100,0.515,,,0,33332,0,0,0,44674,0,0,0,26084,0,0,0,39622,0,0,0,53398,0,0,2,5764,0,0,0,1107214,0,0,,,,,0,85808,0,0,0,60212,0,0 -17-43097223-C-T,17,43097223,rs2054175027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+21G>A,,c.593+21G>A,intron_variant,,,,1,628160,0.0000015919510952623535,0,0,,,3.30,,0.00,0.00,-0.484,,,0,17680,0,0,0,43708,0,0,0,20974,0,0,0,36018,0,0,0,53124,0,0,0,4146,0,0,0,349928,0,0,,,,,0,69514,0,0,1,33068,0,0 -17-43097226-AG-A,17,43097226,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+17del,,c.593+17del,intron_variant,,,,1,628154,0.000001591966301257335,0,0,,,11.9,,0.00,0.0100,2.82,,,0,17682,0,0,0,43708,0,0,0,20972,0,0,0,36016,0,0,0,53124,0,0,0,4144,0,0,1,349926,0,0,,,,,0,69514,0,0,0,33068,0,0 -17-43097227-G-A,17,43097227,rs1439349282,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+17C>T,,c.593+17C>T,intron_variant,Likely benign,1134625,,1,152064,0.000006576178451178451,0,0,,,13.8,,0.00,0.00,0.652,,,1,41394,0,0,0,15264,0,0,0,3466,0,0,0,5202,0,0,0,10578,0,0,0,316,0,0,0,68014,0,0,0,910,0,0,0,4826,0,0,0,2094,0,0 -17-43097227-G-T,17,43097227,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+17C>A,,c.593+17C>A,intron_variant,,,,1,830694,0.0000012038127156329527,0,0,,,13.4,,0.00,0.00,0.652,,,0,15736,0,0,0,980,0,0,0,5134,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,759660,0,0,,,,,0,16426,0,0,0,27240,0,0 -17-43097228-G-A,17,43097228,rs773139281,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+16C>T,,c.593+16C>T,intron_variant,Likely benign,240827,,3,1458952,0.000002056270528434109,0,0,,,16.2,,0.00,0.00,0.0500,,,0,33424,0,0,0,44690,0,0,0,26106,0,0,1,39636,0,0,0,53398,0,0,1,5762,0,0,0,1109642,0,0,,,,,0,85996,0,0,1,60298,0,0 -17-43097228-G-T,17,43097228,rs773139281,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+16C>A,,c.593+16C>A,intron_variant,Likely benign,531531,,3,1611004,0.0000018621927692296233,0,0,,,15.9,,0.00,0.00,0.0500,,,0,74826,0,0,0,59952,0,0,0,29574,0,0,1,44828,0,0,0,63982,0,0,0,6078,0,0,1,1177656,0,0,0,912,0,0,1,90810,0,0,0,62386,0,0 -17-43097228-G-C,17,43097228,rs773139281,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+16C>G,,c.593+16C>G,intron_variant,Likely benign,381763,,2,1611004,0.0000012414618461530821,0,0,,,16.2,,0.0100,-0.0100,0.0500,,,0,74826,0,0,0,59952,0,0,0,29574,0,0,0,44828,0,0,0,63982,0,0,0,6078,0,0,2,1177656,0,0,0,912,0,0,0,90810,0,0,0,62386,0,0 -17-43097230-T-C,17,43097230,rs1481255103,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+14A>G,,c.593+14A>G,intron_variant,Likely benign,2056610,,1,628280,0.0000015916470363532183,0,0,,,11.6,,0.0100,-0.0200,0.673,,,0,17684,0,0,0,43718,0,0,0,20972,0,0,1,36018,0,0,0,53126,0,0,0,4148,0,0,0,349966,0,0,,,,,0,69578,0,0,0,33070,0,0 -17-43097231-CTCTT-C,17,43097231,rs753624573,CTCTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+9_593+12del,,c.593+9_593+12del,intron_variant,Likely benign,531456,,5,1612332,0.0000031010982849686046,0,0,afr,0.000017440000000000002,10.6,,0.00,0.0100,0.646,,,4,75022,0,0,0,60008,0,0,0,29582,0,0,0,44832,0,0,0,64010,0,0,0,6060,0,0,0,1178598,0,0,0,912,0,0,0,90872,0,0,1,62436,0,0 -17-43097233-CTT-C,17,43097233,rs1555594025,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+9_593+10del,,c.593+9_593+10del,intron_variant,Likely benign,531452,,1,628396,0.0000015913532231268182,0,0,,,10.4,,0.00,0.0200,0.0880,,,0,17690,0,0,0,43728,0,0,0,20976,0,0,1,36020,0,0,0,53132,0,0,0,4148,0,0,0,349994,0,0,,,,,0,69634,0,0,0,33074,0,0 -17-43097234-T-C,17,43097234,rs80358187,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+10A>G,,c.593+10A>G,intron_variant,Uncertain significance,125895,,1,628408,0.000001591322834846151,0,0,,,13.9,,0.0100,-0.0200,0.603,,,0,17690,0,0,0,43730,0,0,0,20976,0,0,0,36018,0,0,0,53132,0,0,0,4148,0,0,1,350002,0,0,,,,,0,69640,0,0,0,33072,0,0 -17-43097235-T-C,17,43097235,rs80358133,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+9A>G,,c.593+9A>G,intron_variant,Conflicting interpretations of pathogenicity,37685,,50,1460796,0.00003422791409615032,0,0,nfe,0.00003375,10.2,,0.0200,-0.0300,1.16,,,1,33460,0,0,0,44712,0,0,0,26120,0,0,0,39644,0,0,0,53408,0,0,0,5766,0,0,49,1111246,0,0,,,,,0,86092,0,0,0,60348,0,0 -17-43097236-T-C,17,43097236,rs863224421,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+8A>G,,c.593+8A>G,splice_region_variant,Likely benign,215876,,3,780636,0.0000038430203065193,0,0,nfe,0.0000019100000000000003,8.24,,0.00,0.0100,0.0980,,,0,59146,0,0,0,59012,0,0,0,24446,0,0,0,41228,0,0,0,63752,0,0,0,4464,0,0,3,418030,0,0,0,912,0,0,0,74476,0,0,0,35170,0,0 -17-43097238-A-C,17,43097238,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+6T>G,,c.593+6T>G,intron_variant,,,,2,628436,0.000003182503866742198,0,0,nfe,9.5e-7,15.7,,0.210,-0.280,3.03,,,0,17690,0,0,0,43730,0,0,0,20976,0,0,0,36022,0,0,0,53132,0,0,0,4148,0,0,2,350010,0,0,,,,,0,69654,0,0,0,33074,0,0 -17-43097239-C-T,17,43097239,rs1555594030,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+5G>A,,c.593+5G>A,intron_variant,Uncertain significance,479237,,2,1461070,0.000001368859808222741,0,0,nfe,2.999999999999999e-7,23.1,,0.800,-0.760,7.04,,,0,33468,0,0,0,44714,0,0,0,26120,0,0,0,39652,0,0,0,53406,0,0,0,5768,0,0,2,1111492,0,0,,,,,0,86096,0,0,0,60354,0,0 -17-43097240-T-C,17,43097240,rs80358154,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+4A>G,,c.593+4A>G,intron_variant,Conflicting interpretations of pathogenicity,55643,,1,832676,0.0000012009473072359478,0,0,,,20.2,,0.310,-0.310,4.62,,,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761506,0,0,,,,,0,16450,0,0,0,27282,0,0 -17-43097241-C-T,17,43097241,rs80358013,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+3G>A,,c.593+3G>A,intron_variant,Benign/Likely benign,91657,,30,1613494,0.000018593189686481637,0,0,afr,0.00021967999999999998,9.67,,0.0100,0.0100,1.03,,,24,75034,0,0,0,60010,0,0,0,29596,0,0,0,44850,0,0,0,64022,0,0,2,6060,0,0,0,1179610,0,0,0,912,0,0,1,90926,0,0,3,62474,0,0 -17-43097245-T-G,17,43097245,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser198Arg,p.Ser198Arg,c.592A>C,missense_variant,,,,1,1461288,6.843277984900992e-7,0,0,,,24.4,0.629,0.0700,-0.0600,4.52,0.140,0.731,0,33476,0,0,0,44714,0,0,0,26128,0,0,0,39654,0,0,0,53410,0,0,0,5768,0,0,1,1111654,0,0,,,,,0,86122,0,0,0,60362,0,0 -17-43097246-G-A,17,43097246,rs1799965,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys197Cys,p.Cys197Cys,c.591C>T,splice_region_variant,Benign,55642,,1893,1613468,0.001173249175068858,2,0,nfe,0.00113769,18.3,,0.130,-0.200,3.92,,,17,75024,0,0,40,60004,0,0,9,29600,0,0,0,44846,0,0,326,63976,0,0,8,6060,0,0,1404,1179618,1,0,0,912,0,0,40,90948,1,0,49,62480,0,0 -17-43097247-C-T,17,43097247,rs2154521053,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys197Tyr,p.Cys197Tyr,c.590G>A,missense_variant,,,,1,628466,0.0000015911759745157255,0,0,,,0.192,0.541,0.0100,0.00,-0.478,1.00,0.00,0,17692,0,0,0,43728,0,0,0,20976,0,0,1,36024,0,0,0,53132,0,0,0,4148,0,0,0,350006,0,0,,,,,0,69682,0,0,0,33078,0,0 -17-43097250-T-A,17,43097250,rs1555594039,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr196Phe,p.Tyr196Phe,c.587A>T,missense_variant,Uncertain significance,462680,,7,832980,0.000008403563110758962,0,0,nfe,0.00000382,7.77,0.571,0.0100,-0.0200,-0.109,0.0700,0.622,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761788,0,0,,,,,0,16456,0,0,0,27288,0,0 -17-43097255-T-C,17,43097255,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala194Ala,p.Ala194Ala,c.582A>G,synonymous_variant,,,,1,628484,0.0000015911304026832823,0,0,,,4.83,,0.0100,0.00,0.104,,,0,17688,0,0,0,43734,0,0,0,20978,0,0,1,36022,0,0,0,53134,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69694,0,0,0,33074,0,0 -17-43097258-C-T,17,43097258,rs759197544,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys193Lys,p.Lys193Lys,c.579G>A,synonymous_variant,Likely benign,427322,,1,628470,0.0000015911658472162553,0,0,,,1.77,,0.00,0.00,0.282,,,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36022,0,0,1,53136,0,0,0,4148,0,0,0,349998,0,0,,,,,0,69686,0,0,0,33076,0,0 -17-43097265-A-T,17,43097265,rs80357142,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val191Asp,p.Val191Asp,c.572T>A,missense_variant,Conflicting interpretations of pathogenicity,55641,,2,628514,0.000003182108910859583,0,0,nfe,9.5e-7,21.8,0.637,0.0100,0.00,0.727,0.00,0.00,0,17692,0,0,0,43734,0,0,0,20978,0,0,0,36020,0,0,0,53138,0,0,0,4148,0,0,2,350028,0,0,,,,,0,69698,0,0,0,33078,0,0 -17-43097266-C-T,17,43097266,rs80357090,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val191Ile,p.Val191Ile,c.571G>A,missense_variant,Benign,37684,,162,1613640,0.0001003941399568677,0,0,eas,0.001529569999999999,8.79,0.532,0.0100,-0.0300,1.16,0.0900,0.00,13,74986,0,0,0,60006,0,0,0,29602,0,0,83,44842,0,0,0,63984,0,0,0,6062,0,0,30,1179796,0,0,0,912,0,0,13,90970,0,0,23,62480,0,0 -17-43097267-G-T,17,43097267,rs201536070,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr190Thr,p.Thr190Thr,c.570C>A,synonymous_variant,Likely benign,184888,,1,1461362,6.842931457092767e-7,0,0,,,0.624,,0.0300,-0.0500,-0.0300,,,0,33470,0,0,0,44716,0,0,0,26128,0,0,0,39646,0,0,0,53412,0,0,0,5768,0,0,1,1111740,0,0,,,,,0,86122,0,0,0,60360,0,0 -17-43097267-G-A,17,43097267,rs201536070,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr190Thr,p.Thr190Thr,c.570C>T,synonymous_variant,Likely benign,184512,,90,1613394,0.00005578302634074504,0,0,nfe,0.00005276,0.626,,0.0200,-0.0700,-0.0300,,,1,74918,0,0,0,59978,0,0,0,29594,0,0,3,44832,0,0,5,63954,0,0,0,6060,0,0,76,1179730,0,0,0,910,0,0,0,90944,0,0,5,62474,0,0 -17-43097268-G-A,17,43097268,rs1323835354,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr190Ile,p.Thr190Ile,c.569C>T,missense_variant,,,,1,628468,0.0000015911709108498763,0,0,,,15.2,0.518,0.0100,-0.0300,4.77,0.120,0.806,0,17692,0,0,0,43734,0,0,0,20976,0,0,0,36016,0,0,0,53136,0,0,0,4148,0,0,0,350004,0,0,,,,,1,69686,0,0,0,33076,0,0 -17-43097269-T-C,17,43097269,rs967624732,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr190Ala,p.Thr190Ala,c.568A>G,missense_variant,Uncertain significance,1489611,,1,152238,0.0000065686622262510016,0,0,,,11.4,0.604,0.0100,0.00,0.189,,,0,41458,0,0,0,15276,0,0,0,3472,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43097273-T-C,17,43097273,rs768065826,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu188Glu,p.Glu188Glu,c.564A>G,synonymous_variant,Likely benign,184268,,20,1613668,0.000012394123202542283,0,0,nfe,0.00001107,12.2,,0.0200,-0.0500,2.89,,,0,74934,0,0,0,60006,0,0,0,29592,0,0,0,44856,0,0,0,64024,0,0,0,6084,0,0,20,1179830,0,0,0,912,0,0,0,90966,0,0,0,62464,0,0 -17-43097275-C-A,17,43097275,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu188Ter,p.Glu188Ter,c.562G>T,stop_gained,,,,1,832852,0.0000012006935205774855,0,0,,,46.0,,0.540,-0.560,8.73,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761678,0,0,,,,,0,16452,0,0,0,27282,0,0 -17-43097275-C-T,17,43097275,rs1555594069,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu188Lys,p.Glu188Lys,c.562G>A,missense_variant,Uncertain significance,491178,,2,832852,0.000002401387041154971,0,0,nfe,4.4e-7,33.0,0.688,0.220,-0.280,8.73,0.00,0.549,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,2,761678,0,0,,,,,0,16452,0,0,0,27282,0,0 -17-43097280-G-T,17,43097280,rs55688530,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser186Tyr,p.Ser186Tyr,c.557C>A,missense_variant,Benign,55635,,790,1613484,0.0004896236962994365,5,0,afr,0.00856566,28.8,0.776,0.0400,-0.0800,8.63,0.00,0.956,685,75010,5,0,44,60008,0,0,0,29596,0,0,0,44832,0,0,0,64006,0,0,3,6060,0,0,12,1179650,0,0,0,912,0,0,1,90940,0,0,45,62470,0,0 -17-43097281-A-C,17,43097281,rs397509298,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser186Ala,p.Ser186Ala,c.556T>G,missense_variant,Uncertain significance,55633,,10,1461192,0.000006843727586792153,1,0,nfe,0.00000455,25.9,0.808,0.0100,0.00,6.21,0.00,0.675,0,33464,0,0,0,44712,0,0,0,26124,0,0,0,39650,0,0,0,53402,0,0,0,5766,0,0,10,1111626,1,0,,,,,0,86092,0,0,0,60356,0,0 -17-43097287-A-T,17,43097287,rs1064795269,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser184Thr,p.Ser184Thr,c.550T>A,missense_variant,Uncertain significance,421643,,5,628404,0.000007956664820720429,0,0,nfe,0.0000045,25.1,0.540,0.0100,0.00,6.21,0.00,0.444,0,17680,0,0,0,43718,0,0,0,20978,0,0,0,36014,0,0,0,53132,0,0,0,4146,0,0,5,350014,0,0,,,,,0,69650,0,0,0,33072,0,0 -17-43097288-T-G,17,43097288,rs1555594077,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly183Gly,p.Gly183Gly,c.549A>C,splice_region_variant,Likely benign,462675,,2,832568,0.0000024022061861613706,0,0,nfe,4.4e-7,14.1,,0.0200,-0.0300,0.273,,,0,15774,0,0,0,982,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,761412,0,0,,,,,0,16452,0,0,0,27280,0,0 -17-43097289-C-A,17,43097289,rs1555594081,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly183Val,p.Gly183Val,c.548G>T,missense_variant,Uncertain significance,441376,,1,832462,0.0000012012560333084273,0,0,,,33.0,0.636,0.610,-0.600,4.75,0.00,0.468,0,15772,0,0,0,982,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,761308,0,0,,,,,0,16452,0,0,0,27280,0,0 -17-43097291-TA-T,17,43097291,rs398122353,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-3del,,c.548-3del,splice_region_variant,Benign/Likely benign,125887,,2,1612774,0.0000012400993567604636,0,0,,,9.75,,0.0500,-0.0300,6.24,,,0,74878,0,0,0,59934,0,0,0,29596,0,0,0,44834,0,0,0,64002,0,0,0,6080,0,0,2,1179202,0,0,0,910,0,0,0,90912,0,0,0,62426,0,0 -17-43097292-A-G,17,43097292,rs397507252,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-3T>C,,c.548-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,37677,,9,984126,0.000009145170435493016,0,0,nfe,0.00000511,12.5,,0.0200,0.00,2.33,,,0,57214,0,0,0,16242,0,0,0,8620,0,0,0,8820,0,0,0,10890,0,0,0,1934,0,0,9,828878,0,0,0,912,0,0,0,21266,0,0,0,29350,0,0 -17-43097296-A-C,17,43097296,rs1283743055,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-7T>G,,c.548-7T>G,splice_region_variant,Likely benign,1155212,,1,628368,0.0000015914241336287016,0,0,,,14.6,,0.0200,-0.0300,0.228,,,0,17672,0,0,0,43698,0,0,0,20976,0,0,0,36010,0,0,0,53126,0,0,0,4146,0,0,1,350022,0,0,,,,,0,69648,0,0,0,33070,0,0 -17-43097297-AT-A,17,43097297,rs273902774,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-9del,,c.548-9del,intron_variant,Conflicting interpretations of pathogenicity,37678,,54,1611856,0.000033501752017549954,0,0,afr,0.0003795400000000001,2.91,,0.00,0.0100,-0.190,,,38,74976,0,0,0,59944,0,0,0,29592,0,0,0,44816,0,0,0,63998,0,0,15,6058,0,0,0,1178258,0,0,0,910,0,0,0,90872,0,0,1,62432,0,0 -17-43097298-T-C,17,43097298,rs80358052,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-9A>G,,c.548-9A>G,intron_variant,Uncertain significance,125892,,7,1459624,0.00000479575561925537,0,0,nfe,0.00000194,22.8,,0.860,0.700,-0.213,,,0,33382,0,0,0,44670,0,0,0,26116,0,0,0,39628,0,0,0,53400,0,0,0,5734,0,0,6,1110314,0,0,,,,,0,86074,0,0,1,60306,0,0 -17-43097299-T-G,17,43097299,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-10A>C,,c.548-10A>C,intron_variant,,,,1,831086,0.0000012032449108756494,0,0,,,3.76,,0.0100,-0.0200,-0.974,,,0,15742,0,0,0,982,0,0,0,5144,0,0,0,3620,0,0,0,274,0,0,0,1618,0,0,1,760038,0,0,,,,,0,16436,0,0,0,27232,0,0 -17-43097300-TC-T,17,43097300,rs1567804289,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-12del,,c.548-12del,intron_variant,Benign,1648680,,1,1459046,6.853793506167728e-7,0,0,,,0.624,,0.0100,0.0100,-1.29,,,0,33384,0,0,0,44654,0,0,0,26114,0,0,0,39624,0,0,0,53390,0,0,0,5756,0,0,0,1109790,0,0,,,,,1,86054,0,0,0,60280,0,0 -17-43097300-T-C,17,43097300,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-11A>G,,c.548-11A>G,intron_variant,Likely benign,2581296,,1,1459046,6.853793506167728e-7,0,0,,,8.50,,0.00,0.00,-1.29,,,0,33384,0,0,0,44654,0,0,0,26114,0,0,1,39624,0,0,0,53390,0,0,0,5756,0,0,0,1109790,0,0,,,,,0,86054,0,0,0,60280,0,0 -17-43097301-C-T,17,43097301,rs80358164,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-12G>A,,c.548-12G>A,intron_variant,Conflicting interpretations of pathogenicity,125883,,1,628158,0.000001591956163895071,0,0,,,1.91,,0.0100,-0.0300,0.746,,,0,17654,0,0,0,43666,0,0,0,20968,0,0,0,36004,0,0,0,53116,0,0,0,4146,0,0,1,349948,0,0,,,,,0,69592,0,0,0,33064,0,0 -17-43097302-C-A,17,43097302,rs80358115,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-13G>T,,c.548-13G>T,intron_variant,Likely benign,125884,,1,1457852,6.859406853370576e-7,0,0,,,0.839,,0.00,-0.0200,0.964,,,0,33366,0,0,1,44644,0,0,0,26100,0,0,0,39626,0,0,0,53392,0,0,0,5760,0,0,0,1108742,0,0,,,,,0,85982,0,0,0,60240,0,0 -17-43097302-C-T,17,43097302,rs80358115,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-13G>A,,c.548-13G>A,intron_variant,,,,2,1457852,0.0000013718813706741151,0,0,,,10.2,,0.490,-0.500,0.964,,,0,33366,0,0,0,44644,0,0,0,26100,0,0,0,39626,0,0,0,53392,0,0,0,5760,0,0,0,1108742,0,0,,,,,1,85982,0,0,1,60240,0,0 -17-43097303-C-T,17,43097303,rs1451322222,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-14G>A,,c.548-14G>A,intron_variant,Likely benign,1644390,,1,829586,0.0000012054205350620672,0,0,,,16.3,,0.480,-0.560,2.45,,,0,15710,0,0,0,976,0,0,0,5136,0,0,0,3618,0,0,0,274,0,0,0,1612,0,0,0,758678,0,0,,,,,1,16408,0,0,0,27174,0,0 -17-43097303-C-A,17,43097303,rs1451322222,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-14G>T,,c.548-14G>T,intron_variant,,,,1,151760,0.000006589351607801792,0,0,,,6.90,,0.00,-0.0100,2.45,,,0,41324,0,0,0,15204,0,0,0,3466,0,0,0,5190,0,0,0,10522,0,0,0,316,0,0,1,67976,0,0,0,910,0,0,0,4766,0,0,0,2086,0,0 -17-43097304-C-T,17,43097304,rs755221482,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-15G>A,,c.548-15G>A,intron_variant,Conflicting interpretations of pathogenicity,245678,,1,1457062,6.863125934243018e-7,0,0,,,19.4,,0.530,0.610,4.90,,,0,33340,0,0,0,44610,0,0,0,26104,0,0,1,39616,0,0,0,53380,0,0,0,5760,0,0,0,1108082,0,0,,,,,0,85970,0,0,0,60200,0,0 -17-43097304-C-A,17,43097304,rs755221482,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-15G>T,,c.548-15G>T,intron_variant,Conflicting interpretations of pathogenicity,560857,,3,1457062,0.0000020589377802729053,0,0,nfe,2.999999999999999e-7,9.65,,0.00,-0.0100,4.90,,,0,33340,0,0,0,44610,0,0,0,26104,0,0,0,39616,0,0,0,53380,0,0,0,5760,0,0,2,1108082,0,0,,,,,1,85970,0,0,0,60200,0,0 -17-43097306-C-A,17,43097306,rs80358014,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-17G>T,,c.548-17G>T,intron_variant,Benign,37675,,464,1606792,0.00028877415371746936,0,0,nfe,0.00031946,6.90,,0.00,0.00,0.121,,,4,74738,0,0,2,59780,0,0,0,29546,0,0,0,44774,0,0,3,63862,0,0,0,6038,0,0,408,1174234,0,0,0,908,0,0,22,90676,0,0,25,62236,0,0 -17-43097306-C-CA,17,43097306,rs398122701,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-18dup,,c.548-18dup,intron_variant,Likely benign,531460,,4,1455034,0.0000027490766538788784,0,0,nfe,2.999999999999999e-7,5.90,,0.00,0.0100,0.121,,,1,33304,0,0,1,44570,0,0,0,26082,0,0,0,39616,0,0,0,53368,0,0,0,5744,0,0,2,1106294,0,0,,,,,0,85922,0,0,0,60134,0,0 -17-43097306-CA-C,17,43097306,rs398122701,CA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-18del,,c.548-18del,intron_variant,Benign,91655,,6,1606668,0.0000037344367349072738,0,0,afr,0.00003482999999999999,0.0850,,0.0300,0.0200,0.121,,,6,74616,0,0,0,59758,0,0,0,29546,0,0,0,44786,0,0,0,63862,0,0,0,6060,0,0,0,1174238,0,0,0,908,0,0,0,90680,0,0,0,62214,0,0 -17-43097307-A-C,17,43097307,rs397507251,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-18T>G,,c.548-18T>G,intron_variant,Likely benign,37676,,32,1605130,0.000019936079943680575,0,0,nfe,0.00001815,0.681,,0.0100,-0.0300,0.0780,,,0,74654,0,0,1,59800,0,0,0,29548,0,0,0,44784,0,0,0,63848,0,0,0,6054,0,0,30,1172696,0,0,0,910,0,0,0,90668,0,0,1,62168,0,0 -17-43097309-AAAAT-A,17,43097309,rs1158608835,AAAAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-24_548-21del,,c.548-24_548-21del,intron_variant,,,,1,151586,0.000006596915282413943,0,0,,,3.70,,0.0600,-0.110,0.505,,,1,41368,0,0,0,15164,0,0,0,3466,0,0,0,5166,0,0,0,10494,0,0,0,316,0,0,0,67906,0,0,0,908,0,0,0,4714,0,0,0,2084,0,0 -17-43097312-A-T,17,43097312,rs747918176,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-23T>A,,c.548-23T>A,intron_variant,,,,9,1589808,0.000005661060958304399,0,0,afr,0.00006287999999999998,4.26,,0.0100,-0.0500,0.135,,,9,74220,0,0,0,59650,0,0,0,29444,0,0,0,44688,0,0,0,63774,0,0,0,6026,0,0,0,1159208,0,0,0,908,0,0,0,90218,0,0,0,61672,0,0 -17-43097313-T-G,17,43097313,rs758221694,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-24A>C,,c.548-24A>C,intron_variant,Likely benign,491177,,8,1438732,0.0000055604518423167064,0,0,eas,0.00010063999999999996,0.369,,0.00,0.00,0.135,,,0,32902,0,0,0,44486,0,0,0,25978,0,0,8,39534,0,0,0,53346,0,0,0,5710,0,0,0,1091588,0,0,,,,,0,85574,0,0,0,59614,0,0 -17-43097315-A-G,17,43097315,rs2054183667,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-26T>C,,c.548-26T>C,intron_variant,,,,1,150908,0.000006626553926895857,0,0,,,12.1,,0.00,0.00,1.54,,,0,41280,0,0,1,15040,0,0,0,3456,0,0,0,5136,0,0,0,10380,0,0,0,312,0,0,0,67726,0,0,0,908,0,0,0,4612,0,0,0,2058,0,0 -17-43097317-T-A,17,43097317,rs2154521910,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-28A>T,,c.548-28A>T,intron_variant,,,,2,1425702,0.0000014028176996314799,0,0,nfe,3.1e-7,11.5,,0.0100,-0.0500,1.56,,,0,32644,0,0,0,44390,0,0,0,25878,0,0,0,39462,0,0,0,53332,0,0,0,5676,0,0,2,1079914,0,0,,,,,0,85242,0,0,0,59164,0,0 -17-43097318-C-T,17,43097318,rs1164265049,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-29G>A,,c.548-29G>A,intron_variant,,,,1,1425426,7.015446610346661e-7,0,0,,,9.05,,0.00,0.00,0.285,,,0,32634,0,0,0,44370,0,0,0,25876,0,0,0,39460,0,0,0,53320,0,0,0,5682,0,0,1,1079710,0,0,,,,,0,85220,0,0,0,59154,0,0 -17-43097318-C-A,17,43097318,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-29G>T,,c.548-29G>T,intron_variant,,,,1,1425426,7.015446610346661e-7,0,0,,,9.28,,0.0200,-0.0500,0.285,,,0,32634,0,0,0,44370,0,0,0,25876,0,0,1,39460,0,0,0,53320,0,0,0,5682,0,0,0,1079710,0,0,,,,,0,85220,0,0,0,59154,0,0 -17-43097319-A-G,17,43097319,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-30T>C,,c.548-30T>C,intron_variant,,,,1,1425094,7.017080978517909e-7,0,0,,,12.6,,0.0500,-0.100,1.24,,,0,32624,0,0,0,44400,0,0,0,25876,0,0,0,39460,0,0,0,53344,0,0,0,5684,0,0,1,1079344,0,0,,,,,0,85228,0,0,0,59134,0,0 -17-43097319-A-T,17,43097319,rs2054183894,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-30T>A,,c.548-30T>A,intron_variant,,,,1,149960,0.000006668444918644972,0,0,,,15.3,,0.310,-0.240,1.24,,,0,41132,0,0,0,14896,0,0,0,3434,0,0,0,5112,0,0,0,10204,0,0,0,310,0,0,1,67426,0,0,0,906,0,0,0,4500,0,0,0,2040,0,0 -17-43097320-A-G,17,43097320,rs1390448549,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-31T>C,,c.548-31T>C,intron_variant,,,,2,1421564,0.00000140690113142989,0,0,,,3.49,,0.00,0.00,0.374,,,0,32550,0,0,1,44432,0,0,0,25852,0,0,0,39442,0,0,0,53326,0,0,1,5672,0,0,0,1076128,0,0,,,,,0,85166,0,0,0,58996,0,0 -17-43097321-T-C,17,43097321,rs1384728821,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-32A>G,,c.548-32A>G,intron_variant,,,,9,1419562,0.000006339983741463916,0,0,eas,0.00002017,13.7,,0.00,-0.0300,2.82,,,0,32480,0,0,0,44372,0,0,0,25846,0,0,3,39432,0,0,0,53334,0,0,0,5660,0,0,0,1074354,0,0,,,,,1,85134,0,0,5,58950,0,0 -17-43097323-A-C,17,43097323,rs1442560766,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-34T>G,,c.548-34T>G,intron_variant,Likely benign,628438,,1,1410228,7.091051943373695e-7,0,0,,,11.0,,0.00,0.00,1.92,,,0,32258,0,0,0,44378,0,0,0,25786,0,0,0,39386,0,0,0,53314,0,0,0,5634,0,0,0,1065900,0,0,,,,,1,84936,0,0,0,58636,0,0 -17-43097323-A-G,17,43097323,rs1442560766,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-34T>C,,c.548-34T>C,intron_variant,Likely benign,433693,,9,1410228,0.000006381946749036326,0,0,nfe,0.0000032300000000000004,11.8,,0.0100,-0.0200,1.92,,,0,32258,0,0,0,44378,0,0,0,25786,0,0,0,39386,0,0,0,53314,0,0,0,5634,0,0,8,1065900,0,0,,,,,0,84936,0,0,1,58636,0,0 -17-43097324-A-G,17,43097324,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-35T>C,,c.548-35T>C,intron_variant,,,,1,1394320,7.171954787997017e-7,0,0,,,5.93,,0.00,0.00,0.0330,,,0,31928,0,0,0,44248,0,0,0,25678,0,0,1,39332,0,0,0,53286,0,0,0,5606,0,0,0,1051568,0,0,,,,,0,84522,0,0,0,58152,0,0 -17-43097326-G-T,17,43097326,rs1332875775,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-37C>A,,c.548-37C>A,intron_variant,,,,10,1395364,0.000007166588789735152,0,0,sas,0.000016040000000000002,0.332,,0.00,-0.0100,-0.217,,,0,31966,0,0,0,44194,0,0,0,25694,0,0,0,39338,0,0,0,53302,0,0,1,5606,0,0,3,1052466,0,0,,,,,4,84576,0,0,2,58222,0,0 -17-43097326-G-A,17,43097326,rs1332875775,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-37C>T,,c.548-37C>T,intron_variant,,,,1,1395366,7.166578517750898e-7,0,0,,,0.413,,0.00,-0.0100,-0.217,,,0,31966,0,0,0,44194,0,0,0,25694,0,0,0,39338,0,0,0,53302,0,0,0,5606,0,0,1,1052468,0,0,,,,,0,84576,0,0,0,58222,0,0 -17-43097327-T-C,17,43097327,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-38A>G,,c.548-38A>G,intron_variant,,,,1,760272,0.0000013153187280341772,0,0,,,0.673,,0.0100,-0.0100,-0.299,,,0,14244,0,0,0,894,0,0,0,4702,0,0,0,3302,0,0,0,244,0,0,0,1476,0,0,1,695422,0,0,,,,,0,15056,0,0,0,24932,0,0 -17-43097330-T-C,17,43097330,rs1377029950,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-41A>G,,c.548-41A>G,intron_variant,Likely benign,1275839,,2,1385130,0.0000014439077920483998,0,0,nfe,3.200000000000001e-7,7.53,,0.0100,0.0100,4.53,,,0,31718,0,0,0,44262,0,0,0,25616,0,0,0,39268,0,0,0,53282,0,0,0,5576,0,0,2,1043242,0,0,,,,,0,84342,0,0,0,57824,0,0 -17-43097335-A-G,17,43097335,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-46T>C,,c.548-46T>C,intron_variant,,,,1,1323936,7.553235201701593e-7,0,0,,,9.44,,0.00,0.00,0.375,,,0,30332,0,0,0,44018,0,0,0,25210,0,0,0,39024,0,0,0,53226,0,0,0,5458,0,0,1,987860,0,0,,,,,0,83160,0,0,0,55648,0,0 -17-43097336-T-C,17,43097336,rs1306426708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-47A>G,,c.548-47A>G,intron_variant,,,,1,625460,0.000001598823266076168,0,0,,,4.18,,0.0100,-0.0400,-0.108,,,0,17376,0,0,0,42924,0,0,0,20886,0,0,1,35982,0,0,0,52956,0,0,0,4064,0,0,0,349374,0,0,,,,,0,68974,0,0,0,32924,0,0 -17-43097337-T-C,17,43097337,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-48A>G,,c.548-48A>G,intron_variant,,,,1,1289750,7.753440589261484e-7,0,0,,,6.33,,0.00,0.00,-0.600,,,0,29574,0,0,0,43822,0,0,0,24942,0,0,0,38858,0,0,0,53182,0,0,0,5384,0,0,1,957172,0,0,,,,,0,82282,0,0,0,54534,0,0 -17-43097342-G-T,17,43097342,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-53C>A,,c.548-53C>A,intron_variant,,,,1,1283898,7.78878072868717e-7,0,0,,,5.60,,0.00,0.00,0.184,,,0,29480,0,0,1,43734,0,0,0,24902,0,0,0,38842,0,0,0,53128,0,0,0,5342,0,0,0,952082,0,0,,,,,0,82074,0,0,0,54314,0,0 -17-43097343-G-C,17,43097343,rs1384309867,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-54C>G,,c.548-54C>G,intron_variant,Likely benign,631205,,7,1409292,0.00000496703309179361,0,0,afr,0.00000481,6.97,,0.00,0.00,-1.19,,,2,69016,0,0,0,57154,0,0,0,27924,0,0,0,43222,0,0,0,61812,0,0,0,5608,0,0,4,1002672,0,0,0,828,0,0,1,85278,0,0,0,55778,0,0 -17-43097343-G-A,17,43097343,rs1384309867,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-54C>T,,c.548-54C>T,intron_variant,Likely benign,628253,,4,1273042,0.0000031420801513225803,0,0,nfe,9.9e-7,7.33,,0.00,0.00,-1.19,,,0,29284,0,0,0,43660,0,0,0,24858,0,0,0,38802,0,0,0,53148,0,0,0,5326,0,0,4,942272,0,0,,,,,0,81776,0,0,0,53916,0,0 -17-43097344-G-C,17,43097344,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-55C>G,,c.548-55C>G,intron_variant,,,,1,1267726,7.888139866185596e-7,0,0,,,3.90,,0.00,0.00,-0.482,,,0,29166,0,0,0,43648,0,0,0,24824,0,0,0,38782,0,0,0,53150,0,0,0,5304,0,0,1,937308,0,0,,,,,0,81822,0,0,0,53722,0,0 -17-43097346-TA-T,17,43097346,rs8176144,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-58del,,c.548-58del,intron_variant,Benign,125889,,436324,1330490,0.32794233703372444,75741,0,sas,0.49248037,12.1,,0.00,0.0100,0.834,,,12219,69180,1137,0,18496,58606,2964,0,9851,27708,1752,0,15367,43524,2772,0,25272,63592,4999,0,1921,5322,378,0,293683,924382,47995,0,260,912,41,0,41860,84316,10749,0,17395,52948,2954,0 -17-43097347-A-T,17,43097347,rs201664159,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-58T>A,,c.548-58T>A,intron_variant,,,,1,75622,0.000013223665071011081,0,0,,,14.7,,0.00,0.00,3.44,,,1,27814,0,0,0,7076,0,0,0,1452,0,0,0,2068,0,0,0,3756,0,0,0,134,0,0,0,30592,0,0,0,472,0,0,0,1304,0,0,0,954,0,0 -17-43097353-A-G,17,43097353,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-64T>C,,c.548-64T>C,intron_variant,,,,1,1023726,9.76823876701383e-7,0,0,,,16.9,,0.00,-0.0100,2.57,,,0,26154,0,0,0,42628,0,0,0,22910,0,0,0,37066,0,0,0,51406,0,0,0,4506,0,0,1,719536,0,0,,,,,0,74176,0,0,0,45344,0,0 -17-43097353-AT-A,17,43097353,rs1567804376,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65del,,c.548-65del,intron_variant,,,,2,1023726,0.000001953647753402766,0,0,nfe,4.6000000000000004e-7,2.34,,0.00,0.0100,2.57,,,0,26154,0,0,0,42628,0,0,0,22910,0,0,0,37066,0,0,0,51406,0,0,0,4506,0,0,2,719536,0,0,,,,,0,74176,0,0,0,45344,0,0 -17-43097354-T-C,17,43097354,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65A>G,,c.548-65A>G,intron_variant,,,,4,1063454,0.000003761328651732938,0,0,sas,0.000017230000000000003,6.28,,0.00,-0.0100,-2.87,,,0,26302,0,0,0,43072,0,0,0,23416,0,0,0,37694,0,0,0,52464,0,0,0,4662,0,0,0,752658,0,0,,,,,4,76338,0,0,0,46848,0,0 -17-43097354-T-G,17,43097354,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65A>C,,c.548-65A>C,intron_variant,,,,1,1063454,9.403321629332345e-7,0,0,,,6.04,,0.00,-0.0100,-2.87,,,1,26302,0,0,0,43072,0,0,0,23416,0,0,0,37694,0,0,0,52464,0,0,0,4662,0,0,0,752658,0,0,,,,,0,76338,0,0,0,46848,0,0 -17-43097355-G-A,17,43097355,rs758892386,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-66C>T,,c.548-66C>T,intron_variant,,,,3,1284088,0.000002336288478671244,0,0,nfe,3.7999999999999996e-7,7.47,,0.00,0.00,-1.66,,,0,68294,0,0,0,58560,0,0,0,27398,0,0,0,43326,0,0,0,63506,0,0,0,5216,0,0,2,882070,0,0,0,912,0,0,1,83484,0,0,0,51322,0,0 -17-43097356-T-A,17,43097356,rs2154522048,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-67A>T,,c.548-67A>T,intron_variant,,,,3,1134368,0.0000026446444187424185,0,0,nfe,9.799999999999997e-7,15.2,,0.00,-0.0100,-0.270,,,0,26900,0,0,0,43330,0,0,0,23976,0,0,0,38168,0,0,0,52958,0,0,0,4902,0,0,3,816050,0,0,,,,,0,78744,0,0,0,49340,0,0 -17-43097359-T-C,17,43097359,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-70A>G,,c.548-70A>G,intron_variant,,,,1,1118970,8.936790083737723e-7,0,0,,,13.2,,0.0200,-0.0400,0.220,,,0,26526,0,0,0,43378,0,0,0,23880,0,0,0,38106,0,0,0,52958,0,0,0,4840,0,0,0,801920,0,0,,,,,0,78538,0,0,1,48824,0,0 -17-43097361-G-T,17,43097361,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-72C>A,,c.548-72C>A,intron_variant,,,,2,454464,0.00000440078862132094,0,0,nfe,8e-7,1.61,,0.00,0.0100,-0.135,,,0,8392,0,0,0,494,0,0,0,2764,0,0,0,1972,0,0,0,134,0,0,0,890,0,0,2,416238,0,0,,,,,0,8822,0,0,0,14758,0,0 -17-43097364-G-A,17,43097364,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-75C>T,,c.548-75C>T,intron_variant,,,,1,1043782,9.580544596477041e-7,0,0,,,6.56,,0.00,0.0100,-0.321,,,0,24948,0,0,0,43230,0,0,0,23414,0,0,0,37744,0,0,0,52824,0,0,0,4596,0,0,1,733516,0,0,,,,,0,77058,0,0,0,46452,0,0 -17-43097364-G-T,17,43097364,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-75C>A,,c.548-75C>A,intron_variant,,,,1,1043782,9.580544596477041e-7,0,0,,,6.60,,0.00,0.0100,-0.321,,,0,24948,0,0,0,43230,0,0,0,23414,0,0,0,37744,0,0,0,52824,0,0,0,4596,0,0,1,733516,0,0,,,,,0,77058,0,0,0,46452,0,0 -17-43099700-A-C,17,43099700,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+75T>G,,c.547+75T>G,intron_variant,,,,1,617162,0.0000016203201104410188,0,0,,,5.76,,0.00,0.00,1.34,,,0,17208,0,0,0,42906,0,0,0,20586,0,0,0,35760,0,0,0,51914,0,0,0,3042,0,0,1,344792,0,0,,,,,0,68658,0,0,0,32296,0,0 -17-43099707-T-G,17,43099707,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+68A>C,,c.547+68A>C,intron_variant,,,,1,1207820,8.279379377721846e-7,0,0,,,7.88,,0.00,0.00,-0.586,,,0,27892,0,0,0,43468,0,0,0,24292,0,0,0,38290,0,0,0,52404,0,0,0,4336,0,0,0,885312,0,0,,,,,1,80138,0,0,0,51688,0,0 -17-43099707-T-C,17,43099707,rs760491174,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+68A>G,,c.547+68A>G,intron_variant,,,,148,1360042,0.00010882016878890504,0,0,nfe,0.00012738,8.20,,0.00,0.00,-0.586,,,0,69354,0,0,3,58730,0,0,0,27762,0,0,0,43498,0,0,0,63024,0,0,0,4652,0,0,141,953358,0,0,0,912,0,0,1,84970,0,0,3,53782,0,0 -17-43099708-T-C,17,43099708,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+67A>G,,c.547+67A>G,intron_variant,,,,1,594894,0.0000016809717361412286,0,0,,,3.16,,0.00,0.00,-0.116,,,0,10766,0,0,0,670,0,0,0,3736,0,0,0,2520,0,0,0,192,0,0,0,1162,0,0,1,544718,0,0,,,,,0,11666,0,0,0,19464,0,0 -17-43099710-G-T,17,43099710,rs2154527583,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+65C>A,,c.547+65C>A,intron_variant,,,,1,1238416,8.074831074533921e-7,0,0,,,1.23,,0.00,0.0100,0.805,,,0,28476,0,0,0,43448,0,0,0,24472,0,0,0,38412,0,0,0,52420,0,0,0,4444,0,0,1,913252,0,0,,,,,0,80772,0,0,0,52720,0,0 -17-43099711-CA-C,17,43099711,rs2154527591,CA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+63del,,c.547+63del,intron_variant,,,,3,1438742,0.0000020851549478641757,0,0,eas,0.00001815,4.05,,0.00,0.0100,1.02,,,0,71028,0,0,0,58810,0,0,0,28226,0,0,3,43846,0,0,0,63086,0,0,0,4846,0,0,0,1024958,0,0,0,910,0,0,0,86540,0,0,0,56492,0,0 -17-43099711-C-G,17,43099711,rs144033340,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+64G>C,,c.547+64G>C,intron_variant,Likely benign,1325673,,298,1438742,0.00020712539148784147,0,0,afr,0.0033616600000000007,5.77,,0.00,0.00,1.02,,,265,71028,0,0,8,58810,0,0,0,28226,0,0,0,43846,0,0,0,63086,0,0,1,4846,0,0,3,1024958,0,0,0,910,0,0,0,86540,0,0,21,56492,0,0 -17-43099711-C-T,17,43099711,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+64G>A,,c.547+64G>A,intron_variant,,,,1,1286540,7.772785921930138e-7,0,0,,,6.23,,0.00,0.00,1.02,,,0,29496,0,0,1,43536,0,0,0,24758,0,0,0,38658,0,0,0,52488,0,0,0,4552,0,0,0,956948,0,0,,,,,0,81720,0,0,0,54384,0,0 -17-43099715-A-G,17,43099715,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+60T>C,,c.547+60T>C,intron_variant,,,,1,1302818,7.675669203219483e-7,0,0,,,7.92,,0.00,0.00,0.972,,,0,29834,0,0,0,43834,0,0,0,24942,0,0,0,38776,0,0,0,52742,0,0,0,4748,0,0,1,970754,0,0,,,,,0,82228,0,0,0,54960,0,0 -17-43099716-CTA-C,17,43099716,,CTA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+57_547+58del,,c.547+57_547+58del,intron_variant,,,,2,773242,0.000002586512372581934,0,0,,,0.235,,0.00,0.0100,0.0100,,,1,58838,0,0,0,58426,0,0,0,24170,0,0,0,41078,0,0,0,63108,0,0,0,3776,0,0,0,414538,0,0,0,912,0,0,0,73716,0,0,1,34680,0,0 -17-43099717-T-C,17,43099717,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+58A>G,,c.547+58A>G,intron_variant,,,,1,621618,0.0000016087050246292739,0,0,,,1.30,,0.00,-0.0100,-0.492,,,0,17412,0,0,0,43178,0,0,0,20726,0,0,0,35884,0,0,0,52572,0,0,0,3506,0,0,0,346810,0,0,,,,,1,68918,0,0,0,32612,0,0 -17-43099718-A-G,17,43099718,rs1567805839,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+57T>C,,c.547+57T>C,intron_variant,,,,6,621826,0.000009649001489162563,0,0,nfe,0.0000072199999999999995,0.0400,,0.00,0.0100,-4.57,,,0,17402,0,0,0,43160,0,0,0,20738,0,0,0,35898,0,0,0,52596,0,0,0,3556,0,0,6,346902,0,0,,,,,0,68942,0,0,0,32632,0,0 -17-43099719-T-C,17,43099719,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+56A>G,,c.547+56A>G,intron_variant,,,,1,1313862,7.611149420563194e-7,0,0,,,4.07,,0.00,0.00,0.950,,,0,30126,0,0,0,43960,0,0,0,25062,0,0,0,38852,0,0,0,52826,0,0,0,4908,0,0,0,980226,0,0,,,,,1,82560,0,0,0,55342,0,0 -17-43099721-A-C,17,43099721,rs1233312587,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+54T>G,,c.547+54T>G,intron_variant,,,,1,623046,0.0000016050179280502563,0,0,,,8.16,,0.00,0.00,0.269,,,0,17450,0,0,0,43326,0,0,0,20788,0,0,0,35928,0,0,0,52688,0,0,0,3648,0,0,1,347430,0,0,,,,,0,69090,0,0,0,32698,0,0 -17-43099725-A-T,17,43099725,rs2154527649,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+50T>A,,c.547+50T>A,intron_variant,,,,1,624304,0.0000016017837463799688,0,0,,,5.14,,0.00,0.00,0.390,,,0,17504,0,0,0,43494,0,0,0,20834,0,0,0,35956,0,0,0,52772,0,0,0,3760,0,0,0,347948,0,0,,,,,1,69274,0,0,0,32762,0,0 -17-43099727-G-A,17,43099727,rs1323474725,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+48C>T,,c.547+48C>T,intron_variant,,,,5,1486708,0.0000033631351953443446,0,0,nfe,0.0000013700000000000002,2.74,,0.00,0.00,0.535,,,0,72070,0,0,0,59576,0,0,0,28728,0,0,0,44156,0,0,0,63570,0,0,0,5454,0,0,5,1066022,0,0,0,910,0,0,0,88082,0,0,0,58140,0,0 -17-43099729-A-G,17,43099729,rs770910897,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+46T>C,,c.547+46T>C,intron_variant,,,,5,710526,0.000007037040164610443,0,0,nfe,0.0000022500000000000005,8.22,,0.00,0.00,1.46,,,0,13162,0,0,0,830,0,0,0,4420,0,0,0,3044,0,0,0,234,0,0,0,1362,0,0,5,650212,0,0,,,,,0,13970,0,0,0,23292,0,0 -17-43099730-A-G,17,43099730,rs777639827,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+45T>C,,c.547+45T>C,intron_variant,,,,2,625320,0.000003198362438431523,0,0,sas,0.00000478,3.51,,0.00,0.00,0.209,,,0,17572,0,0,0,43582,0,0,0,20866,0,0,0,35968,0,0,0,52844,0,0,0,3858,0,0,0,348368,0,0,,,,,2,69422,0,0,0,32840,0,0 -17-43099732-C-T,17,43099732,rs746927911,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+43G>A,,c.547+43G>A,intron_variant,Likely benign,1325674,,25,1497044,0.000016699575964367112,0,0,nfe,0.00001046,1.59,,0.00,0.00,0.0460,,,0,72300,0,0,0,59700,0,0,5,28820,0,0,0,44218,0,0,0,63660,0,0,0,5590,0,0,18,1074910,0,0,0,910,0,0,0,88414,0,0,2,58522,0,0 -17-43099732-C-A,17,43099732,rs746927911,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+43G>T,,c.547+43G>T,intron_variant,,,,1,1344930,7.435331206828608e-7,0,0,,,1.20,,0.00,0.0100,0.0460,,,0,30872,0,0,0,44436,0,0,0,25352,0,0,0,39024,0,0,0,53068,0,0,0,5274,0,0,0,1006888,0,0,,,,,1,83582,0,0,0,56434,0,0 -17-43099733-CAG-C,17,43099733,rs757892853,CAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+40_547+41del,,c.547+40_547+41del,intron_variant,,,,34,1499114,0.00002268006302389278,0,0,nfe,3.1e-7,5.94,,0.00,0.0100,-0.822,,,0,72350,0,0,0,59702,0,0,0,28814,0,0,0,44238,0,0,30,63664,0,0,0,5612,0,0,2,1076770,0,0,0,912,0,0,0,88470,0,0,2,58582,0,0 -17-43099733-C-T,17,43099733,rs1273859752,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+42G>A,,c.547+42G>A,intron_variant,Likely benign,1325676,,43,1499114,0.000028683609118452634,0,0,sas,0.00022484,3.27,,0.00,0.00,-0.822,,,0,72350,0,0,0,59702,0,0,0,28814,0,0,0,44238,0,0,0,63664,0,0,3,5612,0,0,11,1076770,0,0,0,912,0,0,28,88470,0,0,1,58582,0,0 -17-43099734-A-G,17,43099734,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+41T>C,,c.547+41T>C,intron_variant,,,,1,625904,0.0000015976891024821697,0,0,,,9.36,,0.00,0.00,1.65,,,0,17598,0,0,0,43614,0,0,0,20882,0,0,0,35986,0,0,0,52852,0,0,0,3932,0,0,1,348628,0,0,,,,,0,69522,0,0,0,32890,0,0 -17-43099738-A-G,17,43099738,rs770897278,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+37T>C,,c.547+37T>C,intron_variant,,,,5,1361844,0.0000036714924763776176,0,0,sas,0.000023390000000000005,9.47,,0.00,-0.0100,0.580,,,0,31260,0,0,0,44486,0,0,0,25464,0,0,0,39154,0,0,0,53200,0,0,0,5418,0,0,0,1021804,0,0,,,,,5,84026,0,0,0,57032,0,0 -17-43099739-T-C,17,43099739,rs776203826,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+36A>G,,c.547+36A>G,intron_variant,,,,6,626518,0.00000957674001385435,0,0,sas,0.00003689999999999998,4.75,,0.00,-0.0100,0.0500,,,0,17618,0,0,0,43628,0,0,0,20892,0,0,0,35996,0,0,0,52950,0,0,0,4016,0,0,0,348872,0,0,,,,,6,69618,0,0,0,32928,0,0 -17-43099742-T-C,17,43099742,rs2054286469,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+33A>G,,c.547+33A>G,intron_variant,,,,1,626872,0.0000015952219910922805,0,0,,,7.72,,0.00,-0.0100,0.553,,,0,17634,0,0,0,43664,0,0,0,20912,0,0,0,36006,0,0,0,52976,0,0,0,4062,0,0,1,349024,0,0,,,,,0,69642,0,0,0,32952,0,0 -17-43099745-T-C,17,43099745,rs191034650,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+30A>G,,c.547+30A>G,intron_variant,,,,31,1530176,0.000020259107449077752,0,0,eas,0.00044684000000000027,2.20,,0.00,-0.0100,-1.26,,,0,73174,0,0,0,59824,0,0,0,29084,0,0,28,44452,0,0,0,63854,0,0,0,5830,0,0,2,1104130,0,0,0,912,0,0,1,89236,0,0,0,59680,0,0 -17-43099746-T-C,17,43099746,rs2054286686,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+29A>G,,c.547+29A>G,intron_variant,,,,1,627170,0.000001594464020919368,0,0,,,10.8,,0.00,0.00,1.67,,,0,17654,0,0,0,43678,0,0,0,20916,0,0,0,36014,0,0,0,53002,0,0,0,4102,0,0,0,349134,0,0,,,,,1,69702,0,0,0,32968,0,0 -17-43099747-A-G,17,43099747,rs2054286782,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+28T>C,,c.547+28T>C,intron_variant,,,,2,152206,0.000013140086461768918,0,0,afr,0.00000454,4.74,,0.00,-0.0100,0.609,,,2,41456,0,0,0,15278,0,0,0,3472,0,0,0,5204,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 -17-43099747-A-C,17,43099747,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+28T>G,,c.547+28T>G,intron_variant,,,,1,1382236,7.234654574182702e-7,0,0,,,4.57,,0.00,-0.0100,0.609,,,0,31700,0,0,0,44548,0,0,0,25634,0,0,0,39270,0,0,0,53256,0,0,0,5556,0,0,1,1040090,0,0,,,,,0,84490,0,0,0,57692,0,0 -17-43099751-A-T,17,43099751,rs80358130,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+24T>A,,c.547+24T>A,intron_variant,,,,1,769176,0.0000013000925665907413,0,0,,,9.95,,0.00,-0.0100,1.74,,,0,14352,0,0,0,882,0,0,0,4788,0,0,0,3316,0,0,0,260,0,0,0,1480,0,0,1,703794,0,0,,,,,0,15064,0,0,0,25240,0,0 -17-43099751-A-G,17,43099751,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+24T>C,,c.547+24T>C,intron_variant,,,,1,769176,0.0000013000925665907413,0,0,,,10.4,,0.00,-0.0100,1.74,,,0,14352,0,0,0,882,0,0,0,4788,0,0,0,3316,0,0,0,260,0,0,0,1480,0,0,1,703794,0,0,,,,,0,15064,0,0,0,25240,0,0 -17-43099752-C-T,17,43099752,rs1458290475,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+23G>A,,c.547+23G>A,intron_variant,,,,1,627468,0.0000015937067707038447,0,0,,,0.618,,0.00,0.00,-0.334,,,0,17668,0,0,0,43704,0,0,0,20932,0,0,1,36010,0,0,0,53014,0,0,0,4116,0,0,0,349312,0,0,,,,,0,69724,0,0,0,32988,0,0 -17-43099753-T-C,17,43099753,rs535382993,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+22A>G,,c.547+22A>G,intron_variant,,,,1,152348,0.000006563919447580539,0,0,,,6.49,,0.0100,-0.0400,0.689,,,1,41586,0,0,0,15302,0,0,0,3468,0,0,0,5194,0,0,0,10618,0,0,0,294,0,0,0,68028,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 -17-43099754-TAAA-T,17,43099754,rs1223085865,TAAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+18_547+20del,,c.547+18_547+20del,intron_variant,,,,1,1414684,7.068716405925281e-7,0,0,,,4.13,,0.0100,-0.0200,0.927,,,0,32410,0,0,0,44618,0,0,0,25804,0,0,0,39436,0,0,0,53288,0,0,0,5654,0,0,0,1069448,0,0,,,,,1,85198,0,0,0,58828,0,0 -17-43099754-T-TA,17,43099754,rs1223085865,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+20dup,,c.547+20dup,intron_variant,,,,2,1414684,0.0000014137432811850563,0,0,sas,0.0000039,6.04,,0.00,0.0100,0.927,,,0,32410,0,0,0,44618,0,0,0,25804,0,0,0,39436,0,0,0,53288,0,0,0,5654,0,0,0,1069448,0,0,,,,,2,85198,0,0,0,58828,0,0 -17-43099755-A-T,17,43099755,rs2054287186,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+20T>A,,c.547+20T>A,intron_variant,,,,1,152204,0.000006570129562954982,0,0,,,6.50,,0.0100,-0.0100,0.565,,,1,41454,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43099756-A-G,17,43099756,rs1248443594,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+19T>C,,c.547+19T>C,intron_variant,,,,1,152204,0.000006570129562954982,0,0,,,0.0880,,0.00,0.00,-1.16,,,1,41460,0,0,0,15270,0,0,0,3468,0,0,0,5208,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43099759-A-C,17,43099759,rs1597887463,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+16T>G,,c.547+16T>G,intron_variant,Likely benign,766705,,1,152184,0.000006570993008463439,0,0,,,10.8,,0.00,-0.0100,2.85,,,1,41438,0,0,0,15268,0,0,0,3468,0,0,0,5204,0,0,0,10616,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43099760-AC-A,17,43099760,rs273902771,AC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+14del,,c.547+14del,intron_variant,Conflicting interpretations of pathogenicity,125880,,89,1579848,0.000056334533448787476,0,0,eas,0.00069476,0.206,,0.00,0.0100,-0.115,,,0,74220,0,0,0,59936,0,0,0,29378,0,0,41,44694,0,0,0,63954,0,0,0,5972,0,0,41,1149104,0,0,0,912,0,0,2,90292,0,0,5,61386,0,0 -17-43099761-C-G,17,43099761,rs932782447,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+14G>C,,c.547+14G>C,intron_variant,,,,1,627748,0.0000015929959155584725,0,0,,,0.500,,0.00,0.00,-0.0770,,,0,17674,0,0,0,43730,0,0,0,20944,0,0,0,35966,0,0,0,53074,0,0,0,4130,0,0,0,349446,0,0,,,,,1,69766,0,0,0,33018,0,0 -17-43099764-G-T,17,43099764,rs2054288146,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+11C>A,,c.547+11C>A,intron_variant,Likely benign,925029,,1,1435246,6.967446695549056e-7,0,0,,,6.55,,0.00,0.00,-0.146,,,0,32852,0,0,0,44674,0,0,0,25958,0,0,0,39554,0,0,0,53354,0,0,0,5708,0,0,0,1088012,0,0,,,,,0,85614,0,0,1,59520,0,0 -17-43099766-G-T,17,43099766,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+9C>A,,c.547+9C>A,intron_variant,,,,1,1437222,6.957867330168895e-7,0,0,,,8.08,,0.00,-0.0200,1.58,,,0,32880,0,0,0,44672,0,0,0,25966,0,0,0,39556,0,0,0,53362,0,0,0,5712,0,0,0,1089776,0,0,,,,,1,85692,0,0,0,59606,0,0 -17-43099767-A-C,17,43099767,rs762224894,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+8T>G,,c.547+8T>G,splice_region_variant,Benign/Likely benign,438941,,5,1590424,0.0000031438157371870648,0,0,afr,0.00001756,1.05,,0.00,-0.0100,-0.535,,,4,74316,0,0,0,59948,0,0,0,29436,0,0,0,44762,0,0,0,63986,0,0,0,6034,0,0,0,1158750,0,0,0,910,0,0,0,90564,0,0,1,61718,0,0 -17-43099768-C-T,17,43099768,rs772583635,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+7G>A,,c.547+7G>A,splice_region_variant,Likely benign,531461,,1,1441874,6.935418767520602e-7,0,0,,,0.0370,,0.00,0.00,-0.681,,,0,33014,0,0,0,44680,0,0,0,25982,0,0,0,39588,0,0,0,53362,0,0,0,5728,0,0,1,1093950,0,0,,,,,0,85810,0,0,0,59760,0,0 -17-43099768-C-G,17,43099768,rs772583635,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+7G>C,,c.547+7G>C,splice_region_variant,Likely benign,415567,,1,1441874,6.935418767520602e-7,0,0,,,0.0290,,0.00,0.00,-0.681,,,0,33014,0,0,0,44680,0,0,0,25982,0,0,0,39588,0,0,0,53362,0,0,0,5728,0,0,0,1093950,0,0,,,,,1,85810,0,0,0,59760,0,0 -17-43099769-C-T,17,43099769,rs1400635407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+6G>A,,c.547+6G>A,intron_variant,Uncertain significance,924228,,1,628222,0.0000015917939836554593,0,0,,,1.81,,0.00,0.00,0.103,,,0,17680,0,0,0,43732,0,0,0,20962,0,0,1,36044,0,0,0,53094,0,0,0,4146,0,0,0,349744,0,0,,,,,0,69770,0,0,0,33050,0,0 -17-43099772-T-C,17,43099772,rs886040919,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+3A>G,,c.547+3A>G,intron_variant,,,,1,818362,0.0000012219531209904662,0,0,,,15.2,,0.100,-0.180,2.34,,,1,15422,0,0,0,960,0,0,0,5064,0,0,0,3568,0,0,0,268,0,0,0,1590,0,0,0,748514,0,0,,,,,0,16132,0,0,0,26844,0,0 -17-43099774-C-A,17,43099774,rs80358030,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+1G>T,,c.547+1G>T,splice_donor_variant,Pathogenic,55590,,2,820472,0.000002437621271658265,0,0,nfe,4.4e-7,33.0,,0.990,-0.880,8.90,,,0,15468,0,0,0,962,0,0,0,5078,0,0,0,3566,0,0,0,270,0,0,0,1592,0,0,2,750484,0,0,,,,,0,16166,0,0,0,26886,0,0 -17-43099776-C-T,17,43099776,rs1464752950,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu182Leu,p.Leu182Leu,c.546G>A,splice_region_variant,Likely benign,825760,,1,1450342,6.894925472750565e-7,0,0,,,12.4,,0.00,0.0100,2.25,,,0,33186,0,0,0,44688,0,0,0,26056,0,0,0,39642,0,0,0,53394,0,0,0,5736,0,0,1,1101674,0,0,,,,,0,85966,0,0,0,60000,0,0 -17-43099778-A-G,17,43099778,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu182Leu,p.Leu182Leu,c.544T>C,synonymous_variant,,,,1,823542,0.0000012142671533449418,0,0,,,2.34,,0.00,0.0100,-0.465,,,0,15544,0,0,0,966,0,0,0,5096,0,0,0,3592,0,0,0,270,0,0,0,1596,0,0,1,753268,0,0,,,,,0,16244,0,0,0,26966,0,0 -17-43099779-T-C,17,43099779,rs397507250,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu181Glu,p.Glu181Glu,c.543A>G,synonymous_variant,Likely benign,37671,,9,1604408,0.000005609545701592114,0,0,nfe,0.00000362,7.37,,0.0200,-0.0400,0.0350,,,0,74686,0,0,0,59980,0,0,0,29532,0,0,0,44858,0,0,0,63992,0,0,0,6060,0,0,9,1171376,0,0,0,912,0,0,0,90856,0,0,0,62156,0,0 -17-43099782-A-G,17,43099782,rs2154528027,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Ile,p.Ile180Ile,c.540T>C,synonymous_variant,Likely benign,1655387,,1,825382,0.0000012115602230240058,0,0,,,9.50,,0.00,0.00,2.28,,,0,15588,0,0,0,970,0,0,0,5108,0,0,0,3610,0,0,0,272,0,0,0,1604,0,0,1,754900,0,0,,,,,0,16282,0,0,0,27048,0,0 -17-43099783-A-G,17,43099783,rs1567805965,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Thr,p.Ile180Thr,c.539T>C,missense_variant,Uncertain significance,627936,,1,825800,0.000001210946960523129,0,0,,,24.4,0.675,0.00,0.00,4.72,0.00,0.468,0,15584,0,0,0,972,0,0,0,5108,0,0,0,3612,0,0,0,272,0,0,0,1600,0,0,1,755294,0,0,,,,,0,16288,0,0,0,27070,0,0 -17-43099784-T-G,17,43099784,rs1555594803,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Leu,p.Ile180Leu,c.538A>C,missense_variant,Uncertain significance,482943,,1,628394,0.0000015913582879530996,0,0,,,23.8,0.596,0.00,-0.0200,4.74,0.00,0.155,0,17684,0,0,0,43730,0,0,0,20966,0,0,0,36052,0,0,0,53124,0,0,0,4146,0,0,1,349824,0,0,,,,,0,69790,0,0,0,33078,0,0 -17-43099786-T-C,17,43099786,rs56187033,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr179Cys,p.Tyr179Cys,c.536A>G,missense_variant,Benign,37661,,542,1608112,0.00033704120111037044,8,0,amr,0.0002889300000000001,24.8,0.754,0.00,-0.0300,2.35,0.00,0.846,5,74878,0,0,25,60000,0,0,0,29562,0,0,1,44858,0,0,1,64030,0,0,112,6048,6,0,322,1174564,0,0,0,912,0,0,29,90962,2,0,47,62298,0,0 -17-43099787-A-G,17,43099787,rs587781761,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr179His,p.Tyr179His,c.535T>C,missense_variant,Uncertain significance,141458,,12,1608308,0.000007461257420842276,0,0,nfe,0.00000545,24.9,0.657,0.00,-0.0200,4.72,0.00,0.804,0,74740,0,0,0,59990,0,0,0,29562,0,0,0,44870,0,0,0,64024,0,0,0,6072,0,0,12,1174894,0,0,0,912,0,0,0,90970,0,0,0,62274,0,0 -17-43099789-A-T,17,43099789,rs876660085,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val178Asp,p.Val178Asp,c.533T>A,missense_variant,Uncertain significance,232937,,1,1456860,6.864077536619853e-7,0,0,,,25.0,0.757,0.00,0.0200,6.33,0.00,0.196,0,33336,0,0,0,44714,0,0,0,26100,0,0,0,39668,0,0,0,53402,0,0,0,5756,0,0,0,1107506,0,0,,,,,0,86158,0,0,1,60220,0,0 -17-43099790-C-G,17,43099790,rs1259369962,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val178Leu,p.Val178Leu,c.532G>C,missense_variant,Uncertain significance,479255,,2,980910,0.0000020389230408498233,0,0,,,22.5,0.612,0.00,-0.0100,4.28,0.0100,0.0340,0,57082,0,0,0,16248,0,0,0,8604,0,0,1,8824,0,0,0,10872,0,0,0,1926,0,0,0,825984,0,0,0,912,0,0,0,21204,0,0,1,29254,0,0 -17-43099792-G-C,17,43099792,rs753940026,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser177Cys,p.Ser177Cys,c.530C>G,missense_variant,Uncertain significance,187240,,2,780614,0.000002562085742761467,0,0,,,24.4,0.663,0.0100,-0.0200,4.94,0.0100,0.894,0,59124,0,0,0,59010,0,0,0,24438,0,0,1,41256,0,0,0,63740,0,0,0,4462,0,0,1,417892,0,0,0,910,0,0,0,74610,0,0,0,35172,0,0 -17-43099794-C-T,17,43099794,rs34545365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr176Thr,p.Thr176Thr,c.528G>A,synonymous_variant,Likely benign,136538,,85,1610252,0.000052786768779048247,0,0,afr,0.0003452200000000002,5.72,,0.0100,-0.0200,0.0530,,,35,74894,0,0,18,59988,0,0,0,29578,0,0,0,44868,0,0,0,64002,0,0,0,6056,0,0,30,1176580,0,0,0,912,0,0,1,90992,0,0,1,62382,0,0 -17-43099795-G-A,17,43099795,rs587782747,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr176Met,p.Thr176Met,c.527C>T,missense_variant,Uncertain significance,409326,,4,1458456,0.0000027426264487924214,0,0,sas,0.00000385,22.8,0.542,0.0100,-0.0300,1.85,0.00,0.0820,0,33378,0,0,1,44712,0,0,0,26110,0,0,0,39672,0,0,0,53396,0,0,0,5762,0,0,1,1108954,0,0,,,,,2,86184,0,0,0,60288,0,0 -17-43099799-T-G,17,43099799,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys175Gln,p.Lys175Gln,c.523A>C,missense_variant,,,,1,831262,0.000001202990152322613,0,0,,,21.2,0.508,0.00,0.00,2.90,0.0100,0.00100,0,15726,0,0,0,982,0,0,0,5150,0,0,0,3620,0,0,0,274,0,0,0,1616,0,0,1,760226,0,0,,,,,0,16420,0,0,0,27248,0,0 -17-43099800-T-C,17,43099800,rs765432756,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln174Gln,p.Gln174Gln,c.522A>G,synonymous_variant,Likely benign,184034,,25,1612114,0.000015507588173044834,0,0,nfe,0.00001456,1.57,,0.00,0.0100,-1.48,,,0,74870,0,0,0,59992,0,0,0,29588,0,0,0,44888,0,0,0,64020,0,0,0,6078,0,0,25,1178300,0,0,0,912,0,0,0,91046,0,0,0,62420,0,0 -17-43099801-TG-T,17,43099801,rs80357639,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln174LysfsTer60,p.Gln174LysfsTer60,c.520del,frameshift_variant,Pathogenic,55460,,2,1459364,0.0000013704600086064888,0,0,nfe,2.999999999999999e-7,24.9,,0.00,-0.0400,0.211,,,0,33418,0,0,0,44718,0,0,0,26112,0,0,0,39664,0,0,0,53382,0,0,0,5758,0,0,2,1109782,0,0,,,,,0,86214,0,0,0,60316,0,0 -17-43099803-A-T,17,43099803,rs876659179,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173Pro,p.Pro173Pro,c.519T>A,synonymous_variant,Likely benign,231469,,2,1460324,0.0000013695590841484493,0,0,sas,0.00000385,8.35,,0.00,-0.0100,1.30,,,0,33426,0,0,0,44716,0,0,0,26120,0,0,0,39686,0,0,0,53408,0,0,0,5766,0,0,0,1110636,0,0,,,,,2,86226,0,0,0,60340,0,0 -17-43099804-G-C,17,43099804,rs2054293926,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173Arg,p.Pro173Arg,c.518C>G,missense_variant,,,,1,831910,0.0000012020531067062542,0,0,,,23.4,0.545,0.00,0.0100,3.82,0.0100,0.105,0,15744,0,0,0,982,0,0,0,5146,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,760818,0,0,,,,,1,16436,0,0,0,27262,0,0 -17-43099805-GT-G,17,43099805,rs879254223,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172HisfsTer62,p.Gln172HisfsTer62,c.516del,frameshift_variant,Pathogenic,246360,,1,1460756,6.845770272379508e-7,0,0,,,6.48,,0.00,-0.0300,0.878,,,0,33448,0,0,0,44718,0,0,0,26126,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111024,0,0,,,,,1,86234,0,0,0,60350,0,0 -17-43099805-G-GTTGT,17,43099805,,G,GTTGT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173ThrfsTer10,p.Pro173ThrfsTer10,c.513_516dup,frameshift_variant,,,,1,1460756,6.845770272379508e-7,0,0,,,19.7,,0.0100,-0.0900,0.878,,,0,33448,0,0,0,44718,0,0,0,26126,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,1,1111024,0,0,,,,,0,86234,0,0,0,60350,0,0 -17-43099806-T-C,17,43099806,rs752940034,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Gln,p.Gln172Gln,c.516A>G,synonymous_variant,Likely benign,427332,,2,628548,0.0000031819367812800294,0,0,eas,0.00000919,0.675,,0.00,0.00,-1.45,,,0,17684,0,0,0,43736,0,0,0,20974,0,0,2,36056,0,0,0,53134,0,0,0,4148,0,0,0,349936,0,0,,,,,0,69796,0,0,0,33084,0,0 -17-43099807-T-C,17,43099807,rs1555594863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Arg,p.Gln172Arg,c.515A>G,missense_variant,Uncertain significance,482899,,3,1461062,0.0000020533009550587177,0,0,nfe,2.999999999999999e-7,12.6,0.573,0.00,0.0100,1.33,0.540,0.806,0,33450,0,0,0,44718,0,0,0,26126,0,0,0,39684,0,0,0,53410,0,0,0,5766,0,0,2,1111298,0,0,,,,,0,86244,0,0,1,60366,0,0 -17-43099807-TG-T,17,43099807,rs80357872,TG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln172AsnfsTer62,p.Gln172AsnfsTer62,c.514del,frameshift_variant,Pathogenic,55421,,3,1613276,0.0000018595702161316477,0,0,,,22.1,,0.00,-0.0400,1.33,,,0,74906,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,64034,0,0,0,6082,0,0,2,1179328,0,0,0,912,0,0,0,91076,0,0,1,62458,0,0 -17-43099808-G-A,17,43099808,rs80356947,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Ter,p.Gln172Ter,c.514C>T,stop_gained,Pathogenic,55420,,1,1460986,6.84469255694442e-7,0,0,,,33.0,,0.0300,-0.190,2.79,,,0,33452,0,0,0,44718,0,0,0,26124,0,0,0,39684,0,0,0,53404,0,0,0,5766,0,0,1,1111224,0,0,,,,,0,86248,0,0,0,60366,0,0 -17-43099809-T-C,17,43099809,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Met,p.Ile171Met,c.513A>G,missense_variant,,,,2,1461158,0.0000013687773669924814,0,0,nfe,2.999999999999999e-7,3.29,0.652,0.00,0.00,-0.767,0.0900,0.453,0,33454,0,0,0,44720,0,0,0,26126,0,0,0,39688,0,0,0,53406,0,0,0,5766,0,0,2,1111378,0,0,,,,,0,86246,0,0,0,60374,0,0 -17-43099811-T-C,17,43099811,rs777515082,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Val,p.Ile171Val,c.511A>G,missense_variant,Likely benign,431182,,1,1461278,6.843324815675046e-7,0,0,,,0.600,0.547,0.0200,-0.0400,0.117,1.00,0.0240,0,33462,0,0,0,44718,0,0,0,26126,0,0,0,39688,0,0,0,53410,0,0,0,5764,0,0,0,1111484,0,0,,,,,1,86250,0,0,0,60376,0,0 -17-43099811-T-G,17,43099811,rs777515082,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Leu,p.Ile171Leu,c.511A>C,missense_variant,Uncertain significance,2094438,,2,1461278,0.0000013686649631350092,0,0,,,3.79,0.475,0.00,-0.0100,0.117,0.310,0.0240,0,33462,0,0,0,44718,0,0,0,26126,0,0,0,39688,0,0,0,53410,0,0,0,5764,0,0,1,1111484,0,0,,,,,0,86250,0,0,1,60376,0,0 -17-43099813-C-T,17,43099813,rs80357264,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg170Gln,p.Arg170Gln,c.509G>A,missense_variant,Conflicting interpretations of pathogenicity,55400,,25,1613504,0.000015494228709690215,0,0,nfe,0.0000103,2.98,0.484,0.0200,-0.0500,0.762,1.00,0.00,2,74884,0,0,0,59984,0,0,0,29598,0,0,0,44896,0,0,1,64010,0,0,1,6082,0,0,19,1179594,0,0,0,912,0,0,1,91072,0,0,1,62472,0,0 -17-43099814-G-T,17,43099814,rs80357325,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg170Arg,p.Arg170Arg,c.508C>A,synonymous_variant,Likely benign,825426,,1,1461236,6.84352151192552e-7,0,0,,,6.24,,0.0200,-0.0400,2.85,,,0,33458,0,0,0,44718,0,0,0,26124,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,0,1111462,0,0,,,,,1,86244,0,0,0,60374,0,0 -17-43099814-G-A,17,43099814,rs80357325,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg170Trp,p.Arg170Trp,c.508C>T,missense_variant,Benign,55393,,18,1461236,0.000012318338721465936,0,0,nfe,0.00000653,18.8,0.482,0.0300,-0.0600,2.85,0.0300,0.00,1,33458,0,0,1,44718,0,0,0,26124,0,0,0,39686,0,0,3,53406,0,0,0,5764,0,0,13,1111462,0,0,,,,,0,86244,0,0,0,60374,0,0 -17-43099815-C-G,17,43099815,rs759882045,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169His,p.Gln169His,c.507G>C,missense_variant,,,,1,1461460,6.842472595897254e-7,0,0,,,6.33,0.594,0.00,-0.0100,0.399,0.0800,0.0170,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5766,0,0,0,1111646,0,0,,,,,1,86254,0,0,0,60376,0,0 -17-43099815-C-T,17,43099815,rs759882045,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169Gln,p.Gln169Gln,c.507G>A,synonymous_variant,Likely benign,185706,,28,1461460,0.00001915892326851231,0,0,afr,0.00002376,2.87,,0.00,0.00,0.399,,,3,33464,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5766,0,0,25,1111646,0,0,,,,,0,86254,0,0,0,60376,0,0 -17-43099817-G-A,17,43099817,rs80357133,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169Ter,p.Gln169Ter,c.505C>T,stop_gained,Pathogenic,55367,,1,628578,0.0000015908924588515665,0,0,,,35.0,,0.0700,-0.260,2.29,,,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36056,0,0,0,53136,0,0,0,4148,0,0,0,349956,0,0,,,,,1,69794,0,0,0,33084,0,0 -17-43099819-T-G,17,43099819,rs273901743,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys168Thr,p.Lys168Thr,c.503A>C,missense_variant,Uncertain significance,55359,,3,628598,0.00000477252552505735,0,0,afr,0.00004583,18.7,0.838,0.00,0.00,1.84,0.0800,0.0310,3,17690,0,0,0,43738,0,0,0,20978,0,0,0,36060,0,0,0,53140,0,0,0,4148,0,0,0,349960,0,0,,,,,0,69796,0,0,0,33088,0,0 -17-43099824-C-G,17,43099824,rs1474499188,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg166Ser,p.Arg166Ser,c.498G>C,missense_variant,Conflicting interpretations of pathogenicity,1020068,,1,1461586,6.841882721919887e-7,0,0,,,25.9,0.606,0.0100,-0.0300,3.50,0.00,0.0120,0,33470,0,0,0,44722,0,0,0,26128,0,0,1,39688,0,0,0,53416,0,0,0,5768,0,0,0,1111758,0,0,,,,,0,86250,0,0,0,60386,0,0 -17-43099824-C-T,17,43099824,rs1474499188,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg166Arg,p.Arg166Arg,c.498G>A,synonymous_variant,Likely benign,2102276,,2,1461586,0.0000013683765443839773,0,0,,,13.1,,0.00,-0.0200,3.50,,,0,33470,0,0,1,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5768,0,0,1,1111758,0,0,,,,,0,86250,0,0,0,60386,0,0 -17-43099827-C-T,17,43099827,rs745321499,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Leu,p.Leu165Leu,c.495G>A,synonymous_variant,Likely benign,415587,,2,1461596,0.0000013683671821761965,0,0,,,10.5,,0.00,-0.0200,2.94,,,0,33468,0,0,0,44722,0,0,0,26130,0,0,1,39692,0,0,0,53416,0,0,0,5768,0,0,1,1111764,0,0,,,,,0,86254,0,0,0,60382,0,0 -17-43099828-A-G,17,43099828,rs2154528996,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Pro,p.Leu165Pro,c.494T>C,missense_variant,Uncertain significance,1175105,,4,1461588,0.000002736749343864345,0,0,nfe,8.4e-7,16.0,0.638,0.0100,0.00,-0.131,0.220,0.862,0,33468,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53416,0,0,0,5768,0,0,4,1111754,0,0,,,,,0,86258,0,0,0,60384,0,0 -17-43099829-G-C,17,43099829,rs1597887932,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Val,p.Leu165Val,c.493C>G,missense_variant,Uncertain significance,825313,,3,1461598,0.00000205254796462502,0,0,nfe,7.200000000000001e-7,15.5,0.574,0.00,0.00,0.828,0.370,0.549,0,33468,0,0,0,44722,0,0,0,26130,0,0,0,39692,0,0,0,53416,0,0,0,5768,0,0,3,1111766,0,0,,,,,0,86252,0,0,0,60384,0,0 -17-43099830-A-C,17,43099830,rs2154529054,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr164Thr,p.Thr164Thr,c.492T>G,synonymous_variant,Likely benign,1125055,,1,832968,0.000001200526310734626,0,0,,,7.71,,0.0100,0.0100,-0.722,,,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761774,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43099831-G-A,17,43099831,rs1555594889,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr164Ile,p.Thr164Ile,c.491C>T,missense_variant,Uncertain significance,482962,,1,1461564,6.841985708460252e-7,0,0,,,20.4,0.519,0.00,-0.0100,4.74,0.00,0.0150,0,33468,0,0,0,44720,0,0,0,26128,0,0,0,39692,0,0,0,53414,0,0,0,5766,0,0,1,1111742,0,0,,,,,0,86250,0,0,0,60384,0,0 -17-43099834-C-G,17,43099834,rs1369043501,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg163Thr,p.Arg163Thr,c.488G>C,missense_variant,Uncertain significance,531359,,4,780888,0.000005122373502986344,0,0,nfe,8e-7,22.2,0.590,0.00,0.0200,1.62,0.0100,0.119,0,59260,0,0,1,59032,0,0,0,24450,0,0,0,41258,0,0,0,63742,0,0,0,4442,0,0,2,417984,0,0,0,912,0,0,0,74610,0,0,1,35198,0,0 -17-43099836-C-T,17,43099836,rs769213707,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val162Val,p.Val162Val,c.486G>A,synonymous_variant,Conflicting interpretations of pathogenicity,422724,,1,152236,0.000006568748522031582,0,0,,,9.16,,0.00,0.0200,2.50,,,1,41468,0,0,0,15284,0,0,0,3470,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43099838-C-G,17,43099838,rs55816927,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val162Leu,p.Val162Leu,c.484G>C,missense_variant,Conflicting interpretations of pathogenicity,55303,,6,780824,0.000007684190035142363,0,0,nfe,0.0000045,18.7,0.580,0.00,-0.0200,0.215,0.210,0.230,1,59146,0,0,0,59018,0,0,0,24448,0,0,0,41268,0,0,0,63766,0,0,0,4462,0,0,5,418006,0,0,0,912,0,0,0,74618,0,0,0,35180,0,0 -17-43099839-A-G,17,43099839,rs1060504575,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr161Thr,p.Thr161Thr,c.483T>C,synonymous_variant,Likely benign,415581,,3,832968,0.000003601578932203878,0,0,nfe,0.00000105,10.9,,0.0100,0.0100,1.51,,,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761778,0,0,,,,,0,16456,0,0,0,27296,0,0 -17-43099840-G-C,17,43099840,rs876660138,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr161Ser,p.Thr161Ser,c.482C>G,missense_variant,Uncertain significance,1493878,,1,1461536,6.842116786723009e-7,0,0,,,17.4,0.529,0.00,-0.0200,1.74,0.0100,0.00700,0,33464,0,0,0,44722,0,0,0,26126,0,0,1,39690,0,0,0,53414,0,0,0,5766,0,0,0,1111712,0,0,,,,,0,86258,0,0,0,60384,0,0 -17-43099843-C-T,17,43099843,rs1016051167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly160Glu,p.Gly160Glu,c.479G>A,missense_variant,,,,1,628582,0.000001590882335160727,0,0,,,24.9,0.605,0.00,-0.0300,3.45,0.0200,0.779,0,17688,0,0,0,43736,0,0,0,20972,0,0,0,36064,0,0,0,53138,0,0,0,4146,0,0,1,349958,0,0,,,,,0,69792,0,0,0,33088,0,0 -17-43099844-C-T,17,43099844,rs62625285,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly160Arg,p.Gly160Arg,c.478G>A,missense_variant,Uncertain significance,233928,,13,1461494,0.00000889500743759468,0,0,nfe,0.00000652,30.0,0.621,0.190,0.400,5.95,0.0100,0.880,0,33466,0,0,0,44722,0,0,0,26120,0,0,0,39692,0,0,0,53410,0,0,0,5764,0,0,13,1111690,0,0,,,,,0,86250,0,0,0,60380,0,0 -17-43099845-A-G,17,43099845,rs779704727,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu159Leu,p.Leu159Leu,c.477T>C,synonymous_variant,Likely benign,427331,,1,628574,0.0000015909025826712528,0,0,,,11.5,,0.00,0.0100,2.28,,,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53138,0,0,0,4144,0,0,1,349950,0,0,,,,,0,69798,0,0,0,33084,0,0 -17-43099846-A-C,17,43099846,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu159Arg,p.Leu159Arg,c.476T>G,missense_variant,,,,1,832900,0.0000012006243246488174,0,0,,,23.4,0.589,0.00,0.0200,0.514,0.00,0.133,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761708,0,0,,,,,0,16458,0,0,0,27296,0,0 -17-43099848-G-A,17,43099848,rs2054302112,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn158Asn,p.Asn158Asn,c.474C>T,synonymous_variant,,,,1,152172,0.000006571511184712037,0,0,,,8.65,,0.00,-0.0100,0.912,,,0,41456,0,0,1,15268,0,0,0,3468,0,0,0,5206,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43099851-A-G,17,43099851,rs2154529469,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser157Ser,p.Ser157Ser,c.471T>C,synonymous_variant,,,,1,1460820,6.845470352267904e-7,0,0,,,9.67,,0.00,0.0200,1.81,,,0,33452,0,0,0,44716,0,0,0,26124,0,0,0,39688,0,0,0,53394,0,0,0,5766,0,0,1,1111094,0,0,,,,,0,86236,0,0,0,60350,0,0 -17-43099852-G-C,17,43099852,rs80357045,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser157Cys,p.Ser157Cys,c.470C>G,missense_variant,Uncertain significance,55266,,10,1613540,0.000006197553205994274,0,0,nfe,0.00000429,22.4,0.632,0.0100,0.00,5.80,0.0500,0.846,0,74912,0,0,0,59998,0,0,0,29598,0,0,0,44900,0,0,0,64028,0,0,0,6082,0,0,10,1179566,0,0,0,912,0,0,0,91080,0,0,0,62464,0,0 -17-43099854-G-C,17,43099854,rs748923729,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu156Leu,p.Leu156Leu,c.468C>G,synonymous_variant,Likely benign,415569,,8,1461274,0.000005474674838531309,0,0,nfe,0.0000026200000000000003,2.60,,0.0100,0.0200,0.696,,,0,33462,0,0,0,44716,0,0,0,26126,0,0,0,39694,0,0,0,53412,0,0,0,5766,0,0,7,1111484,0,0,,,,,0,86238,0,0,1,60376,0,0 -17-43099856-G-T,17,43099856,rs587778115,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu156Ile,p.Leu156Ile,c.466C>A,missense_variant,Uncertain significance,233464,,3,628558,0.000004772829237715533,0,0,,,19.3,0.498,0.00,0.0100,1.60,0.0100,0.164,0,17688,0,0,0,43732,0,0,0,20978,0,0,0,36066,0,0,0,53136,0,0,2,4146,0,0,1,349932,0,0,,,,,0,69798,0,0,0,33082,0,0 -17-43099857-T-C,17,43099857,rs864622260,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155Gln,p.Gln155Gln,c.465A>G,synonymous_variant,Likely benign,1106075,,1,1461222,6.84358707985508e-7,0,0,,,1.34,,0.0100,0.0100,-0.791,,,0,33456,0,0,0,44712,0,0,0,26124,0,0,0,39696,0,0,0,53408,0,0,0,5766,0,0,1,1111440,0,0,,,,,0,86252,0,0,0,60368,0,0 -17-43099857-T-A,17,43099857,rs864622260,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln155His,p.Gln155His,c.465A>T,missense_variant,Uncertain significance,232297,,1,152170,0.0000065715975553657095,0,0,,,6.50,0.510,0.00,0.0100,-0.791,,,0,41436,0,0,1,15276,0,0,0,3472,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 -17-43099857-T-G,17,43099857,rs864622260,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155His,p.Gln155His,c.465A>C,missense_variant,Uncertain significance,219804,,1,1461222,6.84358707985508e-7,0,0,,,6.79,0.510,0.00,0.0100,-0.791,0.0400,0.00,0,33456,0,0,0,44712,0,0,0,26124,0,0,0,39696,0,0,0,53408,0,0,0,5766,0,0,1,1111440,0,0,,,,,0,86252,0,0,0,60368,0,0 -17-43099859-G-C,17,43099859,rs80357180,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155Glu,p.Gln155Glu,c.463C>G,missense_variant,Benign,55247,,13,1460984,0.000008898112504996632,0,0,nfe,0.00000653,14.3,0.469,0.0100,0.0200,3.48,0.0800,0.00,0,33458,0,0,0,44716,0,0,0,26122,0,0,0,39696,0,0,0,53404,0,0,0,5766,0,0,13,1111236,0,0,,,,,0,86230,0,0,0,60356,0,0 -17-43099862-C-T,17,43099862,rs1064793318,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val154Ile,p.Val154Ile,c.460G>A,missense_variant,Uncertain significance,418595,,1,1460816,6.845489096504967e-7,0,0,,,14.3,0.513,0.00,0.0100,2.86,0.0500,0.0570,0,33450,0,0,0,44716,0,0,0,26122,0,0,1,39690,0,0,0,53410,0,0,0,5764,0,0,0,1111068,0,0,,,,,0,86240,0,0,0,60356,0,0 -17-43099863-A-G,17,43099863,rs1555594962,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser153Ser,p.Ser153Ser,c.459T>C,synonymous_variant,Likely benign,496385,,1,628536,0.000001590998765384958,0,0,,,4.35,,0.00,0.0300,0.364,,,0,17688,0,0,0,43734,0,0,0,20974,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,0,349916,0,0,,,,,0,69798,0,0,1,33082,0,0 -17-43099865-T-C,17,43099865,rs28897674,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser153Gly,p.Ser153Gly,c.457A>G,missense_variant,Uncertain significance,96934,,4,1460478,0.0000027388293421742743,0,0,nfe,7.200000000000001e-7,2.46,0.602,0.00,0.0200,0.229,0.840,0.162,0,33438,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53400,0,0,1,5766,0,0,3,1110776,0,0,,,,,0,86232,0,0,0,60350,0,0 -17-43099865-T-G,17,43099865,rs28897674,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser153Arg,p.Ser153Arg,c.457A>C,missense_variant,Conflicting interpretations of pathogenicity,37600,,60,1612720,0.000037204226400119055,0,0,nfe,0.00003344,18.7,0.631,0.00,0.0200,0.229,0.0400,0.462,0,74906,0,0,0,59992,0,0,0,29588,0,0,0,44886,0,0,0,64028,0,0,0,6082,0,0,51,1178818,0,0,0,912,0,0,0,91068,0,0,9,62440,0,0 -17-43099867-A-G,17,43099867,rs80357275,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu152Pro,p.Leu152Pro,c.455T>C,missense_variant,Conflicting interpretations of pathogenicity,55227,,10,1612714,0.0000062007274693467035,0,0,nfe,0.0000035900000000000004,21.3,0.568,0.00,0.0300,0.992,0.0500,0.806,1,74900,0,0,0,59984,0,0,0,29590,0,0,0,44882,0,0,0,64032,0,0,0,6080,0,0,9,1178838,0,0,0,912,0,0,0,91064,0,0,0,62432,0,0 -17-43099868-G-T,17,43099868,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu152Ile,p.Leu152Ile,c.454C>A,missense_variant,,,,1,1460402,6.847429680320898e-7,0,0,,,20.6,0.361,0.0100,0.00,2.95,0.0100,0.468,0,33442,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,1,1110698,0,0,,,,,0,86220,0,0,0,60356,0,0 -17-43099868-G-C,17,43099868,rs41286288,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu152Val,p.Leu152Val,c.454C>G,missense_variant,,,,1,1460402,6.847429680320898e-7,0,0,,,20.6,0.394,0.0300,0.0400,2.95,0.0200,0.392,0,33442,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,0,1110698,0,0,,,,,0,86220,0,0,1,60356,0,0 -17-43099876-T-G,17,43099876,rs397507233,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu149Ala,p.Glu149Ala,c.446A>C,missense_variant,Conflicting interpretations of pathogenicity,37594,,16,1610368,0.000009935617200540497,0,0,eas,0.00020580999999999998,24.3,0.544,0.00,-0.0200,3.00,0.120,0.297,0,74852,0,0,0,59986,0,0,0,29586,0,0,15,44876,0,0,0,64030,0,0,0,6070,0,0,0,1176662,0,0,0,912,0,0,0,91020,0,0,1,62374,0,0 -17-43099880-G-T,17,43099880,rs876659614,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln148Lys,p.Gln148Lys,c.442C>A,missense_variant,Uncertain significance,233408,,1,152202,0.000006570215897294385,0,0,,,22.7,0.517,0.00,0.340,8.80,0.200,0.344,1,41452,0,0,0,15280,0,0,0,3470,0,0,0,5204,0,0,0,10602,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43099881-C-A,17,43099881,rs1351019392,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-1G>T,,c.442-1G>T,splice_acceptor_variant,Conflicting interpretations of pathogenicity,462651,lof_flag,3,1606432,0.0000018674926794286966,0,0,amr,0.00001328,24.1,,0.980,-0.820,1.80,,,0,74750,0,0,3,59958,0,0,0,29568,0,0,0,44854,0,0,0,64008,0,0,0,6062,0,0,0,1173156,0,0,0,910,0,0,0,90942,0,0,0,62224,0,0 -17-43099882-TA-T,17,43099882,rs273900733,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-3del,,c.442-3del,splice_region_variant,Conflicting interpretations of pathogenicity,125866,,2,1453288,0.0000013761897160094902,0,0,nfe,2.999999999999999e-7,14.0,,0.0900,-0.200,2.31,,,0,33290,0,0,0,44688,0,0,0,26088,0,0,0,39650,0,0,0,53382,0,0,0,5746,0,0,2,1104268,0,0,,,,,0,86088,0,0,0,60088,0,0 -17-43099883-A-C,17,43099883,rs8176139,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-3T>G,,c.442-3T>G,splice_region_variant,Uncertain significance,485396,,1,1453086,6.881905131561381e-7,0,0,,,23.6,,0.860,-0.800,1.06,,,0,33326,0,0,0,44690,0,0,0,26084,0,0,0,39634,0,0,0,53370,0,0,0,5748,0,0,1,1104048,0,0,,,,,0,86090,0,0,0,60096,0,0 -17-43099883-A-G,17,43099883,rs8176139,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-3T>C,,c.442-3T>C,splice_region_variant,Uncertain significance,409351,,2,1605314,0.0000012458621802338982,0,0,,,14.6,,0.0300,0.180,1.06,,,2,74800,0,0,0,59964,0,0,0,29556,0,0,0,44836,0,0,0,63998,0,0,0,6064,0,0,0,1172072,0,0,0,912,0,0,0,90926,0,0,0,62186,0,0 -17-43099890-A-G,17,43099890,rs200991398,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-10T>C,,c.442-10T>C,intron_variant,Likely benign,462650,,1,152336,0.000006564436508770087,0,0,,,9.29,,0.0100,0.100,4.05,,,1,41574,0,0,0,15294,0,0,0,3472,0,0,0,5192,0,0,0,10622,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2116,0,0 -17-43099891-T-C,17,43099891,rs777009084,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-11A>G,,c.442-11A>G,intron_variant,Likely benign,1100503,,3,1444506,0.0000020768345718190164,0,0,nfe,7.3e-7,2.04,,0.00,0.0400,-0.0440,,,0,33090,0,0,0,44670,0,0,0,26032,0,0,0,39582,0,0,0,53360,0,0,0,5724,0,0,3,1096320,0,0,,,,,0,85878,0,0,0,59850,0,0 -17-43099892-G-A,17,43099892,rs759612271,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-12C>T,,c.442-12C>T,intron_variant,Likely benign,1605493,,1,1438282,6.952739448870249e-7,0,0,,,2.83,,0.00,0.0400,1.24,,,0,32946,0,0,0,44658,0,0,0,26000,0,0,1,39536,0,0,0,53342,0,0,0,5718,0,0,0,1090732,0,0,,,,,0,85742,0,0,0,59608,0,0 -17-43099893-G-C,17,43099893,rs2054309198,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-13C>G,,c.442-13C>G,intron_variant,Uncertain significance,949318,,1,1432764,6.979516514931977e-7,0,0,,,17.6,,0.840,-0.720,0.354,,,0,32844,0,0,0,44650,0,0,0,25964,0,0,0,39516,0,0,0,53330,0,0,0,5708,0,0,1,1085646,0,0,,,,,0,85688,0,0,0,59418,0,0 -17-43099894-T-C,17,43099894,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-14A>G,,c.442-14A>G,intron_variant,,,,1,1434066,6.973179756022387e-7,0,0,,,5.75,,0.00,0.0400,0.179,,,0,32872,0,0,0,44658,0,0,0,25972,0,0,0,39520,0,0,0,53342,0,0,0,5712,0,0,0,1086830,0,0,,,,,0,85690,0,0,1,59470,0,0 -17-43099897-A-C,17,43099897,rs1555595010,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-17T>G,,c.442-17T>G,intron_variant,,,,1,627892,0.0000015926305797812364,0,0,,,14.3,,0.0400,0.240,4.56,,,0,17674,0,0,0,43710,0,0,0,20954,0,0,1,36026,0,0,0,53066,0,0,0,4144,0,0,0,349492,0,0,,,,,0,69780,0,0,0,33046,0,0 -17-43099902-A-T,17,43099902,rs1210972484,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-22T>A,,c.442-22T>A,intron_variant,,,,1,1421184,7.036386562190399e-7,0,0,,,2.50,,0.0400,0.100,-0.250,,,0,32612,0,0,0,44636,0,0,0,25898,0,0,0,39416,0,0,0,53328,0,0,0,5684,0,0,0,1075126,0,0,,,,,1,85422,0,0,0,59062,0,0 -17-43099904-T-G,17,43099904,rs1183837444,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-24A>C,,c.442-24A>C,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,11.0,,0.120,-0.200,4.20,,,1,41432,0,0,0,15278,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 -17-43099905-C-A,17,43099905,rs2154530167,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-25G>T,,c.442-25G>T,intron_variant,,,,1,627464,0.0000015937169303736947,0,0,,,1.78,,0.0100,-0.0500,1.52,,,0,17662,0,0,0,43692,0,0,0,20932,0,0,0,36012,0,0,0,53034,0,0,0,4140,0,0,0,349290,0,0,,,,,1,69676,0,0,0,33026,0,0 -17-43099907-A-C,17,43099907,rs1255456130,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-27T>G,,c.442-27T>G,intron_variant,,,,11,779756,0.000014106977054360595,0,0,amr,0.00010369999999999999,6.80,,0.0400,0.0900,1.47,,,0,59132,0,0,11,58984,0,0,0,24398,0,0,0,41212,0,0,0,63664,0,0,0,4454,0,0,0,417300,0,0,0,912,0,0,0,74586,0,0,0,35114,0,0 -17-43099908-G-T,17,43099908,rs2054310246,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-28C>A,,c.442-28C>A,intron_variant,,,,1,1384126,7.224775779083696e-7,0,0,,,0.975,,0.00,0.0200,1.49,,,0,31810,0,0,0,44576,0,0,0,25648,0,0,0,39214,0,0,0,53236,0,0,0,5616,0,0,1,1041538,0,0,,,,,0,84658,0,0,0,57830,0,0 -17-43099909-C-T,17,43099909,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-29G>A,,c.442-29G>A,intron_variant,,,,2,627184,0.0000031888568585933314,0,0,nfe,9.5e-7,1.06,,0.00,0.00,-0.858,,,0,17654,0,0,0,43676,0,0,0,20928,0,0,0,35996,0,0,0,53000,0,0,0,4136,0,0,2,349058,0,0,,,,,0,69730,0,0,0,33006,0,0 -17-43099910-A-G,17,43099910,rs2054310383,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-30T>C,,c.442-30T>C,intron_variant,,,,1,627332,0.0000015940522721621088,0,0,,,6.80,,0.0300,0.110,1.09,,,0,17656,0,0,0,43688,0,0,0,20930,0,0,0,36000,0,0,0,53014,0,0,0,4136,0,0,1,349164,0,0,,,,,0,69736,0,0,0,33008,0,0 -17-43099911-A-G,17,43099911,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-31T>C,,c.442-31T>C,intron_variant,,,,1,627136,0.0000015945504643330953,0,0,,,6.38,,0.0400,0.0900,0.472,,,0,17646,0,0,0,43682,0,0,1,20920,0,0,0,35994,0,0,0,52990,0,0,0,4138,0,0,0,349032,0,0,,,,,0,69732,0,0,0,33002,0,0 -17-43099914-G-A,17,43099914,rs799923,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-34C>T,,c.442-34C>T,intron_variant,Benign,125864,,314168,1516640,0.20714737841544467,35728,0,nfe,0.2344552,0.328,,0.00,0.00,-0.546,,,2845,72970,75,0,6501,59826,415,0,7421,28944,937,0,29,44330,0,0,11796,63720,1103,0,1334,5880,151,0,256797,1091736,30142,0,165,908,16,0,15883,89062,1666,0,11397,59264,1223,0 -17-43099914-G-T,17,43099914,rs799923,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-34C>A,,c.442-34C>A,intron_variant,Uncertain significance,918518,,2,1366098,0.0000014640238108832602,0,0,,,0.432,,0.0100,0.0300,-0.546,,,0,31422,0,0,0,44542,0,0,0,25492,0,0,1,39144,0,0,0,53172,0,0,0,5592,0,0,1,1025262,0,0,,,,,0,84274,0,0,0,57198,0,0 -17-43099915-T-C,17,43099915,rs1219418966,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-35A>G,,c.442-35A>G,intron_variant,,,,2,626514,0.0000031922670522925265,0,0,,,1.50,,0.0100,0.0200,-0.357,,,0,17646,0,0,0,43686,0,0,0,20886,0,0,1,35994,0,0,0,52928,0,0,0,4136,0,0,1,348582,0,0,,,,,0,69698,0,0,0,32958,0,0 -17-43099916-T-G,17,43099916,rs1264366114,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-36A>C,,c.442-36A>C,intron_variant,,,,3,778458,0.000003853772457858998,0,0,amr,0.00001351,5.07,,0.00,0.0200,0.930,,,0,59090,0,0,3,58950,0,0,0,24346,0,0,0,41190,0,0,0,63526,0,0,0,4450,0,0,0,416462,0,0,0,912,0,0,0,74518,0,0,0,35014,0,0 -17-43099917-G-A,17,43099917,rs1200121055,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-37C>T,,c.442-37C>T,intron_variant,,,,5,1485964,0.000003364819066949132,0,0,nfe,0.0000013800000000000001,5.68,,0.00,0.00,1.64,,,0,72464,0,0,0,59776,0,0,0,28724,0,0,0,44202,0,0,0,63706,0,0,0,5864,0,0,5,1063498,0,0,0,912,0,0,0,88476,0,0,0,58342,0,0 -17-43099918-G-T,17,43099918,rs1488130257,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-38C>A,,c.442-38C>A,intron_variant,,,,4,1485740,0.00000269226109548104,0,0,nfe,3.1e-7,4.61,,0.0200,0.0500,0.998,,,0,72464,0,0,0,59754,0,0,0,28716,0,0,0,44232,0,0,0,63706,0,0,2,5854,0,0,2,1063282,0,0,0,912,0,0,0,88518,0,0,0,58302,0,0 -17-43099920-C-T,17,43099920,rs752813317,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-40G>A,,c.442-40G>A,intron_variant,,,,4,1316792,0.0000030376855266435396,0,0,nfe,9.6e-7,0.361,,0.00,0.0200,-0.929,,,0,30650,0,0,0,44462,0,0,0,25166,0,0,0,38930,0,0,0,53084,0,0,0,5504,0,0,4,980128,0,0,,,,,0,83260,0,0,0,55608,0,0 -17-43099923-T-A,17,43099923,rs2154530266,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-43A>T,,c.442-43A>T,intron_variant,,,,1,1288464,7.761179202523315e-7,0,0,,,5.66,,0.00,0.0100,-0.0710,,,0,29994,0,0,0,44414,0,0,0,24960,0,0,0,38770,0,0,0,52998,0,0,0,5456,0,0,1,954530,0,0,,,,,0,82726,0,0,0,54616,0,0 -17-43099925-C-T,17,43099925,rs2154530273,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-45G>A,,c.442-45G>A,intron_variant,,,,1,1289134,7.757145494572325e-7,0,0,,,4.78,,0.00,0.0100,0.464,,,0,29976,0,0,0,44396,0,0,0,24954,0,0,0,38768,0,0,0,52982,0,0,0,5458,0,0,1,955248,0,0,,,,,0,82704,0,0,0,54648,0,0 -17-43099926-T-C,17,43099926,rs1426777259,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-46A>G,,c.442-46A>G,intron_variant,,,,3,1444388,0.0000020770042398579885,0,0,,,7.98,,0.0100,0.0600,0.868,,,0,71648,0,0,0,59722,0,0,0,28448,0,0,1,43976,0,0,0,63630,0,0,0,5762,0,0,0,1025814,0,0,0,912,0,0,0,87616,0,0,2,56860,0,0 -17-43099929-G-A,17,43099929,rs763155937,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-49C>T,,c.442-49C>T,intron_variant,,,,3,1262592,0.000002376064476885645,0,0,amr,0.00001794,5.57,,0.00,0.0100,0.830,,,0,29418,0,0,3,44342,0,0,0,24766,0,0,0,38618,0,0,0,52872,0,0,0,5426,0,0,0,931274,0,0,,,,,0,82212,0,0,0,53664,0,0 -17-43099929-G-T,17,43099929,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-49C>A,,c.442-49C>A,intron_variant,,,,1,1262588,7.920240014953413e-7,0,0,,,4.81,,0.00,0.0200,0.830,,,0,29418,0,0,0,44342,0,0,0,24766,0,0,0,38618,0,0,0,52872,0,0,0,5426,0,0,1,931270,0,0,,,,,0,82212,0,0,0,53664,0,0 -17-43099930-C-T,17,43099930,rs1174795969,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-50G>A,,c.442-50G>A,intron_variant,,,,6,1249790,0.000004800806535497963,0,0,sas,0.000023830000000000004,0.778,,0.00,0.00,-0.882,,,0,29160,0,0,0,44314,0,0,0,24686,0,0,0,38562,0,0,0,52802,0,0,0,5400,0,0,1,919776,0,0,,,,,5,81918,0,0,0,53172,0,0 -17-43099937-T-C,17,43099937,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-57A>G,,c.442-57A>G,intron_variant,,,,5,1192534,0.000004192752575607907,0,0,nfe,0.0000016899999999999997,3.64,,0.00,0.0300,0.0410,,,0,28032,0,0,0,44220,0,0,0,24260,0,0,0,38272,0,0,0,52640,0,0,0,5288,0,0,5,868012,0,0,,,,,0,80582,0,0,0,51228,0,0 -17-43099938-C-G,17,43099938,rs1489415451,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-58G>C,,c.442-58G>C,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,5.30,,0.00,0.0100,0.197,,,0,41440,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43099938-C-T,17,43099938,rs1489415451,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-58G>A,,c.442-58G>A,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,5.76,,0.00,0.0100,0.197,,,0,41440,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43099941-G-T,17,43099941,rs2054311864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-61C>A,,c.442-61C>A,intron_variant,,,,1,1150980,8.688248275382718e-7,0,0,,,0.130,,0.00,0.0300,-0.658,,,1,27164,0,0,0,44142,0,0,0,23954,0,0,0,38032,0,0,0,52468,0,0,0,5202,0,0,0,830472,0,0,,,,,0,79698,0,0,0,49848,0,0 -17-43099941-G-GA,17,43099941,rs2054311963,G,GA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-62dup,,c.442-62dup,intron_variant,,,,2,1303180,0.0000015347074080326585,0,0,,,4.52,,0.110,0.260,-0.658,,,2,68606,0,0,0,59406,0,0,0,27426,0,0,0,43234,0,0,0,63094,0,0,0,5518,0,0,0,898516,0,0,0,912,0,0,0,84530,0,0,0,51938,0,0 -17-43099941-G-A,17,43099941,rs2054311864,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-61C>T,,c.442-61C>T,intron_variant,,,,1,1150982,8.688233178277332e-7,0,0,,,0.199,,0.00,0.0200,-0.658,,,0,27164,0,0,0,44142,0,0,0,23954,0,0,0,38032,0,0,0,52468,0,0,0,5202,0,0,1,830474,0,0,,,,,0,79698,0,0,0,49848,0,0 -17-43099943-A-G,17,43099943,rs2054312067,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-63T>C,,c.442-63T>C,intron_variant,,,,2,1137558,0.0000017581521118044092,0,0,,,8.78,,0.0100,0.0100,0.838,,,0,26838,0,0,0,44110,0,0,0,23890,0,0,0,37936,0,0,0,52396,0,0,0,5176,0,0,0,818446,0,0,,,,,1,79424,0,0,1,49342,0,0 -17-43099944-G-A,17,43099944,rs2054312183,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-64C>T,,c.442-64C>T,intron_variant,,,,3,1262224,0.0000023767572158349074,0,0,,,1.65,,0.0500,0.110,0.294,,,1,67732,0,0,0,59340,0,0,0,27158,0,0,0,42970,0,0,0,62860,0,0,0,5442,0,0,2,861620,0,0,0,912,0,0,0,83664,0,0,0,50526,0,0 -17-43099948-A-AAGGG,17,43099948,,A,AAGGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-69_442-68insCCCT,,c.442-69_442-68insCCCT,intron_variant,,,,2,1054796,0.0000018961012366372265,0,0,sas,0.00000427,3.75,,0.0100,0.0400,0.923,,,0,25260,0,0,0,43964,0,0,0,23282,0,0,0,37482,0,0,0,52080,0,0,0,5006,0,0,0,743390,0,0,,,,,2,77740,0,0,0,46592,0,0 -17-43099950-C-G,17,43099950,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-70G>C,,c.442-70G>C,intron_variant,,,,1,1042638,9.591056531605408e-7,0,0,,,7.14,,0.310,0.370,2.07,,,0,25024,0,0,0,43930,0,0,0,23182,0,0,0,37432,0,0,0,51940,0,0,0,4980,0,0,1,732466,0,0,,,,,0,77484,0,0,0,46200,0,0 -17-43099950-C-A,17,43099950,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-70G>T,,c.442-70G>T,intron_variant,,,,2,1042638,0.0000019182113063210817,0,0,sas,0.00000428,7.71,,0.420,0.440,2.07,,,0,25024,0,0,0,43930,0,0,0,23182,0,0,0,37432,0,0,0,51940,0,0,0,4980,0,0,0,732466,0,0,,,,,2,77484,0,0,0,46200,0,0 -17-43104047-G-C,17,43104047,rs2154548059,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+75C>G,,c.441+75C>G,intron_variant,,,,1,1378840,7.252473093324824e-7,0,0,,,4.12,,0.00,0.00,0.337,,,0,30312,0,0,0,39352,0,0,0,25114,0,0,0,39122,0,0,0,43608,0,0,0,4566,0,0,0,1057822,0,0,,,,,1,81616,0,0,0,57328,0,0 -17-43104047-G-T,17,43104047,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+75C>A,,c.441+75C>A,intron_variant,,,,5,1378828,0.000003626268105956653,0,0,sas,0.000023900000000000005,3.98,,0.00,0.00,0.337,,,0,30312,0,0,0,39352,0,0,0,25114,0,0,0,39122,0,0,0,43608,0,0,0,4566,0,0,0,1057816,0,0,,,,,5,81610,0,0,0,57328,0,0 -17-43104050-T-A,17,43104050,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+72A>T,,c.441+72A>T,intron_variant,,,,42,1373204,0.000030585404644903454,0,0,amr,0.00015469999999999997,4.92,,0.00,0.00,0.272,,,0,30010,0,0,13,37070,0,0,3,24936,0,0,0,39126,0,0,16,43202,0,0,0,4552,0,0,7,1056434,0,0,,,,,0,80780,0,0,3,57094,0,0 -17-43104051-C-G,17,43104051,rs1567809719,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+71G>C,,c.441+71G>C,intron_variant,,,,1,1379948,7.24664987376336e-7,0,0,,,3.16,,0.00,0.00,0.340,,,0,30480,0,0,0,39502,0,0,0,25148,0,0,0,39220,0,0,0,44068,0,0,0,4646,0,0,0,1058112,0,0,,,,,0,81310,0,0,1,57462,0,0 -17-43104054-T-C,17,43104054,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+68A>G,,c.441+68A>G,intron_variant,,,,2,1366776,0.0000014632975703407142,0,0,nfe,3.200000000000001e-7,4.82,,0.00,0.00,0.272,,,0,29790,0,0,0,37730,0,0,0,24784,0,0,0,38938,0,0,0,43740,0,0,0,4622,0,0,2,1050094,0,0,,,,,0,80248,0,0,0,56830,0,0 -17-43104055-C-G,17,43104055,rs1459256031,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+67G>C,,c.441+67G>C,intron_variant,,,,1,1368250,7.308605883427736e-7,0,0,,,2.49,,0.00,0.00,0.340,,,1,30094,0,0,0,39046,0,0,0,24872,0,0,0,38958,0,0,0,43984,0,0,0,4666,0,0,0,1049406,0,0,,,,,0,80324,0,0,0,56900,0,0 -17-43104056-TC-T,17,43104056,rs1176931997,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+65del,,c.441+65del,intron_variant,,,,3,1342458,0.0000022347067841228554,0,0,nfe,7.3e-7,0.233,,0.00,-0.0200,0.272,,,0,29704,0,0,0,37952,0,0,0,24438,0,0,0,38490,0,0,0,43076,0,0,0,4612,0,0,3,1028282,0,0,,,,,0,80008,0,0,0,55896,0,0 -17-43104057-CA-C,17,43104057,rs72434991,CA,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+64del,,c.441+64del,intron_variant,Benign,983028,,64224,120264,0.5340251446817003,16451,0,afr,0.6741060300000001,0.362,,0.00,0.00,-0.550,,,26108,34674,9428,0,5643,11406,1110,0,1246,2894,209,0,2104,4218,458,0,3214,6306,647,0,129,234,27,0,22311,54202,3704,0,249,650,36,0,2345,4000,637,0,875,1680,195,0 -17-43104057-C-CAAAAAAAA,17,43104057,,C,CAAAAAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+57_441+64dup,,c.441+57_441+64dup,intron_variant,,,,1,1179398,8.47890194828209e-7,0,0,,,0.378,,0.00,0.00,-0.550,,,0,24740,0,0,0,33402,0,0,0,21532,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,1,903242,0,0,,,,,0,71170,0,0,0,49228,0,0 -17-43104057-C-CAA,17,43104057,,C,CAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+63_441+64dup,,c.441+63_441+64dup,intron_variant,,,,83,1177338,0.00007049802180852058,0,0,sas,0.00005265999999999998,0.429,,0.00,0.00,-0.550,,,3,24730,0,0,5,33342,0,0,3,21496,0,0,0,34094,0,0,4,37832,0,0,0,4034,0,0,57,901596,0,0,,,,,8,71084,0,0,3,49130,0,0 -17-43104057-C-CA,17,43104057,rs72434991,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+64dup,,c.441+64dup,intron_variant,,,,33482,1229174,0.027239430707125274,1,0,nfe,0.03000017,0.440,,0.00,0.00,-0.550,,,583,59290,1,0,896,43032,0,0,605,23194,0,0,778,36802,0,0,870,42560,0,0,72,4138,0,0,27238,898894,0,0,0,648,0,0,1075,72406,0,0,1365,48210,0,0 -17-43104057-CAA-C,17,43104057,rs72434991,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+63_441+64del,,c.441+63_441+64del,intron_variant,,,,2970,1284456,0.002312262934658719,1,0,sas,0.00392522,1.25,,0.00,0.00,-0.550,,,252,58650,0,0,124,44302,0,0,62,24108,0,0,106,37778,0,0,162,43660,0,0,14,4212,0,0,1785,947642,1,0,0,650,0,0,316,73198,0,0,149,50256,0,0 -17-43104057-CAAAAAAAAAAAAG-C,17,43104057,rs1422993794,CAAAAAAAAAAAAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+64del,,c.441+52_441+64del,intron_variant,,,,3,1300130,0.0000023074615615361542,0,0,,,1.60,,0.00,0.00,-0.550,,,2,59422,0,0,0,44840,0,0,0,24434,0,0,0,38386,0,0,0,44252,0,0,0,4290,0,0,1,957738,0,0,0,650,0,0,0,75220,0,0,0,50898,0,0 -17-43104057-C-CAAA,17,43104057,,C,CAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+62_441+64dup,,c.441+62_441+64dup,intron_variant,,,,1,1179310,8.479534643138785e-7,0,0,,,0.420,,0.00,0.00,-0.550,,,0,24740,0,0,0,33400,0,0,0,21526,0,0,0,34142,0,0,0,37898,0,0,0,4036,0,0,1,903174,0,0,,,,,0,71170,0,0,0,49224,0,0 -17-43104057-C-A,17,43104057,rs1409351516,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+65G>T,,c.441+65G>T,intron_variant,,,,2,1179390,0.0000016957918924189623,0,0,amr,0.00008841999999999997,0.556,,0.00,-0.0200,-0.550,,,0,24740,0,0,1,33400,0,0,0,21530,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,1,903240,0,0,,,,,0,71168,0,0,0,49228,0,0 -17-43104057-C-G,17,43104057,rs1409351516,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+65G>C,,c.441+65G>C,intron_variant,,,,2,120786,0.000016558210388621197,0,0,eas,0.00008340999999999999,0.605,,0.00,-0.0300,-0.550,,,0,34756,0,0,0,11452,0,0,0,2902,0,0,2,4230,0,0,0,6350,0,0,0,234,0,0,0,54492,0,0,0,650,0,0,0,4032,0,0,0,1688,0,0 -17-43104057-CAAA-C,17,43104057,rs72434991,CAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+62_441+64del,,c.441+62_441+64del,intron_variant,,,,16,1299760,0.000012309964916599987,0,0,sas,0.00001741,1.88,,0.00,0.00,-0.550,,,1,59410,0,0,0,44828,0,0,2,24430,0,0,0,38374,0,0,3,44236,0,0,0,4290,0,0,4,957454,0,0,0,650,0,0,4,75206,0,0,2,50882,0,0 -17-43104057-CAAAAAAA-C,17,43104057,,CAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+58_441+64del,,c.441+58_441+64del,intron_variant,,,,1,1179398,8.47890194828209e-7,0,0,,,1.75,,0.00,0.00,-0.550,,,0,24740,0,0,0,33402,0,0,0,21532,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,0,903242,0,0,,,,,0,71170,0,0,1,49228,0,0 -17-43104058-AAAAAAAAAAAAG-A,17,43104058,rs536390258,AAAAAAAAAAAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+63del,,c.441+52_441+63del,intron_variant,Benign,264809,,663,699006,0.0009484897125346563,2,0,afr,0.011751359999999985,1.63,,0.00,0.00,-0.727,,,310,23964,1,0,14,18124,0,0,4,8582,0,0,4,10154,0,0,3,14684,0,0,1,1528,0,0,286,579580,0,0,0,858,0,0,21,20014,1,0,20,21518,0,0 -17-43104059-A-AAAAAAAAAAAG,17,43104059,rs869087267,A,AAAAAAAAAAAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+62dup,,c.441+52_441+62dup,intron_variant,,,,1,601246,0.0000016632127282343666,0,0,,,1.77,,0.00,-0.0100,0.271,,,0,10852,0,0,0,17378,0,0,0,10682,0,0,0,15890,0,0,0,17650,0,0,0,1816,0,0,1,477542,0,0,,,,,0,25078,0,0,0,24358,0,0 -17-43104059-AAAAAAAAAAAG-A,17,43104059,rs869087267,AAAAAAAAAAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+62del,,c.441+52_441+62del,intron_variant,,,,23,721250,0.00003188908145580589,0,0,afr,0.00002714,1.67,,0.00,0.00,0.271,,,3,29282,0,0,1,30584,0,0,0,13912,0,0,1,20502,0,0,2,27096,0,0,0,2074,0,0,14,541322,0,0,0,870,0,0,1,29556,0,0,1,26052,0,0 -17-43104060-AAAAAAAAAAG-A,17,43104060,rs1567809750,AAAAAAAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+61del,,c.441+52_441+61del,intron_variant,,,,87,657194,0.0001323810016524801,0,0,sas,0.00009914999999999997,1.70,,0.00,-0.0100,0.271,,,1,18796,0,0,2,20200,0,0,0,11588,0,0,1,18658,0,0,2,19332,0,0,1,2100,0,0,68,510880,0,0,,,,,7,28120,0,0,5,27520,0,0 -17-43104066-AAAAGAAAAAAAAAAGAAAAG-A,17,43104066,rs1406492448,AAAAGAAAAAAAAAAGAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+36_441+55del,,c.441+36_441+55del,intron_variant,,,,1,665720,0.0000015021330289010395,0,0,,,1.98,,0.00,0.0100,0.248,,,0,19444,0,0,1,20336,0,0,0,11698,0,0,0,18884,0,0,0,20226,0,0,0,2306,0,0,0,516674,0,0,,,,,0,28276,0,0,0,27876,0,0 -17-43104066-A-G,17,43104066,rs2054606112,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+56T>C,,c.441+56T>C,intron_variant,,,,1,146452,0.000006828175784557398,0,0,nfe,0.00002473,2.63,,0.00,0.00,0.248,,,0,40186,0,0,0,14884,0,0,0,3284,0,0,0,5014,0,0,0,9808,0,0,0,302,0,0,1,65348,0,0,0,874,0,0,0,4730,0,0,0,2022,0,0 -17-43104067-A-G,17,43104067,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+55T>C,,c.441+55T>C,intron_variant,,,,2,665844,0.0000030037065739122076,0,0,,,5.12,,0.00,0.00,0.248,,,1,19442,0,0,0,20308,0,0,0,11688,0,0,0,18880,0,0,0,20328,0,0,0,2314,0,0,1,516750,0,0,,,,,0,28264,0,0,0,27870,0,0 -17-43104067-AAAG-A,17,43104067,rs1567809775,AAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+54del,,c.441+52_441+54del,intron_variant,,,,1,665860,0.0000015018171988105609,0,0,,,1.39,,0.00,0.00,0.248,,,0,19442,0,0,1,20308,0,0,0,11690,0,0,0,18880,0,0,0,20328,0,0,0,2314,0,0,0,516762,0,0,,,,,0,28264,0,0,0,27872,0,0 -17-43104068-A-G,17,43104068,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+54T>C,,c.441+54T>C,intron_variant,,,,12,663682,0.000018080948406013723,0,0,afr,0.000042289999999999997,4.72,,0.00,0.00,0.242,,,3,19216,0,0,0,20222,0,0,0,11686,0,0,1,18846,0,0,1,20248,0,0,0,2320,0,0,5,515150,0,0,,,,,0,28222,0,0,2,27772,0,0 -17-43104068-A-AG,17,43104068,,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+53_441+54insC,,c.441+53_441+54insC,intron_variant,,,,2,663816,0.00000301288308808465,0,0,,,1.58,,0.00,0.00,0.242,,,0,19228,0,0,1,20224,0,0,0,11688,0,0,0,18850,0,0,0,20260,0,0,0,2320,0,0,1,515242,0,0,,,,,0,28224,0,0,0,27780,0,0 -17-43104069-A-G,17,43104069,rs975355778,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+53T>C,,c.441+53T>C,intron_variant,,,,12,144454,0.000083071427582483,0,0,afr,0.001192,4.80,,0.00,0.00,0.244,,,11,38492,0,0,1,14788,0,0,0,3282,0,0,0,4994,0,0,0,9746,0,0,0,300,0,0,0,65254,0,0,0,876,0,0,0,4722,0,0,0,2000,0,0 -17-43104069-A-T,17,43104069,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+53T>A,,c.441+53T>A,intron_variant,,,,4,647506,0.000006177548933909492,0,0,nfe,0.0000018599999999999998,4.19,,0.00,0.00,0.244,,,0,16404,0,0,0,19916,0,0,0,11544,0,0,0,18412,0,0,0,20104,0,0,0,2276,0,0,4,503882,0,0,,,,,0,27968,0,0,0,27000,0,0 -17-43104069-AG-A,17,43104069,rs373202012,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52del,,c.441+52del,intron_variant,,,,44,647344,0.00006797004374799179,0,0,amr,0.00022094999999999998,0.313,,0.00,0.00,0.244,,,2,16390,0,0,13,19914,0,0,0,11542,0,0,1,18406,0,0,9,20082,0,0,2,2276,0,0,14,503778,0,0,,,,,0,27966,0,0,3,26990,0,0 -17-43104070-G-GAA,17,43104070,,G,GAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+50_441+51dup,,c.441+50_441+51dup,intron_variant,,,,4,567592,0.000007047315677458456,0,0,nfe,7.600000000000001e-7,1.31,,0.00,0.00,-0.807,,,0,14476,0,0,0,17562,0,0,1,10298,0,0,0,16622,0,0,1,17574,0,0,0,2022,0,0,2,438176,0,0,,,,,0,27242,0,0,0,23620,0,0 -17-43104070-GAAAAAAAAAAGAA-G,17,43104070,,GAAAAAAAAAAGAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+39_441+51del,,c.441+39_441+51del,intron_variant,,,,1,567704,0.0000017614813353437708,0,0,,,1.63,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,0,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,1,438264,0,0,,,,,0,27242,0,0,0,23632,0,0 -17-43104070-G-T,17,43104070,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52C>A,,c.441+52C>A,intron_variant,,,,2,567696,0.0000035230123164510584,0,0,nfe,7.600000000000001e-7,0.671,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,0,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,2,438256,0,0,,,,,0,27242,0,0,0,23632,0,0 -17-43104070-GA-G,17,43104070,rs921962743,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51del,,c.441+51del,intron_variant,Likely benign,1299767,,3837,703890,0.005451135830882667,5,0,nfe,0.0065744,1.05,,0.00,0.00,-0.807,,,33,50444,0,0,67,31542,0,0,46,13498,0,0,6,21382,0,0,33,26440,0,0,7,2288,0,0,3384,500188,5,0,0,828,0,0,164,31790,0,0,97,25490,0,0 -17-43104070-GAAAAAA-G,17,43104070,,GAAAAAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+46_441+51del,,c.441+46_441+51del,intron_variant,,,,3,567704,0.000005284444006031312,0,0,nfe,7.600000000000001e-7,1.28,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,1,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,2,438264,0,0,,,,,0,27242,0,0,0,23632,0,0 -17-43104070-G-GA,17,43104070,rs921962743,G,GA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51dup,,c.441+51dup,intron_variant,,,,2754,684540,0.004023139626610571,0,0,nfe,0.00448119,1.34,,0.00,0.00,-0.807,,,18,50308,0,0,36,31208,0,0,60,13168,0,0,65,20896,0,0,84,25980,0,0,5,2244,0,0,2246,483852,0,0,0,828,0,0,119,31314,0,0,121,24742,0,0 -17-43104071-A-T,17,43104071,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+51T>A,,c.441+51T>A,intron_variant,,,,1,1369244,7.30330021530129e-7,0,0,,,3.96,,0.00,0.00,-0.896,,,0,30164,0,0,0,38758,0,0,0,24556,0,0,0,38282,0,0,0,47526,0,0,0,5260,0,0,1,1047722,0,0,,,,,0,80150,0,0,0,56826,0,0 -17-43104071-A-G,17,43104071,rs578250989,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51T>C,,c.441+51T>C,intron_variant,Likely benign,1107258,,34,1439172,0.000023624695310914886,0,0,eas,0.00009798999999999996,4.43,,0.00,0.00,-0.896,,,1,53910,0,0,0,45486,0,0,1,25928,0,0,8,40304,0,0,0,50978,0,0,0,5376,0,0,23,1077592,0,0,0,468,0,0,0,81418,0,0,1,57712,0,0 -17-43104071-A-ATT,17,43104071,rs1567809791,A,ATT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+50_441+51insAA,,c.441+50_441+51insAA,intron_variant,,,,1,1369244,7.30330021530129e-7,0,0,,,1.47,,0.00,0.00,-0.896,,,0,30164,0,0,1,38758,0,0,0,24556,0,0,0,38282,0,0,0,47526,0,0,0,5260,0,0,0,1047722,0,0,,,,,0,80150,0,0,0,56826,0,0 -17-43104072-AAAAAAAAAGAAAAG-A,17,43104072,rs373413425,AAAAAAAAAGAAAAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+36_441+49del,,c.441+36_441+49del,intron_variant,Benign,225705,,45460,148046,0.3070667225051673,7278,0,sas,0.48775813999999984,1.40,,0.00,-0.0100,0.220,,,9044,40736,986,0,4755,14796,774,0,1218,3422,201,0,1827,5054,336,0,3611,9526,699,0,96,284,14,0,21732,66640,3548,0,254,904,39,0,2254,4646,574,0,669,2038,107,0 -17-43104072-AAAAAAAAAGAAAAGAAGAAG-A,17,43104072,rs2054608255,AAAAAAAAAGAAAAGAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+30_441+49del,,c.441+30_441+49del,intron_variant,,,,9,1556962,0.000005780487898869722,0,0,amr,0.00000612,1.90,,0.00,0.0100,0.220,,,0,72166,0,0,2,54240,0,0,0,28638,0,0,0,44424,0,0,0,57924,0,0,0,5706,0,0,7,1148190,0,0,0,908,0,0,0,84444,0,0,0,60322,0,0 -17-43104072-AAAAAAAAAGAAAAGAAG-A,17,43104072,rs771382888,AAAAAAAAAGAAAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+49del,,c.441+33_441+49del,intron_variant,,,,97,1556278,0.00006232819586217887,0,0,eas,0.00008915999999999997,1.90,,0.00,0.00,0.220,,,2,72160,0,0,2,54226,0,0,0,28620,0,0,8,44404,0,0,2,57882,0,0,1,5702,0,0,70,1147670,0,0,0,908,0,0,7,84410,0,0,5,60296,0,0 -17-43104075-A-T,17,43104075,rs924685896,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+47T>A,,c.441+47T>A,intron_variant,,,,8,706246,0.000011327497784058246,0,0,amr,0.000054159999999999956,1.23,,0.00,0.00,0.219,,,1,43704,0,0,4,25048,0,0,0,11618,0,0,0,18772,0,0,0,22174,0,0,0,2378,0,0,0,532848,0,0,0,474,0,0,0,22222,0,0,3,27008,0,0 -17-43104075-A-G,17,43104075,rs924685896,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+47T>C,,c.441+47T>C,intron_variant,,,,3,633894,0.000004732652462399076,0,0,,,1.52,,0.00,0.00,0.219,,,0,19054,0,0,0,18104,0,0,0,10218,0,0,0,16694,0,0,0,18396,0,0,1,2248,0,0,1,502186,0,0,,,,,0,20918,0,0,1,26076,0,0 -17-43104076-AAAAAG-A,17,43104076,rs749649759,AAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+41_441+45del,,c.441+41_441+45del,intron_variant,,,,9,634014,0.000014195270135990688,0,0,sas,0.00006416999999999995,1.26,,0.00,0.00,0.215,,,0,19120,0,0,0,18318,0,0,0,10242,0,0,0,16694,0,0,0,18524,0,0,0,2242,0,0,5,501744,0,0,,,,,4,21054,0,0,0,26076,0,0 -17-43104077-A-G,17,43104077,rs751293910,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+45T>C,,c.441+45T>C,intron_variant,,,,11,706596,0.000015567594495298586,0,0,nfe,0.00000794,0.725,,0.00,0.00,-2.37,,,0,43726,0,0,0,25196,0,0,0,11628,0,0,0,18774,0,0,0,22346,0,0,0,2390,0,0,9,532794,0,0,0,474,0,0,0,22254,0,0,2,27014,0,0 -17-43104078-A-G,17,43104078,rs1359695398,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+44T>C,,c.441+44T>C,intron_variant,,,,2,646642,0.0000030929014818091,0,0,,,5.25,,0.00,0.00,0.0710,,,0,19176,0,0,0,18314,0,0,0,10322,0,0,0,16776,0,0,0,18632,0,0,0,2294,0,0,1,513348,0,0,,,,,0,21322,0,0,1,26458,0,0 -17-43104079-A-G,17,43104079,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+43T>C,,c.441+43T>C,intron_variant,,,,1,634762,0.0000015753936120939816,0,0,,,2.32,,0.00,0.00,0.0710,,,0,19152,0,0,0,18370,0,0,0,10242,0,0,0,16700,0,0,0,18714,0,0,0,2270,0,0,1,502164,0,0,,,,,0,21048,0,0,0,26102,0,0 -17-43104081-GAA-G,17,43104081,rs2154548295,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+39_441+40del,,c.441+39_441+40del,intron_variant,,,,2,622104,0.000003214896544629194,0,0,,,1.08,,0.00,0.00,-2.00,,,0,18640,0,0,0,17024,0,0,1,10050,0,0,0,16524,0,0,0,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,0,25642,0,0 -17-43104081-GAAAAGA-G,17,43104081,rs746156772,GAAAAGA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+35_441+40del,,c.441+35_441+40del,intron_variant,,,,11,622104,0.000017681930995460566,0,0,,,1.71,,0.00,-0.0100,-2.00,,,0,18640,0,0,0,17024,0,0,0,10050,0,0,0,16524,0,0,9,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,1,25642,0,0 -17-43104081-GAAAA-G,17,43104081,,GAAAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+37_441+40del,,c.441+37_441+40del,intron_variant,,,,1,622104,0.000001607448272314597,0,0,,,1.27,,0.00,-0.0100,-2.00,,,0,18640,0,0,0,17024,0,0,0,10050,0,0,0,16524,0,0,0,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,0,25642,0,0 -17-43104082-A-G,17,43104082,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+40T>C,,c.441+40T>C,intron_variant,,,,1,635654,0.0000015731828950970182,0,0,,,4.19,,0.00,0.00,0.0710,,,0,19302,0,0,0,18858,0,0,0,10288,0,0,0,16682,0,0,0,18964,0,0,0,2296,0,0,1,501888,0,0,,,,,0,21198,0,0,0,26178,0,0 -17-43104083-AAAGAAGAAG-A,17,43104083,rs147856441,AAAGAAGAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30_441+38del,,c.441+30_441+38del,intron_variant,,,,3,1052520,0.0000028503021320259948,0,0,nfe,9.000000000000001e-7,1.72,,0.00,-0.0100,0.0710,,,0,24564,0,0,0,19026,0,0,0,12856,0,0,0,18230,0,0,0,18792,0,0,0,3170,0,0,3,883272,0,0,,,,,0,32522,0,0,0,40088,0,0 -17-43104083-A-AAAGAAG,17,43104083,rs147856441,A,AAAGAAG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+38dup,,c.441+33_441+38dup,intron_variant,,,,57,1124664,0.000050681803632018094,0,0,amr,0.00005187999999999996,0.301,,0.00,0.0100,0.0710,,,0,49106,0,0,4,25942,0,0,0,14254,0,0,0,20300,0,0,0,22534,0,0,0,3300,0,0,49,913902,0,0,0,472,0,0,1,33838,0,0,3,41016,0,0 -17-43104083-AAAG-A,17,43104083,rs147856441,AAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+36_441+38del,,c.441+36_441+38del,intron_variant,Benign,225704,,2130,1115902,0.0019087697665207159,17,0,sas,0.01041171999999999,0.892,,0.00,0.00,0.0710,,,92,48854,0,0,45,25774,0,0,7,14122,0,0,34,20110,1,0,192,22230,3,0,19,3248,0,0,1225,906778,2,0,0,472,0,0,382,33656,9,0,134,40658,2,0 -17-43104083-A-AAAG,17,43104083,rs147856441,A,AAAG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+36_441+38dup,,c.441+36_441+38dup,intron_variant,Likely benign,1697607,,223,1124392,0.0001983294082490804,0,0,afr,0.0003873300000000001,0.321,,0.00,0.00,0.0710,,,27,49156,0,0,9,25944,0,0,0,14250,0,0,4,20294,0,0,1,22534,0,0,1,3288,0,0,165,913614,0,0,0,472,0,0,6,33840,0,0,10,41000,0,0 -17-43104083-A-AAAGAAGAAG,17,43104083,,A,AAAGAAGAAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30_441+38dup,,c.441+30_441+38dup,intron_variant,,,,1,1052520,9.501007106753316e-7,0,0,,,0.283,,0.00,0.00,0.0710,,,0,24564,0,0,0,19026,0,0,0,12856,0,0,0,18230,0,0,0,18792,0,0,0,3170,0,0,1,883272,0,0,,,,,0,32522,0,0,0,40088,0,0 -17-43104083-AAAGAAG-A,17,43104083,rs147856441,AAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+38del,,c.441+33_441+38del,intron_variant,,,,85,1124644,0.00007557947225966616,0,0,nfe,0.00006703,1.72,,0.00,-0.0100,0.0710,,,5,49106,0,0,1,25942,0,0,0,14254,0,0,1,20300,0,0,1,22534,0,0,0,3300,0,0,75,913880,0,0,0,472,0,0,1,33840,0,0,1,41016,0,0 -17-43104086-GAAGAA-G,17,43104086,rs776446166,GAAGAA,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+31_441+35del,,c.441+31_441+35del,intron_variant,,,,1,71068,0.000014071030562278382,0,0,,,1.83,,0.00,-0.0100,-3.83,,,1,24164,0,0,0,6792,0,0,0,1392,0,0,0,2046,0,0,0,3524,0,0,0,130,0,0,0,30366,0,0,0,470,0,0,0,1266,0,0,0,918,0,0 -17-43104087-A-T,17,43104087,rs757003198,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+35T>A,,c.441+35T>A,intron_variant,,,,1,1410700,7.088679379031686e-7,0,0,,,5.27,,0.00,0.00,0.0750,,,0,31910,0,0,0,40734,0,0,0,24956,0,0,0,38702,0,0,0,50320,0,0,0,5550,0,0,1,1080994,0,0,,,,,0,79128,0,0,0,58406,0,0 -17-43104091-AGAAG-A,17,43104091,rs761517096,AGAAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+27_441+30del,,c.441+27_441+30del,intron_variant,,,,2,151920,0.000013164823591363876,0,0,afr,0.00000798,0.878,,0.00,-0.0100,0.221,,,2,41512,0,0,0,15242,0,0,0,3470,0,0,0,5178,0,0,0,10474,0,0,0,294,0,0,0,67930,0,0,0,910,0,0,0,4802,0,0,0,2108,0,0 -17-43104092-G-C,17,43104092,rs781140529,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30C>G,,c.441+30C>G,intron_variant,,,,1,1434380,6.971653257853567e-7,0,0,,,0.108,,0.00,0.00,-0.726,,,0,32432,0,0,1,42034,0,0,0,25696,0,0,0,39460,0,0,0,51748,0,0,0,5622,0,0,0,1095478,0,0,,,,,0,82550,0,0,0,59360,0,0 -17-43104092-GAA-G,17,43104092,,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+28_441+29del,,c.441+28_441+29del,intron_variant,,,,1,1434380,6.971653257853567e-7,0,0,,,0.781,,0.00,-0.0100,-0.726,,,0,32432,0,0,0,42034,0,0,0,25696,0,0,0,39460,0,0,0,51748,0,0,0,5622,0,0,0,1095478,0,0,,,,,1,82550,0,0,0,59360,0,0 -17-43104092-GA-G,17,43104092,,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+29del,,c.441+29del,intron_variant,,,,2,1584904,0.0000012619060839016116,0,0,,,0.829,,0.00,0.00,-0.726,,,0,73480,0,0,0,57144,0,0,0,29152,0,0,0,44610,0,0,0,61814,0,0,0,5934,0,0,2,1163120,0,0,0,908,0,0,0,87310,0,0,0,61432,0,0 -17-43104094-A-C,17,43104094,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+28T>G,,c.441+28T>G,intron_variant,,,,1,1447378,6.909045183773693e-7,0,0,,,0.232,,0.00,0.00,0.221,,,1,32720,0,0,0,42640,0,0,0,25864,0,0,0,39608,0,0,0,52406,0,0,0,5686,0,0,0,1105202,0,0,,,,,0,83382,0,0,0,59870,0,0 -17-43104099-A-G,17,43104099,rs1325527955,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+23T>C,,c.441+23T>C,intron_variant,,,,2,829150,0.0000024121087861062536,0,0,afr,0.00002204,5.47,,0.00,0.00,-0.740,,,2,15696,0,0,0,980,0,0,0,5134,0,0,0,3614,0,0,0,276,0,0,0,1612,0,0,0,758304,0,0,,,,,0,16360,0,0,0,27174,0,0 -17-43104101-GAA-G,17,43104101,rs764884677,GAA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+19_441+20del,,c.441+19_441+20del,intron_variant,Likely benign,462648,,80,1599602,0.0000500124405945979,0,0,afr,0.0008146800000000001,1.36,,0.00,-0.0100,-0.935,,,74,74140,0,0,0,58942,0,0,0,29434,0,0,0,44694,0,0,0,62948,0,0,0,5998,0,0,2,1171260,0,0,0,906,0,0,0,89248,0,0,4,62032,0,0 -17-43104101-G-T,17,43104101,rs1403139927,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+21C>A,,c.441+21C>A,intron_variant,,,,1,1448854,6.902006689424883e-7,0,0,,,2.14,,0.00,0.00,-0.935,,,0,33020,0,0,0,43806,0,0,0,25980,0,0,0,39544,0,0,0,52640,0,0,0,5706,0,0,1,1103712,0,0,,,,,0,84510,0,0,0,59936,0,0 -17-43104104-G-GAAA,17,43104104,,G,GAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+15_441+17dup,,c.441+15_441+17dup,intron_variant,,,,1,1416362,7.060341918238416e-7,0,0,,,0.233,,0.00,0.00,-0.182,,,0,32572,0,0,0,43558,0,0,0,25594,0,0,0,39184,0,0,0,52222,0,0,0,5582,0,0,0,1075538,0,0,,,,,0,83470,0,0,1,58642,0,0 -17-43104104-G-A,17,43104104,rs371973519,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+18C>T,,c.441+18C>T,intron_variant,Benign/Likely benign,215873,,120,1561146,0.00007686660952915358,0,0,amr,0.00009299999999999998,0.191,,0.00,0.00,-0.182,,,3,72480,0,0,10,57910,0,0,0,28940,0,0,0,44048,0,0,1,61754,0,0,2,5864,0,0,94,1140740,0,0,0,886,0,0,2,87864,0,0,8,60660,0,0 -17-43104104-GA-G,17,43104104,rs730881449,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+17del,,c.441+17del,intron_variant,Benign/Likely benign,462647,,79,1561140,0.00005060404576143075,0,0,afr,0.0008209800000000001,0.0940,,0.00,0.00,-0.182,,,73,72470,0,0,0,57908,0,0,0,28940,0,0,0,44048,0,0,0,61754,0,0,0,5864,0,0,2,1140746,0,0,0,886,0,0,0,87864,0,0,4,60660,0,0 -17-43104108-A-G,17,43104108,rs750353662,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+14T>C,,c.441+14T>C,intron_variant,Likely benign,491079,,1,151840,0.000006585879873551107,0,0,,,6.46,,0.00,0.00,-0.249,,,0,41356,0,0,0,15234,0,0,0,3468,0,0,0,5190,0,0,0,10490,0,0,0,316,0,0,1,67970,0,0,0,910,0,0,0,4818,0,0,0,2088,0,0 -17-43104109-C-T,17,43104109,rs1057520408,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+13G>A,,c.441+13G>A,intron_variant,Benign/Likely benign,378919,,3,1447902,0.000002071963433989317,0,0,nfe,2.999999999999999e-7,0.196,,0.00,0.00,-0.270,,,0,32786,0,0,0,43910,0,0,0,25842,0,0,0,38894,0,0,0,52580,0,0,0,5696,0,0,2,1103686,0,0,,,,,0,84734,0,0,1,59774,0,0 -17-43104113-T-C,17,43104113,rs1555596273,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+9A>G,,c.441+9A>G,intron_variant,Conflicting interpretations of pathogenicity,496382,,1,1458302,6.857290190920674e-7,0,0,,,12.3,,0.0900,0.0100,0.312,,,0,33326,0,0,0,44466,0,0,0,26076,0,0,0,39618,0,0,0,53176,0,0,0,5754,0,0,1,1109974,0,0,,,,,0,85610,0,0,0,60302,0,0 -17-43104115-G-GT,17,43104115,rs1060504561,G,GT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+6dup,,c.441+6dup,splice_region_variant,Conflicting interpretations of pathogenicity,462649,,24,1611740,0.000014890739201111842,0,0,nfe,0.00001377,7.20,,0.00,0.0100,0.655,,,0,74752,0,0,0,59850,0,0,0,29584,0,0,0,44856,0,0,0,63680,0,0,0,6080,0,0,24,1178862,0,0,0,912,0,0,0,90738,0,0,0,62426,0,0 -17-43104115-G-A,17,43104115,rs2154548520,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+7C>T,,c.441+7C>T,splice_region_variant,Likely benign,1640523,,4,1459958,0.000002739804843700983,0,0,nfe,8.4e-7,7.86,,0.00,0.00,0.655,,,0,33420,0,0,0,44628,0,0,0,26112,0,0,0,39668,0,0,0,53202,0,0,0,5764,0,0,4,1110890,0,0,,,,,0,85930,0,0,0,60344,0,0 -17-43104117-T-C,17,43104117,rs200358748,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+5A>G,,c.441+5A>G,intron_variant,,,,3,1612452,0.0000018605204992148604,0,0,nfe,6.800000000000001e-7,8.09,,0.00,-0.0100,0.151,,,0,74888,0,0,0,59898,0,0,0,29596,0,0,0,44866,0,0,0,63792,0,0,0,6058,0,0,3,1179236,0,0,0,912,0,0,0,90738,0,0,0,62468,0,0 -17-43104122-C-G,17,43104122,rs748876625,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu147Phe,p.Leu147Phe,c.441G>C,missense_variant,Conflicting interpretations of pathogenicity,220023,,22,1612048,0.000013647236310581322,0,0,nfe,0.00001221,33.0,0.418,0.180,-0.770,8.77,0.00,0.804,0,74578,0,0,0,59856,0,0,0,29592,0,0,0,44850,0,0,0,63728,0,0,0,6078,0,0,22,1179212,0,0,0,908,0,0,0,90788,0,0,0,62458,0,0 -17-43104124-A-G,17,43104124,rs794727800,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu147Leu,p.Leu147Leu,c.439T>C,splice_region_variant,Likely benign,198200,,5,1461152,0.000003421957469175007,0,0,nfe,0.0000013199999999999999,14.5,,0.00,0.00,0.250,,,0,33454,0,0,0,44680,0,0,0,26132,0,0,0,39684,0,0,0,53336,0,0,0,5764,0,0,5,1111656,0,0,,,,,0,86072,0,0,0,60374,0,0 -17-43104126-G-A,17,43104126,rs1060502358,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser146Phe,p.Ser146Phe,c.437C>T,missense_variant,Uncertain significance,409358,,1,832878,0.0000012006560384594141,0,0,,,23.3,0.498,0.00,-0.0100,0.981,0.00,0.135,0,15778,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761692,0,0,,,,,0,16458,0,0,0,27290,0,0 -17-43104128-A-C,17,43104128,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro145Pro,p.Pro145Pro,c.435T>G,synonymous_variant,,,,5,832958,0.000006002703617709416,0,0,nfe,0.0000019200000000000003,9.70,,0.00,0.00,0.0750,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,5,761770,0,0,,,,,0,16458,0,0,0,27290,0,0 -17-43104130-G-T,17,43104130,rs2054618097,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro145Thr,p.Pro145Thr,c.433C>A,missense_variant,Uncertain significance,846046,,1,832934,0.0000012005753156912792,0,0,,,22.8,0.548,0.00,0.00,0.480,0.0200,0.681,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,761746,0,0,,,,,0,16458,0,0,1,27292,0,0 -17-43104131-AT-A,17,43104131,rs397509162,AT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn144IlefsTer19,p.Asn144IlefsTer19,c.431del,frameshift_variant,Pathogenic,55167,,1,151840,0.000006585879873551107,0,0,,,23.4,,0.00,-0.0100,0.385,,,0,41342,0,0,0,15246,0,0,0,3472,0,0,0,5194,0,0,0,10478,0,0,0,314,0,0,0,67980,0,0,0,910,0,0,1,4812,0,0,0,2092,0,0 -17-43104134-T-G,17,43104134,rs397507228,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Asp,p.Glu143Asp,c.429A>C,missense_variant,Uncertain significance,37582,,13,628492,0.00002068443194185447,0,0,nfe,9.5e-7,15.9,0.570,0.00,0.00,0.960,0.0700,0.0390,0,17686,0,0,0,43720,0,0,0,20982,0,0,0,36054,0,0,11,53104,0,0,0,4146,0,0,2,350038,0,0,,,,,0,69676,0,0,0,33086,0,0 -17-43104135-T-C,17,43104135,rs2054618893,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Gly,p.Glu143Gly,c.428A>G,missense_variant,Uncertain significance,1044896,,1,628510,0.0000015910645813113554,0,0,,,18.0,0.475,0.00,0.00,1.93,0.230,0.0810,0,17686,0,0,0,43714,0,0,0,20982,0,0,0,36058,0,0,0,53106,0,0,0,4148,0,0,0,350044,0,0,,,,,1,69686,0,0,0,33086,0,0 -17-43104136-C-A,17,43104136,rs80356991,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Ter,p.Glu143Ter,c.427G>T,stop_gained,Pathogenic,37581,,12,1461442,0.00000821106824629373,0,0,nfe,0.00000531,33.0,,0.0400,-0.0700,1.53,,,0,33466,0,0,0,44692,0,0,0,26130,0,0,0,39682,0,0,0,53370,0,0,0,5764,0,0,11,1111836,0,0,,,,,0,86120,0,0,1,60382,0,0 -17-43104136-C-T,17,43104136,rs80356991,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu143Lys,p.Glu143Lys,c.427G>A,missense_variant,Benign,37580,,108,1613230,0.00006694643665193432,0,0,eas,0.00013695,16.0,0.519,0.0100,-0.0200,1.53,0.100,0.00600,0,74812,0,0,1,59920,0,0,0,29600,0,0,11,44878,0,0,0,63846,0,0,0,6080,0,0,89,1179784,0,0,0,912,0,0,6,90930,0,0,1,62468,0,0 -17-43104136-C-G,17,43104136,rs80356991,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Gln,p.Glu143Gln,c.427G>C,missense_variant,Uncertain significance,232628,,2,1461442,0.0000013685113743822883,0,0,,,14.7,0.495,0.0100,-0.0200,1.53,0.0600,0.0100,0,33466,0,0,0,44692,0,0,0,26130,0,0,0,39682,0,0,0,53370,0,0,0,5764,0,0,1,1111836,0,0,,,,,1,86120,0,0,0,60382,0,0 -17-43104137-G-A,17,43104137,rs542687218,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro142Pro,p.Pro142Pro,c.426C>T,synonymous_variant,Likely benign,183916,,15,1613542,0.000009296318286105971,0,0,amr,0.00001328,2.16,,0.00,-0.0100,-0.507,,,1,74968,0,0,3,59970,0,0,0,29600,0,0,2,44866,0,0,0,63908,0,0,0,6058,0,0,3,1179832,0,0,0,912,0,0,2,90940,0,0,4,62488,0,0 -17-43104137-G-C,17,43104137,rs542687218,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro142Pro,p.Pro142Pro,c.426C>G,synonymous_variant,Likely benign,824740,,4,1461468,0.000002736974056222921,0,0,,,1.84,,0.00,0.00,-0.507,,,0,33460,0,0,0,44704,0,0,0,26130,0,0,0,39684,0,0,3,53382,0,0,0,5764,0,0,1,1111844,0,0,,,,,0,86122,0,0,0,60378,0,0 -17-43104138-G-T,17,43104138,rs55971303,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro142His,p.Pro142His,c.425C>A,missense_variant,Benign,41823,,91,1613662,0.00005639347025585283,0,0,amr,0.00015364,17.8,0.564,0.00,-0.0100,2.30,0.0500,0.850,0,74900,0,0,15,59966,0,0,0,29602,0,0,0,44888,0,0,0,63946,0,0,1,6082,0,0,64,1179892,0,0,0,912,0,0,1,91000,0,0,10,62474,0,0 -17-43104143-A-G,17,43104143,rs730881448,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser140Ser,p.Ser140Ser,c.420T>C,synonymous_variant,Likely benign,182085,,7,780642,0.000008966978461317735,0,0,amr,0.00005516999999999998,5.10,,0.00,0.00,0.0980,,,0,59094,0,0,7,58988,0,0,0,24456,0,0,0,41262,0,0,0,63664,0,0,0,4464,0,0,0,418072,0,0,0,912,0,0,0,74546,0,0,0,35184,0,0 -17-43104144-C-T,17,43104144,rs1064793055,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser140Asn,p.Ser140Asn,c.419G>A,missense_variant,Uncertain significance,418067,,3,628612,0.000004772419234758484,0,0,sas,0.00000476,0.751,0.552,0.00,0.00,-0.534,0.470,0.346,0,17688,0,0,0,43740,0,0,0,20984,0,0,1,36054,0,0,0,53112,0,0,0,4148,0,0,0,350062,0,0,,,,,2,69734,0,0,0,33090,0,0 -17-43104147-T-A,17,43104147,rs786202213,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln139Leu,p.Gln139Leu,c.416A>T,missense_variant,,,,1,1461760,6.84106830122592e-7,0,0,,,23.9,0.531,0.00,-0.0100,1.38,0.00,0.0180,0,33470,0,0,0,44724,0,0,0,26136,0,0,0,39688,0,0,0,53396,0,0,0,5766,0,0,1,1111956,0,0,,,,,0,86232,0,0,0,60392,0,0 -17-43104147-T-C,17,43104147,rs786202213,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln139Arg,p.Gln139Arg,c.416A>G,missense_variant,Uncertain significance,185488,,1,1461760,6.84106830122592e-7,0,0,,,23.3,0.530,0.00,0.00,1.38,0.00,0.00300,0,33470,0,0,0,44724,0,0,0,26136,0,0,0,39688,0,0,0,53396,0,0,0,5766,0,0,0,1111956,0,0,,,,,0,86232,0,0,1,60392,0,0 -17-43104149-T-C,17,43104149,rs1597896509,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138Leu,p.Leu138Leu,c.414A>G,synonymous_variant,Likely benign,760922,,1,1461748,6.841124461945561e-7,0,0,,,6.71,,0.00,0.00,-1.20,,,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39690,0,0,0,53396,0,0,0,5766,0,0,1,1111930,0,0,,,,,0,86242,0,0,0,60390,0,0 -17-43104150-A-G,17,43104150,rs200449040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138Pro,p.Leu138Pro,c.413T>C,missense_variant,Conflicting interpretations of pathogenicity,433690,,6,1461776,0.000004104596053020435,0,0,nfe,0.0000013199999999999999,14.1,0.556,0.00,-0.0100,0.0700,0.110,0.0870,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39690,0,0,0,53398,0,0,0,5766,0,0,5,1111954,0,0,,,,,1,86240,0,0,0,60390,0,0 -17-43104151-GA-G,17,43104151,rs886040205,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138TyrfsTer25,p.Leu138TyrfsTer25,c.411del,frameshift_variant,Pathogenic,266447,,1,833034,0.0000012004311948852028,0,0,,,24.5,,0.00,-0.0200,1.17,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761840,0,0,,,,,0,16460,0,0,0,27294,0,0 -17-43104152-A-G,17,43104152,rs1258746087,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu137Leu,p.Leu137Leu,c.411T>C,synonymous_variant,Likely benign,560855,,2,152150,0.000013144922773578704,0,0,,,11.1,,0.00,-0.0100,1.28,,,1,41434,0,0,0,15258,0,0,0,3472,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43104153-A-G,17,43104153,rs751078452,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu137Pro,p.Leu137Pro,c.410T>C,missense_variant,Uncertain significance,216666,,2,1461776,0.0000013681986843401451,0,0,nfe,2.999999999999999e-7,24.5,0.562,0.00,0.00,2.89,0.0500,0.454,0,33472,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53398,0,0,0,5766,0,0,2,1111958,0,0,,,,,0,86244,0,0,0,60390,0,0 -17-43104154-G-A,17,43104154,rs1350236972,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu137Phe,p.Leu137Phe,c.409C>T,missense_variant,Uncertain significance,1054022,,1,628706,0.000001590568564639116,0,0,,,17.9,0.486,0.00,-0.0100,1.27,0.190,0.289,0,17688,0,0,1,43740,0,0,0,20984,0,0,0,36056,0,0,0,53120,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69784,0,0,0,33092,0,0 -17-43104155-T-C,17,43104155,rs2054622929,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg136Arg,p.Arg136Arg,c.408A>G,synonymous_variant,Likely benign,2020746,,1,152074,0.000006575746018385786,0,0,,,11.3,,0.00,-0.0100,0.453,,,0,41410,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10598,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 -17-43104156-C-T,17,43104156,rs1437476481,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg136Lys,p.Arg136Lys,c.407G>A,missense_variant,Uncertain significance,1051488,,2,1461784,0.0000013681911965105651,0,0,,,14.9,0.566,0.00,-0.0100,0.364,0.410,0.0910,0,33474,0,0,0,44722,0,0,0,26136,0,0,0,39686,0,0,0,53400,0,0,1,5766,0,0,1,1111964,0,0,,,,,0,86246,0,0,0,60390,0,0 -17-43104156-C-A,17,43104156,rs1437476481,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg136Ile,p.Arg136Ile,c.407G>T,missense_variant,,,,1,152020,0.000006578081831337982,0,0,,,23.3,0.629,0.00,0.0100,0.364,,,0,41392,0,0,0,15248,0,0,0,3472,0,0,0,5200,0,0,0,10552,0,0,0,316,0,0,1,68012,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 -17-43104159-T-TTGG,17,43104159,rs1555596338,T,TTGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala134_Lys135insThr,p.Ala134_Lys135insThr,c.401_403dup,inframe_insertion,Uncertain significance,548912,,1,628734,0.0000015904977303597388,0,0,,,16.0,,0.00,0.00,0.126,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69786,0,0,0,33094,0,0 -17-43104165-C-T,17,43104165,rs80357357,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg133His,p.Arg133His,c.398G>A,missense_variant,Conflicting interpretations of pathogenicity,37557,,18,1613848,0.000011153466745319262,0,0,afr,0.000025500000000000003,25.9,0.699,0.00,-0.0100,7.09,0.00,0.818,5,74880,0,0,0,59984,0,0,0,29602,0,0,2,44894,0,0,1,63976,0,0,0,6082,0,0,8,1179970,0,0,0,912,0,0,1,91068,0,0,1,62480,0,0 -17-43104166-G-T,17,43104166,rs80357457,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg133Ser,p.Arg133Ser,c.397C>A,missense_variant,Likely benign,91619,,1,1461760,6.84106830122592e-7,0,0,,,25.3,0.701,0.00,-0.0100,5.85,0.00,0.694,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111946,0,0,,,,,1,86238,0,0,0,60388,0,0 -17-43104166-G-A,17,43104166,rs80357457,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg133Cys,p.Arg133Cys,c.397C>T,missense_variant,Benign,55067,,12,1613810,0.00000743581958223087,0,0,nfe,0.00000292,27.1,0.735,0.00,-0.0100,5.85,0.00,0.925,0,74878,0,0,0,59990,0,0,0,29604,0,0,0,44882,0,0,0,63966,0,0,0,6082,0,0,8,1179964,0,0,0,912,0,0,1,91050,0,0,3,62482,0,0 -17-43104167-G-A,17,43104167,rs80357413,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn132Asn,p.Asn132Asn,c.396C>T,synonymous_variant,,,,1,1461784,6.840955982552826e-7,0,0,,,6.49,,0.00,0.00,0.338,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39690,0,0,0,53400,0,0,0,5766,0,0,1,1111960,0,0,,,,,0,86246,0,0,0,60388,0,0 -17-43104167-G-T,17,43104167,rs80357413,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn132Lys,p.Asn132Lys,c.396C>A,missense_variant,Benign,55064,,60,1613926,0.00003717642568494466,0,0,nfe,0.00003856,17.6,0.661,0.00,0.00,0.338,0.00,0.230,1,74908,0,0,0,59990,0,0,0,29606,0,0,0,44890,0,0,0,64002,0,0,0,6082,0,0,58,1179978,0,0,0,912,0,0,0,91078,0,0,1,62480,0,0 -17-43104171-C-G,17,43104171,rs2154549164,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg131Thr,p.Arg131Thr,c.392G>C,missense_variant,,,,1,833056,0.0000012003994929512542,0,0,,,25.2,0.717,0.00,0.00,7.09,0.00,0.444,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761856,0,0,,,,,0,16458,0,0,0,27298,0,0 -17-43104173-G-A,17,43104173,rs80356888,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr130Tyr,p.Tyr130Tyr,c.390C>T,synonymous_variant,Likely benign,427269,,1,152246,0.0000065683170658014006,0,0,,,7.49,,0.00,-0.0100,2.30,,,0,41538,0,0,0,15290,0,0,0,3468,0,0,0,5182,0,0,0,10608,0,0,0,294,0,0,1,68016,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 -17-43104173-G-T,17,43104173,rs80356888,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr130Ter,p.Tyr130Ter,c.390C>A,stop_gained,Pathogenic,55046,,1,628724,0.0000015905230275923935,0,0,,,33.0,,0.00,-0.0400,2.30,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36058,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69788,0,0,0,33094,0,0 -17-43104175-A-T,17,43104175,rs1204011551,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr130Asn,p.Tyr130Asn,c.388T>A,missense_variant,,,,1,152190,0.000006570733950982325,0,0,,,26.5,0.711,0.00,0.00,6.30,,,0,41454,0,0,0,15262,0,0,0,3472,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43104177-C-A,17,43104177,rs764231119,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly129Val,p.Gly129Val,c.386G>T,missense_variant,Uncertain significance,481476,,1,628742,0.0000015904774931529943,0,0,,,24.8,0.738,0.00,0.00,7.06,0.00,0.468,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43104178-C-T,17,43104178,rs1555596362,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly129Ser,p.Gly129Ser,c.385G>A,missense_variant,Uncertain significance,462624,,1,628738,0.0000015904876116919926,0,0,,,25.2,0.682,0.00,0.00,8.86,0.00,0.145,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69792,0,0,0,33094,0,0 -17-43104181-T-C,17,43104181,rs864622124,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met128Val,p.Met128Val,c.382A>G,missense_variant,Uncertain significance,219502,,1,833024,0.0000012004456054087276,0,0,,,15.6,0.576,0.00,0.00,-0.380,0.260,0.0310,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,761834,0,0,,,,,0,16456,0,0,0,27296,0,0 -17-43104183-C-G,17,43104183,rs80357189,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser127Thr,p.Ser127Thr,c.380G>C,missense_variant,,,,2,628736,0.000003180985342019544,0,0,nfe,9.5e-7,24.5,0.666,0.00,0.00,5.03,0.00,0.549,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43104183-C-A,17,43104183,rs80357189,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser127Ile,p.Ser127Ile,c.380G>T,missense_variant,Uncertain significance,142655,,1,628736,0.000001590492671009772,0,0,,,25.4,0.781,0.00,0.00,5.03,0.00,0.0410,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 -17-43104183-C-T,17,43104183,rs80357189,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser127Asn,p.Ser127Asn,c.380G>A,missense_variant,Uncertain significance,55012,,11,780842,0.000014087356981309919,0,0,sas,0.00003482999999999999,24.7,0.528,0.00,0.00,5.03,0.00,0.630,0,59120,0,0,0,59000,0,0,0,24454,0,0,0,41260,0,0,0,63708,0,0,0,4464,0,0,5,418120,0,0,0,912,0,0,6,74620,0,0,0,35184,0,0 -17-43104185-T-C,17,43104185,rs786201256,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln126Gln,p.Gln126Gln,c.378A>G,synonymous_variant,Likely benign,184064,,28,1613972,0.000017348504187185404,0,0,nfe,0.00001645,10.2,,0.00,0.00,-0.773,,,0,74942,0,0,0,59990,0,0,0,29606,0,0,0,44890,0,0,0,64028,0,0,0,6084,0,0,28,1179958,0,0,0,912,0,0,0,91076,0,0,0,62486,0,0 -17-43104186-T-C,17,43104186,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln126Arg,p.Gln126Arg,c.377A>G,missense_variant,Uncertain significance,1734826,,1,628744,0.0000015904724339317751,0,0,,,25.2,0.657,0.00,0.00,4.71,0.00,0.527,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43104187-GGAT-G,17,43104187,rs2054629278,GGAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile125del,p.Ile125del,c.373_375del,inframe_deletion,Uncertain significance,1019499,,2,1461698,0.0000013682716949739275,0,0,,,18.6,,0.00,0.00,4.05,,,1,33478,0,0,0,44722,0,0,0,26134,0,0,1,39682,0,0,0,53398,0,0,0,5768,0,0,0,1111874,0,0,,,,,0,86250,0,0,0,60392,0,0 -17-43104188-G-A,17,43104188,rs1311672121,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile125Ile,p.Ile125Ile,c.375C>T,synonymous_variant,Likely benign,629047,,2,1613898,0.0000012392356889964546,0,0,,,8.72,,0.00,0.00,0.953,,,0,74912,0,0,0,59990,0,0,0,29604,0,0,0,44886,0,0,0,64002,0,0,0,6084,0,0,2,1179946,0,0,0,910,0,0,0,91082,0,0,0,62482,0,0 -17-43104190-T-C,17,43104190,rs587776489,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile125Val,p.Ile125Val,c.373A>G,missense_variant,Uncertain significance,156193,,2,780968,0.0000025609243912682723,0,0,,,22.6,0.574,0.00,0.00,2.97,0.0300,0.0270,1,59158,0,0,0,59030,0,0,0,24454,0,0,0,41260,0,0,0,63744,0,0,0,4464,0,0,1,418136,0,0,0,912,0,0,0,74622,0,0,0,35188,0,0 -17-43104191-G-A,17,43104191,rs273900715,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile124Ile,p.Ile124Ile,c.372C>T,synonymous_variant,Likely benign,1692965,,1,152184,0.000006570993008463439,0,0,,,12.4,,0.00,0.00,0.425,,,1,41458,0,0,0,15274,0,0,0,3472,0,0,0,5204,0,0,0,10610,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 -17-43104193-T-C,17,43104193,rs80357448,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile124Val,p.Ile124Val,c.370A>G,missense_variant,Benign,54971,,6,780968,0.000007682773173804816,0,0,eas,0.00003259,16.9,0.552,0.00,0.00,-0.0500,0.220,0.344,0,59160,0,0,0,59016,0,0,0,24454,0,0,4,41266,0,0,0,63754,0,0,0,4464,0,0,2,418130,0,0,0,912,0,0,0,74630,0,0,0,35182,0,0 -17-43104194-A-T,17,43104194,rs774583925,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser123Ser,p.Ser123Ser,c.369T>A,synonymous_variant,Likely benign,427329,,7,628736,0.000011133448697068404,1,0,amr,0.00007425999999999998,10.8,,0.00,0.00,0.518,,,0,17694,0,0,7,43740,1,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43104195-G-A,17,43104195,rs1220408343,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser123Phe,p.Ser123Phe,c.368C>T,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,26.8,0.707,0.00,0.00,8.74,0.00,0.862,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 -17-43104197-A-C,17,43104197,rs190900046,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val122Val,p.Val122Val,c.366T>G,synonymous_variant,Likely benign,185214,,11,781030,0.000014083966044838226,0,0,amr,0.00006707999999999997,9.07,,0.00,0.00,0.265,,,0,59270,0,0,8,59034,0,0,0,24450,0,0,0,41252,0,0,0,63744,0,0,0,4442,0,0,0,418102,0,0,0,912,0,0,0,74616,0,0,3,35208,0,0 -17-43104200-T-C,17,43104200,rs1060504552,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu121Glu,p.Glu121Glu,c.363A>G,synonymous_variant,Likely benign,415545,,2,628734,0.0000031809954607194776,0,0,nfe,9.5e-7,6.89,,0.00,0.0100,0.244,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53130,0,0,0,4148,0,0,2,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 -17-43104203-A-G,17,43104203,rs2154549551,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp120Asp,p.Asp120Asp,c.360T>C,synonymous_variant,,,,1,832546,0.0000012011348321894526,0,0,,,8.57,,0.00,0.00,-0.611,,,0,15770,0,0,0,980,0,0,0,5152,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,1,761402,0,0,,,,,0,16446,0,0,0,27276,0,0 -17-43104204-T-C,17,43104204,rs587781491,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp120Gly,p.Asp120Gly,c.359A>G,missense_variant,Uncertain significance,141096,,2,628736,0.000003180985342019544,0,0,nfe,9.5e-7,24.8,0.565,0.130,0.150,4.68,0.00,0.0280,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36054,0,0,0,53132,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 -17-43104205-C-A,17,43104205,rs587782882,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp120Tyr,p.Asp120Tyr,c.358G>T,missense_variant,,,,1,152108,0.000006574276172193441,0,0,,,25.4,0.539,0.00,-0.0100,5.87,0.00,0.171,0,41428,0,0,0,15250,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,314,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2092,0,0 -17-43104209-T-C,17,43104209,rs1320340280,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu118Leu,p.Leu118Leu,c.354A>G,synonymous_variant,Likely benign,462613,,3,152208,0.000019709870703248187,0,0,afr,0.000008,7.24,,0.00,0.00,0.165,,,2,41454,0,0,0,15274,0,0,0,3468,0,0,1,5206,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,910,0,0,0,4828,0,0,0,2092,0,0 -17-43104211-G-C,17,43104211,rs876659315,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu118Val,p.Leu118Val,c.352C>G,missense_variant,Uncertain significance,231713,,3,1460932,0.0000020534836665909158,0,0,nfe,7.200000000000001e-7,8.04,0.602,0.00,0.00,0.514,0.280,0.00,0,33460,0,0,0,44716,0,0,0,26126,0,0,0,39674,0,0,0,53402,0,0,0,5768,0,0,3,1111190,0,0,,,,,0,86234,0,0,0,60362,0,0 -17-43104212-A-T,17,43104212,rs2154549630,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His117Gln,p.His117Gln,c.351T>A,missense_variant,Uncertain significance,1697608,,1,832280,0.0000012015187196616523,0,0,,,6.95,0.634,0.00,0.00,-0.113,0.390,0.0790,0,15766,0,0,0,982,0,0,0,5148,0,0,0,3620,0,0,0,276,0,0,0,1620,0,0,0,761156,0,0,,,,,1,16446,0,0,0,27266,0,0 -17-43104213-T-A,17,43104213,rs2054632888,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His117Leu,p.His117Leu,c.350A>T,missense_variant,Conflicting interpretations of pathogenicity,859031,,3,628678,0.0000047719182156843405,0,0,sas,0.00000476,4.65,0.545,0.00,0.00,-0.772,0.340,0.00300,0,17692,0,0,0,43736,0,0,0,20978,0,0,0,36048,0,0,0,53130,0,0,0,4148,0,0,0,350084,0,0,,,,,2,69768,0,0,1,33094,0,0 -17-43104215-T-C,17,43104215,rs1453794570,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu116Glu,p.Glu116Glu,c.348A>G,synonymous_variant,Likely benign,2091648,,3,152202,0.000019710647691883155,0,0,afr,0.00001919,7.34,,0.00,0.00,0.530,,,3,41454,0,0,0,15268,0,0,0,3470,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,908,0,0,0,4828,0,0,0,2090,0,0 -17-43104216-TC-T,17,43104216,rs762635795,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu116AsnfsTer3,p.Glu116AsnfsTer3,c.346del,frameshift_variant,Pathogenic,252400,,1,628678,0.0000015906394052281136,0,0,,,28.9,,0.00,-0.0600,6.33,,,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36048,0,0,0,53128,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69766,0,0,0,33092,0,0 -17-43104220-G-T,17,43104220,rs1468589409,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro115Thr,p.Pro115Thr,c.343C>A,missense_variant,Uncertain significance,462611,,1,628642,0.0000015907304952580323,0,0,,,20.8,0.588,0.00,0.00,2.53,0.0400,0.392,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36044,0,0,0,53110,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69758,0,0,0,33092,0,0 -17-43104222-G-A,17,43104222,rs786202620,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser114Phe,p.Ser114Phe,c.341C>T,missense_variant,Uncertain significance,958403,,1,628612,0.0000015908064115861614,0,0,,,25.9,0.653,0.00,0.00,4.67,0.00,0.804,0,17694,0,0,0,43730,0,0,0,20980,0,0,1,36044,0,0,0,53120,0,0,0,4146,0,0,0,350072,0,0,,,,,0,69734,0,0,0,33092,0,0 -17-43104222-G-C,17,43104222,rs786202620,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser114Cys,p.Ser114Cys,c.341C>G,missense_variant,Uncertain significance,185998,,1,628612,0.0000015908064115861614,0,0,,,25.3,0.633,0.00,0.00,4.67,0.00,0.846,0,17694,0,0,1,43730,0,0,0,20980,0,0,0,36044,0,0,0,53120,0,0,0,4146,0,0,0,350072,0,0,,,,,0,69734,0,0,0,33092,0,0 -17-43104224-G-A,17,43104224,rs587779367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Asn,p.Asn113Asn,c.339C>T,synonymous_variant,Likely benign,427299,,1,1460426,6.847317152666414e-7,0,0,,,7.87,,0.00,0.00,-0.209,,,0,33448,0,0,0,44704,0,0,0,26130,0,0,0,39666,0,0,0,53384,0,0,0,5762,0,0,1,1110840,0,0,,,,,0,86140,0,0,0,60352,0,0 -17-43104225-T-G,17,43104225,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Thr,p.Asn113Thr,c.338A>C,missense_variant,,,,1,628574,0.0000015909025826712528,0,0,,,18.0,0.568,0.00,0.00,0.739,0.0600,0.0330,1,17690,0,0,0,43720,0,0,0,20980,0,0,0,36046,0,0,0,53114,0,0,0,4146,0,0,0,350062,0,0,,,,,0,69724,0,0,0,33092,0,0 -17-43104225-T-C,17,43104225,rs587780800,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Ser,p.Asn113Ser,c.338A>G,missense_variant,Uncertain significance,136084,,2,628574,0.0000031818051653425056,0,0,sas,0.00000476,15.7,0.386,0.00,0.00,0.739,0.250,0.00500,0,17690,0,0,0,43720,0,0,0,20980,0,0,0,36046,0,0,0,53114,0,0,0,4146,0,0,0,350062,0,0,,,,,2,69724,0,0,0,33092,0,0 -17-43104229-T-C,17,43104229,rs587782017,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn112Asp,p.Asn112Asp,c.334A>G,missense_variant,Uncertain significance,141794,,3,832162,0.000003605067282572384,0,0,nfe,4.4e-7,21.7,0.447,0.00,0.00,2.92,0.0800,0.00300,0,15760,0,0,0,982,0,0,0,5148,0,0,0,3622,0,0,0,276,0,0,0,1620,0,0,2,761046,0,0,,,,,0,16438,0,0,1,27270,0,0 -17-43104231-T-G,17,43104231,rs80357312,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Ala,p.Glu111Ala,c.332A>C,missense_variant,Uncertain significance,54844,,4,1460436,0.0000027389081068941057,0,0,nfe,8.4e-7,24.0,0.608,0.00,0.00,0.291,0.0100,0.217,0,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,4,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 -17-43104231-T-A,17,43104231,rs80357312,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Val,p.Glu111Val,c.332A>T,missense_variant,Uncertain significance,496365,,1,1460436,6.847270267235264e-7,0,0,,,29.8,0.615,0.130,0.130,0.291,0.00,0.527,1,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,0,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 -17-43104231-T-C,17,43104231,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Gly,p.Glu111Gly,c.332A>G,missense_variant,,,,2,1460436,0.0000013694540534470528,0,0,nfe,2.999999999999999e-7,22.9,0.554,0.00,0.00,0.291,0.0300,0.217,0,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,2,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 -17-43104232-C-G,17,43104232,rs1414264431,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Gln,p.Glu111Gln,c.331G>C,missense_variant,,,,1,628498,0.0000015910949597293866,0,0,,,15.4,0.574,0.00,0.00,1.10,0.190,0.366,0,17694,0,0,0,43700,0,0,0,20978,0,0,0,36046,0,0,0,53100,0,0,0,4146,0,0,0,350038,0,0,,,,,1,69706,0,0,0,33090,0,0 -17-43104233-C-T,17,43104233,rs878854947,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys110Lys,p.Lys110Lys,c.330G>A,synonymous_variant,Likely benign,240791,,1,151936,0.000006581718618365627,0,0,,,9.64,,0.00,0.00,1.57,,,1,41370,0,0,0,15226,0,0,0,3470,0,0,0,5202,0,0,0,10552,0,0,0,316,0,0,0,67990,0,0,0,912,0,0,0,4826,0,0,0,2072,0,0 -17-43104237-T-C,17,43104237,rs750275408,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys109Arg,p.Lys109Arg,c.326A>G,missense_variant,,,,1,628476,0.0000015911506565087609,0,0,,,24.4,0.585,0.00,0.00,3.70,0.0300,0.00500,0,17692,0,0,0,43722,0,0,0,20976,0,0,0,36046,0,0,0,53100,0,0,0,4146,0,0,0,350028,0,0,,,,,1,69680,0,0,0,33086,0,0 -17-43104241-C-T,17,43104241,rs2154549989,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala108Thr,p.Ala108Thr,c.322G>A,missense_variant,Uncertain significance,1729175,,1,628234,0.0000015917635785392067,0,0,,,23.0,0.510,0.00,0.00,1.47,0.0200,0.0570,0,17670,0,0,1,43662,0,0,0,20974,0,0,0,36040,0,0,0,53066,0,0,0,4140,0,0,0,349968,0,0,,,,,0,69634,0,0,0,33080,0,0 -17-43104244-A-T,17,43104244,rs878854944,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe107Ile,p.Phe107Ile,c.319T>A,missense_variant,Uncertain significance,240788,,1,628256,0.0000015917078388427647,0,0,,,25.1,0.631,0.00,0.00,3.65,0.0400,0.630,0,17682,0,0,0,43690,0,0,0,20976,0,0,0,36040,0,0,0,53074,0,0,0,4142,0,0,1,349982,0,0,,,,,0,69592,0,0,0,33078,0,0 -17-43104248-A-G,17,43104248,rs2054639807,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr105Tyr,p.Tyr105Tyr,c.315T>C,synonymous_variant,Likely benign,921198,,1,1458418,6.856744774131971e-7,0,0,,,1.19,,0.00,0.00,-3.63,,,0,33402,0,0,0,44682,0,0,0,26118,0,0,0,39648,0,0,0,53324,0,0,0,5760,0,0,0,1109168,0,0,,,,,0,86026,0,0,1,60290,0,0 -17-43104248-A-T,17,43104248,rs2054639807,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr105Ter,p.Tyr105Ter,c.315T>A,stop_gained,,,,1,1458418,6.856744774131971e-7,0,0,,,24.5,,0.00,-0.0300,-3.63,,,0,33402,0,0,0,44682,0,0,0,26118,0,0,0,39648,0,0,0,53324,0,0,0,5760,0,0,0,1109168,0,0,,,,,1,86026,0,0,0,60290,0,0 -17-43104249-T-C,17,43104249,rs28897673,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr105Cys,p.Tyr105Cys,c.314A>G,missense_variant,Benign,54780,,291,1610448,0.00018069506125003725,1,0,nfe,0.00021089,25.4,0.632,0.00,0.00,1.34,0.0600,0.196,0,74864,0,0,6,59968,0,0,0,29588,0,0,0,44856,0,0,0,63932,0,0,3,6076,1,0,275,1177008,0,0,0,912,0,0,0,90854,0,0,7,62390,0,0 -17-43104251-G-T,17,43104251,rs766484283,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser104Arg,p.Ser104Arg,c.312C>A,missense_variant,Uncertain significance,433689,,1,628232,0.000001591768645977919,0,0,,,23.9,0.588,0.00,0.00,1.14,0.0100,0.416,0,17684,0,0,0,43710,0,0,0,20978,0,0,0,36032,0,0,0,53008,0,0,0,4140,0,0,1,349982,0,0,,,,,0,69614,0,0,0,33084,0,0 -17-43104253-T-C,17,43104253,rs753342801,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser104Gly,p.Ser104Gly,c.310A>G,missense_variant,,,,2,1609382,0.0000012427130414034703,0,0,,,19.2,0.538,0.00,0.00,2.98,0.150,0.0950,1,74816,0,0,0,59928,0,0,0,29584,0,0,0,44848,0,0,0,63896,0,0,0,6074,0,0,1,1176198,0,0,0,912,0,0,0,90790,0,0,0,62336,0,0 -17-43104253-T-G,17,43104253,rs753342801,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser104Arg,p.Ser104Arg,c.310A>C,missense_variant,Uncertain significance,849557,,1,1457226,6.862353540219568e-7,0,0,,,24.3,0.600,0.00,0.00,2.98,0.0100,0.416,0,33378,0,0,1,44666,0,0,0,26114,0,0,0,39646,0,0,0,53290,0,0,0,5758,0,0,0,1108166,0,0,,,,,0,85960,0,0,0,60248,0,0 -17-43104254-G-C,17,43104254,rs876659814,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn103Lys,p.Asn103Lys,c.309C>G,missense_variant,,,,1,1456954,6.863634678926034e-7,0,0,,,23.0,0.579,0.00,0.00,0.424,0.00,0.0530,0,33376,0,0,0,44650,0,0,0,26114,0,0,0,39644,0,0,0,53272,0,0,0,5756,0,0,1,1107972,0,0,,,,,0,85940,0,0,0,60230,0,0 -17-43104254-G-A,17,43104254,rs876659814,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn103Asn,p.Asn103Asn,c.309C>T,synonymous_variant,Likely benign,232515,,1,1456954,6.863634678926034e-7,0,0,,,12.4,,0.00,-0.0100,0.424,,,0,33376,0,0,0,44650,0,0,0,26114,0,0,0,39644,0,0,0,53272,0,0,0,5756,0,0,1,1107972,0,0,,,,,0,85940,0,0,0,60230,0,0 -17-43104257-T-G,17,43104257,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Ala,p.Ala102Ala,c.306A>C,synonymous_variant,,,,1,829362,0.000001205746103631466,0,0,,,13.2,,0.00,0.00,2.38,,,0,15698,0,0,0,976,0,0,0,5134,0,0,0,3612,0,0,0,276,0,0,0,1618,0,0,1,758504,0,0,,,,,0,16370,0,0,0,27174,0,0 -17-43104258-G-A,17,43104258,rs80357190,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Val,p.Ala102Val,c.305C>T,missense_variant,Uncertain significance,1799342,,1,1457078,6.863050571074438e-7,0,0,,,20.6,0.618,0.00,0.00,4.04,0.290,0.109,1,33372,0,0,0,44642,0,0,0,26112,0,0,0,39636,0,0,0,53254,0,0,0,5756,0,0,0,1108120,0,0,,,,,0,85932,0,0,0,60254,0,0 -17-43104258-G-C,17,43104258,rs80357190,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Gly,p.Ala102Gly,c.305C>G,missense_variant,Benign,37505,,4,1457078,0.0000027452202284297753,0,0,,,23.5,0.606,0.00,0.00,4.04,0.0700,0.0230,1,33372,0,0,0,44642,0,0,0,26112,0,0,0,39636,0,0,0,53254,0,0,0,5756,0,0,0,1108120,0,0,,,,,0,85932,0,0,3,60254,0,0 -17-43104260-A-G,17,43104260,rs80356936,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr101Tyr,p.Tyr101Tyr,c.303T>C,splice_region_variant,Likely benign,427330,,2,981102,0.000002038524027063445,0,0,,,16.3,,0.00,0.00,3.69,,,1,57156,0,0,1,16256,0,0,0,8610,0,0,0,8812,0,0,0,10894,0,0,0,1932,0,0,0,826082,0,0,0,912,0,0,0,21188,0,0,0,29260,0,0 -17-43104261-T-C,17,43104261,rs587781798,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr101Cys,p.Tyr101Cys,c.302A>G,missense_variant,Uncertain significance,141504,,3,780262,0.000003844862366743478,0,0,nfe,0.0000019100000000000003,22.0,0.563,0.00,-0.0100,2.88,0.0400,0.112,0,59132,0,0,0,58952,0,0,0,24444,0,0,0,41228,0,0,0,63588,0,0,0,4452,0,0,3,417980,0,0,0,910,0,0,0,74416,0,0,0,35160,0,0 -17-43104262-CT-C,17,43104262,rs273899695,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-2del,,c.302-2del,splice_acceptor_variant,Pathogenic,54753,,4,779998,0.000005128218277482763,0,0,,,33.0,,1.00,-0.900,7.04,,,0,59062,0,0,0,58912,0,0,0,24448,0,0,0,41214,0,0,0,63520,0,0,0,4452,0,0,2,417952,0,0,0,912,0,0,0,74376,0,0,2,35150,0,0 -17-43104262-C-T,17,43104262,rs80358116,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-1G>A,,c.302-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,54750,,1,627964,0.0000015924479747246656,0,0,,,34.0,,1.00,-0.900,7.04,,,1,17672,0,0,0,43662,0,0,0,20976,0,0,0,36016,0,0,0,52948,0,0,0,4136,0,0,0,349944,0,0,,,,,0,69544,0,0,0,33066,0,0 -17-43104264-G-A,17,43104264,rs80358051,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-3C>T,,c.302-3C>T,splice_region_variant,Conflicting interpretations of pathogenicity,1022202,,3,828438,0.0000036212728049654892,0,0,nfe,4.4e-7,9.74,,0.00,0.0100,0.868,,,1,15678,0,0,0,976,0,0,0,5134,0,0,0,3604,0,0,0,276,0,0,0,1616,0,0,2,757652,0,0,,,,,0,16354,0,0,0,27148,0,0 -17-43104266-A-G,17,43104266,rs778668665,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-5T>C,,c.302-5T>C,splice_region_variant,Conflicting interpretations of pathogenicity,230861,,2,1608662,0.0000012432692510919011,0,0,,,11.8,,0.00,-0.0100,1.20,,,0,74800,0,0,0,59904,0,0,0,29576,0,0,0,44826,0,0,0,63832,0,0,1,6066,0,0,1,1175686,0,0,0,912,0,0,0,90734,0,0,0,62326,0,0 -17-43104266-A-T,17,43104266,rs778668665,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-5T>A,,c.302-5T>A,splice_region_variant,Conflicting interpretations of pathogenicity,462599,,19,1608662,0.000011811057885373062,0,0,sas,0.00012763,15.1,,0.00,0.0100,1.20,,,0,74800,0,0,0,59904,0,0,0,29576,0,0,0,44826,0,0,0,63832,0,0,0,6066,0,0,0,1175686,0,0,0,912,0,0,18,90734,0,0,1,62326,0,0 -17-43104269-A-G,17,43104269,rs878854942,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-8T>C,,c.302-8T>C,splice_region_variant,Conflicting interpretations of pathogenicity,531505,,1,627722,0.0000015930618968269393,0,0,,,9.97,,0.00,0.0100,2.19,,,0,17664,0,0,0,43644,0,0,0,20968,0,0,0,36024,0,0,0,52914,0,0,0,4114,0,0,0,349898,0,0,,,,,0,69430,0,0,1,33066,0,0 -17-43104270-T-C,17,43104270,rs1389128798,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-9A>G,,c.302-9A>G,intron_variant,Conflicting interpretations of pathogenicity,531486,,2,980388,0.0000020400086496366743,0,0,,,7.98,,0.00,0.00,0.735,,,2,57082,0,0,0,16222,0,0,0,8602,0,0,0,8804,0,0,0,10846,0,0,0,1932,0,0,0,825570,0,0,0,912,0,0,0,21176,0,0,0,29242,0,0 -17-43104271-A-T,17,43104271,rs747733248,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-10T>A,,c.302-10T>A,intron_variant,Likely benign,462598,,19,1607654,0.000011818463425587844,0,0,sas,0.0001279,5.95,,0.00,0.0100,2.20,,,0,74758,0,0,0,59842,0,0,0,29568,0,0,0,44828,0,0,0,63774,0,0,0,6028,0,0,0,1175122,0,0,0,912,0,0,18,90538,0,0,1,62284,0,0 -17-43104271-A-G,17,43104271,rs747733248,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-10T>C,,c.302-10T>C,intron_variant,Likely benign,386408,,1,1455460,6.87068005991233e-7,0,0,,,6.30,,0.00,0.0100,2.20,,,0,33302,0,0,0,44564,0,0,0,26096,0,0,0,39624,0,0,0,53168,0,0,0,5712,0,0,1,1107092,0,0,,,,,0,85708,0,0,0,60194,0,0 -17-43104272-C-T,17,43104272,rs1057521776,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-11G>A,,c.302-11G>A,intron_variant,Conflicting interpretations of pathogenicity,383900,,2,779264,0.0000025665243101182655,0,0,,,0.709,,0.00,0.00,-0.402,,,2,59004,0,0,0,58818,0,0,0,24434,0,0,0,41192,0,0,0,63438,0,0,0,4408,0,0,0,417754,0,0,0,912,0,0,0,74180,0,0,0,35124,0,0 -17-43104276-G-A,17,43104276,rs1057520871,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-15C>T,,c.302-15C>T,intron_variant,,,,1,1455330,6.871293795908832e-7,0,0,,,0.550,,0.00,0.00,0.977,,,0,33308,0,0,0,44574,0,0,0,26094,0,0,0,39614,0,0,1,53086,0,0,0,5696,0,0,0,1107002,0,0,,,,,0,85772,0,0,0,60184,0,0 -17-43104277-GA-G,17,43104277,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-17del,,c.302-17del,intron_variant,,,,1,827768,0.000001208067961071218,0,0,,,2.12,,0.00,0.00,0.0900,,,0,15646,0,0,0,974,0,0,0,5126,0,0,0,3610,0,0,0,276,0,0,0,1610,0,0,1,757056,0,0,,,,,0,16334,0,0,0,27136,0,0 -17-43104282-CATT-C,17,43104282,rs756577139,CATT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-24_302-22del,,c.302-24_302-22del,intron_variant,Likely benign,491056,,8,1605930,0.00000498153717783465,0,0,nfe,0.00000248,5.28,,0.00,0.00,-1.76,,,0,74626,0,0,1,59706,0,0,0,29550,0,0,0,44796,0,0,0,63588,0,0,0,5940,0,0,7,1174142,0,0,0,910,0,0,0,90464,0,0,0,62208,0,0 -17-43104283-A-G,17,43104283,rs758108974,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-22T>C,,c.302-22T>C,intron_variant,Likely benign,627760,,7,1606044,0.000004358535631651437,0,0,nfe,0.00000248,2.59,,0.00,0.00,0.670,,,0,74672,0,0,0,59752,0,0,0,29550,0,0,0,44810,0,0,0,63628,0,0,0,5924,0,0,7,1174118,0,0,0,912,0,0,0,90472,0,0,0,62206,0,0 -17-43104284-T-C,17,43104284,rs781404807,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-23A>G,,c.302-23A>G,intron_variant,Likely benign,491055,,4,1453410,0.0000027521483958415037,0,0,nfe,8.500000000000001e-7,4.82,,0.210,0.0600,-0.327,,,0,33206,0,0,0,44472,0,0,0,26080,0,0,0,39614,0,0,0,52978,0,0,0,5606,0,0,4,1105716,0,0,,,,,0,85628,0,0,0,60110,0,0 -17-43104287-T-C,17,43104287,rs1597897348,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-26A>G,,c.302-26A>G,intron_variant,,,,3,1604404,0.0000018698532289872127,0,0,,,10.4,,0.00,0.00,0.255,,,2,74596,0,0,0,59654,0,0,0,29540,0,0,1,44822,0,0,0,63488,0,0,0,5872,0,0,0,1173028,0,0,0,912,0,0,0,90346,0,0,0,62146,0,0 -17-43104288-G-T,17,43104288,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-27C>A,,c.302-27C>A,intron_variant,,,,1,1451782,6.888086503345543e-7,0,0,,,4.59,,0.00,0.00,0.627,,,0,33116,0,0,0,44366,0,0,0,26064,0,0,0,39602,0,0,1,52832,0,0,0,5552,0,0,0,1104694,0,0,,,,,0,85498,0,0,0,60058,0,0 -17-43104292-G-A,17,43104292,rs1319642104,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-31C>T,,c.302-31C>T,intron_variant,,,,6,1600944,0.000003747788804605283,0,0,afr,0.000025620000000000002,0.496,,0.00,0.00,-0.568,,,5,74428,0,0,0,59542,0,0,0,29506,0,0,0,44790,0,0,0,63278,0,0,0,5780,0,0,1,1170540,0,0,0,912,0,0,0,90168,0,0,0,62000,0,0 -17-43104293-C-T,17,43104293,rs202171570,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.302-32G>A,,c.302-32G>A,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,0.764,,0.00,0.00,-1.84,,,0,41528,0,0,0,15268,0,0,0,3470,0,0,1,5186,0,0,0,10582,0,0,0,292,0,0,0,67988,0,0,0,912,0,0,0,4822,0,0,0,2112,0,0 -17-43104293-C-A,17,43104293,rs202171570,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-32G>T,,c.302-32G>T,intron_variant,,,,2,1447908,0.0000013813032319733022,0,0,nfe,2.999999999999999e-7,0.567,,0.00,0.00,-1.84,,,0,32974,0,0,0,44228,0,0,0,26028,0,0,0,39580,0,0,0,52624,0,0,0,5440,0,0,2,1101894,0,0,,,,,0,85274,0,0,0,59866,0,0 -17-43104297-T-C,17,43104297,rs1256882250,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-36A>G,,c.302-36A>G,intron_variant,,,,1,625320,0.0000015991812192157616,0,0,,,6.73,,0.00,0.00,1.08,,,0,17486,0,0,1,43312,0,0,0,20938,0,0,0,36000,0,0,0,52262,0,0,0,3778,0,0,0,349426,0,0,,,,,0,69202,0,0,0,32916,0,0 -17-43104299-G-C,17,43104299,rs1251987547,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-38C>G,,c.302-38C>G,intron_variant,,,,1,1440636,6.941378668865696e-7,0,0,,,3.80,,0.00,0.00,1.22,,,0,32776,0,0,0,44186,0,0,0,25984,0,0,0,39538,0,0,0,52416,0,0,0,5348,0,0,1,1095596,0,0,,,,,0,85200,0,0,0,59592,0,0 -17-43104301-G-GA,17,43104301,rs2054645408,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-41dup,,c.302-41dup,intron_variant,,,,2,1437958,0.0000013908612073509796,0,0,nfe,2.999999999999999e-7,7.29,,0.00,0.00,1.12,,,0,32680,0,0,0,44088,0,0,0,25952,0,0,0,39506,0,0,0,52328,0,0,0,5310,0,0,2,1093490,0,0,,,,,0,85106,0,0,0,59498,0,0 -17-43104301-G-A,17,43104301,rs868177769,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-40C>T,,c.302-40C>T,intron_variant,,,,2,1437958,0.0000013908612073509796,0,0,nfe,2.999999999999999e-7,4.33,,0.00,0.00,1.12,,,0,32680,0,0,0,44088,0,0,0,25952,0,0,0,39506,0,0,0,52328,0,0,0,5310,0,0,2,1093490,0,0,,,,,0,85106,0,0,0,59498,0,0 -17-43104302-A-G,17,43104302,rs8176135,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-41T>C,,c.302-41T>C,intron_variant,Benign,264792,,1473,1589052,0.0009269677770142198,31,0,sas,0.01488825,10.4,,0.00,0.00,3.33,,,3,74268,0,0,6,59504,0,0,2,29426,0,0,1,44690,0,0,0,62896,0,0,4,5568,0,0,10,1160186,0,0,0,912,0,0,1401,90002,31,0,46,61600,0,0 -17-43104307-T-C,17,43104307,rs775978427,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-46A>G,,c.302-46A>G,intron_variant,,,,1,623952,0.0000016026873862091957,0,0,,,8.81,,0.00,0.00,-0.332,,,0,17446,0,0,0,43206,0,0,0,20926,0,0,0,35974,0,0,0,51772,0,0,0,3540,0,0,1,349072,0,0,,,,,0,69156,0,0,0,32860,0,0 -17-43104308-G-T,17,43104308,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-47C>A,,c.302-47C>A,intron_variant,,,,1,1427498,7.005263755185647e-7,0,0,,,1.92,,0.00,0.00,-0.769,,,0,32474,0,0,0,44088,0,0,0,25906,0,0,0,39456,0,0,0,51918,0,0,0,5096,0,0,1,1084422,0,0,,,,,0,84952,0,0,0,59186,0,0 -17-43104310-A-G,17,43104310,rs749322383,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-49T>C,,c.302-49T>C,intron_variant,,,,1,1421224,7.036188524820859e-7,0,0,,,12.6,,0.00,0.00,2.25,,,0,32292,0,0,0,43908,0,0,0,25846,0,0,0,39428,0,0,0,51654,0,0,0,4938,0,0,1,1079512,0,0,,,,,0,84680,0,0,0,58966,0,0 -17-43104310-A-C,17,43104310,rs749322383,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-49T>G,,c.302-49T>G,intron_variant,,,,9,1421224,0.000006332569672338773,0,0,amr,0.00010601999999999998,12.7,,0.00,0.00,2.25,,,0,32292,0,0,9,43908,0,0,0,25846,0,0,0,39428,0,0,0,51654,0,0,0,4938,0,0,0,1079512,0,0,,,,,0,84680,0,0,0,58966,0,0 -17-43104312-G-A,17,43104312,rs1472415736,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-51C>T,,c.302-51C>T,intron_variant,,,,4,1572446,0.0000025438075456963228,0,0,eas,0.00001783,6.78,,0.00,0.00,-0.169,,,1,73700,0,0,0,59130,0,0,0,29316,0,0,3,44616,0,0,0,62116,0,0,0,5262,0,0,0,1146938,0,0,0,912,0,0,0,89438,0,0,0,61018,0,0 -17-43104312-G-C,17,43104312,rs1472415736,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-51C>G,,c.302-51C>G,intron_variant,,,,2,1420398,0.0000014080560518953139,0,0,,,6.40,,0.00,0.00,-0.169,,,0,32282,0,0,0,43894,0,0,0,25844,0,0,0,39420,0,0,0,51544,0,0,0,4948,0,0,1,1078930,0,0,,,,,0,84604,0,0,1,58932,0,0 -17-43104314-A-C,17,43104314,rs950900588,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-53T>G,,c.302-53T>G,intron_variant,,,,6,1415752,0.000004238030389503246,0,0,sas,0.00003051,9.99,,0.00,0.00,-0.624,,,0,32156,0,0,0,43600,0,0,0,25792,0,0,0,39372,0,0,0,51366,0,0,0,4850,0,0,0,1075502,0,0,,,,,6,84360,0,0,0,58754,0,0 -17-43104318-T-C,17,43104318,rs2154550478,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-57A>G,,c.302-57A>G,intron_variant,,,,2,1406678,0.0000014217894926912912,0,0,,,12.5,,0.00,0.00,-0.847,,,0,31928,0,0,1,43370,0,0,0,25702,0,0,0,39284,0,0,0,51094,0,0,1,4730,0,0,0,1068122,0,0,,,,,0,84036,0,0,0,58412,0,0 -17-43104322-C-A,17,43104322,rs2054646488,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-61G>T,,c.302-61G>T,intron_variant,,,,2,1387444,0.0000014414996208855996,0,0,,,7.51,,0.00,0.00,1.17,,,1,31480,0,0,0,42786,0,0,0,25542,0,0,0,39126,0,0,0,50312,0,0,0,4514,0,0,1,1052690,0,0,,,,,0,83264,0,0,0,57730,0,0 -17-43104323-A-T,17,43104323,rs1297110986,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-62T>A,,c.302-62T>A,intron_variant,,,,5,1541698,0.0000032431773278553908,0,0,nfe,0.00000131,15.2,,0.00,0.00,0.726,,,0,73002,0,0,0,58056,0,0,0,29022,0,0,0,44348,0,0,0,60986,0,0,0,4844,0,0,5,1122434,0,0,0,912,0,0,0,88172,0,0,0,59922,0,0 -17-43104325-AG-A,17,43104325,rs1247247577,AG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-65del,,c.302-65del,intron_variant,,,,7,1485352,0.000004712687632291875,0,0,nfe,0.00000136,9.84,,0.00,0.00,1.47,,,0,71716,0,0,0,56886,0,0,0,28610,0,0,0,43904,0,0,0,59790,0,0,0,4480,0,0,5,1074466,0,0,0,912,0,0,0,86502,0,0,2,58086,0,0 -17-43104326-G-T,17,43104326,rs2054646610,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-65C>A,,c.302-65C>A,intron_variant,,,,2,1334320,0.0000014988908207926135,0,0,nfe,3.3e-7,11.6,,0.00,0.00,1.10,,,0,30284,0,0,0,41584,0,0,0,25158,0,0,0,38708,0,0,0,49088,0,0,0,4174,0,0,2,1007644,0,0,,,,,0,81644,0,0,0,56036,0,0 -17-43104331-C-T,17,43104331,rs147809611,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-70G>A,,c.302-70G>A,intron_variant,Benign,209487,,182,1492554,0.00012193863672604141,0,0,eas,0.00227287,16.4,,0.00,0.00,0.747,,,0,71854,0,0,1,56862,0,0,0,28636,0,0,117,43904,0,0,0,59650,0,0,1,4470,0,0,1,1081410,0,0,0,912,0,0,46,86534,0,0,16,58322,0,0 -17-43104331-C-A,17,43104331,rs147809611,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-70G>T,,c.302-70G>T,intron_variant,,,,1,1340478,7.460025453606848e-7,0,0,,,16.0,,0.00,0.00,0.747,,,0,30384,0,0,0,41592,0,0,0,25166,0,0,0,38718,0,0,0,49082,0,0,0,4176,0,0,1,1013432,0,0,,,,,0,81714,0,0,0,56214,0,0 -17-43104332-A-G,17,43104332,rs1483725959,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-71T>C,,c.302-71T>C,intron_variant,,,,7,1498180,0.000004672335767397776,0,0,nfe,0.0000026800000000000006,14.5,,0.00,0.00,0.461,,,0,71954,0,0,0,56900,0,0,0,28676,0,0,0,43978,0,0,0,59770,0,0,0,4516,0,0,7,1086298,0,0,0,912,0,0,0,86726,0,0,0,58450,0,0 -17-43104334-G-A,17,43104334,rs2054647254,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-73C>T,,c.302-73C>T,intron_variant,,,,1,1341366,7.455086829396302e-7,0,0,,,10.5,,0.00,0.00,0.345,,,0,30380,0,0,0,41344,0,0,0,25154,0,0,0,38698,0,0,0,48832,0,0,0,4156,0,0,1,1015008,0,0,,,,,0,81576,0,0,0,56218,0,0 -17-43104336-G-A,17,43104336,rs2154550524,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-75C>T,,c.302-75C>T,intron_variant,,,,1,1320460,7.573118458718932e-7,0,0,,,10.4,,0.00,0.00,0.262,,,1,29886,0,0,0,40940,0,0,0,24980,0,0,0,38534,0,0,0,48216,0,0,0,4060,0,0,0,997242,0,0,,,,,0,81034,0,0,0,55568,0,0 -17-43104336-G-GC,17,43104336,,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-76_302-75insG,,c.302-76_302-75insG,intron_variant,,,,2,1320444,0.000001514642044645589,0,0,sas,0.0000041,15.6,,0.00,0.00,0.262,,,0,29886,0,0,0,40940,0,0,0,24980,0,0,0,38534,0,0,0,48216,0,0,0,4060,0,0,0,997226,0,0,,,,,2,81034,0,0,0,55568,0,0 -17-43104793-G-C,17,43104793,rs2154551136,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+75C>G,,c.301+75C>G,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,1.71,,0.0100,0.0200,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,1,1048,0,0,0,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 -17-43104793-GA-G,17,43104793,rs2054665206,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+74del,,c.301+74del,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,3.81,,0.0100,-0.0400,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,0,1048,0,0,1,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 -17-43104793-G-T,17,43104793,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+75C>A,,c.301+75C>A,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,1.56,,0.00,0.0100,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,0,1048,0,0,1,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 -17-43104799-AAT-A,17,43104799,rs2054665327,AAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+67_301+68del,,c.301+67_301+68del,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,3.17,,0.00,0.0300,0.825,,,0,41470,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10624,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43104800-AT-A,17,43104800,rs1392904142,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+67del,,c.301+67del,intron_variant,,,,4,1355850,0.0000029501788545930597,0,0,nfe,9.9e-7,0.0130,,0.00,0.0200,0.667,,,0,69508,0,0,0,59624,0,0,0,27936,0,0,0,43658,0,0,0,63058,0,0,0,5590,0,0,4,945792,0,0,0,912,0,0,0,85718,0,0,0,54054,0,0 -17-43104802-T-C,17,43104802,rs2054665560,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+66A>G,,c.301+66A>G,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,2.11,,0.0100,-0.0200,-0.0620,,,0,41454,0,0,0,15278,0,0,0,3470,0,0,1,5200,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43104802-T-TGAC,17,43104802,rs2054665691,T,TGAC,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+65_301+66insGTC,,c.301+65_301+66insGTC,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,0.389,,0.0300,-0.0200,-0.0620,,,0,41454,0,0,0,15278,0,0,0,3470,0,0,0,5200,0,0,0,10628,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43104803-G-T,17,43104803,rs2154551184,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+65C>A,,c.301+65C>A,intron_variant,,,,1,1236884,8.084832530778958e-7,0,0,,,0.108,,0.00,0.0100,-0.00800,,,0,28732,0,0,0,44406,0,0,0,24664,0,0,0,38608,0,0,0,52462,0,0,0,5330,0,0,1,908206,0,0,,,,,0,81528,0,0,0,52948,0,0 -17-43104804-T-C,17,43104804,rs1433828217,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+64A>G,,c.301+64A>G,intron_variant,,,,1,152230,0.000006569007422978388,0,0,,,1.34,,0.0100,-0.0200,-1.96,,,1,41464,0,0,0,15270,0,0,0,3470,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43104809-A-G,17,43104809,rs2154551219,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+59T>C,,c.301+59T>C,intron_variant,,,,21,1307976,0.00001605534046496266,0,0,nfe,0.00001387,12.3,,0.0100,-0.0200,0.320,,,0,30220,0,0,0,44518,0,0,0,25190,0,0,0,38922,0,0,0,52764,0,0,0,5464,0,0,21,972544,0,0,,,,,0,83066,0,0,0,55288,0,0 -17-43104810-C-T,17,43104810,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+58G>A,,c.301+58G>A,intron_variant,,,,1,627722,0.0000015930618968269393,0,0,,,9.04,,0.00,0.0100,-0.220,,,0,17672,0,0,0,43730,0,0,0,20958,0,0,0,35986,0,0,0,52528,0,0,1,4142,0,0,0,349890,0,0,,,,,0,69754,0,0,0,33062,0,0 -17-43104813-C-T,17,43104813,rs868735744,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+55G>A,,c.301+55G>A,intron_variant,Benign,433688,,78,1480314,0.000052691523555137626,0,0,amr,0.00005448999999999998,8.67,,0.00,0.0200,0.556,,,0,72182,0,0,7,59820,0,0,0,28782,0,0,0,44204,0,0,0,63450,0,0,35,5792,0,0,29,1058782,0,0,0,910,0,0,1,88272,0,0,6,58120,0,0 -17-43104815-T-C,17,43104815,rs2154551240,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+53A>G,,c.301+53A>G,intron_variant,,,,1,1344152,7.439634803206781e-7,0,0,,,5.83,,0.00,0.0100,-1.25,,,0,30962,0,0,0,44566,0,0,0,25414,0,0,0,39088,0,0,0,52932,0,0,0,5528,0,0,0,1005312,0,0,,,,,0,83810,0,0,1,56540,0,0 -17-43104816-G-A,17,43104816,rs1449227369,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+52C>T,,c.301+52C>T,intron_variant,,,,2,1497280,0.0000013357555033126736,0,0,,,7.33,,0.00,0.0500,0.316,,,0,72464,0,0,0,59836,0,0,0,28886,0,0,0,44300,0,0,0,63516,0,0,0,5846,0,0,2,1074202,0,0,0,910,0,0,0,88648,0,0,0,58672,0,0 -17-43104816-G-T,17,43104816,rs1449227369,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+52C>A,,c.301+52C>A,intron_variant,,,,3,1345074,0.000002230360560088144,0,0,,,6.83,,0.00,0.0200,0.316,,,0,31014,0,0,0,44562,0,0,0,25414,0,0,0,39096,0,0,0,52898,0,0,2,5530,0,0,0,1006170,0,0,,,,,0,83812,0,0,1,56578,0,0 -17-43104816-GA-G,17,43104816,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+51del,,c.301+51del,intron_variant,,,,5,1345076,0.0000037172620729237606,0,0,nfe,0.0000014600000000000002,8.26,,0.00,-0.0400,0.316,,,0,31014,0,0,0,44562,0,0,0,25414,0,0,0,39096,0,0,0,52898,0,0,0,5530,0,0,5,1006172,0,0,,,,,0,83812,0,0,0,56578,0,0 -17-43104822-TC-T,17,43104822,,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+45del,,c.301+45del,intron_variant,,,,1,628136,0.0000015920119209852643,0,0,,,0.298,,0.00,0.0700,0.321,,,0,17680,0,0,0,43734,0,0,0,20972,0,0,0,35996,0,0,0,52770,0,0,0,4144,0,0,1,349978,0,0,,,,,0,69786,0,0,0,33076,0,0 -17-43104824-A-G,17,43104824,rs1414568972,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+44T>C,,c.301+44T>C,intron_variant,,,,1,152246,0.0000065683170658014006,0,0,,,7.80,,0.0300,-0.0300,0.368,,,0,41466,0,0,1,15282,0,0,0,3472,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43104826-G-A,17,43104826,rs2154551271,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+42C>T,,c.301+42C>T,intron_variant,,,,1,760306,0.0000013152599085105207,0,0,,,4.84,,0.00,0.0400,0.847,,,0,14200,0,0,0,870,0,0,0,4696,0,0,0,3282,0,0,0,258,0,0,0,1474,0,0,1,695672,0,0,,,,,0,14920,0,0,0,24934,0,0 -17-43104828-A-T,17,43104828,rs2154551285,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+40T>A,,c.301+40T>A,intron_variant,,,,1,1396226,7.162164291454249e-7,0,0,,,1.43,,0.00,-0.0400,-0.0590,,,0,32036,0,0,0,44612,0,0,0,25726,0,0,0,39318,0,0,0,53110,0,0,0,5628,0,0,1,1052646,0,0,,,,,0,84870,0,0,0,58280,0,0 -17-43104828-A-G,17,43104828,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+40T>C,,c.301+40T>C,intron_variant,,,,1,1396226,7.162164291454249e-7,0,0,,,2.07,,0.0300,-0.0300,-0.0590,,,0,32036,0,0,0,44612,0,0,0,25726,0,0,0,39318,0,0,0,53110,0,0,0,5628,0,0,1,1052646,0,0,,,,,0,84870,0,0,0,58280,0,0 -17-43104830-A-T,17,43104830,rs2154551290,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+38T>A,,c.301+38T>A,intron_variant,,,,1,1399934,7.143193893426404e-7,0,0,,,4.86,,0.0300,-0.0400,0.712,,,0,32118,0,0,0,44616,0,0,0,25758,0,0,0,39328,0,0,0,53142,0,0,1,5630,0,0,0,1055996,0,0,,,,,0,84966,0,0,0,58380,0,0 -17-43104831-G-A,17,43104831,rs768740518,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+37C>T,,c.301+37C>T,intron_variant,,,,14,1399646,0.000010002529210957629,0,0,sas,0.00009934999999999999,4.95,,0.00,0.0400,0.692,,,0,32142,0,0,0,44610,0,0,0,25740,0,0,0,39330,0,0,0,53108,0,0,0,5630,0,0,0,1055804,0,0,,,,,14,84952,0,0,0,58330,0,0 -17-43104831-G-C,17,43104831,rs768740518,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+37C>G,,c.301+37C>G,intron_variant,,,,2,1399646,0.0000014289327444225182,0,0,nfe,3.200000000000001e-7,4.88,,0.0200,-0.0100,0.692,,,0,32142,0,0,0,44610,0,0,0,25740,0,0,0,39330,0,0,0,53108,0,0,0,5630,0,0,2,1055804,0,0,,,,,0,84952,0,0,0,58330,0,0 -17-43104832-C-A,17,43104832,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+36G>T,,c.301+36G>T,intron_variant,,,,1,1404600,7.119464616260857e-7,0,0,,,3.95,,0.00,0.0400,0.139,,,0,32242,0,0,0,44616,0,0,0,25782,0,0,0,39366,0,0,0,53118,0,0,0,5648,0,0,0,1060256,0,0,,,,,1,85052,0,0,0,58520,0,0 -17-43104835-T-C,17,43104835,rs774467462,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+33A>G,,c.301+33A>G,intron_variant,,,,9,1423114,0.000006324159554329449,0,0,eas,0.00010081999999999996,5.88,,0.0400,-0.0600,0.330,,,0,32642,0,0,0,44656,0,0,1,25902,0,0,8,39452,0,0,0,53178,0,0,0,5690,0,0,0,1077024,0,0,,,,,0,85470,0,0,0,59100,0,0 -17-43104836-T-C,17,43104836,rs1567810963,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+32A>G,,c.301+32A>G,intron_variant,,,,11,1425748,0.000007715248416971303,0,0,nfe,0.00000547,8.07,,0.0400,-0.0200,-0.0180,,,0,32708,0,0,0,44662,0,0,0,25920,0,0,0,39462,0,0,0,53186,0,0,0,5700,0,0,11,1079404,0,0,,,,,0,85510,0,0,0,59196,0,0 -17-43104837-G-C,17,43104837,rs761913715,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+31C>G,,c.301+31C>G,intron_variant,,,,1,1425552,7.014826537369384e-7,0,0,,,7.11,,0.0500,-0.0500,1.72,,,0,32700,0,0,0,44660,0,0,0,25920,0,0,0,39466,0,0,1,53170,0,0,0,5698,0,0,0,1079230,0,0,,,,,0,85504,0,0,0,59204,0,0 -17-43104844-A-G,17,43104844,rs767849754,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+24T>C,,c.301+24T>C,intron_variant,,,,14,1596410,0.000008769676962685024,0,0,nfe,0.0000055,2.87,,0.0400,0.0200,3.84,,,0,74576,0,0,0,59974,0,0,0,29502,0,0,0,44758,0,0,0,63866,0,0,0,6046,0,0,12,1164166,0,0,0,912,0,0,1,90734,0,0,1,61876,0,0 -17-43104844-A-C,17,43104844,rs767849754,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+24T>G,,c.301+24T>G,intron_variant,,,,8,1596528,0.000005010873595702675,0,0,sas,0.00003599999999999999,4.05,,0.0900,-0.100,3.84,,,0,74698,0,0,0,59994,0,0,0,29502,0,0,0,44746,0,0,0,63866,0,0,1,6024,0,0,0,1164158,0,0,0,912,0,0,7,90730,0,0,0,61898,0,0 -17-43104847-C-CT,17,43104847,rs778150461,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+20dup,,c.301+20dup,intron_variant,Benign,1286192,,23,1598548,0.000014388057161874401,0,0,afr,0.00021057999999999998,0.603,,0.00,0.0300,1.49,,,23,74622,0,0,0,59966,0,0,0,29504,0,0,0,44756,0,0,0,63882,0,0,0,6050,0,0,0,1166124,0,0,0,912,0,0,0,90756,0,0,0,61976,0,0 -17-43104856-T-G,17,43104856,rs863224757,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+12A>C,,c.301+12A>C,intron_variant,Benign/Likely benign,216660,,6,1608442,0.000003730317910126694,0,0,amr,0.00000553,7.31,,0.0300,0.0200,-0.291,,,0,74810,0,0,2,59972,0,0,0,29570,0,0,0,44816,0,0,0,63916,0,0,0,6068,0,0,4,1175132,0,0,0,912,0,0,0,90960,0,0,0,62286,0,0 -17-43104857-T-G,17,43104857,rs1555596621,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+11A>C,,c.301+11A>C,intron_variant,Conflicting interpretations of pathogenicity,496361,,1,628476,0.0000015911506565087609,0,0,,,2.14,,0.00,0.0200,-0.0420,,,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36012,0,0,0,53016,0,0,0,4146,0,0,1,350030,0,0,,,,,0,69794,0,0,0,33080,0,0 -17-43104858-C-T,17,43104858,rs80358001,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+10G>A,,c.301+10G>A,intron_variant,Likely benign,125663,,5,981872,0.000005092313458373393,0,0,afr,0.00003384999999999999,0.693,,0.00,0.0700,-0.491,,,5,57172,0,0,0,16246,0,0,0,8604,0,0,0,8810,0,0,0,10888,0,0,0,1928,0,0,0,826818,0,0,0,912,0,0,0,21216,0,0,0,29278,0,0 -17-43104860-A-G,17,43104860,rs80358101,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+8T>C,,c.301+8T>C,splice_region_variant,Benign,125666,,146,1610996,0.00009062716480984435,0,0,afr,0.0013673599999999993,9.29,,0.0600,-0.140,0.375,,,120,74994,0,0,14,59996,0,0,0,29588,0,0,0,44820,0,0,0,63928,0,0,4,6052,0,0,1,1177302,0,0,0,912,0,0,1,91014,0,0,6,62390,0,0 -17-43104861-C-T,17,43104861,rs80358113,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+7G>A,,c.301+7G>A,splice_region_variant,Benign,37499,,87,1610834,0.000054009289597810824,0,0,nfe,0.00005311,1.46,,0.0200,0.0300,0.0920,,,0,74874,0,0,0,59992,0,0,4,29586,0,0,0,44830,0,0,3,63922,0,0,0,6070,0,0,77,1177260,0,0,0,912,0,0,0,91012,0,0,3,62376,0,0 -17-43104861-C-A,17,43104861,rs80358113,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+7G>T,,c.301+7G>T,splice_region_variant,not provided,865652,,1,1458618,6.85580460408414e-7,0,0,,,1.41,,0.0600,-0.0600,0.0920,,,0,33418,0,0,0,44716,0,0,0,26114,0,0,0,39628,0,0,0,53296,0,0,0,5754,0,0,0,1109226,0,0,,,,,1,86182,0,0,0,60284,0,0 -17-43104862-A-G,17,43104862,rs753859240,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+6T>C,,c.301+6T>C,intron_variant,Uncertain significance,224562,,10,1459442,0.000006851933821282381,0,0,nfe,0.00000456,22.6,,0.590,-0.450,4.54,,,0,33432,0,0,0,44716,0,0,0,26122,0,0,0,39636,0,0,0,53300,0,0,0,5762,0,0,10,1109958,0,0,,,,,0,86204,0,0,0,60312,0,0 -17-43104863-C-T,17,43104863,rs80358149,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+5G>A,,c.301+5G>A,intron_variant,Uncertain significance,125665,,1,831020,0.000001203340473153474,0,0,,,23.9,,0.670,-0.500,8.90,,,0,15738,0,0,0,984,0,0,0,5142,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,1,759990,0,0,,,,,0,16402,0,0,0,27244,0,0 -17-43104865-T-TA,17,43104865,rs273899694,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+2dup,,c.301+2dup,splice_region_variant,Uncertain significance,125664,,4,831492,0.000004810629567091445,0,0,afr,0.000051319999999999997,22.7,,0.670,-0.500,2.37,,,3,15752,0,0,0,984,0,0,0,5140,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,1,760432,0,0,,,,,0,16412,0,0,0,27252,0,0 -17-43104867-C-T,17,43104867,rs587782173,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+1G>A,,c.301+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,142004,,7,1460460,0.000004793010421374088,0,0,nfe,0.0000026200000000000003,32.0,,0.670,-0.500,7.14,,,0,33442,0,0,0,44718,0,0,0,26124,0,0,0,39644,0,0,0,53316,0,0,0,5764,0,0,7,1110884,0,0,,,,,0,86218,0,0,0,60350,0,0 -17-43104867-C-G,17,43104867,rs587782173,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+1G>C,,c.301+1G>C,splice_donor_variant,Conflicting interpretations of pathogenicity,267517,,13,1460460,0.000008901305068266162,0,0,nfe,0.00000653,32.0,,0.670,-0.500,7.14,,,0,33442,0,0,0,44718,0,0,0,26124,0,0,0,39644,0,0,0,53316,0,0,0,5764,0,0,13,1110884,0,0,,,,,0,86218,0,0,0,60350,0,0 -17-43104867-C-A,17,43104867,rs587782173,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+1G>T,,c.301+1G>T,splice_donor_variant,Conflicting interpretations of pathogenicity,246510,,13,1612678,0.000008061125655586547,0,0,nfe,0.00000615,33.0,,0.670,-0.500,7.14,,,0,74896,0,0,0,59994,0,0,0,29596,0,0,0,44846,0,0,0,63942,0,0,0,6080,0,0,13,1178926,0,0,0,912,0,0,0,91048,0,0,0,62438,0,0 -17-43104868-A-C,17,43104868,rs1555596637,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr101Asp,p.Tyr101Asp,c.301T>G,missense_variant,not provided,868832,,1,628512,0.0000015910595183544625,0,0,,,19.7,0.560,0.0200,0.0300,1.15,0.00,0.0230,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36014,0,0,0,53030,0,0,0,4146,0,0,1,350048,0,0,,,,,0,69794,0,0,0,33082,0,0 -17-43104868-A-G,17,43104868,rs1555596637,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr101His,p.Tyr101His,c.301T>C,missense_variant,Uncertain significance,489713,,1,628512,0.0000015910595183544625,0,0,,,20.1,0.545,0.0300,0.0900,1.15,0.00,0.0540,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36014,0,0,0,53030,0,0,0,4146,0,0,1,350048,0,0,,,,,0,69794,0,0,0,33082,0,0 -17-43104871-C-G,17,43104871,rs2054670804,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu100Gln,p.Glu100Gln,c.298G>C,missense_variant,,,,2,628504,0.000003182159540750735,0,0,sas,0.00000476,16.8,0.447,0.00,0.0700,4.95,1.00,0.00,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53024,0,0,0,4146,0,0,0,350048,0,0,,,,,2,69786,0,0,0,33084,0,0 -17-43104879-G-C,17,43104879,rs431825393,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr97Arg,p.Thr97Arg,c.290C>G,missense_variant,Uncertain significance,96909,,8,984988,0.000008121926358493707,0,0,nfe,0.00000415,24.6,0.724,0.00,-0.0200,7.00,0.0400,0.737,0,57214,0,0,0,16250,0,0,0,8622,0,0,0,8832,0,0,0,10884,0,0,0,1936,0,0,8,829682,0,0,0,912,0,0,0,21276,0,0,0,29380,0,0 -17-43104880-T-A,17,43104880,rs1404795980,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr97Ser,p.Thr97Ser,c.289A>T,missense_variant,not provided,865373,,1,832916,0.0000012006012611115646,0,0,,,22.6,0.630,0.0600,-0.0800,2.31,0.150,0.549,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761720,0,0,,,,,0,16456,0,0,1,27294,0,0 -17-43104880-T-C,17,43104880,rs1404795980,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr97Ala,p.Thr97Ala,c.289A>G,missense_variant,Uncertain significance,441379,,1,152222,0.000006569352655989279,0,0,,,22.9,0.707,0.0100,0.0100,2.31,0.0800,0.444,0,41460,0,0,0,15272,0,0,0,3472,0,0,0,5206,0,0,0,10626,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 -17-43104881-G-A,17,43104881,rs146085503,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp96Asp,p.Asp96Asp,c.288C>T,synonymous_variant,Likely benign,182084,,56,1613658,0.000034703760028457083,0,0,nfe,0.00003667,12.6,,0.100,-0.0700,2.92,,,1,74934,0,0,0,59984,0,0,0,29600,0,0,0,44834,0,0,0,63936,0,0,0,6082,0,0,55,1179820,0,0,0,912,0,0,0,91088,0,0,0,62468,0,0 -17-43104882-T-A,17,43104882,rs864622444,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp96Val,p.Asp96Val,c.287A>T,missense_variant,Pathogenic,868827,,1,832970,0.0000012005234282147015,0,0,,,28.8,0.848,0.00,-0.110,6.36,0.00,0.702,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761768,0,0,,,,,0,16460,0,0,0,27294,0,0 -17-43104884-A-G,17,43104884,rs2054674739,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu95Leu,p.Leu95Leu,c.285T>C,synonymous_variant,not provided,868353,,1,832984,0.0000012005032509628036,0,0,,,9.06,,0.0400,0.0200,0.215,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761782,0,0,,,,,0,16460,0,0,0,27296,0,0 -17-43104887-C-A,17,43104887,rs1597898117,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln94His,p.Gln94His,c.282G>T,missense_variant,Likely benign,821868,,3,628542,0.000004772950733602527,0,0,eas,0.00002207,21.1,0.596,0.330,-0.130,0.578,0.00,0.00100,0,17686,0,0,0,43736,0,0,0,20976,0,0,3,36020,0,0,0,53042,0,0,0,4146,0,0,0,350058,0,0,,,,,0,69794,0,0,0,33084,0,0 -17-43104902-G-C,17,43104902,rs80356963,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile89Met,p.Ile89Met,c.267C>G,missense_variant,Likely benign,54642,,1,152196,0.0000065704749139267785,0,0,,,21.2,0.638,0.00,-0.0700,1.34,0.0500,0.0740,1,41456,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 -17-43104903-A-G,17,43104903,rs80357097,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile89Thr,p.Ile89Thr,c.266T>C,missense_variant,Likely benign,54635,,2,1461626,0.000001368339096321494,0,0,eas,0.00000836,18.9,0.613,0.120,0.0600,2.27,0.620,0.444,0,33474,0,0,0,44722,0,0,0,26128,0,0,2,39654,0,0,0,53318,0,0,0,5766,0,0,0,1111930,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43104908-C-T,17,43104908,rs757971617,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu87Leu,p.Leu87Leu,c.261G>A,synonymous_variant,Likely benign,427354,,2,628538,0.0000031819874056938485,0,0,nfe,9.5e-7,17.1,,0.320,-0.320,3.61,,,0,17690,0,0,0,43734,0,0,0,20976,0,0,0,36022,0,0,0,53036,0,0,0,4146,0,0,2,350056,0,0,,,,,0,69792,0,0,0,33086,0,0 -17-43104910-A-C,17,43104910,rs80357091,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu87Val,p.Leu87Val,c.259T>G,missense_variant,Conflicting interpretations of pathogenicity,54614,,3,628560,0.000004772814051164566,0,0,,,22.9,0.623,0.150,-0.140,0.324,0.0100,0.0910,0,17690,0,0,0,43738,0,0,2,20978,0,0,0,36022,0,0,0,53048,0,0,0,4146,0,0,0,350058,0,0,,,,,0,69794,0,0,1,33086,0,0 -17-43104911-T-C,17,43104911,rs777491912,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu86Leu,p.Leu86Leu,c.258A>G,synonymous_variant,Likely benign,187586,,4,1461650,0.0000027366332569356547,0,0,nfe,7.200000000000001e-7,5.42,,0.110,0.100,-2.18,,,0,33476,0,0,1,44722,0,0,0,26130,0,0,0,39650,0,0,0,53320,0,0,0,5766,0,0,3,1111948,0,0,,,,,0,86254,0,0,0,60384,0,0 -17-43104911-T-A,17,43104911,rs777491912,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu86Leu,p.Leu86Leu,c.258A>T,synonymous_variant,Likely benign,427292,,10,1461650,0.0000068415831423391375,0,0,nfe,0.0000031,4.62,,0.00,-0.0600,-2.18,,,0,33476,0,0,0,44722,0,0,0,26130,0,0,0,39650,0,0,0,53320,0,0,0,5766,0,0,8,1111948,0,0,,,,,0,86254,0,0,2,60384,0,0 -17-43104914-C-T,17,43104914,rs756499058,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu85Glu,p.Glu85Glu,c.255G>A,synonymous_variant,Likely benign,186047,,1,833102,0.0000012003332124997898,0,0,,,10.9,,0.0300,0.0500,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43104914-CTCT-C,17,43104914,rs1064797221,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu85del,p.Glu85del,c.252_254del,inframe_deletion,Uncertain significance,425132,,1,833102,0.0000012003332124997898,0,0,,,22.7,,0.530,-0.400,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43104914-C-A,17,43104914,rs756499058,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu85Asp,p.Glu85Asp,c.255G>T,missense_variant,Conflicting interpretations of pathogenicity,230500,,1,152214,0.0000065696979252893955,0,0,,,23.2,0.552,0.0300,0.0600,1.61,,,0,41456,0,0,0,15266,0,0,0,3470,0,0,0,5204,0,0,0,10622,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43104918-T-C,17,43104918,rs2054685676,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu84Gly,p.Glu84Gly,c.251A>G,missense_variant,not provided,868310,,1,628532,0.0000015910088905576805,0,0,,,29.2,0.743,0.110,-0.100,6.36,0.00,0.628,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36020,0,0,0,53024,0,0,0,4146,0,0,0,350060,0,0,,,,,0,69794,0,0,1,33084,0,0 -17-43104920-A-C,17,43104920,rs780485347,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Val,p.Val83Val,c.249T>G,synonymous_variant,Likely benign,865326,,2,1461616,0.0000013683484581449573,0,0,nfe,2.999999999999999e-7,12.5,,0.0900,0.0800,0.723,,,0,33476,0,0,0,44720,0,0,0,26130,0,0,0,39650,0,0,0,53294,0,0,0,5766,0,0,2,1111948,0,0,,,,,0,86254,0,0,0,60378,0,0 -17-43104920-A-G,17,43104920,rs780485347,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Val,p.Val83Val,c.249T>C,synonymous_variant,Likely benign,427335,,1,1461616,6.841742290724787e-7,0,0,,,12.8,,0.0900,0.0900,0.723,,,0,33476,0,0,0,44720,0,0,0,26130,0,0,1,39650,0,0,0,53294,0,0,0,5766,0,0,0,1111948,0,0,,,,,0,86254,0,0,0,60378,0,0 -17-43104922-CA-C,17,43104922,rs886040039,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83LeufsTer5,p.Val83LeufsTer5,c.246del,frameshift_variant,Pathogenic,266264,,2,1461600,0.0000013683634373289545,0,0,nfe,2.999999999999999e-7,23.5,,0.0500,-0.150,5.96,,,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39650,0,0,0,53284,0,0,0,5766,0,0,2,1111944,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43104922-C-T,17,43104922,rs1060502343,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Ile,p.Val83Ile,c.247G>A,missense_variant,Uncertain significance,629283,,6,1461600,0.000004105090311986864,0,0,nfe,0.00000194,21.5,0.575,0.0700,-0.0600,5.96,0.230,0.444,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39650,0,0,0,53284,0,0,0,5766,0,0,6,1111944,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43104925-G-A,17,43104925,rs2054688287,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu82Phe,p.Leu82Phe,c.244C>T,missense_variant,not provided,868803,,1,628490,0.0000015911152126525483,0,0,,,31.0,0.693,0.300,-0.300,7.00,0.00,0.0750,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36020,0,0,0,52994,0,0,0,4146,0,0,1,350050,0,0,,,,,0,69794,0,0,0,33082,0,0 -17-43104926-T-C,17,43104926,rs863224418,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln81Gln,p.Gln81Gln,c.243A>G,synonymous_variant,Likely benign,215871,,7,1461600,0.000004789272030651341,0,0,nfe,0.00000194,10.9,,0.170,-0.160,-1.02,,,0,33476,0,0,0,44720,0,0,0,26128,0,0,1,39648,0,0,0,53294,0,0,0,5766,0,0,6,1111934,0,0,,,,,0,86254,0,0,0,60380,0,0 -17-43104928-G-A,17,43104928,rs80357350,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln81Ter,p.Gln81Ter,c.241C>T,stop_gained,Pathogenic,54565,,1,628474,0.000001591155720045698,0,0,,,37.0,,0.510,-0.410,7.00,,,0,17690,0,0,0,43736,0,0,0,20976,0,0,0,36018,0,0,0,52988,0,0,0,4146,0,0,0,350046,0,0,,,,,1,69790,0,0,0,33084,0,0 -17-43104930-C-T,17,43104930,rs2054690270,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser80Asn,p.Ser80Asn,c.239G>A,missense_variant,Likely benign,865315,,1,628460,0.000001591191165706648,0,0,,,23.3,0.500,0.0100,0.110,3.61,0.120,0.922,0,17688,0,0,0,43736,0,0,0,20976,0,0,0,36016,0,0,0,52978,0,0,0,4146,0,0,0,350042,0,0,,,,,1,69794,0,0,0,33084,0,0 -17-43104938-C-T,17,43104938,rs80356847,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr77Thr,p.Thr77Thr,c.231G>A,synonymous_variant,Likely benign,142611,,6,1461444,0.000004105528504684408,0,0,nfe,0.0000013199999999999999,10.4,,0.0100,-0.0300,1.00,,,0,33472,0,0,1,44720,0,0,0,26128,0,0,0,39642,0,0,0,53220,0,0,0,5766,0,0,5,1111872,0,0,,,,,0,86244,0,0,0,60380,0,0 -17-43104939-G-C,17,43104939,rs80357209,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr77Arg,p.Thr77Arg,c.230C>G,missense_variant,Conflicting interpretations of pathogenicity,54528,,1,1461308,6.843184325275712e-7,0,0,,,29.8,0.597,0.200,-0.210,8.80,0.00,0.790,0,33470,0,0,0,44720,0,0,0,26126,0,0,0,39644,0,0,0,53180,0,0,0,5766,0,0,0,1111782,0,0,,,,,1,86250,0,0,0,60370,0,0 -17-43104939-G-A,17,43104939,rs80357209,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr77Met,p.Thr77Met,c.230C>T,missense_variant,Conflicting interpretations of pathogenicity,54529,,11,1613388,0.000006817950796708541,0,0,afr,0.00001064,32.0,0.625,0.310,-0.280,8.80,0.00,0.818,3,74876,0,0,0,59974,0,0,0,29598,0,0,0,44838,0,0,0,63758,0,0,0,6082,0,0,4,1179808,0,0,0,910,0,0,3,91082,0,0,1,62462,0,0 -17-43104947-T-G,17,43104947,rs730881465,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln74His,p.Gln74His,c.222A>C,missense_variant,Conflicting interpretations of pathogenicity,182124,,1,152208,0.000006569956901082729,0,0,,,23.0,0.559,0.0200,-0.0600,0.433,,,1,41450,0,0,0,15266,0,0,0,3472,0,0,0,5200,0,0,0,10626,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 -17-43104947-T-C,17,43104947,rs730881465,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln74Gln,p.Gln74Gln,c.222A>G,synonymous_variant,Likely benign,231529,,1,628390,0.0000015913684177023822,0,0,,,10.1,,0.100,-0.150,0.433,,,0,17688,0,0,0,43736,0,0,0,20974,0,0,0,36012,0,0,0,52924,0,0,0,4146,0,0,1,350032,0,0,,,,,0,69794,0,0,0,33084,0,0 -17-43104949-G-T,17,43104949,rs80357234,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln74Lys,p.Gln74Lys,c.220C>A,missense_variant,Uncertain significance,629710,,1,1460930,6.844954925971812e-7,0,0,,,28.2,0.557,0.200,-0.290,8.80,0.0100,0.0460,0,33468,0,0,0,44720,0,0,0,26122,0,0,0,39640,0,0,0,53140,0,0,0,5764,0,0,1,1111466,0,0,,,,,0,86244,0,0,0,60366,0,0 -17-43104950-T-C,17,43104950,rs876659123,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu73Leu,p.Leu73Leu,c.219A>G,synonymous_variant,Likely benign,231377,,2,628340,0.000003182990100900786,0,0,amr,0.000007580000000000001,8.64,,0.00,0.0400,-1.28,,,0,17686,0,0,2,43736,0,0,0,20972,0,0,0,36012,0,0,0,52888,0,0,0,4146,0,0,0,350022,0,0,,,,,0,69794,0,0,0,33084,0,0 -17-43104952-G-A,17,43104952,rs786201203,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu73Leu,p.Leu73Leu,c.217C>T,synonymous_variant,Likely benign,183982,,1,1460822,6.845460980187867e-7,0,0,,,13.6,,0.150,-0.240,4.19,,,0,33468,0,0,0,44718,0,0,0,26122,0,0,0,39640,0,0,0,53116,0,0,0,5764,0,0,1,1111398,0,0,,,,,0,86238,0,0,0,60358,0,0 -17-43104953-G-C,17,43104953,rs80356967,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser72Arg,p.Ser72Arg,c.216C>G,missense_variant,Conflicting interpretations of pathogenicity,182123,,5,1460606,0.0000034232366565658363,0,0,amr,0.00004357999999999998,24.3,0.570,0.0900,-0.140,1.00,0.00,0.511,0,33468,0,0,5,44720,0,0,0,26122,0,0,0,39638,0,0,0,53122,0,0,0,5764,0,0,0,1111186,0,0,,,,,0,86234,0,0,0,60352,0,0 -17-43104956-C-A,17,43104956,rs1441240938,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg71Ser,p.Arg71Ser,c.213G>T,missense_variant,Uncertain significance,867971,,1,832054,0.0000012018450725553871,0,0,,,33.0,0.718,0.740,-0.470,0.584,0.00,0.230,0,15768,0,0,0,984,0,0,0,5148,0,0,0,3618,0,0,0,274,0,0,0,1618,0,0,1,760956,0,0,,,,,0,16438,0,0,0,27250,0,0 -17-43104959-G-T,17,43104959,rs80358119,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-3C>A,,c.213-3C>A,splice_region_variant,not provided,865564,,1,1459530,6.851520695018259e-7,0,0,,,23.5,,0.740,-0.470,5.78,,,0,33442,0,0,0,44718,0,0,0,26120,0,0,0,39626,0,0,0,53056,0,0,0,5764,0,0,1,1110280,0,0,,,,,0,86212,0,0,0,60312,0,0 -17-43104965-A-C,17,43104965,rs2054700511,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-9T>G,,c.213-9T>G,intron_variant,Likely benign,867963,,1,628110,0.0000015920778207638789,0,0,,,23.1,,0.170,-0.270,0.805,,,1,17684,0,0,0,43734,0,0,0,20974,0,0,0,36002,0,0,0,52690,0,0,0,4144,0,0,0,350010,0,0,,,,,0,69792,0,0,0,33080,0,0 -17-43104967-A-C,17,43104967,rs80358061,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-11T>G,,c.213-11T>G,intron_variant,Pathogenic,37449,,9,1606904,0.000005600832408158795,0,0,nfe,0.00000293,28.9,,0.710,-0.480,3.38,,,1,74806,0,0,0,59980,0,0,0,29544,0,0,0,44802,0,0,0,63554,0,0,0,6076,0,0,8,1174044,0,0,0,912,0,0,0,90922,0,0,0,62264,0,0 -17-43104970-G-C,17,43104970,rs1060502337,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-14C>G,,c.213-14C>G,intron_variant,Uncertain significance,409321,,1,823028,0.000001215025491234806,0,0,,,22.2,,0.690,-0.460,2.11,,,0,15572,0,0,0,968,0,0,0,5082,0,0,0,3588,0,0,0,274,0,0,0,1606,0,0,1,752756,0,0,,,,,0,16214,0,0,0,26968,0,0 -17-43104973-T-C,17,43104973,rs2154552811,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-17A>G,,c.213-17A>G,intron_variant,,,,1,813586,0.000001229126361564727,0,0,,,13.8,,0.0900,-0.0900,1.23,,,0,15384,0,0,0,950,0,0,0,5024,0,0,0,3560,0,0,0,274,0,0,0,1592,0,0,1,744152,0,0,,,,,0,16028,0,0,0,26622,0,0 -17-43104979-A-T,17,43104979,rs2154552831,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-23T>A,,c.213-23T>A,intron_variant,,,,1,1426210,7.011590158532053e-7,0,0,,,10.3,,0.0700,-0.0600,0.628,,,0,32736,0,0,0,44668,0,0,0,25902,0,0,1,39472,0,0,0,52676,0,0,0,5708,0,0,0,1080372,0,0,,,,,0,85464,0,0,0,59212,0,0 -17-43104982-C-T,17,43104982,rs748319423,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-26G>A,,c.213-26G>A,intron_variant,,,,4,1572672,0.0000025434419891751108,0,0,nfe,8.2e-7,0.190,,0.0500,-0.0700,-1.43,,,0,74064,0,0,0,59924,0,0,0,29328,0,0,0,44634,0,0,0,63150,0,0,0,6014,0,0,4,1143362,0,0,0,910,0,0,0,90186,0,0,0,61100,0,0 -17-43104983-A-C,17,43104983,rs772130013,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-27T>G,,c.213-27T>G,intron_variant,,,,4,1410412,0.0000028360507426198867,0,0,nfe,8.8e-7,10.6,,0.240,-0.250,1.22,,,0,32414,0,0,0,44652,0,0,0,25798,0,0,0,39392,0,0,0,52532,0,0,0,5672,0,0,4,1066092,0,0,,,,,0,85154,0,0,0,58706,0,0 -17-43104986-C-G,17,43104986,rs2054701789,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-30G>C,,c.213-30G>C,intron_variant,,,,1,1405428,7.115270223732557e-7,0,0,,,9.10,,0.0300,-0.120,0.0980,,,1,32334,0,0,0,44638,0,0,0,25772,0,0,0,39362,0,0,0,52370,0,0,0,5662,0,0,0,1061686,0,0,,,,,0,85042,0,0,0,58562,0,0 -17-43104987-A-G,17,43104987,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-31T>C,,c.213-31T>C,intron_variant,,,,3,1397778,0.00000214626356975142,0,0,sas,0.00000391,22.6,,0.330,-0.370,1.84,,,0,32188,0,0,0,44626,0,0,0,25726,0,0,0,39344,0,0,0,52380,0,0,0,5658,0,0,1,1054708,0,0,,,,,2,84868,0,0,0,58280,0,0 -17-43104988-G-A,17,43104988,rs2154552856,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-32C>T,,c.213-32C>T,intron_variant,,,,1,1394852,7.169219386716297e-7,0,0,,,18.1,,0.0800,-0.170,1.78,,,0,32178,0,0,0,44622,0,0,0,25712,0,0,0,39300,0,0,0,52240,0,0,0,5650,0,0,0,1052130,0,0,,,,,0,84820,0,0,1,58200,0,0 -17-43104992-G-A,17,43104992,rs2054701925,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-36C>T,,c.213-36C>T,intron_variant,,,,2,1531510,0.0000013059007123688387,0,0,,,7.84,,0.00,0.0100,0.0580,,,0,73226,0,0,0,59850,0,0,0,29118,0,0,0,44440,0,0,0,62732,0,0,0,5944,0,0,2,1106214,0,0,0,912,0,0,0,89292,0,0,0,59782,0,0 -17-43104994-G-T,17,43104994,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-38C>A,,c.213-38C>A,intron_variant,,,,2,1362922,0.0000014674354071619653,0,0,,,14.0,,0.00,-0.0100,0.259,,,0,31416,0,0,0,44572,0,0,0,25510,0,0,0,39156,0,0,0,52002,0,0,0,5590,0,0,1,1023434,0,0,,,,,1,84088,0,0,0,57154,0,0 -17-43104996-T-G,17,43104996,rs1386263550,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-40A>C,,c.213-40A>C,intron_variant,,,,1,1350478,7.404785564814828e-7,0,0,,,14.5,,0.0100,-0.0500,1.14,,,0,31184,0,0,0,44552,0,0,0,25452,0,0,0,39108,0,0,0,51884,0,0,0,5558,0,0,1,1012042,0,0,,,,,0,83884,0,0,0,56814,0,0 -17-43104999-T-A,17,43104999,rs2154552892,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-43A>T,,c.213-43A>T,intron_variant,,,,8,1353432,0.000005910899106863145,0,0,nfe,0.0000033900000000000006,9.27,,0.00,0.0100,-0.244,,,0,31260,0,0,0,44554,0,0,0,25464,0,0,0,39108,0,0,0,51776,0,0,0,5558,0,0,8,1014840,0,0,,,,,0,83924,0,0,0,56948,0,0 -17-43105000-C-T,17,43105000,rs374257806,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-44G>A,,c.213-44G>A,intron_variant,Likely benign,1325677,,17,1347842,0.00001261275431393294,0,0,eas,0.00002035,10.8,,0.0200,0.0200,0.384,,,0,31130,0,0,0,44550,0,0,0,25434,0,0,3,39074,0,0,0,51634,0,0,0,5546,0,0,0,1009978,0,0,,,,,1,83760,0,0,13,56736,0,0 -17-43105003-C-T,17,43105003,rs770872146,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-47G>A,,c.213-47G>A,intron_variant,,,,6,1453428,0.000004128171467730084,0,0,amr,0.00000556,8.83,,0.00,0.0400,0.895,,,0,71610,0,0,2,59678,0,0,0,28634,0,0,0,44062,0,0,0,62000,0,0,0,5768,0,0,4,1035834,0,0,0,912,0,0,0,87686,0,0,0,57244,0,0 -17-43105004-C-G,17,43105004,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-48G>C,,c.213-48G>C,intron_variant,,,,1,1273672,7.851314938225854e-7,0,0,,,6.21,,0.00,0.0500,1.63,,,0,29638,0,0,0,44248,0,0,0,24980,0,0,0,38750,0,0,0,51266,0,0,0,5402,0,0,1,942958,0,0,,,,,0,82138,0,0,0,54292,0,0 -17-43105004-C-T,17,43105004,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-48G>A,,c.213-48G>A,intron_variant,,,,1,1273672,7.851314938225854e-7,0,0,,,6.90,,0.00,0.0500,1.63,,,0,29638,0,0,0,44248,0,0,0,24980,0,0,0,38750,0,0,0,51266,0,0,0,5402,0,0,1,942958,0,0,,,,,0,82138,0,0,0,54292,0,0 -17-43105005-T-C,17,43105005,rs2154552905,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-49A>G,,c.213-49A>G,intron_variant,,,,1,625154,0.0000015996058571168063,0,0,,,16.1,,0.00,-0.0500,2.82,,,0,17594,0,0,0,43514,0,0,0,20938,0,0,0,35960,0,0,0,51004,0,0,0,4128,0,0,0,349516,0,0,,,,,1,69504,0,0,0,32996,0,0 -17-43105008-T-C,17,43105008,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-52A>G,,c.213-52A>G,intron_variant,,,,2,1252636,0.0000015966330202868191,0,0,,,14.7,,0.0300,-0.0200,0.00800,,,0,29172,0,0,0,44172,0,0,0,24862,0,0,0,38646,0,0,1,50800,0,0,0,5370,0,0,1,924346,0,0,,,,,0,81650,0,0,0,53618,0,0 -17-43105011-G-T,17,43105011,rs1185759297,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.213-55C>A,,c.213-55C>A,intron_variant,,,,1,152048,0.000006576870461959381,0,0,,,5.49,,0.00,0.0300,1.24,,,1,41414,0,0,0,15250,0,0,0,3464,0,0,0,5188,0,0,0,10586,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 -17-43105012-G-A,17,43105012,rs2054702939,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-56C>T,,c.213-56C>T,intron_variant,,,,1,1240414,8.061824519878041e-7,0,0,,,5.08,,0.00,0.0300,0.221,,,0,28988,0,0,0,44124,0,0,0,24788,0,0,0,38568,0,0,0,50436,0,0,0,5326,0,0,1,913764,0,0,,,,,0,81260,0,0,0,53160,0,0 -17-43105014-C-G,17,43105014,rs2154552926,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-58G>C,,c.213-58G>C,intron_variant,,,,7,1226714,0.000005706301550320613,0,0,nfe,0.0000032300000000000004,4.23,,0.00,-0.0300,0.0300,,,0,28684,0,0,0,43884,0,0,0,24646,0,0,0,38494,0,0,0,50196,0,0,0,5316,0,0,7,901916,0,0,,,,,0,80866,0,0,0,52712,0,0 -17-43105016-C-A,17,43105016,rs2154552931,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-60G>T,,c.213-60G>T,intron_variant,,,,12,1208314,0.00000993119338185273,1,0,sas,0.00007615999999999999,5.25,,0.0800,0.0400,-0.209,,,0,28284,0,0,0,43812,0,0,0,24566,0,0,0,38402,0,0,0,49932,0,0,0,5262,0,0,1,885444,0,0,,,,,11,80444,1,0,0,52168,0,0 -17-43105017-T-A,17,43105017,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-61A>T,,c.213-61A>T,intron_variant,,,,1,1200038,8.333069452800662e-7,0,0,,,12.4,,0.150,0.0500,0.186,,,0,28118,0,0,0,43780,0,0,0,24508,0,0,0,38398,0,0,0,49864,0,0,0,5234,0,0,1,877986,0,0,,,,,0,80266,0,0,0,51884,0,0 -17-43105017-T-C,17,43105017,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-61A>G,,c.213-61A>G,intron_variant,,,,1,1200040,8.333055564814506e-7,0,0,,,12.0,,0.0300,-0.0300,0.186,,,1,28118,0,0,0,43780,0,0,0,24508,0,0,0,38398,0,0,0,49864,0,0,0,5234,0,0,0,877988,0,0,,,,,0,80266,0,0,0,51884,0,0 -17-43105024-A-C,17,43105024,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-68T>G,,c.213-68T>G,intron_variant,,,,2,1116920,0.0000017906385417039716,0,0,,,13.0,,0.00,0.0100,0.452,,,0,26534,0,0,0,43364,0,0,0,23944,0,0,0,38034,0,0,0,48794,0,0,0,5056,0,0,0,803782,0,0,,,,,1,78338,0,0,1,49074,0,0 -17-43105025-G-A,17,43105025,rs2154552947,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-69C>T,,c.213-69C>T,intron_variant,,,,3,1093228,0.0000027441668160713043,0,0,,,3.85,,0.0100,0.0100,0.175,,,0,26040,0,0,0,43146,0,0,0,23732,0,0,0,37856,0,0,0,48208,0,0,1,4980,0,0,1,783364,0,0,,,,,1,77706,0,0,0,48196,0,0 -17-43105025-GA-G,17,43105025,rs2054703180,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-70del,,c.213-70del,intron_variant,,,,4,1245322,0.000003212020666140966,0,0,nfe,0.0000011000000000000003,7.10,,0.00,-0.0100,0.175,,,0,67462,0,0,0,58414,0,0,0,27200,0,0,0,43056,0,0,0,58808,0,0,0,5296,0,0,4,851366,0,0,0,910,0,0,0,82526,0,0,0,50284,0,0 -17-43105027-A-C,17,43105027,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-71T>G,,c.213-71T>G,intron_variant,,,,2,614744,0.0000032533867756334346,0,0,sas,0.00000485,15.7,,0.00,0.0100,1.18,,,0,17218,0,0,0,42372,0,0,0,20702,0,0,0,35812,0,0,0,47222,0,0,0,3954,0,0,0,346382,0,0,,,,,2,68450,0,0,0,32632,0,0 -17-43105029-A-G,17,43105029,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-73T>C,,c.213-73T>C,intron_variant,,,,1,614734,0.0000016267198495609483,0,0,,,16.2,,0.00,-0.0400,2.78,,,0,17220,0,0,1,42394,0,0,0,20694,0,0,0,35806,0,0,0,47190,0,0,0,3954,0,0,0,346380,0,0,,,,,0,68450,0,0,0,32646,0,0 -17-43105030-G-C,17,43105030,rs1472115280,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-74C>G,,c.213-74C>G,intron_variant,,,,4,1221308,0.000003275177105201964,0,0,nfe,4e-7,9.57,,0.00,0.0200,0.755,,,1,66960,0,0,0,58118,0,0,0,26984,0,0,0,42882,0,0,0,57874,0,0,0,5190,0,0,2,831010,0,0,0,912,0,0,0,81916,0,0,1,49462,0,0 -17-43105030-G-T,17,43105030,rs1472115280,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-74C>A,,c.213-74C>A,intron_variant,,,,1,1069200,9.352787130564908e-7,0,0,,,9.60,,0.00,0.0100,0.755,,,0,25516,0,0,0,42872,0,0,0,23516,0,0,0,37690,0,0,0,47268,0,0,0,4874,0,0,1,763000,0,0,,,,,0,77092,0,0,0,47372,0,0 -17-43105030-G-A,17,43105030,rs1472115280,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-74C>T,,c.213-74C>T,intron_variant,,,,2,1069202,0.0000018705539271344423,0,0,afr,0.00001297,9.81,,0.00,0.0100,0.755,,,2,25516,0,0,0,42872,0,0,0,23516,0,0,0,37690,0,0,0,47268,0,0,0,4874,0,0,0,763002,0,0,,,,,0,77092,0,0,0,47372,0,0 -17-43106381-G-A,17,43106381,rs1215368754,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+75C>T,,c.212+75C>T,intron_variant,,,,11,937884,0.000011728529327720699,0,0,nfe,0.000007060000000000001,3.87,,0.00,0.00,0.197,,,0,60028,0,0,1,45224,0,0,0,23320,0,0,1,39740,0,0,0,59750,0,0,0,3128,0,0,9,599590,0,0,0,910,0,0,0,66884,0,0,0,39310,0,0 -17-43106381-G-T,17,43106381,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+75C>A,,c.212+75C>A,intron_variant,,,,2,785766,0.00000254528701929073,0,0,nfe,6.300000000000001e-7,3.36,,0.00,-0.0100,0.197,,,0,18618,0,0,0,29962,0,0,0,19848,0,0,0,34532,0,0,0,49152,0,0,0,2812,0,0,2,531568,0,0,,,,,0,62056,0,0,0,37218,0,0 -17-43106382-CTA-C,17,43106382,rs1312796367,CTA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+72_212+73del,,c.212+72_212+73del,intron_variant,,,,6,957202,0.000006268269393503148,0,0,afr,0.000022430000000000004,6.66,,0.00,0.0100,0.936,,,4,60458,0,0,0,46556,0,0,0,23652,0,0,0,40098,0,0,0,60236,0,0,0,3184,0,0,2,614026,0,0,0,908,0,0,0,68012,0,0,0,40072,0,0 -17-43106382-C-T,17,43106382,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+74G>A,,c.212+74G>A,intron_variant,,,,1,805100,0.0000012420817289777667,0,0,,,6.89,,0.00,-0.0100,0.936,,,0,19046,0,0,0,31296,0,0,0,20180,0,0,0,34896,0,0,0,49644,0,0,0,2870,0,0,0,546004,0,0,,,,,1,63182,0,0,0,37982,0,0 -17-43106382-CTATGT-C,17,43106382,,CTATGT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+69_212+73del,,c.212+69_212+73del,intron_variant,,,,4,805100,0.000004968326915911067,0,0,sas,0.000020770000000000003,7.51,,0.00,0.0100,0.936,,,0,19046,0,0,0,31296,0,0,0,20180,0,0,0,34896,0,0,0,49644,0,0,0,2870,0,0,0,546004,0,0,,,,,4,63182,0,0,0,37982,0,0 -17-43106390-T-C,17,43106390,rs376994550,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+66A>G,,c.212+66A>G,intron_variant,,,,13,1056018,0.000012310396224306783,0,0,afr,0.00004131999999999998,10.1,,0.00,0.0100,-0.230,,,6,62666,0,0,1,49056,0,0,0,24554,0,0,0,41266,0,0,0,61324,0,0,0,3500,0,0,0,698108,0,0,0,910,0,0,1,71248,0,0,5,43386,0,0 -17-43106390-T-G,17,43106390,rs376994550,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+66A>C,,c.212+66A>C,intron_variant,,,,2,1055900,0.00000189411876124633,0,0,,,9.81,,0.00,0.00,-0.230,,,2,62544,0,0,0,49036,0,0,0,24554,0,0,0,41278,0,0,0,61324,0,0,0,3522,0,0,0,698116,0,0,0,910,0,0,0,71252,0,0,0,43364,0,0 -17-43106393-A-T,17,43106393,rs2054762963,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.212+63T>A,,c.212+63T>A,intron_variant,,,,1,152208,0.000006569956901082729,0,0,,,15.7,,0.00,-0.0100,-0.262,,,1,41456,0,0,0,15258,0,0,0,3472,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43106397-A-T,17,43106397,rs547482120,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+59T>A,,c.212+59T>A,intron_variant,,,,22,1147500,0.00001917211328976035,0,0,sas,0.00020098999999999998,14.0,,0.00,-0.0100,1.75,,,0,64504,0,0,0,50570,0,0,0,25226,0,0,0,42050,0,0,0,62038,0,0,0,3788,0,0,0,777926,0,0,0,912,0,0,22,74000,0,0,0,46486,0,0 -17-43106400-T-A,17,43106400,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+56A>T,,c.212+56A>T,intron_variant,,,,2,583518,0.0000034274863843103384,0,0,nfe,0.000001,15.8,,0.00,0.0100,0.992,,,0,15606,0,0,0,35062,0,0,0,19186,0,0,0,35260,0,0,0,51468,0,0,0,2714,0,0,2,331774,0,0,,,,,0,61538,0,0,0,30910,0,0 -17-43106404-C-T,17,43106404,rs2154554469,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+52G>A,,c.212+52G>A,intron_variant,,,,1,1073492,9.315393128220798e-7,0,0,,,13.0,,0.00,0.00,0.445,,,0,24622,0,0,0,36312,0,0,0,22304,0,0,0,37418,0,0,0,51816,0,0,0,3744,0,0,1,779232,0,0,,,,,0,71058,0,0,0,46986,0,0 -17-43106410-C-A,17,43106410,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+46G>T,,c.212+46G>T,intron_variant,,,,1,1099822,9.092380403374364e-7,0,0,,,8.53,,0.00,0.00,0.534,,,0,25244,0,0,0,37758,0,0,0,22696,0,0,0,37708,0,0,0,52210,0,0,0,3954,0,0,0,799820,0,0,,,,,1,72440,0,0,0,47992,0,0 -17-43106410-C-T,17,43106410,rs2154554478,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+46G>A,,c.212+46G>A,intron_variant,,,,1,1099820,9.092396937680712e-7,0,0,,,9.08,,0.00,0.0100,0.534,,,0,25244,0,0,0,37758,0,0,0,22696,0,0,0,37708,0,0,0,52210,0,0,0,3954,0,0,1,799820,0,0,,,,,0,72440,0,0,0,47990,0,0 -17-43106412-T-G,17,43106412,rs1400943682,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+44A>C,,c.212+44A>C,intron_variant,,,,3,754676,0.000003975215854220884,0,0,amr,0.00000614,13.7,,0.00,0.0100,1.28,,,0,58018,0,0,2,53992,0,0,0,23326,0,0,0,40884,0,0,0,62912,0,0,0,3364,0,0,0,408746,0,0,0,912,0,0,1,68594,0,0,0,33928,0,0 -17-43106414-C-T,17,43106414,rs2154554491,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+42G>A,,c.212+42G>A,intron_variant,,,,1,1133858,8.819446526813763e-7,0,0,,,5.05,,0.00,-0.0100,0.770,,,0,26392,0,0,0,40526,0,0,0,23388,0,0,0,37904,0,0,0,52554,0,0,0,4158,0,0,1,825138,0,0,,,,,0,74496,0,0,0,49302,0,0 -17-43106415-T-A,17,43106415,rs1285470228,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+41A>T,,c.212+41A>T,intron_variant,,,,3,1294158,0.0000023181095353117626,0,0,nfe,8.9e-7,8.22,,0.00,0.00,0.715,,,0,68066,0,0,0,56134,0,0,0,26960,0,0,0,43210,0,0,0,63248,0,0,0,4522,0,0,3,899688,0,0,0,912,0,0,0,79722,0,0,0,51696,0,0 -17-43106418-G-T,17,43106418,rs776607293,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+38C>A,,c.212+38C>A,intron_variant,,,,1,1158832,8.629378546674583e-7,0,0,,,3.86,,0.00,0.00,1.10,,,0,26980,0,0,0,41280,0,0,0,23638,0,0,0,38014,0,0,0,52660,0,0,0,4308,0,0,0,846528,0,0,,,,,1,75276,0,0,0,50148,0,0 -17-43106419-G-A,17,43106419,rs777885366,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+37C>T,,c.212+37C>T,intron_variant,,,,21,1197490,0.00001753668089086339,0,0,nfe,0.00001275,6.02,,0.00,0.00,0.770,,,0,27658,0,0,0,41388,0,0,0,23858,0,0,0,38170,0,0,0,52694,0,0,0,4430,0,0,18,881864,0,0,,,,,0,76084,0,0,3,51344,0,0 -17-43106420-T-C,17,43106420,rs368950467,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.212+36A>G,,c.212+36A>G,intron_variant,,,,1,152248,0.000006568230781356734,0,0,,,6.14,,0.0200,0.0100,0.555,,,0,41470,0,0,0,15274,0,0,0,3472,0,0,0,5206,0,0,0,10622,0,0,0,314,0,0,1,68048,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43106422-G-T,17,43106422,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+34C>A,,c.212+34C>A,intron_variant,,,,2,1212710,0.0000016491989016335315,0,0,nfe,3.7000000000000006e-7,4.43,,0.00,0.00,1.26,,,0,28076,0,0,0,41916,0,0,0,24058,0,0,0,38260,0,0,0,52748,0,0,0,4472,0,0,2,894482,0,0,,,,,0,76842,0,0,0,51856,0,0 -17-43106427-C-T,17,43106427,rs2154554514,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+29G>A,,c.212+29G>A,intron_variant,,,,1,678908,0.0000014729536255280538,0,0,,,3.38,,0.0200,-0.0400,1.25,,,0,12546,0,0,0,768,0,0,0,4220,0,0,0,2900,0,0,0,230,0,0,0,1360,0,0,0,621240,0,0,,,,,0,13362,0,0,1,22282,0,0 -17-43106431-C-G,17,43106431,rs1597900076,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+25G>C,,c.212+25G>C,intron_variant,,,,1,1320978,7.570148783704195e-7,0,0,,,4.80,,0.00,0.0100,0.637,,,0,30508,0,0,0,43650,0,0,0,25020,0,0,0,38826,0,0,0,52986,0,0,0,4860,0,0,1,988946,0,0,,,,,0,80586,0,0,0,55596,0,0 -17-43106432-T-A,17,43106432,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+24A>T,,c.212+24A>T,intron_variant,,,,1,1326248,7.540067920931831e-7,0,0,,,8.54,,0.00,0.00,-0.199,,,0,30622,0,0,0,43776,0,0,0,25092,0,0,0,38868,0,0,0,53010,0,0,0,4888,0,0,1,993166,0,0,,,,,0,81026,0,0,0,55800,0,0 -17-43106433-A-T,17,43106433,rs8176128,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+23T>A,,c.212+23T>A,intron_variant,Benign,188404,,2754,1481922,0.0018583974055314653,35,0,afr,0.03208542,6.92,,0.00,-0.0200,2.48,,,2399,72274,33,0,142,59086,2,0,2,28582,0,0,0,44078,0,0,0,63656,0,0,9,5196,0,0,56,1064194,0,0,0,912,0,0,6,85936,0,0,140,58008,0,0 -17-43106434-G-C,17,43106434,rs2154554527,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+22C>G,,c.212+22C>G,intron_variant,,,,1,1329564,7.521262609396765e-7,0,0,,,7.46,,0.0300,0.0300,0.754,,,1,30728,0,0,0,43746,0,0,0,25074,0,0,0,38862,0,0,0,52994,0,0,0,4898,0,0,0,996566,0,0,,,,,0,80852,0,0,0,55844,0,0 -17-43106435-C-T,17,43106435,rs80358147,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+21G>A,,c.212+21G>A,intron_variant,Likely benign,125612,,27,1492232,0.000018093701247527193,0,0,sas,0.00001584,6.96,,0.00,0.0100,2.43,,,0,72372,0,0,3,59090,0,0,17,28652,0,0,0,44152,0,0,0,63616,0,0,0,5264,0,0,1,1073676,0,0,0,910,0,0,4,86128,0,0,2,58372,0,0 -17-43106439-A-G,17,43106439,rs369461674,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+17T>C,,c.212+17T>C,intron_variant,Likely benign,221064,,6,1373948,0.00000436697749842061,0,0,nfe,0.0000014099999999999998,11.3,,0.00,-0.0200,-0.443,,,1,31540,0,0,0,43964,0,0,0,25412,0,0,0,39126,0,0,0,53098,0,0,0,5058,0,0,5,1036250,0,0,,,,,0,82110,0,0,0,57390,0,0 -17-43106440-T-C,17,43106440,rs1057522049,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+16A>G,,c.212+16A>G,intron_variant,Likely benign,384783,,15,621270,0.00002414409194070211,0,0,sas,0.00009121999999999998,10.9,,0.110,-0.100,0.157,,,0,17530,0,0,0,43106,0,0,0,20726,0,0,0,35882,0,0,0,52852,0,0,0,3612,0,0,4,347412,0,0,,,,,11,67448,0,0,0,32702,0,0 -17-43106441-T-C,17,43106441,rs587780797,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+15A>G,,c.212+15A>G,intron_variant,Likely benign,136081,,1,1378380,7.254893425615578e-7,0,0,,,10.8,,0.00,-0.0400,0.126,,,0,31664,0,0,0,43988,0,0,0,25430,0,0,0,39142,0,0,0,53102,0,0,0,5104,0,0,1,1040152,0,0,,,,,0,82256,0,0,0,57542,0,0 -17-43106443-C-T,17,43106443,rs752088834,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+13G>A,,c.212+13G>A,intron_variant,Likely benign,382526,,3,1393444,0.000002152939048860234,0,0,sas,0.00000402,8.20,,0.00,0.0100,-0.530,,,1,31936,0,0,0,44028,0,0,0,25486,0,0,0,39208,0,0,0,53108,0,0,0,5160,0,0,0,1053966,0,0,,,,,2,82506,0,0,0,58046,0,0 -17-43106446-A-C,17,43106446,rs80358174,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+10T>G,,c.212+10T>G,intron_variant,Likely benign,125610,,2,1403866,0.0000014246373941672496,0,0,,,15.4,,0.0900,-0.0700,0.828,,,0,32170,0,0,1,44042,0,0,0,25630,0,0,0,39256,0,0,0,53150,0,0,0,5230,0,0,1,1063142,0,0,,,,,0,82842,0,0,0,58404,0,0 -17-43106449-T-C,17,43106449,rs762526216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+7A>G,,c.212+7A>G,splice_region_variant,Likely benign,868795,,1,1410206,7.09116256773833e-7,0,0,,,10.3,,0.0900,-0.0700,0.00,,,0,32318,0,0,0,44256,0,0,0,25736,0,0,0,39298,0,0,0,53228,0,0,0,5282,0,0,0,1067816,0,0,,,,,1,83620,0,0,0,58652,0,0 -17-43106450-A-G,17,43106450,rs2054767256,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+6T>C,,c.212+6T>C,intron_variant,Likely benign,868792,,2,1413934,0.0000014144931800211326,0,0,nfe,3.1e-7,11.3,,0.100,-0.0800,1.01,,,0,32394,0,0,0,44296,0,0,0,25756,0,0,0,39324,0,0,0,53236,0,0,0,5294,0,0,2,1071094,0,0,,,,,0,83764,0,0,0,58776,0,0 -17-43106451-T-A,17,43106451,rs2054767462,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+5A>T,,c.212+5A>T,intron_variant,Conflicting interpretations of pathogenicity,868790,,1,793740,0.0000012598583919167486,0,0,,,8.00,,0.0400,0.0300,-0.524,,,1,14882,0,0,0,926,0,0,0,4944,0,0,0,3418,0,0,0,268,0,0,0,1554,0,0,0,726114,0,0,,,,,0,15606,0,0,0,26028,0,0 -17-43106452-A-G,17,43106452,rs398122652,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+4T>C,,c.212+4T>C,intron_variant,Benign/Likely benign,183921,,3,1420212,0.000002112360689812507,0,0,,,8.20,,0.00,0.0200,-0.403,,,0,32536,0,0,0,44294,0,0,0,25806,0,0,0,39348,0,0,0,53242,0,0,2,5320,0,0,0,1076820,0,0,,,,,0,83902,0,0,1,58944,0,0 -17-43106453-T-C,17,43106453,rs80358083,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+3A>G,,c.212+3A>G,intron_variant,Pathogenic,54467,,2,1574274,0.00000127042687613465,0,0,,,23.0,,0.630,-0.680,1.52,,,0,74054,0,0,0,59566,0,0,0,29282,0,0,0,44576,0,0,0,63868,0,0,0,5644,0,0,2,1146498,0,0,0,912,0,0,0,88788,0,0,0,61086,0,0 -17-43106455-C-A,17,43106455,rs80358042,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+1G>T,,c.212+1G>T,splice_donor_variant,Pathogenic,54465,,1,1423700,7.023951675212474e-7,0,0,,,33.0,,0.650,-0.760,8.89,,,0,32628,0,0,0,44444,0,0,0,25862,0,0,0,39376,0,0,0,53272,0,0,0,5352,0,0,1,1079418,0,0,,,,,0,84258,0,0,0,59090,0,0 -17-43106455-C-T,17,43106455,rs80358042,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+1G>A,,c.212+1G>A,splice_donor_variant,Pathogenic,37446,,1,1423700,7.023951675212474e-7,0,0,,,33.0,,0.650,-0.760,8.89,,,0,32628,0,0,1,44444,0,0,0,25862,0,0,0,39376,0,0,0,53272,0,0,0,5352,0,0,0,1079418,0,0,,,,,0,84258,0,0,0,59090,0,0 -17-43106457-T-C,17,43106457,rs80357382,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg71Gly,p.Arg71Gly,c.211A>G,missense_variant,Pathogenic,17693,,2,1427816,0.0000014007407116883409,0,0,nfe,3.1e-7,34.0,0.866,0.640,-0.690,6.35,0.00,0.444,0,32720,0,0,0,44476,0,0,0,25902,0,0,0,39408,0,0,0,53294,0,0,0,5380,0,0,2,1082928,0,0,,,,,0,84492,0,0,0,59216,0,0 -17-43106460-T-A,17,43106460,rs2054770550,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys70Ter,p.Lys70Ter,c.208A>T,stop_gained,not provided,868787,,1,1433320,6.976809086596155e-7,0,0,,,37.0,,0.150,-0.140,6.35,,,0,32832,0,0,0,44516,0,0,0,25932,0,0,0,39440,0,0,0,53306,0,0,0,5408,0,0,1,1087818,0,0,,,,,0,84656,0,0,0,59412,0,0 -17-43106461-G-C,17,43106461,rs1567812175,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr69Thr,p.Thr69Thr,c.207C>G,synonymous_variant,Likely benign,628390,,1,152050,0.000006576783952647156,0,0,,,9.78,,0.00,0.0400,4.16,,,0,41394,0,0,0,15248,0,0,0,3468,0,0,0,5194,0,0,0,10578,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,1,4832,0,0,0,2088,0,0 -17-43106462-G-A,17,43106462,rs273898675,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr69Ile,p.Thr69Ile,c.206C>T,missense_variant,Uncertain significance,441428,,2,1589614,0.0000012581670770388284,0,0,,,26.0,0.642,0.0400,0.0600,8.78,0.00,0.806,0,74312,0,0,1,59778,0,0,0,29408,0,0,0,44656,0,0,0,63850,0,0,0,5744,0,0,1,1159764,0,0,0,912,0,0,0,89584,0,0,0,61606,0,0 -17-43106464-T-A,17,43106464,rs1555597192,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Ile,p.Ile68Ile,c.204A>T,synonymous_variant,Likely benign,485377,,1,1439812,6.94535119862871e-7,0,0,,,10.2,,0.00,0.0100,2.25,,,0,32990,0,0,0,44554,0,0,0,25960,0,0,0,39460,0,0,0,53312,0,0,0,5450,0,0,0,1093616,0,0,,,,,0,84888,0,0,1,59582,0,0 -17-43106465-A-G,17,43106465,rs80357116,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Thr,p.Ile68Thr,c.203T>C,missense_variant,Uncertain significance,867942,,1,814748,0.0000012273733718892221,0,0,,,25.8,0.776,0.00,0.0300,6.32,0.00,0.444,0,15346,0,0,0,956,0,0,0,5050,0,0,0,3522,0,0,0,274,0,0,0,1590,0,0,0,745320,0,0,,,,,1,16024,0,0,0,26666,0,0 -17-43106466-T-C,17,43106466,rs1555597195,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Val,p.Ile68Val,c.202A>G,missense_variant,Uncertain significance,479193,,4,1442860,0.000002772271738075766,0,0,nfe,8.500000000000001e-7,22.8,0.604,0.00,0.0100,3.74,0.320,0.344,0,33058,0,0,0,44582,0,0,0,25982,0,0,0,39484,0,0,0,53316,0,0,0,5466,0,0,4,1096230,0,0,,,,,0,85046,0,0,0,59696,0,0 -17-43106468-T-G,17,43106468,rs1060502331,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp67Ala,p.Asp67Ala,c.200A>C,missense_variant,Uncertain significance,867325,,1,152246,0.0000065683170658014006,0,0,,,20.4,0.580,0.00,0.0100,0.122,,,0,41474,0,0,0,15272,0,0,0,3470,0,0,1,5204,0,0,0,10624,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43106469-C-A,17,43106469,rs80357102,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp67Tyr,p.Asp67Tyr,c.199G>T,missense_variant,Benign,54431,,132,1596780,0.00008266636606169917,0,0,nfe,0.0000922,17.8,0.658,0.190,0.100,0.302,0.0900,0.240,1,74666,0,0,2,59860,0,0,0,29466,0,0,0,44696,0,0,0,63924,0,0,0,5778,0,0,126,1165696,0,0,0,912,0,0,0,89912,0,0,3,61870,0,0 -17-43106470-A-G,17,43106470,rs878854936,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn66Asn,p.Asn66Asn,c.198T>C,synonymous_variant,Likely benign,240778,,3,1445600,0.0000020752628666297733,0,0,eas,0.00002013,8.61,,0.00,0.0100,0.174,,,0,33096,0,0,0,44584,0,0,0,26004,0,0,3,39506,0,0,0,53316,0,0,0,5492,0,0,0,1098674,0,0,,,,,0,85120,0,0,0,59808,0,0 -17-43106470-A-T,17,43106470,rs878854936,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn66Lys,p.Asn66Lys,c.198T>A,missense_variant,Uncertain significance,820472,,5,1445600,0.000003458771444382955,0,0,nfe,0.0000013299999999999998,23.3,0.554,0.00,0.0100,0.174,0.00,0.715,0,33096,0,0,0,44584,0,0,0,26004,0,0,0,39506,0,0,0,53316,0,0,0,5492,0,0,5,1098674,0,0,,,,,0,85120,0,0,0,59808,0,0 -17-43106475-T-C,17,43106475,rs756948486,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys65Glu,p.Lys65Glu,c.193A>G,missense_variant,Uncertain significance,531303,,13,1448596,0.000008974206749155735,0,0,sas,0.00008975999999999998,27.7,0.670,0.00,0.0200,6.35,0.00,0.643,0,33168,0,0,0,44612,0,0,0,26030,0,0,0,39526,0,0,0,53340,0,0,0,5510,0,0,0,1101186,0,0,,,,,13,85334,0,0,0,59890,0,0 -17-43106477-C-T,17,43106477,rs55851803,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys64Tyr,p.Cys64Tyr,c.191G>A,missense_variant,Pathogenic,54400,,2,1449660,0.00000137963384517749,0,0,,,27.2,0.954,0.00,0.0300,8.89,0.00,0.972,0,33200,0,0,0,44632,0,0,0,26042,0,0,0,39538,0,0,0,53350,0,0,0,5514,0,0,1,1102046,0,0,,,,,0,85412,0,0,1,59926,0,0 -17-43106478-A-C,17,43106478,rs80357064,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys64Gly,p.Cys64Gly,c.190T>G,missense_variant,Pathogenic,17660,,3,1602342,0.000001872259480185878,0,0,afr,0.00001067,31.0,0.947,0.650,-0.750,6.32,0.00,0.958,3,74672,0,0,0,59920,0,0,0,29520,0,0,0,44742,0,0,0,63968,0,0,0,5844,0,0,0,1170428,0,0,0,912,0,0,0,90304,0,0,0,62032,0,0 -17-43106479-T-A,17,43106479,rs80356956,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu63Phe,p.Leu63Phe,c.189A>T,missense_variant,Conflicting interpretations of pathogenicity,54389,,5,1450476,0.0000034471442478193368,0,0,nfe,0.0000013299999999999998,23.8,0.613,0.00,-0.0500,3.58,0.00,0.972,0,33236,0,0,0,44646,0,0,0,26052,0,0,0,39536,0,0,0,53350,0,0,0,5524,0,0,5,1102684,0,0,,,,,0,85494,0,0,0,59954,0,0 -17-43106480-A-T,17,43106480,rs80357086,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu63Ter,p.Leu63Ter,c.188T>A,stop_gained,Pathogenic,54381,,5,779284,0.000006416146103346149,0,0,eas,0.00004764999999999997,36.0,,0.290,0.260,6.32,,,0,59120,0,0,0,58948,0,0,0,24414,0,0,5,41164,0,0,0,63702,0,0,0,4232,0,0,0,417614,0,0,0,912,0,0,0,74074,0,0,0,35104,0,0 -17-43106483-G-A,17,43106483,rs786202286,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro62Leu,p.Pro62Leu,c.185C>T,missense_variant,Uncertain significance,865233,,2,1451958,0.0000013774503119236232,0,0,,,27.0,0.919,0.130,-0.0600,8.78,0.00,0.990,0,33254,0,0,0,44662,0,0,0,26046,0,0,1,39556,0,0,0,53356,0,0,0,5528,0,0,1,1104026,0,0,,,,,0,85540,0,0,0,59990,0,0 -17-43106485-A-G,17,43106485,rs895070717,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys61Cys,p.Cys61Cys,c.183T>C,synonymous_variant,Likely benign,531482,,4,779404,0.000005132126599298952,0,0,nfe,0.0000019100000000000003,12.0,,0.00,0.0200,3.73,,,0,59112,0,0,0,58962,0,0,0,24416,0,0,0,41170,0,0,0,63700,0,0,0,4242,0,0,3,417658,0,0,0,912,0,0,0,74132,0,0,1,35100,0,0 -17-43106486-C-T,17,43106486,rs80357093,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys61Tyr,p.Cys61Tyr,c.182G>A,missense_variant,Pathogenic,54364,,2,1452504,0.0000013769325247985548,0,0,,,25.8,0.960,0.250,0.680,8.89,0.00,0.942,0,33282,0,0,0,44666,0,0,0,26052,0,0,0,39564,0,0,0,53352,0,0,0,5538,0,0,0,1104496,0,0,,,,,1,85550,0,0,1,60004,0,0 -17-43106487-A-C,17,43106487,rs28897672,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys61Gly,p.Cys61Gly,c.181T>G,missense_variant,Pathogenic,17661,,30,1604818,0.00001869370857006838,0,0,nfe,0.00001656,26.8,0.948,0.160,-0.110,6.32,0.00,0.0260,0,74730,0,0,0,59940,0,0,0,29524,0,0,0,44766,0,0,1,63978,0,0,0,5856,0,0,28,1172588,0,0,0,912,0,0,0,90418,0,0,1,62106,0,0 -17-43106489-T-G,17,43106489,rs373655067,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln60Pro,p.Gln60Pro,c.179A>C,missense_variant,not provided,867306,,2,779462,0.0000025658723581136733,0,0,,,26.0,0.693,0.100,0.110,3.72,0.00,0.0340,0,59112,0,0,0,58960,0,0,1,24416,0,0,0,41166,0,0,0,63706,0,0,0,4262,0,0,0,417688,0,0,0,912,0,0,0,74136,0,0,1,35104,0,0 -17-43106489-T-C,17,43106489,rs373655067,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln60Arg,p.Gln60Arg,c.179A>G,missense_variant,Uncertain significance,141093,,4,779462,0.0000051317447162273465,0,0,,,25.5,0.674,0.0600,0.0400,3.72,0.00,0.626,2,59112,0,0,1,58960,0,0,0,24416,0,0,0,41166,0,0,0,63706,0,0,0,4262,0,0,1,417688,0,0,0,912,0,0,0,74136,0,0,0,35104,0,0 -17-43106492-G-A,17,43106492,rs199522616,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser59Leu,p.Ser59Leu,c.176C>T,missense_variant,Conflicting interpretations of pathogenicity,820046,,7,1604856,0.000004361762052171659,0,0,nfe,0.00000248,24.0,0.660,0.00,-0.180,8.78,0.170,0.903,0,74806,0,0,0,59942,0,0,0,29518,0,0,0,44754,0,0,0,63962,0,0,0,5838,0,0,7,1172566,0,0,0,912,0,0,0,90444,0,0,0,62114,0,0 -17-43106493-A-C,17,43106493,rs2054783250,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser59Ala,p.Ser59Ala,c.175T>G,missense_variant,not provided,865225,,1,1452584,6.88428345624074e-7,0,0,,,20.2,0.556,0.0400,0.0200,2.92,0.240,0.699,0,33264,0,0,0,44676,0,0,0,26042,0,0,1,39572,0,0,0,53368,0,0,0,5556,0,0,0,1104452,0,0,,,,,0,85642,0,0,0,60012,0,0 -17-43106495-G-A,17,43106495,rs2054783819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro58Leu,p.Pro58Leu,c.173C>T,missense_variant,not provided,868244,,1,825102,0.000001211971368388393,0,0,,,22.6,0.731,0.210,-0.270,4.92,0.110,0.903,0,15598,0,0,0,974,0,0,0,5100,0,0,0,3598,0,0,0,276,0,0,0,1602,0,0,1,754668,0,0,,,,,0,16298,0,0,0,26988,0,0 -17-43106496-G-T,17,43106496,rs397508904,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro58Thr,p.Pro58Thr,c.172C>A,missense_variant,Conflicting interpretations of pathogenicity,182122,,4,1452216,0.0000027544111895200165,0,0,nfe,8.500000000000001e-7,22.8,0.641,0.100,0.0600,5.81,0.110,0.903,0,33254,0,0,0,44678,0,0,0,26044,0,0,0,39562,0,0,0,53366,0,0,0,5556,0,0,4,1104146,0,0,,,,,0,85616,0,0,0,59994,0,0 -17-43106496-G-C,17,43106496,rs397508904,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro58Ala,p.Pro58Ala,c.172C>G,missense_variant,Conflicting interpretations of pathogenicity,54337,,5,1604394,0.000003116441472605856,0,0,nfe,6.800000000000001e-7,23.9,0.696,0.0300,-0.0400,5.81,0.0900,0.760,1,74770,0,0,0,59936,0,0,0,29514,0,0,0,44754,0,0,0,63960,0,0,0,5850,0,0,3,1172154,0,0,0,906,0,0,0,90444,0,0,1,62106,0,0 -17-43106497-C-A,17,43106497,rs1057523606,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Gly,p.Gly57Gly,c.171G>T,synonymous_variant,Likely benign,389985,,1,627338,0.0000015940370262920468,0,0,,,7.78,,0.0200,-0.0600,0.319,,,0,17664,0,0,0,43700,0,0,0,20940,0,0,0,35970,0,0,0,53094,0,0,0,3954,0,0,1,349648,0,0,,,,,0,69344,0,0,0,33024,0,0 -17-43106498-C-T,17,43106498,rs1597900455,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Glu,p.Gly57Glu,c.170G>A,missense_variant,Uncertain significance,1778531,,1,1452238,6.885923657141598e-7,0,0,,,24.6,0.676,0.170,0.0600,7.00,0.00,0.867,0,33246,0,0,0,44672,0,0,0,26042,0,0,0,39566,0,0,0,53372,0,0,0,5548,0,0,0,1104216,0,0,,,,,1,85598,0,0,0,59978,0,0 -17-43106499-C-G,17,43106499,rs879255289,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly57Arg,p.Gly57Arg,c.169G>C,missense_variant,Uncertain significance,252391,,1,152122,0.000006573671132380589,0,0,,,24.9,0.604,0.200,0.100,7.02,,,0,41412,0,0,0,15262,0,0,0,3470,0,0,1,5208,0,0,0,10604,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 -17-43106499-C-T,17,43106499,rs879255289,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Arg,p.Gly57Arg,c.169G>A,missense_variant,Uncertain significance,482934,,1,1452258,6.885828826558367e-7,0,0,,,24.9,0.606,0.120,0.0600,7.02,0.00,0.915,0,33246,0,0,0,44664,0,0,0,26030,0,0,1,39560,0,0,0,53376,0,0,0,5544,0,0,0,1104232,0,0,,,,,0,85616,0,0,0,59990,0,0 -17-43106501-T-C,17,43106501,rs397508897,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys56Arg,p.Lys56Arg,c.167A>G,missense_variant,not provided,54324,,1,1451810,6.88795365784779e-7,0,0,,,23.0,0.630,0.0300,0.0300,2.33,0.0500,0.777,0,33248,0,0,0,44682,0,0,0,26036,0,0,0,39560,0,0,0,53370,0,0,0,5536,0,0,1,1103770,0,0,,,,,0,85618,0,0,0,59990,0,0 -17-43106502-T-C,17,43106502,rs2054785999,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys56Glu,p.Lys56Glu,c.166A>G,missense_variant,not provided,867294,,1,627396,0.000001593889664581859,0,0,,,27.1,0.648,0.0400,-0.0300,6.35,0.00,0.643,0,17672,0,0,0,43708,0,0,0,20946,0,0,0,35966,0,0,0,53098,0,0,0,3934,0,0,0,349714,0,0,,,,,1,69336,0,0,0,33022,0,0 -17-43106506-C-G,17,43106506,rs772226744,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54His,p.Gln54His,c.162G>C,missense_variant,Uncertain significance,865213,,1,1451140,6.891133867166504e-7,0,0,,,23.6,0.593,0.280,-0.330,5.96,0.0400,0.956,0,33234,0,0,0,44678,0,0,0,26034,0,0,0,39560,0,0,0,53370,0,0,0,5520,0,0,0,1103186,0,0,,,,,1,85594,0,0,0,59964,0,0 -17-43106507-T-C,17,43106507,rs397507189,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54Arg,p.Gln54Arg,c.161A>G,missense_variant,Uncertain significance,37422,,1,823798,0.000001213889812793913,0,0,,,25.2,0.616,0.0500,0.0700,6.35,0.0200,0.626,0,15558,0,0,0,974,0,0,0,5086,0,0,0,3590,0,0,0,276,0,0,0,1596,0,0,1,753490,0,0,,,,,0,16274,0,0,0,26954,0,0 -17-43106508-G-T,17,43106508,rs80356864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54Lys,p.Gln54Lys,c.160C>A,missense_variant,Uncertain significance,91559,,1,823286,0.0000012146447285633426,0,0,,,20.5,0.575,0.0400,0.0300,8.74,0.480,0.159,0,15550,0,0,0,974,0,0,0,5084,0,0,0,3588,0,0,0,276,0,0,0,1598,0,0,1,753034,0,0,,,,,0,16256,0,0,0,26926,0,0 -17-43106510-T-C,17,43106510,rs1438140067,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn53Ser,p.Asn53Ser,c.158A>G,missense_variant,Conflicting interpretations of pathogenicity,867899,,4,1449802,0.0000027589974355118835,0,0,sas,0.00000388,23.0,0.423,0.0700,-0.130,4.67,0.410,0.828,0,33206,0,0,0,44678,0,0,0,26026,0,0,0,39550,0,0,0,53376,0,0,0,5512,0,0,2,1101950,0,0,,,,,2,85560,0,0,0,59944,0,0 -17-43106512-G-A,17,43106512,rs2054789276,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu52Leu,p.Leu52Leu,c.156C>T,synonymous_variant,not provided,867894,,1,152120,0.000006573757559821194,0,0,,,13.6,,0.290,-0.360,0.571,,,0,41414,0,0,0,15258,0,0,0,3468,0,0,0,5204,0,0,0,10602,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43106512-G-T,17,43106512,rs2054789276,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu52Leu,p.Leu52Leu,c.156C>A,synonymous_variant,not provided,867284,,1,1449306,6.899854137083542e-7,0,0,,,11.2,,0.150,-0.190,0.571,,,0,33186,0,0,0,44680,0,0,0,26018,0,0,0,39542,0,0,0,53368,0,0,0,5506,0,0,0,1101552,0,0,,,,,1,85528,0,0,0,59926,0,0 -17-43106514-G-A,17,43106514,rs80357084,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu52Phe,p.Leu52Phe,c.154C>T,missense_variant,Conflicting interpretations of pathogenicity,37421,,104,1600984,0.00006496004956951475,1,0,eas,0.0019415499999999998,26.1,0.683,0.130,-0.180,5.77,0.00,0.985,0,74578,0,0,0,59936,0,0,0,29494,0,0,103,44742,1,0,0,63952,0,0,0,5824,0,0,1,1169194,0,0,0,912,0,0,0,90370,0,0,0,61982,0,0 -17-43106516-A-G,17,43106516,rs1555597285,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu51Pro,p.Leu51Pro,c.152T>C,missense_variant,Uncertain significance,433685,,1,1448042,6.905877039478136e-7,0,0,,,29.0,0.821,0.0300,-0.0200,6.30,0.00,0.989,0,33164,0,0,0,44664,0,0,0,26016,0,0,0,39534,0,0,0,53368,0,0,0,5502,0,0,0,1100446,0,0,,,,,1,85502,0,0,0,59846,0,0 -17-43106520-T-C,17,43106520,rs747212786,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys50Glu,p.Lys50Glu,c.148A>G,missense_variant,not provided,867890,,1,1445786,6.916652948638318e-7,0,0,,,26.5,0.605,0.0500,0.0700,6.32,0.00,0.877,0,33112,0,0,0,44660,0,0,0,26008,0,0,0,39522,0,0,0,53348,0,0,0,5472,0,0,0,1098436,0,0,,,,,1,85444,0,0,0,59784,0,0 -17-43106522-A-C,17,43106522,rs273897660,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu49Arg,p.Leu49Arg,c.146T>G,missense_variant,Uncertain significance,54263,,3,1595030,0.0000018808423666012551,0,0,,,26.6,0.649,0.0600,0.0700,6.30,0.00,0.891,0,74480,0,0,0,59900,0,0,0,29456,0,0,0,44700,0,0,0,63958,0,0,0,5776,0,0,2,1163882,0,0,0,912,0,0,0,90166,0,0,1,61800,0,0 -17-43106523-G-A,17,43106523,rs2054792700,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu49Leu,p.Leu49Leu,c.145C>T,synonymous_variant,not provided,867275,,1,1443004,6.92998772006176e-7,0,0,,,12.9,,0.120,-0.280,4.11,,,0,33044,0,0,0,44636,0,0,0,25982,0,0,0,39502,0,0,0,53330,0,0,0,5462,0,0,1,1096000,0,0,,,,,0,85326,0,0,0,59722,0,0 -17-43106524-CA-C,17,43106524,rs80357637,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met48SerfsTer2,p.Met48SerfsTer2,c.143del,frameshift_variant,Pathogenic,37412,,1,1441772,6.935909422571669e-7,0,0,,,27.3,,0.0500,0.110,7.07,,,0,33000,0,0,0,44626,0,0,0,25984,0,0,0,39490,0,0,0,53330,0,0,0,5446,0,0,1,1094998,0,0,,,,,0,85240,0,0,0,59658,0,0 -17-43106524-C-T,17,43106524,rs587783040,C,T,gnomAD Genomes,NA,PASS,ENST00000493795.5,p.Met1?,p.Met1?,c.3G>A,start_lost,Conflicting interpretations of pathogenicity,156487,,1,152098,0.000006574708411681942,0,0,,,24.9,0.532,0.140,-0.200,7.07,0.00,0.498,1,41394,0,0,0,15260,0,0,0,3470,0,0,0,5196,0,0,0,10604,0,0,0,316,0,0,0,68024,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 -17-43106527-G-A,17,43106527,rs398122635,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Cys,p.Cys47Cys,c.141C>T,synonymous_variant,Likely benign,427311,,10,1439662,0.000006946074842567213,0,0,sas,0.00006320999999999999,10.9,,0.100,-0.0800,0.355,,,0,32968,0,0,0,44604,0,0,0,25962,0,0,0,39476,0,0,0,53306,0,0,0,5442,0,0,0,1093158,0,0,,,,,10,85164,0,0,0,59582,0,0 -17-43106528-C-T,17,43106528,rs80357150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Tyr,p.Cys47Tyr,c.140G>A,missense_variant,Pathogenic,54246,,4,1438358,0.0000027809488319319668,0,0,nfe,8.6e-7,26.0,0.919,0.0600,-0.0400,8.85,0.00,0.223,0,32914,0,0,0,44600,0,0,0,25954,0,0,0,39474,0,0,0,53312,0,0,0,5422,0,0,4,1091942,0,0,,,,,0,85168,0,0,0,59572,0,0 -17-43106528-CA-C,17,43106528,,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47AlafsTer3,p.Cys47AlafsTer3,c.139del,frameshift_variant,,,,1,1438356,6.952381746938867e-7,0,0,,,26.2,,0.00,0.0500,8.85,,,0,32914,0,0,0,44600,0,0,0,25954,0,0,0,39474,0,0,0,53312,0,0,0,5422,0,0,0,1091940,0,0,,,,,1,85168,0,0,0,59572,0,0 -17-43106529-A-C,17,43106529,rs80357370,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Gly,p.Cys47Gly,c.139T>G,missense_variant,Likely pathogenic,54242,,1,809440,0.0000012354220201620873,0,0,,,25.9,0.940,0.00,0.0400,6.30,0.00,0.917,0,15250,0,0,0,958,0,0,0,5008,0,0,0,3512,0,0,0,272,0,0,0,1570,0,0,1,740440,0,0,,,,,0,15960,0,0,0,26470,0,0 -17-43106533-T-C,17,43106533,rs80356883,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys45Lys,p.Lys45Lys,c.135A>G,splice_region_variant,not provided,867875,,1,806750,0.0000012395413696932134,0,0,,,14.2,,0.00,0.0700,0.720,,,0,15204,0,0,0,958,0,0,0,4990,0,0,0,3500,0,0,0,272,0,0,0,1570,0,0,1,737956,0,0,,,,,0,15890,0,0,0,26410,0,0 -17-43106534-C-A,17,43106534,rs80358158,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-1G>T,,c.135-1G>T,splice_acceptor_variant,Pathogenic,37404,,7,1583254,0.000004421274160684262,0,0,nfe,0.0000025200000000000004,33.0,,0.860,-0.830,8.85,,,0,74152,0,0,0,59838,0,0,0,29366,0,0,0,44620,0,0,0,63866,0,0,0,5702,0,0,7,1153704,0,0,0,912,0,0,0,89718,0,0,0,61376,0,0 -17-43106536-A-G,17,43106536,rs759417413,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3T>C,,c.135-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,409343,,22,1424910,0.000015439571622067357,0,0,sas,0.00012686999999999998,10.5,,0.00,0.110,0.347,,,0,32590,0,0,4,44550,0,0,0,25868,0,0,0,39388,0,0,0,53288,0,0,0,5326,0,0,0,1080052,0,0,,,,,17,84726,0,0,1,59122,0,0 -17-43106537-T-C,17,43106537,rs1597900683,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4A>G,,c.135-4A>G,splice_region_variant,Likely benign,818989,,2,625774,0.0000031960420215604993,0,0,nfe,9.5e-7,10.4,,0.00,0.0300,0.792,,,0,17594,0,0,0,43600,0,0,0,20910,0,0,0,35922,0,0,0,53012,0,0,0,3770,0,0,2,349052,0,0,,,,,0,68986,0,0,0,32928,0,0 -17-43106540-A-AT,17,43106540,rs397507186,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-8dup,,c.135-8dup,splice_region_variant,Conflicting interpretations of pathogenicity,37405,,1,1417560,7.054375123451565e-7,0,0,,,13.9,,0.150,-0.230,1.79,,,0,32370,0,0,0,44506,0,0,0,25814,0,0,0,39328,0,0,0,53256,0,0,0,5288,0,0,1,1073726,0,0,,,,,0,84482,0,0,0,58790,0,0 -17-43106544-T-C,17,43106544,rs769549104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-11A>G,,c.135-11A>G,intron_variant,Conflicting interpretations of pathogenicity,215869,,4,1408816,0.000002839263608590476,0,0,nfe,8.8e-7,13.7,,0.00,0.0100,0.341,,,0,32180,0,0,0,44404,0,0,0,25736,0,0,0,39270,0,0,0,53222,0,0,0,5242,0,0,4,1066098,0,0,,,,,0,84146,0,0,0,58518,0,0 -17-43106544-TAAAG-T,17,43106544,rs878854931,TAAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-15_135-12del,,c.135-15_135-12del,intron_variant,Benign/Likely benign,240772,,3,1560862,0.000001922014886645969,0,0,,,15.3,,0.100,-0.140,0.341,,,0,73576,0,0,1,59664,0,0,0,29208,0,0,0,44464,0,0,0,63818,0,0,0,5558,0,0,1,1134084,0,0,0,912,0,0,0,88972,0,0,1,60606,0,0 -17-43106549-A-G,17,43106549,rs775525479,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-16T>C,,c.135-16T>C,intron_variant,,,,2,1393768,0.0000014349590462688196,0,0,,,15.8,,0.0800,-0.130,1.17,,,0,31784,0,0,0,44296,0,0,0,25592,0,0,0,39172,0,0,1,53152,0,0,0,5166,0,0,0,1052974,0,0,,,,,1,83664,0,0,0,57968,0,0 -17-43106551-A-C,17,43106551,rs80358085,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-18T>G,,c.135-18T>G,intron_variant,Uncertain significance,54214,,5,1534872,0.000003257600633798779,0,0,nfe,0.0000013199999999999999,13.9,,0.220,-0.330,0.347,,,0,73008,0,0,0,59476,0,0,0,28980,0,0,0,44282,0,0,0,63720,0,0,0,5400,0,0,5,1111322,0,0,0,912,0,0,0,88090,0,0,0,59682,0,0 -17-43106553-A-G,17,43106553,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-20T>C,,c.135-20T>C,intron_variant,,,,3,1378980,0.0000021755210372884305,0,0,nfe,7.7e-7,18.3,,0.0900,-0.160,0.416,,,0,31470,0,0,0,44160,0,0,0,25476,0,0,0,39076,0,0,0,53084,0,0,0,5042,0,0,3,1040086,0,0,,,,,0,83138,0,0,0,57448,0,0 -17-43106553-A-C,17,43106553,rs80358025,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-20T>G,,c.135-20T>G,intron_variant,Conflicting interpretations of pathogenicity,125566,,1,1378980,7.251736790961435e-7,0,0,,,19.4,,0.200,-0.300,0.416,,,0,31470,0,0,0,44160,0,0,0,25476,0,0,0,39076,0,0,0,53084,0,0,0,5042,0,0,1,1040086,0,0,,,,,0,83138,0,0,0,57448,0,0 -17-43106554-AAG-A,17,43106554,,AAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-23_135-22del,,c.135-23_135-22del,intron_variant,,,,1,1373690,7.279662806018825e-7,0,0,,,16.3,,0.00,-0.0500,4.28,,,0,31326,0,0,0,44100,0,0,0,25458,0,0,0,39014,0,0,0,53022,0,0,0,5012,0,0,0,1035590,0,0,,,,,1,82928,0,0,0,57240,0,0 -17-43106554-A-G,17,43106554,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-21T>C,,c.135-21T>C,intron_variant,,,,1,1373690,7.279662806018825e-7,0,0,,,18.2,,0.0100,0.0200,4.28,,,0,31326,0,0,0,44100,0,0,0,25458,0,0,1,39014,0,0,0,53022,0,0,0,5012,0,0,0,1035590,0,0,,,,,0,82928,0,0,0,57240,0,0 -17-43106555-A-G,17,43106555,rs1240099693,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-22T>C,,c.135-22T>C,intron_variant,,,,1,1369894,7.299834877735066e-7,0,0,,,19.3,,0.0700,-0.170,2.83,,,0,31192,0,0,0,44066,0,0,0,25408,0,0,1,38950,0,0,0,52984,0,0,0,4974,0,0,0,1032484,0,0,,,,,0,82726,0,0,0,57110,0,0 -17-43106556-G-A,17,43106556,rs763633355,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-23C>T,,c.135-23C>T,intron_variant,Benign/Likely benign,548719,,133,1519490,0.00008752936840650481,0,0,amr,0.0007335900000000001,16.1,,0.00,0.0100,1.96,,,0,72564,0,0,55,59154,0,0,0,28840,0,0,0,44106,0,0,0,63502,0,0,0,5288,0,0,2,1098654,0,0,0,912,0,0,70,87410,0,0,6,59060,0,0 -17-43106556-G-GA,17,43106556,,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-24dup,,c.135-24dup,intron_variant,,,,1,1367456,7.312849554208691e-7,0,0,,,15.0,,0.00,0.0100,1.96,,,0,31148,0,0,0,43916,0,0,0,25370,0,0,0,38908,0,0,0,52928,0,0,0,4972,0,0,1,1030660,0,0,,,,,0,82580,0,0,0,56974,0,0 -17-43106556-G-T,17,43106556,rs763633355,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-23C>A,,c.135-23C>A,intron_variant,,,,4,1519488,0.000002632465672647629,0,0,nfe,7.3e-7,17.2,,0.0800,-0.110,1.96,,,0,72564,0,0,0,59154,0,0,0,28840,0,0,0,44106,0,0,0,63502,0,0,0,5288,0,0,3,1098654,0,0,0,912,0,0,1,87408,0,0,0,59060,0,0 -17-43106557-A-G,17,43106557,rs1382771356,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-24T>C,,c.135-24T>C,intron_variant,,,,1,152214,0.0000065696979252893955,0,0,,,16.6,,0.0200,-0.0800,0.586,,,0,41474,0,0,0,15256,0,0,0,3472,0,0,0,5208,0,0,0,10624,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2088,0,0 -17-43106559-CAATTT-C,17,43106559,,CAATTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-31_135-27del,,c.135-31_135-27del,intron_variant,,,,3,1341444,0.000002236396003113063,0,0,nfe,3.3e-7,4.46,,0.0300,-0.120,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,2,1007372,0,0,,,,,1,81944,0,0,0,56064,0,0 -17-43106559-C-G,17,43106559,rs2054800462,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>C,,c.135-26G>C,intron_variant,,,,1,1341440,7.454675572519084e-7,0,0,,,4.06,,0.00,-0.0100,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007368,0,0,,,,,0,81944,0,0,0,56064,0,0 -17-43106559-C-A,17,43106559,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>T,,c.135-26G>T,intron_variant,,,,1,1341442,7.454664458098077e-7,0,0,,,3.86,,0.00,0.0200,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007370,0,0,,,,,0,81944,0,0,0,56064,0,0 -17-43106559-C-T,17,43106559,rs2054800462,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>A,,c.135-26G>A,intron_variant,,,,1,1341442,7.454664458098077e-7,0,0,,,5.65,,0.0200,-0.0400,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007370,0,0,,,,,0,81944,0,0,0,56064,0,0 -17-43106560-A-T,17,43106560,rs373363231,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-27T>A,,c.135-27T>A,intron_variant,Benign/Likely benign,1297482,,29,1482874,0.00001955661775713918,0,0,nfe,0.00001821,10.3,,0.100,-0.280,0.879,,,0,71744,0,0,0,59112,0,0,0,28598,0,0,0,43826,0,0,0,63384,0,0,0,5128,0,0,28,1065922,0,0,0,912,0,0,0,86398,0,0,1,57850,0,0 -17-43106561-A-C,17,43106561,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-28T>G,,c.135-28T>G,intron_variant,,,,2,706560,0.0000028306159420289855,0,0,nfe,5.1e-7,7.63,,0.0100,-0.0300,0.0540,,,0,13002,0,0,0,816,0,0,0,4408,0,0,0,3014,0,0,0,242,0,0,0,1384,0,0,2,646822,0,0,,,,,0,13716,0,0,0,23156,0,0 -17-43106562-T-A,17,43106562,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-29A>T,,c.135-29A>T,intron_variant,,,,1,1306724,7.652725441638786e-7,0,0,,,1.80,,0.00,0.0600,0.100,,,0,29744,0,0,0,43722,0,0,0,24962,0,0,0,38416,0,0,0,52648,0,0,0,4680,0,0,1,976732,0,0,,,,,0,80892,0,0,0,54928,0,0 -17-43106563-T-C,17,43106563,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-30A>G,,c.135-30A>G,intron_variant,,,,1,1306250,7.655502392344498e-7,0,0,,,12.6,,0.300,-0.360,0.410,,,0,29714,0,0,0,43730,0,0,0,24974,0,0,0,38412,0,0,0,52624,0,0,0,4686,0,0,0,976312,0,0,,,,,1,80862,0,0,0,54936,0,0 -17-43106567-T-C,17,43106567,rs1362430895,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-34A>G,,c.135-34A>G,intron_variant,,,,3,1449508,0.0000020696677769284475,0,0,,,3.81,,0.0500,-0.150,-0.647,,,0,70890,0,0,0,58620,0,0,0,28294,0,0,1,43312,0,0,0,62872,0,0,0,4820,0,0,0,1038090,0,0,0,912,0,0,2,85056,0,0,0,56642,0,0 -17-43106570-A-G,17,43106570,rs2054801035,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-37T>C,,c.135-37T>C,intron_variant,,,,1,687590,0.0000014543550662458732,0,0,,,10.2,,0.0300,-0.0700,0.212,,,0,12720,0,0,0,796,0,0,0,4284,0,0,0,2948,0,0,0,220,0,0,0,1332,0,0,1,629420,0,0,,,,,0,13344,0,0,0,22526,0,0 -17-43106573-T-A,17,43106573,rs1459721671,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-40A>T,,c.135-40A>T,intron_variant,,,,5,1283024,0.00000389704323535647,0,0,nfe,9.799999999999997e-7,12.2,,0.00,-0.0300,1.51,,,1,29110,0,0,0,43162,0,0,0,24700,0,0,0,37838,0,0,0,52058,0,0,0,4400,0,0,4,957984,0,0,,,,,0,79740,0,0,0,54032,0,0 -17-43106574-C-A,17,43106574,rs570133578,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-41G>T,,c.135-41G>T,intron_variant,,,,2,607232,0.000003293634064080944,0,0,nfe,9.799999999999997e-7,2.78,,0.0100,-0.160,0.386,,,0,16554,0,0,0,42182,0,0,0,20460,0,0,0,34878,0,0,0,51744,0,0,0,3048,0,0,2,340050,0,0,,,,,0,66450,0,0,0,31866,0,0 -17-43106574-C-T,17,43106574,rs570133578,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-41G>A,,c.135-41G>A,intron_variant,,,,1,152240,0.000006568575932737782,0,0,,,3.49,,0.00,0.0100,0.386,,,0,41542,0,0,0,15278,0,0,0,3472,0,0,1,5190,0,0,0,10598,0,0,0,294,0,0,0,68018,0,0,0,912,0,0,0,4828,0,0,0,2108,0,0 -17-43106575-CT-C,17,43106575,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-43del,,c.135-43del,intron_variant,,,,1,1275236,7.841685774241003e-7,0,0,,,8.83,,0.0100,0.00,0.498,,,0,28894,0,0,0,42866,0,0,0,24612,0,0,0,37586,0,0,0,51900,0,0,0,4362,0,0,1,951992,0,0,,,,,0,79254,0,0,0,53770,0,0 -17-43106575-C-G,17,43106575,rs377388626,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-42G>C,,c.135-42G>C,intron_variant,,,,3,1427338,0.0000021018147068178663,0,0,afr,0.00001133,2.17,,0.00,0.0200,0.498,,,3,70330,0,0,0,58126,0,0,0,28084,0,0,0,42784,0,0,0,62492,0,0,0,4678,0,0,0,1019994,0,0,0,910,0,0,0,84080,0,0,0,55860,0,0 -17-43106576-T-C,17,43106576,rs1459541739,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-43A>G,,c.135-43A>G,intron_variant,,,,1,605974,0.000001650235818698492,0,0,,,12.9,,0.00,-0.0300,2.37,,,0,16478,0,0,0,42020,0,0,0,20422,0,0,0,34780,0,0,0,51664,0,0,0,3038,0,0,1,339416,0,0,,,,,0,66320,0,0,0,31836,0,0 -17-43106578-TTGTAGA-T,17,43106578,rs754176240,TTGTAGA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-51_135-46del,,c.135-51_135-46del,intron_variant,,,,2,1262880,0.000001583681743316863,0,0,sas,0.00000421,5.36,,0.00,0.0100,0.151,,,0,28614,0,0,0,42692,0,0,0,24546,0,0,0,37462,0,0,0,51756,0,0,0,4270,0,0,0,941332,0,0,,,,,2,78864,0,0,0,53344,0,0 -17-43106578-T-C,17,43106578,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-45A>G,,c.135-45A>G,intron_variant,,,,2,1262880,0.000001583681743316863,0,0,nfe,3.5000000000000004e-7,8.49,,0.0100,-0.0200,0.151,,,0,28614,0,0,0,42692,0,0,0,24546,0,0,0,37462,0,0,0,51756,0,0,0,4270,0,0,2,941332,0,0,,,,,0,78864,0,0,0,53344,0,0 -17-43106579-T-C,17,43106579,rs2054801752,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-46A>G,,c.135-46A>G,intron_variant,,,,1,152192,0.000006570647603027754,0,0,,,3.33,,0.00,-0.0100,-0.231,,,0,41436,0,0,1,15274,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 -17-43106581-T-G,17,43106581,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-48A>C,,c.135-48A>C,intron_variant,,,,1,625966,0.0000015975308563084897,0,0,,,2.83,,0.0200,-0.0300,0.253,,,0,11612,0,0,0,702,0,0,0,3958,0,0,0,2604,0,0,0,206,0,0,0,1238,0,0,1,572990,0,0,,,,,0,12124,0,0,0,20532,0,0 -17-43106583-G-C,17,43106583,rs1567812556,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-50C>G,,c.135-50C>G,intron_variant,,,,8,1219900,0.0000065579145831625545,0,0,nfe,0.00000381,4.15,,0.00,0.0200,-0.0110,,,0,27680,0,0,0,41982,0,0,0,24236,0,0,0,36928,0,0,0,51308,0,0,0,4104,0,0,8,904292,0,0,,,,,0,77460,0,0,0,51910,0,0 -17-43106584-A-G,17,43106584,rs2054802162,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-51T>C,,c.135-51T>C,intron_variant,,,,1,152234,0.0000065688348200796145,0,0,,,7.59,,0.00,-0.0400,0.987,,,1,41464,0,0,0,15274,0,0,0,3472,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43106586-A-G,17,43106586,rs771398886,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-53T>C,,c.135-53T>C,intron_variant,,,,186,1361024,0.00013666180758017493,0,0,nfe,0.00015924,7.32,,0.00,-0.0500,1.28,,,2,68938,0,0,0,56980,0,0,0,27620,0,0,0,41928,0,0,0,61678,0,0,0,4360,0,0,175,963072,0,0,0,912,0,0,0,81926,0,0,9,53610,0,0 -17-43106590-T-C,17,43106590,rs1567812564,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-57A>G,,c.135-57A>G,intron_variant,,,,2,592894,0.000003373284263291583,0,0,eas,0.00000977,7.05,,0.00,0.0100,2.78,,,0,15936,0,0,0,40616,0,0,0,20222,0,0,2,33890,0,0,0,50550,0,0,0,2764,0,0,0,332720,0,0,,,,,0,64914,0,0,0,31282,0,0 -17-43106592-C-A,17,43106592,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-59G>T,,c.135-59G>T,intron_variant,,,,1,1138520,8.783332747777817e-7,0,0,,,1.49,,0.00,0.00,-0.461,,,0,25946,0,0,0,40682,0,0,0,23622,0,0,0,36058,0,0,0,50486,0,0,0,3822,0,0,1,833790,0,0,,,,,0,75070,0,0,0,49044,0,0 -17-43106592-C-T,17,43106592,rs1231289031,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-59G>A,,c.135-59G>A,intron_variant,,,,8,1290612,0.000006198609651855089,0,0,nfe,0.0000032300000000000004,1.95,,0.00,0.00,-0.461,,,0,67368,0,0,1,55936,0,0,0,27094,0,0,0,41258,0,0,0,61086,0,0,0,4138,0,0,7,901796,0,0,0,912,0,0,0,79890,0,0,0,51134,0,0 -17-43106593-T-C,17,43106593,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-60A>G,,c.135-60A>G,intron_variant,,,,3,541700,0.000005538120731031937,0,0,nfe,6.700000000000001e-7,12.1,,0.00,-0.0100,1.87,,,0,10020,0,0,0,580,0,0,0,3464,0,0,0,2290,0,0,0,186,0,0,0,1078,0,0,2,495900,0,0,,,,,1,10482,0,0,0,17700,0,0 -17-43106594-C-A,17,43106594,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-61G>T,,c.135-61G>T,intron_variant,,,,1,585818,0.000001707014806646433,0,0,,,8.02,,0.00,0.0100,2.40,,,0,15694,0,0,0,39666,0,0,0,20082,0,0,0,33538,0,0,0,49938,0,0,0,2702,0,0,1,329156,0,0,,,,,0,64066,0,0,0,30976,0,0 -17-43106601-C-A,17,43106601,rs1006091410,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-68G>T,,c.135-68G>T,intron_variant,,,,1,1037342,9.640022287731529e-7,0,0,,,6.48,,0.00,-0.0100,2.78,,,1,23858,0,0,0,38384,0,0,0,22806,0,0,0,35066,0,0,0,49178,0,0,0,3530,0,0,0,746896,0,0,,,,,0,71972,0,0,0,45652,0,0 -17-43106601-C-T,17,43106601,rs1006091410,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-68G>A,,c.135-68G>A,intron_variant,,,,7,1189428,0.000005885181784857932,0,0,nfe,0.00000265,7.09,,0.00,0.00,2.78,,,0,65282,0,0,0,53640,0,0,0,26276,0,0,0,40266,0,0,0,59770,0,0,1,3846,0,0,6,814896,0,0,0,912,0,0,0,76800,0,0,0,47740,0,0 -17-43106605-T-C,17,43106605,rs1229318009,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-72A>G,,c.135-72A>G,intron_variant,,,,4,723792,0.000005526449587726861,0,0,,,1.31,,0.00,0.0100,-3.11,,,0,56778,0,0,2,52578,0,0,0,23280,0,0,0,38094,0,0,0,59112,0,0,0,2886,0,0,1,390180,0,0,0,912,0,0,1,67492,0,0,0,32480,0,0 -17-43106606-A-G,17,43106606,rs2054803295,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-73T>C,,c.135-73T>C,intron_variant,,,,1,567528,0.0000017620276004003327,0,0,,,9.79,,0.00,-0.0300,1.74,,,1,15178,0,0,0,36476,0,0,0,19740,0,0,0,32736,0,0,0,48148,0,0,0,2534,0,0,0,320344,0,0,,,,,0,62150,0,0,0,30222,0,0 -17-43106608-C-G,17,43106608,rs1380870738,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-75G>C,,c.135-75G>C,intron_variant,,,,1,987688,0.000001012465474927305,0,0,,,2.38,,0.00,0.00,1.53,,,0,22802,0,0,0,36626,0,0,0,22334,0,0,0,34434,0,0,0,48018,0,0,1,3386,0,0,0,706246,0,0,,,,,0,69996,0,0,0,43846,0,0 -17-43106608-C-T,17,43106608,rs1380870738,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-75G>A,,c.135-75G>A,intron_variant,,,,2,1139736,0.000001754792337874736,0,0,,,2.83,,0.00,0.0100,1.53,,,0,64210,0,0,0,51890,0,0,0,25800,0,0,0,39634,0,0,0,58598,0,0,0,3702,0,0,2,774232,0,0,0,912,0,0,0,74822,0,0,0,45936,0,0 -17-43110464-C-T,17,43110464,rs558127058,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3931G>A,,c.135-3931G>A,intron_variant,,,,4,353670,0.00001130997822829191,0,0,eas,0.0001065099999999999,6.68,,0.00,0.00,-1.83,,,0,46586,0,0,0,28168,0,0,0,9316,0,0,4,12798,0,0,0,19296,0,0,0,1038,0,0,0,177340,0,0,0,910,0,0,0,46838,0,0,0,11380,0,0 -17-43110466-G-A,17,43110466,rs1207591662,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3933C>T,,c.135-3933C>T,intron_variant,,,,1,151818,0.000006586834235729624,0,0,,,0.596,,0.00,0.00,0.545,,,0,41314,0,0,0,15186,0,0,0,3472,0,0,0,5176,0,0,0,10554,0,0,0,316,0,0,1,67988,0,0,0,908,0,0,0,4820,0,0,0,2084,0,0 -17-43110467-T-G,17,43110467,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3934A>C,,c.135-3934A>C,intron_variant,,,,2,210054,0.000009521361173793405,1,0,sas,0.00000763,2.32,,0.00,0.00,-0.431,,,0,5314,0,0,0,13590,0,0,0,6272,0,0,0,7768,0,0,0,8938,0,0,0,804,0,0,0,114338,0,0,,,,,2,43442,1,0,0,9588,0,0 -17-43110468-C-T,17,43110468,rs1460648856,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3935G>A,,c.135-3935G>A,intron_variant,,,,2,210274,0.000009511399412195516,0,0,,,4.49,,0.310,0.260,0.550,,,0,5322,0,0,0,13728,0,0,0,6312,0,0,0,7750,0,0,0,9024,0,0,0,798,0,0,1,114300,0,0,,,,,0,43432,0,0,1,9608,0,0 -17-43110469-C-A,17,43110469,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3936G>T,,c.135-3936G>T,intron_variant,,,,1,208140,0.000004804458537522821,0,0,,,1.57,,0.170,0.110,0.550,,,0,5232,0,0,0,13580,0,0,0,6284,0,0,0,7666,0,0,0,8990,0,0,0,800,0,0,0,113004,0,0,,,,,1,43106,0,0,0,9478,0,0 -17-43110472-G-C,17,43110472,rs2054985207,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3939C>G,,c.135-3939C>G,intron_variant,,,,1,151804,0.000006587441701140945,0,0,,,2.28,,0.0500,0.120,0.545,,,0,41314,0,0,0,15186,0,0,0,3468,0,0,0,5164,0,0,0,10558,0,0,0,316,0,0,1,67992,0,0,0,910,0,0,0,4812,0,0,0,2084,0,0 -17-43110473-C-G,17,43110473,rs950388086,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3940G>C,,c.135-3940G>C,intron_variant,,,,3,151706,0.000019775091295004813,0,0,afr,0.00001927,1.55,,0.130,0.170,0.550,,,3,41276,0,0,0,15198,0,0,0,3470,0,0,0,5158,0,0,0,10496,0,0,0,316,0,0,0,67982,0,0,0,910,0,0,0,4818,0,0,0,2082,0,0 -17-43110474-T-C,17,43110474,rs2054985486,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3941A>G,,c.135-3941A>G,intron_variant,,,,1,151618,0.00000659552295901542,0,0,,,2.19,,0.0600,0.0700,0.430,,,0,41246,0,0,0,15190,0,0,0,3470,0,0,0,5136,0,0,0,10482,0,0,0,316,0,0,0,67970,0,0,0,910,0,0,1,4818,0,0,0,2080,0,0 -17-43110477-TTGGGAGACTGAGG-T,17,43110477,,TTGGGAGACTGAGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3957_135-3945del,,c.135-3957_135-3945del,intron_variant,,,,1,219646,0.000004552780382979886,0,0,,,0.700,,0.00,0.0700,0.430,,,0,5462,0,0,0,14720,0,0,0,6932,0,0,0,7824,0,0,0,9382,0,0,0,898,0,0,1,118942,0,0,,,,,0,45560,0,0,0,9926,0,0 -17-43110477-T-C,17,43110477,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3944A>G,,c.135-3944A>G,intron_variant,,,,1,219646,0.000004552780382979886,0,0,,,2.90,,0.0300,0.0800,0.430,,,0,5462,0,0,0,14720,0,0,0,6932,0,0,0,7824,0,0,0,9382,0,0,0,898,0,0,1,118942,0,0,,,,,0,45560,0,0,0,9926,0,0 -17-43110478-T-C,17,43110478,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3945A>G,,c.135-3945A>G,intron_variant,,,,1,219388,0.000004558134446733641,0,0,,,1.23,,0.100,0.0800,0.430,,,0,5460,0,0,0,14812,0,0,0,6930,0,0,0,7828,0,0,1,9380,0,0,0,892,0,0,0,118696,0,0,,,,,0,45458,0,0,0,9932,0,0 -17-43110486-TG-T,17,43110486,,TG,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3954del,,c.135-3954del,intron_variant,,,,1,151502,0.0000066005729297303,0,0,,,1.17,,0.00,0.00,0.430,,,0,41250,0,0,0,15140,0,0,0,3468,0,0,0,5128,0,0,0,10468,0,0,0,294,0,0,0,67944,0,0,0,910,0,0,1,4804,0,0,0,2096,0,0 -17-43110487-G-C,17,43110487,rs1162955306,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3954C>G,,c.135-3954C>G,intron_variant,,,,2,151792,0.000013175924949931485,0,0,afr,0.00000802,0.709,,0.0200,0.0300,0.545,,,2,41316,0,0,0,15210,0,0,0,3472,0,0,0,5162,0,0,0,10516,0,0,0,316,0,0,0,67986,0,0,0,912,0,0,0,4816,0,0,0,2086,0,0 -17-43110494-T-C,17,43110494,rs987921818,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3961A>G,,c.135-3961A>G,intron_variant,,,,2,150532,0.000013286211569633035,0,0,afr,0.000007050000000000001,0.712,,0.0600,0.0600,-1.97,,,2,40812,0,0,0,15034,0,0,0,3462,0,0,0,5062,0,0,0,10350,0,0,0,316,0,0,0,67756,0,0,0,906,0,0,0,4780,0,0,0,2054,0,0 -17-43110496-G-T,17,43110496,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3963C>A,,c.135-3963C>A,intron_variant,,,,1,249446,0.000004008883686248727,0,0,,,0.384,,0.0100,0.00,-1.00,,,0,6398,0,0,0,19088,0,0,0,8468,0,0,0,8272,0,0,0,10388,0,0,0,1242,0,0,0,133188,0,0,,,,,1,51122,0,0,0,11280,0,0 -17-43110499-T-C,17,43110499,rs1390752017,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3966A>G,,c.135-3966A>G,intron_variant,,,,2,403662,0.000004954640268343317,0,0,,,2.49,,0.00,0.00,-0.265,,,0,47530,0,0,0,34632,0,0,0,12112,0,0,0,13430,0,0,0,20862,0,0,0,1588,0,0,2,202482,0,0,0,904,0,0,0,56664,0,0,0,13458,0,0 -17-43110500-C-T,17,43110500,rs1304730071,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3967G>A,,c.135-3967G>A,intron_variant,,,,2,404520,0.000004944131316127757,0,0,,,0.438,,0.00,0.00,-0.894,,,1,47720,0,0,0,34900,0,0,0,12102,0,0,0,13500,0,0,0,20968,0,0,0,1596,0,0,1,202632,0,0,0,910,0,0,0,56642,0,0,0,13550,0,0 -17-43110501-G-A,17,43110501,rs762709502,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3968C>T,,c.135-3968C>T,intron_variant,,,,7,403278,0.000017357753212424184,0,0,nfe,0.00001266,0.235,,0.00,0.00,-0.164,,,0,47548,0,0,0,34622,0,0,0,12182,0,0,0,13370,0,0,0,20914,0,0,0,1604,0,0,6,202062,0,0,0,900,0,0,0,56598,0,0,1,13478,0,0 -17-43110505-G-T,17,43110505,rs1292416073,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3972C>A,,c.135-3972C>A,intron_variant,,,,3,268756,0.000011162541487445861,0,0,nfe,0.00000566,1.29,,0.00,0.00,0.335,,,0,7382,0,0,0,22906,0,0,0,9494,0,0,0,8510,0,0,0,11102,0,0,0,1432,0,0,3,140944,0,0,,,,,0,54756,0,0,0,12230,0,0 -17-43110508-C-T,17,43110508,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3975G>A,,c.135-3975G>A,intron_variant,,,,1,278098,0.0000035958546987033346,0,0,,,2.14,,0.130,0.120,0.338,,,0,7660,0,0,0,24154,0,0,0,9812,0,0,0,8688,0,0,0,11414,0,0,0,1476,0,0,0,146018,0,0,,,,,1,56188,0,0,0,12688,0,0 -17-43110511-A-G,17,43110511,rs1393604714,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3978T>C,,c.135-3978T>C,intron_variant,,,,1,151584,0.0000065970023221448175,0,0,,,1.06,,0.120,0.0900,-0.583,,,0,41252,0,0,0,15198,0,0,0,3466,0,0,0,5130,0,0,0,10548,0,0,0,316,0,0,1,67900,0,0,0,910,0,0,0,4798,0,0,0,2066,0,0 -17-43110516-G-A,17,43110516,rs1334524607,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3983C>T,,c.135-3983C>T,intron_variant,,,,3,437164,0.00000686241319047314,0,0,nfe,0.0000036700000000000004,0.426,,0.00,0.0100,0.335,,,0,49098,0,0,0,40496,0,0,0,13664,0,0,0,13968,0,0,0,22054,0,0,0,1974,0,0,3,217498,0,0,0,910,0,0,0,62332,0,0,0,15170,0,0 -17-43110517-T-C,17,43110517,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3984A>G,,c.135-3984A>G,intron_variant,,,,1,280964,0.000003559174840904885,0,0,,,2.00,,0.00,0.00,-0.722,,,0,7798,0,0,0,24424,0,0,0,10050,0,0,0,8664,0,0,0,11460,0,0,0,1590,0,0,1,147118,0,0,,,,,0,57036,0,0,0,12824,0,0 -17-43110518-C-A,17,43110518,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3985G>T,,c.135-3985G>T,intron_variant,,,,1,281892,0.000003547457891674826,0,0,,,0.550,,0.00,0.0800,0.338,,,0,7866,0,0,0,25144,0,0,0,10072,0,0,0,8620,0,0,0,11534,0,0,0,1614,0,0,0,147296,0,0,,,,,0,56846,0,0,1,12900,0,0 -17-43110518-C-T,17,43110518,rs1212047072,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3985G>A,,c.135-3985G>A,intron_variant,,,,1,281892,0.000003547457891674826,0,0,,,0.711,,0.00,0.00,0.338,,,0,7866,0,0,0,25144,0,0,0,10072,0,0,1,8620,0,0,0,11534,0,0,0,1614,0,0,0,147296,0,0,,,,,0,56846,0,0,0,12900,0,0 -17-43110519-AAGGCAAC-A,17,43110519,,AAGGCAAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3993_135-3987del,,c.135-3993_135-3987del,intron_variant,,,,1,286944,0.0000034850005576000893,0,0,,,0.443,,0.00,0.0200,0.269,,,0,8050,0,0,0,25550,0,0,0,10232,0,0,0,8814,0,0,1,11714,0,0,0,1678,0,0,0,150024,0,0,,,,,0,57698,0,0,0,13184,0,0 -17-43110519-A-C,17,43110519,rs761454371,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3986T>G,,c.135-3986T>G,intron_variant,,,,5,438748,0.00001139606334387849,0,0,eas,0.00014028999999999992,0.677,,0.00,0.130,0.269,,,0,49358,0,0,0,40772,0,0,0,13702,0,0,5,13986,0,0,0,22308,0,0,0,1994,0,0,0,217958,0,0,0,912,0,0,0,62504,0,0,0,15254,0,0 -17-43110520-A-G,17,43110520,rs573182674,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3987T>C,,c.135-3987T>C,intron_variant,,,,2,152018,0.000013156336749595442,0,0,afr,0.000006690000000000001,1.81,,0.00,0.00,0.269,,,2,41464,0,0,0,15256,0,0,0,3472,0,0,0,5162,0,0,0,10586,0,0,0,294,0,0,0,67974,0,0,0,912,0,0,0,4804,0,0,0,2094,0,0 -17-43110522-G-A,17,43110522,rs1480963881,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3989C>T,,c.135-3989C>T,intron_variant,,,,1,287330,0.0000034803187972018237,0,0,,,0.722,,0.00,0.0200,0.335,,,0,8018,0,0,0,25366,0,0,0,10284,0,0,0,8834,0,0,0,11750,0,0,0,1682,0,0,0,150414,0,0,,,,,1,57786,0,0,0,13196,0,0 -17-43110525-A-C,17,43110525,rs1024069027,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3992T>G,,c.135-3992T>G,intron_variant,,,,17,441350,0.000038518182848079755,0,0,amr,0.00022487999999999997,0.738,,0.00,0.0200,0.269,,,1,49402,0,0,15,40956,0,0,0,13786,0,0,0,14056,0,0,0,22450,0,0,0,2078,0,0,0,219476,0,0,0,910,0,0,0,62824,0,0,1,15412,0,0 -17-43110527-A-T,17,43110527,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3994T>A,,c.135-3994T>A,intron_variant,,,,1,292830,0.00000341495065396305,0,0,,,1.03,,0.00,0.0400,0.269,,,0,8218,0,0,0,25986,0,0,0,10420,0,0,0,8992,0,0,1,11954,0,0,0,1794,0,0,0,153422,0,0,,,,,0,58540,0,0,0,13504,0,0 -17-43110527-A-G,17,43110527,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3994T>C,,c.135-3994T>C,intron_variant,,,,1,292830,0.00000341495065396305,0,0,,,1.12,,0.00,0.100,0.269,,,0,8218,0,0,0,25986,0,0,0,10420,0,0,0,8992,0,0,0,11954,0,0,0,1794,0,0,0,153422,0,0,,,,,1,58540,0,0,0,13504,0,0 -17-43110531-A-G,17,43110531,rs1832659704,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3998T>C,,c.135-3998T>C,intron_variant,,,,4,444618,0.000008996486871876531,0,0,sas,0.00002074,1.14,,0.0500,0.120,0.269,,,0,49550,0,0,0,41182,0,0,0,13890,0,0,0,14170,0,0,0,22532,0,0,0,2142,0,0,0,221338,0,0,0,912,0,0,4,63310,0,0,0,15592,0,0 -17-43110532-G-A,17,43110532,rs75129942,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3999C>T,,c.135-3999C>T,intron_variant,Benign,209510,,8645,441038,0.019601485586276012,148,0,nfe,0.026015990000000003,0.752,,0.00,0.00,0.335,,,212,49126,0,0,608,40788,5,0,233,13824,4,0,1,14052,0,0,713,21996,13,0,5,1974,0,0,5846,219894,103,0,26,912,0,0,696,63028,18,0,305,15444,5,0 -17-43110533-C-T,17,43110533,rs1426038852,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4000G>A,,c.135-4000G>A,intron_variant,,,,5,443358,0.000011277568015012698,0,0,nfe,0.00000863,1.78,,0.0500,0.0500,0.338,,,0,49406,0,0,0,40982,0,0,0,13862,0,0,0,14148,0,0,0,22370,0,0,0,2128,0,0,5,220832,0,0,0,908,0,0,0,63204,0,0,0,15518,0,0 -17-43110534-C-T,17,43110534,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4001G>A,,c.135-4001G>A,intron_variant,,,,1,291556,0.0000034298728203158226,0,0,,,2.20,,0.140,0.150,0.338,,,0,8168,0,0,0,25718,0,0,0,10396,0,0,0,8986,0,0,0,11916,0,0,0,1862,0,0,1,152702,0,0,,,,,0,58384,0,0,0,13424,0,0 -17-43110536-C-G,17,43110536,rs1170377609,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4003G>C,,c.135-4003G>C,intron_variant,,,,1,150252,0.000006655485451108804,0,0,,,0.438,,0.0400,0.0600,0.338,,,0,40746,0,0,0,14996,0,0,0,3462,0,0,0,5106,0,0,0,10120,0,0,0,312,0,0,1,67762,0,0,0,908,0,0,0,4786,0,0,0,2054,0,0 -17-43110537-A-G,17,43110537,rs1406251398,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4004T>C,,c.135-4004T>C,intron_variant,,,,1,151660,0.000006593696426216537,0,0,,,0.365,,0.0300,0.0600,-1.85,,,0,41280,0,0,0,15182,0,0,0,3468,0,0,0,5142,0,0,0,10544,0,0,0,316,0,0,1,67932,0,0,0,912,0,0,0,4812,0,0,0,2072,0,0 -17-43110538-T-C,17,43110538,rs1188757973,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4005A>G,,c.135-4005A>G,intron_variant,,,,2,292394,0.000006840085637872186,0,0,,,0.539,,0.0400,0.0900,0.270,,,1,8184,0,0,0,25952,0,0,0,10400,0,0,0,8976,0,0,0,11926,0,0,0,1868,0,0,1,153096,0,0,,,,,0,58498,0,0,0,13494,0,0 -17-43110540-A-G,17,43110540,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4007T>C,,c.135-4007T>C,intron_variant,,,,1,292686,0.0000034166307920433502,0,0,,,2.63,,0.0200,0.0400,0.269,,,0,8170,0,0,0,25950,0,0,0,10408,0,0,0,8990,0,0,0,11938,0,0,0,1886,0,0,1,153342,0,0,,,,,0,58498,0,0,0,13504,0,0 -17-43110541-T-G,17,43110541,rs2054988724,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4008A>C,,c.135-4008A>C,intron_variant,,,,1,150260,0.00000665513110608279,0,0,,,1.21,,0.00,0.00,0.270,,,0,40704,0,0,0,14986,0,0,0,3470,0,0,0,5104,0,0,0,10114,0,0,0,314,0,0,0,67832,0,0,0,910,0,0,1,4774,0,0,0,2052,0,0 -17-43110542-C-A,17,43110542,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4009G>T,,c.135-4009G>T,intron_variant,,,,1,290968,0.000003436804047180446,0,0,,,0.512,,0.00,0.00,-0.554,,,0,8090,0,0,0,25778,0,0,0,10354,0,0,0,8968,0,0,0,11872,0,0,0,1902,0,0,1,152308,0,0,,,,,0,58280,0,0,0,13416,0,0 -17-43110542-C-T,17,43110542,rs1416407027,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4009G>A,,c.135-4009G>A,intron_variant,,,,2,441440,0.0000045306270387821675,0,0,,,0.550,,0.00,0.00,-0.554,,,2,48908,0,0,0,40832,0,0,0,13826,0,0,0,14082,0,0,0,21996,0,0,0,2218,0,0,0,220116,0,0,0,908,0,0,0,63082,0,0,0,15472,0,0 -17-43110543-G-A,17,43110543,rs2054988998,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4010C>T,,c.135-4010C>T,intron_variant,,,,3,437950,0.000006850097043041443,0,0,sas,0.0000127,0.131,,0.00,0.00,-0.660,,,0,48458,0,0,0,40406,0,0,0,13782,0,0,0,13896,0,0,0,21460,0,0,0,2054,0,0,0,218948,0,0,0,910,0,0,3,62714,0,0,0,15322,0,0 -17-43110543-G-C,17,43110543,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4010C>G,,c.135-4010C>G,intron_variant,,,,1,288674,0.0000034641152303290215,0,0,,,0.181,,0.00,0.00,-0.660,,,0,7996,0,0,0,25516,0,0,0,10314,0,0,0,8854,0,0,0,11762,0,0,1,1762,0,0,0,151254,0,0,,,,,0,57956,0,0,0,13260,0,0 -17-43110544-C-T,17,43110544,rs1379093422,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4011G>A,,c.135-4011G>A,intron_variant,,,,1,150106,0.000006661958882389778,0,0,,,0.120,,0.00,0.0400,-0.557,,,1,40662,0,0,0,15030,0,0,0,3470,0,0,0,5114,0,0,0,9988,0,0,0,314,0,0,0,67794,0,0,0,908,0,0,0,4770,0,0,0,2056,0,0 -17-43110545-A-G,17,43110545,rs1417571698,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4012T>C,,c.135-4012T>C,intron_variant,,,,1,292172,0.0000034226414577714496,0,0,,,0.558,,0.0300,0.0800,0.269,,,0,8148,0,0,1,25860,0,0,0,10394,0,0,0,8972,0,0,0,11918,0,0,0,1740,0,0,0,153216,0,0,,,,,0,58464,0,0,0,13460,0,0 -17-43110548-A-G,17,43110548,rs754146940,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4015T>C,,c.135-4015T>C,intron_variant,,,,1,292504,0.0000034187566665755,0,0,,,3.35,,0.120,0.180,0.269,,,0,8134,0,0,0,25838,0,0,0,10372,0,0,0,8980,0,0,0,11926,0,0,0,1778,0,0,0,153504,0,0,,,,,1,58492,0,0,0,13480,0,0 -17-43110550-T-G,17,43110550,rs755342376,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4017A>C,,c.135-4017A>C,intron_variant,,,,5,292332,0.000017103840838498694,0,0,sas,0.000022940000000000004,1.55,,0.140,0.150,-0.726,,,0,8104,0,0,0,25656,0,0,0,10380,0,0,0,8978,0,0,0,11930,0,0,0,1982,0,0,1,153292,0,0,,,,,4,58518,0,0,0,13492,0,0 -17-43110551-G-A,17,43110551,rs2054989633,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4018C>T,,c.135-4018C>T,intron_variant,,,,1,148812,0.000006719888181060667,0,0,,,2.38,,0.00,0.00,0.335,,,0,40260,0,0,0,14744,0,0,0,3444,0,0,0,5044,0,0,0,9680,0,0,0,314,0,0,0,67626,0,0,0,912,0,0,1,4764,0,0,0,2024,0,0 -17-43110554-CTCCAG-C,17,43110554,rs1400429598,CTCCAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4026_135-4022del,,c.135-4026_135-4022del,intron_variant,,,,1,291952,0.0000034252205842056227,0,0,,,0.485,,0.0400,0.0200,0.338,,,0,8084,0,0,0,25682,0,0,0,10330,0,0,0,8982,0,0,0,11908,0,0,0,2054,0,0,1,153020,0,0,,,,,0,58430,0,0,0,13462,0,0 -17-43110556-C-A,17,43110556,rs1460999385,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4023G>T,,c.135-4023G>T,intron_variant,,,,1,291002,0.000003436402498951897,0,0,,,1.79,,0.00,0.00,0.338,,,0,8028,0,0,0,25488,0,0,0,10322,0,0,0,8946,0,0,0,11906,0,0,0,2122,0,0,1,152494,0,0,,,,,0,58268,0,0,0,13428,0,0 -17-43110558-A-G,17,43110558,rs2054990175,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4025T>C,,c.135-4025T>C,intron_variant,,,,1,151718,0.000006591175733927418,0,0,,,2.09,,0.0200,0.0400,0.269,,,0,41270,0,0,1,15186,0,0,0,3464,0,0,0,5156,0,0,0,10580,0,0,0,314,0,0,0,67950,0,0,0,910,0,0,0,4810,0,0,0,2078,0,0 -17-43110560-C-T,17,43110560,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4027G>A,,c.135-4027G>A,intron_variant,,,,1,289742,0.0000034513463702190226,0,0,,,0.574,,0.00,0.0100,0.338,,,0,7976,0,0,0,25284,0,0,0,10276,0,0,0,8934,0,0,0,11850,0,0,0,2026,0,0,1,151878,0,0,,,,,0,58134,0,0,0,13384,0,0 -17-43110561-T-C,17,43110561,rs1240726579,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4028A>G,,c.135-4028A>G,intron_variant,,,,1,148234,0.000006746090640473845,0,0,,,1.00,,0.0400,0.0600,0.270,,,1,39936,0,0,0,14654,0,0,0,3454,0,0,0,5072,0,0,0,9718,0,0,0,312,0,0,0,67470,0,0,0,902,0,0,0,4702,0,0,0,2014,0,0 -17-43110562-G-A,17,43110562,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4029C>T,,c.135-4029C>T,intron_variant,,,,2,289946,0.000006897836148800121,0,0,,,0.871,,0.00,0.00,-0.730,,,0,7942,0,0,0,25160,0,0,0,10280,0,0,0,8888,0,0,0,11854,0,0,0,2168,0,0,1,152132,0,0,,,,,1,58152,0,0,0,13370,0,0 -17-43110567-A-G,17,43110567,rs1295927249,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4034T>C,,c.135-4034T>C,intron_variant,,,,1,151816,0.000006586921009643253,0,0,,,2.43,,0.0800,0.100,-0.732,,,0,41296,0,0,1,15204,0,0,0,3472,0,0,0,5172,0,0,0,10586,0,0,0,316,0,0,0,67968,0,0,0,912,0,0,0,4814,0,0,0,2076,0,0 -17-43110572-A-G,17,43110572,rs1567814833,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4039T>C,,c.135-4039T>C,intron_variant,,,,1,276970,0.0000036104993320576238,0,0,,,2.43,,0.0500,0.0600,-0.731,,,0,6944,0,0,0,21472,0,0,0,9702,0,0,0,8810,0,0,0,11458,0,0,0,2164,0,0,1,147664,0,0,,,,,0,56102,0,0,0,12654,0,0 -17-43110572-AG-A,17,43110572,rs1302455761,AG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4040del,,c.135-4040del,intron_variant,,,,11,428030,0.000025699133238324415,0,0,afr,0.00008228999999999997,0.711,,0.120,0.0300,-0.731,,,8,48072,0,0,1,36560,0,0,0,13160,0,0,0,13938,0,0,0,21842,0,0,1,2458,0,0,0,215470,0,0,0,910,0,0,0,60878,0,0,1,14742,0,0 -17-43110576-A-T,17,43110576,rs1250622169,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4043T>A,,c.135-4043T>A,intron_variant,,,,2,273834,0.000007303694939269776,0,0,nfe,0.000006349999999999999,0.796,,0.00,0.0400,0.269,,,0,6752,0,0,0,20400,0,0,0,9526,0,0,0,8806,0,0,0,11394,0,0,0,2276,0,0,2,146904,0,0,,,,,0,55264,0,0,0,12512,0,0 -17-43110578-AC-A,17,43110578,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4046del,,c.135-4046del,intron_variant,,,,1,262126,0.0000038149592180859586,0,0,,,1.55,,0.350,0.150,0.269,,,0,6306,0,0,0,18768,0,0,0,8968,0,0,0,8616,0,0,0,10934,0,0,0,2042,0,0,1,141526,0,0,,,,,0,52988,0,0,0,11978,0,0 -17-43110579-C-A,17,43110579,rs1396533515,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4046G>T,,c.135-4046G>T,intron_variant,,,,1,261974,0.000003817172696527136,0,0,,,1.67,,0.150,0.170,0.338,,,0,6226,0,0,0,18608,0,0,0,8964,0,0,0,8612,0,0,0,11010,0,0,0,2200,0,0,1,141526,0,0,,,,,0,52776,0,0,0,12052,0,0 -17-43110580-CCT-C,17,43110580,rs1222207844,CCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4049_135-4048del,,c.135-4049_135-4048del,intron_variant,,,,17,406756,0.000041794097690015636,0,0,nfe,0.00005213,5.89,,0.00,0.0200,-0.575,,,0,46734,0,0,0,33362,0,0,0,12214,0,0,0,13632,0,0,0,20674,0,0,0,2504,0,0,17,206258,0,0,0,910,0,0,0,56572,0,0,0,13896,0,0 -17-43110580-C-A,17,43110580,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4047G>T,,c.135-4047G>T,intron_variant,,,,1,257088,0.000003889718695543938,0,0,,,0.945,,0.0100,0.0100,-0.575,,,0,6068,0,0,0,18286,0,0,0,8746,0,0,0,8496,0,0,0,10846,0,0,0,2192,0,0,1,138804,0,0,,,,,0,51802,0,0,0,11848,0,0 -17-43110580-C-T,17,43110580,rs1567814844,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4047G>A,,c.135-4047G>A,intron_variant,,,,2,257082,0.00000777961895426362,0,0,nfe,0.00000161,0.675,,0.00,0.00,-0.575,,,0,6068,0,0,0,18286,0,0,0,8746,0,0,0,8496,0,0,0,10846,0,0,0,2192,0,0,2,138800,0,0,,,,,0,51800,0,0,0,11848,0,0 -17-43110581-C-T,17,43110581,rs765623980,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4048G>A,,c.135-4048G>A,intron_variant,,,,2,399404,0.000005007461117064426,0,0,,,4.41,,0.0400,0.0300,-1.65,,,0,46044,0,0,0,32252,0,0,0,11844,0,0,0,13500,0,0,0,20092,0,0,0,2502,0,0,2,203308,0,0,0,910,0,0,0,55366,0,0,0,13586,0,0 -17-43110581-C-A,17,43110581,rs765623980,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4048G>T,,c.135-4048G>T,intron_variant,,,,4,251136,0.000015927624872579002,0,0,sas,0.000014379999999999998,3.97,,0.00,0.0100,-1.65,,,1,5886,0,0,0,17350,0,0,0,8388,0,0,0,8402,0,0,0,10666,0,0,0,2192,0,0,0,136066,0,0,,,,,3,50630,0,0,0,11556,0,0 -17-43110582-T-G,17,43110582,rs927106107,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4049A>C,,c.135-4049A>C,intron_variant,,,,1,148850,0.000006718172657037286,0,0,,,5.44,,0.0100,0.0100,0.270,,,1,40386,0,0,0,15002,0,0,0,3454,0,0,0,5122,0,0,0,9572,0,0,0,312,0,0,0,67304,0,0,0,904,0,0,0,4754,0,0,0,2040,0,0 -17-43110584-T-A,17,43110584,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4051A>T,,c.135-4051A>T,intron_variant,,,,1,240068,0.000004165486445507106,0,0,,,4.34,,0.00,0.00,-0.724,,,0,5676,0,0,0,16446,0,0,1,7562,0,0,0,8254,0,0,0,10254,0,0,0,2048,0,0,0,130976,0,0,,,,,0,47684,0,0,0,11168,0,0 -17-43110585-C-T,17,43110585,,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4052G>A,,c.135-4052G>A,intron_variant,,,,1,144758,0.000006908081073239476,0,0,,,1.36,,0.200,0.260,0.338,,,0,38966,0,0,0,14500,0,0,0,3424,0,0,1,5008,0,0,0,8676,0,0,0,306,0,0,0,66362,0,0,0,892,0,0,0,4642,0,0,0,1982,0,0 -17-43110586-T-TAA,17,43110586,,T,TAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4054_135-4053insTT,,c.135-4054_135-4053insTT,intron_variant,,,,1,211588,0.000004726165945138665,0,0,,,0.410,,0.0900,0.120,0.270,,,0,4992,0,0,0,14142,0,0,0,6270,0,0,0,7368,0,0,0,9154,0,0,0,1724,0,0,0,116174,0,0,,,,,0,41964,0,0,1,9800,0,0 -17-43110586-T-A,17,43110586,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4053A>T,,c.135-4053A>T,intron_variant,,,,1,211632,0.00000472518333711348,0,0,,,2.46,,0.190,0.250,0.270,,,1,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9154,0,0,0,1724,0,0,0,116190,0,0,,,,,0,41972,0,0,0,9802,0,0 -17-43110586-T-C,17,43110586,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4053A>G,,c.135-4053A>G,intron_variant,,,,2,211626,0.00000945063461011407,0,0,nfe,0.0000028600000000000006,1.75,,0.00,0.0200,0.270,,,0,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9156,0,0,0,1724,0,0,2,116182,0,0,,,,,0,41972,0,0,0,9802,0,0 -17-43110586-TCAA-T,17,43110586,,TCAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4056_135-4054del,,c.135-4056_135-4054del,intron_variant,,,,1,211636,0.000004725094029371184,0,0,,,1.43,,0.170,0.250,0.270,,,0,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9156,0,0,0,1724,0,0,1,116190,0,0,,,,,0,41974,0,0,0,9802,0,0 -17-43110586-TCA-T,17,43110586,,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055_135-4054del,,c.135-4055_135-4054del,intron_variant,,,,3,211622,0.000014176219863719273,0,0,,,1.30,,0.140,0.250,0.270,,,0,4994,0,0,0,14142,0,0,0,6272,0,0,0,7378,0,0,0,9156,0,0,0,1724,0,0,1,116186,0,0,,,,,1,41968,0,0,1,9802,0,0 -17-43110587-C-CAAAAA,17,43110587,,C,CAAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4059_135-4055dup,,c.135-4059_135-4055dup,intron_variant,,,,2,169970,0.000011766782373360005,0,0,,,0.984,,0.00,0.0100,0.338,,,0,4272,0,0,0,11404,0,0,0,4366,0,0,1,6382,0,0,1,7144,0,0,0,1268,0,0,0,92522,0,0,,,,,0,34756,0,0,0,7856,0,0 -17-43110587-CAAA-C,17,43110587,rs201518255,CAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4057_135-4055del,,c.135-4057_135-4055del,intron_variant,,,,5745,265318,0.021653261369375617,0,0,sas,0.03083815000000002,1.15,,0.00,0.0200,0.338,,,132,31514,0,0,329,20388,0,0,143,6670,0,0,214,9748,0,0,272,12444,0,0,21,1416,0,0,3200,136972,0,0,0,644,0,0,1185,36608,0,0,249,8914,0,0 -17-43110587-CA-C,17,43110587,rs201518255,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055del,,c.135-4055del,intron_variant,,,,38611,166276,0.23221030094541606,0,0,sas,0.20645028,0.874,,0.00,0.0100,0.338,,,1010,4170,0,0,2684,11004,0,0,941,4288,0,0,1493,6244,0,0,1593,7020,0,0,270,1240,0,0,21033,90664,0,0,,,,,7810,33968,0,0,1777,7678,0,0 -17-43110587-C-CAAAA,17,43110587,,C,CAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4058_135-4055dup,,c.135-4058_135-4055dup,intron_variant,,,,21,169946,0.00012356866298706648,0,0,nfe,0.00009057,1.00,,0.00,0.00,0.338,,,1,4272,0,0,1,11406,0,0,0,4366,0,0,1,6382,0,0,0,7146,0,0,0,1268,0,0,14,92510,0,0,,,,,2,34746,0,0,2,7850,0,0 -17-43110587-CAAAAAA-C,17,43110587,,CAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4060_135-4055del,,c.135-4060_135-4055del,intron_variant,,,,69,169778,0.00040641308061115106,0,0,nfe,0.00034534000000000013,1.09,,0.00,0.00,0.338,,,1,4266,0,0,2,11398,0,0,1,4360,0,0,2,6376,0,0,3,7140,0,0,0,1268,0,0,42,92414,0,0,,,,,16,34710,0,0,2,7846,0,0 -17-43110587-C-CA,17,43110587,rs201518255,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4055dup,,c.135-4055dup,intron_variant,,,,11115,270794,0.04104596113650967,4,0,sas,0.054287270000000006,1.07,,0.00,0.00,0.338,,,499,31624,1,0,735,20806,0,0,267,6824,0,0,450,9940,1,0,432,12640,0,0,59,1440,1,0,6050,139838,1,0,0,642,0,0,2131,37866,0,0,492,9174,0,0 -17-43110587-C-A,17,43110587,rs1245029938,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4054G>T,,c.135-4054G>T,intron_variant,,,,166,169936,0.0009768383391394408,0,0,amr,0.0010349199999999982,1.69,,0.270,0.240,0.338,,,6,4272,0,0,17,11406,0,0,6,4364,0,0,8,6376,0,0,7,7146,0,0,1,1268,0,0,83,92500,0,0,,,,,30,34750,0,0,8,7854,0,0 -17-43110587-CAAAAA-C,17,43110587,,CAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4059_135-4055del,,c.135-4059_135-4055del,intron_variant,,,,440,168730,0.00260771647010016,0,0,sas,0.00174154,1.05,,0.00,0.00,0.338,,,5,4254,0,0,15,11322,0,0,11,4338,0,0,15,6348,0,0,20,7078,0,0,1,1264,0,0,269,91826,0,0,,,,,80,34494,0,0,24,7806,0,0 -17-43110587-C-CAA,17,43110587,rs201518255,C,CAA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4056_135-4055dup,,c.135-4056_135-4055dup,intron_variant,,,,986,271218,0.0036354519242823118,0,0,sas,0.004775410000000001,1.05,,0.00,0.00,0.338,,,23,31680,0,0,59,20832,0,0,15,6844,0,0,40,9962,0,0,40,12682,0,0,4,1440,0,0,551,140042,0,0,0,644,0,0,204,37916,0,0,50,9176,0,0 -17-43110587-CAAAAAAAA-C,17,43110587,rs201518255,CAAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4062_135-4055del,,c.135-4062_135-4055del,intron_variant,,,,1,169974,0.000005883252732770894,0,0,,,1.13,,0.00,0.00,0.338,,,0,4272,0,0,0,11406,0,0,0,4366,0,0,0,6382,0,0,0,7146,0,0,0,1268,0,0,1,92522,0,0,,,,,0,34756,0,0,0,7856,0,0 -17-43110587-CAA-C,17,43110587,rs201518255,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4056_135-4055del,,c.135-4056_135-4055del,intron_variant,,,,14408,262892,0.05480577575582368,0,0,sas,0.08116965000000001,0.943,,0.00,0.00,0.338,,,338,31434,0,0,876,20150,0,0,342,6588,0,0,546,9692,0,0,694,12288,0,0,58,1406,0,0,7880,135718,0,0,0,644,0,0,3026,36172,0,0,648,8800,0,0 -17-43110587-CAAAAAAA-C,17,43110587,,CAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4061_135-4055del,,c.135-4061_135-4055del,intron_variant,,,,10,169942,0.000058843605465394074,0,0,sas,0.00002288,1.12,,0.00,0.00,0.338,,,0,4268,0,0,1,11400,0,0,0,4366,0,0,0,6382,0,0,1,7146,0,0,0,1268,0,0,5,92506,0,0,,,,,3,34752,0,0,0,7854,0,0 -17-43110587-CAAAA-C,17,43110587,rs201518255,CAAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4058_135-4055del,,c.135-4058_135-4055del,intron_variant,,,,1817,267996,0.006779951939581187,0,0,sas,0.008371889999999986,1.14,,0.0100,0.00,0.338,,,45,31534,0,0,97,20656,0,0,59,6754,0,0,74,9878,0,0,76,12546,0,0,5,1448,0,0,1037,138218,0,0,0,644,0,0,342,37286,0,0,82,9032,0,0 -17-43110587-C-CAAA,17,43110587,rs201518255,C,CAAA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4057_135-4055dup,,c.135-4057_135-4055dup,intron_variant,,,,124,271674,0.00045642939699787246,0,0,sas,0.00047810000000000013,1.02,,0.00,0.00,0.338,,,6,31622,0,0,6,20872,0,0,1,6856,0,0,4,9998,0,0,2,12712,0,0,0,1456,0,0,72,140276,0,0,0,644,0,0,26,38046,0,0,7,9192,0,0 -17-43110588-A-C,17,43110588,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055T>G,,c.135-4055T>G,intron_variant,,,,1,6088,0.000164257555847569,0,0,,,5.66,,0.00,0.0100,0.269,,,0,92,0,0,0,394,0,0,0,440,0,0,0,138,0,0,1,288,0,0,0,132,0,0,0,3040,0,0,,,,,0,1300,0,0,0,264,0,0 -17-43110592-A-C,17,43110592,rs957314576,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4059T>G,,c.135-4059T>G,intron_variant,,,,6,151946,0.000039487712740052385,0,0,afr,0.00006972999999999997,1.93,,0.0100,0.0200,0.264,,,6,41394,0,0,0,15224,0,0,0,3466,0,0,0,5184,0,0,0,10562,0,0,0,316,0,0,0,67976,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43110594-A-G,17,43110594,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4061T>C,,c.135-4061T>C,intron_variant,,,,1,255960,0.000003906860446944835,0,0,,,4.95,,0.0300,0.0600,0.269,,,0,5964,0,0,0,17006,0,0,0,8676,0,0,0,8570,0,0,0,10556,0,0,0,2418,0,0,0,138930,0,0,,,,,0,52032,0,0,1,11808,0,0 -17-43110595-A-AAG,17,43110595,,A,AAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063_135-4062insCT,,c.135-4063_135-4062insCT,intron_variant,,,,1,256624,0.000003896751667809714,0,0,,,0.404,,0.00,0.0600,0.224,,,0,5984,0,0,0,17064,0,0,0,8688,0,0,0,8614,0,0,0,10596,0,0,0,2436,0,0,1,139230,0,0,,,,,0,52146,0,0,0,11866,0,0 -17-43110595-A-AG,17,43110595,rs1280295944,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063_135-4062insC,,c.135-4063_135-4062insC,intron_variant,,,,3,256624,0.00001169025500342914,0,0,amr,0.00004747,0.415,,0.0100,0.0800,0.224,,,0,5984,0,0,3,17064,0,0,0,8688,0,0,0,8614,0,0,0,10596,0,0,0,2436,0,0,0,139230,0,0,,,,,0,52146,0,0,0,11866,0,0 -17-43110596-A-G,17,43110596,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063T>C,,c.135-4063T>C,intron_variant,,,,1,256202,0.000003903170154799728,0,0,,,2.07,,0.0400,0.0900,0.0710,,,0,5968,0,0,0,17044,0,0,0,8668,0,0,0,8598,0,0,0,10592,0,0,0,2424,0,0,1,139046,0,0,,,,,0,52054,0,0,0,11808,0,0 -17-43110598-A-G,17,43110598,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4065T>C,,c.135-4065T>C,intron_variant,,,,2,255200,0.000007836990595611285,0,0,,,5.44,,0.0300,0.0700,0.269,,,0,5954,0,0,0,17020,0,0,0,8614,0,0,0,8580,0,0,0,10568,0,0,0,2430,0,0,1,138448,0,0,,,,,1,51784,0,0,0,11802,0,0 -17-43110601-A-AAG,17,43110601,,A,AAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4069_135-4068insCT,,c.135-4069_135-4068insCT,intron_variant,,,,1,251678,0.000003973331002312478,0,0,,,1.92,,0.00,0.0100,0.269,,,0,5952,0,0,0,17106,0,0,0,8346,0,0,0,8508,0,0,0,10384,0,0,0,2406,0,0,1,136266,0,0,,,,,0,51050,0,0,0,11660,0,0 -17-43110601-AAAAG-A,17,43110601,,AAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072_135-4069del,,c.135-4072_135-4069del,intron_variant,,,,1,251678,0.000003973331002312478,0,0,,,1.86,,0.0200,0.00,0.269,,,0,5952,0,0,1,17106,0,0,0,8346,0,0,0,8508,0,0,0,10384,0,0,0,2406,0,0,0,136266,0,0,,,,,0,51050,0,0,0,11660,0,0 -17-43110603-AAG-A,17,43110603,,AAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072_135-4071del,,c.135-4072_135-4071del,intron_variant,,,,1,242896,0.000004116988340689019,0,0,,,1.69,,0.00,0.0100,0.269,,,0,5826,0,0,0,16580,0,0,0,7816,0,0,0,8312,0,0,0,9986,0,0,0,2358,0,0,1,131588,0,0,,,,,0,49176,0,0,0,11254,0,0 -17-43110604-AG-A,17,43110604,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072del,,c.135-4072del,intron_variant,,,,1,236742,0.0000042240075694215644,0,0,,,1.62,,0.00,0.0100,-0.733,,,0,5670,0,0,0,16330,0,0,0,7570,0,0,0,8196,0,0,0,9668,0,0,0,2264,0,0,1,128180,0,0,,,,,0,47892,0,0,0,10972,0,0 -17-43110606-T-G,17,43110606,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4073A>C,,c.135-4073A>C,intron_variant,,,,2,219780,0.0000091000091000091,0,0,,,2.84,,0.0100,0.0100,0.270,,,0,5254,0,0,0,15328,0,0,0,6794,0,0,0,7602,0,0,0,9220,0,0,0,1326,0,0,1,119006,0,0,,,,,1,45028,0,0,0,10222,0,0 -17-43110606-T-C,17,43110606,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4073A>G,,c.135-4073A>G,intron_variant,,,,1,219774,0.0000045501287686441525,0,0,,,3.33,,0.00,0.00,0.270,,,0,5254,0,0,0,15330,0,0,0,6792,0,0,0,7602,0,0,0,9220,0,0,0,1326,0,0,0,119004,0,0,,,,,1,45026,0,0,0,10220,0,0 -17-43110610-T-G,17,43110610,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4077A>C,,c.135-4077A>C,intron_variant,,,,1,232840,0.0000042947947088129185,0,0,,,2.34,,0.00,0.00,0.270,,,0,5572,0,0,0,15858,0,0,0,7356,0,0,0,8106,0,0,0,9654,0,0,0,2262,0,0,1,125864,0,0,,,,,0,47332,0,0,0,10836,0,0 -17-43110614-G-A,17,43110614,rs753270719,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4081C>T,,c.135-4081C>T,intron_variant,,,,1,151456,0.000006602577646313121,0,0,,,2.71,,0.0700,0.140,0.536,,,0,41258,0,0,0,15166,0,0,0,3466,0,0,1,5168,0,0,0,10428,0,0,0,314,0,0,0,67864,0,0,0,910,0,0,0,4806,0,0,0,2076,0,0 -17-43110614-G-C,17,43110614,rs753270719,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4081C>G,,c.135-4081C>G,intron_variant,,,,4,233692,0.000017116546565564933,0,0,sas,0.000028680000000000007,2.61,,0.00,0.00,0.536,,,0,5524,0,0,0,15708,0,0,0,7472,0,0,0,8142,0,0,0,9736,0,0,0,2124,0,0,0,126748,0,0,,,,,4,47378,0,0,0,10860,0,0 -17-43110616-A-G,17,43110616,rs1484557842,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4083T>C,,c.135-4083T>C,intron_variant,,,,9,240724,0.000037387215234043966,1,0,amr,0.00029192000000000074,5.97,,0.0100,0.0100,1.10,,,0,5702,0,0,9,16038,1,0,0,7668,0,0,0,8388,0,0,0,9954,0,0,0,2364,0,0,0,130732,0,0,,,,,0,48650,0,0,0,11228,0,0 -17-43110618-A-C,17,43110618,rs898440584,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4085T>G,,c.135-4085T>G,intron_variant,,,,2,152094,0.000013149762646784225,0,0,,,5.26,,0.00,0.0100,0.167,,,0,41416,0,0,1,15242,0,0,0,3470,0,0,0,5192,0,0,0,10598,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,1,2092,0,0 -17-43110622-T-C,17,43110622,rs1352159145,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4089A>G,,c.135-4089A>G,intron_variant,,,,1,151954,0.000006580938968372007,0,0,,,2.76,,0.0100,0.00,0.505,,,0,41366,0,0,0,15244,0,0,0,3472,0,0,0,5188,0,0,0,10540,0,0,0,316,0,0,1,68006,0,0,0,912,0,0,0,4820,0,0,0,2090,0,0 -17-43110628-A-G,17,43110628,rs758878834,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4095T>C,,c.135-4095T>C,intron_variant,,,,1,233134,0.000004289378640610122,0,0,,,4.29,,0.00,0.00,-0.0630,,,0,5676,0,0,0,15896,0,0,0,7120,0,0,0,8256,0,0,0,9742,0,0,0,2242,0,0,0,126138,0,0,,,,,1,47216,0,0,0,10848,0,0 -17-43110634-A-G,17,43110634,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4101T>C,,c.135-4101T>C,intron_variant,,,,1,228246,0.000004381237787299668,0,0,,,3.93,,0.00,0.00,0.200,,,0,5660,0,0,0,15996,0,0,0,6762,0,0,1,8210,0,0,0,9532,0,0,0,1760,0,0,0,123524,0,0,,,,,0,46188,0,0,0,10614,0,0 -17-43110636-T-G,17,43110636,rs1482068503,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4103A>C,,c.135-4103A>C,intron_variant,,,,4,382020,0.000010470655986597561,0,0,eas,0.00010111999999999991,1.57,,0.00,0.00,0.0620,,,0,47104,0,0,0,31314,0,0,0,10234,0,0,4,13428,0,0,0,20176,0,0,0,2618,0,0,0,192178,0,0,0,912,0,0,0,51252,0,0,0,12804,0,0 -17-43110638-C-A,17,43110638,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4105G>T,,c.135-4105G>T,intron_variant,,,,1,223678,0.00000447071236330797,0,0,,,0.921,,0.00,0.0100,-0.00200,,,0,5600,0,0,0,15820,0,0,0,6504,0,0,0,8102,0,0,0,9324,0,0,0,2126,0,0,1,120414,0,0,,,,,0,45400,0,0,0,10388,0,0 -17-43110639-T-A,17,43110639,rs931219898,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4106A>T,,c.135-4106A>T,intron_variant,,,,2,371590,0.0000053822761645900055,0,0,,,3.29,,0.00,0.0100,0.597,,,2,46848,0,0,0,30638,0,0,0,9796,0,0,0,13216,0,0,0,19706,0,0,0,2518,0,0,0,185818,0,0,0,912,0,0,0,49792,0,0,0,12346,0,0 -17-43110640-C-T,17,43110640,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4107G>A,,c.135-4107G>A,intron_variant,,,,1,218438,0.000004577958047592452,0,0,,,1.22,,0.00,0.0200,0.0810,,,0,5528,0,0,1,15460,0,0,0,6326,0,0,0,8028,0,0,0,9158,0,0,0,2216,0,0,0,116804,0,0,,,,,0,44746,0,0,0,10172,0,0 -17-43110640-C-A,17,43110640,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4107G>T,,c.135-4107G>T,intron_variant,,,,2,218438,0.000009155916095184904,0,0,nfe,0.00000284,1.00,,0.00,0.0100,0.0810,,,0,5528,0,0,0,15460,0,0,0,6326,0,0,0,8028,0,0,0,9158,0,0,0,2216,0,0,2,116804,0,0,,,,,0,44746,0,0,0,10172,0,0 -17-43110642-C-T,17,43110642,rs2054994736,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4109G>A,,c.135-4109G>A,intron_variant,,,,2,366940,0.0000054504823676895406,0,0,,,0.905,,0.00,0.00,-0.569,,,0,46710,0,0,0,30450,0,0,0,9652,0,0,0,13082,0,0,1,19410,0,0,0,2466,0,0,1,183020,0,0,0,908,0,0,0,49086,0,0,0,12156,0,0 -17-43110643-A-G,17,43110643,rs1380468954,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4110T>C,,c.135-4110T>C,intron_variant,,,,1,152034,0.0000065774760908744095,0,0,,,0.805,,0.00,0.00,-0.228,,,0,41408,0,0,0,15246,0,0,0,3460,0,0,0,5188,0,0,0,10574,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4832,0,0,0,2084,0,0 -17-43110644-T-G,17,43110644,rs2054994844,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4111A>C,,c.135-4111A>C,intron_variant,,,,2,367050,0.0000054488489306633975,0,0,,,3.51,,0.00,0.00,0.270,,,0,46866,0,0,2,30480,0,0,0,9516,0,0,0,13174,0,0,0,19474,0,0,0,2560,0,0,0,183008,0,0,0,910,0,0,0,48898,0,0,0,12164,0,0 -17-43112432-T-C,17,43112432,rs893152351,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3294A>G,,c.134+3294A>G,intron_variant,,,,4,152294,0.00002626498745846849,0,0,sas,0.00028182000000000077,9.07,,0.00,0.0100,0.949,,,0,41568,0,0,0,15282,0,0,0,3472,0,0,0,5178,0,0,0,10618,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,4,4832,0,0,0,2112,0,0 -17-43112441-C-A,17,43112441,rs968938311,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3285G>T,,c.134+3285G>T,intron_variant,,,,3,152064,0.000019728535353535355,0,0,afr,0.00001922,6.37,,0.0100,0.00,0.331,,,3,41386,0,0,0,15250,0,0,0,3472,0,0,0,5192,0,0,0,10602,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 -17-43112442-A-G,17,43112442,rs1597907660,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3284T>C,,c.134+3284T>C,intron_variant,,,,1,152100,0.000006574621959237344,0,0,,,7.93,,0.00,0.00,-0.742,,,0,41412,0,0,0,15250,0,0,0,3472,0,0,0,5186,0,0,0,10620,0,0,0,316,0,0,1,68010,0,0,0,912,0,0,0,4836,0,0,0,2086,0,0 -17-43112453-A-G,17,43112453,,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3273T>C,,c.134+3273T>C,intron_variant,,,,1,152098,0.000006574708411681942,0,0,,,7.78,,0.00,0.00,0.264,,,0,41404,0,0,0,15256,0,0,0,3466,0,0,0,5180,0,0,0,10616,0,0,0,314,0,0,1,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 -17-43112456-CTTAAAAA-C,17,43112456,rs763215241,CTTAAAAA,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3263_134+3269del,,c.134+3263_134+3269del,intron_variant,,,,48,152126,0.0003155279176472135,0,0,nfe,0.0003677900000000002,4.00,,0.00,0.00,0.331,,,6,41508,0,0,7,15262,0,0,0,3470,0,0,0,5178,0,0,0,10588,0,0,0,294,0,0,34,67974,0,0,0,912,0,0,0,4826,0,0,1,2114,0,0 -17-43112466-A-G,17,43112466,rs2055079739,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3260T>C,,c.134+3260T>C,intron_variant,,,,1,152176,0.00000657133845021554,0,0,,,6.83,,0.00,0.00,0.271,,,0,41436,0,0,0,15266,0,0,0,3472,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43112482-T-C,17,43112482,rs1011603526,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3244A>G,,c.134+3244A>G,intron_variant,,,,1,152150,0.000006572461386789352,0,0,,,9.04,,0.500,0.500,0.272,,,0,41426,0,0,1,15266,0,0,0,3470,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2084,0,0 -17-43112484-T-C,17,43112484,rs2055080253,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3242A>G,,c.134+3242A>G,intron_variant,,,,1,152176,0.00000657133845021554,0,0,,,8.90,,0.00,0.00,0.272,,,1,41450,0,0,0,15262,0,0,0,3470,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43112489-G-A,17,43112489,rs2154561975,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3237C>T,,c.134+3237C>T,intron_variant,,,,1,152242,0.0000065684896414918355,0,0,,,11.7,,0.00,0.00,0.337,,,0,41542,0,0,1,15278,0,0,0,3472,0,0,0,5186,0,0,0,10608,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4818,0,0,0,2110,0,0 -17-43112490-T-C,17,43112490,rs902467512,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3236A>G,,c.134+3236A>G,intron_variant,,,,3,152172,0.00001971453355413611,0,0,nfe,0.00000488,6.37,,0.00,0.00,0.272,,,0,41440,0,0,1,15262,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,2,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43112494-C-T,17,43112494,rs1288508251,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3232G>A,,c.134+3232G>A,intron_variant,,,,5,152094,0.000032874406616960565,0,0,nfe,0.000028460000000000005,4.45,,0.0500,0.0200,0.340,,,0,41416,0,0,0,15248,0,0,0,3470,0,0,0,5192,0,0,0,10596,0,0,0,316,0,0,5,68028,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 -17-43112503-T-C,17,43112503,rs2055081116,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3223A>G,,c.134+3223A>G,intron_variant,,,,1,152140,0.000006572893387669252,0,0,,,2.89,,0.0100,0.0400,-0.740,,,0,41446,0,0,0,15246,0,0,0,3472,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 -17-43112504-T-C,17,43112504,rs867886191,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3222A>G,,c.134+3222A>G,intron_variant,,,,3,152246,0.0000197049511974042,0,0,amr,0.00005287,3.85,,0.0900,0.0700,0.272,,,0,41544,0,0,3,15280,0,0,0,3468,0,0,0,5178,0,0,0,10612,0,0,0,292,0,0,0,68016,0,0,0,912,0,0,0,4832,0,0,0,2112,0,0 -17-43112506-AGGG-A,17,43112506,,AGGG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3217_134+3219del,,c.134+3217_134+3219del,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,1.02,,0.140,0.0400,-0.611,,,0,41438,0,0,0,15246,0,0,0,3466,0,0,0,5190,0,0,0,10624,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43112507-G-C,17,43112507,rs532285174,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3219C>G,,c.134+3219C>G,intron_variant,,,,202,152250,0.0013267651888341544,0,0,afr,0.004110370000000001,1.95,,0.170,0.150,0.337,,,193,41536,0,0,5,15278,0,0,0,3468,0,0,0,5182,0,0,0,10612,0,0,0,294,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,3,2112,0,0 -17-43112510-G-GTCCTAGCTA,17,43112510,rs2055082432,G,GTCCTAGCTA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3215_134+3216insTAGCTAGGA,,c.134+3215_134+3216insTAGCTAGGA,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,0.646,,0.00,0.00,-0.556,,,0,41432,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10614,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 -17-43112510-G-A,17,43112510,rs1411175352,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3216C>T,,c.134+3216C>T,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,1.82,,0.00,0.00,-0.556,,,1,41432,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 -17-43112513-G-C,17,43112513,rs976538357,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3213C>G,,c.134+3213C>G,intron_variant,,,,1,152174,0.0000065714248163286764,0,0,,,0.481,,0.00,0.0100,-0.655,,,1,41444,0,0,0,15272,0,0,0,3466,0,0,0,5194,0,0,0,10616,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 -17-43112517-T-A,17,43112517,rs1226135548,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3209A>T,,c.134+3209A>T,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,1.13,,0.00,0.00,-0.720,,,0,41436,0,0,0,15256,0,0,0,3468,0,0,0,5198,0,0,0,10604,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43112522-G-A,17,43112522,rs1481299033,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3204C>T,,c.134+3204C>T,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,1.42,,0.00,0.00,0.337,,,0,41434,0,0,0,15268,0,0,0,3472,0,0,1,5202,0,0,0,10612,0,0,0,314,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 -17-43112523-A-G,17,43112523,rs920985565,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3203T>C,,c.134+3203T>C,intron_variant,,,,1,152162,0.000006571943060685322,0,0,,,2.93,,0.110,0.0700,0.271,,,1,41434,0,0,0,15262,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43112524-T-C,17,43112524,rs1018740840,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3202A>G,,c.134+3202A>G,intron_variant,,,,2,152116,0.000013147860843040837,0,0,,,0.584,,0.0300,0.00,-1.83,,,0,41420,0,0,0,15262,0,0,0,3470,0,0,1,5200,0,0,0,10598,0,0,0,312,0,0,1,68020,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 -17-43112539-T-C,17,43112539,rs547282583,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3187A>G,,c.134+3187A>G,intron_variant,,,,52,152148,0.0003417724846859637,1,0,amr,0.0005034100000000008,4.30,,0.0100,0.0200,-0.574,,,2,41520,0,0,13,15260,0,0,0,3466,0,0,0,5182,0,0,0,10604,0,0,8,294,1,0,24,67982,0,0,0,910,0,0,2,4822,0,0,3,2108,0,0 -17-43112541-G-T,17,43112541,rs2154562048,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3185C>A,,c.134+3185C>A,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,4.61,,0.00,0.0100,0.337,,,0,41530,0,0,0,15284,0,0,0,3466,0,0,1,5186,0,0,0,10598,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2112,0,0 -17-43112557-C-T,17,43112557,rs2055084375,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3169G>A,,c.134+3169G>A,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,9.06,,0.0300,0.0400,0.340,,,0,41428,0,0,0,15270,0,0,0,3470,0,0,0,5198,0,0,0,10596,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 -17-43112563-T-TCACA,17,43112563,rs1327644170,T,TCACA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3159_134+3162dup,,c.134+3159_134+3162dup,intron_variant,,,,1,152042,0.00000657713000355165,0,0,,,7.18,,0.00,0.00,0.272,,,1,41388,0,0,0,15258,0,0,0,3468,0,0,0,5190,0,0,0,10600,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4816,0,0,0,2084,0,0 -17-43112572-T-C,17,43112572,rs2055085377,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3154A>G,,c.134+3154A>G,intron_variant,,,,1,152128,0.000006573411863693732,0,0,,,10.8,,0.130,0.180,0.272,,,0,41428,0,0,0,15266,0,0,0,3470,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,1,68012,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 -17-43112581-G-T,17,43112581,rs1322064929,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3145C>A,,c.134+3145C>A,intron_variant,,,,1,152060,0.000006576351440220966,0,0,,,8.64,,0.110,0.150,0.337,,,0,41418,0,0,0,15258,0,0,0,3468,0,0,0,5180,0,0,0,10586,0,0,0,314,0,0,1,68012,0,0,0,912,0,0,0,4820,0,0,0,2092,0,0 -17-43112588-T-G,17,43112588,rs1223550447,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3138A>C,,c.134+3138A>C,intron_variant,,,,1,152092,0.000006574967782657865,0,0,,,11.1,,0.0100,0.0100,0.272,,,0,41426,0,0,0,15258,0,0,0,3472,0,0,0,5190,0,0,0,10604,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4822,0,0,0,2084,0,0 -17-43112591-C-T,17,43112591,rs1263596513,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3135G>A,,c.134+3135G>A,intron_variant,,,,2,152052,0.000013153394891221425,0,0,nfe,0.00000488,11.3,,0.00,0.00,0.340,,,0,41416,0,0,0,15250,0,0,0,3472,0,0,0,5186,0,0,0,10598,0,0,0,316,0,0,2,67990,0,0,0,910,0,0,0,4824,0,0,0,2090,0,0 -17-43112613-GAAAC-G,17,43112613,rs1490185206,GAAAC,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3109_134+3112del,,c.134+3109_134+3112del,intron_variant,,,,2,151862,0.000013169851575772741,0,0,,,6.27,,0.0500,0.00,-0.864,,,0,41358,0,0,0,15226,0,0,0,3466,0,0,0,5186,0,0,1,10548,0,0,0,316,0,0,1,67962,0,0,0,910,0,0,0,4808,0,0,0,2082,0,0 -17-43112621-C-G,17,43112621,rs1432277534,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3105G>C,,c.134+3105G>C,intron_variant,,,,2,151992,0.000013158587294068109,0,0,nfe,0.00000488,4.88,,0.0100,0.0300,0.325,,,0,41370,0,0,0,15248,0,0,0,3470,0,0,0,5194,0,0,0,10592,0,0,0,316,0,0,2,67988,0,0,0,908,0,0,0,4820,0,0,0,2086,0,0 -17-43112629-T-C,17,43112629,rs2055088008,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3097A>G,,c.134+3097A>G,intron_variant,,,,1,149250,0.000006700167504187605,0,0,,,7.17,,0.0100,0.0100,0.272,,,0,40034,0,0,0,14914,0,0,0,3450,0,0,0,5112,0,0,0,10342,0,0,0,316,0,0,1,67448,0,0,0,908,0,0,0,4690,0,0,0,2036,0,0 -17-43112631-T-C,17,43112631,rs1182815579,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3095A>G,,c.134+3095A>G,intron_variant,,,,1,148830,0.000006719075455217362,0,0,,,5.42,,0.0200,0.0100,0.272,,,1,39832,0,0,0,14878,0,0,0,3442,0,0,0,5096,0,0,0,10316,0,0,0,316,0,0,0,67336,0,0,0,908,0,0,0,4674,0,0,0,2032,0,0 -17-43112632-ATG-A,17,43112632,rs1036811698,ATG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3092_134+3093del,,c.134+3092_134+3093del,intron_variant,,,,1,148694,0.000006725220923507337,0,0,,,2.52,,0.0300,0.0500,0.271,,,1,39748,0,0,0,14842,0,0,0,3448,0,0,0,5098,0,0,0,10308,0,0,0,316,0,0,0,67350,0,0,0,908,0,0,0,4654,0,0,0,2022,0,0 -17-43112634-G-A,17,43112634,rs2055088575,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3092C>T,,c.134+3092C>T,intron_variant,,,,1,147864,0.0000067629713791051235,0,0,,,2.30,,0.0200,0.0200,0.337,,,0,39352,0,0,0,14782,0,0,0,3434,0,0,0,5082,0,0,0,10218,0,0,0,314,0,0,0,67148,0,0,0,902,0,0,0,4612,0,0,1,2020,0,0 -17-43112637-T-TCA,17,43112637,rs1177065820,T,TCA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3087_134+3088dup,,c.134+3087_134+3088dup,intron_variant,,,,6,147614,0.00004064655114013576,0,0,eas,0.0005152700000000023,1.52,,0.0200,0.00,0.272,,,0,39330,0,0,0,14740,0,0,0,3430,0,0,6,5070,0,0,0,10220,0,0,0,292,0,0,0,66998,0,0,0,906,0,0,0,4608,0,0,0,2020,0,0 -17-43112640-C-T,17,43112640,rs2055089190,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3086G>A,,c.134+3086G>A,intron_variant,,,,1,147510,0.0000067792014100738935,0,0,,,2.93,,0.00,0.0100,0.340,,,0,39186,0,0,1,14728,0,0,0,3432,0,0,0,5082,0,0,0,10230,0,0,0,310,0,0,0,67020,0,0,0,904,0,0,0,4614,0,0,0,2004,0,0 -17-43112648-C-CAT,17,43112648,rs1375700479,C,CAT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3076_134+3077dup,,c.134+3076_134+3077dup,intron_variant,,,,4,147050,0.000027201632097925877,0,0,nfe,0.00001189,0.189,,0.0100,0.00,-1.49,,,1,38830,0,0,0,14708,0,0,0,3438,0,0,0,5070,0,0,0,10218,0,0,0,310,0,0,3,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 -17-43112648-CAT-C,17,43112648,rs1375700479,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+3076_134+3077del,,c.134+3076_134+3077del,intron_variant,,,,4,147052,0.00002720126213856323,0,0,eas,0.00006968999999999999,0.133,,0.00,0.00,-1.49,,,0,38830,0,0,1,14708,0,0,0,3438,0,0,2,5070,0,0,0,10218,0,0,1,312,0,0,0,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 -17-43112648-C-T,17,43112648,rs1175146626,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3078G>A,,c.134+3078G>A,intron_variant,,,,1,147050,0.000006800408024481469,0,0,,,0.343,,0.00,0.0100,-1.49,,,0,38830,0,0,0,14708,0,0,0,3438,0,0,0,5070,0,0,0,10218,0,0,0,310,0,0,1,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 -17-43112650-T-C,17,43112650,rs1253993640,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3076A>G,,c.134+3076A>G,intron_variant,,,,6,147142,0.00004077693656467902,0,0,nfe,0.000019920000000000002,0.306,,0.00,0.00,-1.96,,,2,38820,0,0,0,14704,0,0,0,3430,0,0,0,5062,0,0,0,10246,0,0,0,316,0,0,4,67058,0,0,0,904,0,0,0,4598,0,0,0,2004,0,0 -17-43112654-TATAAC-T,17,43112654,rs1567816108,TATAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3067_134+3071del,,c.134+3067_134+3071del,intron_variant,,,,2,147464,0.000013562632235664297,0,0,nfe,0.00000495,0.578,,0.00,0.00,0.267,,,0,38980,0,0,0,14750,0,0,0,3440,0,0,0,5088,0,0,0,10262,0,0,0,314,0,0,2,67078,0,0,0,902,0,0,0,4630,0,0,0,2020,0,0 -17-43112654-T-C,17,43112654,rs928804975,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3072A>G,,c.134+3072A>G,intron_variant,,,,11,147578,0.00007453685508680156,0,0,amr,0.000054659999999999995,2.54,,0.00,0.0100,0.267,,,0,39102,0,0,3,14768,0,0,0,3440,0,0,0,5076,0,0,0,10262,0,0,0,292,0,0,7,67070,0,0,0,902,0,0,1,4626,0,0,0,2040,0,0 -17-43112658-A-G,17,43112658,rs1003250810,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3068T>C,,c.134+3068T>C,intron_variant,,,,12,152266,0.00007880945188026217,0,0,nfe,0.00010175999999999997,1.45,,0.00,0.00,0.252,,,0,41552,0,0,0,15284,0,0,0,3472,0,0,0,5186,0,0,0,10610,0,0,0,294,0,0,12,68018,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 -17-43112681-C-A,17,43112681,rs1176795378,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3045G>T,,c.134+3045G>T,intron_variant,,,,2,146588,0.000013643681611045925,0,0,afr,0.00000858,0.468,,0.00,0.0100,-0.650,,,2,38608,0,0,0,14726,0,0,0,3436,0,0,0,5052,0,0,0,10116,0,0,0,306,0,0,0,66852,0,0,0,902,0,0,0,4584,0,0,0,2006,0,0 -17-43115652-G-T,17,43115652,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+74C>A,,c.134+74C>A,intron_variant,,,,1,658886,0.0000015177132311204063,0,0,,,0.276,,0.00,0.00,0.00,,,0,12128,0,0,0,750,0,0,0,4056,0,0,0,2764,0,0,0,250,0,0,0,1310,0,0,1,603046,0,0,,,,,0,12952,0,0,0,21630,0,0 -17-43115652-G-C,17,43115652,rs1407750115,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+74C>G,,c.134+74C>G,intron_variant,,,,2,811032,0.0000024659939435188745,0,0,,,0.293,,0.00,0.00,0.00,,,1,53548,0,0,0,16010,0,0,0,7528,0,0,0,7966,0,0,0,10858,0,0,0,1626,0,0,1,671078,0,0,0,910,0,0,0,17786,0,0,0,23722,0,0 -17-43115655-A-T,17,43115655,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+71T>A,,c.134+71T>A,intron_variant,,,,1,663062,0.0000015081545918782859,0,0,,,0.419,,0.00,0.00,-0.415,,,0,12216,0,0,0,758,0,0,0,4096,0,0,0,2754,0,0,0,256,0,0,0,1312,0,0,1,606874,0,0,,,,,0,13046,0,0,0,21750,0,0 -17-43115655-A-C,17,43115655,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+71T>G,,c.134+71T>G,intron_variant,,,,5,663064,0.000007540750214157306,0,0,nfe,0.00000241,0.512,,0.00,0.00,-0.415,,,0,12216,0,0,0,758,0,0,0,4096,0,0,0,2754,0,0,0,256,0,0,0,1312,0,0,5,606874,0,0,,,,,0,13048,0,0,0,21750,0,0 -17-43115656-G-C,17,43115656,rs2154565087,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+70C>G,,c.134+70C>G,intron_variant,,,,1,592220,0.0000016885616831582857,0,0,,,0.114,,0.00,0.00,-0.698,,,0,16670,0,0,0,38552,0,0,0,20182,0,0,0,34910,0,0,0,51024,0,0,0,4086,0,0,0,330994,0,0,,,,,1,64096,0,0,0,31706,0,0 -17-43115656-G-A,17,43115656,rs2154565087,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+70C>T,,c.134+70C>T,intron_variant,,,,1,592220,0.0000016885616831582857,0,0,,,0.135,,0.00,0.00,-0.698,,,0,16670,0,0,0,38552,0,0,0,20182,0,0,0,34910,0,0,0,51024,0,0,0,4086,0,0,0,330994,0,0,,,,,1,64096,0,0,0,31706,0,0 -17-43115660-T-C,17,43115660,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+66A>G,,c.134+66A>G,intron_variant,,,,2,1328110,0.0000015058993607457213,0,0,,,6.26,,0.00,0.00,0.591,,,0,30402,0,0,0,40212,0,0,0,24788,0,0,1,38270,0,0,0,51718,0,0,0,5524,0,0,1,1002228,0,0,,,,,0,79034,0,0,0,55934,0,0 -17-43115664-C-G,17,43115664,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+62G>C,,c.134+62G>C,intron_variant,,,,1,603846,0.0000016560513773379306,0,0,,,6.38,,0.00,0.00,0.956,,,0,17070,0,0,0,40588,0,0,0,20408,0,0,0,35346,0,0,0,51734,0,0,1,4112,0,0,0,336712,0,0,,,,,0,65708,0,0,0,32168,0,0 -17-43115666-G-C,17,43115666,rs2154565114,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+60C>G,,c.134+60C>G,intron_variant,,,,1,1364704,7.32759631392595e-7,0,0,,,0.293,,0.00,0.00,-0.228,,,0,31298,0,0,0,41990,0,0,0,25146,0,0,1,38672,0,0,0,52120,0,0,0,5598,0,0,0,1031650,0,0,,,,,0,81104,0,0,0,57126,0,0 -17-43115667-G-C,17,43115667,rs2154565122,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+59C>G,,c.134+59C>G,intron_variant,,,,3,1369384,0.000002190766067078336,0,0,nfe,7.7e-7,2.13,,0.00,0.00,0.170,,,0,31416,0,0,0,42248,0,0,0,25174,0,0,0,38724,0,0,0,52184,0,0,0,5614,0,0,3,1035332,0,0,,,,,0,81386,0,0,0,57306,0,0 -17-43115667-G-T,17,43115667,rs2154565122,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+59C>A,,c.134+59C>A,intron_variant,,,,1,1369384,7.302553556927787e-7,0,0,,,1.89,,0.00,0.00,0.170,,,0,31416,0,0,0,42248,0,0,0,25174,0,0,0,38724,0,0,0,52184,0,0,0,5614,0,0,1,1035332,0,0,,,,,0,81386,0,0,0,57306,0,0 -17-43115668-G-T,17,43115668,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+58C>A,,c.134+58C>A,intron_variant,,,,1,1381744,7.237230630275941e-7,0,0,,,0.188,,0.00,0.00,-0.614,,,0,31708,0,0,0,42590,0,0,0,25300,0,0,0,38822,0,0,0,52272,0,0,0,5630,0,0,1,1045596,0,0,,,,,0,82080,0,0,0,57746,0,0 -17-43115668-G-A,17,43115668,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+58C>T,,c.134+58C>T,intron_variant,,,,1,1381744,7.237230630275941e-7,0,0,,,0.236,,0.00,0.00,-0.614,,,1,31708,0,0,0,42590,0,0,0,25300,0,0,0,38822,0,0,0,52272,0,0,0,5630,0,0,0,1045596,0,0,,,,,0,82080,0,0,0,57746,0,0 -17-43115670-T-C,17,43115670,rs1567817733,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+56A>G,,c.134+56A>G,intron_variant,,,,1,612646,0.0000016322639827894085,0,0,,,1.72,,0.00,0.00,-0.780,,,0,17350,0,0,0,42024,0,0,0,20592,0,0,0,35670,0,0,0,52212,0,0,0,4130,0,0,1,340988,0,0,,,,,0,67176,0,0,0,32504,0,0 -17-43115671-A-G,17,43115671,rs2055235438,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+55T>C,,c.134+55T>C,intron_variant,,,,1,152168,0.000006571683928289785,0,0,,,1.28,,0.00,0.00,-0.530,,,1,41446,0,0,0,15254,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68030,0,0,0,910,0,0,0,4834,0,0,0,2094,0,0 -17-43115672-T-C,17,43115672,rs1567817738,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+54A>G,,c.134+54A>G,intron_variant,,,,5,1404250,0.0000035606195478013174,0,0,eas,0.00004963999999999997,7.82,,0.00,0.00,0.0930,,,0,32184,0,0,0,43180,0,0,0,25492,0,0,5,39136,0,0,0,52590,0,0,0,5662,0,0,0,1064480,0,0,,,,,0,82998,0,0,0,58528,0,0 -17-43115673-G-A,17,43115673,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+53C>T,,c.134+53C>T,intron_variant,,,,1,1406612,7.109281024191461e-7,0,0,,,0.701,,0.00,0.00,0.00300,,,0,32222,0,0,0,43268,0,0,0,25510,0,0,0,39142,0,0,0,52590,0,0,0,5664,0,0,0,1066484,0,0,,,,,0,83140,0,0,1,58592,0,0 -17-43115676-G-C,17,43115676,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+50C>G,,c.134+50C>G,intron_variant,,,,4,1416496,0.0000028238696049971196,0,0,nfe,8.699999999999999e-7,1.91,,0.00,0.00,0.416,,,0,32464,0,0,0,43514,0,0,0,25600,0,0,0,39228,0,0,0,52714,0,0,0,5692,0,0,4,1074724,0,0,,,,,0,83666,0,0,0,58894,0,0 -17-43115677-G-C,17,43115677,rs777903680,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+49C>G,,c.134+49C>G,intron_variant,,,,3,1420760,0.0000021115459331625326,0,0,,,0.605,,0.00,0.00,-0.911,,,0,32566,0,0,0,43632,0,0,0,25624,0,0,0,39292,0,0,0,52760,0,0,0,5696,0,0,1,1078252,0,0,,,,,0,83884,0,0,2,59054,0,0 -17-43115677-G-A,17,43115677,rs777903680,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+49C>T,,c.134+49C>T,intron_variant,,,,1,1420760,7.038486443875109e-7,0,0,,,0.735,,0.00,0.00,-0.911,,,0,32566,0,0,0,43632,0,0,0,25624,0,0,0,39292,0,0,0,52760,0,0,0,5696,0,0,1,1078252,0,0,,,,,0,83884,0,0,0,59054,0,0 -17-43115679-CAA-C,17,43115679,rs1279671279,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+45_134+46del,,c.134+45_134+46del,intron_variant,,,,2,771296,0.0000025930382110110773,0,0,,,3.74,,0.00,0.0100,-0.769,,,0,58822,0,0,1,58012,0,0,0,24158,0,0,0,41042,0,0,0,63088,0,0,0,4448,0,0,0,412886,0,0,0,910,0,0,0,73096,0,0,1,34834,0,0 -17-43115680-A-C,17,43115680,rs2154565150,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+46T>G,,c.134+46T>G,intron_variant,,,,1,815818,0.0000012257635894280343,0,0,,,7.23,,0.00,0.00,0.125,,,1,15362,0,0,0,954,0,0,0,5048,0,0,0,3532,0,0,0,272,0,0,0,1592,0,0,0,746176,0,0,,,,,0,16084,0,0,0,26798,0,0 -17-43115684-AC-A,17,43115684,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+41del,,c.134+41del,intron_variant,,,,1,1441438,6.937516563320795e-7,0,0,,,0.181,,0.00,0.00,1.52,,,0,33010,0,0,0,44008,0,0,0,25864,0,0,0,39474,0,0,0,53024,0,0,0,5740,0,0,1,1095854,0,0,,,,,0,84734,0,0,0,59730,0,0 -17-43115684-A-G,17,43115684,rs759508496,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+42T>C,,c.134+42T>C,intron_variant,,,,39,1593622,0.00002447255371725541,0,0,nfe,0.00002427,7.48,,0.00,0.00,1.52,,,0,74472,0,0,0,59266,0,0,0,29334,0,0,0,44668,0,0,0,63636,0,0,0,6056,0,0,38,1163890,0,0,0,912,0,0,0,89564,0,0,1,61824,0,0 -17-43115686-A-G,17,43115686,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+40T>C,,c.134+40T>C,intron_variant,,,,1,1443970,6.925351634729253e-7,0,0,,,12.1,,0.00,0.00,0.859,,,1,33068,0,0,0,44100,0,0,0,25900,0,0,0,39522,0,0,0,53050,0,0,0,5744,0,0,0,1097868,0,0,,,,,0,84890,0,0,0,59828,0,0 -17-43115690-G-A,17,43115690,rs757494313,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+36C>T,,c.134+36C>T,intron_variant,,,,1,1446028,6.915495412260343e-7,0,0,,,8.69,,0.00,0.00,0.0380,,,0,33116,0,0,0,44214,0,0,0,25918,0,0,0,39532,0,0,0,53104,0,0,0,5740,0,0,1,1099376,0,0,,,,,0,85146,0,0,0,59882,0,0 -17-43115695-T-C,17,43115695,rs1567817757,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+31A>G,,c.134+31A>G,intron_variant,,,,4,1604522,0.0000024929542879436993,0,0,nfe,8e-7,4.97,,0.00,0.00,0.0220,,,0,74630,0,0,0,59582,0,0,0,29454,0,0,0,44784,0,0,0,63816,0,0,0,6068,0,0,4,1172798,0,0,0,912,0,0,0,90320,0,0,0,62158,0,0 -17-43115695-T-A,17,43115695,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+31A>T,,c.134+31A>T,intron_variant,,,,1,1452490,6.884728982643598e-7,0,0,,,4.30,,0.00,0.00,0.0220,,,0,33242,0,0,0,44362,0,0,0,25986,0,0,0,39592,0,0,0,53218,0,0,0,5752,0,0,0,1104778,0,0,,,,,0,85496,0,0,1,60064,0,0 -17-43115698-TG-T,17,43115698,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+27del,,c.134+27del,intron_variant,,,,2,1454736,0.0000013748198985932842,0,0,nfe,2.999999999999999e-7,4.08,,0.00,0.00,-1.95,,,0,33300,0,0,0,44412,0,0,0,26006,0,0,0,39622,0,0,0,53254,0,0,0,5756,0,0,2,1106594,0,0,,,,,0,85648,0,0,0,60144,0,0 -17-43115698-T-C,17,43115698,rs1234398532,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+28A>G,,c.134+28A>G,intron_variant,,,,5,1454736,0.000003437049746483211,0,0,nfe,0.0000013199999999999999,6.14,,0.00,0.00,-1.95,,,0,33300,0,0,0,44412,0,0,0,26006,0,0,0,39622,0,0,0,53254,0,0,0,5756,0,0,5,1106594,0,0,,,,,0,85648,0,0,0,60144,0,0 -17-43115699-G-A,17,43115699,rs1195425187,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+27C>T,,c.134+27C>T,intron_variant,,,,1,1454740,6.874080591720857e-7,0,0,,,5.78,,0.00,0.00,-0.308,,,0,33302,0,0,0,44424,0,0,0,26010,0,0,1,39602,0,0,0,53236,0,0,0,5754,0,0,0,1106602,0,0,,,,,0,85650,0,0,0,60160,0,0 -17-43115700-G-A,17,43115700,rs1419850756,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+26C>T,,c.134+26C>T,intron_variant,,,,1,626116,0.0000015971481322949742,0,0,,,2.95,,0.00,0.00,-1.71,,,0,17650,0,0,0,43458,0,0,0,20880,0,0,0,36006,0,0,0,52982,0,0,0,4146,0,0,1,348712,0,0,,,,,0,69292,0,0,0,32990,0,0 -17-43115702-G-A,17,43115702,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+24C>T,,c.134+24C>T,intron_variant,,,,3,1455870,0.0000020606235446846217,0,0,,,9.39,,0.00,0.00,0.678,,,0,33348,0,0,0,44472,0,0,0,26020,0,0,0,39618,0,0,0,53284,0,0,0,5754,0,0,1,1107444,0,0,,,,,0,85746,0,0,2,60184,0,0 -17-43115703-C-T,17,43115703,rs781568696,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+23G>A,,c.134+23G>A,intron_variant,not provided,867247,,7,1456904,0.000004804709164090427,0,0,sas,0.00003783999999999999,1.89,,0.00,0.00,-2.99,,,0,33362,0,0,0,44476,0,0,0,26020,0,0,0,39628,0,0,0,53282,0,0,0,5756,0,0,0,1108386,0,0,,,,,7,85780,0,0,0,60214,0,0 -17-43115706-C-CA,17,43115706,rs768647585,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+19dup,,c.134+19dup,intron_variant,Conflicting interpretations of pathogenicity,630596,,3,1610410,0.0000018628796393465018,0,0,afr,0.00001065,9.99,,0.00,0.0100,0.233,,,3,74806,0,0,0,59780,0,0,0,29522,0,0,0,44838,0,0,0,63890,0,0,0,6080,0,0,0,1177516,0,0,0,910,0,0,0,90708,0,0,0,62360,0,0 -17-43115706-C-T,17,43115706,rs2055237738,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+20G>A,,c.134+20G>A,intron_variant,not provided,865168,,6,1458332,0.000004114289475921806,0,0,nfe,0.0000013199999999999999,6.49,,0.00,0.00,0.233,,,0,33408,0,0,0,44532,0,0,0,26050,0,0,0,39642,0,0,0,53304,0,0,0,5764,0,0,5,1109490,0,0,,,,,0,85876,0,0,1,60266,0,0 -17-43115707-A-G,17,43115707,rs1060504590,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+19T>C,,c.134+19T>C,intron_variant,Likely benign,415604,,1,1458682,6.855503804119061e-7,0,0,,,12.8,,0.00,0.00,1.41,,,0,33418,0,0,0,44548,0,0,0,26048,0,0,0,39642,0,0,0,53316,0,0,0,5764,0,0,1,1109766,0,0,,,,,0,85902,0,0,0,60278,0,0 -17-43115708-T-C,17,43115708,rs1555599182,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+18A>G,,c.134+18A>G,intron_variant,Likely benign,629196,,1,1458836,6.854780112363555e-7,0,0,,,8.46,,0.00,0.00,-0.0900,,,0,33418,0,0,0,44556,0,0,0,26056,0,0,0,39648,0,0,0,53314,0,0,0,5764,0,0,0,1109874,0,0,,,,,0,85924,0,0,1,60282,0,0 -17-43115710-A-T,17,43115710,rs2055238665,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+16T>A,,c.134+16T>A,intron_variant,Uncertain significance,867851,,3,1459188,0.0000020559379600161188,0,0,eas,0.00002006,12.0,,0.0100,-0.0100,1.67,,,0,33432,0,0,0,44562,0,0,0,26064,0,0,3,39654,0,0,0,53320,0,0,0,5766,0,0,0,1110140,0,0,,,,,0,85948,0,0,0,60302,0,0 -17-43115711-C-T,17,43115711,rs863224417,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+15G>A,,c.134+15G>A,intron_variant,Likely benign,215868,,7,1611398,0.000004344054044996953,0,0,nfe,0.00000247,6.12,,0.00,0.00,0.273,,,0,74838,0,0,0,59810,0,0,0,29532,0,0,0,44850,0,0,0,63920,0,0,0,6080,0,0,7,1178278,0,0,0,910,0,0,0,90786,0,0,0,62394,0,0 -17-43115714-A-G,17,43115714,rs2055239927,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+12T>C,,c.134+12T>C,intron_variant,not provided,867524,,1,627558,0.0000015934782123724023,0,0,,,8.41,,0.00,0.00,0.278,,,0,17680,0,0,0,43606,0,0,0,20934,0,0,0,36034,0,0,0,53062,0,0,0,4148,0,0,1,349488,0,0,,,,,0,69554,0,0,0,33052,0,0 -17-43115716-T-C,17,43115716,rs2055240559,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+10A>G,,c.134+10A>G,intron_variant,not provided,865159,,2,1460346,0.0000013695384518463433,0,0,nfe,2.999999999999999e-7,14.9,,0.00,-0.0100,2.25,,,0,33454,0,0,0,44602,0,0,0,26092,0,0,0,39672,0,0,0,53340,0,0,0,5766,0,0,2,1111048,0,0,,,,,0,86038,0,0,0,60334,0,0 -17-43115717-C-G,17,43115717,rs1555599187,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+9G>C,,c.134+9G>C,intron_variant,Likely benign,491032,,1,1460402,6.847429680320898e-7,0,0,,,12.0,,0.00,0.00,1.19,,,0,33454,0,0,0,44586,0,0,0,26090,0,0,0,39670,0,0,0,53334,0,0,0,5766,0,0,1,1111120,0,0,,,,,0,86034,0,0,0,60348,0,0 -17-43115718-A-C,17,43115718,rs2055241049,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+8T>G,,c.134+8T>G,splice_region_variant,not provided,868182,,1,832846,0.000001200702170629384,0,0,,,10.0,,0.00,0.00,0.467,,,0,15778,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761666,0,0,,,,,0,16452,0,0,0,27294,0,0 -17-43115719-AACTT-A,17,43115719,rs397508858,AACTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+3_134+6del,,c.134+3_134+6del,intron_variant,Pathogenic/Likely pathogenic,54213,,2,627840,0.0000031855249745158003,0,0,nfe,9.5e-7,23.4,,0.980,-0.890,0.00800,,,0,17682,0,0,0,43624,0,0,0,20942,0,0,0,36042,0,0,0,53076,0,0,0,4148,0,0,2,349642,0,0,,,,,0,69620,0,0,0,33064,0,0 -17-43115723-T-A,17,43115723,rs80358064,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+3A>T,,c.134+3A>T,intron_variant,Conflicting interpretations of pathogenicity,531302,,1,627998,0.0000015923617591138826,0,0,,,24.3,,0.830,-0.790,6.30,,,0,17686,0,0,0,43654,0,0,0,20948,0,0,0,36042,0,0,0,53088,0,0,0,4146,0,0,1,349726,0,0,,,,,0,69640,0,0,0,33068,0,0 -17-43115726-T-G,17,43115726,rs80356863,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys45Thr,p.Lys45Thr,c.134A>C,missense_variant,Conflicting interpretations of pathogenicity,37402,,1,152138,0.000006572979794660111,0,0,,,23.5,0.631,0.0100,-0.0300,0.702,0.00,0.149,1,41442,0,0,0,15248,0,0,0,3472,0,0,0,5194,0,0,0,10606,0,0,0,316,0,0,0,68030,0,0,0,908,0,0,0,4830,0,0,0,2092,0,0 -17-43115727-TGC-T,17,43115727,rs1597911705,TGC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys44Ter,p.Cys44Ter,c.131_132del,frameshift_variant,Pathogenic/Likely pathogenic,803420,,1,1461134,6.843999249897683e-7,0,0,,,33.0,,0.0500,-0.0800,6.30,,,0,33466,0,0,0,44638,0,0,0,26102,0,0,1,39668,0,0,0,53380,0,0,0,5768,0,0,0,1111608,0,0,,,,,0,86130,0,0,0,60374,0,0 -17-43115727-T-G,17,43115727,rs769650474,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys45Gln,p.Lys45Gln,c.133A>C,missense_variant,Benign,183950,,39,1613246,0.000024174862358251623,0,0,nfe,0.00002075,29.7,0.573,0.0600,-0.0400,6.30,0.00,0.170,0,74886,0,0,0,59884,0,0,0,29574,0,0,0,44870,0,0,0,63982,0,0,0,6084,0,0,34,1179624,0,0,0,912,0,0,1,90966,0,0,4,62464,0,0 -17-43115729-C-A,17,43115729,rs80357446,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys44Phe,p.Cys44Phe,c.131G>T,missense_variant,Pathogenic,54200,,3,1461168,0.000002053151998948786,0,0,nfe,2.999999999999999e-7,25.1,0.933,0.00,0.00,8.83,0.0100,0.879,0,33468,0,0,0,44648,0,0,0,26096,0,0,0,39666,0,0,0,53374,0,0,1,5768,0,0,2,1111648,0,0,,,,,0,86130,0,0,0,60370,0,0 -17-43115732-A-G,17,43115732,rs1298544053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe43Ser,p.Phe43Ser,c.128T>C,missense_variant,Uncertain significance,441341,,1,628218,0.0000015918041189523383,0,0,,,27.5,0.847,0.00,0.00,6.28,0.00,0.760,1,17688,0,0,0,43674,0,0,0,20958,0,0,0,36042,0,0,0,53102,0,0,0,4148,0,0,0,349828,0,0,,,,,0,69702,0,0,0,33076,0,0 -17-43115734-T-C,17,43115734,rs2055246676,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile42Met,p.Ile42Met,c.126A>G,missense_variant,not provided,867509,,2,833086,0.000002400712531479343,0,0,nfe,4.4e-7,25.0,0.611,0.0100,0.00,2.86,0.00,0.942,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761884,0,0,,,,,0,16460,0,0,0,27294,0,0 -17-43115735-AT-A,17,43115735,rs80357943,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile42TyrfsTer8,p.Ile42TyrfsTer8,c.124del,frameshift_variant,Pathogenic,54173,,1,628288,0.000001591626769888968,0,0,,,26.2,,0.0200,0.0100,6.28,,,0,17688,0,0,0,43682,0,0,0,20956,0,0,0,36042,0,0,0,53120,0,0,0,4148,0,0,0,349862,0,0,,,,,0,69710,0,0,1,33080,0,0 -17-43115736-T-C,17,43115736,rs80357163,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile42Val,p.Ile42Val,c.124A>G,missense_variant,Conflicting interpretations of pathogenicity,54172,,2,780406,0.000002562768610184955,0,0,,,24.0,0.481,0.0100,0.00,4.71,0.00,0.675,0,59116,0,0,1,58926,0,0,0,24428,0,0,0,41244,0,0,0,63714,0,0,0,4464,0,0,0,417892,0,0,0,912,0,0,1,74540,0,0,0,35170,0,0 -17-43115737-G-A,17,43115737,rs786202211,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His41His,p.His41His,c.123C>T,synonymous_variant,Likely benign,185485,,1,628282,0.0000015916419696887704,0,0,,,8.98,,0.0100,-0.0200,2.72,,,0,17692,0,0,0,43684,0,0,0,20960,0,0,0,36042,0,0,0,53112,0,0,0,4148,0,0,1,349850,0,0,,,,,0,69714,0,0,0,33080,0,0 -17-43115742-C-T,17,43115742,rs879255290,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp40Asn,p.Asp40Asn,c.118G>A,missense_variant,Uncertain significance,252392,,1,628254,0.0000015917129059265838,0,0,,,27.7,0.509,0.0300,-0.0200,8.83,0.00,0.870,0,17686,0,0,0,43692,0,0,0,20960,0,0,0,36040,0,0,1,53120,0,0,0,4142,0,0,0,349854,0,0,,,,,0,69680,0,0,0,33080,0,0 -17-43115745-A-G,17,43115745,rs80357164,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys39Arg,p.Cys39Arg,c.115T>C,missense_variant,Pathogenic,54152,,1,628346,0.000001591479853456535,0,0,,,26.8,0.934,0.0100,0.00,6.28,0.00,0.879,0,17688,0,0,0,43692,0,0,0,20960,0,0,0,36044,0,0,0,53122,0,0,0,4146,0,0,1,349890,0,0,,,,,0,69726,0,0,0,33078,0,0 -17-43115746-C-T,17,43115746,rs1800062,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys38Lys,p.Lys38Lys,c.114G>A,synonymous_variant,Benign,54146,,3222,1613626,0.001996745218532671,89,0,eas,0.05192196000000002,6.31,,0.00,-0.0100,-0.367,,,23,75008,0,0,633,59926,4,0,0,29584,0,0,2409,44852,85,0,0,63980,0,0,1,6060,0,0,11,1179808,0,0,0,912,0,0,23,91014,0,0,122,62482,0,0 -17-43115747-T-C,17,43115747,rs2055251821,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys38Arg,p.Lys38Arg,c.113A>G,missense_variant,Uncertain significance,865132,,1,628346,0.000001591479853456535,0,0,,,22.9,0.550,0.100,0.0600,2.29,0.0600,0.871,0,17688,0,0,0,43690,0,0,0,20960,0,0,0,36042,0,0,0,53120,0,0,0,4148,0,0,0,349890,0,0,,,,,0,69728,0,0,1,33080,0,0 -17-43115749-T-A,17,43115749,rs1293537445,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr37Thr,p.Thr37Thr,c.111A>T,synonymous_variant,Likely benign,865127,,1,628356,0.0000015914545257783803,0,0,,,12.3,,0.0200,-0.0100,0.743,,,0,17682,0,0,0,43690,0,0,0,20960,0,0,1,36042,0,0,0,53122,0,0,0,4148,0,0,0,349900,0,0,,,,,0,69732,0,0,0,33080,0,0 -17-43115750-G-A,17,43115750,rs80356880,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr37Ile,p.Thr37Ile,c.110C>T,missense_variant,not provided,868148,,1,833090,0.0000012003505023466853,0,0,,,25.6,0.714,0.0100,-0.0100,8.72,0.00,0.716,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43115750-G-C,17,43115750,rs80356880,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr37Arg,p.Thr37Arg,c.110C>G,missense_variant,Pathogenic/Likely pathogenic,54132,,2,985252,0.00000202993751852318,0,0,,,24.9,0.802,0.0100,0.0100,8.72,0.00,0.917,2,57220,0,0,0,16240,0,0,0,8624,0,0,0,8830,0,0,0,10886,0,0,0,1936,0,0,0,829920,0,0,0,912,0,0,0,21296,0,0,0,29388,0,0 -17-43115753-G-T,17,43115753,rs183557525,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser36Tyr,p.Ser36Tyr,c.107C>A,missense_variant,Uncertain significance,219742,,1,833098,0.0000012003389757267452,0,0,,,25.7,0.922,0.00,0.00,8.72,0.00,0.961,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 -17-43115754-A-T,17,43115754,rs905812561,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser36Thr,p.Ser36Thr,c.106T>A,missense_variant,Conflicting interpretations of pathogenicity,489704,,1,628356,0.0000015914545257783803,0,0,,,24.7,0.605,0.00,0.00,6.28,0.00,0.877,0,17692,0,0,0,43686,0,0,0,20958,0,0,0,36040,0,0,0,53114,0,0,0,4148,0,0,1,349902,0,0,,,,,0,69736,0,0,0,33080,0,0 -17-43115756-A-C,17,43115756,rs1235706456,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val35Gly,p.Val35Gly,c.104T>G,missense_variant,not provided,867805,,1,628368,0.0000015914241336287016,0,0,,,25.6,0.817,0.00,-0.0100,6.28,0.00,0.939,0,17692,0,0,0,43686,0,0,0,20958,0,0,0,36040,0,0,0,53120,0,0,0,4148,0,0,0,349902,0,0,,,,,1,69740,0,0,0,33082,0,0 -17-43115757-CA-C,17,43115757,rs886039922,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val35SerfsTer15,p.Val35SerfsTer15,c.102del,frameshift_variant,Pathogenic,266132,,1,833096,0.0000012003418573609765,0,0,,,23.9,,0.0100,0.0100,5.71,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 -17-43115759-G-C,17,43115759,rs786203319,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Arg,p.Pro34Arg,c.101C>G,missense_variant,Likely pathogenic,867486,,2,1461432,0.0000013685207385632722,0,0,nfe,2.999999999999999e-7,25.3,0.850,0.00,0.00,8.72,0.00,0.852,0,33476,0,0,0,44676,0,0,0,26106,0,0,0,39668,0,0,0,53394,0,0,0,5766,0,0,2,1111772,0,0,,,,,0,86198,0,0,0,60376,0,0 -17-43115759-G-A,17,43115759,rs786203319,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Leu,p.Pro34Leu,c.101C>T,missense_variant,Conflicting interpretations of pathogenicity,186913,,5,1461432,0.0000034213018464081804,0,0,nfe,0.0000013199999999999999,26.5,0.837,0.0100,-0.0100,8.72,0.00,0.191,0,33476,0,0,0,44676,0,0,0,26106,0,0,0,39668,0,0,0,53394,0,0,0,5766,0,0,5,1111772,0,0,,,,,0,86198,0,0,0,60376,0,0 -17-43115760-G-A,17,43115760,rs1064793357,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Ser,p.Pro34Ser,c.100C>T,missense_variant,Conflicting interpretations of pathogenicity,418671,,1,628312,0.0000015915659735927374,0,0,,,25.8,0.847,0.0100,-0.0200,8.72,0.00,0.903,0,17690,0,0,0,43692,0,0,0,20960,0,0,0,36040,0,0,0,53114,0,0,0,4148,0,0,1,349864,0,0,,,,,0,69732,0,0,0,33072,0,0 -17-43115762-T-G,17,43115762,rs876660844,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu33Ala,p.Glu33Ala,c.98A>C,missense_variant,Uncertain significance,234092,,1,628348,0.0000015914747878564107,0,0,,,27.6,0.708,0.0600,-0.0200,6.30,0.00,0.966,0,17690,0,0,0,43696,0,0,0,20960,0,0,0,36040,0,0,0,53116,0,0,0,4148,0,0,1,349882,0,0,,,,,0,69736,0,0,0,33080,0,0 -17-43115764-C-T,17,43115764,rs1597912013,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys32Lys,p.Lys32Lys,c.96G>A,synonymous_variant,Likely benign,868134,,1,152048,0.000006576870461959381,0,0,,,8.92,,0.0100,-0.0200,1.10,,,1,41402,0,0,0,15248,0,0,0,3470,0,0,0,5194,0,0,0,10588,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 -17-43115767-G-T,17,43115767,rs80357000,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile31Ile,p.Ile31Ile,c.93C>A,synonymous_variant,Likely benign,867790,,2,628258,0.0000031834055435824137,0,0,,,10.9,,0.0400,-0.0200,3.37,,,0,17690,0,0,0,43698,0,0,0,20958,0,0,0,36040,0,0,0,53100,0,0,0,4146,0,0,1,349832,0,0,,,,,0,69724,0,0,1,33070,0,0 -17-43115767-G-C,17,43115767,rs80357000,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile31Met,p.Ile31Met,c.93C>G,missense_variant,Conflicting interpretations of pathogenicity,55760,,1,152056,0.000006576524438364813,0,0,,,23.7,0.564,0.00,0.00,3.37,,,0,41386,0,0,0,15250,0,0,0,3470,0,0,0,5196,0,0,0,10602,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 -17-43115774-T-C,17,43115774,rs773841328,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu29Gly,p.Glu29Gly,c.86A>G,missense_variant,Conflicting interpretations of pathogenicity,231722,,3,1613172,0.000001859690101241529,0,0,nfe,6.800000000000001e-7,33.0,0.731,0.160,-0.0600,6.30,0.00,0.909,0,74848,0,0,0,59898,0,0,0,29574,0,0,0,44858,0,0,0,63946,0,0,0,6084,0,0,3,1179630,0,0,0,906,0,0,0,90980,0,0,0,62448,0,0 -17-43115778-G-A,17,43115778,rs1219301058,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu28Leu,p.Leu28Leu,c.82C>T,splice_region_variant,Likely benign,827566,,1,628014,0.0000015923211902919362,0,0,,,12.1,,0.00,0.00,1.17,,,1,17684,0,0,0,43664,0,0,0,20946,0,0,0,36036,0,0,0,53080,0,0,0,4146,0,0,0,349724,0,0,,,,,0,69680,0,0,0,33054,0,0 -17-43115779-A-G,17,43115779,rs587780805,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys27Cys,p.Cys27Cys,c.81T>C,splice_region_variant,Likely benign,136093,,3,1461092,0.0000020532587954762604,0,0,nfe,7.200000000000001e-7,15.4,,0.00,-0.0200,0.736,,,0,33468,0,0,0,44646,0,0,0,26098,0,0,0,39666,0,0,0,53370,0,0,0,5766,0,0,3,1111578,0,0,,,,,0,86144,0,0,0,60356,0,0 -17-43115780-C-T,17,43115780,rs80358018,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-1G>A,,c.81-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,91668,,1,628006,0.0000015923414744445118,0,0,,,33.0,,0.960,-0.860,8.82,,,0,17684,0,0,0,43652,0,0,0,20946,0,0,0,36034,0,0,0,53094,0,0,0,4148,0,0,1,349716,0,0,,,,,0,69678,0,0,0,33054,0,0 -17-43115783-G-A,17,43115783,rs1000484532,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-4C>T,,c.81-4C>T,splice_region_variant,Likely benign,795825,,1,627736,0.0000015930263677724393,0,0,,,7.22,,0.0100,-0.0100,2.17,,,0,17666,0,0,0,43612,0,0,0,20934,0,0,0,36030,0,0,0,53046,0,0,0,4142,0,0,1,349612,0,0,,,,,0,69646,0,0,0,33048,0,0 -17-43115785-A-G,17,43115785,rs80358179,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-6T>C,,c.81-6T>C,splice_region_variant,Conflicting interpretations of pathogenicity,37703,,71,1612614,0.00004402789508214613,1,0,nfe,0.00004538,0.267,,0.00,-0.0100,0.268,,,0,74896,0,0,0,59810,0,0,0,29556,0,0,0,44852,0,0,0,63934,0,0,0,6080,0,0,67,1179312,1,0,0,912,0,0,0,90840,0,0,4,62422,0,0 -17-43115788-G-C,17,43115788,rs80358127,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-9C>G,,c.81-9C>G,intron_variant,Pathogenic,55719,,1,626848,0.0000015952830670274133,0,0,,,23.3,,1.00,0.870,0.140,,,0,17628,0,0,0,43436,0,0,0,20916,0,0,1,36032,0,0,0,53006,0,0,0,4142,0,0,0,349344,0,0,,,,,0,69326,0,0,0,33018,0,0 -17-43115789-TA-T,17,43115789,rs273902788,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-11del,,c.81-11del,intron_variant,Benign,37699,,83,1611344,0.00005150979554955367,0,0,nfe,0.00004622,0.607,,0.00,0.00,-1.47,,,5,74746,0,0,3,59610,0,0,0,29538,0,0,3,44830,0,0,0,63830,0,0,1,6076,0,0,68,1178868,0,0,0,912,0,0,2,90550,0,0,1,62384,0,0 -17-43115789-T-G,17,43115789,rs548497799,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-10A>C,,c.81-10A>C,intron_variant,not provided,867453,,3,1611464,0.0000018616611975197708,0,0,sas,0.0000088,0.432,,0.00,0.00,-1.47,,,0,74868,0,0,0,59630,0,0,0,29538,0,0,0,44818,0,0,0,63830,0,0,0,6054,0,0,0,1178860,0,0,0,912,0,0,3,90548,0,0,0,62406,0,0 -17-43115789-T-C,17,43115789,rs548497799,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-10A>G,,c.81-10A>G,intron_variant,not provided,867454,,1,1459422,6.852027720563346e-7,0,0,,,0.615,,0.0100,0.00,-1.47,,,0,33400,0,0,0,44382,0,0,0,26070,0,0,0,39642,0,0,0,53260,0,0,0,5760,0,0,1,1110876,0,0,,,,,0,85734,0,0,0,60298,0,0 -17-43115790-A-G,17,43115790,rs767144634,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-11T>C,,c.81-11T>C,intron_variant,Likely benign,632617,,2,1458596,0.0000013711816020337365,0,0,nfe,2.999999999999999e-7,1.78,,0.0100,0.00,-0.193,,,0,33356,0,0,0,44340,0,0,0,26056,0,0,0,39634,0,0,0,53222,0,0,0,5758,0,0,2,1110290,0,0,,,,,0,85672,0,0,0,60268,0,0 -17-43115790-A-AG,17,43115790,rs273902789,A,AG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-12dup,,c.81-12dup,intron_variant,Benign/Likely benign,125523,,29,1610606,0.00001800564508017479,0,0,afr,0.000017480000000000002,1.03,,0.00,0.00,-0.193,,,4,74786,0,0,2,59578,0,0,0,29524,0,0,1,44830,0,0,5,63786,0,0,0,6074,0,0,14,1178276,0,0,0,912,0,0,2,90484,0,0,1,62356,0,0 -17-43115790-AG-A,17,43115790,rs273902789,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-12del,,c.81-12del,intron_variant,Benign/Likely benign,91667,,9,1458538,0.00000617056257704633,0,0,nfe,0.00000381,1.04,,0.00,0.00,-0.193,,,0,33354,0,0,0,44338,0,0,0,26050,0,0,0,39632,0,0,0,53216,0,0,0,5758,0,0,9,1110256,0,0,,,,,0,85670,0,0,0,60264,0,0 -17-43115791-G-C,17,43115791,rs80358055,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-12C>G,,c.81-12C>G,intron_variant,Benign/Likely benign,91666,,191,1607290,0.00011883356457142147,0,0,afr,0.0019435699999999995,2.43,,0.0100,-0.0200,0.359,,,166,74786,0,0,13,59460,0,0,0,29454,0,0,0,44752,0,0,0,63620,0,0,0,6042,0,0,0,1175802,0,0,0,912,0,0,0,90240,0,0,12,62222,0,0 -17-43115792-G-A,17,43115792,rs56328013,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-13C>T,,c.81-13C>T,intron_variant,Conflicting interpretations of pathogenicity,415599,,4,1458650,0.0000027422616803208445,0,0,,,1.73,,0.00,0.00,-0.369,,,0,33380,0,0,1,44298,0,0,0,26060,0,0,1,39630,0,0,0,53216,0,0,1,5756,0,0,0,1110428,0,0,,,,,1,85626,0,0,0,60256,0,0 -17-43115792-G-C,17,43115792,rs56328013,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-13C>G,,c.81-13C>G,intron_variant,Benign,37701,,271,1610802,0.0001682391752679721,2,0,afr,0.002669070000000001,4.46,,0.00,-0.0400,-0.369,,,224,74902,2,0,16,59558,0,0,0,29526,0,0,0,44816,0,0,0,63794,0,0,1,6050,0,0,10,1178438,0,0,0,912,0,0,4,90446,0,0,16,62360,0,0 -17-43115792-G-T,17,43115792,rs56328013,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-13C>A,,c.81-13C>A,intron_variant,Benign/Likely benign,37700,,60,1610800,0.00003724857213806804,0,0,afr,0.0005198600000000002,3.23,,0.0100,-0.0200,-0.369,,,50,74900,0,0,4,59558,0,0,0,29526,0,0,0,44816,0,0,0,63794,0,0,0,6050,0,0,4,1178438,0,0,0,912,0,0,1,90446,0,0,1,62360,0,0 -17-43115793-G-T,17,43115793,rs80358006,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>A,,c.81-14C>A,intron_variant,Likely benign,792545,,2,1610524,0.0000012418318510000472,0,0,,,0.592,,0.0200,-0.0200,-5.25,,,1,74764,0,0,0,59534,0,0,0,29524,0,0,0,44822,0,0,0,63786,0,0,0,6074,0,0,0,1178340,0,0,0,910,0,0,1,90424,0,0,0,62346,0,0 -17-43115793-G-A,17,43115793,rs80358006,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>T,,c.81-14C>T,intron_variant,Benign,37702,,1064,1610512,0.0006606594672998401,2,0,nfe,0.00077949,0.244,,0.00,0.00,-5.25,,,6,74764,0,0,39,59534,0,0,1,29524,0,0,0,44822,0,0,8,63786,0,0,0,6074,0,0,970,1178330,2,0,0,910,0,0,0,90424,0,0,40,62344,0,0 -17-43115793-G-C,17,43115793,rs80358006,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>G,,c.81-14C>G,intron_variant,Likely benign,225762,,11,1610524,0.0000068300751805002596,0,0,amr,0.000054719999999999984,0.485,,0.0100,-0.0300,-5.25,,,0,74764,0,0,7,59534,0,0,0,29524,0,0,0,44822,0,0,0,63786,0,0,1,6074,0,0,0,1178340,0,0,0,910,0,0,3,90424,0,0,0,62346,0,0 -17-43115795-G-T,17,43115795,rs1057520829,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-16C>A,,c.81-16C>A,intron_variant,Likely benign,380343,,2,1456400,0.0000013732491073880802,0,0,,,0.126,,0.0300,-0.0200,-1.12,,,0,33292,0,0,0,44100,0,0,0,26010,0,0,1,39608,0,0,0,53118,0,0,0,5760,0,0,1,1108918,0,0,,,,,0,85378,0,0,0,60216,0,0 -17-43115796-G-C,17,43115796,rs757442952,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-17C>G,,c.81-17C>G,intron_variant,Conflicting interpretations of pathogenicity,215877,,27,1607824,0.000016792882803092876,0,0,amr,0.00032113000000000025,0.0380,,0.0400,-0.0300,-1.12,,,0,74612,0,0,27,59208,0,0,0,29462,0,0,0,44798,0,0,0,63684,0,0,0,6060,0,0,0,1176738,0,0,0,912,0,0,0,90068,0,0,0,62282,0,0 -17-43115797-G-A,17,43115797,rs864622534,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-18C>T,,c.81-18C>T,intron_variant,Likely benign,868767,,2,1455846,0.000001373771676399839,0,0,,,0.00700,,0.00,0.00,-0.123,,,0,33248,0,0,0,44032,0,0,0,26010,0,0,1,39586,0,0,0,53096,0,0,0,5758,0,0,1,1108628,0,0,,,,,0,85318,0,0,0,60170,0,0 -17-43115798-A-T,17,43115798,rs1567818131,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-19T>A,,c.81-19T>A,intron_variant,not provided,867759,,1,623652,0.0000016034583389454375,0,0,,,2.64,,0.0700,-0.0200,-0.144,,,0,17486,0,0,0,42926,0,0,0,20838,0,0,0,35988,0,0,0,52786,0,0,0,4140,0,0,0,347824,0,0,,,,,1,68786,0,0,0,32878,0,0 -17-43115799-G-A,17,43115799,rs80358039,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-20C>T,,c.81-20C>T,intron_variant,Conflicting interpretations of pathogenicity,125525,,3,1453816,0.000002063534862733661,0,0,nfe,7.200000000000001e-7,0.114,,0.00,0.00,0.0680,,,0,33208,0,0,0,43860,0,0,0,25980,0,0,0,39580,0,0,0,53042,0,0,0,5754,0,0,3,1107166,0,0,,,,,0,85122,0,0,0,60104,0,0 -17-43115804-A-C,17,43115804,rs775851068,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-25T>G,,c.81-25T>G,intron_variant,,,,1,1451470,6.889567128497317e-7,0,0,,,0.918,,0.0400,-0.0200,1.24,,,0,33158,0,0,0,43950,0,0,0,25956,0,0,0,39564,0,0,0,52978,0,0,0,5752,0,0,1,1105078,0,0,,,,,0,85008,0,0,0,60026,0,0 -17-43115805-G-T,17,43115805,rs781513700,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-26C>A,,c.81-26C>A,intron_variant,,,,8,1596890,0.000005009737677610856,0,0,amr,0.000055239999999999986,0.344,,0.0300,-0.0100,-0.644,,,0,74384,0,0,7,58898,0,0,0,29336,0,0,0,44656,0,0,0,63408,0,0,0,6064,0,0,1,1167882,0,0,0,912,0,0,0,89408,0,0,0,61942,0,0 -17-43115806-A-G,17,43115806,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-27T>C,,c.81-27T>C,intron_variant,,,,1,824712,0.0000012125445003831641,0,0,,,6.21,,0.0200,-0.0100,1.80,,,0,15596,0,0,0,970,0,0,0,5084,0,0,0,3588,0,0,0,272,0,0,0,1614,0,0,1,754234,0,0,,,,,0,16288,0,0,0,27066,0,0 -17-43115809-A-G,17,43115809,rs746061260,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-30T>C,,c.81-30T>C,intron_variant,,,,6,1442538,0.000004159335837253507,0,0,sas,0.000023260000000000004,8.22,,0.00,-0.0100,2.01,,,0,32938,0,0,0,43834,0,0,0,25862,0,0,0,39440,0,0,0,52722,0,0,0,5726,0,0,1,1097612,0,0,,,,,5,84644,0,0,0,59760,0,0 -17-43115815-G-A,17,43115815,rs2154565987,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-36C>T,,c.81-36C>T,intron_variant,,,,1,1426652,7.009417853828404e-7,0,0,,,0.00200,,0.00,0.00,-3.36,,,0,32440,0,0,0,43182,0,0,0,25680,0,0,0,39108,0,0,0,52176,0,0,0,5696,0,0,1,1085568,0,0,,,,,0,83644,0,0,0,59158,0,0 -17-43115818-G-C,17,43115818,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-39C>G,,c.81-39C>G,intron_variant,,,,1,1415626,7.064012670013125e-7,0,0,,,0.251,,0.00,0.00,0.392,,,0,32106,0,0,0,42650,0,0,0,25550,0,0,0,38842,0,0,0,51744,0,0,0,5670,0,0,0,1077384,0,0,,,,,0,82918,0,0,1,58762,0,0 -17-43115819-C-T,17,43115819,rs756327180,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-40G>A,,c.81-40G>A,intron_variant,,,,2,1414820,0.0000014136073846849775,0,0,,,0.266,,0.00,0.00,-0.705,,,0,32050,0,0,0,42466,0,0,0,25542,0,0,0,38750,0,0,0,51698,0,0,0,5658,0,0,1,1077108,0,0,,,,,1,82822,0,0,0,58726,0,0 -17-43115820-T-A,17,43115820,rs2154565998,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-41A>T,,c.81-41A>T,intron_variant,,,,3,1402342,0.000002139278435645513,0,0,nfe,7.5e-7,5.50,,0.00,0.00,0.112,,,0,31748,0,0,0,42220,0,0,0,25456,0,0,0,38580,0,0,0,51506,0,0,0,5632,0,0,3,1066568,0,0,,,,,0,82374,0,0,0,58258,0,0 -17-43115823-A-G,17,43115823,rs1369514666,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-44T>C,,c.81-44T>C,intron_variant,,,,2,602400,0.0000033200531208499336,0,0,,,2.05,,0.00,0.00,-0.629,,,0,16564,0,0,0,40878,0,0,2,20456,0,0,0,34862,0,0,0,50964,0,0,0,4078,0,0,0,336356,0,0,,,,,0,66248,0,0,0,31994,0,0 -17-43115827-T-C,17,43115827,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-48A>G,,c.81-48A>G,intron_variant,,,,1,807042,0.0000012390928848808365,0,0,,,6.88,,0.00,0.00,0.364,,,0,15238,0,0,0,946,0,0,0,4986,0,0,1,3490,0,0,0,272,0,0,0,1564,0,0,0,738154,0,0,,,,,0,15904,0,0,0,26488,0,0 -17-43115828-T-G,17,43115828,rs2055270926,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-49A>C,,c.81-49A>C,intron_variant,,,,1,1400880,7.138370167323397e-7,0,0,,,12.3,,0.0100,0.00,0.858,,,1,31468,0,0,0,40890,0,0,0,25330,0,0,0,37766,0,0,0,50472,0,0,0,5590,0,0,0,1069844,0,0,,,,,0,81358,0,0,0,58162,0,0 -17-43115831-T-A,17,43115831,rs2154566014,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-52A>T,,c.81-52A>T,intron_variant,,,,1,590072,0.0000016947084423595765,0,0,,,9.00,,0.00,0.00,0.888,,,0,16124,0,0,0,39258,0,0,0,20284,0,0,0,33984,0,0,0,49728,0,0,0,4004,0,0,0,330126,0,0,,,,,1,65056,0,0,0,31508,0,0 -17-43115834-A-G,17,43115834,rs763395672,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-55T>C,,c.81-55T>C,intron_variant,,,,121,1529986,0.00007908569098017891,0,0,amr,0.00056462,7.14,,0.00,0.00,0.0100,,,3,72422,0,0,41,54964,0,0,40,28596,0,0,0,42292,0,0,0,60106,0,0,1,5816,0,0,31,1120294,0,0,0,912,0,0,1,85172,0,0,4,59412,0,0 -17-43115834-A-T,17,43115834,rs763395672,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-55T>A,,c.81-55T>A,intron_variant,,,,1,1377776,7.258073881385654e-7,0,0,,,6.68,,0.00,0.00,0.0100,,,0,30966,0,0,0,39698,0,0,0,25130,0,0,0,37092,0,0,0,49480,0,0,0,5500,0,0,1,1052254,0,0,,,,,0,80336,0,0,0,57320,0,0 -17-43115836-A-G,17,43115836,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-57T>C,,c.81-57T>C,intron_variant,,,,1,581228,0.0000017204952273462394,0,0,,,10.3,,0.00,0.00,1.49,,,0,15922,0,0,0,38144,0,0,0,20194,0,0,0,33360,0,0,0,48526,0,0,0,3922,0,0,1,325624,0,0,,,,,0,64328,0,0,0,31208,0,0 -17-43115839-T-C,17,43115839,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-60A>G,,c.81-60A>G,intron_variant,,,,3,578234,0.000005188211001082607,0,0,sas,0.00000517,4.58,,0.00,0.00,-0.0180,,,0,15850,0,0,0,37688,0,0,0,20148,0,0,1,33188,0,0,0,48048,0,0,0,3860,0,0,0,324248,0,0,,,,,2,64128,0,0,0,31076,0,0 -17-43115840-AAAGCT-A,17,43115840,rs1361097879,AAAGCT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-66_81-62del,,c.81-66_81-62del,intron_variant,,,,33,728680,0.000045287368941098973,0,0,,,4.60,,0.00,0.00,0.669,,,0,57228,0,0,0,52644,0,0,0,23556,0,0,0,38328,0,0,32,58504,0,0,0,4142,0,0,1,391526,0,0,0,910,0,0,0,68752,0,0,0,33090,0,0 -17-43115843-G-T,17,43115843,rs1037984680,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-64C>A,,c.81-64C>A,intron_variant,,,,14,721764,0.000019396921985579773,0,0,amr,0.00016397999999999999,0.359,,0.00,0.00,-1.35,,,0,57046,0,0,14,51542,0,0,0,23450,0,0,0,37982,0,0,0,57294,0,0,0,4014,0,0,0,388502,0,0,0,912,0,0,0,68206,0,0,0,32816,0,0 -17-43115844-C-A,17,43115844,rs80358117,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-65G>T,,c.81-65G>T,intron_variant,,,,1,1348644,7.414855217537022e-7,0,0,,,0.499,,0.00,0.00,-0.298,,,0,30236,0,0,0,37228,0,0,0,24818,0,0,0,36148,0,0,1,46956,0,0,0,5204,0,0,0,1033074,0,0,,,,,0,78744,0,0,0,56236,0,0 -17-43115844-C-G,17,43115844,rs80358117,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-65G>C,,c.81-65G>C,intron_variant,Benign,125526,,557,1500732,0.0003711522110543388,0,0,nfe,0.00044403,0.545,,0.00,0.00,-0.298,,,3,71656,0,0,5,52486,0,0,1,28290,0,0,0,41340,0,0,0,57536,0,0,0,5520,0,0,527,1101104,0,0,0,908,0,0,1,83568,0,0,20,58324,0,0 -17-43115848-T-G,17,43115848,rs2055272081,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-69A>C,,c.81-69A>C,intron_variant,,,,1,563842,0.0000017735464899741417,0,0,,,3.63,,0.00,0.00,-0.0780,,,0,15482,0,0,0,35520,0,0,0,19886,0,0,0,32530,0,0,0,45568,0,0,0,3558,0,0,0,317944,0,0,,,,,1,62846,0,0,0,30508,0,0 -17-43115848-T-C,17,43115848,rs2055272081,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.81-69A>G,,c.81-69A>G,intron_variant,,,,1,152182,0.0000065710793654965765,0,0,,,3.86,,0.00,0.00,-0.0780,,,0,41444,0,0,0,15260,0,0,0,3468,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,1,68048,0,0,0,910,0,0,0,4834,0,0,0,2092,0,0 -17-43115851-T-C,17,43115851,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-72A>G,,c.81-72A>G,intron_variant,,,,1,1323602,7.55514119803385e-7,0,0,,,4.27,,0.00,0.00,0.808,,,0,29612,0,0,0,36154,0,0,0,24590,0,0,0,35670,0,0,0,45272,0,0,0,4994,0,0,1,1014300,0,0,,,,,0,77618,0,0,0,55392,0,0 -17-43123945-G-C,17,43123945,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+72C>G,,c.80+72C>G,intron_variant,,,,5,1060120,0.000004716447194657209,0,0,nfe,0.00000196,0.878,,0.00,0.00,-0.0150,,,0,25360,0,0,0,43614,0,0,0,23564,0,0,0,37644,0,0,0,52936,0,0,0,4944,0,0,5,747422,0,0,,,,,0,77544,0,0,0,47092,0,0 -17-43123945-G-A,17,43123945,rs2055707234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+72C>T,,c.80+72C>T,intron_variant,,,,1,1060120,9.432894389314417e-7,0,0,,,1.04,,0.00,0.00,-0.0150,,,0,25360,0,0,0,43614,0,0,0,23564,0,0,0,37644,0,0,0,52936,0,0,0,4944,0,0,1,747422,0,0,,,,,0,77544,0,0,0,47092,0,0 -17-43123947-T-C,17,43123947,rs2154576208,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+70A>G,,c.80+70A>G,intron_variant,,,,1,1075962,9.294008524464618e-7,0,0,,,14.6,,0.00,0.00,0.636,,,0,25708,0,0,0,43708,0,0,0,23684,0,0,0,37770,0,0,0,53004,0,0,0,4974,0,0,0,761592,0,0,,,,,0,77940,0,0,1,47582,0,0 -17-43123948-C-T,17,43123948,rs2154576211,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+69G>A,,c.80+69G>A,intron_variant,,,,3,1092024,0.0000027471923693984747,0,0,nfe,0.00000103,10.1,,0.00,0.00,2.56,,,0,26024,0,0,0,43752,0,0,0,23776,0,0,0,37834,0,0,0,53014,0,0,0,5004,0,0,3,776352,0,0,,,,,0,78136,0,0,0,48132,0,0 -17-43123950-A-G,17,43123950,rs2055707384,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+67T>C,,c.80+67T>C,intron_variant,,,,12,1269420,0.00000945313607789384,0,0,nfe,0.00000488,7.41,,0.00,0.00,-1.34,,,2,67966,0,0,0,59184,0,0,0,27390,0,0,0,43166,0,0,0,63708,0,0,0,5376,0,0,9,867152,0,0,0,912,0,0,1,83586,0,0,0,50980,0,0 -17-43123953-C-T,17,43123953,rs1261539033,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+64G>A,,c.80+64G>A,intron_variant,,,,2,1132764,0.0000017655928331055719,0,0,sas,0.0000042,14.8,,0.00,0.00,2.22,,,0,26776,0,0,0,43972,0,0,0,24010,0,0,0,38054,0,0,0,53092,0,0,0,5096,0,0,0,813292,0,0,,,,,2,79062,0,0,0,49410,0,0 -17-43123956-T-C,17,43123956,rs2154576244,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+61A>G,,c.80+61A>G,intron_variant,,,,2,1165168,0.0000017164906691567224,0,0,,,9.98,,0.00,-0.0100,0.115,,,0,27396,0,0,0,44118,0,0,0,24308,0,0,0,38244,0,0,0,53148,0,0,1,5162,0,0,0,842350,0,0,,,,,1,79888,0,0,0,50554,0,0 -17-43123958-C-T,17,43123958,rs2055707661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+59G>A,,c.80+59G>A,intron_variant,,,,2,1180652,0.0000016939792589179539,0,0,nfe,3.900000000000001e-7,13.2,,0.00,0.00,1.83,,,0,27796,0,0,0,44140,0,0,0,24400,0,0,0,38294,0,0,0,53154,0,0,0,5192,0,0,2,856364,0,0,,,,,0,80172,0,0,0,51140,0,0 -17-43123959-A-G,17,43123959,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+58T>C,,c.80+58T>C,intron_variant,,,,1,569164,0.0000017569628437497803,0,0,,,13.1,,0.00,-0.0100,0.652,,,0,10456,0,0,0,636,0,0,0,3586,0,0,0,2436,0,0,0,186,0,0,0,1116,0,0,1,521086,0,0,,,,,0,10958,0,0,0,18704,0,0 -17-43123960-T-C,17,43123960,rs2055707821,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.80+57A>G,,c.80+57A>G,intron_variant,,,,1,152254,0.000006567971941623865,0,0,,,11.8,,0.00,0.00,0.409,,,0,41472,0,0,0,15284,0,0,0,3472,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 -17-43123963-G-T,17,43123963,rs778400582,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+54C>A,,c.80+54C>A,intron_variant,,,,2,578162,0.000003459238068223093,0,0,nfe,6.300000000000001e-7,8.00,,0.00,0.00,0.495,,,0,10566,0,0,0,652,0,0,0,3634,0,0,0,2468,0,0,0,188,0,0,0,1140,0,0,2,529404,0,0,,,,,0,11148,0,0,0,18962,0,0 -17-43123965-A-G,17,43123965,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+52T>C,,c.80+52T>C,intron_variant,,,,1,627114,0.0000015946064033014732,0,0,,,7.59,,0.00,-0.0100,-0.267,,,0,17630,0,0,0,43652,0,0,0,20926,0,0,0,35966,0,0,0,53048,0,0,0,4110,0,0,0,349136,0,0,,,,,0,69642,0,0,1,33004,0,0 -17-43123966-T-C,17,43123966,rs180905862,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+51A>G,,c.80+51A>G,intron_variant,Likely benign,1325680,,125,1380264,0.0000905623851668956,0,0,afr,0.0012377,10.3,,0.00,0.00,-1.11,,,103,70190,0,0,10,59654,0,0,0,28176,0,0,1,43734,0,0,0,63886,0,0,0,5588,0,0,2,967344,0,0,0,912,0,0,0,86064,0,0,9,54716,0,0 -17-43123967-A-G,17,43123967,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+50T>C,,c.80+50T>C,intron_variant,,,,3,1235098,0.000002428957054419973,0,0,nfe,3.7000000000000006e-7,4.45,,0.00,-0.0100,0.0680,,,0,28758,0,0,0,44376,0,0,0,24742,0,0,0,38578,0,0,0,53256,0,0,1,5318,0,0,2,905770,0,0,,,,,0,81394,0,0,0,52906,0,0 -17-43123969-G-A,17,43123969,rs200513210,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+48C>T,,c.80+48C>T,intron_variant,Likely benign,2179197,,27,1400082,0.000019284584760035482,0,0,eas,0.0002646000000000002,3.46,,0.00,0.00,-0.651,,,0,70558,0,0,0,59706,0,0,0,28260,0,0,18,43814,0,0,0,63856,0,0,0,5640,0,0,3,985456,0,0,0,912,0,0,5,86488,0,0,1,55392,0,0 -17-43123970-A-C,17,43123970,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+47T>G,,c.80+47T>G,intron_variant,,,,1,623846,0.0000016029597047989408,0,0,,,5.83,,0.0100,-0.0100,0.938,,,0,11458,0,0,0,728,0,0,0,3870,0,0,0,2676,0,0,0,202,0,0,0,1236,0,0,0,571230,0,0,,,,,1,12066,0,0,0,20380,0,0 -17-43123971-G-C,17,43123971,rs2055708596,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+46C>G,,c.80+46C>G,intron_variant,,,,1,646268,0.000001547345683215013,0,0,,,0.0720,,0.00,0.00,-1.34,,,0,11908,0,0,0,750,0,0,0,4010,0,0,0,2762,0,0,0,214,0,0,0,1270,0,0,0,591756,0,0,,,,,1,12520,0,0,0,21078,0,0 -17-43123971-G-T,17,43123971,rs2055708596,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+46C>A,,c.80+46C>A,intron_variant,,,,1,646264,0.0000015473552603889433,0,0,,,0.0670,,0.00,0.00,-1.34,,,0,11908,0,0,0,750,0,0,0,4010,0,0,0,2762,0,0,0,214,0,0,0,1270,0,0,1,591754,0,0,,,,,0,12518,0,0,0,21078,0,0 -17-43123973-T-A,17,43123973,rs2154576304,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+44A>T,,c.80+44A>T,intron_variant,,,,1,627770,0.000001592940089523233,0,0,,,0.969,,0.00,0.00,-0.235,,,0,17660,0,0,0,43708,0,0,0,20940,0,0,0,35984,0,0,0,53078,0,0,0,4128,0,0,0,349506,0,0,,,,,0,69724,0,0,1,33042,0,0 -17-43123979-T-C,17,43123979,rs768583394,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+38A>G,,c.80+38A>G,intron_variant,,,,8,1345198,0.000005947079909425973,0,0,nfe,0.0000034200000000000003,0.191,,0.00,0.00,-2.75,,,0,30930,0,0,0,44538,0,0,0,25416,0,0,0,39068,0,0,0,53340,0,0,0,5536,0,0,8,1006214,0,0,,,,,0,83708,0,0,0,56448,0,0 -17-43123979-T-G,17,43123979,rs768583394,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+38A>C,,c.80+38A>C,intron_variant,,,,3,1345198,0.00000223015496603474,0,0,nfe,7.899999999999998e-7,0.168,,0.0100,-0.0100,-2.75,,,0,30930,0,0,0,44538,0,0,0,25416,0,0,0,39068,0,0,0,53340,0,0,0,5536,0,0,3,1006214,0,0,,,,,0,83708,0,0,0,56448,0,0 -17-43123980-A-G,17,43123980,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+37T>C,,c.80+37T>C,intron_variant,,,,1,718418,0.0000013919473064427672,0,0,,,9.54,,0.0100,-0.0100,0.618,,,0,13326,0,0,0,822,0,0,0,4472,0,0,0,3094,0,0,0,248,0,0,0,1404,0,0,1,657624,0,0,,,,,0,13974,0,0,0,23454,0,0 -17-43123986-C-A,17,43123986,rs2154576342,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+31G>T,,c.80+31G>T,intron_variant,,,,1,1388858,7.200160131561326e-7,0,0,,,3.53,,0.00,0.00,-0.460,,,0,31852,0,0,0,44600,0,0,0,25688,0,0,1,39342,0,0,0,53384,0,0,0,5620,0,0,0,1045922,0,0,,,,,0,84576,0,0,0,57874,0,0 -17-43123988-C-A,17,43123988,rs528170710,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+29G>T,,c.80+29G>T,intron_variant,,,,3,1557818,0.0000019257705328863832,0,0,amr,0.00001329,2.31,,0.00,0.00,-0.183,,,0,73728,0,0,3,59920,0,0,0,29252,0,0,0,44600,0,0,0,63994,0,0,0,5950,0,0,0,1129136,0,0,0,912,0,0,0,89714,0,0,0,60612,0,0 -17-43123989-AAATT-A,17,43123989,,AAATT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+24_80+27del,,c.80+24_80+27del,intron_variant,,,,1,782942,0.0000012772338180861419,0,0,,,5.13,,0.00,-0.0100,0.834,,,0,14644,0,0,0,906,0,0,0,4850,0,0,0,3412,0,0,0,264,0,0,0,1532,0,0,1,716438,0,0,,,,,0,15264,0,0,0,25632,0,0 -17-43123990-A-G,17,43123990,rs1213255171,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+27T>C,,c.80+27T>C,intron_variant,,,,1,628314,0.000001591560907444367,0,0,,,7.40,,0.0100,-0.0100,0.396,,,0,17680,0,0,0,43730,0,0,0,20972,0,0,0,36018,0,0,0,53126,0,0,0,4140,0,0,0,349808,0,0,,,,,1,69774,0,0,0,33066,0,0 -17-43123994-A-G,17,43123994,rs1447426729,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.80+23T>C,,c.80+23T>C,intron_variant,,,,1,152248,0.000006568230781356734,0,0,,,9.23,,0.0100,-0.0100,1.99,,,0,41476,0,0,0,15284,0,0,0,3470,0,0,1,5204,0,0,0,10624,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 -17-43123996-TAC-T,17,43123996,rs2154576389,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+19_80+20del,,c.80+19_80+20del,intron_variant,Likely benign,1616520,,1,800176,0.000001249725060486693,0,0,,,8.26,,0.00,0.00,1.21,,,0,15014,0,0,0,938,0,0,0,4948,0,0,0,3492,0,0,0,270,0,0,0,1578,0,0,1,732082,0,0,,,,,0,15692,0,0,0,26162,0,0 -17-43123996-T-C,17,43123996,rs2055709837,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+21A>G,,c.80+21A>G,intron_variant,,,,2,952548,0.0000020996317245955057,0,0,,,5.80,,0.00,0.00,1.21,,,0,56606,0,0,0,16242,0,0,0,8418,0,0,0,8688,0,0,0,10896,0,0,0,1872,0,0,0,800114,0,0,0,912,0,0,0,20522,0,0,2,28278,0,0 -17-43124000-C-G,17,43124000,rs540373654,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+17G>C,,c.80+17G>C,intron_variant,Likely benign,1118479,,1,1440588,6.941609953713345e-7,0,0,,,0.0660,,0.00,0.00,-0.0240,,,0,32980,0,0,0,44676,0,0,0,25994,0,0,0,39564,0,0,0,53402,0,0,0,5724,0,0,1,1092858,0,0,,,,,0,85750,0,0,0,59640,0,0 -17-43124000-C-T,17,43124000,rs540373654,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+17G>A,,c.80+17G>A,intron_variant,Likely benign,220318,,7,1592898,0.000004394506114013578,0,0,amr,0.00004285999999999998,0.0820,,0.00,0.00,-0.0240,,,0,74546,0,0,6,59970,0,0,0,29466,0,0,0,44756,0,0,0,64016,0,0,0,6018,0,0,0,1160880,0,0,0,912,0,0,1,90578,0,0,0,61756,0,0 -17-43124001-T-G,17,43124001,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+16A>C,,c.80+16A>C,intron_variant,,,,2,1442362,0.0000013866144560103496,0,0,nfe,2.999999999999999e-7,3.56,,0.00,0.00,0.324,,,0,33018,0,0,0,44682,0,0,0,26012,0,0,0,39564,0,0,0,53404,0,0,0,5730,0,0,2,1094444,0,0,,,,,0,85794,0,0,0,59714,0,0 -17-43124001-T-C,17,43124001,rs747618610,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+16A>G,,c.80+16A>G,intron_variant,Likely benign,491188,,17,1442362,0.000011786222876087972,0,0,sas,0.00011607999999999999,3.93,,0.0100,0.00,0.324,,,0,33018,0,0,0,44682,0,0,0,26012,0,0,0,39564,0,0,0,53404,0,0,0,5730,0,0,0,1094444,0,0,,,,,16,85794,0,0,1,59714,0,0 -17-43124002-C-G,17,43124002,rs771594437,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+15G>C,,c.80+15G>C,intron_variant,Likely benign,462690,,2,628380,0.0000031827874852796078,0,0,nfe,9.5e-7,2.29,,0.00,0.00,1.24,,,0,17680,0,0,0,43728,0,0,0,20974,0,0,0,36022,0,0,0,53130,0,0,0,4136,0,0,2,349866,0,0,,,,,0,69782,0,0,0,33062,0,0 -17-43124003-T-C,17,43124003,rs1555600851,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+14A>G,,c.80+14A>G,intron_variant,Likely benign,462689,,1,1444544,6.922599796198662e-7,0,0,,,3.56,,0.0200,-0.0300,-0.00700,,,0,33078,0,0,0,44690,0,0,0,26024,0,0,0,39574,0,0,0,53404,0,0,0,5732,0,0,1,1096404,0,0,,,,,0,85842,0,0,0,59796,0,0 -17-43124007-G-T,17,43124007,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+10C>A,,c.80+10C>A,intron_variant,,,,1,1449558,6.898654624375154e-7,0,0,,,1.64,,0.0100,-0.0100,0.0940,,,0,33188,0,0,0,44706,0,0,0,26062,0,0,0,39600,0,0,0,53402,0,0,0,5744,0,0,1,1100876,0,0,,,,,0,85990,0,0,0,59990,0,0 -17-43124009-T-C,17,43124009,rs1567823093,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+8A>G,,c.80+8A>G,splice_region_variant,,,,1,824498,0.0000012128592185790626,0,0,,,9.25,,0.00,0.00,1.41,,,0,15568,0,0,0,974,0,0,0,5096,0,0,0,3592,0,0,0,276,0,0,0,1606,0,0,1,754084,0,0,,,,,0,16280,0,0,0,27022,0,0 -17-43124010-G-A,17,43124010,rs80358098,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+7C>T,,c.80+7C>T,splice_region_variant,Conflicting interpretations of pathogenicity,125521,,3,1605640,0.0000018684138412097356,0,0,amr,0.00000553,7.48,,0.0100,-0.0100,0.327,,,0,74714,0,0,2,59972,0,0,0,29544,0,0,0,44810,0,0,0,64018,0,0,0,6060,0,0,0,1172520,0,0,0,912,0,0,0,90894,0,0,1,62196,0,0 -17-43124010-G-T,17,43124010,rs80358098,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+7C>A,,c.80+7C>A,splice_region_variant,Conflicting interpretations of pathogenicity,91665,,1,1453486,6.880011228178324e-7,0,0,,,6.58,,0.00,0.0100,0.327,,,0,33282,0,0,0,44706,0,0,0,26072,0,0,0,39616,0,0,0,53410,0,0,0,5744,0,0,1,1104484,0,0,,,,,0,86064,0,0,0,60108,0,0 -17-43124014-T-TA,17,43124014,rs397509324,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+2dup,,c.80+2dup,splice_region_variant,Uncertain significance,55711,,1,1456376,6.866358687591666e-7,0,0,,,23.8,,0.900,-0.880,1.88,,,0,33310,0,0,0,44712,0,0,0,26084,0,0,0,39628,0,0,0,53410,0,0,0,5744,0,0,0,1107144,0,0,,,,,1,86140,0,0,0,60204,0,0 -17-43124016-CCAGATGGGACA-C,17,43124016,rs80357696,CCAGATGGGACA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys24SerfsTer13,p.Cys24SerfsTer13,c.70_80del,frameshift_variant,Pathogenic,55676,,2,980696,0.0000020393679590821214,0,0,,,27.3,,0.990,-0.930,8.90,,,0,57088,0,0,0,16258,0,0,0,8588,0,0,0,8804,0,0,0,10880,0,0,0,1924,0,0,2,825810,0,0,0,912,0,0,0,21180,0,0,0,29252,0,0 -17-43124017-C-A,17,43124017,rs1064793052,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys27Phe,p.Cys27Phe,c.80G>T,missense_variant,Likely pathogenic,481469,,1,1457536,6.860894001932028e-7,0,0,,,35.0,0.957,0.740,-0.610,8.90,0.00,0.972,0,33356,0,0,0,44712,0,0,0,26100,0,0,0,39628,0,0,0,53410,0,0,0,5750,0,0,1,1108174,0,0,,,,,0,86156,0,0,0,60250,0,0 -17-43124019-G-A,17,43124019,rs1555600862,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile26Ile,p.Ile26Ile,c.78C>T,splice_region_variant,Likely benign,491187,,1,829808,0.0000012050980467770858,0,0,,,16.7,,0.0500,-0.0700,0.888,,,0,15694,0,0,0,978,0,0,0,5132,0,0,0,3614,0,0,0,276,0,0,0,1612,0,0,1,758908,0,0,,,,,0,16390,0,0,0,27204,0,0 -17-43124020-A-G,17,43124020,rs879255496,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile26Thr,p.Ile26Thr,c.77T>C,missense_variant,Uncertain significance,856169,,2,1458680,0.0000013711026407436862,0,0,nfe,2.999999999999999e-7,26.6,0.807,0.00,-0.0200,6.33,0.00,0.877,0,33388,0,0,0,44714,0,0,0,26108,0,0,0,39642,0,0,0,53414,0,0,0,5750,0,0,2,1109196,0,0,,,,,0,86188,0,0,0,60280,0,0 -17-43124022-G-A,17,43124022,rs80356839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro25Pro,p.Pro25Pro,c.75C>T,synonymous_variant,Likely benign,55691,,96,1610856,0.000059595643558455876,3,0,eas,0.0003317300000000003,9.53,,0.00,0.00,-0.307,,,0,74808,0,0,2,59992,0,0,0,29578,0,0,22,44844,1,0,0,64016,0,0,0,6070,0,0,2,1177242,0,0,0,912,0,0,0,91022,0,0,70,62372,2,0 -17-43124023-G-A,17,43124023,rs876660096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro25Leu,p.Pro25Leu,c.74C>T,missense_variant,Conflicting interpretations of pathogenicity,232955,,1,628452,0.0000015912114210790959,0,0,,,27.3,0.844,0.00,0.00,8.79,0.00,0.113,1,17682,0,0,0,43736,0,0,0,20972,0,0,0,36020,0,0,0,53132,0,0,0,4138,0,0,0,349916,0,0,,,,,0,69788,0,0,0,33068,0,0 -17-43124024-G-T,17,43124024,rs397509313,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro25Thr,p.Pro25Thr,c.73C>A,missense_variant,Uncertain significance,55684,,1,831116,0.0000012032014784939767,0,0,,,25.7,0.818,0.0100,0.00,8.79,0.00,0.932,0,15734,0,0,0,982,0,0,0,5140,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,0,760080,0,0,,,,,1,16422,0,0,0,27238,0,0 -17-43124027-ACT-A,17,43124027,rs80357914,ACT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu23ValfsTer17,p.Glu23ValfsTer17,c.68_69del,frameshift_variant,Pathogenic,17662,,191,1612084,0.00011848017845223947,0,0,nfe,0.00002478,28.5,,0.00,0.0100,6.33,,,0,74854,0,0,3,59996,0,0,123,29578,0,0,0,44844,0,0,0,64018,0,0,1,6078,0,0,39,1178366,0,0,0,912,0,0,5,91044,0,0,20,62394,0,0 -17-43124028-C-T,17,43124028,rs766004110,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu23Glu,p.Glu23Glu,c.69G>A,synonymous_variant,Likely benign,381467,,2,780384,0.000002562840857834092,0,0,,,10.6,,0.0100,-0.0100,1.32,,,0,59126,0,0,0,59016,0,0,0,24226,0,0,0,41218,0,0,0,63756,0,0,0,4456,0,0,0,417930,0,0,0,912,0,0,2,74608,0,0,0,35136,0,0 -17-43124029-T-G,17,43124029,rs1597923307,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23Ala,p.Glu23Ala,c.68A>C,missense_variant,Uncertain significance,826690,,1,831890,0.0000012020820060344516,0,0,,,27.5,0.793,0.0100,-0.0100,6.36,0.00,0.444,0,15766,0,0,0,982,0,0,0,5108,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,760846,0,0,,,,,0,16432,0,0,0,27234,0,0 -17-43124030-C-CT,17,43124030,rs80357783,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23ArgfsTer18,p.Glu23ArgfsTer18,c.66dup,frameshift_variant,Pathogenic,37691,,2,1460784,0.0000013691278108193956,0,0,nfe,2.999999999999999e-7,28.0,,0.00,0.0100,8.90,,,0,33460,0,0,0,44718,0,0,0,26114,0,0,0,39646,0,0,0,53412,0,0,0,5762,0,0,2,1111104,0,0,,,,,0,86234,0,0,0,60334,0,0 -17-43124030-C-G,17,43124030,rs372047427,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23Gln,p.Glu23Gln,c.67G>C,missense_variant,Conflicting interpretations of pathogenicity,441390,,1,1460784,6.845639054096978e-7,0,0,,,25.6,0.681,0.00,0.00,8.90,0.00,0.0910,0,33460,0,0,0,44718,0,0,0,26114,0,0,0,39646,0,0,0,53412,0,0,0,5762,0,0,1,1111104,0,0,,,,,0,86234,0,0,0,60334,0,0 -17-43124036-T-C,17,43124036,rs80357406,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile21Val,p.Ile21Val,c.61A>G,missense_variant,Conflicting interpretations of pathogenicity,55648,,2,152206,0.000013140086461768918,0,0,afr,0.000008,18.6,0.611,0.0200,-0.0100,2.37,,,2,41456,0,0,0,15282,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 -17-43124043-C-T,17,43124043,rs1597923450,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met18Ile,p.Met18Ile,c.54G>A,missense_variant,Uncertain significance,825781,,2,780712,0.0000025617641332527233,0,0,,,25.7,0.678,0.0300,-0.0300,8.90,0.00,0.164,1,59128,0,0,0,59014,0,0,0,24442,0,0,1,41224,0,0,0,63744,0,0,0,4458,0,0,0,418002,0,0,0,912,0,0,0,74624,0,0,0,35164,0,0 -17-43124044-A-G,17,43124044,rs80356929,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met18Thr,p.Met18Thr,c.53T>C,missense_variant,Pathogenic,37664,,7,832856,0.00000840481427761822,0,0,nfe,0.00000382,25.4,0.770,0.00,0.00,6.33,0.00,0.344,0,15786,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761674,0,0,,,,,0,16452,0,0,0,27286,0,0 -17-43124046-A-T,17,43124046,rs2055727513,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala17Ala,p.Ala17Ala,c.51T>A,synonymous_variant,not provided,869099,,2,1461434,0.0000013685188657168233,0,0,nfe,2.999999999999999e-7,13.8,,0.00,0.00,1.02,,,0,33474,0,0,0,44720,0,0,0,26120,0,0,0,39650,0,0,0,53416,0,0,0,5760,0,0,2,1111686,0,0,,,,,0,86248,0,0,0,60360,0,0 -17-43124046-A-C,17,43124046,rs2055727513,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala17Ala,p.Ala17Ala,c.51T>G,synonymous_variant,not provided,865040,,1,1461434,6.842594328584116e-7,0,0,,,13.8,,0.00,0.00,1.02,,,0,33474,0,0,0,44720,0,0,0,26120,0,0,0,39650,0,0,0,53416,0,0,0,5760,0,0,1,1111686,0,0,,,,,0,86248,0,0,0,60360,0,0 -17-43124053-A-G,17,43124053,rs80357316,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile15Thr,p.Ile15Thr,c.44T>C,missense_variant,Uncertain significance,55217,,1,832998,0.0000012004830743891341,0,0,,,23.7,0.594,0.00,0.00,6.33,0.00,0.0190,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761806,0,0,,,,,0,16454,0,0,0,27292,0,0 -17-43124054-T-G,17,43124054,rs80357031,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile15Leu,p.Ile15Leu,c.43A>C,missense_variant,Conflicting interpretations of pathogenicity,55192,,5,1613814,0.0000030982504799189995,0,0,afr,0.00000443,15.4,0.446,0.0100,0.00,4.13,1.00,0.00,2,74944,0,0,0,60012,0,0,0,29590,0,0,0,44854,0,0,0,64032,0,0,0,6080,0,0,3,1179844,0,0,0,912,0,0,0,91084,0,0,0,62462,0,0 -17-43124054-T-C,17,43124054,rs80357031,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile15Val,p.Ile15Val,c.43A>G,missense_variant,Conflicting interpretations of pathogenicity,865035,,8,1461558,0.000005473611036989295,0,0,nfe,0.0000031,21.7,0.436,0.0200,0.00,4.13,0.00,0.00100,0,33474,0,0,0,44722,0,0,0,26118,0,0,0,39650,0,0,0,53414,0,0,0,5764,0,0,8,1111798,0,0,,,,,0,86250,0,0,0,60368,0,0 -17-43124055-G-A,17,43124055,rs80356827,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Val,p.Val14Val,c.42C>T,synonymous_variant,Likely benign,156194,,24,1461536,0.00001642108028813522,0,0,nfe,0.00001377,11.8,,0.0400,-0.0600,1.66,,,0,33472,0,0,0,44722,0,0,0,26120,0,0,0,39650,0,0,0,53414,0,0,0,5758,0,0,23,1111790,0,0,,,,,0,86242,0,0,1,60368,0,0 -17-43124056-A-T,17,43124056,rs2055732014,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Asp,p.Val14Asp,c.41T>A,missense_variant,not provided,865031,,1,628564,0.0000015909278927841874,0,0,,,27.4,0.694,0.00,0.00,4.72,0.00,0.840,0,17688,0,0,0,43738,0,0,0,20972,0,0,0,36018,0,0,1,53140,0,0,0,4144,0,0,0,349992,0,0,,,,,0,69794,0,0,0,33078,0,0 -17-43124057-C-G,17,43124057,rs2055732548,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Leu,p.Val14Leu,c.40G>C,missense_variant,not provided,869093,,1,832996,0.0000012004859567152783,0,0,,,23.9,0.600,0.00,-0.0100,3.00,0.00,0.675,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761798,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43124057-C-A,17,43124057,rs2055732548,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Phe,p.Val14Phe,c.40G>T,missense_variant,Uncertain significance,848933,,1,832996,0.0000012004859567152783,0,0,,,24.5,0.607,0.0100,-0.0400,3.00,0.00,0.942,0,15786,0,0,0,984,0,0,1,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761798,0,0,,,,,0,16458,0,0,0,27294,0,0 -17-43124058-A-T,17,43124058,rs2055733269,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn13Lys,p.Asn13Lys,c.39T>A,missense_variant,not provided,869089,,2,985232,0.0000020299787258229533,0,0,,,24.8,0.551,0.00,0.00,1.97,0.00,0.275,0,57244,0,0,0,16270,0,0,0,8620,0,0,0,8834,0,0,0,10890,0,0,0,1936,0,0,1,829854,0,0,0,912,0,0,1,21290,0,0,0,29382,0,0 -17-43124061-T-C,17,43124061,rs763230080,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Gln,p.Gln12Gln,c.36A>G,synonymous_variant,Likely benign,230602,,27,1461582,0.00001847313390558997,1,0,sas,0.00021111,9.89,,0.0200,0.00,0.492,,,0,33474,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5764,0,0,0,1111814,0,0,,,,,26,86250,1,0,1,60370,0,0 -17-43124062-T-C,17,43124062,rs1555601006,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Arg,p.Gln12Arg,c.35A>G,missense_variant,Conflicting interpretations of pathogenicity,441517,,1,628568,0.0000015909177686423745,0,0,,,25.8,0.577,0.0200,0.0100,3.74,0.0100,0.527,0,17688,0,0,0,43740,0,0,0,20972,0,0,0,36016,0,0,0,53138,0,0,0,4144,0,0,0,349998,0,0,,,,,0,69794,0,0,1,33078,0,0 -17-43124062-T-G,17,43124062,rs1555601006,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln12Pro,p.Gln12Pro,c.35A>C,missense_variant,Uncertain significance,867703,,1,152256,0.000006567885666246322,0,0,,,26.2,0.674,0.0100,0.00,3.74,,,0,41472,0,0,0,15294,0,0,0,3472,0,0,0,5208,0,0,0,10630,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 -17-43124063-G-A,17,43124063,rs80357134,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln12Ter,p.Gln12Ter,c.34C>T,stop_gained,Pathogenic,54902,,3,1613790,0.0000018589779339319243,0,0,,,37.0,,0.120,-0.400,7.02,,,0,75010,0,0,0,60004,0,0,0,29594,0,0,1,44838,0,0,0,64014,0,0,0,6054,0,0,1,1179800,0,0,0,912,0,0,1,91080,0,0,0,62484,0,0 -17-43124063-G-T,17,43124063,rs80357134,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Lys,p.Gln12Lys,c.34C>A,missense_variant,Uncertain significance,867702,,1,1461546,6.842069972481195e-7,0,0,,,24.0,0.564,0.0200,-0.0400,7.02,0.110,0.275,0,33472,0,0,0,44720,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5762,0,0,1,1111786,0,0,,,,,0,86252,0,0,0,60368,0,0 -17-43124066-C-G,17,43124066,rs1555601019,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val11Leu,p.Val11Leu,c.31G>C,missense_variant,Uncertain significance,438922,,2,1461544,0.0000013684158670556617,0,0,nfe,2.999999999999999e-7,24.8,0.677,0.0200,0.00,3.56,0.00,0.621,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53414,0,0,0,5756,0,0,2,1111788,0,0,,,,,0,86250,0,0,0,60370,0,0 -17-43124067-T-A,17,43124067,rs2055737161,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu10Asp,p.Glu10Asp,c.30A>T,missense_variant,not provided,865019,,1,1461534,6.842126149648246e-7,0,0,,,23.1,0.602,0.00,-0.0100,2.37,0.270,0.643,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5760,0,0,1,1111768,0,0,,,,,0,86252,0,0,0,60372,0,0 -17-43124067-T-C,17,43124067,rs2055737161,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu10Glu,p.Glu10Glu,c.30A>G,synonymous_variant,not provided,865018,,2,1461534,0.0000013684252299296492,0,0,sas,0.00000385,14.8,,0.140,-0.130,2.37,,,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5760,0,0,0,1111768,0,0,,,,,2,86252,0,0,0,60372,0,0 -17-43124068-TCTTCAACGC-T,17,43124068,rs80359887,TCTTCAACGC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7_Glu10delinsGln,p.Arg7_Glu10delinsGln,c.20_28del,inframe_deletion,Uncertain significance,125492,,1,628558,0.000001590943079238511,0,0,,,18.1,,0.420,-0.450,6.29,,,0,17688,0,0,0,43740,0,0,0,20972,0,0,0,36016,0,0,0,53140,0,0,0,4140,0,0,1,349994,0,0,,,,,0,69792,0,0,0,33076,0,0 -17-43124075-C-T,17,43124075,rs528902306,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val8Ile,p.Val8Ile,c.22G>A,missense_variant,Conflicting interpretations of pathogenicity,243118,,4,985062,0.000004060658110860027,0,0,afr,0.00001388,0.228,0.499,0.00,-0.0300,0.365,0.920,0.00500,3,57342,0,0,0,16276,0,0,0,8622,0,0,0,8818,0,0,0,10874,0,0,0,1912,0,0,1,829624,0,0,0,912,0,0,0,21280,0,0,0,29402,0,0 -17-43124076-G-A,17,43124076,rs149402012,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7Arg,p.Arg7Arg,c.21C>T,synonymous_variant,Benign,136537,,494,1613436,0.0003061788629979745,2,0,afr,0.0054515300000000004,0.233,,0.0200,-0.0400,-2.85,,,443,75006,2,0,17,60018,0,0,0,29592,0,0,0,44836,0,0,0,64002,0,0,0,6048,0,0,7,1179462,0,0,0,912,0,0,0,91080,0,0,27,62480,0,0 -17-43124077-C-T,17,43124077,rs144792613,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7His,p.Arg7His,c.20G>A,missense_variant,Conflicting interpretations of pathogenicity,184875,,9,1613318,0.000005578565416117591,0,0,amr,0.00006616999999999998,0.00900,0.532,0.0400,-0.0800,-2.32,0.480,0.00,0,74844,0,0,8,59982,0,0,0,29594,0,0,0,44844,0,0,0,64006,0,0,0,6070,0,0,0,1179546,0,0,0,912,0,0,0,91076,0,0,1,62444,0,0 -17-43124077-C-A,17,43124077,rs144792613,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7Leu,p.Arg7Leu,c.20G>T,missense_variant,Likely benign,820717,,1,1461262,6.843399746246738e-7,0,0,,,0.853,0.594,0.0700,-0.120,-2.32,0.0500,0.00300,0,33468,0,0,0,44724,0,0,0,26122,0,0,0,39642,0,0,0,53412,0,0,0,5754,0,0,1,1111538,0,0,,,,,0,86246,0,0,0,60356,0,0 -17-43124078-G-T,17,43124078,rs80356994,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7Ser,p.Arg7Ser,c.19C>A,missense_variant,Uncertain significance,531388,,2,1461166,0.0000013687698728275911,0,0,sas,0.00000385,19.1,0.503,0.150,-0.290,4.85,0.160,0.0660,0,33464,0,0,0,44724,0,0,0,26122,0,0,0,39646,0,0,0,53412,0,0,0,5758,0,0,0,1111432,0,0,,,,,2,86246,0,0,0,60362,0,0 -17-43124078-G-A,17,43124078,rs80356994,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7Cys,p.Arg7Cys,c.19C>T,missense_variant,Conflicting interpretations of pathogenicity,37440,,35,1613308,0.000021694555534343102,0,0,nfe,0.00001884,24.4,0.558,0.150,-0.220,4.85,0.0100,0.446,0,74890,0,0,0,59992,0,0,0,29594,0,0,1,44850,0,0,0,64016,0,0,1,6074,0,0,31,1179452,0,0,0,912,0,0,1,91076,0,0,1,62452,0,0 -17-43124081-G-A,17,43124081,rs1315262605,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu6Phe,p.Leu6Phe,c.16C>T,missense_variant,Conflicting interpretations of pathogenicity,658584,,3,1613408,0.0000018594180765187726,0,0,nfe,6.800000000000001e-7,17.7,0.446,0.0700,-0.0900,2.11,0.0100,0.0130,0,74906,0,0,0,60006,0,0,0,29592,0,0,0,44844,0,0,0,64022,0,0,0,6072,0,0,3,1179524,0,0,0,912,0,0,0,91074,0,0,0,62456,0,0 -17-43124082-A-G,17,43124082,rs1339036647,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala5Ala,p.Ala5Ala,c.15T>C,synonymous_variant,Likely benign,701597,,1,152250,0.000006568144499178982,0,0,,,2.60,,0.0200,-0.0100,-1.10,,,0,41466,0,0,0,15290,0,0,0,3472,0,0,1,5204,0,0,0,10622,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 -17-43124083-G-A,17,43124083,rs1335137805,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala5Val,p.Ala5Val,c.14C>T,missense_variant,Conflicting interpretations of pathogenicity,576432,,2,1460940,0.0000013689816145769162,0,0,,,4.32,0.535,0.0400,-0.0500,-0.590,0.520,0.00500,0,33452,0,0,0,44724,0,0,0,26122,0,0,0,39642,0,0,0,53408,0,0,0,5750,0,0,1,1111254,0,0,,,,,1,86236,0,0,0,60352,0,0 -17-43124086-G-A,17,43124086,rs786203152,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser4Phe,p.Ser4Phe,c.11C>T,missense_variant,Uncertain significance,186697,,2,628518,0.000003182088659354227,0,0,nfe,9.5e-7,24.2,0.630,0.0600,-0.0300,5.85,0.00,0.990,0,17682,0,0,0,43738,0,0,0,20974,0,0,0,36016,0,0,0,53126,0,0,0,4122,0,0,2,349992,0,0,,,,,0,69792,0,0,0,33076,0,0 -17-43124087-A-G,17,43124087,rs876658707,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser4Pro,p.Ser4Pro,c.10T>C,missense_variant,Conflicting interpretations of pathogenicity,230684,,1,1460846,6.845348517229057e-7,0,0,,,12.8,0.526,0.0200,0.0100,0.478,0.100,0.274,0,33456,0,0,0,44724,0,0,0,26126,0,0,0,39638,0,0,0,53404,0,0,0,5748,0,0,1,1111156,0,0,,,,,0,86244,0,0,0,60350,0,0 -17-43124088-T-C,17,43124088,rs780157871,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu3Leu,p.Leu3Leu,c.9A>G,synonymous_variant,Likely benign,757889,,3,780766,0.000003842380431524938,0,0,,,7.73,,0.0200,0.00,0.0990,,,0,59154,0,0,0,59028,0,0,0,24446,0,0,1,41214,0,0,0,63760,0,0,0,4436,0,0,2,418012,0,0,0,912,0,0,0,74630,0,0,0,35174,0,0 -17-43124089-A-G,17,43124089,rs397509332,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu3Ser,p.Leu3Ser,c.8T>C,missense_variant,Uncertain significance,869066,,1,628520,0.0000015910392668491059,0,0,,,23.6,0.548,0.00,0.0100,2.89,0.100,0.521,0,17684,0,0,0,43740,0,0,0,20974,0,0,0,36010,0,0,1,53132,0,0,0,4122,0,0,0,349988,0,0,,,,,0,69792,0,0,0,33078,0,0 -17-43124091-A-G,17,43124091,rs754763517,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp2Asp,p.Asp2Asp,c.6T>C,synonymous_variant,Likely benign,415555,,3,780744,0.000003842488703083213,0,0,afr,0.00001346,11.4,,0.00,0.00,1.78,,,3,59148,0,0,0,59022,0,0,0,24444,0,0,0,41218,0,0,0,63750,0,0,0,4430,0,0,0,418030,0,0,0,912,0,0,0,74624,0,0,0,35166,0,0 -17-43124093-C-T,17,43124093,rs778775133,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp2Asn,p.Asp2Asn,c.4G>A,missense_variant,not provided,868680,,3,628468,0.000004773512732549629,0,0,nfe,9.5e-7,26.4,0.534,0.0700,-0.0900,5.00,0.00,0.994,0,17684,0,0,0,43738,0,0,0,20974,0,0,0,36014,0,0,0,53122,0,0,0,4114,0,0,2,349968,0,0,,,,,1,69786,0,0,0,33068,0,0 -17-43124094-C-A,17,43124094,rs80357475,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1?,p.Met1?,c.3G>T,start_lost,Pathogenic,55072,,1,831408,0.000001202778900371418,0,0,,,25.4,0.696,0.0800,-0.0800,8.72,0.00,0.878,0,15766,0,0,0,984,0,0,0,5148,0,0,0,3622,0,0,0,276,0,0,0,1620,0,0,1,760334,0,0,,,,,0,16416,0,0,0,27242,0,0 -17-43124096-T-C,17,43124096,rs80357287,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1?,p.Met1?,c.1A>G,start_lost,Pathogenic,54432,,3,830648,0.0000036116381427512013,0,0,nfe,4.4e-7,24.2,0.696,0.0500,0.0200,6.23,0.00,0.878,0,15736,0,0,0,984,0,0,0,5144,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,759638,0,0,,,,,0,16404,0,0,1,27222,0,0 -17-43124097-T-G,17,43124097,rs587781565,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-1A>C,,c.-1A>C,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,141194,,2,1458834,0.0000013709579019957035,0,0,nfe,2.999999999999999e-7,16.5,,0.00,0.00,2.88,,,0,33410,0,0,0,44720,0,0,0,26116,0,0,0,39636,0,0,0,53398,0,0,0,5718,0,0,2,1109368,0,0,,,,,0,86180,0,0,0,60288,0,0 -17-43124097-T-C,17,43124097,rs587781565,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-1A>G,,c.-1A>G,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,487486,,7,1458834,0.000004798352656984962,0,0,nfe,0.00000195,16.9,,0.0200,-0.0100,2.88,,,0,33410,0,0,0,44720,0,0,0,26116,0,0,0,39636,0,0,0,53398,0,0,0,5718,0,0,6,1109368,0,0,,,,,1,86180,0,0,0,60288,0,0 -17-43124099-C-A,17,43124099,rs273900720,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-3G>T,,c.-3G>T,5_prime_UTR_variant,Uncertain significance,441382,,1,829876,0.0000012049993011004054,0,0,,,16.7,,0.150,-0.420,1.22,,,0,15708,0,0,0,982,0,0,0,5130,0,0,0,3626,0,0,0,276,0,0,0,1612,0,0,1,758932,0,0,,,,,0,16402,0,0,0,27208,0,0 -17-43124103-C-T,17,43124103,rs1567823538,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-7G>A,,c.-7G>A,5_prime_UTR_variant,Likely benign,868665,,1,828362,0.0000012072016823562646,0,0,,,14.3,,0.00,-0.0500,3.44,,,0,15670,0,0,0,980,0,0,0,5128,0,0,0,3626,0,0,0,276,0,0,0,1608,0,0,1,757542,0,0,,,,,0,16368,0,0,0,27164,0,0 -17-43124104-T-A,17,43124104,rs2055749162,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-8A>T,,c.-8A>T,5_prime_UTR_variant,not provided,868664,,1,628360,0.000001591444394932841,0,0,,,15.4,,0.00,-0.0100,0.990,,,0,17678,0,0,0,43732,0,0,0,20974,0,0,0,36010,0,0,1,53108,0,0,0,4094,0,0,0,349930,0,0,,,,,0,69768,0,0,0,33066,0,0 -17-43124105-G-C,17,43124105,rs1555601059,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-9C>G,,c.-9C>G,5_prime_UTR_variant,Likely benign,433682,,2,1454460,0.0000013750807859961773,0,0,sas,0.00000386,14.0,,0.0300,0.0100,2.84,,,0,33294,0,0,0,44708,0,0,0,26092,0,0,0,39616,0,0,0,53376,0,0,0,5696,0,0,0,1105434,0,0,,,,,2,86088,0,0,0,60156,0,0 -17-43124105-G-A,17,43124105,rs1555601059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-9C>T,,c.-9C>T,5_prime_UTR_variant,not provided,867661,,1,1454460,6.875403929980886e-7,0,0,,,16.5,,0.160,-0.360,2.84,,,0,33294,0,0,0,44708,0,0,0,26092,0,0,0,39616,0,0,0,53376,0,0,0,5696,0,0,1,1105434,0,0,,,,,0,86088,0,0,0,60156,0,0 -17-43124106-T-G,17,43124106,rs748057929,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-10A>C,,c.-10A>C,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,507346,,15,1454208,0.000010314893055188804,0,0,sas,0.00009811,14.4,,0.00,0.00,0.531,,,0,33302,0,0,0,44710,0,0,0,26086,0,0,0,39612,0,0,0,53390,0,0,0,5684,0,0,0,1105212,0,0,,,,,14,86074,0,0,1,60138,0,0 -17-43124108-C-G,17,43124108,rs772037778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-12G>C,,c.-12G>C,5_prime_UTR_variant,not provided,864961,,1,628236,0.000001591758511132759,0,0,,,14.4,,0.120,0.0800,2.76,,,0,17674,0,0,0,43728,0,0,0,20970,0,0,0,35998,0,0,0,53108,0,0,0,4072,0,0,1,349866,0,0,,,,,0,69758,0,0,0,33062,0,0 -17-43124109-C-T,17,43124109,rs431825383,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-13G>A,,c.-13G>A,5_prime_UTR_variant,Likely benign,96892,,1,1445936,6.915935421761406e-7,0,0,,,9.43,,0.140,0.130,0.981,,,0,33102,0,0,0,44692,0,0,0,26024,0,0,0,39560,0,0,0,53366,0,0,0,5654,0,0,1,1097754,0,0,,,,,0,85892,0,0,0,59892,0,0 -17-43124111-A-G,17,43124111,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-15T>C,,c.-15T>C,5_prime_UTR_variant,Uncertain significance,2099706,,1,1442910,6.930439181930959e-7,0,0,,,3.04,,0.00,0.00,-0.0960,,,0,33020,0,0,0,44696,0,0,0,25990,0,0,0,39534,0,0,0,53384,0,0,0,5638,0,0,1,1094976,0,0,,,,,0,85838,0,0,0,59834,0,0 -17-43124112-T-A,17,43124112,rs777262055,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-16A>T,,c.-16A>T,5_prime_UTR_variant,not provided,869032,,1,1443160,6.929238615260955e-7,0,0,,,12.7,,0.240,0.180,0.924,,,0,33024,0,0,0,44700,0,0,0,26002,0,0,0,39526,0,0,0,53380,0,0,0,5636,0,0,0,1095214,0,0,,,,,1,85848,0,0,0,59830,0,0 -17-43124112-T-C,17,43124112,rs777262055,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-16A>G,,c.-16A>G,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,380340,,33,1595374,0.000020684804942289395,0,0,afr,0.00005305999999999998,11.4,,0.00,-0.0100,0.924,,,8,74478,0,0,2,59980,0,0,0,29470,0,0,0,44732,0,0,0,63988,0,0,0,5952,0,0,23,1163256,0,0,0,912,0,0,0,90686,0,0,0,61920,0,0 -17-43124113-G-A,17,43124113,rs1597923857,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-17C>T,,c.-17C>T,splice_region_variant,Likely benign,766447,,1,1428028,7.002663813314585e-7,0,0,,,3.34,,0.140,0.100,0.119,,,0,32664,0,0,0,44684,0,0,0,25916,0,0,0,39460,0,0,0,53356,0,0,0,5602,0,0,1,1081516,0,0,,,,,0,85512,0,0,0,59318,0,0 -17-43124116-C-T,17,43124116,rs569074958,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-1G>A,,c.-19-1G>A,splice_acceptor_variant,Uncertain significance,371947,lc_lof,1,152286,0.000006566591807520061,0,0,,,23.0,,0.910,-0.850,1.52,,,1,41554,0,0,0,15288,0,0,0,3470,0,0,0,5194,0,0,0,10598,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4834,0,0,0,2116,0,0 -17-43124118-T-C,17,43124118,rs273898669,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-3A>G,,c.-19-3A>G,splice_region_variant,Benign,125471,,46,1537558,0.000029917570589207042,1,0,eas,0.0005431600000000001,22.9,,0.960,0.860,1.20,,,0,73392,0,0,0,59884,0,0,0,29120,0,0,33,44416,0,0,0,63904,0,0,0,5722,0,0,0,1110888,0,0,0,912,0,0,12,89366,1,0,1,59954,0,0 -17-43124121-A-G,17,43124121,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-6T>C,,c.-19-6T>C,splice_region_variant,,,,1,735402,0.0000013598004900720967,0,0,,,8.05,,0.0400,-0.130,5.90,,,0,13666,0,0,0,854,0,0,0,4574,0,0,0,3164,0,0,0,248,0,0,0,1432,0,0,1,672942,0,0,,,,,0,14398,0,0,0,24124,0,0 -17-43124122-C-T,17,43124122,rs1415813169,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-7G>A,,c.-19-7G>A,splice_region_variant,Conflicting interpretations of pathogenicity,510565,,4,777760,0.000005142974696564493,0,0,eas,0.00003269,0.133,,0.00,0.00,-0.584,,,0,58938,0,0,0,58920,0,0,0,24402,0,0,4,41078,0,0,0,63552,0,0,0,4190,0,0,0,416456,0,0,0,912,0,0,0,74332,0,0,0,34980,0,0 -17-43124122-C-G,17,43124122,rs1415813169,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-7G>C,,c.-19-7G>C,splice_region_variant,,,,2,625622,0.000003196818526202723,0,0,sas,0.00000478,0.106,,0.00,0.00,-0.584,,,0,17522,0,0,0,43644,0,0,0,20932,0,0,0,35876,0,0,0,52958,0,0,0,3874,0,0,0,348428,0,0,,,,,2,69500,0,0,0,32888,0,0 -17-43124124-C-G,17,43124124,rs776177740,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-9G>C,,c.-19-9G>C,intron_variant,Likely benign,385189,,7,1338836,0.0000052284223011631,0,0,sas,0.000038829999999999986,2.44,,0.00,0.00,-0.0470,,,0,30644,0,0,0,44358,0,0,0,25368,0,0,0,38820,0,0,0,53106,0,0,0,5186,0,0,0,1001788,0,0,,,,,7,83334,0,0,0,56232,0,0 -17-43124124-C-T,17,43124124,rs776177740,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-9G>A,,c.-19-9G>A,intron_variant,Likely benign,2059424,,2,1338836,0.0000014938349431894571,0,0,sas,0.00000398,2.94,,0.0300,-0.0600,-0.0470,,,0,30644,0,0,0,44358,0,0,0,25368,0,0,0,38820,0,0,0,53106,0,0,0,5186,0,0,0,1001788,0,0,,,,,2,83334,0,0,0,56232,0,0 -17-43124125-A-G,17,43124125,rs201866997,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-10T>C,,c.-19-10T>C,intron_variant,Benign/Likely benign,125467,,36,1478326,0.00002435186826180423,0,0,afr,0.00012784,7.78,,0.0600,0.130,2.80,,,15,71906,0,0,1,59630,0,0,0,28746,0,0,6,43900,0,0,0,63676,0,0,0,5418,0,0,1,1058404,0,0,0,912,0,0,0,87826,0,0,13,57908,0,0 -17-43124134-A-G,17,43124134,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-19T>C,,c.-19-19T>C,intron_variant,,,,1,608948,0.0000016421763434644667,0,0,,,2.20,,0.0600,-0.0800,1.29,,,0,16180,0,0,0,42414,0,0,0,20790,0,0,0,33932,0,0,0,51776,0,0,0,3352,0,0,0,340862,0,0,,,,,1,67574,0,0,0,32068,0,0 -17-43124135-CATATAT-C,17,43124135,,CATATAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-26_-19-21del,,c.-19-26_-19-21del,intron_variant,,,,1,1139348,8.776949623819939e-7,0,0,,,2.02,,0.0500,-0.0200,-0.152,,,0,26010,0,0,0,42898,0,0,0,24098,0,0,0,36108,0,0,0,51898,0,0,0,4392,0,0,1,826964,0,0,,,,,0,77748,0,0,0,49232,0,0 -17-43124135-C-T,17,43124135,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-20G>A,,c.-19-20G>A,intron_variant,,,,1,1139344,8.776980437866e-7,0,0,,,1.74,,0.0500,-0.0600,-0.152,,,0,26010,0,0,0,42898,0,0,0,24098,0,0,0,36108,0,0,1,51898,0,0,0,4392,0,0,0,826960,0,0,,,,,0,77748,0,0,0,49232,0,0 -17-43124135-CAT-C,17,43124135,rs273898667,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22_-19-21del,,c.-19-22_-19-21del,intron_variant,Uncertain significance,1692957,,113,1290656,0.0000875523764659212,0,0,nfe,0.0000876,1.07,,0.0400,-0.0100,-0.152,,,7,67430,0,0,2,58128,0,0,2,27552,0,0,2,41268,0,0,2,62398,0,0,0,4684,0,0,94,894414,0,0,0,912,0,0,3,82552,0,0,1,51318,0,0 -17-43124135-C-CAT,17,43124135,rs273898667,C,CAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22_-19-21dup,,c.-19-22_-19-21dup,intron_variant,Benign/Likely benign,225725,,391,1291020,0.0003028613034654769,1,0,afr,0.00112546,1.51,,0.0500,0.0100,-0.152,,,91,67434,0,0,49,58136,1,0,59,27564,0,0,11,41286,0,0,3,62426,0,0,0,4686,0,0,143,894688,0,0,0,912,0,0,14,82560,0,0,21,51328,0,0 -17-43124137-T-C,17,43124137,rs774892235,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22A>G,,c.-19-22A>G,intron_variant,Uncertain significance,1175030,,25,1256704,0.000019893308209411285,0,0,nfe,0.00001767,1.68,,0.00,0.00,-1.94,,,0,66768,0,0,1,57198,0,0,0,27206,0,0,0,40536,0,0,0,61582,0,0,0,4536,0,0,23,866504,0,0,0,912,0,0,0,81420,0,0,1,50042,0,0 -17-43124139-T-C,17,43124139,rs370965853,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-24A>G,,c.-19-24A>G,intron_variant,,,,15,741292,0.000020234941156791115,0,0,afr,0.00012134999999999997,4.99,,0.0200,0.0100,-1.16,,,12,56740,0,0,0,54338,0,0,0,23664,0,0,0,38142,0,0,0,61386,0,0,0,3420,0,0,2,401992,0,0,0,912,0,0,0,67368,0,0,1,33330,0,0 -17-43124141-T-A,17,43124141,rs768200575,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-26A>T,,c.-19-26A>T,intron_variant,,,,10,1257190,0.00000795424717027657,0,0,sas,0.000060989999999999984,5.58,,0.00,0.00,-0.0110,,,0,66154,0,0,0,54220,0,0,0,26842,0,0,0,39966,0,0,0,61164,0,0,0,4354,0,0,0,876804,0,0,0,912,0,0,9,76772,0,0,1,50002,0,0 -17-43124141-T-C,17,43124141,rs768200575,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-26A>G,,c.-19-26A>G,intron_variant,,,,1,1104992,9.049839274854479e-7,0,0,,,6.20,,0.0400,0.0200,-0.0110,,,0,24696,0,0,0,38934,0,0,0,23374,0,0,0,34762,0,0,0,50574,0,0,0,4038,0,0,1,808764,0,0,,,,,0,71938,0,0,0,47912,0,0 -17-43124142-A-C,17,43124142,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-27T>G,,c.-19-27T>G,intron_variant,,,,1,1107538,9.029035572594349e-7,0,0,,,1.23,,0.130,-0.120,-0.442,,,0,24736,0,0,0,38958,0,0,0,23400,0,0,1,34776,0,0,0,50564,0,0,0,4044,0,0,0,811058,0,0,,,,,0,72000,0,0,0,48002,0,0 -17-43124143-T-C,17,43124143,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-28A>G,,c.-19-28A>G,intron_variant,,,,4,499418,0.000008009322851799495,0,0,nfe,0.00000205,2.76,,0.0300,0.0100,-1.81,,,0,9178,0,0,0,560,0,0,0,3098,0,0,0,2076,0,0,0,164,0,0,0,964,0,0,4,457620,0,0,,,,,0,9592,0,0,0,16166,0,0 -17-43124144-A-G,17,43124144,rs1427914053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-29T>C,,c.-19-29T>C,intron_variant,,,,1,1088316,9.188507749587436e-7,0,0,,,1.74,,0.0100,-0.0200,0.271,,,0,24362,0,0,0,38170,0,0,0,23224,0,0,0,34302,0,0,0,50070,0,0,0,3924,0,0,1,795724,0,0,,,,,0,71264,0,0,0,47276,0,0 -17-43124145-T-C,17,43124145,rs1356423407,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-30A>G,,c.-19-30A>G,intron_variant,,,,2,1216396,0.0000016442013949404635,0,0,,,6.97,,0.0300,0.0100,-0.718,,,2,65356,0,0,0,53592,0,0,0,26560,0,0,0,39404,0,0,0,60670,0,0,0,4184,0,0,0,841362,0,0,0,912,0,0,0,75720,0,0,0,48636,0,0 -17-43124146-A-C,17,43124146,rs750463455,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-31T>G,,c.-19-31T>G,intron_variant,Likely benign,1697611,,40,1221772,0.00003273933270692077,0,0,sas,0.00011185999999999999,2.48,,0.0400,-0.0300,0.271,,,0,65566,0,0,1,52292,0,0,0,26432,0,0,0,39284,0,0,0,60316,0,0,0,4130,0,0,23,848996,0,0,0,912,0,0,14,75080,0,0,2,48764,0,0 -17-43124148-C-A,17,43124148,rs1339911071,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-33G>T,,c.-19-33G>T,intron_variant,,,,1,151996,0.000006579120503171136,0,0,,,0.0520,,0.0200,0.00,-0.553,,,0,41366,0,0,0,15266,0,0,0,3466,0,0,1,5194,0,0,0,10540,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 -17-43124153-TA-T,17,43124153,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-39del,,c.-19-39del,intron_variant,,,,2,1030474,0.000001940854402925256,0,0,nfe,4.4e-7,3.72,,0.0300,0.0100,-3.66,,,0,23120,0,0,0,34352,0,0,0,22414,0,0,0,33676,0,0,0,48728,0,0,0,3628,0,0,2,751528,0,0,,,,,0,67824,0,0,0,45204,0,0 -17-43124154-A-T,17,43124154,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-39T>A,,c.-19-39T>A,intron_variant,,,,1,1031462,9.694976644801262e-7,0,0,,,7.13,,0.0100,-0.0200,1.04,,,0,23228,0,0,0,35012,0,0,0,22558,0,0,0,33690,0,0,0,48784,0,0,0,3636,0,0,1,751142,0,0,,,,,0,68132,0,0,0,45280,0,0 -17-43124155-A-C,17,43124155,rs760677679,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-40T>G,,c.-19-40T>G,intron_variant,,,,6,1165742,0.00000514693645763814,0,0,,,7.06,,0.00,-0.0100,1.07,,,0,64198,0,0,0,48514,0,0,0,25754,0,0,0,38754,0,0,6,58850,0,0,0,3858,0,0,0,806518,0,0,0,912,0,0,0,71736,0,0,0,46648,0,0 -17-43124156-A-G,17,43124156,rs766586132,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-41T>C,,c.-19-41T>C,intron_variant,,,,3,555190,0.000005403555539545021,0,0,sas,0.00000571,6.51,,0.00,-0.0100,0.287,,,0,14398,0,0,0,32758,0,0,0,19450,0,0,0,31644,0,0,0,48104,0,0,0,2616,0,0,1,318262,0,0,,,,,2,58124,0,0,0,29834,0,0 -17-43124158-G-GACATATATATAT,17,43124158,rs199805151,G,GACATATATATAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-44_-19-43insATATATATATGT,,c.-19-44_-19-43insATATATATATGT,intron_variant,,,,4,1168454,0.000003423326891773232,0,0,nfe,0.0000011499999999999998,1.48,,0.0300,0.0100,-3.10,,,0,64106,0,0,0,48154,0,0,0,25608,0,0,0,38624,0,0,0,58680,0,0,0,3842,0,0,4,810816,0,0,0,912,0,0,0,70996,0,0,0,46716,0,0 -17-43124158-G-T,17,43124158,rs2154578394,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-43C>A,,c.-19-43C>A,intron_variant,,,,3,1016526,0.0000029512280059732854,0,0,nfe,0.00000108,0.392,,0.00,0.00,-3.10,,,0,22760,0,0,0,32890,0,0,0,22142,0,0,0,33430,0,0,0,48116,0,0,0,3526,0,0,3,742838,0,0,,,,,0,66190,0,0,0,44634,0,0 -17-43124159-GTTTATAAAATGACAACTTCATTTTATCAT-G,17,43124159,,GTTTATAAAATGACAACTTCATTTTATCAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-73_-19-45del,,c.-19-73_-19-45del,intron_variant,,,,1,1008728,9.913475188554297e-7,0,0,,,7.39,,0.0300,-0.0300,-1.42,,,0,22602,0,0,0,32058,0,0,0,21986,0,0,0,33432,0,0,0,47880,0,0,0,3492,0,0,1,736980,0,0,,,,,0,65900,0,0,0,44398,0,0 -17-43124159-G-C,17,43124159,rs1271673915,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-44C>G,,c.-19-44C>G,intron_variant,,,,2,151974,0.000013160145814415624,0,0,nfe,0.0000018200000000000002,2.22,,0.00,0.0100,-1.42,,,0,41370,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10550,0,0,0,316,0,0,2,67982,0,0,0,912,0,0,0,4812,0,0,0,2088,0,0 -17-43124159-G-T,17,43124159,rs1271673915,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-44C>A,,c.-19-44C>A,intron_variant,,,,1,1008724,9.913514499506307e-7,0,0,,,2.11,,0.00,0.00,-1.42,,,0,22602,0,0,0,32058,0,0,0,21986,0,0,0,33432,0,0,0,47880,0,0,0,3492,0,0,0,736976,0,0,,,,,1,65900,0,0,0,44398,0,0 -17-43124160-T-C,17,43124160,rs1436068795,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-45A>G,,c.-19-45A>G,intron_variant,,,,2,548580,0.000003645776368077582,0,0,,,7.24,,0.00,-0.0200,-0.671,,,0,14220,0,0,0,31332,0,0,0,19198,0,0,1,31544,0,0,0,47680,0,0,0,2560,0,0,0,315448,0,0,,,,,1,57036,0,0,0,29562,0,0 -17-43124164-T-C,17,43124164,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-49A>G,,c.-19-49A>G,intron_variant,,,,1,941116,0.0000010625682700113482,0,0,,,8.48,,0.00,0.00,-0.0440,,,0,21324,0,0,0,31286,0,0,0,21558,0,0,0,33166,0,0,0,47498,0,0,0,3318,0,0,0,676334,0,0,,,,,1,64362,0,0,0,42270,0,0 -17-43124164-TA-T,17,43124164,rs1212080615,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-50del,,c.-19-50del,intron_variant,,,,4,1093346,0.000003658494200372069,0,0,sas,0.00001949,8.05,,0.0300,0.0100,-0.0440,,,0,62792,0,0,0,46576,0,0,0,25028,0,0,0,38374,0,0,0,58102,0,0,0,3634,0,0,0,744372,0,0,0,910,0,0,4,69198,0,0,0,44360,0,0 -17-43124166-A-G,17,43124166,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-51T>C,,c.-19-51T>C,intron_variant,,,,3,890868,0.0000033675022562265115,0,0,,,10.6,,0.00,-0.0100,1.33,,,0,20392,0,0,1,30710,0,0,0,21176,0,0,0,32944,0,0,0,47282,0,0,0,3132,0,0,1,631472,0,0,,,,,0,63118,0,0,1,40642,0,0 -17-43124168-A-G,17,43124168,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-53T>C,,c.-19-53T>C,intron_variant,,,,11,882506,0.000012464504490621027,0,0,nfe,0.00000945,8.29,,0.00,-0.0100,1.54,,,0,20222,0,0,0,30332,0,0,0,21098,0,0,0,32932,0,0,0,47146,0,0,0,3094,0,0,11,624602,0,0,,,,,0,62710,0,0,0,40370,0,0 -17-43124169-T-C,17,43124169,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-54A>G,,c.-19-54A>G,intron_variant,,,,1,878598,0.0000011381769592009087,0,0,,,5.24,,0.00,0.00,-0.117,,,0,20142,0,0,0,29904,0,0,0,21034,0,0,0,32918,0,0,0,46982,0,0,0,3074,0,0,1,621870,0,0,,,,,0,62394,0,0,0,40280,0,0 -17-43124169-T-TA,17,43124169,rs273898670,T,TA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-55_-19-54insT,,c.-19-55_-19-54insT,intron_variant,Uncertain significance,125473,,1,152184,0.000006570993008463439,0,0,,,4.72,,0.00,0.0100,-0.117,,,0,41448,0,0,0,15282,0,0,0,3470,0,0,1,5202,0,0,0,10594,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 -17-43124169-T-TG,17,43124169,,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-55dup,,c.-19-55dup,intron_variant,,,,3,878598,0.000003414530877602726,0,0,nfe,0.0000012800000000000002,4.72,,0.00,-0.0200,-0.117,,,0,20142,0,0,0,29904,0,0,0,21034,0,0,0,32918,0,0,0,46982,0,0,0,3074,0,0,3,621870,0,0,,,,,0,62394,0,0,0,40280,0,0 -17-43124170-GACA-G,17,43124170,rs8176078,GACA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-58_-19-56del,,c.-19-58_-19-56del,intron_variant,,,,256,1023540,0.00025011235515954433,0,0,afr,0.003188080000000001,8.83,,0.00,-0.0200,0.350,,,220,61520,0,0,16,44980,0,0,0,24404,0,0,0,38030,0,0,0,57384,0,0,0,3358,0,0,10,684022,0,0,0,912,0,0,0,66774,0,0,10,42156,0,0 -17-43124171-A-G,17,43124171,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-56T>C,,c.-19-56T>C,intron_variant,,,,1,336624,0.000002970673511098436,0,0,,,11.0,,0.00,-0.0200,0.459,,,0,5962,0,0,0,384,0,0,0,2048,0,0,0,1430,0,0,0,110,0,0,0,646,0,0,1,308536,0,0,,,,,0,6496,0,0,0,11012,0,0 -17-43125107-A-C,17,43125107,rs2154579681,A,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-390T>G,,c.-390T>G,5_prime_UTR_variant,,,,3,294824,0.000010175562369413617,0,0,nfe,0.00000522,7.16,,0.00,0.0300,-0.255,,,0,8102,0,0,0,27010,0,0,0,10540,0,0,0,8764,0,0,0,12192,0,0,0,2746,0,0,3,152906,0,0,,,,,0,58808,0,0,0,13756,0,0 -17-43125110-C-CT,17,43125110,,C,CT,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-394dup,,c.-394dup,5_prime_UTR_variant,,,,1,297986,0.0000033558623559496085,0,0,,,7.34,,0.00,-0.0100,-0.731,,,0,8254,0,0,0,27106,0,0,0,10634,0,0,0,8968,0,0,0,12274,0,0,0,2752,0,0,1,154824,0,0,,,,,0,59294,0,0,0,13880,0,0 -17-43125111-T-TCCCCCCCCCCCCCCCCCCCCCACCCC,17,43125111,,T,TCCCCCCCCCCCCCCCCCCCCCACCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGTGGGGGGGGGGGGGGGGGGGGG,,c.-395_-394insGGGGTGGGGGGGGGGGGGGGGGGGGG,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,6.35,,0.0300,-0.0500,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 -17-43125111-T-TTC,17,43125111,,T,TTC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGA,,c.-395_-394insGA,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,7.39,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 -17-43125111-T-TCCCCCCCCC,17,43125111,,T,TCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGG,,c.-395_-394insGGGGGGGGG,5_prime_UTR_variant,,,,8,285434,0.000028027494972568088,0,0,nfe,0.00000541,7.10,,0.00,0.00,0.0930,,,0,7498,0,0,1,26496,0,0,0,10324,0,0,1,8210,0,0,0,11970,0,0,0,2706,0,0,3,147472,0,0,,,,,1,57522,0,0,2,13236,0,0 -17-43125111-T-TCCCCCCCCCCCCCCCCCCCCC,17,43125111,,T,TCCCCCCCCCCCCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGGGGGGGGGGGGGG,,c.-395_-394insGGGGGGGGGGGGGGGGGGGGG,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,6.58,,0.0100,-0.0500,0.0930,,,0,7498,0,0,1,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 -17-43125111-T-C,17,43125111,rs1032040429,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-394A>G,,c.-394A>G,5_prime_UTR_variant,,,,14,423212,0.00003308034743816338,0,0,nfe,0.00002483,9.90,,0.00,0.0100,0.0930,,,0,42498,0,0,3,40192,0,0,0,13652,0,0,0,13002,0,0,1,21100,0,0,0,2996,0,0,10,211906,0,0,0,862,0,0,0,61902,0,0,0,15102,0,0 -17-43125111-T-TC,17,43125111,,T,TC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insG,,c.-395_-394insG,5_prime_UTR_variant,,,,7,285430,0.000024524401779770872,0,0,amr,0.00001249,7.44,,0.00,0.0100,0.0930,,,1,7498,0,0,2,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,2,147462,0,0,,,,,1,57526,0,0,1,13236,0,0 -17-43125111-T-TCCCCCCC,17,43125111,,T,TCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGG,,c.-395_-394insGGGGGGG,5_prime_UTR_variant,,,,6,285436,0.000021020473941619137,0,0,sas,0.00000577,7.18,,0.00,0.0100,0.0930,,,1,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,3,147468,0,0,,,,,2,57526,0,0,0,13236,0,0 -17-43125111-T-TCCCCC,17,43125111,,T,TCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGG,,c.-395_-394insGGGGG,5_prime_UTR_variant,,,,12,285436,0.000042040947883238274,0,0,sas,0.000045379999999999975,7.27,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,1,10322,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,5,147470,0,0,,,,,6,57526,0,0,0,13236,0,0 -17-43125111-T-TCCCCCCCCCC,17,43125111,,T,TCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGGG,,c.-395_-394insGGGGGGGGGG,5_prime_UTR_variant,,,,15,285430,0.00005255228952808044,0,0,sas,0.000045379999999999975,7.06,,0.0100,-0.0200,0.0930,,,0,7498,0,0,1,26498,0,0,1,10324,0,0,1,8210,0,0,0,11968,0,0,0,2704,0,0,5,147468,0,0,,,,,6,57524,0,0,1,13236,0,0 -17-43125111-T-TTCCC,17,43125111,,T,TTCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGA,,c.-395_-394insGGGA,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.31,,0.00,0.00,0.0930,,,1,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147470,0,0,,,,,0,57526,0,0,0,13236,0,0 -17-43125111-TG-T,17,43125111,,TG,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395del,,c.-395del,5_prime_UTR_variant,,,,32,285400,0.00011212333566923616,0,0,sas,0.00006860999999999998,5.88,,0.00,0.00,0.0930,,,0,7498,0,0,3,26498,0,0,1,10324,0,0,1,8210,0,0,1,11968,0,0,0,2706,0,0,16,147440,0,0,,,,,8,57522,0,0,2,13234,0,0 -17-43125111-T-TACC,17,43125111,,T,TACC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGT,,c.-395_-394insGGT,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.35,,0.00,0.0100,0.0930,,,0,7496,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,0,57526,0,0,2,13236,0,0 -17-43125111-T-TTCC,17,43125111,,T,TTCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGA,,c.-395_-394insGGA,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.35,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,1,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,1,57524,0,0,0,13236,0,0 -17-43125111-T-TCCCCCCCC,17,43125111,,T,TCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGG,,c.-395_-394insGGGGGGGG,5_prime_UTR_variant,,,,2,285440,0.000007006726457399103,0,0,nfe,0.0000022500000000000005,7.14,,0.0100,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,2,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 -17-43125111-T-TCCCCCC,17,43125111,,T,TCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGG,,c.-395_-394insGGGGGG,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.23,,0.0100,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147470,0,0,,,,,0,57526,0,0,1,13236,0,0 -17-43125112-G-GCCCCCCCCC,17,43125112,,G,GCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-396_-395insGGGGGGGGG,,c.-396_-395insGGGGGGGGG,5_prime_UTR_variant,,,,1,163410,0.000006119576525304449,0,0,,,6.18,,0.00,0.0100,-0.381,,,0,4162,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7210,0,0,0,2242,0,0,0,78898,0,0,,,,,0,34380,0,0,1,7368,0,0 -17-43125112-G-GCCCCCCCCCC,17,43125112,,G,GCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-396_-395insGGGGGGGGGG,,c.-396_-395insGGGGGGGGGG,5_prime_UTR_variant,,,,7,163406,0.00004283808428087096,0,0,nfe,0.00003227,6.13,,0.0100,-0.0200,-0.381,,,0,4160,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7208,0,0,0,2242,0,0,6,78898,0,0,,,,,0,34380,0,0,1,7368,0,0 -17-43125112-G-GCCCCCC,17,43125112,,G,GCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-401_-396dup,,c.-401_-396dup,5_prime_UTR_variant,,,,1,163414,0.000006119426732103736,0,0,,,6.32,,0.0100,0.0100,-0.381,,,0,4162,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7210,0,0,0,2242,0,0,1,78902,0,0,,,,,0,34380,0,0,0,7368,0,0 -17-43125112-G-GC,17,43125112,rs879045073,G,GC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-396dup,,c.-396dup,5_prime_UTR_variant,,,,45,270488,0.00016636597557008074,0,0,nfe,0.00014403,6.54,,0.00,-0.0100,-0.381,,,2,28898,0,0,1,28198,0,0,0,10122,0,0,2,7700,0,0,2,13854,0,0,0,2428,0,0,27,131760,0,0,0,704,0,0,10,37948,0,0,1,8876,0,0 -17-43125112-GC-G,17,43125112,rs879045073,GC,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-396del,,c.-396del,5_prime_UTR_variant,,,,34,270494,0.00012569594889350595,0,0,sas,0.0006132500000000002,3.80,,0.00,0.0100,-0.381,,,0,28898,0,0,0,28198,0,0,0,10120,0,0,0,7702,0,0,0,13854,0,0,0,2428,0,0,2,131768,0,0,0,704,0,0,32,37946,0,0,0,8876,0,0 -17-43125112-G-GCCCCCCCCCCCACCCCCCGC,17,43125112,,G,GCCCCCCCCCCCACCCCCCGC,gnomAD 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Exomes,PASS,NA,ENST00000618469.1,c.-398_-396dup,,c.-398_-396dup,5_prime_UTR_variant,,,,289,163240,0.0017703994119088458,0,0,sas,0.0019537199999999995,6.45,,0.00,0.0100,-0.381,,,3,4162,0,0,14,18204,0,0,5,7338,0,0,5,3600,0,0,15,7202,0,0,0,2242,0,0,145,78812,0,0,,,,,89,34318,0,0,13,7362,0,0 -17-43125112-G-GCCCCC,17,43125112,,G,GCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-400_-396dup,,c.-400_-396dup,5_prime_UTR_variant,,,,8,163410,0.00004895661220243559,0,0,nfe,0.000024510000000000004,6.36,,0.00,0.0100,-0.381,,,0,4162,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,1,7210,0,0,0,2242,0,0,5,78900,0,0,,,,,2,34378,0,0,0,7368,0,0 -17-43125113-C-A,17,43125113,rs558495450,C,A,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-396G>T,,c.-396G>T,5_prime_UTR_variant,,,,26,290620,0.00008946390475535063,0,0,afr,0.00262114,5.32,,0.00,0.0100,-0.754,,,25,7780,0,0,1,26590,0,0,0,10418,0,0,0,8568,0,0,0,12114,0,0,0,2708,0,0,0,150500,0,0,,,,,0,58436,0,0,0,13506,0,0 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Exomes,PASS,NA,ENST00000618469.1,c.-397G>A,,c.-397G>A,5_prime_UTR_variant,,,,2,293084,0.000006823982203054414,0,0,,,4.04,,0.00,0.00,0.384,,,0,7908,0,0,0,26788,0,0,0,10524,0,0,0,8612,0,0,0,12186,0,0,0,2730,0,0,1,151928,0,0,,,,,0,58778,0,0,1,13630,0,0 -17-43125116-C-T,17,43125116,rs2055812728,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-399G>A,,c.-399G>A,5_prime_UTR_variant,,,,2,293708,0.000006809484249662931,0,0,nfe,0.0000021800000000000003,8.16,,0.00,0.0100,0.190,,,0,7992,0,0,0,26824,0,0,0,10550,0,0,0,8646,0,0,0,12212,0,0,0,2734,0,0,2,152292,0,0,,,,,0,58790,0,0,0,13668,0,0 -17-43125118-C-G,17,43125118,rs923278479,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-401G>C,,c.-401G>C,5_prime_UTR_variant,,,,61,448390,0.00013604228461830102,0,0,afr,0.000989649999999999,0.0940,,0.00,0.0200,-4.29,,,61,49238,0,0,0,42142,0,0,0,14090,0,0,0,13946,0,0,0,22826,0,0,0,3072,0,0,0,222480,0,0,0,910,0,0,0,63762,0,0,0,15924,0,0 -17-43125118-C-CCCCCCCCCCT,17,43125118,,C,CCCCCCCCCCT,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-402_-401insAGGGGGGGGG,,c.-402_-401insAGGGGGGGGG,5_prime_UTR_variant,,,,1,296874,0.000003368432398930186,0,0,,,2.63,,0.0100,-0.0200,-4.29,,,0,8136,0,0,0,26936,0,0,0,10624,0,0,0,8776,0,0,0,12242,0,0,0,2756,0,0,0,154576,0,0,,,,,1,58974,0,0,0,13854,0,0 -17-43125120-C-T,17,43125120,rs1472959422,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-403G>A,,c.-403G>A,5_prime_UTR_variant,,,,3,451766,0.000006640605977430794,0,0,nfe,0.00000355,8.82,,0.00,0.00,-0.183,,,0,49402,0,0,0,42304,0,0,0,14152,0,0,0,14134,0,0,0,22794,0,0,0,3072,0,0,3,224746,0,0,0,910,0,0,0,64100,0,0,0,16152,0,0 -17-43125122-C-CCCCCGG,17,43125122,,C,CCCCCGG,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-406_-405insCCGGGG,,c.-406_-405insCCGGGG,5_prime_UTR_variant,,,,1,300980,0.000003322479898996611,0,0,,,7.72,,0.00,0.00,0.790,,,0,8450,0,0,0,27048,0,0,0,10700,0,0,0,8990,0,0,0,12314,0,0,0,2768,0,0,1,157176,0,0,,,,,0,59436,0,0,0,14098,0,0 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Exomes,PASS,NA,ENST00000618469.1,c.-413G>A,,c.-413G>A,5_prime_UTR_variant,,,,2,301860,0.000006625588020936858,0,0,sas,0.00000558,10.9,,0.00,0.00,1.34,,,0,8518,0,0,0,27054,0,0,0,10722,0,0,0,9036,0,0,0,12324,0,0,0,2772,0,0,0,157796,0,0,,,,,2,59506,0,0,0,14132,0,0 -17-43125134-A-G,17,43125134,rs953335102,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-417T>C,,c.-417T>C,5_prime_UTR_variant,,,,3,435204,0.000006893318995229823,0,0,,,10.7,,0.00,0.00,0.109,,,1,42490,0,0,2,40350,0,0,0,13988,0,0,0,13318,0,0,0,20806,0,0,0,3040,0,0,0,221212,0,0,0,860,0,0,0,63244,0,0,0,15896,0,0 -17-43125135-C-T,17,43125135,rs771582409,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-418G>A,,c.-418G>A,5_prime_UTR_variant,,,,1,301962,0.0000033116749789708637,0,0,,,3.53,,0.00,-0.0100,-1.20,,,0,8524,0,0,0,27036,0,0,0,10740,0,0,0,9056,0,0,0,12332,0,0,0,2772,0,0,0,157846,0,0,,,,,1,59512,0,0,0,14144,0,0 -17-43125135-C-A,17,43125135,rs771582409,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-418G>T,,c.-418G>T,5_prime_UTR_variant,,,,2,452242,0.000004422411010034451,0,0,,,2.85,,0.00,-0.0100,-1.20,,,0,49162,0,0,0,42038,0,0,0,14206,0,0,1,14164,0,0,0,22706,0,0,0,3084,0,0,1,225540,0,0,0,908,0,0,0,64238,0,0,0,16196,0,0 -17-43125137-C-T,17,43125137,rs573450142,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-420G>A,,c.-420G>A,5_prime_UTR_variant,,,,81,453522,0.00017860214057972932,1,0,sas,0.0010237799999999995,6.03,,0.00,0.00,0.473,,,0,49576,0,0,0,42248,0,0,0,14206,0,0,0,14218,0,0,0,22826,0,0,0,3074,0,0,0,225900,0,0,0,904,0,0,80,64310,1,0,1,16260,0,0 -17-43125139-TTAC-T,17,43125139,rs1255737412,TTAC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-425_-423del,,c.-425_-423del,5_prime_UTR_variant,,,,66,415644,0.00015878973352195628,0,0,nfe,0.00021758,6.55,,0.00,-0.0100,0.682,,,4,35524,0,0,2,37482,0,0,0,13770,0,0,0,12936,0,0,0,18840,0,0,0,2966,0,0,59,215204,0,0,0,808,0,0,0,62586,0,0,1,15528,0,0 -17-43125140-T-C,17,43125140,rs1476498293,T,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-423A>G,,c.-423A>G,5_prime_UTR_variant,,,,1,302210,0.0000033089573475397903,0,0,,,9.27,,0.0100,0.00,0.0850,,,0,8540,0,0,1,27090,0,0,0,10726,0,0,0,9082,0,0,0,12332,0,0,0,2782,0,0,0,157976,0,0,,,,,0,59520,0,0,0,14162,0,0 -17-43125141-A-T,17,43125141,rs1168637182,A,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-424T>A,,c.-424T>A,5_prime_UTR_variant,,,,1,301016,0.0000033220825471071304,0,0,,,9.47,,0.0100,0.00,0.161,,,0,8506,0,0,0,27042,0,0,0,10704,0,0,0,9024,0,0,0,12288,0,0,0,2778,0,0,0,157222,0,0,,,,,0,59380,0,0,1,14072,0,0 -17-43125142-C-G,17,43125142,rs1418816948,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-425G>C,,c.-425G>C,5_prime_UTR_variant,,,,7,453244,0.000015444219890390164,0,0,afr,0.000006720000000000001,6.92,,0.00,0.00,0.285,,,2,49380,0,0,0,42192,0,0,0,14210,0,0,0,14216,0,0,0,22788,0,0,0,3098,0,0,4,225888,0,0,0,908,0,0,0,64330,0,0,1,16234,0,0 -17-43125143-GCCT-G,17,43125143,rs1190974110,GCCT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-429_-427del,,c.-429_-427del,5_prime_UTR_variant,,,,66,414074,0.00015939179953341673,0,0,nfe,0.00021972999999999999,7.56,,0.00,0.0100,0.281,,,4,36898,0,0,2,37072,0,0,0,13684,0,0,0,12954,0,0,0,19158,0,0,0,2954,0,0,59,213080,0,0,0,838,0,0,0,62220,0,0,1,15216,0,0 -17-43125149-C-G,17,43125149,rs1408714998,C,G,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-432G>C,,c.-432G>C,5_prime_UTR_variant,,,,2,302888,0.000006603100816143261,0,0,amr,0.0000122,4.67,,0.00,-0.0100,-0.304,,,0,8566,0,0,2,27140,0,0,0,10752,0,0,0,9102,0,0,0,12350,0,0,0,2782,0,0,0,158386,0,0,,,,,0,59618,0,0,0,14192,0,0 -17-43125156-C-T,17,43125156,rs1176031617,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-439G>A,,c.-439G>A,5_prime_UTR_variant,,,,1,303128,0.000003298936422897258,0,0,,,10.8,,0.00,0.0100,3.39,,,0,8572,0,0,0,27168,0,0,0,10764,0,0,0,9112,0,0,0,12358,0,0,0,2782,0,0,0,158526,0,0,,,,,0,59644,0,0,1,14202,0,0 -17-43125157-G-A,17,43125157,rs2154579794,G,A,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-440C>T,,c.-440C>T,5_prime_UTR_variant,,,,1,299800,0.00000333555703802535,0,0,,,1.79,,0.0100,0.00,-0.276,,,0,8434,0,0,0,26966,0,0,0,10698,0,0,0,8878,0,0,0,12246,0,0,0,2768,0,0,1,156604,0,0,,,,,0,59166,0,0,0,14040,0,0 -17-43125158-C-T,17,43125158,rs909283005,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-441G>A,,c.-441G>A,5_prime_UTR_variant,,,,5,454452,0.000011002262065080581,0,0,afr,0.000026810000000000006,0.806,,0.00,0.0100,-1.24,,,4,49584,0,0,1,42320,0,0,0,14228,0,0,0,14262,0,0,0,22872,0,0,0,3098,0,0,0,226466,0,0,0,908,0,0,0,64452,0,0,0,16262,0,0 -17-43125161-CT-C,17,43125161,rs942225050,CT,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-445del,,c.-445del,5_prime_UTR_variant,,,,3,303354,0.00000988943610435333,0,0,afr,0.00003900999999999998,3.03,,0.00,0.00,0.586,,,1,8586,0,0,0,27188,0,0,0,10768,0,0,0,9142,0,0,0,12366,0,0,0,2782,0,0,1,158642,0,0,,,,,1,59676,0,0,0,14204,0,0 -17-43125162-T-C,17,43125162,rs778648450,T,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-445A>G,,c.-445A>G,5_prime_UTR_variant,,,,7,298718,0.000023433472371936072,0,0,nfe,0.00001231,6.95,,0.0200,0.00,-1.81,,,0,8402,0,0,0,26956,0,0,0,10680,0,0,0,8986,0,0,0,12222,0,0,0,2768,0,0,6,155754,0,0,,,,,0,58986,0,0,1,13964,0,0 -17-43125163-A-AC,17,43125163,rs759063490,A,AC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-447dup,,c.-447dup,5_prime_UTR_variant,Uncertain significance,371811,,134,398786,0.0003360198201541679,1,0,sas,0.0017825999999999999,0.185,,0.00,0.0100,-2.94,,,4,31746,0,0,0,35896,0,0,0,13444,0,0,0,12354,0,0,0,17598,0,0,0,2934,0,0,0,207264,0,0,0,684,0,0,128,61664,1,0,2,15202,0,0 -17-43125164-C-T,17,43125164,rs1327901298,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-447G>A,,c.-447G>A,5_prime_UTR_variant,,,,1,303820,0.000003291422552827332,0,0,,,0.235,,0.00,0.0100,-0.805,,,1,8602,0,0,0,27264,0,0,0,10786,0,0,0,9188,0,0,0,12370,0,0,0,2780,0,0,0,158886,0,0,,,,,0,59718,0,0,0,14226,0,0 -17-43125165-C-T,17,43125165,rs1430995690,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-448G>A,,c.-448G>A,5_prime_UTR_variant,,,,2,303842,0.000006582368467822092,0,0,,,5.22,,0.0100,0.0200,0.586,,,0,8604,0,0,0,27268,0,0,0,10784,0,0,0,9190,0,0,0,12370,0,0,1,2782,0,0,1,158896,0,0,,,,,0,59720,0,0,0,14228,0,0 -17-43125167-C-G,17,43125167,rs752555905,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-450G>C,,c.-450G>C,5_prime_UTR_variant,,,,41,455542,0.00009000267812847114,0,0,sas,0.00045397000000000005,8.66,,0.0300,0.0500,0.0920,,,0,49904,0,0,0,42474,0,0,0,14254,0,0,0,14334,0,0,0,22948,0,0,0,3076,0,0,1,226808,0,0,0,912,0,0,39,64512,0,0,1,16320,0,0 -17-43125168-C-G,17,43125168,rs1057517546,C,G,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-451G>C,,c.-451G>C,5_prime_UTR_variant,Uncertain significance,371814,,2,303830,0.0000065826284435375045,0,0,,,5.10,,0.0300,0.0400,-0.317,,,0,8600,0,0,0,27268,0,0,0,10786,0,0,0,9190,0,0,0,12370,0,0,0,2782,0,0,1,158888,0,0,,,,,1,59718,0,0,0,14228,0,0 -17-43125169-C-A,17,43125169,rs1036527805,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-452G>T,,c.-452G>T,5_prime_UTR_variant,,,,9,455412,0.000019762325103422835,0,0,nfe,0.000011500000000000002,1.47,,0.00,0.0100,-1.75,,,1,49778,0,0,0,42466,0,0,0,14252,0,0,1,14350,0,0,0,22936,0,0,0,3096,0,0,6,226806,0,0,0,912,0,0,0,64520,0,0,1,16296,0,0 -17-43125169-CG-C,17,43125169,rs1567824285,CG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-453del,,c.-453del,5_prime_UTR_variant,,,,3,455530,0.0000065857352973459485,0,0,,,0.179,,0.00,0.0100,-1.75,,,1,49900,0,0,0,42486,0,0,0,14252,0,0,1,14338,0,0,0,22936,0,0,0,3074,0,0,0,226798,0,0,0,912,0,0,1,64516,0,0,0,16318,0,0 -17-43125169-C-G,17,43125169,rs1036527805,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-452G>C,,c.-452G>C,5_prime_UTR_variant,,,,8,455412,0.00001756651120304252,0,0,amr,0.00001873,1.59,,0.0100,0.0100,-1.75,,,0,49778,0,0,3,42466,0,0,0,14252,0,0,0,14350,0,0,0,22936,0,0,0,3096,0,0,5,226806,0,0,0,912,0,0,0,64520,0,0,0,16296,0,0 -17-43125169-C-T,17,43125169,rs1036527805,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-452G>A,,c.-452G>A,5_prime_UTR_variant,,,,1,303798,0.0000032916609062600807,0,0,,,1.91,,0.00,-0.0200,-1.75,,,0,8592,0,0,0,27266,0,0,0,10786,0,0,0,9186,0,0,0,12370,0,0,0,2782,0,0,0,158878,0,0,,,,,1,59710,0,0,0,14228,0,0 -17-43125170-G-A,17,43125170,rs799905,G,A,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-453C>T,,c.-453C>T,5_prime_UTR_variant,,,,4,302280,0.000013232764324467381,0,0,sas,0.00001336,0.439,,0.00,-0.0100,0.598,,,0,8626,0,0,0,27162,0,0,0,10750,0,0,0,9112,0,0,0,12318,0,0,0,2778,0,0,1,157780,0,0,,,,,3,59610,0,0,0,14144,0,0 -17-43125170-G-C,17,43125170,rs799905,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-453C>G,,c.-453C>G,5_prime_UTR_variant,Benign,189123,,192695,443588,0.43440084041948834,46468,0,afr,0.8117463500000001,0.366,,0.00,-0.0100,0.598,,,39198,47888,15982,0,15588,40548,2953,0,5328,14084,985,0,5229,13734,985,0,8800,21344,1725,0,1310,3044,305,0,76602,221992,13012,0,256,846,40,0,33831,64026,9104,0,6553,16082,1377,0 -17-43125173-AAAG-A,17,43125173,rs1328673976,AAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-20+95_-20+97del,,c.-20+95_-20+97del,intron_variant,,,,1,302266,0.000003308344306008615,0,0,,,0.716,,0.00,0.0100,-0.382,,,0,8532,0,0,0,27196,0,0,0,10756,0,0,0,9126,0,0,0,12308,0,0,0,2774,0,0,0,158052,0,0,,,,,1,59384,0,0,0,14138,0,0 -17-43125176-G-T,17,43125176,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-20+95C>A,,c.-20+95C>A,intron_variant,,,,1,303912,0.000003290426175998315,0,0,,,1.09,,0.00,0.00,-0.277,,,0,8620,0,0,0,27276,0,0,0,10788,0,0,0,9202,0,0,0,12368,0,0,0,2782,0,0,1,158912,0,0,,,,,0,59730,0,0,0,14234,0,0 -17-43125178-A-C,17,43125178,rs938956048,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-20+93T>G,,c.-20+93T>G,intron_variant,,,,4,450826,0.000008872602733648903,0,0,afr,0.000028470000000000007,11.2,,0.00,0.0100,1.02,,,4,47902,0,0,0,42016,0,0,0,14228,0,0,0,14070,0,0,0,22156,0,0,0,3094,0,0,0,225934,0,0,0,904,0,0,0,64262,0,0,0,16260,0,0 -17-43125181-C-G,17,43125181,rs2154579839,C,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-20+1G>C,,c.-20+1G>C,splice_donor_variant,,,,1,303984,0.000003289646823517027,0,0,,,8.00,,0.0100,0.0200,0.00,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9206,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125182-C-T,17,43125182,rs2055819951,C,T,gnomAD Genomes,NA,PASS,ENST00000586385.5,p.Asp2Asn,p.Asp2Asn,c.4G>A,missense_variant,,,,1,151350,0.000006607201850016518,0,0,,,6.21,,0.00,-0.0400,1.97,,,0,41104,0,0,0,15148,0,0,0,3468,0,0,0,5148,0,0,0,10546,0,0,0,316,0,0,1,67888,0,0,0,908,0,0,0,4756,0,0,0,2068,0,0 -17-43125184-A-G,17,43125184,rs777691131,A,G,gnomAD Exomes,PASS,NA,ENST00000586385.5,p.Met1?,p.Met1?,c.2T>C,start_lost,,,,5,303978,0.000016448558777279935,0,0,sas,0.00003243,0.265,,0.200,0.0600,-2.34,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9206,0,0,0,12370,0,0,0,2782,0,0,0,158942,0,0,,,,,5,59744,0,0,0,14236,0,0 -17-43125186-C-T,17,43125186,rs2055820226,C,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-24G>A,,c.-24G>A,5_prime_UTR_variant,,,,1,151430,0.000006603711285742587,0,0,,,7.04,,0.120,0.0200,-0.0430,,,1,41108,0,0,0,15172,0,0,0,3466,0,0,0,5142,0,0,0,10560,0,0,0,316,0,0,0,67912,0,0,0,910,0,0,0,4772,0,0,0,2072,0,0 -17-43125187-T-A,17,43125187,rs2055820469,T,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-25A>T,,c.-25A>T,5_prime_UTR_variant,,,,1,144506,0.0000069201278839632955,0,0,,,8.16,,0.0800,0.0200,0.00900,,,0,37680,0,0,0,14250,0,0,0,3454,0,0,0,4854,0,0,0,9376,0,0,0,298,0,0,0,67120,0,0,0,898,0,0,1,4578,0,0,0,1998,0,0 -17-43125188-G-A,17,43125188,rs1406994561,G,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-26C>T,,c.-26C>T,5_prime_UTR_variant,,,,2,145154,0.000013778469763148105,0,0,afr,0.00000873,4.96,,0.00,0.0100,0.337,,,2,37972,0,0,0,14072,0,0,0,3460,0,0,0,4970,0,0,0,9410,0,0,0,296,0,0,0,67442,0,0,0,902,0,0,0,4644,0,0,0,1986,0,0 -17-43125190-C-T,17,43125190,rs2154579848,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-28G>A,,c.-28G>A,5_prime_UTR_variant,,,,1,303988,0.000003289603536981723,0,0,,,4.17,,0.00,-0.0100,-0.141,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125191-A-T,17,43125191,rs1057289796,A,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-29T>A,,c.-29T>A,5_prime_UTR_variant,,,,2,144538,0.000013837191603592135,0,0,afr,0.00000876,4.70,,0.00,-0.0100,-0.872,,,2,37820,0,0,0,14138,0,0,0,3434,0,0,0,4928,0,0,0,9330,0,0,0,294,0,0,0,67126,0,0,0,904,0,0,0,4582,0,0,0,1982,0,0 -17-43125192-G-A,17,43125192,rs2055821244,G,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-30C>T,,c.-30C>T,5_prime_UTR_variant,,,,1,147118,0.000006797264780652265,0,0,,,2.37,,0.00,0.00,0.0760,,,0,38854,0,0,0,14450,0,0,0,3464,0,0,0,5026,0,0,0,9798,0,0,0,302,0,0,0,67592,0,0,0,904,0,0,0,4696,0,0,1,2032,0,0 -17-43125196-C-T,17,43125196,rs1287894964,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-34G>A,,c.-34G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,5.31,,0.00,-0.0200,0.626,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158942,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125197-G-A,17,43125197,rs894166357,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-35C>T,,c.-35C>T,5_prime_UTR_variant,,,,7,451920,0.000015489467162329617,0,0,nfe,0.00000846,4.57,,0.00,0.0100,-0.643,,,1,47912,0,0,0,41932,0,0,0,14250,0,0,0,14270,0,0,0,22258,0,0,0,3092,0,0,5,226584,0,0,0,910,0,0,0,64444,0,0,1,16268,0,0 -17-43125198-GAA-G,17,43125198,rs2055821722,GAA,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-38_-37del,,c.-38_-37del,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,1.14,,0.0200,-0.0200,-0.379,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,1,9210,0,0,0,12372,0,0,0,2782,0,0,0,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125202-T-C,17,43125202,rs2154579865,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-40A>G,,c.-40A>G,5_prime_UTR_variant,,,,1,303980,0.000003289690111191526,0,0,,,1.80,,0.00,0.0200,-0.0860,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12370,0,0,0,2782,0,0,1,158940,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125204-C-T,17,43125204,rs2154579869,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-42G>A,,c.-42G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,0.732,,0.00,0.0100,-0.179,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125214-C-T,17,43125214,rs556032779,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-52G>A,,c.-52G>A,5_prime_UTR_variant,Likely benign,548880,,12,455924,0.000026320176169712497,0,0,nfe,0.000020640000000000002,0.392,,0.00,-0.0200,-0.916,,,2,50020,0,0,0,42524,0,0,0,14260,0,0,0,14368,0,0,0,22952,0,0,0,3076,0,0,9,226932,0,0,0,912,0,0,0,64540,0,0,1,16340,0,0 -17-43125216-C-T,17,43125216,rs772215665,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-54G>A,,c.-54G>A,5_prime_UTR_variant,Likely benign,371899,,11,455854,0.000024130533021537597,0,0,nfe,0.000017140000000000002,6.96,,0.130,-0.0300,0.638,,,1,49916,0,0,0,42526,0,0,0,14260,0,0,0,14380,0,0,0,22962,0,0,0,3098,0,0,8,226936,0,0,0,910,0,0,0,64550,0,0,2,16316,0,0 -17-43125219-G-A,17,43125219,rs2154579897,G,A,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-57C>T,,c.-57C>T,5_prime_UTR_variant,,,,1,303982,0.0000032896684672118744,0,0,,,1.59,,0.00,0.0100,0.306,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14232,0,0 -17-43125221-A-AC,17,43125221,,A,AC,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-60dup,,c.-60dup,5_prime_UTR_variant,,,,2,303980,0.000006579380222383052,0,0,,,6.36,,0.00,0.0200,-0.0310,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,2,12370,0,0,0,2782,0,0,0,158944,0,0,,,,,0,59744,0,0,0,14232,0,0 -17-43125223-C-T,17,43125223,rs1474438175,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-61G>A,,c.-61G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,6.49,,0.280,-0.0700,-0.717,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14232,0,0 -17-43125224-C-T,17,43125224,rs1222031799,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-62G>A,,c.-62G>A,5_prime_UTR_variant,,,,2,455940,0.000004386542088871342,0,0,,,3.49,,0.240,0.120,0.0650,,,2,49960,0,0,0,42536,0,0,0,14262,0,0,0,14384,0,0,0,22980,0,0,0,3098,0,0,0,226940,0,0,0,912,0,0,0,64548,0,0,0,16320,0,0 -17-43125225-C-G,17,43125225,rs1292324820,C,G,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-63G>C,,c.-63G>C,5_prime_UTR_variant,,,,1,151966,0.000006580419304318071,0,0,,,5.62,,0.120,0.0300,-0.187,,,0,41348,0,0,0,15254,0,0,0,3470,0,0,0,5176,0,0,0,10594,0,0,0,316,0,0,1,68004,0,0,0,910,0,0,0,4802,0,0,0,2092,0,0 -17-43125229-G-C,17,43125229,rs2055823239,G,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-67C>G,,c.-67C>G,5_prime_UTR_variant,,,,1,303988,0.000003289603536981723,0,0,,,0.947,,0.00,0.0200,-0.0930,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12374,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125230-C-T,17,43125230,rs2055823430,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-68G>A,,c.-68G>A,5_prime_UTR_variant,,,,1,303990,0.0000032895818941412546,0,0,,,1.50,,0.00,-0.0100,0.00200,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12376,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125233-C-G,17,43125233,rs2154579918,C,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-71G>C,,c.-71G>C,5_prime_UTR_variant,,,,1,303994,0.0000032895386093146577,0,0,,,5.90,,0.0100,-0.0200,0.203,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125236-T-C,17,43125236,rs1195556275,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-74A>G,,c.-74A>G,5_prime_UTR_variant,,,,1,303992,0.000003289560251585568,0,0,,,0.570,,0.0700,0.0600,-0.765,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125241-C-T,17,43125241,rs1396251367,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-79G>A,,c.-79G>A,5_prime_UTR_variant,,,,1,303990,0.0000032895818941412546,0,0,,,6.28,,0.00,-0.0300,-0.750,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,1,9210,0,0,0,12378,0,0,0,2782,0,0,0,158942,0,0,,,,,0,59744,0,0,0,14234,0,0 -17-43125243-C-T,17,43125243,rs904265019,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-81G>A,,c.-81G>A,5_prime_UTR_variant,Likely benign,803422,,3,456060,0.000006578081831337982,0,0,nfe,0.00000352,6.15,,0.0300,-0.0900,0.0920,,,0,50008,0,0,0,42538,0,0,0,14262,0,0,0,14402,0,0,0,22974,0,0,0,3098,0,0,3,226974,0,0,0,912,0,0,0,64566,0,0,0,16326,0,0 -17-43125244-C-T,17,43125244,rs1172227698,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-82G>A,,c.-82G>A,5_prime_UTR_variant,,,,1,303994,0.0000032895386093146577,0,0,,,11.4,,0.0100,-0.0500,1.48,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12376,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125245-C-T,17,43125245,rs746485760,C,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-83G>A,,c.-83G>A,5_prime_UTR_variant,,,,1,152126,0.000006573498284316948,0,0,,,5.44,,0.0100,-0.0300,-0.0300,,,1,41420,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10612,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 -17-43125245-C-A,17,43125245,rs746485760,C,A,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-83G>T,,c.-83G>T,5_prime_UTR_variant,,,,2,303998,0.0000065789906512542845,0,0,sas,0.00000555,4.75,,0.00,-0.0200,-0.0300,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12380,0,0,0,2782,0,0,0,158946,0,0,,,,,2,59744,0,0,0,14236,0,0 -17-43125247-G-C,17,43125247,rs2055824503,G,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-85C>G,,c.-85C>G,5_prime_UTR_variant,,,,1,303998,0.0000032894953256271422,0,0,,,1.35,,0.0300,0.0300,-0.389,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158948,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125248-T-C,17,43125248,rs746498642,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-86A>G,,c.-86A>G,5_prime_UTR_variant,,,,1,304000,0.0000032894736842105265,0,0,,,12.8,,0.00,0.0200,0.599,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12380,0,0,0,2782,0,0,1,158948,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125252-T-G,17,43125252,,T,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-90A>C,,c.-90A>C,5_prime_UTR_variant,Likely benign,2087470,,1,303994,0.0000032895386093146577,0,0,,,7.76,,0.00,0.0200,-0.0700,,,0,8628,0,0,0,27280,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14236,0,0 -17-43125258-G-A,17,43125258,rs770368390,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-96C>T,,c.-96C>T,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,382001,,18,455896,0.000039482689034341166,0,0,sas,0.00017963999999999998,0.115,,0.0100,-0.0100,-3.06,,,0,49932,0,0,0,42522,0,0,0,14262,0,0,0,14386,0,0,0,22950,0,0,0,3098,0,0,0,226954,0,0,0,912,0,0,18,64556,0,0,0,16324,0,0 -17-43125260-G-A,17,43125260,rs273898672,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-98C>T,,c.-98C>T,5_prime_UTR_variant,Benign/Likely benign,125464,,240,456182,0.0005261058086465489,0,0,nfe,0.00080171,6.40,,0.0200,0.0100,-0.0400,,,16,50146,0,0,9,42572,0,0,0,14262,0,0,0,14386,0,0,1,22966,0,0,0,3076,0,0,205,226954,0,0,0,912,0,0,0,64558,0,0,9,16350,0,0 +gnomAD ID,Chromosome,Position,rsIDs,Reference,Alternate,Source,Filters - exomes,Filters - genomes,Transcript,HGVS Consequence,Protein Consequence,Transcript Consequence,VEP Annotation,ClinVar Clinical Significance,ClinVar Variation ID,Flags,Allele Count,Allele Number,Allele Frequency,Homozygote Count,Hemizygote Count,GroupMax FAF group,GroupMax FAF frequency,cadd,revel_max,spliceai_ds_max,pangolin_largest_ds,phylop,sift_max,polyphen_max,Allele Count African/African American,Allele Number African/African American,Homozygote Count African/African American,Hemizygote Count African/African American,Allele Count Admixed American,Allele Number Admixed American,Homozygote Count Admixed American,Hemizygote Count Admixed American,Allele Count Ashkenazi Jewish,Allele Number Ashkenazi Jewish,Homozygote Count Ashkenazi Jewish,Hemizygote Count Ashkenazi Jewish,Allele Count East Asian,Allele Number East Asian,Homozygote Count East Asian,Hemizygote Count East Asian,Allele Count European (Finnish),Allele Number European (Finnish),Homozygote Count European (Finnish),Hemizygote Count European (Finnish),Allele Count Middle Eastern,Allele Number Middle Eastern,Homozygote Count Middle Eastern,Hemizygote Count Middle Eastern,Allele Count European (non-Finnish),Allele Number European (non-Finnish),Homozygote Count European (non-Finnish),Hemizygote Count European (non-Finnish),Allele Count Amish,Allele Number Amish,Homozygote Count Amish,Hemizygote Count Amish,Allele Count South Asian,Allele Number South Asian,Homozygote Count South Asian,Hemizygote Count South Asian,Allele Count Remaining,Allele Number Remaining,Homozygote Count Remaining,Hemizygote Count Remaining +17-43045606-C-G,17,43045606,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*72G>C,,c.*72G>C,3_prime_UTR_variant,,,,1,1444884,6.920970818418641e-7,0,0,,,2.51,,,0.0300,0.248,,,0,32996,0,0,0,44218,0,0,0,25974,0,0,1,39564,0,0,0,53278,0,0,0,5042,0,0,0,1098580,0,0,,,,,0,85490,0,0,0,59742,0,0 +17-43045609-G-GA,17,43045609,,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*68_*69insT,,c.*68_*69insT,3_prime_UTR_variant,,,,1,1448746,6.902521214898954e-7,0,0,,,5.64,,,0.0200,2.27,,,0,33066,0,0,0,44330,0,0,0,26008,0,0,0,39606,0,0,1,53310,0,0,0,5072,0,0,0,1101808,0,0,,,,,0,85656,0,0,0,59890,0,0 +17-43045609-G-T,17,43045609,rs2152454337,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*69C>A,,c.*69C>A,3_prime_UTR_variant,,,,1,1448744,6.902530743871933e-7,0,0,,,1.95,,,-0.0100,2.27,,,0,33066,0,0,0,44330,0,0,0,26008,0,0,0,39606,0,0,0,53310,0,0,0,5072,0,0,1,1101806,0,0,,,,,0,85656,0,0,0,59890,0,0 +17-43045610-G-GCTC,17,43045610,,G,GCTC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*67_*68insGAG,,c.*67_*68insGAG,3_prime_UTR_variant,,,,1,1450924,6.892159754749387e-7,0,0,,,5.55,,,0.0200,0.360,,,0,33126,0,0,0,44380,0,0,0,26026,0,0,0,39622,0,0,1,53320,0,0,0,5100,0,0,0,1103696,0,0,,,,,0,85714,0,0,0,59940,0,0 +17-43045611-C-T,17,43045611,rs754327493,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*67G>A,,c.*67G>A,3_prime_UTR_variant,,,,7,1453012,0.000004817578932589683,0,0,sas,0.00001588,4.78,,,0.0100,1.41,,,0,33182,0,0,0,44420,0,0,0,26034,0,0,0,39624,0,0,0,53338,0,0,0,5136,0,0,1,1105436,0,0,,,,,4,85824,0,0,2,60018,0,0 +17-43045613-T-A,17,43045613,rs1201063821,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*65A>T,,c.*65A>T,3_prime_UTR_variant,,,,1,1457698,6.860131522441549e-7,0,0,,,6.07,,,0.0100,-0.265,,,0,33304,0,0,0,44464,0,0,0,26086,0,0,0,39656,0,0,1,53354,0,0,0,5224,0,0,0,1109446,0,0,,,,,0,85968,0,0,0,60196,0,0 +17-43045615-G-A,17,43045615,rs539044217,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.*63C>T,,c.*63C>T,3_prime_UTR_variant,,,,2,152330,0.000013129390139828005,0,0,,,8.99,,,0.0100,1.11,,,0,41582,0,0,1,15306,0,0,0,3472,0,0,0,5178,0,0,0,10624,0,0,0,294,0,0,1,68016,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 +17-43045616-AAAG-A,17,43045616,,AAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*59_*61del,,c.*59_*61del,3_prime_UTR_variant,,,,1,627378,0.0000015939353946105856,0,0,,,7.69,,,0.0100,0.0990,,,0,17604,0,0,0,43582,0,0,0,20954,0,0,0,36056,0,0,1,53098,0,0,0,3694,0,0,0,349774,0,0,,,,,0,69634,0,0,0,32982,0,0 +17-43045618-A-G,17,43045618,rs778988967,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*60T>C,,c.*60T>C,3_prime_UTR_variant,,,,1,627456,0.0000015937372501019992,0,0,,,9.86,,,0.00,1.59,,,0,17614,0,0,0,43590,0,0,0,20950,0,0,1,36056,0,0,0,53108,0,0,0,3748,0,0,0,349756,0,0,,,,,0,69642,0,0,0,32992,0,0 +17-43045619-G-A,17,43045619,rs2050849024,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*59C>T,,c.*59C>T,3_prime_UTR_variant,,,,2,1459694,0.0000013701501821614667,0,0,nfe,2.999999999999999e-7,9.57,,,0.0100,1.75,,,0,33382,0,0,0,44586,0,0,0,26110,0,0,0,39676,0,0,0,53390,0,0,0,5392,0,0,2,1110800,0,0,,,,,0,86096,0,0,0,60262,0,0 +17-43045620-G-A,17,43045620,rs137892861,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*58C>T,,c.*58C>T,3_prime_UTR_variant,Uncertain significance,220816,,12,1612226,0.000007443125219417129,0,0,nfe,0.00000501,4.59,,,0.0100,0.343,,,1,74958,0,0,0,59880,0,0,0,29578,0,0,0,44864,0,0,0,64010,0,0,0,5694,0,0,11,1179022,0,0,0,912,0,0,0,90938,0,0,0,62370,0,0 +17-43045620-G-GCTC,17,43045620,,G,GCTC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*57_*58insGAG,,c.*57_*58insGAG,3_prime_UTR_variant,,,,1,1459908,6.849746696367168e-7,0,0,,,3.44,,,0.0200,0.343,,,0,33384,0,0,0,44576,0,0,0,26110,0,0,0,39682,0,0,1,53390,0,0,0,5400,0,0,0,1110998,0,0,,,,,0,86110,0,0,0,60258,0,0 +17-43045620-G-T,17,43045620,rs137892861,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*58C>A,,c.*58C>A,3_prime_UTR_variant,,,,4,1612108,0.0000024812233423567155,0,0,nfe,7.899999999999998e-7,3.58,,,0.0300,0.343,,,0,74836,0,0,0,59860,0,0,0,29578,0,0,0,44876,0,0,0,64010,0,0,0,5716,0,0,4,1179030,0,0,0,912,0,0,0,90942,0,0,0,62348,0,0 +17-43045622-C-T,17,43045622,rs2152458384,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*56G>A,,c.*56G>A,3_prime_UTR_variant,,,,1,832718,0.0000012008867347649505,0,0,,,7.05,,,0.0200,0.828,,,0,15776,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,1,761556,0,0,,,,,0,16448,0,0,0,27284,0,0 +17-43045628-G-A,17,43045628,rs2050849332,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*50C>T,,c.*50C>T,3_prime_UTR_variant,,,,5,1460896,0.0000034225571156331457,0,0,nfe,7.200000000000001e-7,7.11,,,0.0200,2.25,,,0,33400,0,0,0,44632,0,0,0,26120,0,0,0,39688,0,0,0,53410,0,0,0,5558,0,0,3,1111614,0,0,,,,,0,86166,0,0,2,60308,0,0 +17-43045635-C-A,17,43045635,rs758539310,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*43G>T,,c.*43G>T,3_prime_UTR_variant,,,,2,628026,0.000003184581530064042,0,0,,,0.517,,0.00,0.0300,-0.0480,,,0,17628,0,0,0,43638,0,0,0,20966,0,0,1,36062,0,0,0,53138,0,0,0,4032,0,0,0,349824,0,0,,,,,1,69710,0,0,0,33028,0,0 +17-43045639-C-T,17,43045639,rs777938968,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*39G>A,,c.*39G>A,3_prime_UTR_variant,,,,4,1461184,0.0000027375060225132495,0,0,nfe,8.4e-7,0.220,,0.00,0.0200,-0.165,,,0,33424,0,0,0,44644,0,0,0,26114,0,0,0,39696,0,0,0,53416,0,0,0,5690,0,0,4,1111658,0,0,,,,,0,86192,0,0,0,60350,0,0 +17-43045642-G-A,17,43045642,rs3092995,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*36C>T,,c.*36C>T,3_prime_UTR_variant,,,,5,1613324,0.000003099191482925934,0,0,afr,0.00000443,0.852,,0.00,0.0200,0.335,,,2,74862,0,0,1,59920,0,0,0,29580,0,0,0,44876,0,0,0,64026,0,0,0,6012,0,0,2,1179668,0,0,0,912,0,0,0,91022,0,0,0,62446,0,0 +17-43045642-G-C,17,43045642,rs3092995,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*36C>G,,c.*36C>G,3_prime_UTR_variant,Benign,125873,,4263,1613442,0.002642177407058946,102,0,afr,0.04755613,0.522,,0.00,0.0500,0.335,,,3665,74984,97,0,245,59940,3,0,2,29580,0,0,0,44864,0,0,0,64026,0,0,16,5990,1,0,75,1179660,0,0,0,912,0,0,12,91018,0,0,248,62468,1,0 +17-43045647-C-T,17,43045647,rs776323505,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*31G>A,,c.*31G>A,3_prime_UTR_variant,,,,20,1613404,0.000012396151242962085,0,0,eas,0.00024073999999999998,7.50,,0.00,0.0300,4.06,,,0,74886,0,0,0,59948,0,0,0,29578,0,0,17,44876,0,0,0,64032,0,0,0,6020,0,0,1,1179674,0,0,0,912,0,0,0,91020,0,0,2,62458,0,0 +17-43045648-C-T,17,43045648,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*30G>A,,c.*30G>A,3_prime_UTR_variant,,,,1,833108,0.0000012003245677631232,0,0,,,2.34,,0.00,0.0100,0.612,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045652-G-A,17,43045652,rs745752144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*26C>T,,c.*26C>T,3_prime_UTR_variant,,,,1,628192,0.0000015918700015281952,0,0,,,2.98,,0.00,0.0100,3.75,,,0,17650,0,0,1,43680,0,0,0,20954,0,0,0,36062,0,0,0,53130,0,0,0,4102,0,0,0,349808,0,0,,,,,0,69738,0,0,0,33068,0,0 +17-43045653-G-A,17,43045653,rs769632909,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*25C>T,,c.*25C>T,3_prime_UTR_variant,,,,2,628278,0.0000031833042060998477,0,0,,,7.97,,0.00,-0.0100,2.36,,,1,17674,0,0,0,43698,0,0,0,20956,0,0,0,36062,0,0,0,53126,0,0,0,4104,0,0,0,349846,0,0,,,,,1,69744,0,0,0,33068,0,0 +17-43045655-T-G,17,43045655,rs1305255318,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*23A>C,,c.*23A>C,3_prime_UTR_variant,,,,1,628332,0.0000015915153135603471,0,0,,,0.444,,0.00,0.0300,0.0420,,,0,17680,0,0,0,43700,0,0,0,20964,0,0,0,36060,0,0,0,53132,0,0,0,4116,0,0,1,349856,0,0,,,,,0,69748,0,0,0,33076,0,0 +17-43045656-C-G,17,43045656,rs1346384762,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.*22G>C,,c.*22G>C,3_prime_UTR_variant,Likely benign,1697598,,20,1613632,0.000012394399714433031,0,0,sas,0.00014506,0.345,,0.00,-0.0200,0.548,,,0,74924,0,0,0,59956,0,0,0,29586,0,0,0,44882,0,0,0,64020,0,0,0,6042,0,0,0,1179794,0,0,0,912,0,0,20,91044,0,0,0,62472,0,0 +17-43045657-T-C,17,43045657,rs1232678023,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*21A>G,,c.*21A>G,3_prime_UTR_variant,,,,3,1461378,0.000002052856961032669,0,0,,,1.25,,0.00,0.140,0.841,,,1,33464,0,0,0,44684,0,0,0,26110,0,0,0,39690,0,0,0,53408,0,0,0,5734,0,0,1,1111710,0,0,,,,,1,86210,0,0,0,60368,0,0 +17-43045658-G-A,17,43045658,rs375042815,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*20C>T,,c.*20C>T,3_prime_UTR_variant,Conflicting interpretations of pathogenicity,182099,,12,1461428,0.000008211146905629288,0,0,afr,0.0000099,2.29,,0.00,-0.0300,-1.65,,,2,33470,0,0,0,44684,0,0,0,26116,0,0,0,39692,0,0,0,53404,0,0,0,5742,0,0,9,1111732,0,0,,,,,0,86214,0,0,1,60374,0,0 +17-43045659-T-C,17,43045659,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*19A>G,,c.*19A>G,3_prime_UTR_variant,,,,1,628310,0.0000015915710397733604,0,0,,,0.275,,0.00,-0.140,-0.652,,,0,17678,0,0,0,43700,0,0,0,20960,0,0,0,36062,0,0,0,53128,0,0,0,4120,0,0,1,349830,0,0,,,,,0,69756,0,0,0,33076,0,0 +17-43045661-C-T,17,43045661,rs2152470975,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*17G>A,,c.*17G>A,3_prime_UTR_variant,,,,1,1461408,6.842716065602487e-7,0,0,,,0.526,,0.00,0.180,-2.02,,,0,33470,0,0,0,44686,0,0,0,26112,0,0,0,39692,0,0,0,53404,0,0,0,5748,0,0,0,1111704,0,0,,,,,1,86216,0,0,0,60376,0,0 +17-43045664-G-C,17,43045664,rs1064796142,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*14C>G,,c.*14C>G,3_prime_UTR_variant,Uncertain significance,422987,,1,628308,0.000001591576105986236,0,0,,,0.546,,0.00,0.0600,-2.42,,,0,17678,0,0,0,43696,0,0,0,20960,0,0,0,36062,0,0,0,53130,0,0,0,4134,0,0,1,349810,0,0,,,,,0,69758,0,0,0,33080,0,0 +17-43045665-T-G,17,43045665,rs762552027,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*13A>C,,c.*13A>C,3_prime_UTR_variant,Likely benign,2576270,,10,1461402,0.000006842744159375723,0,0,sas,0.00005397999999999999,0.432,,0.00,0.0200,-0.981,,,0,33466,0,0,0,44680,0,0,0,26106,0,0,0,39692,0,0,0,53406,0,0,1,5756,0,0,0,1111720,0,0,,,,,9,86210,0,0,0,60366,0,0 +17-43045667-G-T,17,43045667,rs2152472885,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*11C>A,,c.*11C>A,3_prime_UTR_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.4,,0.00,0.0200,2.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045668-C-T,17,43045668,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*10G>A,,c.*10G>A,3_prime_UTR_variant,,,,1,628188,0.0000015918801377931447,0,0,,,5.74,,0.00,0.0400,0.0140,,,0,17674,0,0,0,43686,0,0,0,20944,0,0,0,36058,0,0,0,53130,0,0,0,4134,0,0,1,349748,0,0,,,,,0,69744,0,0,0,33070,0,0 +17-43045674-G-A,17,43045674,rs1057520246,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*4C>T,,c.*4C>T,3_prime_UTR_variant,Conflicting interpretations of pathogenicity,377575,,3,1461294,0.0000020529749660232643,0,0,nfe,7.200000000000001e-7,10.2,,0.00,-0.140,0.226,,,0,33462,0,0,0,44658,0,0,0,26112,0,0,0,39688,0,0,0,53400,0,0,0,5762,0,0,3,1111642,0,0,,,,,0,86208,0,0,0,60362,0,0 +17-43045675-C-T,17,43045675,rs1057521525,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.*3G>A,,c.*3G>A,3_prime_UTR_variant,,,,1,152172,0.000006571511184712037,0,0,,,3.87,,0.00,0.0100,-0.0100,,,1,41434,0,0,0,15272,0,0,0,3472,0,0,0,5188,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 +17-43045676-A-T,17,43045676,rs2152475848,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.*2T>A,,c.*2T>A,3_prime_UTR_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.77,,0.00,0.0100,0.0700,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045682-T-C,17,43045682,rs1567756242,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Cys,p.Tyr1863Cys,c.5588A>G,missense_variant,Uncertain significance,631316,,2,1461468,0.0000013684870281114605,0,0,nfe,2.999999999999999e-7,23.7,0.461,0.00,0.00,0.156,0.00,0.00,0,33470,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53406,0,0,0,5768,0,0,2,1111722,0,0,,,,,0,86216,0,0,0,60370,0,0 +17-43045683-A-T,17,43045683,rs763740623,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Asn,p.Tyr1863Asn,c.5587T>A,missense_variant,,,,2,1461458,0.0000013684963919592625,0,0,,,22.9,0.517,0.00,0.0200,0.329,0.00,0.0310,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,1,86220,0,0,0,60370,0,0 +17-43045683-A-C,17,43045683,rs763740623,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863Asp,p.Tyr1863Asp,c.5587T>G,missense_variant,Uncertain significance,231744,,1,1461458,6.842481959796313e-7,0,0,,,22.9,0.521,0.00,0.0800,0.329,0.00,0.0430,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,0,86220,0,0,0,60370,0,0 +17-43045683-A-G,17,43045683,rs763740623,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1863His,p.Tyr1863His,c.5587T>C,missense_variant,,,,1,1461458,6.842481959796313e-7,0,0,,,22.9,0.407,0.00,0.0100,0.329,0.00,0.00,0,33472,0,0,0,44700,0,0,0,26110,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,1,1111716,0,0,,,,,0,86220,0,0,0,60370,0,0 +17-43045684-G-A,17,43045684,rs774127304,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1862His,p.His1862His,c.5586C>T,synonymous_variant,Likely benign,185343,,53,1613678,0.000032844222949064185,0,0,nfe,0.00003341,5.28,,0.00,-0.0500,2.91,,,0,74926,0,0,0,59990,0,0,0,29582,0,0,0,44880,0,0,0,64028,0,0,0,6084,0,0,51,1179756,0,0,0,912,0,0,0,91056,0,0,2,62464,0,0 +17-43045685-T-A,17,43045685,rs80357183,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1862Leu,p.His1862Leu,c.5585A>T,missense_variant,Conflicting interpretations of pathogenicity,55637,,8,780506,0.000010249761052445464,0,0,nfe,0.000009230000000000001,14.4,0.553,0.00,0.0300,-0.658,0.0100,0.00,0,59140,0,0,0,58990,0,0,0,24434,0,0,0,41242,0,0,0,63756,0,0,0,4464,0,0,8,417818,0,0,0,912,0,0,0,74592,0,0,0,35158,0,0 +17-43045685-TG-T,17,43045685,rs2152482866,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1862ThrfsTer60,p.His1862ThrfsTer60,c.5584del,frameshift_variant,,,,1,628324,0.0000015915355771862925,0,0,,,23.6,,0.00,0.170,-0.658,,,0,17686,0,0,0,43706,0,0,0,20962,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,349794,0,0,,,,,0,69758,0,0,1,33072,0,0 +17-43045686-G-A,17,43045686,rs761585448,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1862Tyr,p.His1862Tyr,c.5584C>T,missense_variant,Uncertain significance,1748439,,1,628340,0.000001591495050450393,0,0,,,7.96,0.581,0.00,0.0400,-0.196,0.120,0.0910,0,17688,0,0,0,43708,0,0,0,20958,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,0,349814,0,0,,,,,1,69754,0,0,0,33074,0,0 +17-43045688-C-T,17,43045688,rs2152483837,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1861Asn,p.Ser1861Asn,c.5582G>A,missense_variant,Uncertain significance,1381587,,1,628308,0.000001591576105986236,0,0,,,20.7,0.465,0.00,0.0200,1.49,0.0300,0.00600,0,17688,0,0,1,43702,0,0,0,20960,0,0,0,36062,0,0,0,53128,0,0,0,4146,0,0,0,349812,0,0,,,,,0,69740,0,0,0,33070,0,0 +17-43045690-GTGGGGGATC-G,17,43045690,rs775417240,GTGGGGGATC,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1857_Pro1859del,p.Gln1857_Pro1859del,c.5571_5579del,inframe_deletion,Conflicting interpretations of pathogenicity,187111,,35,1613712,0.000021689124205558363,0,0,sas,0.00028333000000000015,11.9,,0.00,0.0800,-0.582,,,0,74924,0,0,0,59976,0,0,0,29584,0,0,0,44878,0,0,0,64034,0,0,0,6084,0,0,0,1179812,0,0,0,912,0,0,35,91046,0,0,0,62462,0,0 +17-43045690-G-T,17,43045690,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860Gln,p.His1860Gln,c.5580C>A,missense_variant,Likely benign,1748423,,1,1461500,6.842285323297981e-7,0,0,,,7.37,0.581,0.00,-0.0200,-0.582,0.250,0.00,0,33476,0,0,0,44692,0,0,0,26112,0,0,0,39692,0,0,0,53406,0,0,0,5768,0,0,1,1111774,0,0,,,,,0,86208,0,0,0,60372,0,0 +17-43045691-T-TG,17,43045691,rs397507254,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860ProfsTer20,p.His1860ProfsTer20,c.5578dup,frameshift_variant,Conflicting interpretations of pathogenicity,37683,,5,627376,0.000007969702379434343,0,0,,,24.2,,0.00,0.150,-0.957,,,0,17684,0,0,0,43710,0,0,0,20950,0,0,0,36060,0,0,2,52514,0,0,0,4146,0,0,1,349604,0,0,,,,,0,69696,0,0,2,33012,0,0 +17-43045692-G-C,17,43045692,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1860Asp,p.His1860Asp,c.5578C>G,missense_variant,,,,1,628276,0.000001591657169778887,0,0,,,20.0,0.561,0.00,0.110,0.380,0.00,0.0150,0,17684,0,0,0,43700,0,0,0,20958,0,0,0,36060,0,0,0,53136,0,0,0,4148,0,0,0,349826,0,0,,,,,1,69686,0,0,0,33078,0,0 +17-43045694-G-C,17,43045694,rs80357322,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1859Arg,p.Pro1859Arg,c.5576C>G,missense_variant,Benign,55634,,99,1613526,0.00006135630910192956,0,0,nfe,0.00006477,22.6,0.509,0.00,0.100,3.94,0.00,0.371,0,74902,0,0,0,59972,0,0,0,29582,0,0,0,44878,0,0,0,64020,0,0,0,6084,0,0,92,1179768,0,0,0,912,0,0,0,90956,0,0,7,62452,0,0 +17-43045695-G-T,17,43045695,rs1555574342,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1859Thr,p.Pro1859Thr,c.5575C>A,missense_variant,Uncertain significance,462676,,2,628286,0.0000031832636729132913,0,0,nfe,9.5e-7,6.07,0.554,0.00,0.0600,-1.02,0.200,0.00300,0,17684,0,0,0,43708,0,0,0,20954,0,0,0,36064,0,0,0,53134,0,0,0,4144,0,0,2,349836,0,0,,,,,0,69692,0,0,0,33070,0,0 +17-43045696-G-C,17,43045696,rs876659941,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1858Met,p.Ile1858Met,c.5574C>G,missense_variant,Uncertain significance,438943,,2,1461422,0.0000013685301028724078,0,0,,,18.5,0.510,0.00,0.0400,0.927,0.0500,0.0150,0,33470,0,0,0,44700,0,0,0,26116,0,0,0,39696,0,0,0,53406,0,0,1,5768,0,0,1,1111760,0,0,,,,,0,86134,0,0,0,60372,0,0 +17-43045696-G-A,17,43045696,rs876659941,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1858Ile,p.Ile1858Ile,c.5574C>T,synonymous_variant,Likely benign,232711,,1,152170,0.0000065715975553657095,0,0,,,5.18,,0.00,-0.0100,0.927,,,0,41434,0,0,0,15270,0,0,1,3472,0,0,0,5188,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43045697-A-G,17,43045697,rs755427809,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1858Thr,p.Ile1858Thr,c.5573T>C,missense_variant,Conflicting interpretations of pathogenicity,186496,,2,151814,0.000013174015571686406,0,0,afr,0.00001349,21.6,0.514,0.00,-0.0100,0.533,0.0500,0.0130,2,41318,0,0,0,15256,0,0,0,3472,0,0,0,5158,0,0,0,10558,0,0,0,316,0,0,0,67952,0,0,0,912,0,0,0,4794,0,0,0,2078,0,0 +17-43045698-T-G,17,43045698,rs765656957,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1858Leu,p.Ile1858Leu,c.5572A>C,missense_variant,Benign,183951,,57,1613698,0.00003532259443836455,1,0,sas,0.00047623000000000007,8.80,0.548,0.00,-0.0100,-0.0740,0.270,0.00100,0,75010,0,0,0,59994,0,0,0,29590,0,0,0,44868,0,0,0,63990,0,0,0,6060,0,0,0,1179826,0,0,0,912,0,0,55,90966,1,0,2,62482,0,0 +17-43045699-C-A,17,43045699,rs28897699,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1857His,p.Gln1857His,c.5571G>T,missense_variant,Uncertain significance,246518,,5,985202,0.000005075101349773955,0,0,nfe,0.0000017699999999999998,18.3,0.520,0.0100,-0.100,0.612,0.0900,0.0970,0,57212,0,0,0,16250,0,0,0,8624,0,0,0,8816,0,0,0,10878,0,0,0,1936,0,0,5,829920,0,0,0,912,0,0,0,21266,0,0,0,29388,0,0 +17-43045704-G-T,17,43045704,rs80357274,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1856Thr,p.Pro1856Thr,c.5566C>A,missense_variant,Conflicting interpretations of pathogenicity,409334,,3,1613814,0.0000018589502879513996,0,0,,,15.4,0.471,0.00,0.0200,0.638,0.120,0.137,0,75010,0,0,0,59994,0,0,0,29578,0,0,2,44866,0,0,0,64012,0,0,0,6062,0,0,1,1179852,0,0,0,912,0,0,0,91040,0,0,0,62488,0,0 +17-43045704-G-A,17,43045704,rs80357274,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1856Ser,p.Pro1856Ser,c.5566C>T,missense_variant,Likely benign,55632,,7,1461600,0.000004789272030651341,0,0,sas,0.000015830000000000003,15.3,0.433,0.00,0.0100,0.638,0.520,0.137,0,33474,0,0,1,44706,0,0,0,26106,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111838,0,0,,,,,4,86222,0,0,1,60380,0,0 +17-43045705-T-TAGG,17,43045705,,T,TAGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855_Pro1856insLeu,p.Ile1855_Pro1856insLeu,c.5564_5565insCCT,inframe_insertion,,,,1,628242,0.0000015917433091070002,0,0,,,17.5,,0.00,0.0700,-0.503,,,0,17684,0,0,0,43698,0,0,0,20942,0,0,0,36066,0,0,0,53116,0,0,0,4126,0,0,1,349822,0,0,,,,,0,69722,0,0,0,33066,0,0 +17-43045705-T-A,17,43045705,rs758449088,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855Ile,p.Ile1855Ile,c.5565A>T,synonymous_variant,not provided,869060,,1,628242,0.0000015917433091070002,0,0,,,5.26,,0.00,0.0100,-0.503,,,0,17684,0,0,0,43698,0,0,0,20942,0,0,0,36066,0,0,0,53116,0,0,0,4126,0,0,0,349822,0,0,,,,,1,69722,0,0,0,33066,0,0 +17-43045707-T-TCC,17,43045707,,T,TCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1855GlyfsTer68,p.Ile1855GlyfsTer68,c.5562_5563insGG,frameshift_variant,,,,1,628496,0.0000015911000229118403,0,0,,,27.6,,0.00,0.160,0.267,,,0,17690,0,0,0,43718,0,0,0,20956,0,0,0,36066,0,0,0,53138,0,0,0,4144,0,0,1,349944,0,0,,,,,0,69766,0,0,0,33074,0,0 +17-43045708-C-T,17,43045708,rs786201648,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1854Leu,p.Leu1854Leu,c.5562G>A,synonymous_variant,Likely benign,184730,,1,628432,0.0000015912620617664283,0,0,,,8.52,,0.00,-0.0800,4.23,,,0,17690,0,0,1,43716,0,0,0,20944,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,349908,0,0,,,,,0,69754,0,0,0,33068,0,0 +17-43045708-C-G,17,43045708,rs786201648,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1854Leu,p.Leu1854Leu,c.5562G>C,synonymous_variant,not provided,868674,,1,628432,0.0000015912620617664283,0,0,,,7.57,,0.00,-0.0300,4.23,,,1,17690,0,0,0,43716,0,0,0,20944,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,349908,0,0,,,,,0,69754,0,0,0,33068,0,0 +17-43045711-G-GT,17,43045711,rs80357629,G,GT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1853Ter,p.Tyr1853Ter,c.5558dup,stop_gained,Pathogenic,55628,,2,780652,0.0000025619610274488503,0,0,,,35.0,,0.00,-0.0900,4.97,,,0,59106,0,0,0,58976,0,0,0,24422,0,0,0,41256,0,0,0,63748,0,0,0,4464,0,0,2,418000,0,0,0,912,0,0,0,74604,0,0,0,35164,0,0 +17-43045712-T-C,17,43045712,rs80357258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1853Cys,p.Tyr1853Cys,c.5558A>G,missense_variant,Pathogenic/Likely pathogenic,55627,,1,628542,0.0000015909835778675093,0,0,,,28.8,0.836,0.00,-0.0200,6.36,0.00,0.999,0,17690,0,0,0,43720,0,0,0,20962,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,1,349972,0,0,,,,,0,69764,0,0,0,33078,0,0 +17-43045714-G-C,17,43045714,rs80356841,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1852Thr,p.Thr1852Thr,c.5556C>G,synonymous_variant,Likely benign,55626,,1,152108,0.000006574276172193441,0,0,,,9.74,,0.00,0.0100,1.90,,,0,41422,0,0,0,15258,0,0,0,3472,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4824,0,0,0,2080,0,0 +17-43045716-T-C,17,43045716,rs1555574370,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1852Ala,p.Thr1852Ala,c.5554A>G,missense_variant,Uncertain significance,441287,,1,628580,0.000001590887396990041,0,0,,,15.3,0.464,0.00,0.0500,-1.17,0.710,0.00,0,17692,0,0,0,43722,0,0,0,20954,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,1,350006,0,0,,,,,0,69772,0,0,0,33078,0,0 +17-43045720-C-G,17,43045720,rs786201502,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1850Leu,p.Leu1850Leu,c.5550G>C,synonymous_variant,Likely benign,184500,,38,1461686,0.00002599737563334396,0,0,nfe,0.0000237,9.49,,0.00,0.0200,2.47,,,0,33478,0,0,0,44708,0,0,0,26102,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,36,1111924,0,0,,,,,0,86208,0,0,2,60382,0,0 +17-43045723-C-A,17,43045723,rs1426388214,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1849Asp,p.Glu1849Asp,c.5547G>T,missense_variant,not provided,865003,,1,628618,0.0000015907912277408537,0,0,,,16.3,0.546,0.00,0.0100,0.851,0.160,0.00300,0,17692,0,0,0,43732,0,0,0,20948,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350040,0,0,,,,,0,69758,0,0,0,33090,0,0 +17-43045723-C-T,17,43045723,rs1426388214,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1849Glu,p.Glu1849Glu,c.5547G>A,synonymous_variant,Likely benign,482953,,2,628618,0.0000031815824554817074,0,0,,,8.08,,0.00,0.0100,0.851,,,0,17692,0,0,0,43732,0,0,0,20948,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350040,0,0,,,,,1,69758,0,0,0,33090,0,0 +17-43045726-C-A,17,43045726,rs2050865178,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1848His,p.Gln1848His,c.5544G>T,missense_variant,not provided,869027,,1,628670,0.0000015906596465554266,0,0,,,24.9,0.682,0.00,-0.0300,5.95,0.00,0.955,0,17690,0,0,0,43732,0,0,0,20968,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350070,0,0,,,,,1,69764,0,0,0,33086,0,0 +17-43045729-G-A,17,43045729,rs397509295,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1847Cys,p.Cys1847Cys,c.5541C>T,synonymous_variant,Likely benign,415547,,1,628656,0.0000015906950701178388,0,0,,,12.1,,0.00,-0.0400,2.35,,,0,17688,0,0,0,43722,0,0,0,20964,0,0,0,36070,0,0,0,53142,0,0,1,4148,0,0,0,350070,0,0,,,,,0,69764,0,0,0,33088,0,0 +17-43045730-C-T,17,43045730,rs1182000313,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1847Tyr,p.Cys1847Tyr,c.5540G>A,missense_variant,Conflicting interpretations of pathogenicity,867638,,1,628620,0.0000015907861665234959,0,0,,,23.8,0.756,0.00,0.0400,4.95,0.230,0.645,0,17692,0,0,0,43724,0,0,0,20964,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350024,0,0,,,,,1,69770,0,0,0,33086,0,0 +17-43045730-C-CCAGTGCCAGGACAGCAGG,17,43045730,rs1555574380,C,CCAGTGCCAGGACAGCAGG,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1847delinsSerCysCysProGlyThrGly,p.Cys1847delinsSerCysCysProGlyThrGly,c.5539_5540insCCTGCTGTCCTGGCACTG,protein_altering_variant,,,,1,152102,0.000006574535509066285,0,0,,,33.0,,0.00,-0.0400,4.95,,,0,41414,0,0,0,15264,0,0,0,3470,0,0,0,5188,0,0,0,10606,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4818,0,0,0,2088,0,0 +17-43045730-C-A,17,43045730,rs1182000313,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1847Phe,p.Cys1847Phe,c.5540G>T,missense_variant,Conflicting interpretations of pathogenicity,582037,,1,152102,0.000006574535509066285,0,0,,,24.0,0.745,0.00,0.0400,4.95,,,0,41414,0,0,0,15264,0,0,0,3470,0,0,0,5188,0,0,0,10606,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4818,0,0,0,2088,0,0 +17-43045732-C-G,17,43045732,rs80356849,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1846His,p.Gln1846His,c.5538G>C,missense_variant,Conflicting interpretations of pathogenicity,482930,,3,1613844,0.0000018589157316320538,0,0,afr,0.00001064,23.6,0.645,0.00,0.0100,0.350,0.00,0.799,3,74876,0,0,0,59968,0,0,0,29594,0,0,0,44882,0,0,0,64018,0,0,0,6084,0,0,0,1179990,0,0,0,912,0,0,0,91048,0,0,0,62472,0,0 +17-43045732-C-T,17,43045732,rs80356849,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1846Gln,p.Gln1846Gln,c.5538G>A,synonymous_variant,Likely benign,55621,,2,1461786,0.000001368189324565976,0,0,,,8.37,,0.00,-0.0200,0.350,,,0,33476,0,0,0,44714,0,0,0,26122,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86228,0,0,1,60388,0,0 +17-43045732-CTGGT-C,17,43045732,rs1555574381,CTGGT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1845CysfsTer9,p.Tyr1845CysfsTer9,c.5534_5537del,frameshift_variant,,,,1,152058,0.000006576437938155178,0,0,,,33.0,,0.00,-0.280,0.350,,,0,41400,0,0,0,15254,0,0,0,3472,0,0,0,5182,0,0,0,10602,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2084,0,0 +17-43045734-G-T,17,43045734,rs80356873,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1846Lys,p.Gln1846Lys,c.5536C>A,missense_variant,Uncertain significance,825811,,2,780732,0.0000025616985085791283,0,0,,,23.0,0.578,0.00,0.0200,2.78,0.0100,0.0550,0,59068,0,0,0,58972,0,0,0,24440,0,0,0,41260,0,0,0,63738,0,0,0,4464,0,0,2,418102,0,0,0,912,0,0,0,74594,0,0,0,35182,0,0 +17-43045739-A-G,17,43045739,rs80357323,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1844Pro,p.Leu1844Pro,c.5531T>C,missense_variant,Conflicting interpretations of pathogenicity,419732,,3,1461658,0.0000020524637090208516,0,0,nfe,2.999999999999999e-7,26.7,0.709,0.00,0.00,3.71,0.0100,0.970,0,33474,0,0,0,44666,0,0,0,26116,0,0,0,39700,0,0,0,53416,0,0,0,5766,0,0,2,1111950,0,0,,,,,0,86186,0,0,1,60384,0,0 +17-43045739-A-C,17,43045739,rs80357323,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1844Arg,p.Leu1844Arg,c.5531T>G,missense_variant,Benign,55615,,15,1613724,0.000009295269823092424,0,0,afr,0.00000443,26.3,0.692,0.00,0.0400,3.71,0.00,0.935,2,74876,0,0,0,59930,0,0,7,29588,0,0,0,44884,0,0,0,64010,0,0,0,6082,0,0,5,1179962,0,0,0,912,0,0,0,91008,0,0,1,62472,0,0 +17-43045739-A-T,17,43045739,rs80357323,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1844His,p.Leu1844His,c.5531T>A,missense_variant,not provided,868627,,1,1461658,6.841545696736172e-7,0,0,,,26.1,0.638,0.00,-0.0100,3.71,0.00,0.955,0,33474,0,0,0,44666,0,0,0,26116,0,0,0,39700,0,0,0,53416,0,0,0,5766,0,0,1,1111950,0,0,,,,,0,86186,0,0,0,60384,0,0 +17-43045740-G-T,17,43045740,rs1471435242,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1844Ile,p.Leu1844Ile,c.5530C>A,missense_variant,Conflicting interpretations of pathogenicity,482889,,4,152092,0.00002629987113063146,0,0,afr,0.00003252,24.0,0.498,0.00,0.0100,3.48,0.0500,0.534,4,41398,0,0,0,15262,0,0,0,3472,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4814,0,0,0,2092,0,0 +17-43045741-T-G,17,43045741,rs1160863525,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1843Ala,p.Ala1843Ala,c.5529A>C,synonymous_variant,Likely benign,482890,,4,151846,0.000026342478563808068,0,0,afr,0.000032569999999999995,10.7,,0.00,0.0300,3.33,,,4,41310,0,0,0,15242,0,0,0,3468,0,0,0,5168,0,0,0,10546,0,0,0,316,0,0,0,67982,0,0,0,910,0,0,0,4818,0,0,0,2086,0,0 +17-43045742-G-A,17,43045742,rs730881447,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1843Val,p.Ala1843Val,c.5528C>T,missense_variant,Conflicting interpretations of pathogenicity,496396,,4,780842,0.0000051226752659308795,0,0,afr,0.00001348,26.0,0.679,0.00,0.0100,5.85,0.00,0.0900,3,59084,0,0,1,58998,0,0,0,24450,0,0,0,41262,0,0,0,63740,0,0,0,4462,0,0,0,418128,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 +17-43045743-C-G,17,43045743,rs80357019,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1843Pro,p.Ala1843Pro,c.5527G>C,missense_variant,Likely pathogenic,55614,,1,1461840,6.840693919991244e-7,0,0,,,25.1,0.704,0.00,0.0500,3.95,0.00,0.877,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,0,1111986,0,0,,,,,1,86248,0,0,0,60394,0,0 +17-43045743-C-A,17,43045743,rs80357019,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1843Ser,p.Ala1843Ser,c.5527G>T,missense_variant,not provided,867626,,1,1461840,6.840693919991244e-7,0,0,,,22.9,0.595,0.00,0.0400,3.95,0.160,0.230,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86248,0,0,0,60394,0,0 +17-43045748-C-T,17,43045748,rs80357368,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Asn,p.Ser1841Asn,c.5522G>A,missense_variant,Conflicting interpretations of pathogenicity,55613,,1,628754,0.0000015904471383084641,0,0,,,25.2,0.626,0.00,0.0400,8.90,0.00,0.995,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69798,0,0,0,33090,0,0 +17-43045748-C-G,17,43045748,rs80357368,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Thr,p.Ser1841Thr,c.5522G>C,missense_variant,Conflicting interpretations of pathogenicity,423044,,1,628754,0.0000015904471383084641,0,0,,,25.0,0.700,0.00,0.0300,8.90,0.00,0.992,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33090,0,0 +17-43045749-T-C,17,43045749,rs80357299,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1841Gly,p.Ser1841Gly,c.5521A>G,missense_variant,Uncertain significance,825803,,3,833102,0.0000036009996374993697,0,0,nfe,0.00000105,26.5,0.774,0.00,0.0600,6.36,0.00,0.997,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045751-T-C,17,43045751,rs2050874260,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1840Gly,p.Asp1840Gly,c.5519A>G,missense_variant,not provided,868612,,1,628776,0.0000015903914907693677,0,0,,,29.8,0.821,0.00,-0.0700,6.36,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43045752-C-T,17,43045752,rs1567756588,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1840Asn,p.Asp1840Asn,c.5518G>A,missense_variant,Uncertain significance,580534,,2,628768,0.0000031808234515751436,0,0,sas,0.00000475,26.9,0.694,0.00,-0.0100,8.90,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4146,0,0,0,350100,0,0,,,,,2,69798,0,0,0,33096,0,0 +17-43045756-C-T,17,43045756,rs786201248,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1838Val,p.Val1838Val,c.5514G>A,synonymous_variant,not provided,864954,,1,1461878,6.840516103258959e-7,0,0,,,1.94,,0.00,-0.0200,-0.427,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,0,1112006,0,0,,,,,1,86258,0,0,0,60394,0,0 +17-43045756-C-A,17,43045756,rs786201248,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1838Val,p.Val1838Val,c.5514G>T,synonymous_variant,Likely benign,184051,,3,1461878,0.0000020521548309776876,0,0,nfe,2.999999999999999e-7,1.50,,0.00,-0.0200,-0.427,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86258,0,0,1,60394,0,0 +17-43045758-C-T,17,43045758,rs730881501,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1838Met,p.Val1838Met,c.5512G>A,missense_variant,Conflicting interpretations of pathogenicity,182173,,1,152088,0.000006575140708011152,0,0,,,25.6,0.627,0.00,0.0800,7.13,0.00,0.996,0,41396,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10586,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43045758-C-A,17,43045758,rs730881501,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1838Leu,p.Val1838Leu,c.5512G>T,missense_variant,Uncertain significance,184981,,1,152088,0.000006575140708011152,0,0,,,25.1,0.594,0.00,0.0300,7.13,0.00,0.830,1,41396,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10586,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43045759-C-G,17,43045759,rs80356914,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1837Cys,p.Trp1837Cys,c.5511G>C,missense_variant,Pathogenic/Likely pathogenic,421244,,1,628772,0.0000015904016082141062,0,0,,,28.1,0.862,0.00,0.0700,7.14,0.00,1.00,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43045761-A-G,17,43045761,rs80356959,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1837Arg,p.Trp1837Arg,c.5509T>C,missense_variant,Pathogenic,37679,,1,628780,0.0000015903813734533542,0,0,,,28.7,0.900,0.00,0.0600,6.33,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33096,0,0 +17-43045764-C-T,17,43045764,rs80356942,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1836Lys,p.Glu1836Lys,c.5506G>A,missense_variant,Uncertain significance,55605,,3,628780,0.000004771144120360063,0,0,nfe,9.5e-7,26.3,0.577,0.00,0.0100,8.90,0.00,0.971,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43045765-T-G,17,43045765,rs2050879074,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Arg,p.Arg1835Arg,c.5505A>C,synonymous_variant,not provided,867607,,1,628776,0.0000015903914907693677,0,0,,,9.95,,0.00,0.0300,1.59,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43045766-C-T,17,43045766,rs273902776,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1835Gln,p.Arg1835Gln,c.5504G>A,missense_variant,Conflicting interpretations of pathogenicity,55604,,22,1613968,0.000013631001358143407,0,0,afr,0.00001747,26.7,0.503,0.00,-0.0300,7.14,0.0100,0.992,4,74886,0,0,0,59978,0,0,3,29608,0,0,1,44898,0,0,2,64000,0,0,0,6084,0,0,8,1180028,0,0,0,912,0,0,4,91086,0,0,0,62488,0,0 +17-43045766-C-G,17,43045766,rs273902776,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Pro,p.Arg1835Pro,c.5504G>C,missense_variant,Uncertain significance,182172,,3,1461886,0.0000020521436008006096,0,0,nfe,7.200000000000001e-7,27.1,0.480,0.00,-0.0500,7.14,0.0200,0.998,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43045767-G-A,17,43045767,rs41293465,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1835Ter,p.Arg1835Ter,c.5503C>T,stop_gained,Pathogenic,55601,,20,1461874,0.000013681069640748792,0,0,sas,0.00000924,37.0,,0.0200,-0.200,1.62,,,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,16,1111998,0,0,,,,,3,86258,0,0,0,60396,0,0 +17-43045773-C-A,17,43045773,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1833Leu,p.Val1833Leu,c.5497G>T,missense_variant,Uncertain significance,2565337,,1,1461892,6.840450594161539e-7,0,0,,,24.6,0.771,0.00,-0.0200,8.90,0.00,0.988,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43045773-C-T,17,43045773,rs80357268,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1833Met,p.Val1833Met,c.5497G>A,missense_variant,Pathogenic/Likely pathogenic,55598,,1,1461892,6.840450594161539e-7,0,0,,,25.2,0.750,0.00,0.0200,8.90,0.00,0.999,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43045775-A-G,17,43045775,rs749290001,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1832Ala,p.Val1832Ala,c.5495T>C,missense_variant,not provided,868593,,1,628784,0.0000015903712562660628,0,0,,,25.1,0.672,0.00,0.0300,6.33,0.00,0.740,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43045777-A-G,17,43045777,rs2050882264,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Pro,p.Pro1831Pro,c.5493T>C,synonymous_variant,Likely benign,867599,,1,833108,0.0000012003245677631232,0,0,,,4.22,,0.00,0.0200,-1.86,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045778-G-C,17,43045778,rs587782778,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Arg,p.Pro1831Arg,c.5492C>G,missense_variant,Conflicting interpretations of pathogenicity,142865,,9,833108,0.000010802921109868109,0,0,nfe,0.00000452,11.9,0.517,0.00,-0.0100,0.926,0.140,0.423,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,8,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43045779-G-T,17,43045779,rs768239314,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1831Thr,p.Pro1831Thr,c.5491C>A,missense_variant,not provided,864938,,1,628782,0.0000015903763148436182,0,0,,,12.5,0.531,0.00,-0.0100,1.21,0.410,0.762,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045781-G-T,17,43045781,rs2050883748,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1830Glu,p.Ala1830Glu,c.5489C>A,missense_variant,not provided,864932,,1,628776,0.0000015903914907693677,0,0,,,22.3,0.507,0.00,0.0300,0.379,0.00,0.956,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045782-C-T,17,43045782,rs80357393,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1830Thr,p.Ala1830Thr,c.5488G>A,missense_variant,Conflicting interpretations of pathogenicity,55594,,2,1461890,0.0000013680919905054415,0,0,nfe,2.999999999999999e-7,23.1,0.490,0.00,0.0300,5.05,0.00,0.787,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43045784-T-TC,17,43045784,rs768401297,T,TC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1829GlyfsTer51,p.Glu1829GlyfsTer51,c.5485dup,frameshift_variant,Pathogenic,254471,,1,628754,0.0000015904471383084641,0,0,,,29.2,,0.00,0.0200,0.994,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69798,0,0,0,33094,0,0 +17-43045785-C-T,17,43045785,rs869320789,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1829Lys,p.Glu1829Lys,c.5485G>A,missense_variant,Uncertain significance,225731,,1,628780,0.0000015903813734533542,0,0,,,16.9,0.407,0.00,-0.0300,1.61,0.210,0.0150,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045787-C-T,17,43045787,rs2050885374,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1828Tyr,p.Cys1828Tyr,c.5483G>A,missense_variant,not provided,867590,,1,628782,0.0000015903763148436182,0,0,,,24.7,0.560,0.00,0.0300,7.06,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045788-A-C,17,43045788,rs1060502342,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1828Gly,p.Cys1828Gly,c.5482T>G,missense_variant,Conflicting interpretations of pathogenicity,409329,,1,833110,0.0000012003216862119048,0,0,,,23.2,0.693,0.00,-0.0400,0.472,0.0400,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045789-C-T,17,43045789,rs587782432,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1827Ile,p.Met1827Ile,c.5481G>A,missense_variant,Conflicting interpretations of pathogenicity,142395,,33,1614052,0.0000204454379412807,0,0,nfe,0.00001803,22.9,0.454,0.00,-0.0200,2.98,0.130,0.00600,3,74912,0,0,0,60000,0,0,0,29608,0,0,0,44896,0,0,0,64026,0,0,0,6084,0,0,30,1180038,0,0,0,912,0,0,0,91090,0,0,0,62486,0,0 +17-43045791-T-C,17,43045791,rs771606902,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1827Val,p.Met1827Val,c.5479A>G,missense_variant,Uncertain significance,844324,,4,1461892,0.0000027361802376646154,0,0,sas,0.00000924,16.3,0.456,0.0100,-0.0500,-0.140,0.160,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,3,86258,0,0,0,60396,0,0 +17-43045792-C-A,17,43045792,rs80357332,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1826His,p.Gln1826His,c.5478G>T,missense_variant,Uncertain significance,55592,,1,628784,0.0000015903712562660628,0,0,,,24.2,0.533,0.00,-0.0500,3.01,0.00,0.152,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045793-T-A,17,43045793,rs730881499,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1826Leu,p.Gln1826Leu,c.5477A>T,missense_variant,Conflicting interpretations of pathogenicity,182170,,22,780910,0.000028172260567799106,0,0,,,24.4,0.493,0.00,0.0100,3.75,0.0600,0.0990,0,59122,0,0,0,59004,0,0,0,24456,0,0,0,41268,0,0,20,63748,0,0,0,4464,0,0,0,418122,0,0,0,912,0,0,0,74624,0,0,2,35190,0,0 +17-43045795-C-A,17,43045795,rs1057520941,C,A,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Ala697Ser,p.Ala697Ser,c.2089G>T,missense_variant,Likely benign,383141,,1,628782,0.0000015903763148436182,0,0,,,3.74,,0.00,0.0100,0.188,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045796-C-G,17,43045796,rs2050888423,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1825Ala,p.Gly1825Ala,c.5474G>C,missense_variant,not provided,868570,,1,833106,0.0000012003274493281767,0,0,,,18.7,0.413,0.00,0.0400,1.34,0.0200,0.720,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045797-C-T,17,43045797,rs398122700,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp696Ter,p.Trp696Ter,c.2087G>A,stop_gained,Uncertain significance,91654,lof_flag,1,628172,0.0000015919206841438332,0,0,,,23.6,0.548,0.0500,-0.110,1.62,0.0100,0.703,0,17678,0,0,0,43724,0,0,0,20950,0,0,0,36030,0,0,0,53046,0,0,0,4146,0,0,0,349762,0,0,,,,,1,69796,0,0,0,33040,0,0 +17-43045799-A-G,17,43045799,rs1301025671,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1824Thr,p.Ile1824Thr,c.5471T>C,missense_variant,Uncertain significance,867578,,5,984958,0.000005076358585848331,0,0,nfe,0.0000017699999999999998,24.4,0.558,0.00,0.0100,2.34,0.00,0.955,0,57142,0,0,0,16228,0,0,0,8620,0,0,0,8772,0,0,0,10860,0,0,0,1936,0,0,5,829870,0,0,0,912,0,0,0,21232,0,0,0,29386,0,0 +17-43045800-T-C,17,43045800,rs587782026,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1824Val,p.Ile1824Val,c.5470A>G,missense_variant,Conflicting interpretations of pathogenicity,141804,,2,628780,0.0000031807627469067084,0,0,amr,0.000007580000000000001,25.3,0.527,0.920,0.710,3.06,0.00,0.542,0,17694,0,0,2,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43045802-G-A,17,43045802,rs765681061,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1823Val,p.Ala1823Val,c.5468C>T,missense_variant,not provided,864911,,1,628774,0.0000015903965494756462,0,0,,,14.3,0.451,0.00,-0.0400,0.595,0.180,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045803-C-A,17,43045803,rs80358048,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-1G>T,,c.5468-1G>T,splice_acceptor_variant,not provided,864908,,1,628762,0.0000015904269023891392,0,0,,,34.0,,1.00,-0.820,8.90,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43045806-G-A,17,43045806,rs763484977,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-4C>T,,c.5468-4C>T,splice_region_variant,Uncertain significance,868959,,8,1461794,0.000005472727347355373,1,0,sas,0.000045779999999999985,9.23,,0.00,-0.0100,1.73,,,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,0,1111970,0,0,,,,,8,86258,1,0,0,60390,0,0 +17-43045806-G-T,17,43045806,rs763484977,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-4C>A,,c.5468-4C>A,splice_region_variant,Benign/Likely benign,825757,,1,152152,0.000006572374993427625,0,0,,,8.64,,0.00,0.0500,1.73,,,1,41426,0,0,0,15270,0,0,0,3468,0,0,0,5206,0,0,0,10604,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 +17-43045808-G-A,17,43045808,rs2050891161,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-6C>T,,c.5468-6C>T,splice_region_variant,not provided,868557,,1,628520,0.0000015910392668491059,0,0,,,8.11,,0.00,0.0500,2.86,,,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36066,0,0,0,53056,0,0,0,4148,0,0,1,349978,0,0,,,,,0,69796,0,0,0,33084,0,0 +17-43045810-C-CA,17,43045810,rs761414277,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-9dup,,c.5468-9dup,intron_variant,,,,1,628640,0.0000015907355561211504,0,0,,,18.5,,0.0100,0.0200,0.721,,,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53120,0,0,0,4148,0,0,0,350010,0,0,,,,,1,69796,0,0,0,33094,0,0 +17-43045810-CAGAG-C,17,43045810,,CAGAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-12_5468-9del,,c.5468-12_5468-9del,intron_variant,,,,1,628640,0.0000015907355561211504,0,0,,,19.2,,0.0100,-0.120,0.721,,,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53120,0,0,0,4148,0,0,1,350010,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43045810-CAG-C,17,43045810,rs273902770,CAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-10_5468-9del,,c.5468-10_5468-9del,intron_variant,Benign/Likely benign,91652,,24,780704,0.00003074148460876337,0,0,amr,0.00023786999999999997,17.9,,0.00,-0.0100,0.721,,,0,59086,0,0,21,58998,0,0,0,24446,0,0,0,41266,0,0,0,63686,0,0,0,4464,0,0,0,418040,0,0,0,912,0,0,0,74626,0,0,3,35180,0,0 +17-43045811-A-C,17,43045811,rs2050891633,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-9T>G,,c.5468-9T>G,intron_variant,not provided,867562,,1,628718,0.000001590538206318254,0,0,,,23.5,,0.0100,-0.120,2.25,,,0,17694,0,0,0,43700,0,0,0,20982,0,0,0,36070,0,0,0,53136,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33090,0,0 +17-43045812-G-T,17,43045812,rs8176316,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-10C>A,,c.5468-10C>A,intron_variant,Benign,55589,,1268,1613766,0.000785739692123889,11,0,afr,0.01338558,15.3,,0.00,-0.0600,0.0470,,,1057,75012,9,0,95,59966,0,0,0,29594,0,0,0,44882,0,0,0,63934,0,0,9,6060,0,0,26,1179850,0,0,0,910,0,0,5,91074,0,0,76,62484,2,0 +17-43045812-G-C,17,43045812,rs8176316,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-10C>G,,c.5468-10C>G,intron_variant,not provided,864904,,1,1461508,6.842247870008238e-7,0,0,,,14.6,,0.00,-0.0500,0.0470,,,0,33474,0,0,0,44670,0,0,0,26128,0,0,0,39690,0,0,0,53342,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86250,0,0,0,60368,0,0 +17-43045814-G-A,17,43045814,rs751653743,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-12C>T,,c.5468-12C>T,intron_variant,Likely benign,1701810,,1,624772,0.000001600583893004168,0,0,,,17.0,,0.00,0.0300,2.04,,,0,17600,0,0,1,43594,0,0,0,20856,0,0,0,35884,0,0,0,52200,0,0,0,4120,0,0,0,347902,0,0,,,,,0,69758,0,0,0,32858,0,0 +17-43045815-A-G,17,43045815,rs2050892192,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-13T>C,,c.5468-13T>C,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,19.3,,0.00,-0.0600,2.38,,,1,41436,0,0,0,15282,0,0,0,3472,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43045816-A-G,17,43045816,rs1455009930,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-14T>C,,c.5468-14T>C,intron_variant,Likely benign,1109038,,2,1461884,0.0000013680976055555708,0,0,nfe,2.999999999999999e-7,19.0,,0.00,-0.0600,2.31,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,2,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43045817-C-T,17,43045817,rs2050892449,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-15G>A,,c.5468-15G>A,intron_variant,Likely benign,1154182,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,17.7,,0.00,-0.0100,2.91,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045819-C-T,17,43045819,rs80358176,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-17G>A,,c.5468-17G>A,intron_variant,Conflicting interpretations of pathogenicity,125854,,1,833100,0.0000012003360941063497,0,0,,,15.2,,0.00,0.00,1.32,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43045822-G-A,17,43045822,rs1313891279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-20C>T,,c.5468-20C>T,intron_variant,Conflicting interpretations of pathogenicity,629547,,2,1461852,0.0000013681275532680463,0,0,,,12.0,,0.00,0.0300,0.906,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53400,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86258,0,0,1,60392,0,0 +17-43045827-G-A,17,43045827,rs868769664,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-25C>T,,c.5468-25C>T,intron_variant,,,,3,748682,0.0000040070417079614575,0,0,nfe,0.0000020000000000000003,14.2,,0.00,0.0100,1.39,,,0,58004,0,0,0,58046,0,0,0,23174,0,0,0,38928,0,0,0,59088,0,0,0,4262,0,0,3,399074,0,0,0,908,0,0,0,74220,0,0,0,32978,0,0 +17-43045829-T-C,17,43045829,rs2152615672,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-27A>G,,c.5468-27A>G,intron_variant,,,,2,628738,0.000003180975223383985,0,0,,,20.9,,0.0400,-0.110,1.83,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,2,53106,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43045830-T-A,17,43045830,rs1307223280,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-28A>T,,c.5468-28A>T,intron_variant,,,,1,152188,0.000006570820301206403,0,0,,,13.8,,0.00,-0.0300,-0.0510,,,0,41454,0,0,1,15274,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4836,0,0,0,2094,0,0 +17-43045830-T-G,17,43045830,rs1307223280,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-28A>C,,c.5468-28A>C,intron_variant,,,,1,152188,0.000006570820301206403,0,0,,,14.1,,0.00,-0.0500,-0.0510,,,0,41454,0,0,0,15274,0,0,0,3470,0,0,1,5200,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4836,0,0,0,2094,0,0 +17-43045831-A-G,17,43045831,rs2152616630,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-29T>C,,c.5468-29T>C,intron_variant,,,,2,591798,0.000003379531529339403,0,0,,,22.0,,0.0100,-0.0900,2.92,,,0,16290,0,0,0,42596,0,0,0,19290,0,0,0,32928,0,0,2,49984,0,0,0,3896,0,0,0,327048,0,0,,,,,0,69426,0,0,0,30340,0,0 +17-43045832-G-C,17,43045832,rs757415688,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-30C>G,,c.5468-30C>G,intron_variant,,,,16,780008,0.00002051261012707562,0,0,amr,0.00015612999999999998,18.2,,0.00,-0.0500,1.64,,,0,59096,0,0,15,58984,0,0,0,24428,0,0,0,41226,0,0,0,63476,0,0,0,4458,0,0,1,417664,0,0,0,910,0,0,0,74622,0,0,0,35144,0,0 +17-43045833-T-C,17,43045833,rs2152617455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-31A>G,,c.5468-31A>G,intron_variant,,,,1,628702,0.0000015905786843369356,0,0,,,18.9,,0.00,-0.0100,0.939,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53082,0,0,0,4148,0,0,0,350090,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43045836-C-T,17,43045836,rs1348368111,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-34G>A,,c.5468-34G>A,intron_variant,,,,19,1563582,0.00001215158527023207,0,0,nfe,0.00001057,17.9,,0.00,0.0100,0.903,,,0,73110,0,0,0,58392,0,0,0,27540,0,0,0,41132,0,0,0,58218,0,0,0,5792,0,0,19,1149118,0,0,0,906,0,0,0,90438,0,0,0,58936,0,0 +17-43045842-A-T,17,43045842,rs80358151,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-40T>A,,c.5468-40T>A,intron_variant,Pathogenic,125857,,13,1457384,0.000008920092439604112,0,0,nfe,0.00000654,9.76,,0.00,-0.0100,0.262,,,0,33328,0,0,0,44622,0,0,0,25964,0,0,0,39364,0,0,0,52604,0,0,0,5732,0,0,13,1109488,0,0,,,,,0,86204,0,0,0,60078,0,0 +17-43045842-A-G,17,43045842,rs80358151,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-40T>C,,c.5468-40T>C,intron_variant,,,,4,1457386,0.000002744640061040795,0,0,sas,0.000015830000000000003,9.93,,0.00,-0.0100,0.262,,,0,33328,0,0,0,44622,0,0,0,25964,0,0,0,39364,0,0,0,52604,0,0,0,5732,0,0,0,1109490,0,0,,,,,4,86204,0,0,0,60078,0,0 +17-43045843-T-C,17,43045843,rs1003493421,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-41A>G,,c.5468-41A>G,intron_variant,,,,17,1613776,0.00001053429967975729,0,0,afr,0.00013306999999999997,13.8,,0.00,0.00,0.758,,,16,74892,0,0,0,60000,0,0,0,29608,0,0,0,44898,0,0,0,63866,0,0,1,6084,0,0,0,1179958,0,0,0,910,0,0,0,91074,0,0,0,62486,0,0 +17-43045847-C-G,17,43045847,rs781271325,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-45G>C,,c.5468-45G>C,intron_variant,,,,7,780690,0.000008966427134970346,0,0,amr,0.000022810000000000004,5.25,,0.00,0.0100,0.116,,,0,59116,0,0,4,59008,0,0,0,24450,0,0,0,41268,0,0,0,63542,0,0,0,4464,0,0,2,418120,0,0,0,910,0,0,0,74624,0,0,1,35188,0,0 +17-43045849-T-C,17,43045849,rs750701163,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-47A>G,,c.5468-47A>G,intron_variant,,,,1,628098,0.0000015921082378864444,0,0,,,6.44,,0.00,0.0100,0.818,,,0,17684,0,0,1,43726,0,0,0,20972,0,0,0,36042,0,0,0,52776,0,0,0,4142,0,0,0,349902,0,0,,,,,0,69786,0,0,0,33068,0,0 +17-43045850-G-A,17,43045850,rs755843861,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-48C>T,,c.5468-48C>T,intron_variant,,,,1,628392,0.0000015913633528116208,0,0,,,8.60,,0.00,0.00,0.258,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,52818,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69784,0,0,0,33094,0,0 +17-43045851-G-A,17,43045851,rs1597797362,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-49C>T,,c.5468-49C>T,intron_variant,Likely benign,803402,,1,1459764,6.850422397045002e-7,0,0,,,9.07,,0.00,0.00,1.81,,,0,33434,0,0,0,44692,0,0,0,26102,0,0,0,39642,0,0,0,52808,0,0,0,5756,0,0,1,1110810,0,0,,,,,0,86214,0,0,0,60306,0,0 +17-43045852-A-T,17,43045852,rs780019315,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-50T>A,,c.5468-50T>A,intron_variant,,,,1,628312,0.0000015915659735927374,0,0,,,7.22,,0.00,0.00,0.163,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,52768,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69788,0,0,0,33084,0,0 +17-43045854-T-G,17,43045854,rs749169255,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-52A>C,,c.5468-52A>C,intron_variant,,,,1,628292,0.0000015916166368503816,0,0,,,1.04,,0.00,0.0100,0.134,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36070,0,0,0,52732,0,0,0,4146,0,0,0,350056,0,0,,,,,1,69782,0,0,0,33094,0,0 +17-43045857-G-A,17,43045857,rs2152625527,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-55C>T,,c.5468-55C>T,intron_variant,,,,4,831648,0.000004809727192273655,0,0,nfe,0.0000012299999999999999,4.95,,0.00,0.00,0.529,,,0,15748,0,0,0,984,0,0,0,5140,0,0,0,3618,0,0,0,276,0,0,0,1618,0,0,4,760578,0,0,,,,,0,16424,0,0,0,27262,0,0 +17-43045858-C-T,17,43045858,rs2152625918,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-56G>A,,c.5468-56G>A,intron_variant,,,,2,1457372,0.0000013723332134828993,0,0,,,0.164,,0.00,0.00,-0.757,,,0,33372,0,0,0,44680,0,0,0,26064,0,0,0,39550,0,0,0,52736,0,0,0,5760,0,0,1,1108890,0,0,,,,,0,86074,0,0,1,60246,0,0 +17-43045860-C-G,17,43045860,rs1413685016,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5468-58G>C,,c.5468-58G>C,intron_variant,,,,1,151402,0.000006604932563638525,0,0,,,0.752,,0.00,0.0100,-0.111,,,1,41196,0,0,0,15218,0,0,0,3462,0,0,0,5126,0,0,0,10444,0,0,0,312,0,0,0,67912,0,0,0,908,0,0,0,4742,0,0,0,2082,0,0 +17-43045866-A-C,17,43045866,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-64T>G,,c.5468-64T>G,intron_variant,,,,1,627474,0.0000015936915314419403,0,0,,,10.1,,0.00,-0.0100,1.87,,,0,17690,0,0,0,43690,0,0,0,20972,0,0,0,36070,0,0,0,52114,0,0,0,4144,0,0,0,349982,0,0,,,,,1,69732,0,0,0,33080,0,0 +17-43045867-A-G,17,43045867,rs1466646808,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-65T>C,,c.5468-65T>C,intron_variant,,,,5,1596006,0.0000031328203026805665,0,0,nfe,8e-7,0.143,,0.00,-0.0100,-1.88,,,0,74490,0,0,0,59788,0,0,0,29302,0,0,0,44352,0,0,0,62128,0,0,0,6030,0,0,4,1166616,0,0,0,910,0,0,1,90632,0,0,0,61758,0,0 +17-43045869-C-T,17,43045869,rs1301247014,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-67G>A,,c.5468-67G>A,intron_variant,,,,32,1603884,0.000019951567569724494,0,0,eas,0.00022331999999999997,1.10,,0.00,0.00,0.291,,,0,74616,0,0,0,59872,0,0,0,29536,0,0,16,44836,0,0,0,62618,0,0,0,6054,0,0,10,1172516,0,0,0,910,0,0,6,90726,0,0,0,62200,0,0 +17-43045869-C-G,17,43045869,rs1301247014,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-67G>C,,c.5468-67G>C,intron_variant,,,,3,1451954,0.0000020661811600092014,0,0,,,0.867,,0.00,0.00,0.291,,,1,33264,0,0,0,44628,0,0,0,26066,0,0,0,39638,0,0,0,52098,0,0,0,5738,0,0,1,1104510,0,0,,,,,1,85902,0,0,0,60110,0,0 +17-43045870-G-A,17,43045870,rs959371199,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-68C>T,,c.5468-68C>T,intron_variant,,,,98,1601372,0.00006119752312392123,3,0,eas,0.00031335000000000005,0.441,,0.00,0.0100,-0.0510,,,2,74604,0,0,2,59890,0,0,0,29530,0,0,21,44838,1,0,0,62566,0,0,0,6058,0,0,3,1170188,0,0,0,910,0,0,0,90666,0,0,70,62122,2,0 +17-43045871-A-G,17,43045871,rs901576003,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5468-69T>C,,c.5468-69T>C,intron_variant,,,,26,1600318,0.000016246770954272837,0,0,nfe,0.000014659999999999999,8.59,,0.00,0.00,0.544,,,0,73962,0,0,1,59692,0,0,0,29510,0,0,0,44772,0,0,0,61864,0,0,0,6044,0,0,25,1170792,0,0,0,904,0,0,0,90650,0,0,0,62128,0,0 +17-43045871-A-C,17,43045871,rs901576003,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-69T>G,,c.5468-69T>G,intron_variant,,,,1,1449878,6.897132034557391e-7,0,0,,,8.36,,0.00,0.00,0.544,,,0,33214,0,0,0,44600,0,0,0,26044,0,0,0,39636,0,0,0,51722,0,0,0,5732,0,0,0,1103000,0,0,,,,,0,85880,0,0,1,60050,0,0 +17-43045872-CTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAA-C,17,43045872,,CTCCAGGGTCCTGGTTGTATGAGTTCTTAGGATTAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-105_5468-71del,,c.5468-105_5468-71del,intron_variant,,,,1,1447806,6.907002733791682e-7,0,0,,,6.89,,0.00,0.0100,-0.494,,,0,33176,0,0,0,44588,0,0,0,26020,0,0,0,39616,0,0,0,51822,0,0,0,5742,0,0,1,1100994,0,0,,,,,0,85848,0,0,0,60000,0,0 +17-43045874-C-T,17,43045874,rs2152629924,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-72G>A,,c.5468-72G>A,intron_variant,,,,1,821902,0.0000012166900676723015,0,0,,,6.50,,0.00,0.0100,0.768,,,0,15528,0,0,0,966,0,0,0,5068,0,0,0,3570,0,0,0,276,0,0,0,1608,0,0,1,751744,0,0,,,,,0,16196,0,0,0,26946,0,0 +17-43045876-A-C,17,43045876,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-74T>G,,c.5468-74T>G,intron_variant,,,,1,625496,0.0000015987312468824742,0,0,,,0.181,,0.00,0.00,-1.36,,,0,17644,0,0,0,43594,0,0,0,20916,0,0,0,36030,0,0,0,51266,0,0,0,4130,0,0,0,349322,0,0,,,,,0,69594,0,0,1,33000,0,0 +17-43045877-G-A,17,43045877,rs2152630808,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5468-75C>T,,c.5468-75C>T,intron_variant,,,,1,1446764,6.911977350832616e-7,0,0,,,1.81,,0.00,0.00,0.658,,,0,33152,0,0,0,44552,0,0,0,26004,0,0,0,39610,0,0,0,51512,0,0,0,5734,0,0,0,1100480,0,0,,,,,1,85776,0,0,0,59944,0,0 +17-43047569-C-G,17,43047569,rs2152751595,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+74G>C,,c.5467+74G>C,intron_variant,,,,1,1270500,7.870916961826053e-7,0,0,,,5.99,,0.00,0.00,0.287,,,0,29560,0,0,0,44468,0,0,0,24952,0,0,1,38844,0,0,0,53314,0,0,0,5432,0,0,0,937472,0,0,,,,,0,82406,0,0,0,54052,0,0 +17-43047570-A-T,17,43047570,rs2152751721,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+73T>A,,c.5467+73T>A,intron_variant,,,,1,648670,0.0000015416159218092405,0,0,,,11.0,,0.00,-0.0100,0.858,,,0,12014,0,0,0,750,0,0,0,3998,0,0,0,2804,0,0,0,230,0,0,0,1290,0,0,1,593580,0,0,,,,,0,12780,0,0,0,21224,0,0 +17-43047571-C-G,17,43047571,rs2050967951,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+72G>C,,c.5467+72G>C,intron_variant,,,,1,152142,0.000006572806982950139,0,0,,,4.91,,0.00,0.00,0.665,,,0,41418,0,0,1,15284,0,0,0,3470,0,0,0,5206,0,0,0,10590,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43047572-C-T,17,43047572,rs2152751987,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+71G>A,,c.5467+71G>A,intron_variant,,,,1,665610,0.000001502381274319797,0,0,,,0.275,,0.00,0.00,-0.472,,,0,12340,0,0,0,774,0,0,0,4132,0,0,0,2884,0,0,0,236,0,0,0,1332,0,0,1,609020,0,0,,,,,0,13106,0,0,0,21786,0,0 +17-43047574-G-A,17,43047574,rs1034688600,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>T,,c.5467+69C>T,intron_variant,,,,9,1326388,0.000006785344861382944,0,0,amr,0.00001786,8.96,,0.00,0.00,-0.0540,,,0,30744,0,0,3,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,2,5540,0,0,3,988378,0,0,,,,,1,83550,0,0,0,55938,0,0 +17-43047574-G-T,17,43047574,rs1034688600,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>A,,c.5467+69C>A,intron_variant,,,,14,1326388,0.000010554980895484579,0,0,afr,0.00012932999999999996,8.51,,0.00,0.00,-0.0540,,,8,30744,0,0,0,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,0,5540,0,0,0,988378,0,0,,,,,0,83550,0,0,6,55938,0,0 +17-43047574-G-C,17,43047574,rs1034688600,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+69C>G,,c.5467+69C>G,intron_variant,,,,1,1326388,7.539272068203271e-7,0,0,,,8.62,,0.00,0.00,-0.0540,,,0,30744,0,0,0,44538,0,0,0,25288,0,0,0,39070,0,0,0,53342,0,0,0,5540,0,0,1,988378,0,0,,,,,0,83550,0,0,0,55938,0,0 +17-43047575-G-A,17,43047575,rs2050968367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+68C>T,,c.5467+68C>T,intron_variant,,,,1,1322066,7.563918896636022e-7,0,0,,,3.70,,0.00,0.00,0.974,,,0,30656,0,0,0,44544,0,0,0,25264,0,0,0,39052,0,0,0,53350,0,0,0,5522,0,0,0,984388,0,0,,,,,1,83498,0,0,0,55792,0,0 +17-43047578-A-G,17,43047578,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+65T>C,,c.5467+65T>C,intron_variant,,,,1,1345492,7.432225535343206e-7,0,0,,,7.59,,0.00,-0.0100,0.321,,,0,31138,0,0,0,44568,0,0,0,25400,0,0,1,39154,0,0,0,53360,0,0,0,5548,0,0,0,1005838,0,0,,,,,0,83942,0,0,0,56544,0,0 +17-43047578-A-T,17,43047578,rs752050539,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+65T>A,,c.5467+65T>A,intron_variant,,,,2,1345492,0.0000014864451070686411,0,0,nfe,3.3e-7,7.15,,0.00,-0.0100,0.321,,,0,31138,0,0,0,44568,0,0,0,25400,0,0,0,39154,0,0,0,53360,0,0,0,5548,0,0,2,1005838,0,0,,,,,0,83942,0,0,0,56544,0,0 +17-43047579-T-C,17,43047579,rs2152752864,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+64A>G,,c.5467+64A>G,intron_variant,,,,1,628624,0.0000015907760441853954,0,0,,,0.481,,0.00,0.00,-0.113,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36068,0,0,0,53120,0,0,0,4146,0,0,0,349996,0,0,,,,,0,69796,0,0,1,33092,0,0 +17-43047580-G-A,17,43047580,rs1382142086,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+63C>T,,c.5467+63C>T,intron_variant,,,,1,740866,0.0000013497717535964667,0,0,,,3.83,,0.00,0.00,0.536,,,0,13928,0,0,0,874,0,0,0,4610,0,0,0,3208,0,0,0,258,0,0,0,1456,0,0,1,677728,0,0,,,,,0,14618,0,0,0,24186,0,0 +17-43047582-G-A,17,43047582,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+61C>T,,c.5467+61C>T,intron_variant,,,,2,1397230,0.0000014314035627634678,0,0,amr,0.000007430000000000001,7.26,,0.00,0.00,1.74,,,0,32206,0,0,2,44640,0,0,0,25774,0,0,0,39404,0,0,0,53378,0,0,0,5650,0,0,0,1052958,0,0,,,,,0,84954,0,0,0,58266,0,0 +17-43047584-G-T,17,43047584,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+59C>A,,c.5467+59C>A,intron_variant,,,,1,790348,0.000001265265427381356,0,0,,,3.30,,0.00,0.00,1.08,,,0,14924,0,0,0,936,0,0,0,4902,0,0,0,3448,0,0,0,266,0,0,0,1560,0,0,1,722832,0,0,,,,,0,15564,0,0,0,25916,0,0 +17-43047591-C-G,17,43047591,rs898858577,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+52G>C,,c.5467+52G>C,intron_variant,,,,5,1595244,0.000003134316756558871,0,0,nfe,0.00000126,4.24,,0.00,-0.0200,1.24,,,0,74532,0,0,0,59968,0,0,0,29480,0,0,0,44808,0,0,0,63996,0,0,0,6056,0,0,5,1162902,0,0,0,912,0,0,0,90690,0,0,0,61900,0,0 +17-43047591-C-T,17,43047591,rs898858577,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+52G>A,,c.5467+52G>A,intron_variant,,,,15,1443108,0.000010394232448299088,0,0,nfe,0.00000823,4.67,,0.00,-0.0300,1.24,,,0,33098,0,0,0,44702,0,0,0,26010,0,0,0,39606,0,0,0,53400,0,0,0,5742,0,0,15,1094878,0,0,,,,,0,85866,0,0,0,59806,0,0 +17-43047594-AC-A,17,43047594,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48del,,c.5467+48del,intron_variant,,,,1,817538,0.0000012231847326974405,0,0,,,0.765,,0.0600,-0.0400,0.691,,,0,15484,0,0,0,968,0,0,0,5044,0,0,0,3550,0,0,0,272,0,0,0,1604,0,0,1,747672,0,0,,,,,0,16146,0,0,0,26798,0,0 +17-43047595-C-G,17,43047595,rs1255368071,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48G>C,,c.5467+48G>C,intron_variant,,,,1,1448642,6.903016756382874e-7,0,0,,,2.00,,0.0400,-0.0500,0.474,,,0,33236,0,0,0,44704,0,0,0,26050,0,0,0,39636,0,0,0,53408,0,0,0,5754,0,0,1,1099910,0,0,,,,,0,85986,0,0,0,59958,0,0 +17-43047595-C-T,17,43047595,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+48G>A,,c.5467+48G>A,intron_variant,,,,10,1448642,0.000006903016756382874,0,0,sas,0.00005410999999999999,2.51,,0.0600,-0.0500,0.474,,,0,33236,0,0,0,44704,0,0,0,26050,0,0,0,39636,0,0,0,53408,0,0,0,5754,0,0,1,1099910,0,0,,,,,9,85986,0,0,0,59958,0,0 +17-43047599-T-C,17,43047599,rs569138982,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+44A>G,,c.5467+44A>G,intron_variant,,,,12,1607774,0.0000074637355747760565,0,0,sas,0.00005944999999999999,0.276,,0.00,0.00,-0.622,,,0,74930,0,0,0,59990,0,0,0,29560,0,0,0,44860,0,0,0,64014,0,0,0,6050,0,0,2,1174208,0,0,0,912,0,0,10,90952,0,0,0,62298,0,0 +17-43047600-G-A,17,43047600,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+43C>T,,c.5467+43C>T,intron_variant,,,,1,1455414,6.870897215500194e-7,0,0,,,3.21,,0.00,0.00,1.33,,,0,33374,0,0,0,44708,0,0,0,26088,0,0,1,39652,0,0,0,53410,0,0,0,5756,0,0,0,1106108,0,0,,,,,0,86128,0,0,0,60190,0,0 +17-43047606-G-C,17,43047606,rs1311698384,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+37C>G,,c.5467+37C>G,intron_variant,,,,1,830190,0.0000012045435382261892,0,0,,,6.46,,0.00,0.00,2.44,,,0,15750,0,0,0,974,0,0,0,5132,0,0,0,3608,0,0,0,276,0,0,0,1614,0,0,1,759212,0,0,,,,,0,16402,0,0,0,27222,0,0 +17-43047610-C-A,17,43047610,rs2152757052,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+33G>T,,c.5467+33G>T,intron_variant,,,,2,831724,0.000002404643848199643,0,0,nfe,4.4e-7,1.85,,0.0200,-0.0400,-0.768,,,0,15776,0,0,0,982,0,0,0,5148,0,0,0,3618,0,0,0,276,0,0,0,1616,0,0,2,760624,0,0,,,,,0,16440,0,0,0,27244,0,0 +17-43047611-C-T,17,43047611,rs2152757260,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+32G>A,,c.5467+32G>A,intron_variant,,,,1,832056,0.0000012018421836991741,0,0,,,3.81,,0.0800,-0.0900,-0.298,,,0,15782,0,0,0,978,0,0,0,5148,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,760932,0,0,,,,,0,16444,0,0,0,27254,0,0 +17-43047612-C-A,17,43047612,rs1195023014,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+31G>T,,c.5467+31G>T,intron_variant,,,,1,628758,0.0000015904370202844338,0,0,,,2.11,,0.0100,-0.0100,0.0450,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047621-C-G,17,43047621,rs779046757,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+22G>C,,c.5467+22G>C,intron_variant,Likely benign,372004,,11,1461696,0.000007525504619291562,0,0,,,0.0710,,0.0200,0.00,-0.219,,,0,33480,0,0,0,44724,0,0,11,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1111824,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43047621-C-CA,17,43047621,rs1567757768,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+21dup,,c.5467+21dup,intron_variant,,,,13,1461696,0.000008893778186435483,0,0,nfe,0.00000652,4.25,,0.0300,0.0100,-0.219,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,13,1111824,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43047622-A-G,17,43047622,rs2050971311,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+21T>C,,c.5467+21T>C,intron_variant,not provided,868547,,1,152254,0.000006567971941623865,0,0,,,7.66,,0.0100,-0.0100,0.201,,,0,41458,0,0,0,15286,0,0,0,3472,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43047623-G-A,17,43047623,rs2050971586,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+20C>T,,c.5467+20C>T,intron_variant,not provided,868545,,2,1461784,0.0000013681911965105651,0,0,,,0.184,,0.0600,0.00,0.252,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111916,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43047626-A-G,17,43047626,rs1267019068,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+17T>C,,c.5467+17T>C,intron_variant,not provided,867551,,1,833048,0.0000012004110207334991,0,0,,,0.670,,0.0300,-0.0800,-1.60,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761844,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047628-A-C,17,43047628,rs1231236572,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+15T>G,,c.5467+15T>G,intron_variant,Likely benign,864893,,2,628770,0.000003180813333969496,0,0,nfe,9.5e-7,8.20,,0.480,0.210,-0.117,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047629-T-C,17,43047629,rs886052974,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+14A>G,,c.5467+14A>G,intron_variant,Conflicting interpretations of pathogenicity,323420,,10,1461842,0.000006840684560985387,0,0,nfe,0.0000031,2.09,,0.00,0.00,-0.292,,,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,8,1111968,0,0,,,,,0,86258,0,0,1,60394,0,0 +17-43047631-C-T,17,43047631,rs991060806,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+12G>A,,c.5467+12G>A,intron_variant,Likely benign,381399,,1,833074,0.0000012003735562507052,0,0,,,0.483,,0.0400,-0.0200,-0.336,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761870,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047634-G-A,17,43047634,rs80358031,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+9C>T,,c.5467+9C>T,intron_variant,Benign/Likely benign,125853,,14,1461850,0.000009576905975305264,0,0,nfe,0.00000652,2.92,,0.00,-0.0200,0.146,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,13,1111976,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43047635-C-T,17,43047635,rs80358062,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+8G>A,,c.5467+8G>A,splice_region_variant,Conflicting interpretations of pathogenicity,91651,,30,1614070,0.000018586554486484476,0,0,nfe,0.00001803,1.71,,0.620,0.180,-1.08,,,0,74926,0,0,0,60004,0,0,0,29606,0,0,0,44904,0,0,0,64024,0,0,0,6084,0,0,30,1180038,0,0,0,908,0,0,0,91092,0,0,0,62484,0,0 +17-43047635-C-A,17,43047635,rs80358062,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+8G>T,,c.5467+8G>T,splice_region_variant,not provided,55587,,1,1461870,6.840553537592262e-7,0,0,,,0.124,,0.00,0.00,-1.08,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53420,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86258,0,0,0,60392,0,0 +17-43047637-C-G,17,43047637,rs2050974173,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+6G>C,,c.5467+6G>C,intron_variant,Uncertain significance,867538,,1,833108,0.0000012003245677631232,0,0,,,0.0250,,0.00,0.00,0.156,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047639-T-A,17,43047639,rs1555574692,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5467+4A>T,,c.5467+4A>T,intron_variant,not provided,864881,,1,628772,0.0000015904016082141062,0,0,,,22.2,,0.370,-0.470,4.70,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33094,0,0 +17-43047641-A-G,17,43047641,rs80358009,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5467+2T>C,,c.5467+2T>C,splice_donor_variant,Pathogenic/Likely pathogenic,125851,,1,152212,0.000006569784248285286,0,0,,,32.0,,0.950,-0.730,4.69,,,0,41468,0,0,0,15282,0,0,0,3470,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43047642-C-T,17,43047642,rs80358145,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5467+1G>A,,c.5467+1G>A,splice_donor_variant,Pathogenic/Likely pathogenic,37673,,2,780976,0.0000025608981582020447,0,0,,,33.0,,0.950,-0.730,7.09,,,1,59146,0,0,0,59020,0,0,0,24454,0,0,1,41268,0,0,0,63756,0,0,0,4464,0,0,0,418138,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 +17-43047644-A-G,17,43047644,rs886052975,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys694Arg,p.Cys694Arg,c.2080T>C,missense_variant,Likely benign,323421,,1,628780,0.0000015903813734533542,0,0,,,0.554,,0.00,0.00,-2.40,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,1,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047645-T-C,17,43047645,rs2050976068,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1822Arg,p.His1822Arg,c.5465A>G,missense_variant,Conflicting interpretations of pathogenicity,868521,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,2.63,0.543,0.130,-0.130,-0.440,0.940,0.0570,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047646-G-T,17,43047646,rs2050976551,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1822Asn,p.His1822Asn,c.5464C>A,missense_variant,not provided,868517,,1,833104,0.0000012003303309070656,0,0,,,16.8,0.351,0.00,0.00,4.89,0.140,0.523,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047651-C-A,17,43047651,rs2050978714,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1820Val,p.Gly1820Val,c.5459G>T,missense_variant,Uncertain significance,865546,,1,833110,0.0000012003216862119048,0,0,,,19.7,0.597,0.00,0.00,1.30,0.00,0.985,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047652-C-T,17,43047652,rs398122698,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp691Ter,p.Trp691Ter,c.2072G>A,stop_gained,Conflicting interpretations of pathogenicity,91650,lof_flag,1,628780,0.0000015903813734533542,0,0,,,21.3,0.436,0.100,-0.210,1.04,0.150,0.291,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047653-A-G,17,43047653,rs1597799334,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Trp691Arg,p.Trp691Arg,c.2071T>C,missense_variant,Likely benign,757995,,1,833108,0.0000012003245677631232,0,0,,,1.85,,0.0600,0.0100,-0.0730,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43047654-T-C,17,43047654,rs80357286,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1819Ser,p.Asn1819Ser,c.5456A>G,missense_variant,Benign/Likely benign,55585,,106,1614076,0.00006567224839474721,0,0,eas,0.00008831999999999997,0.0860,0.421,0.0600,-0.190,-0.349,1.00,0.00,1,74934,0,0,1,60000,0,0,0,29606,0,0,8,44898,0,0,0,64030,0,0,0,6084,0,0,94,1180036,0,0,0,912,0,0,0,91092,0,0,2,62484,0,0 +17-43047658-C-T,17,43047658,rs2050981068,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1818Asn,p.Asp1818Asn,c.5452G>A,missense_variant,not provided,865532,,1,833110,0.0000012003216862119048,0,0,,,22.1,0.347,0.0600,-0.100,2.94,0.210,0.868,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047660-T-C,17,43047660,rs2050981907,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1817Gly,p.Glu1817Gly,c.5450A>G,missense_variant,not provided,867399,,1,152210,0.000006569870573549701,0,0,,,32.0,0.739,0.320,-0.370,3.71,,,0,41454,0,0,1,15276,0,0,0,3472,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43047661-C-G,17,43047661,rs80356868,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1817Gln,p.Glu1817Gln,c.5449G>C,missense_variant,not provided,867397,,1,152236,0.000006568748522031582,0,0,,,25.0,0.679,0.0500,-0.120,7.09,,,0,41458,0,0,0,15288,0,0,0,3472,0,0,0,5198,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43047665-C-A,17,43047665,rs397509284,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1815Cys,p.Trp1815Cys,c.5445G>T,missense_variant,not provided,868900,,1,833110,0.0000012003216862119048,0,0,,,31.0,0.745,0.0400,-0.160,8.87,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047666-C-T,17,43047666,rs80356962,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Trp1815Ter,p.Trp1815Ter,c.5444G>A,stop_gained,Pathogenic,55580,,4,1614094,0.0000024781704163450208,0,0,,,48.0,,0.280,-0.580,8.87,,,0,74918,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64042,0,0,1,6084,0,0,1,1180050,0,0,0,912,0,0,0,91086,0,0,2,62488,0,0 +17-43047666-C-G,17,43047666,rs80356962,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1815Ser,p.Trp1815Ser,c.5444G>C,missense_variant,Uncertain significance,566786,,3,1461892,0.0000020521351782484616,0,0,nfe,7.200000000000001e-7,28.4,0.773,0.0200,0.00,8.87,0.00,1.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047669-G-A,17,43047669,rs1398117278,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1814Val,p.Ala1814Val,c.5441C>T,missense_variant,not provided,865520,,1,152192,0.000006570647603027754,0,0,,,28.2,0.738,0.0200,-0.0600,8.76,,,0,41446,0,0,0,15280,0,0,0,3472,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43047669-G-GC,17,43047669,rs1057517637,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1814GlyfsTer16,p.Ala1814GlyfsTer16,c.5440dup,frameshift_variant,Pathogenic/Likely pathogenic,372068,,1,628780,0.0000015903813734533542,0,0,,,34.0,,0.170,-0.330,8.76,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43047669-G-T,17,43047669,rs1398117278,G,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys685Ter,p.Cys685Ter,c.2055C>A,stop_gained,Uncertain significance,825736,lof_flag,1,628780,0.0000015903813734533542,0,0,,,27.7,0.731,0.0300,0.00,8.76,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047670-C-T,17,43047670,rs2050984571,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1814Thr,p.Ala1814Thr,c.5440G>A,missense_variant,not provided,865516,,1,628774,0.0000015903965494756462,0,0,,,25.5,0.618,0.0200,-0.0600,3.50,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4146,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047671-A-G,17,43047671,rs760396669,A,G,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys685Arg,p.Cys685Arg,c.2053T>C,missense_variant,Likely benign,230363,,10,1461890,0.000006840459952527208,0,0,sas,0.000015830000000000003,1.08,,0.0400,0.00,-2.54,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,6,1112010,0,0,,,,,4,86258,0,0,0,60396,0,0 +17-43047673-C-T,17,43047673,rs1303996018,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1813Asn,p.Asp1813Asn,c.5437G>A,missense_variant,Likely benign,865508,,3,1461888,0.000002052140793275545,0,0,nfe,7.200000000000001e-7,25.1,0.489,0.0500,-0.140,6.75,0.00,0.489,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047675-G-C,17,43047675,rs2050986502,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1812Arg,p.Pro1812Arg,c.5435C>G,missense_variant,not provided,865503,,1,628780,0.0000015903813734533542,0,0,,,27.1,0.751,0.0300,0.00,7.00,0.00,0.802,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047676-G-C,17,43047676,rs1800751,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1812Ala,p.Pro1812Ala,c.5434C>G,missense_variant,Pathogenic/Likely pathogenic,37670,,1,628778,0.0000015903864320952704,0,0,,,26.3,0.639,0.180,-0.200,5.83,0.00,0.00600,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047678-T-G,17,43047678,rs80357040,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Pro,p.Gln1811Pro,c.5432A>C,missense_variant,not provided,868483,,1,1461888,6.840469310918484e-7,0,0,,,27.1,0.714,0.0300,0.0400,3.73,0.00,0.979,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047678-T-C,17,43047678,rs80357040,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Arg,p.Gln1811Arg,c.5432A>G,missense_variant,Likely pathogenic,55578,,1,1461888,6.840469310918484e-7,0,0,,,26.4,0.709,0.0300,0.0100,3.73,0.00,0.955,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047679-G-A,17,43047679,rs397509283,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1811Ter,p.Gln1811Ter,c.5431C>T,stop_gained,Pathogenic,55577,,1,833106,0.0000012003274493281767,0,0,,,45.0,,0.410,-0.520,4.94,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43047680-C-T,17,43047680,rs786201582,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Ala682Thr,p.Ala682Thr,c.2044G>A,missense_variant,Likely benign,184631,,19,1461888,0.000012996891690745119,0,0,sas,0.00008884999999999999,8.79,,0.0100,-0.0700,0.278,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,4,1112008,0,0,,,,,13,86258,0,0,1,60396,0,0 +17-43047681-A-G,17,43047681,rs80357451,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1810Ala,p.Val1810Ala,c.5429T>C,missense_variant,Conflicting interpretations of pathogenicity,185996,,8,1614134,0.000004956218009161569,0,0,afr,0.00004371999999999999,25.3,0.725,0.0100,0.00,3.72,0.00,0.0980,7,74942,0,0,0,60012,0,0,0,29606,0,0,0,44902,0,0,0,64050,0,0,0,6084,0,0,0,1180050,0,0,0,912,0,0,0,91090,0,0,1,62486,0,0 +17-43047682-C-G,17,43047682,rs2050988927,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1810Leu,p.Val1810Leu,c.5428G>C,missense_variant,Uncertain significance,867386,,1,628774,0.0000015903965494756462,0,0,,,16.2,0.677,0.0200,0.0200,-0.334,0.0400,0.140,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047690-A-G,17,43047690,rs2050991229,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1807Thr,p.Ile1807Thr,c.5420T>C,missense_variant,Likely pathogenic,868478,,1,628754,0.0000015904471383084641,0,0,,,24.8,0.633,0.0200,0.00,6.31,0.00,0.187,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43047691-T-C,17,43047691,rs786202721,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1807Val,p.Ile1807Val,c.5419A>G,missense_variant,Conflicting interpretations of pathogenicity,186137,,4,1461884,0.0000027361952111111416,0,0,afr,0.00000989,0.0230,0.495,0.0200,-0.0200,-6.44,1.00,0.00,2,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86258,0,0,1,60394,0,0 +17-43047694-G-C,17,43047694,rs80357241,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1806Ala,p.Pro1806Ala,c.5416C>G,missense_variant,Conflicting interpretations of pathogenicity,55570,,15,1613996,0.000009293703330119777,0,0,sas,0.00003586999999999999,2.62,0.473,0.00,0.00,0.751,0.430,0.00,0,74890,0,0,5,59994,0,0,0,29604,0,0,0,44892,0,0,0,64024,0,0,0,6084,0,0,3,1180028,0,0,0,912,0,0,7,91080,0,0,0,62488,0,0 +17-43047695-G-A,17,43047695,rs1060504559,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Pro677Ser,p.Pro677Ser,c.2029C>T,missense_variant,Likely benign,415554,,4,1614068,0.000002478210335624026,0,0,nfe,7.899999999999998e-7,0.151,,0.00,0.00,-0.672,,,0,74922,0,0,0,60006,0,0,0,29606,0,0,0,44898,0,0,0,64028,0,0,0,6084,0,0,4,1180036,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43047697-G-A,17,43047697,rs587782873,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1805Tyr,p.His1805Tyr,c.5413C>T,missense_variant,Uncertain significance,142988,,1,833094,0.0000012003447390090433,0,0,,,22.1,0.458,0.00,0.00,4.14,0.0300,0.296,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43047698-G-A,17,43047698,rs730881456,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Pro676Ser,p.Pro676Ser,c.2026C>T,missense_variant,Likely benign,182098,,15,1614066,0.000009293300273966493,0,0,amr,0.00001327,1.14,,0.0400,-0.100,1.05,,,0,74928,0,0,3,60000,0,0,0,29606,0,0,0,44896,0,0,0,64032,0,0,0,6084,0,0,10,1180034,0,0,0,912,0,0,0,91084,0,0,2,62490,0,0 +17-43047699-A-T,17,43047699,rs80356920,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,p.Cys675Ter,p.Cys675Ter,c.2025T>A,stop_gained,Benign,55568,lof_flag,121,1614188,0.00007496028963169099,0,0,amr,0.00041624000000000023,15.7,0.445,0.00,0.0300,2.21,0.0400,0.00,0,75054,0,0,34,60018,0,0,23,29606,0,0,0,44884,0,0,0,64040,0,0,0,6062,0,0,56,1180020,0,0,0,912,0,0,0,91082,0,0,8,62510,0,0 +17-43047701-A-C,17,43047701,rs2050995166,A,C,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Cys675Gly,p.Cys675Gly,c.2023T>G,missense_variant,not provided,868464,,1,1461864,6.840581613611115e-7,0,0,,,5.90,,0.110,-0.170,-1.42,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53412,0,0,0,5768,0,0,0,1111992,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047702-C-G,17,43047702,rs80357149,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Ala,p.Gly1803Ala,c.5408G>C,missense_variant,Pathogenic/Likely pathogenic,37668,,1,1461856,6.840619048661428e-7,0,0,,,1.34,0.519,0.00,-0.0600,0.0180,0.140,0.0480,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53406,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60392,0,0 +17-43047702-C-T,17,43047702,rs80357149,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1803Asp,p.Gly1803Asp,c.5408G>A,missense_variant,Uncertain significance,868461,,1,152184,0.000006570993008463439,0,0,,,2.36,0.539,0.00,0.0100,0.0180,,,0,41438,0,0,0,15278,0,0,0,3470,0,0,1,5196,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43047702-C-A,17,43047702,rs80357149,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Val,p.Gly1803Val,c.5408G>T,missense_variant,Uncertain significance,628196,,1,1461856,6.840619048661428e-7,0,0,,,9.86,0.558,0.00,0.00,0.0180,0.00,0.0390,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53406,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60392,0,0 +17-43047703-C-A,17,43047703,rs876659510,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Cys,p.Gly1803Cys,c.5407G>T,missense_variant,Conflicting interpretations of pathogenicity,651964,,8,1461856,0.000005472495238929142,0,0,nfe,0.0000031,29.6,0.623,0.130,-0.330,2.02,0.00,0.828,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,8,1111990,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047703-C-T,17,43047703,rs876659510,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1803Ser,p.Gly1803Ser,c.5407G>A,missense_variant,Uncertain significance,232037,,1,1461856,6.840619048661428e-7,0,0,,,24.2,0.547,0.0900,-0.280,2.02,0.0100,0.147,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43047703-C-G,17,43047703,rs876659510,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1803Arg,p.Gly1803Arg,c.5407G>C,missense_variant,not provided,868074,,1,152140,0.000006572893387669252,0,0,,,24.3,0.562,0.0700,-0.270,2.02,,,1,41424,0,0,0,15262,0,0,0,3472,0,0,0,5188,0,0,0,10610,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43047704-C-T,17,43047704,rs80358029,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-1G>A,,c.5407-1G>A,splice_acceptor_variant,Pathogenic,125845,,1,833102,0.0000012003332124997898,0,0,,,33.0,,0.910,-0.680,8.87,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43047707-G-C,17,43047707,rs876660347,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-4C>G,,c.5407-4C>G,splice_region_variant,Conflicting interpretations of pathogenicity,233348,,13,1461814,0.00000889306026621718,0,0,nfe,0.00000575,0.152,,0.00,0.00,-0.459,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,12,1111954,0,0,,,,,0,86256,0,0,1,60394,0,0 +17-43047712-C-T,17,43047712,rs551078372,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-9G>A,,c.5407-9G>A,intron_variant,Uncertain significance,531443,,1,152260,0.000006567713122290818,0,0,,,23.4,,0.890,0.530,2.25,,,1,41564,0,0,0,15282,0,0,0,3472,0,0,0,5174,0,0,0,10622,0,0,0,294,0,0,0,68008,0,0,0,912,0,0,0,4820,0,0,0,2112,0,0 +17-43047715-G-A,17,43047715,rs1432221089,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-12C>T,,c.5407-12C>T,intron_variant,not provided,868068,,3,780802,0.000003842203273044895,0,0,,,9.17,,0.00,0.00,1.40,,,1,59144,0,0,1,58998,0,0,0,24446,0,0,0,41260,0,0,0,63740,0,0,0,4464,0,0,0,418046,0,0,0,912,0,0,0,74612,0,0,1,35180,0,0 +17-43047718-A-G,17,43047718,rs1482222810,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-15T>C,,c.5407-15T>C,intron_variant,Likely benign,1657896,,1,628600,0.000001590836780146357,0,0,,,17.0,,0.0900,-0.0900,3.54,,,0,17694,0,0,1,43732,0,0,0,20978,0,0,0,36068,0,0,0,53120,0,0,0,4148,0,0,0,349988,0,0,,,,,0,69788,0,0,0,33084,0,0 +17-43047719-G-A,17,43047719,rs587776493,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-16C>T,,c.5407-16C>T,intron_variant,Likely benign,156197,,14,985214,0.000014210110696762328,0,0,nfe,0.00000979,15.3,,0.00,0.00,0.734,,,0,57232,0,0,0,16264,0,0,0,8620,0,0,0,8824,0,0,0,10888,0,0,0,1936,0,0,14,829868,0,0,0,912,0,0,0,21284,0,0,0,29386,0,0 +17-43047720-G-C,17,43047720,rs867576129,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-17C>G,,c.5407-17C>G,intron_variant,Likely benign,749358,,1,1461600,6.841817186644772e-7,0,0,,,16.1,,0.220,-0.270,1.13,,,0,33476,0,0,0,44716,0,0,0,26128,0,0,0,39696,0,0,0,53400,0,0,0,5768,0,0,1,1111794,0,0,,,,,0,86246,0,0,0,60376,0,0 +17-43047723-A-G,17,43047723,rs1156875493,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-20T>C,,c.5407-20T>C,intron_variant,Likely benign,1093939,,1,628584,0.0000015908772733636235,0,0,,,18.7,,0.350,-0.370,3.63,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,1,349978,0,0,,,,,0,69788,0,0,0,33082,0,0 +17-43047724-G-C,17,43047724,rs273901768,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-21C>G,,c.5407-21C>G,intron_variant,Likely benign,433735,,9,1461542,0.000006157879828290942,0,0,nfe,0.0000031,2.11,,0.0700,-0.0900,-0.0770,,,1,33476,0,0,0,44716,0,0,0,26126,0,0,0,39694,0,0,0,53390,0,0,0,5768,0,0,8,1111758,0,0,,,,,0,86246,0,0,0,60368,0,0 +17-43047726-G-A,17,43047726,rs1262115234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-23C>T,,c.5407-23C>T,intron_variant,Likely benign,1325648,,1,1461324,6.843109399421347e-7,0,0,,,3.97,,0.00,0.00,0.564,,,0,33466,0,0,0,44714,0,0,0,26128,0,0,0,39692,0,0,0,53392,0,0,0,5768,0,0,0,1111560,0,0,,,,,1,86244,0,0,0,60360,0,0 +17-43047728-A-T,17,43047728,rs758780152,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-25T>A,,c.5407-25T>A,intron_variant,Conflicting interpretations of pathogenicity,371817,,5,1613290,0.0000030992567982197867,0,0,nfe,0.0000012399999999999998,14.4,,0.410,-0.510,1.17,,,0,74908,0,0,0,59994,0,0,0,29596,0,0,0,44878,0,0,0,64012,0,0,0,6084,0,0,5,1179398,0,0,0,912,0,0,0,91072,0,0,0,62436,0,0 +17-43047728-A-G,17,43047728,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-25T>C,,c.5407-25T>C,intron_variant,,,,1,1461098,6.844167879225076e-7,0,0,,,9.97,,0.0600,-0.130,1.17,,,0,33454,0,0,0,44720,0,0,0,26128,0,0,0,39688,0,0,0,53392,0,0,0,5768,0,0,1,1111364,0,0,,,,,0,86242,0,0,0,60342,0,0 +17-43047732-A-C,17,43047732,rs367978134,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-29T>G,,c.5407-29T>G,intron_variant,,,,5,1612156,0.000003101436833656296,0,0,afr,0.00000443,8.21,,0.110,-0.230,-0.923,,,2,74872,0,0,1,59996,0,0,0,29594,0,0,0,44868,0,0,0,63998,0,0,0,6084,0,0,2,1178358,0,0,0,910,0,0,0,91054,0,0,0,62422,0,0 +17-43047735-G-A,17,43047735,rs750565541,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-32C>T,,c.5407-32C>T,intron_variant,,,,39,1612026,0.00002419315817486815,0,0,afr,0.00001747,2.36,,0.00,0.00,-1.50,,,4,74848,0,0,0,59988,0,0,0,29590,0,0,0,44868,0,0,32,63988,0,0,0,6082,0,0,2,1178294,0,0,0,910,0,0,0,91040,0,0,1,62418,0,0 +17-43047735-G-T,17,43047735,rs750565541,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-32C>A,,c.5407-32C>A,intron_variant,,,,1,1459876,6.849896840553581e-7,0,0,,,1.93,,0.00,-0.0200,-1.50,,,0,33412,0,0,0,44718,0,0,0,26118,0,0,0,39676,0,0,0,53374,0,0,0,5766,0,0,1,1110268,0,0,,,,,0,86220,0,0,0,60324,0,0 +17-43047737-G-A,17,43047737,rs756361151,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-34C>T,,c.5407-34C>T,intron_variant,,,,13,1457224,0.00000892107184619523,0,0,nfe,0.00000655,3.81,,0.0500,-0.0700,0.191,,,0,33378,0,0,0,44714,0,0,0,26108,0,0,0,39656,0,0,0,53366,0,0,0,5764,0,0,13,1107836,0,0,,,,,0,86158,0,0,0,60244,0,0 +17-43047743-G-A,17,43047743,rs1481500363,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-40C>T,,c.5407-40C>T,intron_variant,,,,1,1451714,6.888409149460569e-7,0,0,,,3.14,,0.00,0.00,0.140,,,0,33270,0,0,0,44700,0,0,0,26084,0,0,0,39628,0,0,0,53338,0,0,0,5752,0,0,1,1102810,0,0,,,,,0,86064,0,0,0,60068,0,0 +17-43047744-T-C,17,43047744,rs1040478746,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-41A>G,,c.5407-41A>G,intron_variant,,,,1,821544,0.0000012172202584402053,0,0,,,0.550,,0.00,0.00,-0.327,,,0,15540,0,0,0,968,0,0,0,5098,0,0,0,3564,0,0,0,276,0,0,0,1596,0,0,1,751356,0,0,,,,,0,16240,0,0,0,26906,0,0 +17-43047746-G-A,17,43047746,rs2152818829,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-43C>T,,c.5407-43C>T,intron_variant,,,,1,1446344,6.913984501612342e-7,0,0,,,6.81,,0.00,0.00,1.19,,,0,33128,0,0,0,44682,0,0,0,26026,0,0,0,39598,0,0,0,53312,0,0,0,5742,0,0,0,1098006,0,0,,,,,1,85948,0,0,0,59902,0,0 +17-43047749-CT-C,17,43047749,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-47del,,c.5407-47del,intron_variant,,,,1,628354,0.0000015914595912495185,0,0,,,4.18,,0.00,-0.220,1.30,,,0,17672,0,0,0,43718,0,0,0,20960,0,0,1,36054,0,0,0,53038,0,0,0,4148,0,0,0,349896,0,0,,,,,0,69790,0,0,0,33078,0,0 +17-43047750-T-G,17,43047750,rs1176847500,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-47A>C,,c.5407-47A>C,intron_variant,,,,1,628416,0.0000015913025766371322,0,0,,,8.03,,0.00,-0.0600,0.891,,,0,17676,0,0,0,43716,0,0,0,20968,0,0,0,36054,0,0,0,53046,0,0,0,4148,0,0,0,349936,0,0,,,,,1,69788,0,0,0,33084,0,0 +17-43047752-C-G,17,43047752,rs2152819710,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-49G>C,,c.5407-49G>C,intron_variant,,,,1,628218,0.0000015918041189523383,0,0,,,0.00500,,0.00,-0.0100,-4.86,,,0,17664,0,0,0,43702,0,0,0,20968,0,0,1,36048,0,0,0,53008,0,0,0,4146,0,0,0,349828,0,0,,,,,0,69784,0,0,0,33070,0,0 +17-43047753-T-G,17,43047753,rs1435317366,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-50A>C,,c.5407-50A>C,intron_variant,,,,1,152162,0.000006571943060685322,0,0,,,3.57,,0.00,-0.0100,0.514,,,1,41444,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10616,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43047754-G-A,17,43047754,rs2152819983,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-51C>T,,c.5407-51C>T,intron_variant,,,,1,807544,0.000001238322617714948,0,0,,,0.911,,0.00,0.00,0.0440,,,0,15242,0,0,0,952,0,0,0,5002,0,0,0,3478,0,0,0,274,0,0,0,1570,0,0,0,738664,0,0,,,,,0,15908,0,0,1,26454,0,0 +17-43047758-C-A,17,43047758,rs2152820535,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-55G>T,,c.5407-55G>T,intron_variant,,,,1,1428170,7.00196755288236e-7,0,0,,,0.00200,,0.00,0.00,-4.44,,,0,32770,0,0,0,44624,0,0,1,25876,0,0,0,39498,0,0,0,53210,0,0,0,5700,0,0,0,1081648,0,0,,,,,0,85518,0,0,0,59326,0,0 +17-43047760-G-A,17,43047760,rs2152820688,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-57C>T,,c.5407-57C>T,intron_variant,,,,1,796670,0.000001255224873536094,0,0,,,11.8,,0.00,0.00,0.812,,,0,15022,0,0,0,932,0,0,0,4932,0,0,0,3444,0,0,0,270,0,0,0,1548,0,0,1,728748,0,0,,,,,0,15652,0,0,0,26122,0,0 +17-43047761-T-C,17,43047761,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-58A>G,,c.5407-58A>G,intron_variant,,,,1,627726,0.0000015930517455067976,0,0,,,11.3,,0.00,-0.0500,0.200,,,0,17662,0,0,0,43624,0,0,0,20946,0,0,1,36046,0,0,0,52854,0,0,0,4146,0,0,0,349644,0,0,,,,,0,69758,0,0,0,33046,0,0 +17-43047765-T-C,17,43047765,rs2152821423,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-62A>G,,c.5407-62A>G,intron_variant,,,,2,795378,0.0000025145276836925337,0,0,nfe,4.6000000000000004e-7,0.193,,0.00,-0.0200,-6.78,,,0,14946,0,0,0,916,0,0,0,4924,0,0,0,3436,0,0,0,270,0,0,0,1536,0,0,2,727660,0,0,,,,,0,15640,0,0,0,26050,0,0 +17-43047766-T-C,17,43047766,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-63A>G,,c.5407-63A>G,intron_variant,,,,1,626596,0.0000015959246468218757,0,0,,,9.64,,0.00,-0.0300,0.00900,,,0,17624,0,0,0,43524,0,0,0,20912,0,0,0,36022,0,0,0,52720,0,0,0,4142,0,0,1,348960,0,0,,,,,0,69714,0,0,0,32978,0,0 +17-43047768-A-T,17,43047768,rs960072819,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-65T>A,,c.5407-65T>A,intron_variant,,,,1,151958,0.000006580765737901262,0,0,,,8.45,,0.00,-0.0400,-0.0280,,,0,41370,0,0,0,15250,0,0,0,3470,0,0,0,5162,0,0,0,10596,0,0,0,316,0,0,1,67970,0,0,0,912,0,0,0,4826,0,0,0,2086,0,0 +17-43047770-C-A,17,43047770,rs2152821830,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-67G>T,,c.5407-67G>T,intron_variant,,,,1,625184,0.0000015995290986333623,0,0,,,7.05,,0.00,0.00,-0.915,,,0,17598,0,0,0,43372,0,0,0,20854,0,0,0,35962,0,0,0,52508,0,0,0,4136,0,0,1,348202,0,0,,,,,0,69636,0,0,0,32916,0,0 +17-43047770-C-T,17,43047770,rs2152821830,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5407-67G>A,,c.5407-67G>A,intron_variant,,,,1,151996,0.000006579120503171136,0,0,,,7.64,,0.00,0.00,-0.915,,,0,41392,0,0,0,15258,0,0,0,3466,0,0,1,5164,0,0,0,10604,0,0,0,316,0,0,0,67974,0,0,0,912,0,0,0,4826,0,0,0,2084,0,0 +17-43047771-AT-A,17,43047771,rs376647498,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-69del,,c.5407-69del,intron_variant,,,,87,1559854,0.00005577445068576931,0,0,nfe,0.00005238,2.08,,0.00,-0.0100,0.269,,,2,73518,0,0,3,59446,0,0,0,29096,0,0,4,44458,0,0,0,63176,0,0,0,5970,0,0,73,1132694,0,0,0,912,0,0,2,89874,0,0,3,60710,0,0 +17-43047771-A-AT,17,43047771,rs376647498,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69dup,,c.5407-69dup,intron_variant,,,,37,1409040,0.000026259013228865042,0,0,nfe,0.00001735,4.24,,0.00,0.00,0.269,,,1,32274,0,0,1,44250,0,0,0,25660,0,0,2,39356,0,0,1,52672,0,0,0,5654,0,0,27,1065434,0,0,,,,,1,85076,0,0,4,58664,0,0 +17-43047771-A-C,17,43047771,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-68T>G,,c.5407-68T>G,intron_variant,,,,1,1409124,7.096607537732662e-7,0,0,,,7.47,,0.00,-0.0400,0.269,,,0,32274,0,0,0,44250,0,0,0,25662,0,0,0,39356,0,0,0,52678,0,0,0,5656,0,0,1,1065498,0,0,,,,,0,85082,0,0,0,58668,0,0 +17-43047772-T-C,17,43047772,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69A>G,,c.5407-69A>G,intron_variant,,,,1,1352416,7.394174573504011e-7,0,0,,,6.62,,0.00,-0.0100,0.270,,,0,31100,0,0,0,43510,0,0,0,25090,0,0,0,38518,0,0,0,51246,0,0,0,5526,0,0,1,1017244,0,0,,,,,0,83748,0,0,0,56434,0,0 +17-43047772-T-A,17,43047772,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-69A>T,,c.5407-69A>T,intron_variant,,,,2,1352416,0.0000014788349147008022,0,0,nfe,3.3e-7,5.84,,0.00,-0.0100,0.270,,,0,31100,0,0,0,43510,0,0,0,25090,0,0,0,38518,0,0,0,51246,0,0,0,5526,0,0,2,1017244,0,0,,,,,0,83748,0,0,0,56434,0,0 +17-43047773-T-G,17,43047773,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-70A>C,,c.5407-70A>C,intron_variant,,,,1,787024,0.0000012706092825631748,0,0,,,7.28,,0.00,-0.0400,0.270,,,0,14800,0,0,0,916,0,0,0,4856,0,0,0,3428,0,0,0,264,0,0,0,1532,0,0,0,719878,0,0,,,,,1,15498,0,0,0,25852,0,0 +17-43047776-TTTTG-T,17,43047776,rs2051000818,TTTTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5407-77_5407-74del,,c.5407-77_5407-74del,intron_variant,,,,12,1380090,0.000008695085103145446,0,0,nfe,0.00000407,3.49,,0.00,0.0100,-2.07,,,0,31668,0,0,0,43348,0,0,0,25472,0,0,0,39046,0,0,0,51664,0,0,1,5576,0,0,9,1041502,0,0,,,,,2,84146,0,0,0,57668,0,0 +17-43047776-T-G,17,43047776,rs1267083930,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-73A>C,,c.5407-73A>C,intron_variant,Likely benign,433736,,20,1532210,0.000013053041032234485,0,0,amr,0.000022920000000000004,8.79,,0.00,-0.0200,-2.07,,,1,73096,0,0,4,58614,0,0,0,28942,0,0,0,44228,0,0,0,62278,0,0,0,5892,0,0,13,1109508,0,0,0,912,0,0,1,88978,0,0,1,59762,0,0 +17-43047778-T-C,17,43047778,rs2051000978,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5407-75A>G,,c.5407-75A>G,intron_variant,,,,16,1534052,0.000010429894162648984,0,0,sas,0.00011207999999999998,5.85,,0.0100,-0.0200,0.415,,,0,73130,0,0,0,58658,0,0,0,28950,0,0,0,44234,0,0,0,62306,0,0,0,5894,0,0,0,1111134,0,0,0,912,0,0,16,89030,0,0,0,59804,0,0 +17-43049048-C-T,17,43049048,rs1157983067,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5406+73G>A,,c.5406+73G>A,intron_variant,,,,4,152168,0.00002628673571315914,0,0,amr,0.00008876999999999992,2.50,,0.0100,0.0200,0.486,,,0,41448,0,0,4,15282,0,0,0,3468,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43049051-A-G,17,43049051,rs2152900021,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+70T>C,,c.5406+70T>C,intron_variant,,,,1,1290836,7.746917501526143e-7,0,0,,,5.25,,0.00,0.0100,0.632,,,0,29976,0,0,0,42458,0,0,0,24834,0,0,0,38776,0,0,0,52628,0,0,0,5426,0,0,0,960806,0,0,,,,,1,81042,0,0,0,54890,0,0 +17-43049052-C-T,17,43049052,rs2051064330,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+69G>A,,c.5406+69G>A,intron_variant,,,,1,1319820,7.576790774499553e-7,0,0,,,0.567,,0.00,0.00,-1.64,,,0,30578,0,0,0,42562,0,0,0,25016,0,0,0,38894,0,0,0,52662,0,0,0,5502,0,0,1,987236,0,0,,,,,0,81644,0,0,0,55726,0,0 +17-43049052-C-G,17,43049052,rs2051064330,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+69G>C,,c.5406+69G>C,intron_variant,,,,2,1471970,0.0000013587233435464039,0,0,,,0.434,,0.00,0.00,-1.64,,,1,72006,0,0,0,57828,0,0,0,28488,0,0,0,44096,0,0,0,63270,0,0,0,5818,0,0,1,1055266,0,0,0,912,0,0,0,86470,0,0,0,57816,0,0 +17-43049053-AG-A,17,43049053,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+67del,,c.5406+67del,intron_variant,,,,1,1321048,7.569747654892177e-7,0,0,,,4.57,,0.00,0.00,-0.365,,,0,30610,0,0,0,42764,0,0,0,25036,0,0,0,38924,0,0,0,52702,0,0,0,5508,0,0,0,987956,0,0,,,,,0,81770,0,0,1,55778,0,0 +17-43049053-A-G,17,43049053,rs8176307,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+68T>C,,c.5406+68T>C,intron_variant,Benign,125842,,2744,1473338,0.0018624375397905978,33,0,afr,0.031964730000000004,3.03,,0.00,0.0200,-0.365,,,2387,72178,31,0,139,58054,2,0,2,28508,0,0,0,44112,0,0,0,63326,0,0,10,5802,0,0,55,1055964,0,0,0,912,0,0,7,86590,0,0,144,57892,0,0 +17-43049055-G-T,17,43049055,rs2152900622,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+66C>A,,c.5406+66C>A,intron_variant,,,,2,692816,0.000002886769358675319,0,0,nfe,5.3e-7,4.89,,0.00,0.0100,0.384,,,0,12840,0,0,0,810,0,0,0,4350,0,0,0,2940,0,0,0,232,0,0,0,1342,0,0,2,633890,0,0,,,,,0,13640,0,0,0,22772,0,0 +17-43049056-T-G,17,43049056,rs1325470549,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+65A>C,,c.5406+65A>C,intron_variant,Likely benign,1275854,,64,1495336,0.00004279974534151522,0,0,nfe,0.00004677,9.92,,0.00,0.00,0.321,,,1,72416,0,0,0,58274,0,0,0,28662,0,0,0,44206,0,0,0,63336,0,0,0,5862,0,0,63,1075856,0,0,0,908,0,0,0,87154,0,0,0,58662,0,0 +17-43049056-T-A,17,43049056,rs1325470549,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+65A>T,,c.5406+65A>T,intron_variant,,,,1,1343246,7.444652729284137e-7,0,0,,,9.74,,0.00,0.00,0.321,,,0,31002,0,0,0,43004,0,0,0,25190,0,0,0,39014,0,0,0,52732,0,0,0,5546,0,0,1,1007858,0,0,,,,,0,82330,0,0,0,56570,0,0 +17-43049058-C-A,17,43049058,rs2152901037,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+63G>T,,c.5406+63G>T,intron_variant,,,,1,621140,0.0000016099430080175162,0,0,,,1.05,,0.00,0.00,0.200,,,0,17632,0,0,0,42414,0,0,0,20708,0,0,0,35966,0,0,0,52598,0,0,0,4124,0,0,1,346574,0,0,,,,,0,68236,0,0,0,32888,0,0 +17-43049059-C-T,17,43049059,rs1567758798,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+62G>A,,c.5406+62G>A,intron_variant,,,,1,741664,0.000001348319454631747,0,0,,,0.491,,0.00,0.00,-1.21,,,0,13778,0,0,0,878,0,0,0,4640,0,0,0,3158,0,0,0,246,0,0,0,1456,0,0,0,678566,0,0,,,,,0,14598,0,0,1,24344,0,0 +17-43049060-A-G,17,43049060,rs2051065094,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+61T>C,,c.5406+61T>C,intron_variant,,,,3,1367248,0.000002194188618304799,0,0,,,2.90,,0.00,0.0700,0.533,,,0,31452,0,0,0,43612,0,0,0,25420,0,0,1,39176,0,0,0,52960,0,0,0,5592,0,0,0,1028590,0,0,,,,,0,83072,0,0,2,57374,0,0 +17-43049061-G-A,17,43049061,rs2152901480,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+60C>T,,c.5406+60C>T,intron_variant,,,,1,623002,0.0000016051312836876929,0,0,,,2.51,,0.00,0.00,-0.149,,,0,17642,0,0,0,42754,0,0,0,20758,0,0,0,35990,0,0,0,52744,0,0,0,4140,0,0,1,347520,0,0,,,,,0,68510,0,0,0,32944,0,0 +17-43049063-C-G,17,43049063,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+58G>C,,c.5406+58G>C,intron_variant,,,,1,1390972,7.189217324288339e-7,0,0,,,5.63,,0.00,0.00,1.28,,,0,31942,0,0,0,43824,0,0,0,25570,0,0,0,39264,0,0,0,53072,0,0,0,5644,0,0,1,1049784,0,0,,,,,0,83756,0,0,0,58116,0,0 +17-43049063-C-T,17,43049063,rs2051065230,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+58G>A,,c.5406+58G>A,intron_variant,,,,3,1390972,0.000002156765197286502,0,0,nfe,7.600000000000001e-7,6.09,,0.00,0.00,1.28,,,0,31942,0,0,0,43824,0,0,0,25570,0,0,0,39264,0,0,0,53072,0,0,0,5644,0,0,3,1049784,0,0,,,,,0,83756,0,0,0,58116,0,0 +17-43049064-T-A,17,43049064,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+57A>T,,c.5406+57A>T,intron_variant,,,,1,624380,0.0000016015887760658572,0,0,,,3.03,,0.00,0.00,0.0800,,,0,17652,0,0,0,42996,0,0,0,20790,0,0,0,36012,0,0,0,52870,0,0,0,4138,0,0,1,348184,0,0,,,,,0,68754,0,0,0,32984,0,0 +17-43049065-T-C,17,43049065,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+56A>G,,c.5406+56A>G,intron_variant,,,,3,1396368,0.0000021484307861537934,0,0,nfe,7.600000000000001e-7,7.02,,0.00,0.0100,0.453,,,0,32048,0,0,0,43964,0,0,0,25632,0,0,0,39312,0,0,0,53132,0,0,0,5650,0,0,3,1054326,0,0,,,,,0,84016,0,0,0,58288,0,0 +17-43049066-G-A,17,43049066,rs2152901797,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+55C>T,,c.5406+55C>T,intron_variant,,,,1,770120,0.000001298498935230873,0,0,,,7.42,,0.00,0.0200,1.38,,,0,14372,0,0,0,898,0,0,0,4790,0,0,0,3296,0,0,0,262,0,0,0,1502,0,0,1,704570,0,0,,,,,0,15170,0,0,0,25260,0,0 +17-43049067-C-T,17,43049067,rs527352287,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+54G>A,,c.5406+54G>A,intron_variant,,,,2,1556752,0.0000012847261477743404,0,0,,,1.61,,0.00,0.0300,0.249,,,0,73756,0,0,0,59322,0,0,0,29162,0,0,0,44546,0,0,0,63792,0,0,0,5956,0,0,0,1129508,0,0,0,910,0,0,2,89132,0,0,0,60668,0,0 +17-43049068-T-A,17,43049068,rs273901766,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+53A>T,,c.5406+53A>T,intron_variant,Likely benign,125839,,1,625762,0.0000015980516554217098,0,0,,,3.61,,0.00,0.00,2.09,,,0,17662,0,0,0,43224,0,0,0,20856,0,0,0,36036,0,0,0,52952,0,0,0,4142,0,0,0,348848,0,0,,,,,0,69030,0,0,1,33012,0,0 +17-43049074-G-T,17,43049074,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+47C>A,,c.5406+47C>A,intron_variant,,,,1,1415634,7.063972750018719e-7,0,0,,,6.71,,0.00,0.0200,0.209,,,0,32396,0,0,0,44342,0,0,0,25824,0,0,0,39436,0,0,0,53286,0,0,0,5692,0,0,1,1070846,0,0,,,,,0,84894,0,0,0,58918,0,0 +17-43049075-A-T,17,43049075,rs779935143,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+46T>A,,c.5406+46T>A,intron_variant,,,,8,1422336,0.00000562455003599712,0,0,nfe,0.0000027000000000000004,5.43,,0.00,0.0100,0.481,,,0,32588,0,0,0,44388,0,0,0,25848,0,0,0,39486,0,0,0,53318,0,0,0,5706,0,0,7,1076822,0,0,,,,,0,85038,0,0,1,59142,0,0 +17-43049076-G-C,17,43049076,rs1432367884,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+45C>G,,c.5406+45C>G,intron_variant,,,,3,1423034,0.000002108171695124642,0,0,nfe,3.1e-7,0.194,,0.00,0.00,-0.774,,,1,32598,0,0,0,44410,0,0,0,25872,0,0,0,39494,0,0,0,53320,0,0,0,5706,0,0,2,1077408,0,0,,,,,0,85068,0,0,0,59158,0,0 +17-43049076-G-A,17,43049076,rs1432367884,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+45C>T,,c.5406+45C>T,intron_variant,,,,1,1423034,7.027238983748807e-7,0,0,,,0.232,,0.00,0.00,-0.774,,,0,32598,0,0,0,44410,0,0,0,25872,0,0,0,39494,0,0,0,53320,0,0,0,5706,0,0,1,1077408,0,0,,,,,0,85068,0,0,0,59158,0,0 +17-43049079-A-G,17,43049079,rs2051066072,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+42T>C,,c.5406+42T>C,intron_variant,,,,2,627728,0.0000031860933397904824,0,0,,,6.04,,0.00,0.0200,-0.300,,,1,17684,0,0,0,43538,0,0,0,20942,0,0,0,36064,0,0,0,53074,0,0,0,4146,0,0,0,349750,0,0,,,,,0,69454,0,0,1,33076,0,0 +17-43049081-T-C,17,43049081,rs1464941547,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+40A>G,,c.5406+40A>G,intron_variant,,,,4,1429918,0.0000027973632054425497,0,0,amr,0.000007450000000000001,0.912,,0.00,0.00,-0.662,,,0,32718,0,0,2,44518,0,0,0,25932,0,0,0,39534,0,0,0,53356,0,0,0,5724,0,0,1,1083414,0,0,,,,,1,85362,0,0,0,59360,0,0 +17-43049082-A-G,17,43049082,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+39T>C,,c.5406+39T>C,intron_variant,,,,1,805114,0.0000012420601306150433,0,0,,,4.19,,0.00,0.0400,0.0190,,,0,15110,0,0,0,948,0,0,0,5002,0,0,0,3486,0,0,0,270,0,0,0,1582,0,0,1,736440,0,0,,,,,0,15894,0,0,0,26382,0,0 +17-43049083-T-C,17,43049083,rs1716314954,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+38A>G,,c.5406+38A>G,intron_variant,,,,2,628020,0.0000031846119550332793,0,0,nfe,9.5e-7,0.0140,,0.00,0.00,-3.17,,,0,17692,0,0,0,43590,0,0,0,20956,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,2,349838,0,0,,,,,0,69562,0,0,0,33084,0,0 +17-43049083-TTG-T,17,43049083,rs2152903945,TTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36_5406+37del,,c.5406+36_5406+37del,intron_variant,,,,1,628020,0.0000015923059775166397,0,0,,,3.59,,0.00,0.0200,-3.17,,,0,17692,0,0,0,43590,0,0,0,20956,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,1,349838,0,0,,,,,0,69562,0,0,0,33084,0,0 +17-43049085-G-A,17,43049085,rs1291031991,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36C>T,,c.5406+36C>T,intron_variant,,,,1,1437258,6.957693051630257e-7,0,0,,,3.11,,0.00,0.00,0.0890,,,0,32884,0,0,0,44548,0,0,0,25978,0,0,0,39578,0,0,0,53350,0,0,0,5734,0,0,1,1090038,0,0,,,,,0,85554,0,0,0,59594,0,0 +17-43049085-G-T,17,43049085,rs1291031991,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+36C>A,,c.5406+36C>A,intron_variant,,,,1,1437256,6.95770273354225e-7,0,0,,,2.56,,0.00,0.00,0.0890,,,0,32884,0,0,0,44548,0,0,0,25978,0,0,0,39578,0,0,0,53350,0,0,0,5734,0,0,0,1090036,0,0,,,,,1,85554,0,0,0,59594,0,0 +17-43049087-G-A,17,43049087,rs1167828270,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+34C>T,,c.5406+34C>T,intron_variant,Likely benign,923730,,28,1591248,0.000017596251495681376,0,0,nfe,0.00001594,3.93,,0.00,0.00,1.16,,,0,74386,0,0,0,59828,0,0,0,29466,0,0,0,44784,0,0,0,63962,0,0,0,6048,0,0,27,1159680,0,0,0,912,0,0,0,90438,0,0,1,61744,0,0 +17-43049088-T-A,17,43049088,rs80358092,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+33A>T,,c.5406+33A>T,intron_variant,Benign,55561,,448,1594272,0.00028100600148531744,0,0,eas,0.00729401,3.20,,0.00,0.00,-0.754,,,0,74536,0,0,2,59876,0,0,0,29480,0,0,357,44760,0,0,1,63980,0,0,0,6032,0,0,10,1162332,0,0,0,912,0,0,47,90488,0,0,31,61876,0,0 +17-43049092-C-T,17,43049092,rs1399767823,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+29G>A,,c.5406+29G>A,intron_variant,,,,1,628424,0.0000015912823189438977,0,0,,,0.219,,0.00,0.0800,-1.37,,,0,17688,0,0,0,43668,0,0,0,20968,0,0,0,36068,0,0,0,53116,0,0,0,4146,0,0,0,350004,0,0,,,,,1,69678,0,0,0,33088,0,0 +17-43049093-C-T,17,43049093,rs1567758831,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+28G>A,,c.5406+28G>A,intron_variant,,,,1,1450008,6.896513674407314e-7,0,0,,,4.08,,0.00,0.0400,0.592,,,0,33208,0,0,1,44642,0,0,0,26074,0,0,0,39628,0,0,0,53394,0,0,0,5744,0,0,0,1101340,0,0,,,,,0,85956,0,0,0,60022,0,0 +17-43049093-C-A,17,43049093,rs1567758831,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+28G>T,,c.5406+28G>T,intron_variant,,,,1,1450008,6.896513674407314e-7,0,0,,,3.33,,0.00,-0.0100,0.592,,,1,33208,0,0,0,44642,0,0,0,26074,0,0,0,39628,0,0,0,53394,0,0,0,5744,0,0,0,1101340,0,0,,,,,0,85956,0,0,0,60022,0,0 +17-43049093-CCTCT-C,17,43049093,rs766938984,CCTCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+24_5406+27del,,c.5406+24_5406+27del,intron_variant,Likely benign,372075,,36,1602204,0.00002246904888516069,0,0,afr,0.00032234,2.75,,0.00,0.0100,0.592,,,33,74756,0,0,0,59922,0,0,0,29542,0,0,0,44810,0,0,0,63998,0,0,0,6038,0,0,3,1169330,0,0,0,910,0,0,0,90768,0,0,0,62130,0,0 +17-43049094-C-T,17,43049094,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+27G>A,,c.5406+27G>A,intron_variant,,,,1,1453026,6.88218930700483e-7,0,0,,,3.34,,0.0100,0.120,0.511,,,0,33248,0,0,0,44648,0,0,0,26084,0,0,0,39648,0,0,0,53398,0,0,0,5752,0,0,1,1104092,0,0,,,,,0,86018,0,0,0,60138,0,0 +17-43049094-C-A,17,43049094,rs1296032988,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+27G>T,,c.5406+27G>T,intron_variant,,,,1,1453026,6.88218930700483e-7,0,0,,,2.44,,0.00,0.110,0.511,,,0,33248,0,0,0,44648,0,0,1,26084,0,0,0,39648,0,0,0,53398,0,0,0,5752,0,0,0,1104092,0,0,,,,,0,86018,0,0,0,60138,0,0 +17-43049095-T-A,17,43049095,rs2152905591,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+26A>T,,c.5406+26A>T,intron_variant,,,,5,1455254,0.000003435826323102359,0,0,sas,0.00000926,1.10,,0.00,0.00,0.0610,,,0,33292,0,0,0,44668,0,0,0,26094,0,0,0,39662,0,0,0,53394,0,0,0,5756,0,0,0,1106136,0,0,,,,,3,86056,0,0,2,60196,0,0 +17-43049096-C-G,17,43049096,rs2051067487,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+25G>C,,c.5406+25G>C,intron_variant,,,,5,1456178,0.0000034336461613896103,0,0,sas,0.00000926,4.37,,0.00,-0.0100,-0.0780,,,0,33308,0,0,0,44670,0,0,0,26098,0,0,0,39664,0,0,0,53398,0,0,0,5758,0,0,0,1106998,0,0,,,,,3,86074,0,0,2,60210,0,0 +17-43049096-C-T,17,43049096,rs2051067487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+25G>A,,c.5406+25G>A,intron_variant,,,,3,1456178,0.0000020601876968337663,0,0,nfe,2.999999999999999e-7,4.86,,0.00,0.00,-0.0780,,,0,33308,0,0,1,44670,0,0,0,26098,0,0,0,39664,0,0,0,53398,0,0,0,5758,0,0,2,1106998,0,0,,,,,0,86074,0,0,0,60210,0,0 +17-43049098-C-A,17,43049098,rs2051067759,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+23G>T,,c.5406+23G>T,intron_variant,,,,1,1456982,6.863502774914172e-7,0,0,,,2.67,,0.00,0.0300,0.0920,,,0,33358,0,0,0,44678,0,0,0,26102,0,0,0,39668,0,0,0,53394,0,0,0,5756,0,0,0,1107646,0,0,,,,,1,86106,0,0,0,60274,0,0 +17-43049098-C-CT,17,43049098,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+22dup,,c.5406+22dup,intron_variant,,,,1,1456982,6.863502774914172e-7,0,0,,,2.24,,0.00,0.0100,0.0920,,,0,33358,0,0,0,44678,0,0,0,26102,0,0,0,39668,0,0,0,53394,0,0,0,5756,0,0,1,1107646,0,0,,,,,0,86106,0,0,0,60274,0,0 +17-43049100-G-A,17,43049100,rs754884276,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+21C>T,,c.5406+21C>T,intron_variant,,,,2,1457766,0.0000013719623039637362,0,0,,,2.04,,0.00,0.00,-0.211,,,0,33364,0,0,0,44686,0,0,0,26110,0,0,1,39678,0,0,0,53402,0,0,0,5758,0,0,1,1108364,0,0,,,,,0,86128,0,0,0,60276,0,0 +17-43049104-G-A,17,43049104,rs1057522773,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+17C>T,,c.5406+17C>T,intron_variant,Likely benign,387372,,2,628674,0.0000031812990516547526,0,0,amr,0.000007580000000000001,9.45,,0.00,0.00,0.256,,,0,17694,0,0,2,43718,0,0,0,20976,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69766,0,0,0,33098,0,0 +17-43049105-G-A,17,43049105,rs778962676,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+16C>T,,c.5406+16C>T,intron_variant,not provided,865445,,2,1459234,0.0000013705820999236585,0,0,nfe,2.999999999999999e-7,6.68,,0.00,0.0100,1.37,,,0,33404,0,0,0,44702,0,0,0,26110,0,0,0,39688,0,0,0,53406,0,0,0,5766,0,0,2,1109680,0,0,,,,,0,86164,0,0,0,60314,0,0 +17-43049106-G-A,17,43049106,rs1057522056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+15C>T,,c.5406+15C>T,intron_variant,Likely benign,1121252,,1,830974,0.000001203407086142286,0,0,,,7.99,,0.00,0.0100,0.601,,,0,15724,0,0,0,978,0,0,0,5136,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,759984,0,0,,,,,1,16404,0,0,0,27226,0,0 +17-43049107-C-T,17,43049107,rs1208169773,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+14G>A,,c.5406+14G>A,intron_variant,Likely benign,868445,,1,1459912,6.849727928806668e-7,0,0,,,6.83,,0.00,0.0200,0.272,,,0,33424,0,0,0,44702,0,0,0,26110,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,1,1110286,0,0,,,,,0,86180,0,0,0,60338,0,0 +17-43049110-C-A,17,43049110,rs892136580,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+11G>T,,c.5406+11G>T,intron_variant,Likely benign,491174,,2,780818,0.000002561416360790863,0,0,,,2.49,,0.00,0.0200,0.276,,,2,59098,0,0,0,59000,0,0,0,24452,0,0,0,41264,0,0,0,63734,0,0,0,4464,0,0,0,418108,0,0,0,912,0,0,0,74606,0,0,0,35180,0,0 +17-43049111-C-T,17,43049111,rs2051069733,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+10G>A,,c.5406+10G>A,intron_variant,Likely benign,868060,,2,831914,0.000002404094654014718,0,0,afr,0.00002198,0.688,,0.00,-0.0500,0.0500,,,2,15740,0,0,0,978,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,0,760842,0,0,,,,,0,16434,0,0,0,27260,0,0 +17-43049112-A-G,17,43049112,rs80358040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+9T>C,,c.5406+9T>C,intron_variant,Conflicting interpretations of pathogenicity,125844,,2,1460778,0.0000013691334343753808,0,0,,,6.50,,0.00,0.0200,-0.201,,,1,33444,0,0,0,44714,0,0,0,26124,0,0,0,39694,0,0,0,53416,0,0,0,5766,0,0,1,1111038,0,0,,,,,0,86220,0,0,0,60362,0,0 +17-43049113-A-G,17,43049113,rs55946644,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5406+8T>C,,c.5406+8T>C,splice_region_variant,Benign,125843,,1380,1613446,0.0008553121703484344,17,0,afr,0.014644939999999999,2.40,,0.00,0.0200,1.58,,,1154,75020,16,0,101,60002,1,0,0,29594,0,0,0,44884,0,0,0,64030,0,0,8,6062,0,0,15,1179410,0,0,0,912,0,0,5,91048,0,0,97,62484,0,0 +17-43049114-T-C,17,43049114,rs397509280,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+7A>G,,c.5406+7A>G,splice_region_variant,Likely benign,55566,,4,1460944,0.000002737955732731713,0,0,nfe,2.999999999999999e-7,0.298,,0.0100,-0.110,-1.26,,,0,33448,0,0,0,44716,0,0,0,26124,0,0,1,39692,0,0,0,53416,0,0,0,5766,0,0,2,1111182,0,0,,,,,0,86234,0,0,1,60366,0,0 +17-43049115-A-T,17,43049115,rs1555575074,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+6T>A,,c.5406+6T>A,intron_variant,Uncertain significance,462673,,1,832264,0.0000012015418184614497,0,0,,,17.1,,0.410,-0.740,0.199,,,0,15762,0,0,0,980,0,0,0,5144,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761146,0,0,,,,,0,16442,0,0,0,27268,0,0 +17-43049116-C-A,17,43049116,rs80358073,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5406+5G>T,,c.5406+5G>T,intron_variant,Conflicting interpretations of pathogenicity,37667,,1,152156,0.0000065722022135177055,0,0,,,24.2,,0.920,-0.840,5.99,,,1,41440,0,0,0,15278,0,0,0,3472,0,0,0,5204,0,0,0,10612,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43049120-C-T,17,43049120,rs80358028,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5406+1G>A,,c.5406+1G>A,splice_donor_variant,Pathogenic,37666,,1,832612,0.000001201039619894981,0,0,,,33.0,,0.990,-0.850,7.12,,,0,15770,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761462,0,0,,,,,0,16448,0,0,0,27278,0,0 +17-43049121-T-G,17,43049121,rs879255493,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1802Thr,p.Thr1802Thr,c.5406A>C,splice_region_variant,Likely benign,252887,,3,1461438,0.0000020527726800589557,0,0,nfe,7.200000000000001e-7,5.17,,0.00,0.0200,0.226,,,0,33468,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,3,1111606,0,0,,,,,0,86242,0,0,0,60384,0,0 +17-43049122-G-A,17,43049122,rs2051072173,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1802Ile,p.Thr1802Ile,c.5405C>T,missense_variant,Conflicting interpretations of pathogenicity,868055,,1,628770,0.000001590406666984748,0,0,,,20.6,0.485,0.00,-0.0300,0.573,0.0100,0.0570,0,17694,0,0,0,43734,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43049125-C-T,17,43049125,rs531210457,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1801Asp,p.Gly1801Asp,c.5402G>A,missense_variant,Benign/Likely benign,142834,,19,1613860,0.00001177301624676242,0,0,sas,0.00012718999999999998,12.8,0.443,0.00,0.00,0.430,0.500,0.00300,0,75004,0,0,1,60008,0,0,0,29600,0,0,0,44882,0,0,0,64022,0,0,0,6062,0,0,0,1179814,0,0,0,912,0,0,18,91062,0,0,0,62494,0,0 +17-43049129-G-A,17,43049129,rs2051074344,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1800Phe,p.Leu1800Phe,c.5398C>T,missense_variant,Likely benign,865418,,1,832960,0.000001200537840952747,0,0,,,10.9,0.499,0.00,0.00,-0.626,0.470,0.00100,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761768,0,0,,,,,0,16456,0,0,0,27294,0,0 +17-43049130-G-A,17,43049130,rs1131692096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1799Thr,p.Thr1799Thr,c.5397C>T,synonymous_variant,Likely benign,427287,,1,832988,0.000001200497486158264,0,0,,,4.95,,0.00,0.0100,0.270,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761790,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43049131-G-A,17,43049131,rs786201945,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1799Ile,p.Thr1799Ile,c.5396C>T,missense_variant,Conflicting interpretations of pathogenicity,185124,,2,628774,0.0000031807930989512924,0,0,,,25.3,0.595,0.00,0.00,3.99,0.0100,0.0250,0,17694,0,0,0,43738,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049133-G-A,17,43049133,rs777371808,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1798Phe,p.Phe1798Phe,c.5394C>T,synonymous_variant,Likely benign,427362,,2,628774,0.0000031807930989512924,0,0,,,10.7,,0.00,-0.0200,1.98,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,1,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43049135-AT-A,17,43049135,rs774988515,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1798SerfsTer36,p.Phe1798SerfsTer36,c.5391del,frameshift_variant,Pathogenic,254469,,1,628778,0.0000015903864320952704,0,0,,,24.1,,0.00,-0.0100,0.754,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049137-G-T,17,43049137,rs879255492,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1797Ter,p.Ser1797Ter,c.5390C>A,stop_gained,Pathogenic,491173,,1,152176,0.00000657133845021554,0,0,,,37.0,,0.0100,-0.160,0.708,,,0,41448,0,0,0,15274,0,0,0,3472,0,0,0,5198,0,0,0,10606,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,1,4826,0,0,0,2092,0,0 +17-43049139-T-C,17,43049139,rs373810778,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1796Ser,p.Ser1796Ser,c.5388A>G,synonymous_variant,Likely benign,184087,,4,781062,0.000005121232373358325,0,0,,,4.55,,0.00,0.00,-5.45,,,0,59264,0,0,0,59030,0,0,0,24456,0,0,1,41254,0,0,0,63760,0,0,0,4442,0,0,0,418110,0,0,0,912,0,0,2,74624,0,0,1,35210,0,0 +17-43049144-G-A,17,43049144,rs878854958,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1795Phe,p.Leu1795Phe,c.5383C>T,missense_variant,Conflicting interpretations of pathogenicity,240821,,2,628776,0.0000031807829815387355,0,0,,,19.4,0.465,0.00,0.0100,1.98,0.160,0.698,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43049145-C-G,17,43049145,rs397509275,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Asp,p.Glu1794Asp,c.5382G>C,missense_variant,Likely benign,439444,,10,1461844,0.000006840675202005139,0,0,nfe,0.00000455,17.8,0.521,0.00,0.00,-0.508,0.0500,0.0460,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,10,1111964,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43049145-C-T,17,43049145,rs397509275,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Glu,p.Glu1794Glu,c.5382G>A,synonymous_variant,Conflicting interpretations of pathogenicity,795118,,11,1461846,0.000007524732427355549,0,0,nfe,0.00000455,6.04,,0.00,-0.0100,-0.508,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,10,1111966,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43049146-T-C,17,43049146,rs2051080642,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Gly,p.Glu1794Gly,c.5381A>G,missense_variant,not provided,865680,,1,628778,0.0000015903864320952704,0,0,,,28.8,0.665,0.00,-0.0500,2.35,0.00,0.00300,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43049147-C-T,17,43049147,rs776323117,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1794Lys,p.Glu1794Lys,c.5380G>A,missense_variant,Conflicting interpretations of pathogenicity,865677,,1,628782,0.0000015903763148436182,0,0,,,23.7,0.530,0.00,0.00,3.54,0.0700,0.131,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43049148-C-T,17,43049148,rs1367255905,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1793Lys,p.Lys1793Lys,c.5379G>A,synonymous_variant,Likely benign,865398,,1,152140,0.000006572893387669252,0,0,,,8.87,,0.00,-0.0300,2.44,,,0,41432,0,0,0,15250,0,0,0,3472,0,0,1,5198,0,0,0,10618,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 +17-43049152-A-G,17,43049152,rs2051082443,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1792Ala,p.Val1792Ala,c.5375T>C,missense_variant,not provided,868390,,1,833104,0.0000012003303309070656,0,0,,,26.8,0.780,0.00,0.00,4.71,0.00,0.196,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43049153-C-T,17,43049153,rs1555575131,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1792Met,p.Val1792Met,c.5374G>A,missense_variant,Uncertain significance,581900,,1,628780,0.0000015903813734533542,0,0,,,25.8,0.690,0.00,0.00,8.89,0.00,0.0980,0,17694,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049155-A-G,17,43049155,rs864622244,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1791Ala,p.Val1791Ala,c.5372T>C,missense_variant,Conflicting interpretations of pathogenicity,219775,,2,1461884,0.0000013680976055555708,0,0,afr,0.00000989,26.7,0.736,0.00,0.00,6.32,0.00,0.0860,2,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,0,1112002,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43049156-C-A,17,43049156,rs145758886,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1791Leu,p.Val1791Leu,c.5371G>T,missense_variant,Conflicting interpretations of pathogenicity,142002,,2,628782,0.0000031807526296872365,0,0,nfe,9.5e-7,24.8,0.639,0.00,0.00,8.89,0.00,0.0140,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049159-A-T,17,43049159,rs1567758993,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1790Thr,p.Ser1790Thr,c.5368T>A,missense_variant,not provided,865388,,1,628776,0.0000015903914907693677,0,0,,,22.8,0.463,0.00,0.00,0.502,0.130,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049160-AG-A,17,43049160,rs760188581,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789ValfsTer4,p.Ala1789ValfsTer4,c.5366del,frameshift_variant,Pathogenic,254468,,1,628778,0.0000015903864320952704,0,0,,,34.0,,0.00,-0.0300,-0.668,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43049162-C-A,17,43049162,rs80357078,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789Ser,p.Ala1789Ser,c.5365G>T,missense_variant,Conflicting interpretations of pathogenicity,55553,,15,1461880,0.000010260760117109475,0,0,nfe,0.0000081,25.1,0.734,0.00,0.00,8.89,0.00,0.536,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,15,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43049162-C-T,17,43049162,rs80357078,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1789Thr,p.Ala1789Thr,c.5365G>A,missense_variant,Conflicting interpretations of pathogenicity,55552,,1,1461880,6.840506744739651e-7,0,0,,,26.2,0.793,0.00,0.00,8.89,0.00,0.462,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43049163-A-G,17,43049163,rs2051086346,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1788Gly,p.Gly1788Gly,c.5364T>C,synonymous_variant,not provided,868378,,1,628774,0.0000015903965494756462,0,0,,,8.06,,0.00,0.00,0.554,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049164-C-T,17,43049164,rs80357069,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1788Asp,p.Gly1788Asp,c.5363G>A,missense_variant,Uncertain significance,55551,,2,1461874,0.0000013681069640748791,0,0,,,25.6,0.862,0.00,0.00,8.89,0.00,0.846,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1111996,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43049164-C-A,17,43049164,rs80357069,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1788Val,p.Gly1788Val,c.5363G>T,missense_variant,Pathogenic,37660,,1,152166,0.000006571770303484353,0,0,,,25.6,0.856,0.00,0.0100,8.89,,,0,41452,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 +17-43049170-A-T,17,43049170,rs398122697,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1786Gln,p.Leu1786Gln,c.5357T>A,missense_variant,not provided,865377,,1,833088,0.0000012003533840362603,0,0,,,27.2,0.647,0.00,0.00,6.32,0.00,0.477,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761882,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43049174-G-A,17,43049174,rs80356969,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1785Ter,p.Gln1785Ter,c.5353C>T,stop_gained,Pathogenic,55546,,1,1461842,6.840684560985387e-7,0,0,,,39.0,,0.0100,-0.0900,2.96,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43049174-GT-G,17,43049174,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1785SerfsTer8,p.Gln1785SerfsTer8,c.5352del,frameshift_variant,,,,1,1461842,6.840684560985387e-7,0,0,,,26.2,,0.00,-0.0100,2.96,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43049175-T-C,17,43049175,rs767459025,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1784Val,p.Val1784Val,c.5352A>G,synonymous_variant,Likely benign,427333,,18,1461598,0.000012315287787750121,0,0,sas,0.00013404999999999998,5.70,,0.00,0.00,0.455,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53418,0,0,0,5768,0,0,0,1111746,0,0,,,,,18,86250,0,0,0,60390,0,0 +17-43049178-C-T,17,43049178,rs587782019,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Ile,p.Met1783Ile,c.5349G>A,missense_variant,Conflicting interpretations of pathogenicity,141796,,2,985210,0.0000020300240557850612,0,0,,,22.6,0.467,0.00,-0.0200,2.95,0.00,0.0910,1,57210,0,0,0,16256,0,0,0,8624,0,0,0,8824,0,0,0,10890,0,0,0,1936,0,0,1,829884,0,0,0,910,0,0,0,21290,0,0,0,29386,0,0 +17-43049179-A-G,17,43049179,rs55808233,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Thr,p.Met1783Thr,c.5348T>C,missense_variant,Conflicting interpretations of pathogenicity,37659,,150,1614158,0.00009292770596186991,0,0,afr,0.0014276999999999998,25.2,0.625,0.00,0.00,6.32,0.00,0.921,125,75040,0,0,9,60024,0,0,0,29608,0,0,0,44886,0,0,0,64046,0,0,0,6062,0,0,0,1179990,0,0,0,912,0,0,0,91084,0,0,16,62506,0,0 +17-43049180-T-G,17,43049180,rs80357012,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1783Leu,p.Met1783Leu,c.5347A>C,missense_variant,Conflicting interpretations of pathogenicity,55545,,10,1613980,0.0000061958636414329795,0,0,eas,0.00010390999999999997,23.8,0.457,0.00,-0.0200,3.71,0.00,0.217,0,74906,0,0,0,60006,0,0,0,29608,0,0,9,44894,0,0,0,64024,0,0,0,6084,0,0,1,1179978,0,0,0,912,0,0,0,91088,0,0,0,62480,0,0 +17-43049180-T-C,17,43049180,rs80357012,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1783Val,p.Met1783Val,c.5347A>G,missense_variant,Uncertain significance,531270,,1,1461838,6.84070327902271e-7,0,0,,,24.1,0.569,0.0200,-0.0600,3.71,0.00,0.156,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111962,0,0,,,,,1,86256,0,0,0,60394,0,0 +17-43049181-C-T,17,43049181,rs80357284,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1782Ter,p.Trp1782Ter,c.5346G>A,stop_gained,Pathogenic,37658,,1,628780,0.0000015903813734533542,0,0,,,41.0,,0.0100,-0.0700,7.11,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049182-C-T,17,43049182,rs80357219,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1782Ter,p.Trp1782Ter,c.5345G>A,stop_gained,Pathogenic,55544,,2,833050,0.0000024008162775343618,0,0,nfe,4.4e-7,42.0,,0.00,-0.110,5.55,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761848,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43049184-T-G,17,43049184,rs1555575182,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1781Asp,p.Glu1781Asp,c.5343A>C,missense_variant,Conflicting interpretations of pathogenicity,489730,,19,1461806,0.000012997620751317206,0,0,nfe,0.00001093,15.8,0.527,0.00,0.00,0.236,0.00,0.867,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,19,1111936,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43049187-C-T,17,43049187,rs766700840,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1780Leu,p.Leu1780Leu,c.5340G>A,synonymous_variant,Likely benign,427323,,2,780950,0.0000025609834176323707,0,0,,,2.53,,0.0200,-0.0700,-0.291,,,1,59138,0,0,0,59018,0,0,0,24456,0,0,0,41262,0,0,1,63762,0,0,0,4464,0,0,0,418120,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 +17-43049188-A-G,17,43049188,rs80357474,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1780Pro,p.Leu1780Pro,c.5339T>C,missense_variant,Pathogenic/Likely pathogenic,55541,,2,628766,0.0000031808335692451565,0,0,eas,0.00000919,24.6,0.666,0.00,0.00,6.32,0.00,1.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43049189-G-A,17,43049189,rs1309977577,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1780Leu,p.Leu1780Leu,c.5338C>T,synonymous_variant,,,,1,628778,0.0000015903864320952704,0,0,,,4.64,,0.00,-0.0300,3.48,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43049190-T-C,17,43049190,rs876659718,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Gln,p.Gln1779Gln,c.5337A>G,synonymous_variant,Likely benign,232356,,2,832968,0.000002401052621469252,0,0,nfe,4.4e-7,1.58,,0.290,0.0700,-1.23,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761768,0,0,,,,,0,16460,0,0,0,27294,0,0 +17-43049192-G-C,17,43049192,rs397509267,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Glu,p.Gln1779Glu,c.5335C>G,missense_variant,Uncertain significance,825658,,3,1461554,0.0000020526097564646944,0,0,,,17.1,0.301,0.00,-0.0200,5.83,0.240,0.264,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111714,0,0,,,,,1,86246,0,0,1,60382,0,0 +17-43049192-G-A,17,43049192,rs397509267,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1779Ter,p.Gln1779Ter,c.5335C>T,stop_gained,Pathogenic,55540,,1,1461554,6.842032521548982e-7,0,0,,,40.0,,0.0100,-0.0700,5.83,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111714,0,0,,,,,0,86246,0,0,0,60382,0,0 +17-43049193-A-G,17,43049193,rs754152768,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1778Asp,p.Asp1778Asp,c.5334T>C,splice_region_variant,Benign/Likely benign,186289,,34,1613854,0.000021067581082303602,0,0,nfe,0.00001963,10.8,,0.00,-0.0500,2.94,,,1,74920,0,0,1,59998,0,0,0,29608,0,0,0,44896,0,0,0,64022,0,0,0,6084,0,0,32,1179852,0,0,0,912,0,0,0,91088,0,0,0,62474,0,0 +17-43049193-A-T,17,43049193,rs754152768,A,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Tyr11Ter,p.Tyr11Ter,c.33T>A,stop_gained,Uncertain significance,865356,,1,1461692,6.841386557496381e-7,0,0,,,20.7,0.527,0.00,-0.0600,2.94,0.150,0.0140,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1111824,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43049194-T-C,17,43049194,rs80357041,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1778Gly,p.Asp1778Gly,c.5333A>G,missense_variant,Conflicting interpretations of pathogenicity,55539,,11,780918,0.000014085985980602317,0,0,nfe,0.00001209,20.6,0.560,0.00,0.00,2.95,0.180,0.364,0,59122,0,0,0,59002,0,0,0,24456,0,0,0,41262,0,0,0,63754,0,0,0,4464,0,0,10,418136,0,0,0,910,0,0,0,74626,0,0,1,35186,0,0 +17-43049196-T-G,17,43049196,rs397509264,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-2A>C,,c.5333-2A>C,splice_acceptor_variant,Pathogenic,55535,,2,1461550,0.000001368410249392768,0,0,nfe,2.999999999999999e-7,32.0,,1.00,-0.850,6.35,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39700,0,0,0,53414,0,0,0,5766,0,0,2,1111698,0,0,,,,,0,86252,0,0,0,60388,0,0 +17-43049201-T-C,17,43049201,rs538969920,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-7A>G,,c.5333-7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,438940,,6,1612586,0.0000037207317935291515,0,0,afr,0.00001062,1.81,,0.00,0.00,1.06,,,3,75014,0,0,0,60006,0,0,0,29598,0,0,0,44870,0,0,0,64032,0,0,0,6062,0,0,0,1178600,0,0,0,910,0,0,0,91034,0,0,3,62460,0,0 +17-43049202-G-A,17,43049202,rs80358084,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-8C>T,,c.5333-8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,125831,,28,1611644,0.000017373563888799262,0,0,nfe,0.000013,1.78,,0.00,0.0100,-0.0160,,,0,74856,0,0,2,59980,0,0,0,29590,0,0,0,44876,0,0,0,64010,0,0,0,6084,0,0,23,1177914,0,0,0,912,0,0,0,91032,0,0,3,62390,0,0 +17-43049203-G-T,17,43049203,rs2051099141,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-9C>A,,c.5333-9C>A,intron_variant,not provided,865348,,1,830594,0.0000012039576495857182,0,0,,,1.46,,0.0100,-0.0400,1.15,,,0,15734,0,0,0,978,0,0,0,5140,0,0,0,3614,0,0,0,276,0,0,0,1620,0,0,1,759624,0,0,,,,,0,16408,0,0,0,27200,0,0 +17-43049205-C-T,17,43049205,rs1057524666,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-11G>A,,c.5333-11G>A,intron_variant,Likely benign,392864,,1,628754,0.0000015904471383084641,0,0,,,1.40,,0.00,0.00,0.847,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,1,36070,0,0,0,53136,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43049209-T-C,17,43049209,rs2051100090,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-15A>G,,c.5333-15A>G,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,0.0240,,0.00,0.00,-3.51,,,1,41452,0,0,0,15284,0,0,0,3470,0,0,0,5200,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43049212-A-T,17,43049212,rs1555575227,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-18T>A,,c.5333-18T>A,intron_variant,Likely benign,1670769,,1,628744,0.0000015904724339317751,0,0,,,9.59,,0.00,-0.0200,1.80,,,0,17694,0,0,0,43736,0,0,0,20980,0,0,0,36070,0,0,0,53130,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43049213-T-C,17,43049213,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-19A>G,,c.5333-19A>G,intron_variant,,,,4,1459050,0.0000027415098865700286,0,0,sas,0.00000385,3.96,,0.00,0.00,0.461,,,0,33410,0,0,0,44720,0,0,0,26120,0,0,0,39692,0,0,0,53400,0,0,0,5762,0,0,0,1109456,0,0,,,,,2,86178,0,0,2,60312,0,0 +17-43049219-A-C,17,43049219,rs777091166,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-25T>G,,c.5333-25T>G,intron_variant,,,,1,628670,0.0000015906596465554266,0,0,,,8.05,,0.00,-0.0300,0.281,,,0,17694,0,0,0,43730,0,0,0,20980,0,0,0,36070,0,0,0,53100,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69774,0,0,0,33098,0,0 +17-43049222-A-AT,17,43049222,,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-29_5333-28insA,,c.5333-29_5333-28insA,intron_variant,,,,1,823238,0.0000012147155500596426,0,0,,,5.43,,0.00,-0.0200,2.40,,,0,15540,0,0,0,974,0,0,0,5104,0,0,0,3590,0,0,0,272,0,0,0,1608,0,0,1,752948,0,0,,,,,0,16222,0,0,0,26980,0,0 +17-43049223-C-A,17,43049223,rs2152961601,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-29G>T,,c.5333-29G>T,intron_variant,,,,1,814922,0.0000012271113063581545,0,0,,,2.10,,0.00,0.0100,0.657,,,0,15322,0,0,0,958,0,0,0,5056,0,0,0,3546,0,0,0,266,0,0,0,1592,0,0,1,745430,0,0,,,,,0,16038,0,0,0,26714,0,0 +17-43049224-T-C,17,43049224,rs1016774811,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-30A>G,,c.5333-30A>G,intron_variant,,,,1,1443190,6.929094575211857e-7,0,0,,,0.735,,0.00,-0.0100,0.187,,,0,33000,0,0,0,44688,0,0,0,26026,0,0,0,39608,0,0,0,53316,0,0,0,5740,0,0,0,1095248,0,0,,,,,0,85766,0,0,1,59798,0,0 +17-43049225-G-C,17,43049225,rs1024465566,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-31C>G,,c.5333-31C>G,intron_variant,,,,2,1442556,0.0000013864279792257632,0,0,nfe,2.999999999999999e-7,2.74,,0.00,0.00,0.412,,,0,32992,0,0,0,44678,0,0,0,26024,0,0,0,39606,0,0,0,53304,0,0,0,5736,0,0,2,1094698,0,0,,,,,0,85760,0,0,0,59758,0,0 +17-43049226-C-T,17,43049226,rs1344773206,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-32G>A,,c.5333-32G>A,intron_variant,,,,2,152172,0.000013143022369424073,0,0,nfe,0.00000488,1.26,,0.00,0.00,-0.605,,,0,41438,0,0,0,15274,0,0,0,3472,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,2,68032,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 +17-43049229-T-G,17,43049229,rs775618857,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-35A>C,,c.5333-35A>C,intron_variant,Likely benign,491141,,5,794096,0.000006296467933348109,0,0,nfe,0.00000202,2.42,,0.00,0.00,-1.15,,,0,14884,0,0,0,906,0,0,0,4912,0,0,0,3428,0,0,0,252,0,0,0,1548,0,0,5,726560,0,0,,,,,0,15642,0,0,0,25964,0,0 +17-43049230-A-G,17,43049230,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-36T>C,,c.5333-36T>C,intron_variant,,,,1,1433778,6.974580444113384e-7,0,0,,,0.913,,0.00,0.00,-1.70,,,0,32824,0,0,0,44660,0,0,0,25962,0,0,0,39566,0,0,0,53280,0,0,0,5714,0,0,0,1086692,0,0,,,,,0,85618,0,0,1,59462,0,0 +17-43049230-A-C,17,43049230,rs1373369475,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-36T>G,,c.5333-36T>G,intron_variant,,,,1,152192,0.000006570647603027754,0,0,,,0.692,,0.00,-0.0100,-1.70,,,0,41442,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43049231-A-C,17,43049231,rs2152962868,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-37T>G,,c.5333-37T>G,intron_variant,,,,1,628446,0.0000015912266129468563,0,0,,,3.24,,0.00,0.00,0.515,,,0,17694,0,0,0,43714,0,0,0,20972,0,0,0,36070,0,0,0,53024,0,0,0,4148,0,0,1,350010,0,0,,,,,0,69722,0,0,0,33092,0,0 +17-43049233-C-T,17,43049233,rs746516195,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-39G>A,,c.5333-39G>A,intron_variant,,,,3,628310,0.000004774713119320081,0,0,sas,0.00001143,7.51,,0.00,0.00,1.72,,,0,17694,0,0,0,43696,0,0,0,20968,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,0,349986,0,0,,,,,3,69686,0,0,0,33090,0,0 +17-43049233-C-A,17,43049233,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-39G>T,,c.5333-39G>T,intron_variant,,,,1,628310,0.0000015915710397733604,0,0,,,7.24,,0.00,0.00,1.72,,,0,17694,0,0,0,43696,0,0,0,20968,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,1,349986,0,0,,,,,0,69686,0,0,0,33090,0,0 +17-43049234-T-G,17,43049234,rs369978584,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-40A>C,,c.5333-40A>C,intron_variant,Likely benign,491147,,7,1433282,0.0000048838958418510805,0,0,nfe,0.0000019900000000000004,6.08,,0.00,0.00,-0.0300,,,0,32804,0,0,0,44630,0,0,0,25950,0,0,0,39560,0,0,0,53230,0,0,0,5702,0,0,6,1086392,0,0,,,,,0,85526,0,0,1,59488,0,0 +17-43049234-TGCATACTTAACCCAG-T,17,43049234,,TGCATACTTAACCCAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-55_5333-41del,,c.5333-55_5333-41del,intron_variant,,,,1,1433282,6.976994059787258e-7,0,0,,,1.72,,0.00,-0.0500,-0.0300,,,0,32804,0,0,0,44630,0,0,0,25950,0,0,0,39560,0,0,0,53230,0,0,0,5702,0,0,1,1086392,0,0,,,,,0,85526,0,0,0,59488,0,0 +17-43049235-G-A,17,43049235,rs1177187843,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-41C>T,,c.5333-41C>T,intron_variant,Likely benign,918345,,2,1429168,0.0000013994156040437513,0,0,,,1.93,,0.00,0.00,-0.369,,,0,32700,0,0,1,44610,0,0,0,25934,0,0,0,39548,0,0,0,53120,0,0,0,5702,0,0,1,1082784,0,0,,,,,0,85422,0,0,0,59348,0,0 +17-43049236-C-A,17,43049236,rs1387393156,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-42G>T,,c.5333-42G>T,intron_variant,,,,3,1423922,0.000002106856976716421,0,0,nfe,7.399999999999999e-7,2.17,,0.00,0.00,0.104,,,0,32594,0,0,0,44586,0,0,0,25902,0,0,0,39518,0,0,0,53122,0,0,0,5690,0,0,3,1078040,0,0,,,,,0,85300,0,0,0,59170,0,0 +17-43049237-A-G,17,43049237,rs1405607243,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-43T>C,,c.5333-43T>C,intron_variant,,,,5,628146,0.000007959932881845941,0,0,,,3.70,,0.00,0.00,0.228,,,0,17694,0,0,0,43678,0,0,0,20966,0,0,0,36066,0,0,4,52916,0,0,0,4148,0,0,0,349944,0,0,,,,,0,69644,0,0,1,33090,0,0 +17-43049238-T-C,17,43049238,rs971529039,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-44A>G,,c.5333-44A>G,intron_variant,Likely benign,918448,,3,1567810,0.0000019134971712133485,0,0,afr,0.00001078,0.220,,0.00,0.00,-0.846,,,3,73878,0,0,0,59862,0,0,0,29314,0,0,0,44666,0,0,0,63756,0,0,0,5990,0,0,0,1138522,0,0,0,912,0,0,0,89970,0,0,0,60940,0,0 +17-43049238-T-A,17,43049238,rs971529039,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-44A>T,,c.5333-44A>T,intron_variant,,,,6,1567810,0.000003826994342426697,0,0,nfe,0.0000019000000000000002,0.195,,0.00,0.00,-0.846,,,0,73878,0,0,0,59862,0,0,0,29314,0,0,0,44666,0,0,0,63756,0,0,0,5990,0,0,6,1138522,0,0,0,912,0,0,0,89970,0,0,0,60940,0,0 +17-43049243-A-G,17,43049243,rs1247333490,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-49T>C,,c.5333-49T>C,intron_variant,Likely benign,491163,,1,152130,0.0000065733254453427986,0,0,,,0.728,,0.00,-0.0100,0.120,,,0,41418,0,0,0,15264,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 +17-43049243-A-C,17,43049243,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-49T>G,,c.5333-49T>G,intron_variant,,,,1,627468,0.0000015937067707038447,0,0,,,0.479,,0.00,0.00,0.120,,,1,17692,0,0,0,43614,0,0,0,20940,0,0,0,36062,0,0,0,52680,0,0,0,4148,0,0,0,349734,0,0,,,,,0,69516,0,0,0,33082,0,0 +17-43049244-A-AC,17,43049244,rs753156283,A,AC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-51dup,,c.5333-51dup,intron_variant,,,,8,1387836,0.00000576436985349854,0,0,nfe,0.0000027800000000000005,1.07,,0.0100,0.0100,0.0510,,,0,31832,0,0,0,44474,0,0,0,25624,0,0,0,39328,0,0,0,52842,0,0,0,5626,0,0,7,1045590,0,0,,,,,0,84494,0,0,1,58026,0,0 +17-43049246-C-G,17,43049246,rs1205734172,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-52G>C,,c.5333-52G>C,intron_variant,Likely benign,629031,,19,1528888,0.000012427332806588841,0,0,nfe,0.00001101,2.03,,0.00,-0.0200,0.632,,,0,73010,0,0,0,59672,0,0,0,28986,0,0,0,44478,0,0,0,63340,0,0,0,5918,0,0,19,1103794,0,0,0,910,0,0,0,89062,0,0,0,59718,0,0 +17-43049247-C-T,17,43049247,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-53G>A,,c.5333-53G>A,intron_variant,,,,2,748366,0.000002672489129650465,0,0,nfe,4.9e-7,0.609,,0.00,-0.0100,-1.08,,,0,13876,0,0,0,866,0,0,0,4568,0,0,0,3232,0,0,0,240,0,0,0,1456,0,0,2,684830,0,0,,,,,0,14786,0,0,0,24512,0,0 +17-43049249-G-T,17,43049249,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-55C>A,,c.5333-55C>A,intron_variant,,,,1,1359132,7.35763708013644e-7,0,0,,,0.708,,0.00,0.00,-0.605,,,0,31268,0,0,0,44340,0,0,0,25368,0,0,0,39174,0,0,1,52518,0,0,0,5570,0,0,0,1019994,0,0,,,,,0,83822,0,0,0,57078,0,0 +17-43049252-C-T,17,43049252,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-58G>A,,c.5333-58G>A,intron_variant,,,,1,1337002,7.479420374838631e-7,0,0,,,4.41,,0.00,-0.0100,0.109,,,0,30836,0,0,0,44252,0,0,0,25236,0,0,0,39052,0,0,0,52412,0,0,0,5552,0,0,1,1000042,0,0,,,,,0,83268,0,0,0,56352,0,0 +17-43049252-C-A,17,43049252,rs547593667,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-58G>T,,c.5333-58G>T,intron_variant,Likely benign,927109,,1,152216,0.0000065696116045619385,0,0,,,3.71,,0.00,-0.0100,0.109,,,0,41546,0,0,1,15280,0,0,0,3470,0,0,0,5174,0,0,0,10612,0,0,0,294,0,0,0,68006,0,0,0,912,0,0,0,4812,0,0,0,2110,0,0 +17-43049257-A-C,17,43049257,rs763180418,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-63T>G,,c.5333-63T>G,intron_variant,,,,3,1285336,0.000002334020053900303,0,0,nfe,8.4e-7,1.84,,0.00,0.00,-0.266,,,0,29810,0,0,0,43886,0,0,0,24888,0,0,0,38808,0,0,0,52012,0,0,0,5470,0,0,3,953848,0,0,,,,,0,81982,0,0,0,54632,0,0 +17-43049257-A-G,17,43049257,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-63T>C,,c.5333-63T>C,intron_variant,,,,2,1285336,0.0000015560133692668686,0,0,nfe,3.5000000000000004e-7,2.16,,0.00,-0.0100,-0.266,,,0,29810,0,0,0,43886,0,0,0,24888,0,0,0,38808,0,0,0,52012,0,0,0,5470,0,0,2,953848,0,0,,,,,0,81982,0,0,0,54632,0,0 +17-43049258-C-T,17,43049258,rs2051103466,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-64G>A,,c.5333-64G>A,intron_variant,,,,4,1282352,0.0000031192683444171335,0,0,nfe,9.799999999999997e-7,0.363,,0.00,-0.0100,0.151,,,0,29736,0,0,0,43922,0,0,0,24890,0,0,0,38810,0,0,0,51978,0,0,0,5450,0,0,4,951070,0,0,,,,,0,81934,0,0,0,54562,0,0 +17-43049259-C-T,17,43049259,rs1555575250,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-65G>A,,c.5333-65G>A,intron_variant,Likely benign,491169,,5,796790,0.000006275179156364914,0,0,afr,0.00000623,3.31,,0.00,-0.0100,-0.165,,,2,53202,0,0,0,15998,0,0,0,7392,0,0,0,7898,0,0,0,10812,0,0,0,1600,0,0,3,658252,0,0,0,912,0,0,0,17504,0,0,0,23220,0,0 +17-43049260-C-G,17,43049260,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-66G>C,,c.5333-66G>C,intron_variant,,,,1,1267398,7.890181300585924e-7,0,0,,,2.02,,0.00,-0.0100,0.304,,,1,29450,0,0,0,43624,0,0,0,24738,0,0,0,38714,0,0,0,51542,0,0,0,5424,0,0,0,938340,0,0,,,,,0,81438,0,0,0,54128,0,0 +17-43049262-A-T,17,43049262,rs1567759289,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-68T>A,,c.5333-68T>A,intron_variant,,,,1,621866,0.0000016080634734814252,0,0,,,1.14,,0.00,0.00,-0.729,,,0,17650,0,0,0,42816,0,0,0,20796,0,0,0,36022,0,0,0,51292,0,0,0,4146,0,0,1,347464,0,0,,,,,0,68726,0,0,0,32954,0,0 +17-43049264-ACT-A,17,43049264,rs1418295859,ACT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-72_5333-71del,,c.5333-72_5333-71del,intron_variant,Likely benign,491170,,5,1388128,0.0000036019733050554417,0,0,nfe,9.6e-7,0.955,,0.00,-0.0100,-0.368,,,0,70244,0,0,0,58506,0,0,0,27972,0,0,0,43782,0,0,0,61746,0,0,0,5688,0,0,4,978608,0,0,0,910,0,0,0,85496,0,0,1,55176,0,0 +17-43049265-C-A,17,43049265,rs2152967698,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-71G>T,,c.5333-71G>T,intron_variant,,,,1,620228,0.0000016123103116918294,0,0,,,0.776,,0.00,0.00,0.133,,,0,17638,0,0,0,42552,0,0,0,20768,0,0,0,36012,0,0,0,50924,0,0,0,4142,0,0,0,346768,0,0,,,,,1,68510,0,0,0,32914,0,0 +17-43049267-C-G,17,43049267,rs2051104332,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>C,,c.5333-73G>C,intron_variant,Likely benign,926691,,1,1211118,8.256833768468473e-7,0,0,,,2.69,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,0,38480,0,0,0,50862,0,0,0,5328,0,0,0,888418,0,0,,,,,1,79906,0,0,0,52344,0,0 +17-43049267-C-A,17,43049267,rs2051104332,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>T,,c.5333-73G>T,intron_variant,,,,2,1211118,0.0000016513667536936945,0,0,,,2.43,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,1,38480,0,0,0,50862,0,0,0,5328,0,0,1,888418,0,0,,,,,0,79906,0,0,0,52344,0,0 +17-43049267-C-T,17,43049267,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-73G>A,,c.5333-73G>A,intron_variant,,,,1,1211118,8.256833768468473e-7,0,0,,,3.07,,0.00,0.00,0.681,,,0,28392,0,0,0,43030,0,0,0,24358,0,0,0,38480,0,0,0,50862,0,0,0,5328,0,0,1,888418,0,0,,,,,0,79906,0,0,0,52344,0,0 +17-43049987-A-T,17,43049987,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-793T>A,,c.5333-793T>A,intron_variant,,,,1,246142,0.000004062695517221767,0,0,,,13.3,,0.0700,0.0600,0.271,,,0,7178,0,0,0,7432,0,0,0,9234,0,0,1,22884,0,0,0,20794,0,0,0,1292,0,0,0,157932,0,0,,,,,0,3030,0,0,0,16366,0,0 +17-43049990-T-A,17,43049990,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-796A>T,,c.5333-796A>T,intron_variant,,,,1,246138,0.000004062761540274155,0,0,,,8.07,,0.0100,0.00,0.272,,,0,7176,0,0,1,7432,0,0,0,9236,0,0,0,22884,0,0,0,20796,0,0,0,1292,0,0,0,157928,0,0,,,,,0,3030,0,0,0,16364,0,0 +17-43049995-G-C,17,43049995,rs1377310040,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-801C>G,,c.5333-801C>G,intron_variant,,,,1,152178,0.000006571252086372537,0,0,,,14.7,,0.0100,0.0100,0.337,,,1,41442,0,0,0,15268,0,0,0,3466,0,0,0,5200,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43049996-A-G,17,43049996,rs1283769880,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-802T>C,,c.5333-802T>C,intron_variant,,,,1,152210,0.000006569870573549701,0,0,,,15.2,,0.00,0.00,0.271,,,0,41444,0,0,1,15276,0,0,0,3470,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43049997-G-A,17,43049997,rs1410863353,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-803C>T,,c.5333-803C>T,intron_variant,,,,1,246168,0.000004062266419680868,0,0,,,16.2,,0.0100,0.0100,0.337,,,0,7178,0,0,1,7432,0,0,0,9236,0,0,0,22886,0,0,0,20806,0,0,0,1292,0,0,0,157940,0,0,,,,,0,3030,0,0,0,16368,0,0 +17-43050003-C-G,17,43050003,rs2051140009,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-809G>C,,c.5333-809G>C,intron_variant,,,,2,398340,0.000005020836471356128,0,0,,,11.1,,0.0100,0.0100,0.340,,,0,48610,0,0,0,22698,0,0,0,12704,0,0,0,28082,0,0,1,31418,0,0,0,1608,0,0,1,225982,0,0,0,912,0,0,0,7864,0,0,0,18462,0,0 +17-43050010-A-G,17,43050010,rs2051140503,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-816T>C,,c.5333-816T>C,intron_variant,,,,1,152212,0.000006569784248285286,0,0,,,13.2,,0.00,0.0100,0.271,,,0,41448,0,0,0,15270,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43050016-T-C,17,43050016,rs2051140746,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-822A>G,,c.5333-822A>G,intron_variant,,,,4,398368,0.000010040967145955499,0,0,nfe,0.00000353,16.9,,0.00,0.00,0.272,,,0,48600,0,0,1,22688,0,0,0,12708,0,0,0,28096,0,0,0,31428,0,0,0,1610,0,0,3,226018,0,0,0,912,0,0,0,7852,0,0,0,18456,0,0 +17-43050019-A-C,17,43050019,rs1429740665,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-825T>G,,c.5333-825T>G,intron_variant,,,,4,398494,0.000010037792287964186,0,0,nfe,0.00000514,16.3,,0.0100,0.0100,0.271,,,0,48632,0,0,0,22700,0,0,0,12708,0,0,0,28098,0,0,0,31444,0,0,0,1608,0,0,4,226068,0,0,0,912,0,0,0,7862,0,0,0,18462,0,0 +17-43050020-A-T,17,43050020,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-826T>A,,c.5333-826T>A,intron_variant,,,,5,246272,0.00002030275467775468,0,0,nfe,0.0000021000000000000002,13.7,,0.00,0.0100,0.271,,,0,7180,0,0,0,7434,0,0,0,9238,0,0,0,22890,0,0,3,20820,0,0,0,1294,0,0,2,158016,0,0,,,,,0,3032,0,0,0,16368,0,0 +17-43050025-A-G,17,43050025,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-831T>C,,c.5333-831T>C,intron_variant,,,,1,246288,0.000004060287143506789,0,0,,,16.4,,0.00,0.0100,0.271,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22892,0,0,0,20820,0,0,0,1294,0,0,1,158026,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050026-A-G,17,43050026,rs869312514,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-832T>C,,c.5333-832T>C,intron_variant,Likely benign,223561,,4,398642,0.000010034065652891566,0,0,,,15.3,,0.00,0.0100,0.271,,,0,48758,0,0,0,22724,0,0,0,12712,0,0,1,28078,0,0,1,31440,0,0,0,1588,0,0,1,226082,0,0,0,912,0,0,0,7866,0,0,1,18482,0,0 +17-43050028-T-A,17,43050028,rs1265220829,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-834A>T,,c.5333-834A>T,intron_variant,,,,3,398550,0.0000075272864132480244,0,0,afr,0.00001633,11.6,,0.0200,0.0100,0.272,,,3,48720,0,0,0,22720,0,0,0,12712,0,0,0,28076,0,0,0,31424,0,0,0,1588,0,0,0,226054,0,0,0,912,0,0,0,7860,0,0,0,18484,0,0 +17-43050032-A-G,17,43050032,rs1166346080,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-838T>C,,c.5333-838T>C,intron_variant,,,,1,152200,0.00000657030223390276,0,0,,,10.4,,0.00,0.00,-0.722,,,0,41446,0,0,1,15274,0,0,0,3468,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43050037-A-G,17,43050037,rs1421517134,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5333-843T>C,,c.5333-843T>C,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,8.10,,0.00,0.00,0.271,,,0,41466,0,0,1,15268,0,0,0,3470,0,0,0,5202,0,0,0,10630,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43050038-TAA-T,17,43050038,,TAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-846_5333-845del,,c.5333-846_5333-845del,intron_variant,,,,1,246304,0.000004060023385734702,0,0,,,8.39,,0.00,0.00,0.272,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050038-T-G,17,43050038,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-844A>C,,c.5333-844A>C,intron_variant,,,,1,246304,0.000004060023385734702,0,0,,,8.83,,0.0100,0.0100,0.272,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050041-A-G,17,43050041,rs1412646437,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-847T>C,,c.5333-847T>C,intron_variant,,,,2,398534,0.000005018392408175965,0,0,,,9.67,,0.00,0.00,0.257,,,0,48652,0,0,0,22714,0,0,0,12710,0,0,0,28094,0,0,0,31442,0,0,0,1610,0,0,2,226082,0,0,0,912,0,0,0,7856,0,0,0,18462,0,0 +17-43050044-G-A,17,43050044,rs987100397,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-850C>T,,c.5333-850C>T,intron_variant,,,,8,398472,0.000020076692967134452,0,0,nfe,0.000013860000000000001,13.9,,0.0400,0.0500,0.337,,,0,48624,0,0,1,22698,0,0,0,12710,0,0,0,28092,0,0,0,31432,0,0,0,1610,0,0,7,226078,0,0,0,912,0,0,0,7860,0,0,0,18456,0,0 +17-43050045-G-A,17,43050045,rs910797697,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-851C>T,,c.5333-851C>T,intron_variant,,,,12,398456,0.000030116248720059428,0,0,nfe,0.000030269999999999996,15.8,,0.0300,0.0800,1.31,,,0,48622,0,0,0,22712,0,0,0,12708,0,0,0,28092,0,0,0,31426,0,0,0,1610,0,0,12,226062,0,0,0,912,0,0,0,7854,0,0,0,18458,0,0 +17-43050047-T-A,17,43050047,rs879684388,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5333-853A>T,,c.5333-853A>T,intron_variant,,,,20,398472,0.00005019173241783613,0,0,nfe,0.00005069,11.8,,0.0100,0.0300,0.272,,,1,48632,0,0,1,22696,0,0,0,12708,0,0,0,28094,0,0,0,31422,0,0,0,1610,0,0,18,226078,0,0,0,910,0,0,0,7860,0,0,0,18462,0,0 +17-43050052-A-G,17,43050052,rs866206672,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5333-858T>C,,c.5333-858T>C,intron_variant,,,,1,246302,0.000004060056353582188,0,0,,,7.89,,0.0300,0.00,0.126,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20820,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050061-C-CCATCCTCTTTATTAGTTATCA,17,43050061,,C,CCATCCTCTTTATTAGTTATCA,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Tyr11delinsLeuIleThrAsnLysGluAspAsp,p.Tyr11delinsLeuIleThrAsnLysGluAspAsp,c.31_31+1insTGATAACTAATAAAGAGGATG,protein_altering_variant,,,,1,246310,0.000004059924485404571,0,0,,,3.24,,0.350,0.350,-1.24,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050061-C-T,17,43050061,rs2051142722,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.31+1G>A,,c.31+1G>A,splice_donor_variant,,,,2,246310,0.000008119848970809143,0,0,,,4.04,,0.00,0.0100,-1.24,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20824,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,1,16370,0,0 +17-43050063-T-C,17,43050063,,T,C,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Gln10Gln,p.Gln10Gln,c.30A>G,splice_region_variant,Likely benign,1879372,,1,246302,0.000004060056353582188,0,0,,,6.43,,0.00,0.00,-1.10,,,0,7178,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158036,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050066-C-G,17,43050066,,C,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Leu9Leu,p.Leu9Leu,c.27G>C,synonymous_variant,,,,1,246314,0.00000405985855452796,0,0,,,7.12,,0.00,0.00,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,1,158044,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050066-C-T,17,43050066,rs2051142853,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Leu9Leu,p.Leu9Leu,c.27G>A,synonymous_variant,,,,1,246314,0.00000405985855452796,0,0,,,6.39,,0.0200,0.0200,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20826,0,0,0,1294,0,0,0,158044,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050068-G-GAAATTT,17,43050068,,G,GAAATTT,gnomAD Exomes,PASS,NA,ENST00000591849.5,p.Trp8_Leu9insLysPhe,p.Trp8_Leu9insLysPhe,c.24_25insAAATTT,inframe_insertion,,,,1,246308,0.000004059957451645907,0,0,,,0.675,,0.0200,0.0900,0.337,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050082-C-T,17,43050082,rs1490512430,C,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,p.Ser4Asn,p.Ser4Asn,c.11G>A,missense_variant,,,,1,152192,0.000006570647603027754,0,0,,,7.24,,0.0400,0.0500,0.545,,,0,41440,0,0,1,15266,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43050089-T-G,17,43050089,rs1267110099,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,p.Ser2Arg,p.Ser2Arg,c.4A>C,missense_variant,,,,2,398524,0.000005018518332647469,0,0,,,9.28,,0.0800,0.00,0.865,,,0,48628,0,0,0,22698,0,0,0,12708,0,0,0,28100,0,0,1,31444,0,0,0,1610,0,0,1,226092,0,0,0,912,0,0,0,7866,0,0,0,18466,0,0 +17-43050091-A-G,17,43050091,rs2051143369,A,G,gnomAD Genomes,NA,PASS,ENST00000591849.5,p.Met1?,p.Met1?,c.2T>C,start_lost,,,,1,152204,0.000006570129562954982,0,0,,,9.72,,0.130,0.0800,-0.300,,,0,41454,0,0,0,15262,0,0,0,3470,0,0,0,5202,0,0,0,10626,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,1,4836,0,0,0,2094,0,0 +17-43050097-C-T,17,43050097,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-5G>A,,c.-5G>A,5_prime_UTR_variant,,,,1,246318,0.000004059792625792675,0,0,,,10.1,,0.120,0.140,0.214,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158048,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050100-T-C,17,43050100,rs2051143504,T,C,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-8A>G,,c.-8A>G,5_prime_UTR_variant,,,,1,246326,0.000004059660774745662,0,0,,,7.89,,0.0700,0.0900,-0.699,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158054,0,0,,,,,0,3032,0,0,0,16372,0,0 +17-43050100-T-G,17,43050100,,T,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-8A>C,,c.-8A>C,5_prime_UTR_variant,,,,1,246326,0.000004059660774745662,0,0,,,7.15,,0.0100,0.0300,-0.699,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20826,0,0,0,1294,0,0,0,158054,0,0,,,,,0,3032,0,0,0,16372,0,0 +17-43050101-G-A,17,43050101,rs556776893,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-9C>T,,c.-9C>T,5_prime_UTR_variant,,,,1,246320,0.000004059759662227996,0,0,,,9.12,,0.00,0.00,1.25,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,0,1294,0,0,0,158050,0,0,,,,,0,3030,0,0,1,16372,0,0 +17-43050103-C-T,17,43050103,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-11G>A,,c.-11G>A,5_prime_UTR_variant,,,,1,246318,0.000004059792625792675,0,0,,,4.54,,0.0200,0.0400,0.0270,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20826,0,0,1,1294,0,0,0,158050,0,0,,,,,0,3032,0,0,0,16368,0,0 +17-43050106-G-A,17,43050106,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-14C>T,,c.-14C>T,5_prime_UTR_variant,,,,3,246312,0.000012179674559095781,0,0,nfe,0.0000021000000000000002,6.28,,0.00,0.00,1.65,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,2,158044,0,0,,,,,0,3032,0,0,1,16370,0,0 +17-43050109-G-A,17,43050109,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-17C>T,,c.-17C>T,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,9.32,,0.00,0.00,0.942,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,1,22894,0,0,0,20822,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050110-C-T,17,43050110,rs2051143781,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-18G>A,,c.-18G>A,5_prime_UTR_variant,,,,1,246310,0.000004059924485404571,0,0,,,8.40,,0.0400,0.0500,2.05,,,0,7180,0,0,1,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050115-G-T,17,43050115,,G,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-23C>A,,c.-23C>A,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,10.2,,0.00,0.0700,0.950,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20822,0,0,0,1294,0,0,0,158042,0,0,,,,,0,3032,0,0,1,16370,0,0 +17-43050117-C-T,17,43050117,,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-25G>A,,c.-25G>A,5_prime_UTR_variant,,,,1,246306,0.0000040599904184226125,0,0,,,6.11,,0.00,0.0400,0.711,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1294,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050118-T-C,17,43050118,rs1038351454,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,c.-26A>G,,c.-26A>G,5_prime_UTR_variant,,,,3,398462,0.000007528948808167403,0,0,nfe,0.0000014700000000000001,0.0880,,0.00,0.00,-1.78,,,0,48608,0,0,0,22694,0,0,0,12712,0,0,0,28090,0,0,0,31440,0,0,0,1610,0,0,2,226078,0,0,0,910,0,0,0,7862,0,0,1,18458,0,0 +17-43050121-C-T,17,43050121,rs1312286338,C,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-29G>A,,c.-29G>A,5_prime_UTR_variant,,,,1,152180,0.000006571165724799579,0,0,,,0.757,,0.00,0.0200,-0.0290,,,1,41440,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,908,0,0,0,4828,0,0,0,2094,0,0 +17-43050126-A-G,17,43050126,rs1454299109,A,G,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-34T>C,,c.-34T>C,5_prime_UTR_variant,,,,1,152148,0.000006572547782422378,0,0,,,9.62,,0.00,0.0200,0.597,,,0,41430,0,0,1,15266,0,0,0,3472,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43050130-G-A,17,43050130,rs1352552177,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000591849.5,c.-38C>T,,c.-38C>T,5_prime_UTR_variant,,,,3,398486,0.000007528495354918366,0,0,nfe,0.00000353,4.26,,0.00,0.00,-1.25,,,0,48624,0,0,0,22700,0,0,0,12712,0,0,0,28092,0,0,0,31438,0,0,0,1612,0,0,3,226076,0,0,0,910,0,0,0,7860,0,0,0,18462,0,0 +17-43050133-A-G,17,43050133,,A,G,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-41T>C,,c.-41T>C,5_prime_UTR_variant,,,,1,246314,0.00000405985855452796,0,0,,,11.0,,0.00,0.0900,0.661,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22896,0,0,0,20828,0,0,0,1296,0,0,1,158038,0,0,,,,,0,3032,0,0,0,16370,0,0 +17-43050140-C-A,17,43050140,,C,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-48G>T,,c.-48G>T,5_prime_UTR_variant,,,,2,246304,0.000008120046771469403,0,0,,,7.69,,0.0600,0.120,1.42,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158034,0,0,,,,,1,3032,0,0,0,16370,0,0 +17-43050147-C-T,17,43050147,rs2051145038,C,T,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-55G>A,,c.-55G>A,5_prime_UTR_variant,,,,1,246310,0.000004059924485404571,0,0,,,6.90,,0.0100,0.0400,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158042,0,0,,,,,0,3030,0,0,0,16370,0,0 +17-43050150-G-A,17,43050150,,G,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-58C>T,,c.-58C>T,5_prime_UTR_variant,,,,2,246296,0.00000812031052067431,0,0,nfe,0.0000021000000000000002,13.2,,0.00,0.00,-0.556,,,0,7180,0,0,0,7434,0,0,0,9238,0,0,0,22894,0,0,0,20818,0,0,0,1296,0,0,2,158040,0,0,,,,,0,3028,0,0,0,16368,0,0 +17-43050150-G-T,17,43050150,rs2051145306,G,T,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-58C>A,,c.-58C>A,5_prime_UTR_variant,,,,1,152200,0.00000657030223390276,0,0,,,11.9,,0.0300,0.0600,-0.556,,,1,41456,0,0,0,15268,0,0,0,3472,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43050153-C-A,17,43050153,,C,A,gnomAD Exomes,PASS,NA,ENST00000591849.5,c.-61G>T,,c.-61G>T,5_prime_UTR_variant,,,,1,246308,0.000004059957451645907,0,0,,,1.88,,0.00,0.00,0.340,,,0,7180,0,0,0,7434,0,0,0,9240,0,0,0,22894,0,0,0,20824,0,0,0,1296,0,0,1,158040,0,0,,,,,0,3032,0,0,0,16368,0,0 +17-43050167-G-A,17,43050167,rs2051145679,G,A,gnomAD Genomes,NA,PASS,ENST00000591849.5,c.-75C>T,,c.-75C>T,5_prime_UTR_variant,,,,1,152194,0.000006570561257342603,0,0,,,6.85,,0.00,0.00,0.337,,,0,41450,0,0,0,15274,0,0,0,3466,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,910,0,0,0,4838,0,0,0,2090,0,0 +17-43050988-G-T,17,43050988,rs536980757,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+75C>A,,c.5332+75C>A,intron_variant,,,,44,1437486,0.00003060899375715659,0,0,sas,0.0003755100000000001,0.233,,0.00,0.00,-0.801,,,0,71226,0,0,0,59344,0,0,0,28460,0,0,0,43970,0,0,0,63530,0,0,0,5650,0,0,0,1020538,0,0,0,912,0,0,43,87188,0,0,1,56668,0,0 +17-43050989-G-A,17,43050989,rs1441333841,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+74C>T,,c.5332+74C>T,intron_variant,,,,1,152094,0.000006574881323392112,0,0,,,2.22,,0.00,0.00,0.0660,,,0,41402,0,0,0,15260,0,0,0,3472,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43050991-T-A,17,43050991,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+72A>T,,c.5332+72A>T,intron_variant,,,,1,680268,0.0000014700088788536283,0,0,,,3.80,,0.00,0.00,-0.604,,,0,12482,0,0,0,758,0,0,0,4266,0,0,0,2838,0,0,0,238,0,0,0,1334,0,0,0,622714,0,0,,,,,1,13390,0,0,0,22248,0,0 +17-43050993-T-G,17,43050993,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+70A>C,,c.5332+70A>C,intron_variant,,,,1,627158,0.0000015944945292892701,0,0,,,4.93,,0.00,0.00,0.0450,,,0,17664,0,0,0,43492,0,0,1,20916,0,0,0,36054,0,0,0,52908,0,0,0,4080,0,0,0,349460,0,0,,,,,0,69558,0,0,0,33026,0,0 +17-43050995-G-A,17,43050995,rs1597804012,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+68C>T,,c.5332+68C>T,intron_variant,,,,2,1334462,0.0000014987313239342896,0,0,eas,0.00000849,0.283,,0.0100,0.0300,-0.650,,,0,30734,0,0,0,44324,0,0,0,25312,0,0,2,39040,0,0,0,53124,0,0,0,5486,0,0,0,996742,0,0,,,,,0,83532,0,0,0,56168,0,0 +17-43050996-C-T,17,43050996,rs2051188419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+67G>A,,c.5332+67G>A,intron_variant,,,,2,1344200,0.0000014878738282993602,0,0,,,2.35,,0.00,0.00,-0.235,,,1,30930,0,0,0,44380,0,0,0,25382,0,0,0,39090,0,0,0,53184,0,0,0,5492,0,0,1,1005500,0,0,,,,,0,83726,0,0,0,56516,0,0 +17-43050998-T-G,17,43050998,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+65A>C,,c.5332+65A>C,intron_variant,,,,5,726296,0.000006884245541762587,0,0,nfe,0.0000022,3.99,,0.00,0.00,-0.00400,,,0,13446,0,0,0,836,0,0,0,4524,0,0,0,3084,0,0,0,258,0,0,0,1422,0,0,5,664696,0,0,,,,,0,14280,0,0,0,23750,0,0 +17-43050999-A-G,17,43050999,rs56131654,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+64T>C,,c.5332+64T>C,intron_variant,,,,5,1356668,0.0000036855000633906012,0,0,eas,0.00003479999999999999,0.0120,,0.00,0.00,-6.59,,,0,31186,0,0,0,44444,0,0,0,25496,0,0,4,39156,0,0,0,53232,0,0,0,5516,0,0,0,1016692,0,0,,,,,1,84036,0,0,0,56910,0,0 +17-43051003-T-C,17,43051003,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+60A>G,,c.5332+60A>G,intron_variant,,,,1,1366612,7.317365865366322e-7,0,0,,,0.109,,0.00,0.00,-1.39,,,0,31450,0,0,0,44520,0,0,0,25574,0,0,0,39232,0,0,0,53270,0,0,0,5558,0,0,1,1025536,0,0,,,,,0,84288,0,0,0,57184,0,0 +17-43051003-T-TA,17,43051003,rs2051188708,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+59dup,,c.5332+59dup,intron_variant,,,,7,1518754,0.000004609041358903417,0,0,amr,0.000054509999999999985,0.561,,0.00,0.00,-1.39,,,0,72874,0,0,7,59788,0,0,0,29046,0,0,0,44422,0,0,0,63876,0,0,0,5874,0,0,0,1093568,0,0,0,912,0,0,0,89118,0,0,0,59276,0,0 +17-43051005-C-T,17,43051005,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+58G>A,,c.5332+58G>A,intron_variant,,,,3,628174,0.000004775746847211123,0,0,nfe,9.5e-7,2.64,,0.00,0.00,-0.693,,,0,17686,0,0,0,43660,0,0,0,20958,0,0,1,36068,0,0,0,53032,0,0,0,4102,0,0,2,349872,0,0,,,,,0,69720,0,0,0,33076,0,0 +17-43051007-C-T,17,43051007,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+56G>A,,c.5332+56G>A,intron_variant,,,,1,628252,0.0000015917179730426644,0,0,,,1.61,,0.00,0.00,0.930,,,0,17686,0,0,0,43660,0,0,0,20962,0,0,0,36066,0,0,0,53050,0,0,0,4108,0,0,1,349910,0,0,,,,,0,69732,0,0,0,33078,0,0 +17-43051011-T-A,17,43051011,rs772224921,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+52A>T,,c.5332+52A>T,intron_variant,,,,41,1550078,0.00002645028185678398,0,0,nfe,0.00002718,0.371,,0.00,0.00,-0.440,,,0,73456,0,0,0,59850,0,0,0,29236,0,0,0,44566,0,0,0,63932,0,0,0,5938,0,0,41,1122034,0,0,0,912,0,0,0,89742,0,0,0,60412,0,0 +17-43051019-A-C,17,43051019,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+44T>G,,c.5332+44T>G,intron_variant,,,,1,1429372,6.996079397105861e-7,0,0,,,5.42,,0.00,0.00,0.479,,,0,32740,0,0,0,44668,0,0,0,25990,0,0,0,39558,0,0,0,53368,0,0,0,5678,0,0,1,1082426,0,0,,,,,0,85608,0,0,0,59336,0,0 +17-43051027-T-C,17,43051027,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+36A>G,,c.5332+36A>G,intron_variant,,,,2,1442794,0.0000013861992772356969,0,0,nfe,2.999999999999999e-7,8.94,,0.00,0.00,0.279,,,0,33062,0,0,0,44694,0,0,0,26050,0,0,0,39638,0,0,0,53390,0,0,0,5716,0,0,2,1094616,0,0,,,,,0,85872,0,0,0,59756,0,0 +17-43051028-G-A,17,43051028,rs1331415640,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+35C>T,,c.5332+35C>T,intron_variant,,,,1,1443746,6.926426116505258e-7,0,0,,,3.91,,0.00,0.00,1.19,,,0,33092,0,0,0,44698,0,0,0,26052,0,0,0,39638,0,0,0,53386,0,0,0,5722,0,0,1,1095476,0,0,,,,,0,85904,0,0,0,59778,0,0 +17-43051030-T-G,17,43051030,rs1376099117,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+33A>C,,c.5332+33A>C,intron_variant,,,,1,1448202,6.905114065579249e-7,0,0,,,3.99,,0.00,0.00,0.0350,,,0,33212,0,0,0,44702,0,0,0,26078,0,0,0,39650,0,0,0,53388,0,0,0,5716,0,0,0,1099548,0,0,,,,,0,85974,0,0,1,59934,0,0 +17-43051031-G-A,17,43051031,rs780795747,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+32C>T,,c.5332+32C>T,intron_variant,,,,5,1449524,0.000003449408219525858,0,0,nfe,8.500000000000001e-7,2.77,,0.00,0.00,0.824,,,0,33220,0,0,0,44708,0,0,0,26082,0,0,0,39660,0,0,0,53388,0,0,0,5718,0,0,4,1100758,0,0,,,,,0,86014,0,0,1,59976,0,0 +17-43051033-TG-T,17,43051033,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+29del,,c.5332+29del,intron_variant,,,,1,1452948,6.882558770169339e-7,0,0,,,1.27,,0.00,0.0100,0.850,,,0,33312,0,0,0,44716,0,0,0,26104,0,0,0,39668,0,0,0,53392,0,0,0,5738,0,0,1,1103836,0,0,,,,,0,86092,0,0,0,60090,0,0 +17-43051034-G-A,17,43051034,rs2051189713,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+29C>T,,c.5332+29C>T,intron_variant,,,,1,152116,0.000006573930421520419,0,0,,,3.42,,0.00,0.00,1.04,,,0,41428,0,0,0,15266,0,0,0,3468,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4818,0,0,0,2086,0,0 +17-43051035-G-C,17,43051035,rs745573228,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+28C>G,,c.5332+28C>G,intron_variant,,,,1,1454606,6.874713840036408e-7,0,0,,,3.32,,0.00,0.00,2.54,,,0,33344,0,0,0,44716,0,0,0,26104,0,0,0,39674,0,0,0,53394,0,0,0,5736,0,0,1,1105382,0,0,,,,,0,86112,0,0,0,60144,0,0 +17-43051035-G-T,17,43051035,rs745573228,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+28C>A,,c.5332+28C>A,intron_variant,,,,1,1454606,6.874713840036408e-7,0,0,,,3.18,,0.00,0.00,2.54,,,0,33344,0,0,0,44716,0,0,0,26104,0,0,0,39674,0,0,0,53394,0,0,0,5736,0,0,1,1105382,0,0,,,,,0,86112,0,0,0,60144,0,0 +17-43051036-A-T,17,43051036,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+27T>A,,c.5332+27T>A,intron_variant,,,,3,1455098,0.000002061716805328576,0,0,nfe,7.200000000000001e-7,4.42,,0.00,0.00,0.246,,,0,33350,0,0,0,44718,0,0,0,26110,0,0,0,39676,0,0,0,53404,0,0,0,5738,0,0,3,1105816,0,0,,,,,0,86128,0,0,0,60158,0,0 +17-43051038-C-T,17,43051038,rs1379554952,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+25G>A,,c.5332+25G>A,intron_variant,,,,2,1456610,0.0000013730511255586602,0,0,amr,0.000007410000000000001,0.152,,0.00,0.00,-0.0670,,,0,33374,0,0,2,44718,0,0,0,26116,0,0,0,39682,0,0,0,53400,0,0,0,5748,0,0,0,1107214,0,0,,,,,0,86158,0,0,0,60200,0,0 +17-43051039-T-G,17,43051039,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+24A>C,,c.5332+24A>C,intron_variant,,,,1,628738,0.0000015904876116919926,0,0,,,0.0660,,0.00,0.00,-0.453,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53122,0,0,0,4140,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33096,0,0 +17-43051040-C-T,17,43051040,rs2051190177,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+23G>A,,c.5332+23G>A,intron_variant,not provided,868331,,1,628740,0.0000015904825524064001,0,0,,,0.222,,0.00,0.00,-1.20,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53126,0,0,0,4138,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43051040-C-G,17,43051040,rs2051190177,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+23G>C,,c.5332+23G>C,intron_variant,not provided,868332,,1,628740,0.0000015904825524064001,0,0,,,0.181,,0.00,0.00,-1.20,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36070,0,0,0,53126,0,0,0,4138,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43051041-T-C,17,43051041,rs200407477,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5332+22A>G,,c.5332+22A>G,intron_variant,not provided,868012,,1,152286,0.000006566591807520061,0,0,,,0.965,,0.00,0.00,-2.50,,,0,41566,0,0,0,15290,0,0,0,3472,0,0,1,5182,0,0,0,10618,0,0,0,294,0,0,0,68012,0,0,0,912,0,0,0,4830,0,0,0,2110,0,0 +17-43051042-G-C,17,43051042,rs1187854390,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+21C>G,,c.5332+21C>G,intron_variant,not provided,868009,,2,1610588,0.0000012417825042779407,0,0,,,4.84,,0.00,0.00,0.348,,,0,74846,0,0,0,59996,0,0,0,29598,0,0,0,44876,0,0,0,64010,0,0,0,6070,0,0,2,1176900,0,0,0,912,0,0,0,91024,0,0,0,62356,0,0 +17-43051043-G-T,17,43051043,rs1057521961,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+20C>A,,c.5332+20C>A,intron_variant,Likely benign,384462,,3,628740,0.0000047714476572192,0,0,nfe,0.00000228,0.0840,,0.00,-0.0100,-0.0790,,,0,17690,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53132,0,0,0,4138,0,0,3,350094,0,0,,,,,0,69798,0,0,0,33094,0,0 +17-43051044-G-A,17,43051044,rs774813458,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+19C>T,,c.5332+19C>T,intron_variant,Benign/Likely benign,377574,,10,1459198,0.000006853079568365636,0,0,nfe,2.999999999999999e-7,5.36,,0.00,-0.0100,1.16,,,0,33434,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,7,53404,0,0,0,5756,0,0,2,1109550,0,0,,,,,0,86222,0,0,1,60292,0,0 +17-43051044-G-C,17,43051044,rs774813458,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+19C>G,,c.5332+19C>G,intron_variant,Likely benign,389458,,7,1459198,0.0000047971556978559455,0,0,nfe,0.0000026200000000000003,5.00,,0.00,-0.0100,1.16,,,0,33434,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,0,53404,0,0,0,5756,0,0,7,1109550,0,0,,,,,0,86222,0,0,0,60292,0,0 +17-43051048-C-G,17,43051048,rs80358148,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+15G>C,,c.5332+15G>C,intron_variant,Likely benign,125824,,35,1612494,0.000021705507121266807,0,0,nfe,0.00001997,3.19,,0.00,0.00,0.184,,,0,74872,0,0,0,59978,0,0,0,29602,0,0,0,44882,0,0,0,64016,0,0,0,6078,0,0,33,1178668,0,0,0,912,0,0,0,91058,0,0,2,62428,0,0 +17-43051049-T-C,17,43051049,rs2051191873,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+14A>G,,c.5332+14A>G,intron_variant,not provided,868321,,1,831938,0.0000012020126499811283,0,0,,,5.42,,0.00,0.00,1.57,,,0,15766,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,760822,0,0,,,,,0,16438,0,0,0,27256,0,0 +17-43051050-C-A,17,43051050,rs372391060,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+13G>T,,c.5332+13G>T,intron_variant,Benign/Likely benign,220900,,219,1613050,0.00013576764514429187,0,0,nfe,0.00015802,3.79,,0.00,-0.0200,0.651,,,2,74870,0,0,0,59984,0,0,0,29600,0,0,0,44886,0,0,0,64014,0,0,0,6074,0,0,210,1179194,0,0,0,912,0,0,0,91066,0,0,7,62450,0,0 +17-43051052-C-T,17,43051052,rs1258744250,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+11G>A,,c.5332+11G>A,intron_variant,Likely benign,764109,,1,1461182,6.843774423719975e-7,0,0,,,0.267,,0.00,-0.0200,-0.0880,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5754,0,0,1,1111372,0,0,,,,,0,86250,0,0,0,60372,0,0 +17-43051052-C-G,17,43051052,rs1258744250,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+11G>C,,c.5332+11G>C,intron_variant,not provided,868006,,1,1461182,6.843774423719975e-7,0,0,,,0.149,,0.00,0.00,-0.0880,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5754,0,0,1,1111372,0,0,,,,,0,86250,0,0,0,60372,0,0 +17-43051054-G-A,17,43051054,rs2051192763,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+9C>T,,c.5332+9C>T,intron_variant,Likely benign,868002,,2,832486,0.0000024024428038429473,0,0,nfe,4.4e-7,5.35,,0.00,0.00,0.751,,,0,15774,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,2,761330,0,0,,,,,0,16450,0,0,0,27278,0,0 +17-43051055-G-A,17,43051055,rs772616764,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+8C>T,,c.5332+8C>T,splice_region_variant,Likely benign,382499,,2,628748,0.000003180924631171789,0,0,sas,0.00000475,0.672,,0.00,0.00,0.0450,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4136,0,0,0,350106,0,0,,,,,2,69798,0,0,0,33094,0,0 +17-43051056-C-A,17,43051056,rs773655919,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+7G>T,,c.5332+7G>T,splice_region_variant,Conflicting interpretations of pathogenicity,491106,,6,1461420,0.00000410559592724884,0,0,sas,0.00002995,4.00,,0.00,0.00,0.140,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5762,0,0,0,1111596,0,0,,,,,6,86252,0,0,0,60376,0,0 +17-43051056-C-T,17,43051056,rs773655919,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+7G>A,,c.5332+7G>A,splice_region_variant,Likely benign,865606,,1,1461420,6.842659878748067e-7,0,0,,,3.92,,0.00,0.00,0.140,,,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53410,0,0,0,5762,0,0,0,1111596,0,0,,,,,1,86252,0,0,0,60376,0,0 +17-43051059-T-A,17,43051059,rs80358166,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+4A>T,,c.5332+4A>T,intron_variant,not provided,865319,,1,1461526,6.842163601605445e-7,0,0,,,16.1,,0.0300,-0.120,4.08,,,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5758,0,0,1,1111686,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43051059-T-C,17,43051059,rs80358166,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+4A>G,,c.5332+4A>G,intron_variant,Conflicting interpretations of pathogenicity,125827,,24,1461526,0.00001642119264385307,0,0,nfe,0.00001012,15.5,,0.0300,-0.110,4.08,,,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,6,53418,0,0,0,5758,0,0,18,1111686,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43051060-T-C,17,43051060,rs766614917,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5332+3A>G,,c.5332+3A>G,intron_variant,Conflicting interpretations of pathogenicity,240820,,26,1613724,0.000016111801026693535,0,0,nfe,0.00001533,16.7,,0.0100,-0.0800,4.06,,,0,74902,0,0,0,60002,0,0,0,29606,0,0,0,44892,0,0,0,64024,0,0,0,6074,0,0,26,1179756,0,0,0,912,0,0,0,91082,0,0,0,62474,0,0 +17-43051062-C-G,17,43051062,rs80358041,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+1G>C,,c.5332+1G>C,splice_donor_variant,Pathogenic/Likely pathogenic,55528,,2,628760,0.0000031808639226413895,0,0,,,34.0,,0.990,-0.840,7.91,,,0,17692,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53138,0,0,0,4138,0,0,0,350102,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43051062-C-T,17,43051062,rs80358041,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5332+1G>A,,c.5332+1G>A,splice_donor_variant,Pathogenic,55527,,1,628760,0.0000015904319613206948,0,0,,,34.0,,0.990,-0.840,7.91,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53138,0,0,0,4138,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051064-T-C,17,43051064,rs1411246255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>G,splice_region_variant,not provided,867998,,3,628766,0.000004771250353867735,0,0,sas,0.00001141,20.4,,0.0200,-0.100,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,0,350102,0,0,,,,,3,69798,0,0,0,33098,0,0 +17-43051064-T-G,17,43051064,rs1411246255,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>C,splice_region_variant,not provided,867997,,1,628766,0.0000015904167846225783,0,0,,,18.6,,0.0200,-0.0600,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051064-T-A,17,43051064,rs1411246255,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1777Thr,p.Thr1777Thr,c.5331A>T,splice_region_variant,Benign/Likely benign,867999,,1,628766,0.0000015904167846225783,0,0,,,19.5,,0.0200,-0.140,5.67,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4142,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051067-G-A,17,43051067,rs759867616,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1776Pro,p.Pro1776Pro,c.5328C>T,synonymous_variant,Likely benign,185660,,11,1461660,0.0000075256899689394254,0,0,amr,0.00003233,10.1,,0.00,0.00,1.30,,,0,33476,0,0,5,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5756,0,0,6,1111810,0,0,,,,,0,86256,0,0,0,60388,0,0 +17-43051068-G-T,17,43051068,rs398122695,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1776His,p.Pro1776His,c.5327C>A,missense_variant,Conflicting interpretations of pathogenicity,246175,,1,1461714,6.841283588992101e-7,0,0,,,26.4,0.564,0.00,0.00,7.82,0.100,0.600,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5760,0,0,1,1111858,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43051068-G-A,17,43051068,rs398122695,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1776Leu,p.Pro1776Leu,c.5327C>T,missense_variant,Conflicting interpretations of pathogenicity,91647,,5,1613824,0.0000030982312817258883,0,0,eas,0.00000738,27.0,0.631,0.00,0.00,7.82,0.0100,0.0130,0,74894,0,0,1,59988,0,0,0,29608,0,0,2,44892,0,0,0,64016,0,0,0,6076,0,0,1,1179870,0,0,0,912,0,0,0,91084,0,0,1,62484,0,0 +17-43051070-C-A,17,43051070,rs1135401885,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Ile,p.Met1775Ile,c.5325G>T,missense_variant,Uncertain significance,865306,,1,833004,0.0000012004744274937455,0,0,,,24.9,0.606,0.00,0.00,7.91,0.00,0.210,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761804,0,0,,,,,1,16456,0,0,0,27298,0,0 +17-43051071-A-C,17,43051071,rs41293463,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1775Arg,p.Met1775Arg,c.5324T>G,missense_variant,Pathogenic,17694,,5,780904,0.000006402835687869443,0,0,afr,0.000032689999999999994,27.2,0.728,0.00,-0.0100,5.64,0.00,0.806,5,59126,0,0,0,59010,0,0,0,24454,0,0,0,41260,0,0,0,63748,0,0,0,4456,0,0,0,418124,0,0,0,910,0,0,0,74626,0,0,0,35190,0,0 +17-43051071-ATGT-A,17,43051071,,ATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1774del,p.Asn1774del,c.5321_5323del,inframe_deletion,,,,1,628760,0.0000015904319613206948,0,0,,,19.8,,0.0100,-0.0300,5.64,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4140,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051072-T-C,17,43051072,rs2051198464,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Val,p.Met1775Val,c.5323A>G,missense_variant,Likely pathogenic,868306,,1,833030,0.0000012004369590530953,0,0,,,24.8,0.669,0.00,0.00,5.67,0.00,0.0370,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761828,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43051072-T-A,17,43051072,rs2051198464,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1775Leu,p.Met1775Leu,c.5323A>T,missense_variant,not provided,868307,,1,833030,0.0000012004369590530953,0,0,,,25.5,0.618,0.00,-0.0100,5.67,0.00,0.0980,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761828,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43051076-G-C,17,43051076,rs1555575689,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1773Thr,p.Thr1773Thr,c.5319C>G,synonymous_variant,Likely benign,514634,,6,1461798,0.000004104534279018031,0,0,nfe,0.00000194,8.12,,0.00,-0.0100,2.18,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,6,1111930,0,0,,,,,0,86258,0,0,0,60392,0,0 +17-43051077-G-A,17,43051077,rs80357428,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1773Ile,p.Thr1773Ile,c.5318C>T,missense_variant,Conflicting interpretations of pathogenicity,55522,,9,1461820,0.000006156708760312487,0,0,eas,0.00008197999999999997,24.8,0.676,0.00,0.00,2.76,0.130,0.356,0,33478,0,0,0,44724,0,0,0,26134,0,0,7,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111952,0,0,,,,,0,86256,0,0,1,60396,0,0 +17-43051078-T-A,17,43051078,rs80357324,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1773Ser,p.Thr1773Ser,c.5317A>T,missense_variant,Conflicting interpretations of pathogenicity,55521,,19,1613864,0.000011772987067063891,0,0,nfe,0.0000103,23.7,0.682,0.00,-0.0200,3.15,0.0100,0.106,0,74872,0,0,0,59982,0,0,0,29606,0,0,0,44878,0,0,0,64010,0,0,0,6082,0,0,19,1179958,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 +17-43051080-A-C,17,43051080,rs1555575700,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1772Cys,p.Phe1772Cys,c.5315T>G,missense_variant,Conflicting interpretations of pathogenicity,462669,,1,628766,0.0000015904167846225783,0,0,,,29.4,0.844,0.00,-0.0200,5.64,0.00,0.00700,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53134,0,0,0,4146,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051082-G-A,17,43051082,rs1131692076,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1771Pro,p.Pro1771Pro,c.5313C>T,synonymous_variant,Likely benign,427261,,1,628776,0.0000015903914907693677,0,0,,,5.73,,0.00,-0.0300,0.548,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4146,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051084-GC-G,17,43051084,rs80357581,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1772SerfsTer21,p.Phe1772SerfsTer21,c.5310del,frameshift_variant,Pathogenic,55516,,1,1461816,6.840806230059049e-7,0,0,,,22.7,,0.0100,-0.0300,7.82,,,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53412,0,0,1,5768,0,0,0,1111950,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43051084-G-C,17,43051084,rs576727185,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro1771Ala,p.Pro1771Ala,c.5311C>G,missense_variant,not provided,868298,,1,152256,0.000006567885666246322,0,0,,,25.0,0.706,0.00,0.00,7.82,,,0,41554,0,0,0,15290,0,0,0,3468,0,0,0,5184,0,0,0,10610,0,0,0,294,0,0,0,68014,0,0,0,912,0,0,1,4816,0,0,0,2114,0,0 +17-43051085-C-T,17,43051085,rs273901761,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1770Gly,p.Gly1770Gly,c.5310G>A,synonymous_variant,Likely benign,55515,,14,1613758,0.000008675402383752707,0,0,eas,0.00015394999999999997,3.55,,0.0100,0.00,-0.548,,,0,74824,0,0,0,59978,0,0,0,29602,0,0,12,44882,0,0,0,63978,0,0,0,6078,0,0,2,1179946,0,0,0,912,0,0,0,91084,0,0,0,62474,0,0 +17-43051085-C-G,17,43051085,rs273901761,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1770Gly,p.Gly1770Gly,c.5310G>C,synonymous_variant,Likely benign,219830,,1,151942,0.000006581458714509484,0,0,,,3.02,,0.00,0.00,-0.548,,,1,41346,0,0,0,15254,0,0,0,3466,0,0,0,5184,0,0,0,10566,0,0,0,316,0,0,0,67990,0,0,0,912,0,0,0,4826,0,0,0,2082,0,0 +17-43051086-C-A,17,43051086,rs863224765,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1770Val,p.Gly1770Val,c.5309G>T,missense_variant,Pathogenic,417832,,2,628770,0.000003180813333969496,0,0,,,24.6,0.835,0.00,-0.0200,4.76,0.00,0.142,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4142,0,0,0,350102,0,0,,,,,1,69798,0,0,1,33098,0,0 +17-43051089-T-C,17,43051089,rs397509257,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1769Cys,p.Tyr1769Cys,c.5306A>G,missense_variant,Conflicting interpretations of pathogenicity,55513,,75,1613850,0.000046472720513058835,1,0,sas,0.0006429800000000001,17.2,0.561,0.00,-0.0100,1.96,0.230,0.00300,0,74874,0,0,0,59978,0,0,0,29608,0,0,1,44872,0,0,0,64012,0,0,0,6080,0,0,1,1179958,0,0,0,912,0,0,72,91074,1,0,1,62482,0,0 +17-43051091-G-A,17,43051091,rs138493864,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1768Cys,p.Cys1768Cys,c.5304C>T,synonymous_variant,Likely benign,182097,,42,1614104,0.0000260206281627454,0,0,afr,0.00041306,8.24,,0.00,-0.0400,0.621,,,41,75052,0,0,0,60010,0,0,0,29604,0,0,0,44882,0,0,0,64022,0,0,0,6060,0,0,1,1179968,0,0,0,912,0,0,0,91086,0,0,0,62508,0,0 +17-43051093-A-C,17,43051093,rs431825416,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1768Gly,p.Cys1768Gly,c.5302T>G,missense_variant,Uncertain significance,96948,,1,628774,0.0000015903965494756462,0,0,,,27.0,0.867,0.00,0.00,5.64,0.00,0.0120,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4144,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051095-C-G,17,43051095,rs1597804426,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1767Ser,p.Cys1767Ser,c.5300G>C,missense_variant,Uncertain significance,801087,,3,833066,0.000003601155250604394,0,0,nfe,0.00000105,24.1,0.767,0.00,0.00,5.04,0.00,0.0150,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,3,761864,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43051097-G-A,17,43051097,rs2051207482,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766Ile,p.Ile1766Ile,c.5298C>T,synonymous_variant,not provided,867968,,1,833042,0.0000012004196667154838,0,0,,,7.86,,0.00,-0.0300,2.22,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761842,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43051098-A-AT,17,43051098,rs1555575732,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766AsnfsTer64,p.Ile1766AsnfsTer64,c.5296dup,frameshift_variant,Pathogenic,481473,,1,833056,0.0000012003994929512542,0,0,,,34.0,,0.0300,0.0100,5.64,,,1,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761854,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43051099-T-C,17,43051099,rs886039314,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1766Val,p.Ile1766Val,c.5296A>G,missense_variant,Conflicting interpretations of pathogenicity,265052,,1,628776,0.0000015903914907693677,0,0,,,15.4,0.414,0.00,0.00,1.05,0.350,0.103,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4146,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051103-T-C,17,43051103,rs2051209584,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Leu,p.Leu1764Leu,c.5292A>G,synonymous_variant,not provided,865270,,1,628772,0.0000015904016082141062,0,0,,,7.13,,0.00,0.0100,-0.705,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4146,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43051105-G-A,17,43051105,rs1295469179,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Leu,p.Leu1764Leu,c.5290C>T,synonymous_variant,,,,4,628772,0.000006361606432856425,0,0,,,8.61,,0.0100,-0.0300,2.58,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,4,53136,0,0,0,4144,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051105-G-T,17,43051105,rs1295469179,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1764Ile,p.Leu1764Ile,c.5290C>A,missense_variant,Uncertain significance,868288,,1,628772,0.0000015904016082141062,0,0,,,23.6,0.519,0.00,0.00,2.58,0.0100,0.0130,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4144,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051106-C-G,17,43051106,rs1022076404,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1763Gly,p.Gly1763Gly,c.5289G>C,synonymous_variant,Likely benign,485387,,2,152044,0.000013154086974823077,0,0,,,7.59,,0.00,0.0100,2.26,,,1,41386,0,0,1,15264,0,0,0,3470,0,0,0,5184,0,0,0,10586,0,0,0,316,0,0,0,68014,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43051106-C-T,17,43051106,rs1022076404,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1763Gly,p.Gly1763Gly,c.5289G>A,synonymous_variant,Likely benign,509994,,5,1461752,0.0000034205528708016136,0,0,nfe,8.4e-7,8.00,,0.00,0.00,2.26,,,1,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53408,0,0,0,5766,0,0,4,1111892,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43051107-C-A,17,43051107,rs80357007,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1763Val,p.Gly1763Val,c.5288G>T,missense_variant,Conflicting interpretations of pathogenicity,55507,,2,628770,0.000003180813333969496,0,0,nfe,9.5e-7,24.7,0.756,0.00,0.00,4.99,0.00,0.0180,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4144,0,0,2,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43051110-C-G,17,43051110,rs398122694,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1762Thr,p.Arg1762Thr,c.5285G>C,missense_variant,Uncertain significance,648860,,1,1461710,6.84130231030779e-7,0,0,,,16.2,0.553,0.00,0.00,-1.06,0.0100,0.124,0,33472,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53404,0,0,0,5766,0,0,0,1111866,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43051110-C-A,17,43051110,rs398122694,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1762Met,p.Arg1762Met,c.5285G>T,missense_variant,Conflicting interpretations of pathogenicity,91646,,4,1461710,0.000002736520924123116,0,0,nfe,8.4e-7,17.7,0.580,0.00,0.00,-1.06,0.00,0.570,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53404,0,0,0,5766,0,0,4,1111866,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43051115-G-T,17,43051115,rs750040616,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1760Ile,p.Ile1760Ile,c.5280C>A,splice_region_variant,Likely benign,186911,,2,1461516,0.0000013684420834257033,0,0,,,15.3,,0.00,-0.0300,3.38,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53412,0,0,2,5762,0,0,0,1111674,0,0,,,,,0,86252,0,0,0,60386,0,0 +17-43051118-C-T,17,43051118,rs80358099,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-1G>A,,c.5278-1G>A,splice_acceptor_variant,Pathogenic,55500,,1,628756,0.0000015904420792803568,0,0,,,34.0,,0.960,-0.840,7.91,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4142,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33096,0,0 +17-43051118-C-G,17,43051118,rs80358099,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-1G>C,,c.5278-1G>C,splice_acceptor_variant,Pathogenic,55501,,1,151980,0.000006579813133307014,0,0,,,34.0,,0.960,-0.840,7.91,,,0,41364,0,0,1,15258,0,0,0,3472,0,0,0,5186,0,0,0,10560,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4816,0,0,0,2090,0,0 +17-43051131-G-C,17,43051131,rs80358105,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-14C>G,,c.5278-14C>G,intron_variant,Benign,91645,,119,1611186,0.00007385863581237672,0,0,nfe,0.00007928,13.7,,0.0100,0.0100,0.608,,,3,74844,0,0,0,59998,0,0,0,29586,0,0,1,44884,0,0,0,64006,0,0,0,6070,0,0,111,1177488,0,0,0,912,0,0,0,91014,0,0,4,62384,0,0 +17-43051132-G-A,17,43051132,rs1320766010,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-15C>T,,c.5278-15C>T,intron_variant,not provided,867936,,1,152172,0.000006571511184712037,0,0,,,2.59,,0.00,0.00,-0.114,,,0,41448,0,0,1,15280,0,0,0,3470,0,0,0,5194,0,0,0,10614,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43051135-G-C,17,43051135,rs1555575750,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5278-18C>G,,c.5278-18C>G,intron_variant,Likely benign,491104,,1,152206,0.000006570043230884459,0,0,,,6.04,,0.00,0.00,0.272,,,0,41440,0,0,0,15278,0,0,0,3472,0,0,0,5194,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43051136-A-T,17,43051136,rs1597804604,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-19T>A,,c.5278-19T>A,intron_variant,Likely benign,700661,,2,1456632,0.0000013730303879085451,0,0,nfe,2.999999999999999e-7,4.40,,0.0300,-0.0100,0.954,,,0,33352,0,0,0,44718,0,0,0,26090,0,0,0,39680,0,0,0,53386,0,0,0,5752,0,0,2,1107276,0,0,,,,,0,86156,0,0,0,60222,0,0 +17-43051137-G-A,17,43051137,rs193149108,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-20C>T,,c.5278-20C>T,intron_variant,Likely benign,379110,,24,1608806,0.000014917895631915843,0,0,afr,0.00017678,2.45,,0.00,-0.0100,0.656,,,20,74916,0,0,2,60014,0,0,0,29558,0,0,0,44866,0,0,0,63994,0,0,0,6040,0,0,1,1175204,0,0,0,912,0,0,0,90972,0,0,1,62330,0,0 +17-43051139-G-A,17,43051139,rs185646848,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-22C>T,,c.5278-22C>T,intron_variant,Likely benign,371866,,229,1606502,0.0001425457297905636,1,0,amr,0.0032849300000000014,2.68,,0.00,0.00,-0.572,,,0,74878,0,0,221,59998,1,0,0,29546,0,0,0,44858,0,0,0,63990,0,0,0,6042,0,0,1,1173128,0,0,0,912,0,0,0,90926,0,0,7,62224,0,0 +17-43051139-G-C,17,43051139,rs185646848,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-22C>G,,c.5278-22C>G,intron_variant,not provided,868262,,3,1454188,0.0000020630069839663096,0,0,nfe,2.999999999999999e-7,2.77,,0.00,0.00,-0.572,,,0,33304,0,0,0,44708,0,0,0,26078,0,0,0,39670,0,0,0,53376,0,0,0,5748,0,0,2,1105098,0,0,,,,,0,86092,0,0,1,60114,0,0 +17-43051142-G-A,17,43051142,rs2051219503,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-25C>T,,c.5278-25C>T,intron_variant,,,,1,822690,0.0000012155246812286524,0,0,,,2.21,,0.00,0.00,1.73,,,0,15552,0,0,0,970,0,0,0,5084,0,0,0,3586,0,0,0,274,0,0,0,1604,0,0,1,752510,0,0,,,,,0,16230,0,0,0,26880,0,0 +17-43051143-G-C,17,43051143,rs2153090080,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-26C>G,,c.5278-26C>G,intron_variant,,,,2,1450250,0.0000013790725736941907,0,0,nfe,2.999999999999999e-7,3.69,,0.0100,-0.0200,-0.653,,,0,33234,0,0,0,44710,0,0,0,26062,0,0,0,39646,0,0,0,53358,0,0,0,5740,0,0,2,1101534,0,0,,,,,0,86004,0,0,0,59962,0,0 +17-43051144-A-C,17,43051144,rs1443477823,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-27T>G,,c.5278-27T>G,intron_variant,,,,5,1448740,0.0000034512749009484104,0,0,nfe,0.0000013299999999999998,9.47,,0.0400,-0.0400,1.22,,,0,33196,0,0,0,44708,0,0,0,26058,0,0,0,39628,0,0,0,53362,0,0,0,5736,0,0,5,1100142,0,0,,,,,0,85972,0,0,0,59938,0,0 +17-43051145-CAG-C,17,43051145,,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-30_5278-29del,,c.5278-30_5278-29del,intron_variant,,,,2,818428,0.000002443709159510672,0,0,nfe,4.4e-7,4.20,,0.00,0.0100,0.124,,,0,15466,0,0,0,968,0,0,0,5066,0,0,0,3552,0,0,0,274,0,0,0,1600,0,0,2,748584,0,0,,,,,0,16134,0,0,0,26784,0,0 +17-43051145-C-T,17,43051145,rs2153090370,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-28G>A,,c.5278-28G>A,intron_variant,,,,1,818428,0.000001221854579755336,0,0,,,0.356,,0.00,0.00,0.124,,,0,15466,0,0,0,968,0,0,0,5066,0,0,0,3552,0,0,0,274,0,0,0,1600,0,0,1,748584,0,0,,,,,0,16134,0,0,0,26784,0,0 +17-43051146-A-C,17,43051146,rs1209887182,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-29T>G,,c.5278-29T>G,intron_variant,,,,2,1593052,0.0000012554517994390642,0,0,,,8.96,,0.0200,-0.0300,0.658,,,0,74486,0,0,2,59964,0,0,0,29490,0,0,0,44784,0,0,0,63960,0,0,0,6038,0,0,0,1160978,0,0,0,912,0,0,0,90624,0,0,0,61816,0,0 +17-43051147-G-A,17,43051147,rs2153090602,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-30C>T,,c.5278-30C>T,intron_variant,,,,4,812394,0.000004923719279069023,0,0,nfe,0.00000126,3.02,,0.00,0.00,1.06,,,0,15334,0,0,0,956,0,0,0,5038,0,0,0,3518,0,0,0,270,0,0,0,1594,0,0,4,743048,0,0,,,,,0,16008,0,0,0,26628,0,0 +17-43051148-G-A,17,43051148,rs199858368,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-31C>T,,c.5278-31C>T,intron_variant,,,,14,1593762,0.000008784247585273083,0,0,nfe,0.00000624,6.07,,0.00,-0.0100,-0.280,,,0,74582,0,0,0,59958,0,0,0,29492,0,0,0,44772,0,0,0,63934,0,0,0,6016,0,0,13,1161614,0,0,0,912,0,0,0,90626,0,0,1,61856,0,0 +17-43051149-G-A,17,43051149,rs771092891,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-32C>T,,c.5278-32C>T,intron_variant,,,,4,1435588,0.00000278631473654001,0,0,eas,0.00003356,3.27,,0.00,-0.0100,0.366,,,0,32936,0,0,0,44676,0,0,0,26004,0,0,4,39556,0,0,0,53320,0,0,0,5714,0,0,0,1088184,0,0,,,,,0,85674,0,0,0,59524,0,0 +17-43051153-T-C,17,43051153,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-36A>G,,c.5278-36A>G,intron_variant,,,,1,791614,0.0000012632419335686331,0,0,,,1.91,,0.00,0.0100,-0.751,,,0,14888,0,0,0,930,0,0,0,4916,0,0,0,3414,0,0,0,264,0,0,0,1536,0,0,1,724108,0,0,,,,,0,15586,0,0,0,25972,0,0 +17-43051156-A-G,17,43051156,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-39T>C,,c.5278-39T>C,intron_variant,,,,1,1410178,7.091303367376317e-7,0,0,,,7.89,,0.0100,-0.0100,0.592,,,0,32374,0,0,0,44638,0,0,0,25828,0,0,0,39424,0,0,0,53244,0,0,0,5640,0,0,0,1065156,0,0,,,,,1,85180,0,0,0,58694,0,0 +17-43051160-AAGGAAAATCT-A,17,43051160,,AAGGAAAATCT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-53_5278-44del,,c.5278-53_5278-44del,intron_variant,,,,2,762550,0.0000026227788341748083,0,0,afr,0.00002414,10.8,,0.00,0.0100,2.73,,,2,14266,0,0,0,894,0,0,0,4738,0,0,0,3268,0,0,0,258,0,0,0,1492,0,0,0,697628,0,0,,,,,0,15020,0,0,0,24986,0,0 +17-43051162-G-A,17,43051162,rs776854280,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-45C>T,,c.5278-45C>T,intron_variant,,,,14,1531974,0.00000913853629369689,0,0,eas,0.00017237999999999997,6.74,,0.00,0.00,0.747,,,0,73096,0,0,0,59792,0,0,0,29114,0,0,13,44474,0,0,0,63732,0,0,0,5902,0,0,0,1105744,0,0,0,912,0,0,0,89418,0,0,1,59790,0,0 +17-43051163-GA-G,17,43051163,rs2051220870,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-47del,,c.5278-47del,intron_variant,,,,2,1380182,0.0000014490842512074496,0,0,eas,0.00000843,0.619,,0.00,0.0100,-0.546,,,0,31698,0,0,0,44532,0,0,0,25638,0,0,2,39294,0,0,0,53108,0,0,0,5586,0,0,0,1038012,0,0,,,,,0,84592,0,0,0,57722,0,0 +17-43051163-G-T,17,43051163,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-46C>A,,c.5278-46C>A,intron_variant,,,,1,1380182,7.245421256037248e-7,0,0,,,3.07,,0.00,0.00,-0.546,,,0,31698,0,0,0,44532,0,0,0,25638,0,0,0,39294,0,0,1,53108,0,0,0,5586,0,0,0,1038012,0,0,,,,,0,84592,0,0,0,57722,0,0 +17-43051166-A-G,17,43051166,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-49T>C,,c.5278-49T>C,intron_variant,,,,1,628116,0.0000015920626126384298,0,0,,,3.28,,0.00,-0.0200,0.489,,,1,17670,0,0,0,43664,0,0,0,20964,0,0,0,36070,0,0,0,52854,0,0,0,4102,0,0,0,349958,0,0,,,,,0,69764,0,0,0,33070,0,0 +17-43051168-T-C,17,43051168,rs957547480,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-51A>G,,c.5278-51A>G,intron_variant,,,,2,1367748,0.0000014622576673480787,0,0,nfe,3.200000000000001e-7,2.73,,0.0300,0.0200,-0.0180,,,0,31436,0,0,0,44482,0,0,0,25550,0,0,0,39240,0,0,0,53018,0,0,0,5556,0,0,2,1026854,0,0,,,,,0,84330,0,0,0,57282,0,0 +17-43051172-G-A,17,43051172,rs1309672012,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-55C>T,,c.5278-55C>T,intron_variant,,,,4,1348250,0.000002966808826256258,0,0,amr,0.00001793,10.8,,0.00,-0.0100,0.424,,,0,31018,0,0,3,44376,0,0,0,25420,0,0,0,39132,0,0,0,52844,0,0,0,5512,0,0,1,1009426,0,0,,,,,0,83924,0,0,0,56598,0,0 +17-43051176-T-C,17,43051176,rs2051221334,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-59A>G,,c.5278-59A>G,intron_variant,,,,1,626718,0.0000015956139763019413,0,0,,,12.3,,0.00,0.00,-0.0260,,,0,17646,0,0,1,43542,0,0,0,20930,0,0,0,36054,0,0,0,52446,0,0,0,4036,0,0,0,349408,0,0,,,,,0,69628,0,0,0,33028,0,0 +17-43051177-A-G,17,43051177,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-60T>C,,c.5278-60T>C,intron_variant,,,,1,698778,0.0000014310696673335452,0,0,,,13.8,,0.00,-0.0100,0.473,,,0,12874,0,0,0,818,0,0,0,4342,0,0,0,2932,0,0,0,242,0,0,0,1392,0,0,0,639590,0,0,,,,,1,13790,0,0,0,22798,0,0 +17-43051178-A-G,17,43051178,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-61T>C,,c.5278-61T>C,intron_variant,,,,1,626668,0.000001595741285656839,0,0,,,15.4,,0.00,-0.0100,2.01,,,0,17640,0,0,0,43508,0,0,0,20928,0,0,0,36056,0,0,0,52434,0,0,0,4022,0,0,0,349418,0,0,,,,,1,69636,0,0,0,33026,0,0 +17-43051180-A-G,17,43051180,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-63T>C,,c.5278-63T>C,intron_variant,,,,1,1309580,7.636035981001542e-7,0,0,,,11.8,,0.00,0.00,0.153,,,0,30232,0,0,0,44274,0,0,0,25178,0,0,1,38934,0,0,0,52538,0,0,0,5378,0,0,0,974616,0,0,,,,,0,83116,0,0,0,55314,0,0 +17-43051181-G-A,17,43051181,rs2153092903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-64C>T,,c.5278-64C>T,intron_variant,,,,1,1303954,7.66898218802197e-7,0,0,,,6.35,,0.00,0.00,-0.221,,,0,30096,0,0,0,44198,0,0,0,25146,0,0,0,38894,0,0,0,52426,0,0,0,5366,0,0,1,969762,0,0,,,,,0,82966,0,0,0,55100,0,0 +17-43051181-G-T,17,43051181,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-64C>A,,c.5278-64C>A,intron_variant,,,,2,1303950,0.0000015338011426818513,0,0,,,5.83,,0.00,0.00,-0.221,,,0,30096,0,0,0,44198,0,0,0,25146,0,0,0,38894,0,0,0,52426,0,0,0,5366,0,0,0,969758,0,0,,,,,1,82966,0,0,1,55100,0,0 +17-43051183-A-C,17,43051183,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-66T>G,,c.5278-66T>G,intron_variant,,,,1,625142,0.0000015996365625729834,0,0,,,9.11,,0.00,0.00,-1.14,,,0,17568,0,0,0,43304,0,0,0,20900,0,0,0,36040,0,0,0,52120,0,0,0,3960,0,0,1,348820,0,0,,,,,0,69468,0,0,0,32962,0,0 +17-43051184-T-C,17,43051184,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-67A>G,,c.5278-67A>G,intron_variant,,,,2,1257356,0.0000015906394052281136,0,0,sas,0.00000406,11.8,,0.00,0.00,-1.92,,,0,29136,0,0,0,43770,0,0,0,24828,0,0,0,38648,0,0,0,51936,0,0,0,5162,0,0,0,928538,0,0,,,,,2,81858,0,0,0,53480,0,0 +17-43051185-A-G,17,43051185,rs2153093039,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-68T>C,,c.5278-68T>C,intron_variant,,,,1,1264822,7.906250840039151e-7,0,0,,,8.53,,0.00,0.00,-0.510,,,0,29248,0,0,0,43824,0,0,0,24884,0,0,0,38682,0,0,0,51952,0,0,0,5178,0,0,0,935306,0,0,,,,,0,82012,0,0,1,53736,0,0 +17-43051186-T-C,17,43051186,rs924705615,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5278-69A>G,,c.5278-69A>G,intron_variant,,,,103,1421410,0.00007246325831392772,0,0,nfe,0.0000034200000000000003,10.5,,0.00,0.00,-0.121,,,0,70754,0,0,0,59096,0,0,0,28378,0,0,0,43896,0,0,93,62538,0,0,0,5504,0,0,8,1007390,0,0,0,912,0,0,0,86958,0,0,2,55984,0,0 +17-43051188-G-A,17,43051188,rs2051221672,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-71C>T,,c.5278-71C>T,intron_variant,,,,3,1255730,0.000002389048601212044,0,0,sas,0.00000405,10.7,,0.00,0.00,-1.06,,,0,29098,0,0,0,43734,0,0,0,24826,0,0,0,38640,0,0,0,51856,0,0,0,5166,0,0,1,927136,0,0,,,,,2,81872,0,0,0,53402,0,0 +17-43051190-C-T,17,43051190,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-73G>A,,c.5278-73G>A,intron_variant,,,,1,1253920,7.974990430011484e-7,0,0,,,3.23,,0.00,0.00,-1.09,,,0,28958,0,0,0,43432,0,0,0,24750,0,0,0,38630,0,0,0,51682,0,0,0,5116,0,0,1,926354,0,0,,,,,0,81610,0,0,0,53388,0,0 +17-43051191-T-C,17,43051191,rs2051221812,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5278-74A>G,,c.5278-74A>G,intron_variant,,,,10,621296,0.000016095387705699055,0,0,sas,0.00007794999999999998,8.58,,0.00,-0.0100,1.98,,,0,17422,0,0,0,42728,0,0,0,20780,0,0,0,36000,0,0,0,51398,0,0,0,3816,0,0,0,347256,0,0,,,,,10,69090,0,0,0,32806,0,0 +17-43056977-C-T,17,43056977,rs2153342167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+75G>A,,c.5277+75G>A,intron_variant,,,,1,1193012,8.382145359811972e-7,0,0,,,6.10,,0.0100,0.0100,0.940,,,0,28102,0,0,0,44272,0,0,0,24514,0,0,1,38436,0,0,0,53120,0,0,0,5250,0,0,0,866988,0,0,,,,,0,80820,0,0,0,51510,0,0 +17-43056982-C-T,17,43056982,rs2153343175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+70G>A,,c.5277+70G>A,intron_variant,,,,8,1262506,0.000006336603548814817,0,0,nfe,0.0000037,1.72,,0.00,0.00,0.187,,,0,29420,0,0,0,44400,0,0,0,24978,0,0,0,38774,0,0,0,53164,0,0,0,5398,0,0,8,930386,0,0,,,,,0,82192,0,0,0,53794,0,0 +17-43056986-G-T,17,43056986,rs2153344010,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+66C>A,,c.5277+66C>A,intron_variant,,,,1,674040,0.0000014835914782505488,0,0,,,0.199,,0.00,-0.0100,0.147,,,0,12472,0,0,0,788,0,0,0,4218,0,0,0,2914,0,0,0,220,0,0,0,1346,0,0,1,616912,0,0,,,,,0,13154,0,0,0,22016,0,0 +17-43056991-G-T,17,43056991,rs2153344854,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+61C>A,,c.5277+61C>A,intron_variant,,,,1,1311094,7.627218185728865e-7,0,0,,,1.25,,0.00,0.00,0.0980,,,0,30464,0,0,0,44458,0,0,0,25236,0,0,0,39040,0,0,0,53162,0,0,0,5512,0,0,0,974600,0,0,,,,,1,83250,0,0,0,55372,0,0 +17-43056991-G-C,17,43056991,rs2153344854,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+61C>G,,c.5277+61C>G,intron_variant,,,,5,1311100,0.000003813591640607124,0,0,nfe,8.2e-7,1.38,,0.00,0.00,0.0980,,,0,30464,0,0,0,44458,0,0,0,25236,0,0,0,39040,0,0,0,53164,0,0,2,5512,0,0,3,974604,0,0,,,,,0,83250,0,0,0,55372,0,0 +17-43056992-G-C,17,43056992,rs2153345030,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+60C>G,,c.5277+60C>G,intron_variant,,,,4,1317782,0.000003035403427881091,1,0,sas,0.000016210000000000002,0.143,,0.0100,0.00,-0.904,,,0,30472,0,0,0,44516,0,0,0,25274,0,0,0,39056,0,0,0,53266,0,0,0,5510,0,0,0,980814,0,0,,,,,4,83318,1,0,0,55556,0,0 +17-43056992-G-GGGAGTGGAATAC,17,43056992,rs572766355,G,GGGAGTGGAATAC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+48_5277+59dup,,c.5277+48_5277+59dup,intron_variant,Benign,433729,,3419,1469986,0.0023258724913026384,2,0,nfe,0.00292526,2.90,,0.00,-0.0100,-0.904,,,39,72020,0,0,43,59798,0,0,1,28746,0,0,0,44236,0,0,92,63876,0,0,0,5804,0,0,3160,1048786,2,0,0,912,0,0,8,88138,0,0,76,57670,0,0 +17-43056993-GGAGTGGAATACA-G,17,43056993,,GGAGTGGAATACA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+47_5277+58del,,c.5277+47_5277+58del,intron_variant,,,,1,1323804,7.553988354771553e-7,0,0,,,9.90,,0.00,0.0100,0.424,,,0,30612,0,0,0,44516,0,0,0,25286,0,0,0,39070,0,0,0,53284,0,0,0,5518,0,0,1,986342,0,0,,,,,0,83426,0,0,0,55750,0,0 +17-43056994-G-A,17,43056994,rs2153345672,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+58C>T,,c.5277+58C>T,intron_variant,,,,3,1326672,0.0000022612974420203335,0,0,nfe,8.100000000000001e-7,1.39,,0.00,0.00,0.106,,,0,30648,0,0,0,44526,0,0,0,25316,0,0,0,39088,0,0,0,53280,0,0,0,5526,0,0,3,988968,0,0,,,,,0,83474,0,0,0,55846,0,0 +17-43056998-G-T,17,43056998,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+54C>A,,c.5277+54C>A,intron_variant,,,,1,733280,0.0000013637355444032293,0,0,,,5.57,,0.00,0.00,0.153,,,0,13658,0,0,0,862,0,0,0,4532,0,0,0,3192,0,0,0,230,0,0,0,1458,0,0,1,670912,0,0,,,,,0,14444,0,0,0,23992,0,0 +17-43056999-G-T,17,43056999,rs2051489655,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+53C>A,,c.5277+53C>A,intron_variant,,,,1,1366970,7.315449497794392e-7,0,0,,,8.34,,0.00,0.00,-0.00200,,,0,31478,0,0,0,44592,0,0,0,25536,0,0,0,39278,0,0,0,53304,0,0,0,5616,0,0,0,1025632,0,0,,,,,1,84318,0,0,0,57216,0,0 +17-43056999-G-A,17,43056999,rs2051489655,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+53C>T,,c.5277+53C>T,intron_variant,,,,1,1366974,7.315428091536489e-7,0,0,,,8.74,,0.00,0.00,-0.00200,,,0,31478,0,0,0,44592,0,0,0,25536,0,0,0,39278,0,0,0,53304,0,0,0,5616,0,0,1,1025634,0,0,,,,,0,84318,0,0,0,57218,0,0 +17-43057004-C-T,17,43057004,rs759776172,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+48G>A,,c.5277+48G>A,intron_variant,,,,2,780200,0.000002563445270443476,0,0,,,8.34,,0.00,0.00,0.123,,,0,59098,0,0,0,58974,0,0,0,24424,0,0,0,41242,0,0,0,63662,0,0,0,4458,0,0,2,417678,0,0,0,912,0,0,0,74614,0,0,0,35138,0,0 +17-43057006-G-A,17,43057006,rs913567189,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+46C>T,,c.5277+46C>T,intron_variant,,,,1,1407624,7.104169863543105e-7,0,0,,,3.58,,0.00,0.00,-0.245,,,0,32240,0,0,0,44632,0,0,0,25818,0,0,0,39456,0,0,0,53326,0,0,0,5670,0,0,1,1062748,0,0,,,,,0,85178,0,0,0,58556,0,0 +17-43057008-G-T,17,43057008,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>A,,c.5277+44C>A,intron_variant,,,,1,1414290,7.070685644386936e-7,0,0,,,5.73,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,1,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 +17-43057008-G-C,17,43057008,rs2051490741,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>G,,c.5277+44C>G,intron_variant,,,,7,1414290,0.000004949479951070856,0,0,nfe,0.0000027200000000000002,6.00,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,7,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 +17-43057008-G-A,17,43057008,rs2051490741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+44C>T,,c.5277+44C>T,intron_variant,,,,1,1414290,7.070685644386936e-7,0,0,,,6.21,,0.00,0.00,1.14,,,0,32398,0,0,0,44640,0,0,0,25858,0,0,0,39472,0,0,0,53340,0,0,0,5684,0,0,1,1068896,0,0,,,,,0,85304,0,0,0,58698,0,0 +17-43057009-T-C,17,43057009,rs770045451,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+43A>G,,c.5277+43A>G,intron_variant,,,,2,1415036,0.0000014133916027578098,0,0,,,1.21,,0.00,0.00,-1.81,,,0,32426,0,0,0,44646,0,0,0,25868,0,0,0,39458,0,0,0,53334,0,0,0,5684,0,0,1,1069506,0,0,,,,,0,85316,0,0,1,58798,0,0 +17-43057009-T-A,17,43057009,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+43A>T,,c.5277+43A>T,intron_variant,,,,2,1415036,0.0000014133916027578098,0,0,nfe,3.1e-7,0.869,,0.00,0.00,-1.81,,,0,32426,0,0,0,44646,0,0,0,25868,0,0,0,39458,0,0,0,53334,0,0,0,5684,0,0,2,1069506,0,0,,,,,0,85316,0,0,0,58798,0,0 +17-43057009-T-G,17,43057009,rs770045451,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+43A>C,,c.5277+43A>C,intron_variant,,,,6,1566228,0.000003830859874807499,0,0,,,0.942,,0.00,0.00,-1.81,,,0,73452,0,0,0,59806,0,0,6,29328,0,0,0,44614,0,0,0,63826,0,0,0,5996,0,0,0,1137312,0,0,0,912,0,0,0,90104,0,0,0,60878,0,0 +17-43057010-G-C,17,43057010,rs537848419,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+42C>G,,c.5277+42C>G,intron_variant,,,,1,1417942,7.052474642827422e-7,0,0,,,1.50,,0.00,0.00,0.252,,,0,32496,0,0,0,44660,0,0,0,25904,0,0,0,39474,0,0,0,53348,0,0,0,5694,0,0,1,1072140,0,0,,,,,0,85358,0,0,0,58868,0,0 +17-43057010-G-T,17,43057010,rs537848419,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+42C>A,,c.5277+42C>A,intron_variant,Benign,1325652,,50,1570206,0.00003184295563766792,0,0,sas,0.00040244000000000006,1.18,,0.00,0.00,0.252,,,0,74048,0,0,0,59948,0,0,0,29374,0,0,0,44650,0,0,0,63954,0,0,0,5988,0,0,0,1140168,0,0,0,912,0,0,47,90186,0,0,3,60978,0,0 +17-43057011-G-T,17,43057011,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+41C>A,,c.5277+41C>A,intron_variant,,,,1,796736,0.0000012551208932444373,0,0,,,0.872,,0.00,0.00,-1.28,,,0,14978,0,0,0,952,0,0,0,4952,0,0,0,3448,0,0,0,260,0,0,0,1564,0,0,1,728824,0,0,,,,,0,15718,0,0,0,26040,0,0 +17-43057013-G-A,17,43057013,rs762779289,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+39C>T,,c.5277+39C>T,intron_variant,,,,3,1426788,0.000002102624916946316,0,0,nfe,7.399999999999999e-7,0.841,,0.00,0.00,-0.418,,,0,32752,0,0,0,44666,0,0,0,25964,0,0,0,39532,0,0,0,53354,0,0,0,5724,0,0,3,1080022,0,0,,,,,0,85598,0,0,0,59176,0,0 +17-43057015-G-A,17,43057015,rs1567764110,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+37C>T,,c.5277+37C>T,intron_variant,,,,3,1431032,0.0000020963891792776123,0,0,,,5.84,,0.00,0.00,0.00900,,,0,32844,0,0,0,44672,0,0,0,25972,0,0,0,39562,0,0,0,53356,0,0,0,5728,0,0,1,1083888,0,0,,,,,0,85708,0,0,2,59302,0,0 +17-43057020-G-C,17,43057020,rs371203180,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+32C>G,,c.5277+32C>G,intron_variant,,,,19,1605488,0.00001183440798062645,0,0,afr,0.00016585,6.03,,0.00,0.00,2.18,,,19,74840,0,0,0,60000,0,0,0,29544,0,0,0,44814,0,0,0,63992,0,0,0,6052,0,0,0,1172180,0,0,0,912,0,0,0,90900,0,0,0,62254,0,0 +17-43057020-G-T,17,43057020,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+32C>A,,c.5277+32C>A,intron_variant,,,,1,1453192,6.881403145627006e-7,0,0,,,5.67,,0.00,0.00,2.18,,,0,33274,0,0,0,44700,0,0,0,26074,0,0,0,39638,0,0,0,53376,0,0,0,5758,0,0,1,1104152,0,0,,,,,0,86078,0,0,0,60142,0,0 +17-43057026-TG-T,17,43057026,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+25del,,c.5277+25del,intron_variant,,,,1,1457954,6.858926962030352e-7,0,0,,,4.66,,0.00,0.00,-0.112,,,0,33414,0,0,0,44706,0,0,0,26104,0,0,0,39670,0,0,0,53376,0,0,0,5764,0,0,1,1108460,0,0,,,,,0,86178,0,0,0,60282,0,0 +17-43057026-T-C,17,43057026,rs761772015,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+26A>G,,c.5277+26A>G,intron_variant,,,,1,1457954,6.858926962030352e-7,0,0,,,9.09,,0.00,0.00,-0.112,,,0,33414,0,0,0,44706,0,0,0,26104,0,0,0,39670,0,0,0,53376,0,0,0,5764,0,0,0,1108460,0,0,,,,,1,86178,0,0,0,60282,0,0 +17-43057027-G-A,17,43057027,rs987728966,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+25C>T,,c.5277+25C>T,intron_variant,,,,1,152156,0.0000065722022135177055,0,0,,,6.80,,0.00,0.00,0.866,,,1,41436,0,0,0,15276,0,0,0,3468,0,0,0,5186,0,0,0,10622,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4822,0,0,0,2094,0,0 +17-43057028-T-C,17,43057028,rs375508764,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+24A>G,,c.5277+24A>G,intron_variant,,,,12,1612092,0.000007443743905434678,0,0,nfe,0.00000543,2.92,,0.00,0.00,0.214,,,0,74892,0,0,0,59986,0,0,0,29592,0,0,0,44870,0,0,0,64000,0,0,0,6082,0,0,12,1178290,0,0,0,912,0,0,0,91046,0,0,0,62422,0,0 +17-43057031-A-G,17,43057031,rs397509249,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+21T>C,,c.5277+21T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,0.673,,0.00,0.00,-0.643,,,1,41446,0,0,0,15270,0,0,0,3470,0,0,0,5184,0,0,0,10628,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43057032-C-T,17,43057032,rs766950602,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+20G>A,,c.5277+20G>A,intron_variant,Benign/Likely benign,220103,,3,152140,0.000019718680163007757,0,0,afr,0.0000192,0.983,,0.00,0.00,0.450,,,3,41422,0,0,0,15264,0,0,0,3468,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43057035-G-C,17,43057035,rs749918224,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+17C>G,,c.5277+17C>G,intron_variant,Likely benign,415598,,1,628518,0.0000015910443296771136,0,0,,,0.0490,,0.00,0.00,-0.667,,,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53110,0,0,0,4146,0,0,1,349938,0,0,,,,,0,69792,0,0,0,33080,0,0 +17-43057035-G-A,17,43057035,rs749918224,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+17C>T,,c.5277+17C>T,intron_variant,Likely benign,462667,,1,628518,0.0000015910443296771136,0,0,,,0.0520,,0.00,0.00,-0.667,,,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53110,0,0,0,4146,0,0,1,349938,0,0,,,,,0,69792,0,0,0,33080,0,0 +17-43057037-G-A,17,43057037,rs535279193,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5277+15C>T,,c.5277+15C>T,intron_variant,Likely benign,415608,,1,152164,0.000006571856680949502,0,0,,,0.657,,0.00,0.00,0.132,,,0,41440,0,0,0,15268,0,0,0,3470,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43057038-G-A,17,43057038,rs779721268,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+14C>T,,c.5277+14C>T,intron_variant,,,,1,628558,0.000001590943079238511,0,0,,,1.98,,0.00,0.00,-0.673,,,0,17690,0,0,0,43732,0,0,0,20974,0,0,0,36066,0,0,0,53118,0,0,0,4148,0,0,0,349958,0,0,,,,,1,69792,0,0,0,33080,0,0 +17-43057039-G-A,17,43057039,rs2153351132,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+13C>T,,c.5277+13C>T,intron_variant,,,,1,832824,0.0000012007338885526834,0,0,,,2.07,,0.00,0.00,-0.0850,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761630,0,0,,,,,0,16456,0,0,0,27294,0,0 +17-43057041-G-A,17,43057041,rs1555576819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+11C>T,,c.5277+11C>T,intron_variant,Likely benign,491103,,1,628558,0.000001590943079238511,0,0,,,1.45,,0.00,0.00,-0.493,,,0,17692,0,0,1,43730,0,0,0,20978,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,0,349956,0,0,,,,,0,69792,0,0,0,33080,0,0 +17-43057043-G-A,17,43057043,rs1356169081,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+9C>T,,c.5277+9C>T,intron_variant,not provided,868258,,1,1461556,6.842023158879988e-7,0,0,,,5.23,,0.00,0.00,0.165,,,0,33474,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53398,0,0,0,5766,0,0,1,1111744,0,0,,,,,0,86254,0,0,0,60378,0,0 +17-43057043-G-C,17,43057043,rs1356169081,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5277+9C>G,,c.5277+9C>G,intron_variant,Likely benign,531466,,3,1613704,0.000001859077005448335,0,0,nfe,6.800000000000001e-7,5.15,,0.00,0.00,0.165,,,0,74904,0,0,0,59980,0,0,0,29600,0,0,0,44886,0,0,0,64018,0,0,0,6082,0,0,3,1179770,0,0,0,912,0,0,0,91080,0,0,0,62472,0,0 +17-43057046-C-G,17,43057046,rs1057523590,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+6G>C,,c.5277+6G>C,intron_variant,Uncertain significance,867313,,1,628606,0.0000015908215957213262,0,0,,,0.171,,0.00,0.00,0.833,,,0,17692,0,0,0,43730,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,1,349984,0,0,,,,,0,69796,0,0,0,33082,0,0 +17-43057046-C-T,17,43057046,rs1057523590,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+6G>A,,c.5277+6G>A,intron_variant,Uncertain significance,867312,,1,628606,0.0000015908215957213262,0,0,,,0.226,,0.00,0.00,0.833,,,0,17692,0,0,1,43730,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,0,349984,0,0,,,,,0,69796,0,0,0,33082,0,0 +17-43057047-T-C,17,43057047,rs397509252,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+5A>G,,c.5277+5A>G,intron_variant,Conflicting interpretations of pathogenicity,867311,,1,628612,0.0000015908064115861614,0,0,,,3.28,,0.00,0.00,0.958,,,0,17692,0,0,0,43734,0,0,0,20980,0,0,1,36064,0,0,0,53128,0,0,0,4142,0,0,0,349990,0,0,,,,,0,69796,0,0,0,33086,0,0 +17-43057049-T-C,17,43057049,rs397509250,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+3A>G,,c.5277+3A>G,intron_variant,Conflicting interpretations of pathogenicity,628250,,7,833078,0.000008402574548841765,0,0,nfe,0.00000382,18.1,,0.0100,-0.0400,3.03,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761876,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43057051-C-T,17,43057051,rs80358150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5277+1G>A,,c.5277+1G>A,splice_donor_variant,Pathogenic,37654,,2,1461684,0.0000013682848002714677,0,0,nfe,2.999999999999999e-7,33.0,,0.990,-0.870,8.90,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39696,0,0,0,53400,0,0,0,5764,0,0,2,1111860,0,0,,,,,0,86254,0,0,0,60386,0,0 +17-43057052-C-A,17,43057052,rs80356854,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Asn,p.Lys1759Asn,c.5277G>T,missense_variant,Uncertain significance,232061,,1,1461708,6.841311671004058e-7,0,0,,,34.0,0.566,0.280,-0.290,5.97,0.00,0.273,0,33478,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86250,0,0,0,60386,0,0 +17-43057052-C-T,17,43057052,rs80356854,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Lys,p.Lys1759Lys,c.5277G>A,splice_region_variant,Conflicting interpretations of pathogenicity,55499,,6,1461708,0.0000041047870026024345,0,0,sas,0.00002995,22.3,,0.140,-0.180,5.97,,,0,33478,0,0,0,44718,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,0,1111876,0,0,,,,,6,86250,0,0,0,60386,0,0 +17-43057053-T-C,17,43057053,rs431825415,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Arg,p.Lys1759Arg,c.5276A>G,missense_variant,Conflicting interpretations of pathogenicity,96947,,3,1461702,0.0000020524019259739673,0,0,nfe,2.999999999999999e-7,31.0,0.691,0.0100,-0.0500,1.40,0.0100,0.144,0,33476,0,0,0,44718,0,0,0,26132,0,0,0,39696,0,0,0,53406,0,0,0,5768,0,0,2,1111868,0,0,,,,,0,86256,0,0,1,60382,0,0 +17-43057054-T-A,17,43057054,rs2051496536,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1759Ter,p.Lys1759Ter,c.5275A>T,stop_gained,not provided,868248,,1,833064,0.0000012003879653904143,0,0,,,46.0,,0.0100,-0.0500,2.32,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761858,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43057055-T-C,17,43057055,rs758739620,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1758Arg,p.Arg1758Arg,c.5274A>G,synonymous_variant,Likely benign,232795,,6,628656,0.000009544170420707032,0,0,nfe,0.00000716,7.12,,0.00,-0.0100,0.885,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,6,350018,0,0,,,,,0,69796,0,0,0,33090,0,0 +17-43057057-T-C,17,43057057,rs1597810455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1758Gly,p.Arg1758Gly,c.5272A>G,missense_variant,Uncertain significance,656220,,4,1461734,0.0000027364759935802273,0,0,nfe,2.999999999999999e-7,16.4,0.557,0.00,0.00,2.16,0.290,0.0350,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,2,1111890,0,0,,,,,0,86254,0,0,2,60388,0,0 +17-43057058-G-A,17,43057058,rs1597810460,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1757Asp,p.Asp1757Asp,c.5271C>T,synonymous_variant,not provided,867300,,1,628652,0.0000015907051914254627,0,0,,,6.28,,0.00,-0.0100,2.04,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53130,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69796,0,0,0,33086,0,0 +17-43057060-C-G,17,43057060,rs863224764,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1757His,p.Asp1757His,c.5269G>C,missense_variant,Conflicting interpretations of pathogenicity,216674,,1,833090,0.0000012003505023466853,0,0,,,23.3,0.564,0.00,0.00,2.98,0.0200,0.462,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43057062-T-TG,17,43057062,rs80357906,T,TG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1756ProfsTer74,p.Gln1756ProfsTer74,c.5266dup,frameshift_variant,Pathogenic,17677,,109,1613912,0.00006753775918389602,0,0,nfe,0.00004346,33.0,,0.00,0.00,-1.67,,,1,74930,0,0,0,59992,0,0,35,29592,0,0,0,44888,0,0,0,64028,0,0,0,6084,0,0,64,1179926,0,0,0,912,0,0,0,91080,0,0,9,62480,0,0 +17-43057063-G-C,17,43057063,rs397509247,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1756Glu,p.Gln1756Glu,c.5266C>G,missense_variant,not provided,868240,,1,833080,0.0000012003649109329235,0,0,,,21.5,0.517,0.00,0.00,2.41,0.0400,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761874,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43057069-C-G,17,43057069,rs80357432,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1754Gln,p.Glu1754Gln,c.5260G>C,missense_variant,Conflicting interpretations of pathogenicity,462666,,24,1461786,0.000016418271894791713,0,0,sas,0.00019168999999999998,24.2,0.536,0.00,0.00,5.97,0.130,0.0440,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53414,0,0,0,5764,0,0,0,1111934,0,0,,,,,24,86248,0,0,0,60392,0,0 +17-43057069-C-A,17,43057069,rs80357432,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1754Ter,p.Glu1754Ter,c.5260G>T,stop_gained,Pathogenic,55489,,1,1461786,6.84094662282988e-7,0,0,,,44.0,,0.00,-0.0100,5.97,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53414,0,0,0,5764,0,0,0,1111934,0,0,,,,,0,86248,0,0,1,60392,0,0 +17-43057070-T-C,17,43057070,rs771577266,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1753Arg,p.Arg1753Arg,c.5259A>G,synonymous_variant,Likely benign,187571,,4,1461778,0.000002736393624750133,0,0,nfe,8.4e-7,12.3,,0.00,-0.0100,1.98,,,0,33480,0,0,0,44724,0,0,0,26126,0,0,0,39696,0,0,0,53416,0,0,0,5764,0,0,4,1111926,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43057074-G-C,17,43057074,rs80357028,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1752Gly,p.Ala1752Gly,c.5255C>G,missense_variant,Uncertain significance,482908,,5,628692,0.000007953019920724297,0,0,eas,0.00005408999999999997,26.6,0.637,0.00,0.00,8.79,0.00,0.0520,0,17694,0,0,0,43740,0,0,0,20980,0,0,5,36070,0,0,0,53140,0,0,0,4146,0,0,0,350028,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43057077-C-T,17,43057077,rs80357442,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1751Gln,p.Arg1751Gln,c.5252G>A,missense_variant,Benign,55481,,78,1613922,0.00004832947317156591,0,0,nfe,0.00004946,27.2,0.683,0.00,0.00,5.93,0.00,0.0500,2,74906,0,0,3,59980,0,0,0,29604,0,0,0,44894,0,0,0,64016,0,0,0,6078,0,0,72,1179972,0,0,0,912,0,0,0,91078,0,0,1,62482,0,0 +17-43057078-G-A,17,43057078,rs80357123,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1751Ter,p.Arg1751Ter,c.5251C>T,stop_gained,Pathogenic,55480,,6,780812,0.00000768430813051029,0,0,nfe,0.0000019100000000000003,41.0,,0.0100,0.0200,2.30,,,1,59118,0,0,0,58996,0,0,0,24446,0,0,1,41258,0,0,1,63746,0,0,0,4458,0,0,3,418064,0,0,0,912,0,0,0,74630,0,0,0,35184,0,0 +17-43057078-G-T,17,43057078,rs80357123,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg1751Arg,p.Arg1751Arg,c.5251C>A,synonymous_variant,Likely benign,433727,,1,152116,0.000006573930421520419,0,0,,,9.57,,0.00,-0.0100,2.30,,,1,41428,0,0,0,15256,0,0,0,3470,0,0,0,5190,0,0,0,10606,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43057080-T-C,17,43057080,rs2051506626,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1750Arg,p.Lys1750Arg,c.5249A>G,missense_variant,Likely benign,867277,,1,833108,0.0000012003245677631232,0,0,,,17.5,0.467,0.00,0.00,1.97,0.360,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43057087-C-A,17,43057087,rs397507245,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1748Cys,p.Gly1748Cys,c.5242G>T,missense_variant,Conflicting interpretations of pathogenicity,37650,,1,628722,0.0000015905280871354907,0,0,,,27.7,0.738,0.00,0.00,7.13,0.00,0.711,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4146,0,0,0,350062,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43057090-G-A,17,43057090,rs80357367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1747Ter,p.Gln1747Ter,c.5239C>T,stop_gained,Pathogenic,55473,,1,628722,0.0000015905280871354907,0,0,,,43.0,,0.00,-0.0200,5.86,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4142,0,0,1,350064,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43057093-G-T,17,43057093,rs80357146,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1746Asn,p.His1746Asn,c.5236C>A,missense_variant,Uncertain significance,55472,,1,833106,0.0000012003274493281767,0,0,,,26.6,0.584,0.00,0.00,8.79,0.00,0.186,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43057098-CTT-C,17,43057098,rs80357852,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1744LysfsTer85,p.Arg1744LysfsTer85,c.5229_5230del,frameshift_variant,Pathogenic,55469,,1,833110,0.0000012003216862119048,0,0,,,34.0,,0.00,0.00,7.13,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43057101-C-G,17,43057101,rs1346819781,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1743Ala,p.Gly1743Ala,c.5228G>C,missense_variant,Uncertain significance,496391,,4,985162,0.000004060245929095925,0,0,amr,0.00004986,26.6,0.655,0.00,0.00,8.90,0.00,0.0850,1,57190,0,0,3,16226,0,0,0,8620,0,0,0,8812,0,0,0,10878,0,0,0,1936,0,0,0,829922,0,0,0,912,0,0,0,21280,0,0,0,29386,0,0 +17-43057104-T-C,17,43057104,rs864622104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1742Ser,p.Asn1742Ser,c.5225A>G,missense_variant,Conflicting interpretations of pathogenicity,219464,,1,833110,0.0000012003216862119048,0,0,,,24.9,0.585,0.00,0.00,3.10,0.0100,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43057105-T-C,17,43057105,rs1597810828,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1742Asp,p.Asn1742Asp,c.5224A>G,missense_variant,Uncertain significance,825568,,2,628706,0.000003181137129278232,0,0,,,27.2,0.592,0.00,0.00,6.36,0.0100,0.0930,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,1,350046,0,0,,,,,1,69798,0,0,0,33096,0,0 +17-43057108-C-T,17,43057108,rs876659122,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1741Ile,p.Val1741Ile,c.5221G>A,missense_variant,Conflicting interpretations of pathogenicity,231376,,1,628694,0.0000015905989241188878,0,0,,,2.46,0.511,0.00,0.00,-0.0770,1.00,0.0130,1,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4144,0,0,0,350038,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43057113-T-C,17,43057113,rs80357227,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1739Gly,p.Asp1739Gly,c.5216A>G,missense_variant,Likely pathogenic,55465,,1,833100,0.0000012003360941063497,0,0,,,31.0,0.778,0.00,0.00,6.36,0.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43057114-C-T,17,43057114,rs80357283,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1739Asn,p.Asp1739Asn,c.5215G>A,missense_variant,Conflicting interpretations of pathogenicity,479223,,2,628686,0.000003181238328831881,0,0,nfe,9.5e-7,28.8,0.566,0.00,0.00,8.90,0.00,0.00300,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4144,0,0,2,350032,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43057118-T-C,17,43057118,rs1555576963,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1737Arg,p.Arg1737Arg,c.5211A>G,synonymous_variant,Conflicting interpretations of pathogenicity,531477,,2,1461758,0.0000013682155322563652,0,0,amr,0.000007410000000000001,14.7,,0.00,-0.0100,1.83,,,0,33480,0,0,2,44722,0,0,0,26130,0,0,0,39694,0,0,0,53412,0,0,0,5766,0,0,0,1111904,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43057122-A-G,17,43057122,rs45553935,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1736Ala,p.Val1736Ala,c.5207T>C,missense_variant,Pathogenic,37648,,13,1461754,0.000008893425295911625,0,0,nfe,0.00000575,28.3,0.827,0.00,0.00,6.33,0.00,0.320,0,33478,0,0,0,44718,0,0,0,26130,0,0,0,39694,0,0,0,53414,0,0,0,5762,0,0,12,1111908,0,0,,,,,0,86256,0,0,1,60394,0,0 +17-43057123-C-A,17,43057123,rs377595653,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1736Phe,p.Val1736Phe,c.5206G>T,missense_variant,Likely pathogenic,867843,,1,628656,0.0000015906950701178388,0,0,,,27.7,0.794,0.00,0.0100,8.90,0.00,0.778,0,17694,0,0,0,43736,0,0,1,20978,0,0,0,36066,0,0,0,53134,0,0,0,4142,0,0,0,350012,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43057125-T-A,17,43057125,rs2051527499,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1735Val,p.Glu1735Val,c.5204A>T,missense_variant,not provided,867515,,1,628632,0.0000015907557998956464,0,0,,,33.0,0.871,0.00,0.0100,6.36,0.00,0.00,0,17692,0,0,0,43736,0,0,0,20974,0,0,0,36066,0,0,0,53138,0,0,0,4142,0,0,0,349992,0,0,,,,,1,69796,0,0,0,33096,0,0 +17-43057131-T-C,17,43057131,rs80357270,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1733Gly,p.Asp1733Gly,c.5198A>G,missense_variant,Benign,55453,,91,1613744,0.000056390604705579075,0,0,nfe,0.00005958,22.9,0.759,0.00,0.00,2.95,0.0400,0.279,4,74872,0,0,0,59960,0,0,0,29594,0,0,0,44878,0,0,0,64020,0,0,0,6082,0,0,85,1179866,0,0,0,912,0,0,0,91086,0,0,2,62474,0,0 +17-43057131-T-A,17,43057131,rs80357270,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1733Val,p.Asp1733Val,c.5198A>T,missense_variant,Uncertain significance,491101,,51,1613744,0.00003160352571411574,0,0,,,24.6,0.721,0.00,0.00,2.95,0.00,0.165,0,74872,0,0,0,59960,0,0,0,29594,0,0,0,44878,0,0,49,64020,0,0,0,6082,0,0,2,1179866,0,0,0,912,0,0,0,91086,0,0,0,62474,0,0 +17-43057134-T-C,17,43057134,rs1597811076,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1732Arg,p.His1732Arg,c.5195A>G,missense_variant,Conflicting interpretations of pathogenicity,653572,,2,1461650,0.0000013683166284678274,0,0,nfe,2.999999999999999e-7,18.1,0.518,0.00,-0.0100,-0.417,0.180,0.0300,0,33476,0,0,0,44720,0,0,0,26124,0,0,0,39694,0,0,0,53404,0,0,0,5764,0,0,2,1111830,0,0,,,,,0,86254,0,0,0,60384,0,0 +17-43057135-G-A,17,43057135,rs2051531560,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1732Tyr,p.His1732Tyr,c.5194C>T,missense_variant,not provided,867502,,1,832976,0.0000012005147807379804,0,0,,,21.9,0.613,0.00,0.00,1.53,0.310,0.0460,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,1,761788,0,0,,,,,0,16452,0,0,0,27296,0,0 +17-43057137-TG-T,17,43057137,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-3del,,c.5194-3del,splice_region_variant,Uncertain significance,2010778,,1,832956,0.0000012005436061448623,0,0,,,13.3,,0.0100,-0.0200,6.36,,,0,15784,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761764,0,0,,,,,0,16454,0,0,0,27296,0,0 +17-43057138-G-A,17,43057138,rs2051532279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-3C>T,,c.5194-3C>T,splice_region_variant,not provided,865148,,1,628554,0.0000015909532037024663,0,0,,,13.6,,0.00,0.00,3.45,,,0,17690,0,0,0,43734,0,0,0,20968,0,0,0,36064,0,0,0,53126,0,0,0,4138,0,0,1,349956,0,0,,,,,0,69792,0,0,0,33086,0,0 +17-43057147-C-T,17,43057147,rs80358079,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-12G>A,,c.5194-12G>A,intron_variant,Pathogenic,55451,,2,831444,0.0000024054536445028166,0,0,nfe,4.4e-7,29.8,,0.960,0.830,4.71,,,0,15752,0,0,0,984,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,760370,0,0,,,,,0,16426,0,0,0,27252,0,0 +17-43057148-A-G,17,43057148,rs199527524,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-13T>C,,c.5194-13T>C,intron_variant,Likely benign,1581551,,2,628472,0.0000031823215672297255,0,0,nfe,9.5e-7,17.4,,0.00,-0.0100,2.44,,,0,17686,0,0,0,43730,0,0,0,20958,0,0,0,36064,0,0,0,53116,0,0,0,4134,0,0,2,349916,0,0,,,,,0,69794,0,0,0,33074,0,0 +17-43057149-A-T,17,43057149,rs1567764689,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-14T>A,,c.5194-14T>A,intron_variant,Likely benign,570096,,1,1459684,6.850797843916902e-7,0,0,,,16.9,,0.00,-0.0100,2.18,,,1,33438,0,0,0,44712,0,0,0,26096,0,0,0,39684,0,0,0,53394,0,0,0,5754,0,0,0,1110084,0,0,,,,,0,86210,0,0,0,60312,0,0 +17-43057149-AAC-A,17,43057149,rs1360158770,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-16_5194-15del,,c.5194-16_5194-15del,intron_variant,Likely benign,1058977,,1,1459684,6.850797843916902e-7,0,0,,,7.41,,0.00,-0.0100,2.18,,,0,33438,0,0,1,44712,0,0,0,26096,0,0,0,39684,0,0,0,53394,0,0,0,5754,0,0,0,1110084,0,0,,,,,0,86210,0,0,0,60312,0,0 +17-43057151-C-T,17,43057151,rs368058346,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-16G>A,,c.5194-16G>A,intron_variant,Benign/Likely benign,633090,,4,1610786,0.000002483259725376307,0,0,afr,0.000017480000000000002,5.47,,0.00,-0.0100,-1.02,,,4,74824,0,0,0,59970,0,0,0,29548,0,0,0,44866,0,0,0,63998,0,0,0,6062,0,0,0,1177214,0,0,0,912,0,0,0,91026,0,0,0,62366,0,0 +17-43057151-C-A,17,43057151,rs368058346,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-16G>T,,c.5194-16G>T,intron_variant,,,,1,1458654,6.855635400855857e-7,0,0,,,3.77,,0.00,0.00,-1.02,,,0,33408,0,0,0,44706,0,0,0,26078,0,0,0,39680,0,0,0,53390,0,0,0,5746,0,0,1,1109180,0,0,,,,,0,86194,0,0,0,60272,0,0 +17-43057152-A-G,17,43057152,rs768462633,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-17T>C,,c.5194-17T>C,intron_variant,Likely benign,415589,,1,628388,0.0000015913734826253844,0,0,,,9.52,,0.00,-0.0100,0.121,,,0,17680,0,0,0,43728,0,0,0,20952,0,0,0,36058,0,0,0,53110,0,0,0,4134,0,0,1,349874,0,0,,,,,0,69790,0,0,0,33062,0,0 +17-43057153-C-G,17,43057153,rs80358090,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-18G>C,,c.5194-18G>C,intron_variant,,,,1,1458730,6.855278221466618e-7,0,0,,,12.5,,0.00,0.00,2.92,,,0,33410,0,0,0,44708,0,0,0,26082,0,0,0,39682,0,0,0,53392,0,0,0,5748,0,0,1,1109248,0,0,,,,,0,86194,0,0,0,60266,0,0 +17-43057153-C-A,17,43057153,rs80358090,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-18G>T,,c.5194-18G>T,intron_variant,Benign/Likely benign,125803,,50,1610960,0.00003103739385211303,0,0,afr,0.00043690000000000016,12.3,,0.00,0.00,2.92,,,43,74946,0,0,3,59992,0,0,0,29554,0,0,0,44856,0,0,0,63998,0,0,0,6042,0,0,0,1177272,0,0,0,912,0,0,0,91008,0,0,4,62380,0,0 +17-43057156-C-T,17,43057156,rs2051535489,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-21G>A,,c.5194-21G>A,intron_variant,,,,2,981612,0.000002037464904667017,0,0,,,10.3,,0.00,0.00,0.596,,,0,57138,0,0,0,16240,0,0,0,8596,0,0,0,8810,0,0,0,10874,0,0,0,1934,0,0,2,826606,0,0,0,912,0,0,0,21236,0,0,0,29266,0,0 +17-43057157-C-T,17,43057157,rs1331698634,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-22G>A,,c.5194-22G>A,intron_variant,,,,1,1457180,6.862570169779986e-7,0,0,,,10.8,,0.00,0.00,-0.129,,,0,33366,0,0,1,44706,0,0,0,26076,0,0,0,39672,0,0,0,53380,0,0,0,5740,0,0,0,1107882,0,0,,,,,0,86162,0,0,0,60196,0,0 +17-43057160-T-G,17,43057160,rs2153407368,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-25A>C,,c.5194-25A>C,intron_variant,,,,4,1456268,0.0000027467471646702393,0,0,nfe,8.500000000000001e-7,8.73,,0.0100,-0.0300,-0.116,,,0,33350,0,0,0,44702,0,0,0,26062,0,0,0,39658,0,0,0,53368,0,0,0,5732,0,0,4,1107074,0,0,,,,,0,86152,0,0,0,60170,0,0 +17-43057161-C-T,17,43057161,rs761683937,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-26G>A,,c.5194-26G>A,intron_variant,,,,5,1455752,0.0000034346509570311426,0,0,nfe,8.500000000000001e-7,6.94,,0.00,0.00,-1.41,,,0,33346,0,0,0,44700,0,0,0,26060,0,0,0,39654,0,0,0,53374,0,0,0,5732,0,0,4,1106630,0,0,,,,,0,86122,0,0,1,60134,0,0 +17-43057162-A-G,17,43057162,rs1476380620,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-27T>C,,c.5194-27T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,10.8,,0.0100,-0.0200,0.113,,,0,41432,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43057165-A-G,17,43057165,rs767435205,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-30T>C,,c.5194-30T>C,intron_variant,,,,27,1606442,0.000016807329489642327,0,0,nfe,0.000014619999999999999,5.39,,0.00,0.00,-0.773,,,0,74700,0,0,1,59954,0,0,0,29516,0,0,0,44840,0,0,0,63956,0,0,1,6030,0,0,25,1173430,0,0,0,912,0,0,0,90934,0,0,0,62170,0,0 +17-43057166-T-A,17,43057166,rs1379724770,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-31A>T,,c.5194-31A>T,intron_variant,,,,1,628056,0.0000015922147069688053,0,0,,,15.3,,0.00,0.00,1.56,,,0,17674,0,0,1,43714,0,0,0,20950,0,0,0,36054,0,0,0,53082,0,0,0,4098,0,0,0,349684,0,0,,,,,0,69770,0,0,0,33030,0,0 +17-43057167-A-C,17,43057167,rs750396716,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-32T>G,,c.5194-32T>G,intron_variant,,,,3,1448800,0.000002070679182771949,0,0,nfe,7.3e-7,16.2,,0.00,0.00,1.22,,,0,33176,0,0,0,44674,0,0,0,26016,0,0,0,39610,0,0,0,53346,0,0,0,5680,0,0,3,1100430,0,0,,,,,0,85984,0,0,0,59884,0,0 +17-43057167-A-G,17,43057167,rs750396716,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-32T>C,,c.5194-32T>C,intron_variant,,,,1,1448800,6.902263942573164e-7,0,0,,,16.4,,0.00,0.00,1.22,,,0,33176,0,0,0,44674,0,0,0,26016,0,0,0,39610,0,0,0,53346,0,0,0,5680,0,0,1,1100430,0,0,,,,,0,85984,0,0,0,59884,0,0 +17-43057169-G-A,17,43057169,rs760208409,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-34C>T,,c.5194-34C>T,intron_variant,Likely benign,810894,,10,1600986,0.000006246150809563607,0,0,afr,0.00001068,16.8,,0.00,0.00,1.91,,,3,74614,0,0,0,59958,0,0,0,29494,0,0,0,44800,0,0,0,63966,0,0,0,6000,0,0,7,1168478,0,0,0,912,0,0,0,90786,0,0,0,61978,0,0 +17-43057169-G-C,17,43057169,rs760208409,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-34C>G,,c.5194-34C>G,intron_variant,,,,6,1600986,0.000003747690485738164,0,0,nfe,8e-7,16.4,,0.00,0.00,1.91,,,0,74614,0,0,0,59958,0,0,0,29494,0,0,0,44800,0,0,2,63966,0,0,0,6000,0,0,4,1168478,0,0,0,912,0,0,0,90786,0,0,0,61978,0,0 +17-43057171-G-A,17,43057171,rs765826347,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-36C>T,,c.5194-36C>T,intron_variant,,,,1,1446702,6.912273571198491e-7,0,0,,,17.2,,0.00,0.00,0.636,,,0,33130,0,0,0,44684,0,0,0,26002,0,0,0,39598,0,0,0,53350,0,0,0,5668,0,0,0,1098510,0,0,,,,,0,85942,0,0,1,59818,0,0 +17-43057171-G-C,17,43057171,rs765826347,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-36C>G,,c.5194-36C>G,intron_variant,,,,1,1446702,6.912273571198491e-7,0,0,,,16.8,,0.00,0.00,0.636,,,0,33130,0,0,0,44684,0,0,0,26002,0,0,0,39598,0,0,0,53350,0,0,0,5668,0,0,1,1098510,0,0,,,,,0,85942,0,0,0,59818,0,0 +17-43057180-G-A,17,43057180,rs2153409059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-45C>T,,c.5194-45C>T,intron_variant,,,,2,806368,0.0000024802571530616294,0,0,nfe,4.4999999999999993e-7,15.9,,0.00,0.00,0.461,,,0,15250,0,0,0,960,0,0,0,5002,0,0,0,3512,0,0,0,270,0,0,0,1572,0,0,2,737530,0,0,,,,,0,15914,0,0,0,26358,0,0 +17-43057181-C-A,17,43057181,rs2153409147,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-46G>T,,c.5194-46G>T,intron_variant,,,,1,627382,0.00000159392523215521,0,0,,,7.22,,0.00,0.00,-0.335,,,0,17646,0,0,0,43694,0,0,0,20932,0,0,0,36018,0,0,0,53034,0,0,0,4022,0,0,0,349314,0,0,,,,,1,69736,0,0,0,32986,0,0 +17-43057182-T-A,17,43057182,rs1211201107,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-47A>T,,c.5194-47A>T,intron_variant,,,,1,1425152,7.016795401472966e-7,0,0,,,8.31,,0.00,0.00,-2.07,,,0,32736,0,0,1,44636,0,0,0,25888,0,0,0,39460,0,0,0,53300,0,0,0,5570,0,0,0,1079050,0,0,,,,,0,85468,0,0,0,59044,0,0 +17-43057184-C-T,17,43057184,rs753487581,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-49G>A,,c.5194-49G>A,intron_variant,,,,2,1420962,0.0000014074971744494223,0,0,,,12.4,,0.00,0.00,1.08,,,0,32656,0,0,1,44614,0,0,0,25862,0,0,0,39450,0,0,0,53286,0,0,0,5542,0,0,1,1075262,0,0,,,,,0,85388,0,0,0,58902,0,0 +17-43057186-T-G,17,43057186,rs920642854,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-51A>C,,c.5194-51A>C,intron_variant,,,,1,152090,0.000006575054244197515,0,0,,,13.1,,0.00,0.00,0.368,,,0,41412,0,0,1,15262,0,0,0,3466,0,0,0,5186,0,0,0,10616,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 +17-43057188-C-T,17,43057188,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-53G>A,,c.5194-53G>A,intron_variant,,,,1,1403510,7.124993765630455e-7,0,0,,,12.6,,0.00,0.00,0.561,,,0,32348,0,0,0,44604,0,0,0,25742,0,0,0,39324,0,0,0,53252,0,0,0,5416,0,0,1,1059568,0,0,,,,,0,85002,0,0,0,58254,0,0 +17-43057188-C-A,17,43057188,rs1777819825,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-53G>T,,c.5194-53G>T,intron_variant,,,,2,1555602,0.0000012856758991052982,0,0,,,11.9,,0.00,0.00,0.561,,,0,73772,0,0,0,59854,0,0,0,29210,0,0,0,44512,0,0,0,63864,0,0,0,5732,0,0,0,1127578,0,0,0,912,0,0,2,89822,0,0,0,60346,0,0 +17-43057190-A-G,17,43057190,rs1451192673,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-55T>C,,c.5194-55T>C,intron_variant,,,,10,1547436,0.000006462302802829972,0,0,nfe,0.0000030700000000000003,2.58,,0.00,0.00,-2.92,,,0,73546,0,0,0,59836,0,0,0,29168,0,0,0,44478,0,0,1,63852,0,0,0,5666,0,0,8,1120292,0,0,0,912,0,0,1,89634,0,0,0,60052,0,0 +17-43057191-T-C,17,43057191,rs2153410034,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-56A>G,,c.5194-56A>G,intron_variant,,,,3,1394400,0.000002151462994836489,0,0,nfe,3.200000000000001e-7,14.1,,0.00,0.00,-0.141,,,0,32126,0,0,0,44590,0,0,0,25702,0,0,0,39284,0,0,0,53254,0,0,0,5344,0,0,2,1051362,0,0,,,,,0,84802,0,0,1,57936,0,0 +17-43057193-G-A,17,43057193,rs2153410241,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-58C>T,,c.5194-58C>T,intron_variant,,,,1,1384048,7.225182941632083e-7,0,0,,,10.5,,0.00,0.00,0.657,,,0,31922,0,0,0,44560,0,0,0,25638,0,0,0,39218,0,0,0,53234,0,0,0,5290,0,0,1,1041954,0,0,,,,,0,84590,0,0,0,57642,0,0 +17-43057194-A-C,17,43057194,rs2153410344,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-59T>G,,c.5194-59T>G,intron_variant,,,,1,152212,0.000006569784248285286,0,0,,,11.6,,0.00,0.00,0.528,,,0,41538,0,0,1,15268,0,0,0,3468,0,0,0,5178,0,0,0,10606,0,0,0,294,0,0,0,68018,0,0,0,912,0,0,0,4816,0,0,0,2114,0,0 +17-43057196-G-A,17,43057196,rs2153410529,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-61C>T,,c.5194-61C>T,intron_variant,,,,1,626118,0.0000015971430305469577,0,0,,,9.01,,0.00,0.00,1.20,,,0,17606,0,0,0,43668,0,0,0,20916,0,0,0,35978,0,0,0,52960,0,0,0,3800,0,0,1,348674,0,0,,,,,0,69636,0,0,0,32880,0,0 +17-43057196-G-C,17,43057196,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-61C>G,,c.5194-61C>G,intron_variant,,,,1,626118,0.0000015971430305469577,0,0,,,9.02,,0.00,0.00,1.20,,,0,17606,0,0,1,43668,0,0,0,20916,0,0,0,35978,0,0,0,52960,0,0,0,3800,0,0,0,348674,0,0,,,,,0,69636,0,0,0,32880,0,0 +17-43057197-T-C,17,43057197,rs2153410599,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-62A>G,,c.5194-62A>G,intron_variant,,,,1,626090,0.0000015972144579852738,0,0,,,11.3,,0.00,0.00,-0.366,,,0,17614,0,0,0,43670,0,0,0,20912,0,0,0,35966,0,0,0,52982,0,0,0,3782,0,0,0,348672,0,0,,,,,1,69624,0,0,0,32868,0,0 +17-43057198-G-T,17,43057198,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-63C>A,,c.5194-63C>A,intron_variant,,,,1,1358994,7.358384216560191e-7,0,0,,,9.25,,0.0100,0.00,-0.869,,,0,31442,0,0,0,44514,0,0,0,25504,0,0,0,39082,0,0,0,53194,0,0,0,5178,0,0,1,1019346,0,0,,,,,0,83994,0,0,0,56740,0,0 +17-43057202-C-G,17,43057202,rs2051538135,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-67G>C,,c.5194-67G>C,intron_variant,,,,1,1341396,7.454920098166388e-7,0,0,,,5.99,,0.00,0.00,-0.882,,,0,31082,0,0,0,44466,0,0,0,25324,0,0,0,38972,0,0,0,53108,0,0,0,5050,0,0,0,1003622,0,0,,,,,1,83644,0,0,0,56128,0,0 +17-43057202-C-A,17,43057202,rs2051538135,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-67G>T,,c.5194-67G>T,intron_variant,,,,17,1341396,0.00001267336416688286,0,0,nfe,0.00001032,5.80,,0.00,0.00,-0.882,,,0,31082,0,0,0,44466,0,0,0,25324,0,0,0,38972,0,0,0,53108,0,0,0,5050,0,0,17,1003622,0,0,,,,,0,83644,0,0,0,56128,0,0 +17-43057206-C-T,17,43057206,rs929323416,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-71G>A,,c.5194-71G>A,intron_variant,,,,138,1487422,0.00009277797423999376,0,0,nfe,0.0001091,1.73,,0.00,0.00,-0.136,,,1,72364,0,0,0,59704,0,0,0,28768,0,0,0,44140,0,0,0,63686,0,0,0,5314,0,0,135,1066122,0,0,0,912,0,0,0,88334,0,0,2,58078,0,0 +17-43057207-A-G,17,43057207,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-72T>C,,c.5194-72T>C,intron_variant,,,,1,624658,0.0000016008759993468427,0,0,,,4.38,,0.00,0.00,0.941,,,0,17572,0,0,1,43630,0,0,0,20878,0,0,0,35938,0,0,0,52852,0,0,0,3582,0,0,0,347982,0,0,,,,,0,69462,0,0,0,32762,0,0 +17-43057208-C-T,17,43057208,rs554045950,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5194-73G>A,,c.5194-73G>A,intron_variant,,,,53,1480996,0.00003578672731053966,0,0,nfe,0.00002843,0.0180,,0.00,0.00,-3.82,,,1,72348,0,0,0,59706,0,0,0,28714,0,0,1,44066,0,0,0,63630,0,0,0,5234,0,0,40,1060390,0,0,0,912,0,0,4,88120,0,0,7,57876,0,0 +17-43057209-G-C,17,43057209,rs1463949080,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5194-74C>G,,c.5194-74C>G,intron_variant,,,,1,152016,0.00000657825492053468,0,0,,,0.570,,0.00,0.00,0.572,,,0,41400,0,0,1,15252,0,0,0,3466,0,0,0,5182,0,0,0,10592,0,0,0,316,0,0,0,67994,0,0,0,912,0,0,0,4810,0,0,0,2092,0,0 +17-43057209-G-A,17,43057209,rs1463949080,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5194-74C>T,,c.5194-74C>T,intron_variant,,,,3,1321708,0.000002269790301639999,0,0,nfe,3.399999999999999e-7,0.446,,0.00,0.00,0.572,,,0,30646,0,0,0,44398,0,0,0,25184,0,0,0,38862,0,0,0,53002,0,0,0,4906,0,0,2,985990,0,0,,,,,0,83204,0,0,1,55516,0,0 +17-43063258-G-A,17,43063258,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+75C>T,,c.5193+75C>T,intron_variant,,,,1,1109006,9.017083766904777e-7,0,0,,,11.8,,0.00,0.0100,-0.227,,,0,26156,0,0,0,42406,0,0,0,23808,0,0,0,37440,0,0,0,52120,0,0,0,4394,0,0,1,796758,0,0,,,,,0,77400,0,0,0,48524,0,0 +17-43063262-G-T,17,43063262,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+71C>A,,c.5193+71C>A,intron_variant,,,,2,1145064,0.000001746627262755619,0,0,,,14.0,,0.00,0.0100,1.26,,,0,26906,0,0,0,42986,0,0,0,24006,0,0,1,37780,0,0,0,52424,0,0,0,4554,0,0,1,828286,0,0,,,,,0,78416,0,0,0,49706,0,0 +17-43063265-A-AG,17,43063265,rs2051845570,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+67dup,,c.5193+67dup,intron_variant,,,,4,1170910,0.000003416146416035391,0,0,nfe,0.0000011000000000000003,13.2,,0.00,0.0100,2.31,,,0,27520,0,0,0,43480,0,0,0,24228,0,0,0,38018,0,0,0,52658,0,0,0,4680,0,0,4,850488,0,0,,,,,0,79154,0,0,0,50684,0,0 +17-43063267-C-G,17,43063267,rs2051845747,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+66G>C,,c.5193+66G>C,intron_variant,,,,1,1193042,8.381934584029732e-7,0,0,,,4.14,,0.00,0.0100,0.374,,,0,27964,0,0,0,43686,0,0,0,24376,0,0,0,38190,0,0,0,52782,0,0,0,4790,0,0,1,870124,0,0,,,,,0,79742,0,0,0,51388,0,0 +17-43063271-T-C,17,43063271,rs2051846021,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+62A>G,,c.5193+62A>G,intron_variant,,,,2,1235850,0.0000016183193753287211,0,0,nfe,3.7000000000000006e-7,5.54,,0.00,0.00,-1.99,,,0,28816,0,0,0,44038,0,0,0,24736,0,0,0,38502,0,0,0,52964,0,0,0,5010,0,0,2,908114,0,0,,,,,0,80858,0,0,0,52812,0,0 +17-43063271-T-A,17,43063271,rs2051846021,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+62A>T,,c.5193+62A>T,intron_variant,,,,1,1235850,8.091596876643606e-7,0,0,,,4.85,,0.00,0.0100,-1.99,,,0,28816,0,0,0,44038,0,0,0,24736,0,0,0,38502,0,0,0,52964,0,0,0,5010,0,0,1,908114,0,0,,,,,0,80858,0,0,0,52812,0,0 +17-43063273-C-T,17,43063273,rs2153547729,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+60G>A,,c.5193+60G>A,intron_variant,,,,1,624144,0.0000016021943654028557,0,0,,,8.02,,0.00,0.00,-1.22,,,0,17536,0,0,0,43374,0,0,0,20872,0,0,1,35884,0,0,0,52764,0,0,0,3876,0,0,0,347860,0,0,,,,,0,69186,0,0,0,32792,0,0 +17-43063274-A-G,17,43063274,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+59T>C,,c.5193+59T>C,intron_variant,,,,1,1265430,7.902452130896217e-7,0,0,,,5.99,,0.00,0.00,-0.0380,,,0,29400,0,0,0,44180,0,0,0,24940,0,0,0,38698,0,0,0,53018,0,0,0,5168,0,0,1,934694,0,0,,,,,0,81572,0,0,0,53760,0,0 +17-43063274-A-T,17,43063274,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+59T>A,,c.5193+59T>A,intron_variant,,,,1,1265430,7.902452130896217e-7,0,0,,,5.62,,0.00,0.00,-0.0380,,,0,29400,0,0,0,44180,0,0,0,24940,0,0,0,38698,0,0,0,53018,0,0,0,5168,0,0,1,934694,0,0,,,,,0,81572,0,0,0,53760,0,0 +17-43063275-T-C,17,43063275,rs1297237971,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+58A>G,,c.5193+58A>G,intron_variant,Likely benign,522205,,12,1425218,0.000008419764555317152,0,0,nfe,0.00000419,13.2,,0.00,0.00,-0.0230,,,0,71020,0,0,0,59444,0,0,0,28466,0,0,0,43946,0,0,1,63640,0,0,0,5506,0,0,9,1009498,0,0,0,912,0,0,1,86650,0,0,1,56136,0,0 +17-43063276-T-G,17,43063276,rs2051846359,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+57A>C,,c.5193+57A>C,intron_variant,,,,1,1279002,7.818596061616792e-7,0,0,,,7.23,,0.00,0.00,-0.960,,,0,29698,0,0,0,44238,0,0,0,25038,0,0,0,38764,0,0,0,53054,0,0,0,5222,0,0,0,946794,0,0,,,,,1,81984,0,0,0,54210,0,0 +17-43063276-T-A,17,43063276,rs2051846359,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+57A>T,,c.5193+57A>T,intron_variant,,,,3,1431120,0.000002096260271675331,0,0,sas,0.00000918,7.08,,0.00,0.00,-0.960,,,0,71120,0,0,0,59494,0,0,0,28506,0,0,0,43966,0,0,0,63656,0,0,0,5538,0,0,0,1014820,0,0,0,912,0,0,3,86804,0,0,0,56304,0,0 +17-43063282-CTA-C,17,43063282,rs1597818657,CTA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+49_5193+50del,,c.5193+49_5193+50del,intron_variant,,,,11,1302712,0.000008443923138805815,0,0,nfe,0.00000522,3.30,,0.00,0.0100,0.389,,,0,30122,0,0,0,44374,0,0,0,25208,0,0,0,38912,0,0,0,53142,0,0,0,5336,0,0,10,967878,0,0,,,,,0,82674,0,0,1,55066,0,0 +17-43063284-A-G,17,43063284,rs2153548217,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+49T>C,,c.5193+49T>C,intron_variant,,,,1,1312754,7.617573437216722e-7,0,0,,,0.429,,0.0100,0.00,-1.41,,,0,30324,0,0,0,44422,0,0,0,25284,0,0,0,38964,0,0,0,53172,0,0,0,5402,0,0,1,976850,0,0,,,,,0,82964,0,0,0,55372,0,0 +17-43063286-A-G,17,43063286,rs1450608314,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+47T>C,,c.5193+47T>C,intron_variant,,,,12,1477510,0.000008121772441472477,0,0,nfe,0.00000559,2.94,,0.00,0.00,-0.0990,,,1,72018,0,0,0,59746,0,0,0,28838,0,0,0,44228,0,0,0,63816,0,0,0,5748,0,0,11,1056256,0,0,0,912,0,0,0,88076,0,0,0,57872,0,0 +17-43063287-TG-T,17,43063287,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+45del,,c.5193+45del,intron_variant,,,,1,1329624,7.520923208365673e-7,0,0,,,7.10,,0.00,0.0100,0.907,,,0,30668,0,0,0,44472,0,0,0,25390,0,0,0,39078,0,0,0,53216,0,0,0,5458,0,0,1,992058,0,0,,,,,0,83348,0,0,0,55936,0,0 +17-43063288-G-A,17,43063288,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+45C>T,,c.5193+45C>T,intron_variant,,,,1,1334690,7.492376506904225e-7,0,0,,,9.10,,0.00,0.0100,0.539,,,0,30794,0,0,0,44478,0,0,0,25402,0,0,0,39098,0,0,0,53174,0,0,0,5480,0,0,1,996706,0,0,,,,,0,83408,0,0,0,56150,0,0 +17-43063289-ACTGAATGAATATCTCTGGT-A,17,43063289,,ACTGAATGAATATCTCTGGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+25_5193+43del,,c.5193+25_5193+43del,intron_variant,,,,1,1342698,7.447691141269295e-7,0,0,,,8.92,,0.00,0.0100,0.349,,,0,30918,0,0,0,44514,0,0,0,25468,0,0,0,39126,0,0,0,53234,0,0,0,5502,0,0,1,1003978,0,0,,,,,0,83570,0,0,0,56388,0,0 +17-43063289-A-G,17,43063289,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+44T>C,,c.5193+44T>C,intron_variant,,,,1,1342698,7.447691141269295e-7,0,0,,,13.4,,0.00,-0.0100,0.349,,,0,30918,0,0,0,44514,0,0,0,25468,0,0,0,39126,0,0,0,53234,0,0,0,5502,0,0,1,1003978,0,0,,,,,0,83570,0,0,0,56388,0,0 +17-43063290-C-T,17,43063290,rs2051846860,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+43G>A,,c.5193+43G>A,intron_variant,,,,2,876326,0.0000022822556902339998,0,0,,,9.16,,0.00,0.0100,0.392,,,0,54858,0,0,0,16118,0,0,0,8018,0,0,0,8324,0,0,0,10854,0,0,0,1754,0,0,2,730826,0,0,0,912,0,0,0,18934,0,0,0,25728,0,0 +17-43063295-T-C,17,43063295,rs375647048,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+38A>G,,c.5193+38A>G,intron_variant,Likely benign,994111,,47,1529864,0.00003072168506481622,0,0,afr,0.0004363300000000002,6.44,,0.00,0.00,-2.17,,,42,73180,0,0,1,59892,0,0,0,29108,0,0,0,44462,0,0,0,63920,0,0,0,5884,0,0,1,1103640,0,0,0,912,0,0,0,89212,0,0,3,59654,0,0 +17-43063295-T-G,17,43063295,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+38A>C,,c.5193+38A>C,intron_variant,,,,1,1377498,7.259538670836545e-7,0,0,,,6.12,,0.00,0.00,-2.17,,,0,31598,0,0,0,44588,0,0,0,25636,0,0,0,39272,0,0,0,53290,0,0,0,5590,0,0,1,1035604,0,0,,,,,0,84382,0,0,0,57538,0,0 +17-43063296-G-A,17,43063296,rs1368548128,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5193+37C>T,,c.5193+37C>T,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,6.54,,0.00,0.0100,1.94,,,1,41430,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43063298-A-G,17,43063298,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+35T>C,,c.5193+35T>C,intron_variant,,,,10,1389102,0.000007198895401489596,0,0,nfe,0.00000483,5.83,,0.00,-0.0100,1.50,,,0,31816,0,0,0,44614,0,0,0,25704,0,0,0,39322,0,0,0,53302,0,0,0,5644,0,0,10,1046178,0,0,,,,,0,84646,0,0,0,57876,0,0 +17-43063300-A-G,17,43063300,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+33T>C,,c.5193+33T>C,intron_variant,,,,2,1396010,0.0000014326544938789837,0,0,nfe,3.200000000000001e-7,1.77,,0.0100,-0.0100,0.837,,,0,31924,0,0,0,44624,0,0,0,25758,0,0,0,39360,0,0,0,53304,0,0,0,5660,0,0,2,1052514,0,0,,,,,0,84782,0,0,0,58084,0,0 +17-43063304-C-T,17,43063304,rs1239995634,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+29G>A,,c.5193+29G>A,intron_variant,not provided,865141,,1,628404,0.0000015913329641440857,0,0,,,0.835,,0.00,0.00,-0.103,,,0,17684,0,0,0,43728,0,0,0,20978,0,0,0,36050,0,0,0,53058,0,0,0,4136,0,0,1,349950,0,0,,,,,0,69770,0,0,0,33050,0,0 +17-43063305-TG-T,17,43063305,rs2153549559,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+27del,,c.5193+27del,intron_variant,,,,1,1412424,7.080026960742667e-7,0,0,,,3.43,,0.00,0.0100,0.209,,,0,32268,0,0,0,44640,0,0,0,25852,0,0,0,39466,0,0,0,53330,0,0,0,5682,0,0,1,1067368,0,0,,,,,0,85140,0,0,0,58678,0,0 +17-43063305-T-C,17,43063305,rs1440184813,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+28A>G,,c.5193+28A>G,intron_variant,not provided,865139,,1,1412428,7.080006910086745e-7,0,0,,,9.17,,0.00,0.00,0.209,,,0,32268,0,0,0,44640,0,0,0,25852,0,0,0,39466,0,0,0,53330,0,0,0,5682,0,0,1,1067372,0,0,,,,,0,85140,0,0,0,58678,0,0 +17-43063306-G-A,17,43063306,rs2051847922,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+27C>T,,c.5193+27C>T,intron_variant,,,,1,785766,0.000001272643509645365,0,0,,,5.86,,0.00,0.0100,2.79,,,0,14634,0,0,0,912,0,0,0,4882,0,0,0,3428,0,0,0,266,0,0,0,1552,0,0,0,719040,0,0,,,,,1,15388,0,0,0,25664,0,0 +17-43063307-G-C,17,43063307,rs1177812250,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+26C>G,,c.5193+26C>G,intron_variant,not provided,865135,,1,1418616,7.049123934877373e-7,0,0,,,1.66,,0.00,-0.0100,0.420,,,0,32432,0,0,1,44646,0,0,0,25876,0,0,0,39488,0,0,0,53318,0,0,0,5702,0,0,0,1072970,0,0,,,,,0,85284,0,0,0,58900,0,0 +17-43063307-G-A,17,43063307,rs1177812250,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+26C>T,,c.5193+26C>T,intron_variant,not provided,865136,,2,1570758,0.0000012732706120229852,0,0,,,1.81,,0.00,0.00,0.420,,,2,73848,0,0,0,59922,0,0,0,29346,0,0,0,44684,0,0,0,63920,0,0,0,6018,0,0,0,1141002,0,0,0,910,0,0,0,90116,0,0,0,60992,0,0 +17-43063311-G-A,17,43063311,rs8176260,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5193+22C>T,,c.5193+22C>T,intron_variant,Likely benign,188418,,81,1583436,0.00005115457776632589,0,0,afr,0.00086295,14.3,,0.00,0.00,1.69,,,78,74228,0,0,0,59964,0,0,0,29430,0,0,0,44748,0,0,0,63944,0,0,0,6012,0,0,1,1152322,0,0,0,912,0,0,0,90426,0,0,2,61450,0,0 +17-43063314-T-C,17,43063314,rs1555578276,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+19A>G,,c.5193+19A>G,intron_variant,Conflicting interpretations of pathogenicity,491099,,2,1437298,0.0000013914998838097597,0,0,afr,0.00001009,8.19,,0.00,0.00,-0.0110,,,2,32814,0,0,0,44672,0,0,0,26010,0,0,0,39584,0,0,0,53350,0,0,0,5730,0,0,0,1089882,0,0,,,,,0,85706,0,0,0,59550,0,0 +17-43063315-G-C,17,43063315,rs2051849852,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+18C>G,,c.5193+18C>G,intron_variant,Likely benign,867480,,2,1437104,0.0000013916877275409434,0,0,,,11.2,,0.0100,-0.0200,0.322,,,0,32828,0,0,0,44680,0,0,0,26014,0,0,0,39576,0,0,0,53322,0,0,0,5728,0,0,0,1089674,0,0,,,,,0,85724,0,0,2,59558,0,0 +17-43063315-G-GT,17,43063315,rs2051850260,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5193+17dup,,c.5193+17dup,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,14.2,,0.00,0.0100,0.322,,,0,41428,0,0,0,15278,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,1,4830,0,0,0,2090,0,0 +17-43063320-A-G,17,43063320,rs273901750,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+13T>C,,c.5193+13T>C,intron_variant,Likely benign,868138,,1,818024,0.000001222458020791566,0,0,,,16.5,,0.00,0.00,2.79,,,0,15370,0,0,0,964,0,0,0,5072,0,0,0,3566,0,0,0,276,0,0,0,1598,0,0,1,748208,0,0,,,,,0,16126,0,0,0,26844,0,0 +17-43063321-TC-T,17,43063321,rs753793287,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11del,,c.5193+11del,intron_variant,,,,1,1447764,6.907203107688822e-7,0,0,,,11.3,,0.00,0.0100,-0.181,,,0,33088,0,0,1,44700,0,0,0,26060,0,0,0,39628,0,0,0,53348,0,0,0,5752,0,0,0,1099314,0,0,,,,,0,85926,0,0,0,59948,0,0 +17-43063321-T-A,17,43063321,rs2051851343,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+12A>T,,c.5193+12A>T,intron_variant,not provided,868137,,1,1447764,6.907203107688822e-7,0,0,,,13.8,,0.00,0.00,-0.181,,,0,33088,0,0,0,44700,0,0,0,26060,0,0,0,39628,0,0,0,53348,0,0,0,5752,0,0,1,1099314,0,0,,,,,0,85926,0,0,0,59948,0,0 +17-43063322-C-T,17,43063322,rs1567768534,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11G>A,,c.5193+11G>A,intron_variant,Likely benign,867799,,1,1448484,6.903769734425786e-7,0,0,,,14.0,,0.00,0.00,0.658,,,0,33110,0,0,0,44698,0,0,0,26060,0,0,0,39630,0,0,0,53350,0,0,0,5752,0,0,1,1099980,0,0,,,,,0,85940,0,0,0,59964,0,0 +17-43063322-C-A,17,43063322,rs1567768534,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+11G>T,,c.5193+11G>T,intron_variant,Conflicting interpretations of pathogenicity,628401,,1,1448484,6.903769734425786e-7,0,0,,,13.4,,0.00,0.00,0.658,,,0,33110,0,0,0,44698,0,0,0,26060,0,0,0,39630,0,0,0,53350,0,0,0,5752,0,0,1,1099980,0,0,,,,,0,85940,0,0,0,59964,0,0 +17-43063327-A-G,17,43063327,rs1555578283,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+6T>C,,c.5193+6T>C,intron_variant,Uncertain significance,462664,,1,823384,0.000001214500160314021,0,0,,,17.4,,0.0100,-0.0700,4.65,,,0,15504,0,0,0,970,0,0,0,5096,0,0,0,3588,0,0,0,274,0,0,0,1614,0,0,1,753102,0,0,,,,,0,16238,0,0,0,26998,0,0 +17-43063330-TA-T,17,43063330,rs273901751,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+2del,,c.5193+2del,splice_donor_variant,Pathogenic,55450,,3,1453728,0.0000020636597767945584,0,0,nfe,2.999999999999999e-7,32.0,,0.980,-0.860,1.44,,,0,33262,0,0,0,44710,0,0,0,26084,0,0,0,39656,0,0,0,53348,0,0,0,5760,0,0,2,1104692,0,0,,,,,0,86068,0,0,1,60148,0,0 +17-43063330-T-C,17,43063330,rs1060502326,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+3A>G,,c.5193+3A>G,intron_variant,Conflicting interpretations of pathogenicity,409301,,7,1453732,0.0000048151928966274385,0,0,afr,0.00000996,14.7,,0.00,-0.0200,1.44,,,2,33262,0,0,0,44710,0,0,0,26084,0,0,0,39656,0,0,0,53348,0,0,0,5760,0,0,5,1104696,0,0,,,,,0,86068,0,0,0,60148,0,0 +17-43063331-A-T,17,43063331,rs886040915,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5193+2T>A,,c.5193+2T>A,splice_donor_variant,not provided,868127,,1,1454500,6.875214850464077e-7,0,0,,,33.0,,0.980,-0.840,6.33,,,1,33284,0,0,0,44710,0,0,0,26090,0,0,0,39652,0,0,0,53342,0,0,0,5764,0,0,0,1105400,0,0,,,,,0,86086,0,0,0,60172,0,0 +17-43063333-C-T,17,43063333,rs876660702,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1731Glu,p.Glu1731Glu,c.5193G>A,splice_region_variant,Likely benign,233877,,1,1455884,6.868679098060011e-7,0,0,,,22.3,,0.0200,-0.0900,7.14,,,0,33342,0,0,0,44712,0,0,0,26104,0,0,0,39666,0,0,0,53336,0,0,0,5762,0,0,1,1106638,0,0,,,,,0,86136,0,0,0,60188,0,0 +17-43063335-C-T,17,43063335,rs397507244,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1731Lys,p.Glu1731Lys,c.5191G>A,missense_variant,Conflicting interpretations of pathogenicity,91641,,1,628620,0.0000015907861665234959,0,0,,,32.0,0.586,0.0100,-0.0100,8.90,0.0100,0.145,0,17692,0,0,0,43740,0,0,0,20982,0,0,1,36056,0,0,0,53052,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43063337-T-C,17,43063337,rs80357171,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1730Ser,p.Asn1730Ser,c.5189A>G,missense_variant,Conflicting interpretations of pathogenicity,55447,,18,1609448,0.000011183958723736336,0,0,afr,0.00009223999999999998,20.9,0.344,0.00,-0.0200,2.36,0.150,0.00600,12,74836,0,0,0,59994,0,0,0,29580,0,0,0,44874,0,0,0,63956,0,0,0,6078,0,0,6,1175880,0,0,0,912,0,0,0,91006,0,0,0,62332,0,0 +17-43063340-A-T,17,43063340,rs730881496,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1729Gln,p.Leu1729Gln,c.5186T>A,missense_variant,Uncertain significance,182166,,3,1610158,0.0000018631711918954538,1,0,,,28.9,0.825,0.00,-0.0100,6.33,0.00,0.467,0,74990,0,0,0,60010,0,0,0,29580,0,0,0,44864,0,0,0,63958,0,0,2,6058,1,0,1,1176404,0,0,0,912,0,0,0,91004,0,0,0,62378,0,0 +17-43063340-A-C,17,43063340,rs730881496,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1729Arg,p.Leu1729Arg,c.5186T>G,missense_variant,not provided,868121,,2,1457798,0.0000013719321881358048,0,0,afr,0.00000992,28.5,0.820,0.00,0.00,6.33,0.00,0.0220,2,33394,0,0,0,44712,0,0,0,26108,0,0,0,39670,0,0,0,53334,0,0,0,5764,0,0,0,1108378,0,0,,,,,0,86172,0,0,0,60266,0,0 +17-43063341-G-C,17,43063341,rs1207677103,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1729Val,p.Leu1729Val,c.5185C>G,missense_variant,not provided,868120,,2,1457686,0.0000013720375993183718,0,0,afr,0.00000992,26.2,0.603,0.00,-0.0200,5.87,0.00,0.0830,2,33390,0,0,0,44714,0,0,0,26110,0,0,0,39674,0,0,0,53290,0,0,0,5764,0,0,0,1108308,0,0,,,,,0,86168,0,0,0,60268,0,0 +17-43063343-A-G,17,43063343,rs2051858178,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1728Thr,p.Met1728Thr,c.5183T>C,missense_variant,Uncertain significance,867779,,1,152176,0.00000657133845021554,0,0,,,22.8,0.513,0.00,0.00,4.68,,,0,41438,0,0,1,15264,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2086,0,0 +17-43063344-T-C,17,43063344,rs2051858497,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1728Val,p.Met1728Val,c.5182A>G,missense_variant,not provided,867776,,1,628588,0.000001590867149866049,0,0,,,13.6,0.480,0.00,0.00,-0.00100,0.420,0.00,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53012,0,0,0,4148,0,0,0,350072,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43063345-TTTTC-T,17,43063345,rs80357867,TTTTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1726LysfsTer3,p.Arg1726LysfsTer3,c.5177_5180del,frameshift_variant,Pathogenic,37644,lof_flag,4,780762,0.000005123200155745285,0,0,afr,0.00001346,35.0,,0.0100,-0.0400,1.67,,,3,59138,0,0,0,58998,0,0,0,24454,0,0,0,41258,0,0,0,63630,0,0,0,4464,0,0,1,418102,0,0,0,912,0,0,0,74624,0,0,0,35182,0,0 +17-43063347-T-A,17,43063347,rs80357347,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1727Ter,p.Lys1727Ter,c.5179A>T,stop_gained,Pathogenic,37645,lof_flag,1,1458840,6.854761317210935e-7,0,0,,,48.0,,0.0100,-0.150,6.36,,,0,33410,0,0,0,44714,0,0,0,26114,0,0,0,39680,0,0,0,53306,0,0,0,5762,0,0,1,1109350,0,0,,,,,0,86202,0,0,0,60302,0,0 +17-43063349-C-A,17,43063349,rs786203547,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1726Ile,p.Arg1726Ile,c.5177G>T,missense_variant,Conflicting interpretations of pathogenicity,187201,,11,1458812,0.000007540382173988149,0,0,nfe,0.00000532,25.8,0.521,0.0200,-0.0500,0.794,0.0200,0.0210,0,33404,0,0,0,44714,0,0,0,26118,0,0,0,39676,0,0,0,53272,0,0,0,5762,0,0,11,1109370,0,0,,,,,0,86198,0,0,0,60298,0,0 +17-43063350-T-C,17,43063350,rs80357501,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1726Gly,p.Arg1726Gly,c.5176A>G,missense_variant,Conflicting interpretations of pathogenicity,55443,,32,1458894,0.000021934424296761795,0,0,nfe,0.0000175,16.8,0.484,0.00,0.00,0.0300,0.330,0.00,1,33410,0,0,2,44714,0,0,0,26118,0,0,0,39678,0,0,0,53308,0,0,0,5762,0,0,28,1109400,0,0,,,,,0,86196,0,0,1,60308,0,0 +17-43063351-T-C,17,43063351,rs191373374,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1725Glu,p.Glu1725Glu,c.5175A>G,synonymous_variant,Likely benign,136552,,70,1611322,0.00004344258937692156,0,0,amr,0.00016623999999999998,9.97,,0.00,0.00,1.40,,,1,75000,0,0,16,60014,0,0,0,29588,0,0,0,44874,0,0,0,63934,0,0,2,6056,0,0,39,1177484,0,0,0,912,0,0,0,91030,0,0,12,62430,0,0 +17-43063354-T-G,17,43063354,rs879254150,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1724Asn,p.Lys1724Asn,c.5172A>C,missense_variant,Uncertain significance,246200,,1,628580,0.000001590887396990041,0,0,,,25.0,0.627,0.00,0.00,0.818,0.00,0.205,0,17692,0,0,1,43740,0,0,0,20982,0,0,0,36056,0,0,0,52988,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43063357-A-G,17,43063357,rs2051864221,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Ile,p.Ile1723Ile,c.5169T>C,synonymous_variant,not provided,867431,,1,628570,0.0000015909127066197878,0,0,,,9.27,,0.0100,0.00,0.394,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,52980,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43063358-A-C,17,43063358,rs1064793533,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Ser,p.Ile1723Ser,c.5168T>G,missense_variant,not provided,867429,,1,830728,0.0000012037634460376923,0,0,,,32.0,0.656,0.0100,-0.0200,3.71,0.00,0.347,0,15732,0,0,0,976,0,0,0,5140,0,0,0,3626,0,0,0,276,0,0,0,1614,0,0,1,759726,0,0,,,,,0,16406,0,0,0,27232,0,0 +17-43063359-T-C,17,43063359,rs1426821558,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1723Val,p.Ile1723Val,c.5167A>G,missense_variant,Conflicting interpretations of pathogenicity,462662,,1,628554,0.0000015909532037024663,0,0,,,20.9,0.420,0.00,0.00,0.0210,0.0600,0.106,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,52966,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69796,0,0,0,33092,0,0 +17-43063361-G-A,17,43063361,rs80357104,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1722Phe,p.Ser1722Phe,c.5165C>T,missense_variant,Pathogenic/Likely pathogenic,55441,,1,1459212,6.853013818417063e-7,0,0,,,30.0,0.756,0.00,-0.0200,4.96,0.00,0.873,0,33418,0,0,1,44712,0,0,0,26122,0,0,0,39684,0,0,0,53198,0,0,0,5760,0,0,0,1109798,0,0,,,,,0,86202,0,0,0,60318,0,0 +17-43063363-C-T,17,43063363,rs1403122031,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1721Gln,p.Gln1721Gln,c.5163G>A,synonymous_variant,Likely benign,482939,,16,1459426,0.000010963214304802025,0,0,nfe,0.00000853,10.7,,0.0100,-0.0300,1.69,,,0,33426,0,0,0,44712,0,0,0,26126,0,0,0,39684,0,0,0,53200,0,0,0,5762,0,0,16,1109990,0,0,,,,,0,86200,0,0,0,60326,0,0 +17-43063366-G-C,17,43063366,rs376736915,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1720Thr,p.Thr1720Thr,c.5160C>G,synonymous_variant,Likely benign,427321,,1,152016,0.00000657825492053468,0,0,,,6.68,,0.0100,0.0100,0.716,,,0,41358,0,0,0,15252,0,0,0,3470,0,0,0,5192,0,0,0,10588,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 +17-43063366-G-A,17,43063366,rs376736915,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1720Thr,p.Thr1720Thr,c.5160C>T,synonymous_variant,Likely benign,1745727,,1,1459194,6.853098354296961e-7,0,0,,,11.3,,0.0100,-0.0300,0.716,,,0,33422,0,0,0,44710,0,0,0,26122,0,0,1,39678,0,0,0,53178,0,0,0,5762,0,0,0,1109814,0,0,,,,,0,86196,0,0,0,60312,0,0 +17-43063368-T-C,17,43063368,rs56195342,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1720Ala,p.Thr1720Ala,c.5158A>G,missense_variant,Benign,55438,,203,1611752,0.0001259498979991959,0,0,amr,0.0006634700000000002,23.7,0.445,0.0100,-0.0100,2.99,0.0300,0.0520,1,74974,0,0,51,60008,0,0,0,29600,0,0,0,44876,0,0,0,63804,0,0,0,6056,0,0,143,1178052,0,0,0,912,0,0,0,91026,0,0,8,62444,0,0 +17-43063369-C-A,17,43063369,rs28897697,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1719Val,p.Val1719Val,c.5157G>T,synonymous_variant,Likely benign,184120,,89,1611588,0.00005522503270066543,0,0,nfe,0.00005803,12.4,,0.0100,-0.0400,0.398,,,2,74982,0,0,0,59996,0,0,0,29600,0,0,0,44876,0,0,0,63756,0,0,0,6054,0,0,83,1177960,0,0,0,912,0,0,0,91016,0,0,4,62436,0,0 +17-43063369-C-T,17,43063369,rs28897697,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Val,p.Val1719Val,c.5157G>A,synonymous_variant,Likely benign,136089,,13,1459316,0.00000890828305863843,0,0,nfe,0.00000654,13.7,,0.0100,-0.0400,0.398,,,0,33424,0,0,0,44710,0,0,0,26128,0,0,0,39684,0,0,0,53146,0,0,0,5760,0,0,13,1109952,0,0,,,,,0,86190,0,0,0,60322,0,0 +17-43063370-A-T,17,43063370,rs1247437511,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Glu,p.Val1719Glu,c.5156T>A,missense_variant,not provided,867427,,1,830818,0.000001203633045986004,0,0,,,28.1,0.857,0.00,-0.0100,6.33,0.00,0.0170,0,15740,0,0,0,974,0,0,0,5142,0,0,0,3626,0,0,0,276,0,0,0,1614,0,0,1,759816,0,0,,,,,0,16402,0,0,0,27228,0,0 +17-43063371-C-G,17,43063371,rs749465132,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Leu,p.Val1719Leu,c.5155G>C,missense_variant,not provided,867426,,1,1459156,6.853276825781479e-7,0,0,,,23.0,0.465,0.00,0.00,7.13,0.00,0.00500,0,33430,0,0,0,44714,0,0,0,26122,0,0,0,39680,0,0,0,53130,0,0,0,5762,0,0,1,1109812,0,0,,,,,0,86192,0,0,0,60314,0,0 +17-43063371-C-A,17,43063371,rs749465132,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1719Leu,p.Val1719Leu,c.5155G>T,missense_variant,Conflicting interpretations of pathogenicity,245993,,1,1459156,6.853276825781479e-7,0,0,,,23.0,0.465,0.00,0.00,7.13,0.00,0.00500,0,33430,0,0,1,44714,0,0,0,26122,0,0,0,39680,0,0,0,53130,0,0,0,5762,0,0,0,1109812,0,0,,,,,0,86192,0,0,0,60314,0,0 +17-43063373-C-T,17,43063373,rs41293461,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1718Ter,p.Trp1718Ter,c.5153G>A,stop_gained,Pathogenic,55432,lof_flag,6,830644,0.000007223311069483437,0,0,nfe,0.00000284,49.0,,0.0600,-0.0700,8.90,,,0,15726,0,0,0,972,0,0,0,5144,0,0,0,3622,0,0,0,276,0,0,0,1614,0,0,6,759672,0,0,,,,,0,16392,0,0,0,27226,0,0 +17-43063374-CT-C,17,43063374,rs273901746,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-2del,,c.5153-2del,splice_acceptor_variant,Pathogenic,55431,,1,830516,0.0000012040707222979448,0,0,,,32.0,,0.990,-0.860,8.90,,,0,15724,0,0,0,976,0,0,0,5146,0,0,0,3624,0,0,0,276,0,0,0,1614,0,0,1,759542,0,0,,,,,0,16384,0,0,0,27230,0,0 +17-43063375-T-C,17,43063375,rs786202545,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-2A>G,,c.5153-2A>G,splice_acceptor_variant,Pathogenic/Likely pathogenic,185900,,1,1458770,6.855090247263105e-7,0,0,,,34.0,,0.990,-0.860,6.36,,,0,33420,0,0,0,44714,0,0,0,26124,0,0,0,39680,0,0,0,53098,0,0,0,5762,0,0,0,1109486,0,0,,,,,1,86180,0,0,0,60306,0,0 +17-43063376-A-G,17,43063376,rs375639469,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-3T>C,,c.5153-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,91639,,5,1610902,0.0000031038511343334354,0,0,nfe,8e-7,9.72,,0.0100,0.0300,0.606,,,1,74870,0,0,0,59992,0,0,0,29594,0,0,0,44878,0,0,0,63696,0,0,0,6078,0,0,4,1177480,0,0,0,912,0,0,0,91012,0,0,0,62390,0,0 +17-43063378-A-G,17,43063378,rs1218652386,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-5T>C,,c.5153-5T>C,splice_region_variant,Likely benign,517713,,1,628294,0.000001591611570379472,0,0,,,12.7,,0.00,-0.0400,2.95,,,1,17690,0,0,0,43738,0,0,0,20982,0,0,0,36050,0,0,0,52740,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69792,0,0,0,33090,0,0 +17-43063379-G-T,17,43063379,rs80358129,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-6C>A,,c.5153-6C>A,splice_region_variant,Benign,96941,,44,1610314,0.000027323863544625458,0,0,nfe,0.000024,14.9,,0.0200,-0.0500,1.99,,,0,74822,0,0,0,59974,0,0,0,29596,0,0,0,44878,0,0,3,63556,0,0,0,6078,0,0,38,1177124,0,0,0,912,0,0,0,90996,0,0,3,62378,0,0 +17-43063379-G-A,17,43063379,rs80358129,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-6C>T,,c.5153-6C>T,splice_region_variant,Likely benign,265051,,8,1610316,0.0000049679690197451926,0,0,nfe,0.00000292,12.6,,0.0100,0.00,1.99,,,0,74822,0,0,0,59974,0,0,0,29596,0,0,0,44878,0,0,0,63556,0,0,0,6078,0,0,8,1177126,0,0,0,912,0,0,0,90996,0,0,0,62378,0,0 +17-43063381-G-T,17,43063381,rs1060504570,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-8C>A,,c.5153-8C>A,splice_region_variant,Conflicting interpretations of pathogenicity,415573,,2,1457828,0.000001371903955747866,0,0,,,16.6,,0.0200,-0.0700,1.34,,,0,33382,0,0,0,44710,0,0,0,26124,0,0,0,39674,0,0,0,52952,0,0,0,5762,0,0,1,1108780,0,0,,,,,0,86166,0,0,1,60278,0,0 +17-43063382-A-C,17,43063382,rs2051874564,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-9T>G,,c.5153-9T>G,intron_variant,not provided,867420,,2,1609780,0.0000012424057945806258,0,0,,,32.0,,0.600,-0.510,4.70,,,0,74818,0,0,0,59982,0,0,0,29592,0,0,0,44876,0,0,0,63568,0,0,0,6078,0,0,2,1176614,0,0,0,912,0,0,0,90988,0,0,0,62352,0,0 +17-43063382-A-AAAAGG,17,43063382,rs2051874779,A,AAAAGG,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-10_5153-9insCCTTT,,c.5153-10_5153-9insCCTTT,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,18.3,,0.0100,0.0100,4.70,,,1,41434,0,0,0,15270,0,0,0,3470,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43063382-A-G,17,43063382,rs2051874564,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-9T>C,,c.5153-9T>C,intron_variant,Likely benign,865062,,1,1457608,6.860555101234351e-7,0,0,,,21.7,,0.0200,-0.0800,4.70,,,0,33384,0,0,0,44712,0,0,0,26122,0,0,0,39674,0,0,0,52954,0,0,1,5762,0,0,0,1108576,0,0,,,,,0,86160,0,0,0,60264,0,0 +17-43063383-T-TTA,17,43063383,rs2051875170,T,TTA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-11_5153-10insTA,,c.5153-11_5153-10insTA,intron_variant,,,,1,152110,0.00000657418973111564,0,0,,,8.67,,0.0100,-0.0200,-1.22,,,1,41428,0,0,0,15248,0,0,0,3472,0,0,0,5202,0,0,0,10598,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43063385-A-G,17,43063385,rs1567768851,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-12T>C,,c.5153-12T>C,intron_variant,not provided,868751,,2,1456984,0.0000013726986706786073,0,0,nfe,2.999999999999999e-7,19.8,,0.0100,-0.0300,2.91,,,0,33372,0,0,0,44712,0,0,0,26118,0,0,0,39664,0,0,0,52920,0,0,0,5764,0,0,2,1108030,0,0,,,,,0,86154,0,0,0,60250,0,0 +17-43063386-T-C,17,43063386,rs45471406,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-13A>G,,c.5153-13A>G,intron_variant,Benign,125783,,47,1608488,0.000029219987963851766,0,0,nfe,0.00002837,14.2,,0.00,0.00,-0.00500,,,1,74810,0,0,0,59968,0,0,0,29582,0,0,0,44866,0,0,0,63512,0,0,0,6080,0,0,44,1175456,0,0,0,910,0,0,1,90966,0,0,1,62338,0,0 +17-43063386-T-TACAGC,17,43063386,rs2051876061,T,TACAGC,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-14_5153-13insGCTGT,,c.5153-14_5153-13insGCTGT,intron_variant,Likely benign,1975637,,1,152166,0.000006571770303484353,0,0,,,16.4,,0.0500,-0.0900,-0.00500,,,1,41448,0,0,0,15264,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4822,0,0,0,2090,0,0 +17-43063395-C-CT,17,43063395,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-23_5153-22insA,,c.5153-23_5153-22insA,intron_variant,,,,1,1449402,6.899397130678721e-7,0,0,,,7.99,,0.0100,-0.0300,-0.868,,,0,33204,0,0,0,44702,0,0,0,26068,0,0,0,39630,0,0,0,52658,0,0,0,5750,0,0,1,1101384,0,0,,,,,0,86024,0,0,0,59982,0,0 +17-43063397-G-C,17,43063397,rs1313068638,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-24C>G,,c.5153-24C>G,intron_variant,not provided,868733,,2,1446014,0.0000013831124733232182,0,0,,,0.720,,0.00,0.00,0.167,,,0,33134,0,0,0,44690,0,0,0,26056,0,0,1,39608,0,0,0,52568,0,0,0,5740,0,0,1,1098408,0,0,,,,,0,85918,0,0,0,59892,0,0 +17-43063398-G-T,17,43063398,rs1458162596,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-25C>A,,c.5153-25C>A,intron_variant,not provided,867721,,3,1441868,0.0000020806342882982355,0,0,nfe,2.999999999999999e-7,15.3,,0.0100,-0.0600,2.91,,,0,33048,0,0,0,44692,0,0,0,26030,0,0,0,39594,0,0,0,52500,0,0,0,5734,0,0,2,1094660,0,0,,,,,1,85848,0,0,0,59762,0,0 +17-43063399-T-C,17,43063399,rs80358109,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-26A>G,,c.5153-26A>G,intron_variant,Conflicting interpretations of pathogenicity,125786,,8,814292,0.000009824485565374583,0,0,nfe,0.0000029,21.9,,0.230,-0.410,3.74,,,0,15364,0,0,0,960,0,0,0,5048,0,0,0,3550,0,0,0,268,0,0,1,1584,0,0,6,744752,0,0,,,,,0,16060,0,0,1,26706,0,0 +17-43063402-C-T,17,43063402,rs2051879159,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-29G>A,,c.5153-29G>A,intron_variant,not provided,867406,,1,1435416,6.966621522959198e-7,0,0,,,7.81,,0.00,-0.0100,1.00,,,0,32912,0,0,0,44680,0,0,0,26016,0,0,0,39554,0,0,0,52386,0,0,0,5720,0,0,1,1088856,0,0,,,,,0,85750,0,0,0,59542,0,0 +17-43063404-T-A,17,43063404,rs370536578,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-31A>T,,c.5153-31A>T,intron_variant,Likely benign,803406,,15,1583224,0.000009474338438527965,0,0,eas,0.00020637999999999999,0.0330,,0.00,0.00,-4.59,,,0,74256,0,0,0,59944,0,0,0,29444,0,0,15,44748,0,0,0,62924,0,0,0,6030,0,0,0,1153014,0,0,0,910,0,0,0,90470,0,0,0,61484,0,0 +17-43063404-T-C,17,43063404,rs370536578,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-31A>G,,c.5153-31A>G,intron_variant,Likely benign,433725,,46,1583340,0.00002905250925259262,0,0,nfe,0.00002727,0.0430,,0.00,0.00,-4.59,,,1,74378,0,0,1,59964,0,0,0,29444,0,0,0,44736,0,0,0,62924,0,0,0,6008,0,0,42,1153004,0,0,0,910,0,0,0,90466,0,0,2,61506,0,0 +17-43063405-A-G,17,43063405,rs1222083835,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-32T>C,,c.5153-32T>C,intron_variant,Likely benign,2576271,,3,1577344,0.0000019019313478860666,0,0,nfe,6.999999999999999e-7,6.18,,0.00,-0.0200,-0.279,,,0,74144,0,0,0,59934,0,0,0,29408,0,0,0,44704,0,0,0,62836,0,0,0,6014,0,0,3,1147738,0,0,0,912,0,0,0,90362,0,0,0,61292,0,0 +17-43063405-ACAG-A,17,43063405,rs1345202803,ACAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-35_5153-33del,,c.5153-35_5153-33del,intron_variant,,,,1,152220,0.000006569438969911969,0,0,,,10.9,,0.0100,-0.0300,-0.279,,,1,41464,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4830,0,0,0,2084,0,0 +17-43063406-C-G,17,43063406,rs773082120,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-33G>C,,c.5153-33G>C,intron_variant,,,,2,1425310,0.0000014032035136215982,0,0,,,4.11,,0.00,-0.0200,-0.339,,,0,32686,0,0,0,44662,0,0,0,25936,0,0,0,39508,0,0,0,52176,0,0,0,5698,0,0,1,1079866,0,0,,,,,0,85536,0,0,1,59242,0,0 +17-43063408-G-A,17,43063408,rs1425411094,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-35C>T,,c.5153-35C>T,intron_variant,Likely benign,1275828,,1,1403062,7.127268787836888e-7,0,0,,,13.1,,0.00,0.00,3.31,,,0,32238,0,0,1,44644,0,0,0,25828,0,0,0,39414,0,0,0,51924,0,0,0,5664,0,0,0,1059872,0,0,,,,,0,85046,0,0,0,58432,0,0 +17-43063409-CAGA-C,17,43063409,,CAGA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-39_5153-37del,,c.5153-39_5153-37del,intron_variant,,,,1,1404706,7.118927376974257e-7,0,0,,,12.5,,0.0100,-0.0300,0.495,,,0,32274,0,0,0,44634,0,0,0,25840,0,0,0,39416,0,0,0,51952,0,0,0,5666,0,0,0,1061336,0,0,,,,,1,85082,0,0,0,58506,0,0 +17-43063409-C-T,17,43063409,rs2153570228,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-36G>A,,c.5153-36G>A,intron_variant,,,,1,1404706,7.118927376974257e-7,0,0,,,13.8,,0.00,0.00,0.495,,,0,32274,0,0,0,44634,0,0,0,25840,0,0,0,39416,0,0,0,51952,0,0,0,5666,0,0,1,1061336,0,0,,,,,0,85082,0,0,0,58506,0,0 +17-43063411-G-A,17,43063411,rs2153570299,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-38C>T,,c.5153-38C>T,intron_variant,,,,1,1398228,7.151909416776091e-7,0,0,,,8.27,,0.00,0.00,0.213,,,0,32156,0,0,0,44626,0,0,0,25796,0,0,0,39382,0,0,0,51816,0,0,0,5660,0,0,1,1055550,0,0,,,,,0,84962,0,0,0,58280,0,0 +17-43063413-A-G,17,43063413,rs760559327,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-40T>C,,c.5153-40T>C,intron_variant,,,,8,1544984,0.00000517804715129736,0,0,nfe,0.0000026000000000000005,11.6,,0.00,-0.0100,1.26,,,1,73514,0,0,0,59900,0,0,0,29252,0,0,0,44566,0,0,0,62406,0,0,0,5960,0,0,7,1118676,0,0,0,912,0,0,0,89612,0,0,0,60186,0,0 +17-43063414-G-C,17,43063414,rs2153570407,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-41C>G,,c.5153-41C>G,intron_variant,,,,1,1389134,7.198729568205803e-7,0,0,,,6.03,,0.00,0.00,-0.0890,,,0,31970,0,0,0,44612,0,0,0,25758,0,0,0,39346,0,0,0,51684,0,0,0,5644,0,0,1,1047434,0,0,,,,,0,84700,0,0,0,57986,0,0 +17-43063414-G-A,17,43063414,rs2153570407,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-41C>T,,c.5153-41C>T,intron_variant,,,,1,1389134,7.198729568205803e-7,0,0,,,6.13,,0.00,0.00,-0.0890,,,0,31970,0,0,0,44612,0,0,0,25758,0,0,0,39346,0,0,0,51684,0,0,0,5644,0,0,1,1047434,0,0,,,,,0,84700,0,0,0,57986,0,0 +17-43063415-A-G,17,43063415,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-42T>C,,c.5153-42T>C,intron_variant,,,,1,1388016,7.204527901695658e-7,0,0,,,4.97,,0.00,-0.0100,-0.0400,,,0,31904,0,0,0,44618,0,0,0,25746,0,0,0,39346,0,0,0,51676,0,0,0,5636,0,0,1,1046500,0,0,,,,,0,84674,0,0,0,57916,0,0 +17-43063417-C-T,17,43063417,rs765846390,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-44G>A,,c.5153-44G>A,intron_variant,,,,5,1382040,0.000003617840294058059,0,0,eas,0.00002023,0.145,,0.00,0.00,-2.53,,,1,31778,0,0,0,44588,0,0,0,25714,0,0,3,39314,0,0,0,51476,0,0,0,5630,0,0,0,1041266,0,0,,,,,0,84564,0,0,1,57710,0,0 +17-43063418-G-A,17,43063418,rs776018348,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-45C>T,,c.5153-45C>T,intron_variant,,,,3,1377202,0.0000021783296858412926,0,0,nfe,3.200000000000001e-7,0.492,,0.00,0.00,-0.307,,,0,31650,0,0,0,44586,0,0,0,25698,0,0,0,39282,0,0,0,51368,0,0,1,5612,0,0,2,1036968,0,0,,,,,0,84460,0,0,0,57578,0,0 +17-43063421-C-G,17,43063421,rs2153570843,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-48G>C,,c.5153-48G>C,intron_variant,,,,1,1354636,7.382056877271828e-7,0,0,,,2.13,,0.00,0.0100,-0.218,,,0,31222,0,0,0,44518,0,0,0,25550,0,0,0,39126,0,0,0,51066,0,0,0,5584,0,0,1,1016804,0,0,,,,,0,83950,0,0,0,56816,0,0 +17-43063422-T-C,17,43063422,rs1011741395,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-49A>G,,c.5153-49A>G,intron_variant,,,,1,1342476,7.448922736793804e-7,0,0,,,8.58,,0.00,0.00,0.562,,,0,30990,0,0,0,44500,0,0,0,25464,0,0,0,39080,0,0,0,51072,0,0,0,5572,0,0,0,1005706,0,0,,,,,0,83716,0,0,1,56376,0,0 +17-43063423-C-T,17,43063423,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-50G>A,,c.5153-50G>A,intron_variant,,,,1,624806,0.0000016004967942049212,0,0,,,6.29,,0.00,0.00,0.0780,,,0,17610,0,0,0,43662,0,0,0,20966,0,0,0,35974,0,0,0,50720,0,0,0,4146,0,0,1,349170,0,0,,,,,0,69572,0,0,0,32986,0,0 +17-43063428-C-G,17,43063428,rs1466090947,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-55G>C,,c.5153-55G>C,intron_variant,,,,2,1456564,0.0000013730944881241057,0,0,,,1.58,,0.00,-0.0100,0.0200,,,1,71630,0,0,0,59628,0,0,0,28678,0,0,0,43996,0,0,0,61066,0,0,0,5822,0,0,1,1039914,0,0,0,912,0,0,0,87648,0,0,0,57270,0,0 +17-43063430-C-T,17,43063430,rs1216136190,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-57G>A,,c.5153-57G>A,intron_variant,,,,10,1440260,0.0000069431908127699165,0,0,nfe,0.00000413,0.382,,0.00,0.00,-0.669,,,0,71268,0,0,0,59564,0,0,0,28574,0,0,1,43886,0,0,0,60792,0,0,0,5774,0,0,9,1025502,0,0,0,912,0,0,0,87232,0,0,0,56756,0,0 +17-43063430-C-G,17,43063430,rs1216136190,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-57G>C,,c.5153-57G>C,intron_variant,,,,13,1440260,0.00000902614805660089,0,0,amr,0.00010272999999999999,0.310,,0.00,0.00,-0.669,,,0,71268,0,0,11,59564,0,0,0,28574,0,0,0,43886,0,0,0,60792,0,0,0,5774,0,0,0,1025502,0,0,0,912,0,0,0,87232,0,0,2,56756,0,0 +17-43063431-G-T,17,43063431,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-58C>A,,c.5153-58C>A,intron_variant,,,,1,1276846,7.831798039857587e-7,0,0,,,5.28,,0.00,0.00,0.545,,,1,29666,0,0,0,44250,0,0,0,25018,0,0,0,38626,0,0,0,50096,0,0,0,5440,0,0,0,947256,0,0,,,,,0,82166,0,0,0,54328,0,0 +17-43063431-G-A,17,43063431,rs988193234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-58C>T,,c.5153-58C>T,intron_variant,,,,98,1429006,0.0000685791382261516,0,0,amr,0.0011828599999999996,5.82,,0.00,0.00,0.545,,,0,71092,0,0,85,59514,0,0,0,28488,0,0,2,43826,0,0,0,60714,0,0,0,5756,0,0,7,1015300,0,0,0,912,0,0,2,86986,0,0,2,56418,0,0 +17-43063432-GAGAT-G,17,43063432,,GAGAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-63_5153-60del,,c.5153-63_5153-60del,intron_variant,,,,2,1252058,0.000001597370089884015,0,0,nfe,3.5999999999999994e-7,2.58,,0.00,0.0100,0.559,,,0,29206,0,0,0,44216,0,0,0,24868,0,0,0,38508,0,0,0,49870,0,0,0,5392,0,0,2,924876,0,0,,,,,0,81672,0,0,0,53450,0,0 +17-43063433-A-C,17,43063433,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-60T>G,,c.5153-60T>G,intron_variant,,,,1,1254558,7.970934783405789e-7,0,0,,,6.63,,0.00,0.0100,2.05,,,0,29250,0,0,0,44210,0,0,0,24866,0,0,0,38550,0,0,0,49930,0,0,0,5398,0,0,0,927156,0,0,,,,,1,81662,0,0,0,53536,0,0 +17-43063434-G-T,17,43063434,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-61C>A,,c.5153-61C>A,intron_variant,,,,1,1235734,8.092356445642832e-7,0,0,,,0.790,,0.00,0.00,1.22,,,0,28870,0,0,0,44144,0,0,0,24736,0,0,0,38446,0,0,0,49746,0,0,0,5350,0,0,1,910274,0,0,,,,,0,81266,0,0,0,52902,0,0 +17-43063435-A-G,17,43063435,rs2153571539,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-62T>C,,c.5153-62T>C,intron_variant,,,,5,1388176,0.000003601848756929957,0,0,nfe,0.0000014999999999999998,0.225,,0.00,0.0100,-0.601,,,0,70418,0,0,0,59448,0,0,0,28224,0,0,0,43622,0,0,0,60362,0,0,0,5646,0,0,5,978478,0,0,0,912,0,0,0,86060,0,0,0,55006,0,0 +17-43063436-TAG-T,17,43063436,,TAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-65_5153-64del,,c.5153-65_5153-64del,intron_variant,,,,1,1228448,8.140352705202012e-7,0,0,,,6.74,,0.00,0.0100,-0.890,,,0,28696,0,0,0,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,1,903938,0,0,,,,,0,81084,0,0,0,52650,0,0 +17-43063436-T-C,17,43063436,rs774666969,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-63A>G,,c.5153-63A>G,intron_variant,,,,9,1228448,0.00000732631743468181,0,0,nfe,0.00000381,5.80,,0.00,0.00,-0.890,,,0,28696,0,0,1,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,8,903938,0,0,,,,,0,81084,0,0,0,52650,0,0 +17-43063436-TAGAG-T,17,43063436,rs749668287,TAGAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-67_5153-64del,,c.5153-67_5153-64del,intron_variant,Likely benign,1325653,,2,1228448,0.0000016280705410404023,0,0,sas,0.00000409,7.11,,0.00,0.0200,-0.890,,,0,28696,0,0,0,44068,0,0,0,24722,0,0,0,38380,0,0,0,49578,0,0,0,5332,0,0,0,903938,0,0,,,,,2,81084,0,0,0,52650,0,0 +17-43063440-G-A,17,43063440,rs561146481,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5153-67C>T,,c.5153-67C>T,intron_variant,,,,1,152296,0.000006566160634553764,0,0,,,1.42,,0.00,0.00,-0.737,,,0,41560,0,0,1,15292,0,0,0,3472,0,0,0,5192,0,0,0,10618,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4820,0,0,0,2114,0,0 +17-43063440-G-C,17,43063440,rs561146481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-67C>G,,c.5153-67C>G,intron_variant,,,,1,616550,0.0000016219284729543427,0,0,,,1.19,,0.00,0.00,-0.737,,,0,17312,0,0,0,42866,0,0,0,20868,0,0,0,35572,0,0,0,48252,0,0,0,4140,0,0,1,345986,0,0,,,,,0,68810,0,0,0,32744,0,0 +17-43063442-G-C,17,43063442,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-69C>G,,c.5153-69C>G,intron_variant,,,,1,1157846,8.636727164061542e-7,0,0,,,7.66,,0.00,0.0100,0.632,,,0,27232,0,0,0,43388,0,0,0,24236,0,0,0,37792,0,0,0,48302,0,0,1,5212,0,0,0,842130,0,0,,,,,0,79286,0,0,0,50268,0,0 +17-43063442-G-T,17,43063442,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-69C>A,,c.5153-69C>A,intron_variant,,,,1,1157840,8.636771920127134e-7,0,0,,,7.54,,0.00,-0.0100,0.632,,,0,27230,0,0,0,43388,0,0,0,24236,0,0,0,37792,0,0,0,48302,0,0,0,5212,0,0,1,842126,0,0,,,,,0,79286,0,0,0,50268,0,0 +17-43063443-G-GAACGTGCTCTTT,17,43063443,,G,GAACGTGCTCTTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-71_5153-70insAAAGAGCACGTT,,c.5153-71_5153-70insAAAGAGCACGTT,intron_variant,,,,1,1148606,8.70620560923415e-7,0,0,,,3.78,,0.00,0.0200,0.250,,,0,27062,0,0,0,43282,0,0,0,24180,0,0,0,37736,0,0,0,48068,0,0,0,5192,0,0,1,834052,0,0,,,,,0,79046,0,0,0,49988,0,0 +17-43063443-G-T,17,43063443,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-70C>A,,c.5153-70C>A,intron_variant,,,,1,1148602,8.70623592854618e-7,0,0,,,1.64,,0.00,0.00,0.250,,,0,27062,0,0,0,43282,0,0,0,24180,0,0,0,37736,0,0,1,48066,0,0,0,5192,0,0,0,834050,0,0,,,,,0,79046,0,0,0,49988,0,0 +17-43063444-T-C,17,43063444,rs1480005282,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-71A>G,,c.5153-71A>G,intron_variant,,,,4,1126354,0.0000035512813911079464,0,0,nfe,0.0000011499999999999998,8.86,,0.00,-0.0100,-0.620,,,0,26664,0,0,0,43082,0,0,0,24018,0,0,0,37534,0,0,0,47876,0,0,0,5144,0,0,4,814380,0,0,,,,,0,78516,0,0,0,49140,0,0 +17-43063445-C-A,17,43063445,rs1290801589,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-72G>T,,c.5153-72G>T,intron_variant,,,,6,1256348,0.000004775746847211123,0,0,nfe,0.0000017,0.316,,0.00,0.00,-0.480,,,0,67654,0,0,0,58122,0,0,0,27350,0,0,0,42542,0,0,0,58196,0,0,0,5408,0,0,5,862926,0,0,0,912,0,0,0,82722,0,0,1,50516,0,0 +17-43063446-A-T,17,43063446,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-73T>A,,c.5153-73T>A,intron_variant,,,,8,1106208,0.000007231912985622957,0,0,sas,0.00005099999999999998,8.24,,0.0100,0.0300,0.00200,,,0,26266,0,0,0,42904,0,0,0,23908,0,0,0,37366,0,0,0,47640,0,0,0,5094,0,0,0,796520,0,0,,,,,8,77972,0,0,0,48538,0,0 +17-43063446-AG-A,17,43063446,rs1567768915,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5153-74del,,c.5153-74del,intron_variant,,,,2,1106208,0.0000018079782464057393,0,0,nfe,4.2e-7,4.15,,0.00,-0.0200,0.00200,,,0,26266,0,0,0,42904,0,0,0,23908,0,0,0,37366,0,0,0,47640,0,0,0,5094,0,0,2,796520,0,0,,,,,0,77972,0,0,0,48538,0,0 +17-43063448-C-T,17,43063448,rs531671458,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5153-75G>A,,c.5153-75G>A,intron_variant,,,,12,1251028,0.000009592111447545539,0,0,afr,0.000019790000000000002,0.00900,,0.00,0.00,-12.0,,,4,67686,0,0,1,58010,0,0,0,27334,0,0,0,42448,0,0,1,57900,0,0,0,5376,0,0,6,858390,0,0,0,912,0,0,0,82606,0,0,0,50366,0,0 +17-43063799-G-A,17,43063799,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+75C>T,,c.5152+75C>T,intron_variant,,,,1,447504,0.0000022346168972791303,0,0,,,15.0,,0.00,0.00,1.84,,,0,8112,0,0,0,500,0,0,0,2784,0,0,0,1918,0,0,0,138,0,0,0,862,0,0,1,410078,0,0,,,,,0,8610,0,0,0,14502,0,0 +17-43063801-T-C,17,43063801,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+73A>G,,c.5152+73A>G,intron_variant,,,,1,1072308,9.325678816161028e-7,0,0,,,16.9,,0.00,0.00,2.21,,,0,25556,0,0,0,41244,0,0,0,23460,0,0,1,37242,0,0,0,52322,0,0,0,4840,0,0,0,764142,0,0,,,,,0,76196,0,0,0,47306,0,0 +17-43063803-T-C,17,43063803,rs2051900143,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+71A>G,,c.5152+71A>G,intron_variant,,,,1,609858,0.0000016397259689960613,0,0,,,16.5,,0.00,0.00,1.78,,,1,17236,0,0,0,41182,0,0,0,20620,0,0,0,35406,0,0,0,52356,0,0,0,4002,0,0,0,339176,0,0,,,,,0,67546,0,0,0,32334,0,0 +17-43063805-A-T,17,43063805,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+69T>A,,c.5152+69T>A,intron_variant,,,,1,543642,0.0000018394458117658313,0,0,,,16.1,,0.00,0.00,1.52,,,0,9810,0,0,0,618,0,0,0,3360,0,0,0,2314,0,0,0,180,0,0,0,1048,0,0,1,498062,0,0,,,,,0,10566,0,0,0,17684,0,0 +17-43063806-A-T,17,43063806,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+68T>A,,c.5152+68T>A,intron_variant,,,,5,1168146,0.000004280286881947976,0,0,sas,0.000024560000000000002,13.9,,0.00,0.00,1.28,,,0,27348,0,0,0,42348,0,0,0,24084,0,0,0,37932,0,0,0,52644,0,0,0,5098,0,0,0,849520,0,0,,,,,5,78690,0,0,0,50482,0,0 +17-43063808-C-T,17,43063808,rs3092994,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+66G>A,,c.5152+66G>A,intron_variant,Benign,55428,,441627,1326596,0.33290240585679437,76364,0,sas,0.49429703999999985,11.0,,0.00,0.00,-0.269,,,15924,68972,1863,0,13541,57712,1730,0,10077,27634,1825,0,15338,43214,2770,0,25134,63168,4970,0,2019,5430,398,0,299894,923046,49036,0,260,910,41,0,41721,83726,10684,0,17719,52784,3047,0 +17-43063809-G-A,17,43063809,rs273901745,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+65C>T,,c.5152+65C>T,intron_variant,Likely benign,627758,,21,1351870,0.000015534038036201705,0,0,nfe,0.00001002,16.8,,0.00,0.00,1.55,,,0,69354,0,0,0,58226,0,0,0,27800,0,0,0,43452,0,0,0,63416,0,0,3,5528,0,0,16,944946,0,0,0,912,0,0,0,84526,0,0,2,53710,0,0 +17-43063809-G-T,17,43063809,rs273901745,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+65C>A,,c.5152+65C>A,intron_variant,,,,2,1199756,0.000001667005624476977,0,0,nfe,3.7999999999999996e-7,16.5,,0.00,0.00,1.55,,,0,27930,0,0,0,42960,0,0,0,24332,0,0,0,38254,0,0,0,52814,0,0,0,5212,0,0,2,876940,0,0,,,,,0,79694,0,0,0,51620,0,0 +17-43063811-T-C,17,43063811,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+63A>G,,c.5152+63A>G,intron_variant,,,,3,1213642,0.0000024718986323808833,0,0,nfe,3.7000000000000006e-7,18.3,,0.00,-0.0100,1.16,,,0,28236,0,0,0,43242,0,0,1,24422,0,0,0,38380,0,0,0,52922,0,0,0,5244,0,0,2,889006,0,0,,,,,0,80124,0,0,0,52066,0,0 +17-43063811-T-A,17,43063811,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+63A>T,,c.5152+63A>T,intron_variant,,,,2,1213642,0.0000016479324215872555,0,0,nfe,3.7000000000000006e-7,17.7,,0.00,0.00,1.16,,,0,28236,0,0,0,43242,0,0,0,24422,0,0,0,38380,0,0,0,52922,0,0,0,5244,0,0,2,889006,0,0,,,,,0,80124,0,0,0,52066,0,0 +17-43063812-A-C,17,43063812,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+62T>G,,c.5152+62T>G,intron_variant,,,,1,1212758,8.245668138243574e-7,0,0,,,18.0,,0.00,-0.0200,0.533,,,1,28220,0,0,0,43274,0,0,0,24398,0,0,0,38386,0,0,0,52932,0,0,0,5242,0,0,0,888126,0,0,,,,,0,80140,0,0,0,52040,0,0 +17-43063812-A-G,17,43063812,rs2153579334,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+62T>C,,c.5152+62T>C,intron_variant,Likely benign,1325654,,1,1212758,8.245668138243574e-7,0,0,,,18.0,,0.00,-0.0100,0.533,,,0,28220,0,0,0,43274,0,0,0,24398,0,0,0,38386,0,0,0,52932,0,0,0,5242,0,0,1,888126,0,0,,,,,0,80140,0,0,0,52040,0,0 +17-43063814-G-C,17,43063814,rs1383295945,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5152+60C>G,,c.5152+60C>G,intron_variant,,,,1,152148,0.000006572547782422378,0,0,,,16.6,,0.00,0.00,1.99,,,1,41422,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10612,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43063816-G-T,17,43063816,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+58C>A,,c.5152+58C>A,intron_variant,,,,1,1292114,7.739255205036088e-7,0,0,,,18.0,,0.00,0.00,3.72,,,0,29840,0,0,0,43648,0,0,0,24942,0,0,0,38802,0,0,0,53030,0,0,0,5410,0,0,1,959964,0,0,,,,,0,81878,0,0,0,54600,0,0 +17-43063816-G-A,17,43063816,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+58C>T,,c.5152+58C>T,intron_variant,,,,1,1292116,7.739243225840405e-7,0,0,,,18.3,,0.00,0.00,3.72,,,0,29840,0,0,0,43648,0,0,0,24942,0,0,0,38802,0,0,0,53030,0,0,0,5410,0,0,1,959966,0,0,,,,,0,81878,0,0,0,54600,0,0 +17-43063817-TA-T,17,43063817,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+56del,,c.5152+56del,intron_variant,,,,4,1310106,0.000003053188062645313,0,0,nfe,9.6e-7,13.7,,0.00,-0.0300,0.824,,,0,30222,0,0,0,43750,0,0,0,25068,0,0,0,38896,0,0,0,53056,0,0,0,5438,0,0,4,976194,0,0,,,,,0,82258,0,0,0,55224,0,0 +17-43063817-T-C,17,43063817,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+57A>G,,c.5152+57A>G,intron_variant,,,,2,1310106,0.0000015265940313226564,0,0,,,18.1,,0.00,0.00,0.824,,,0,30222,0,0,0,43750,0,0,0,25068,0,0,1,38896,0,0,0,53056,0,0,0,5438,0,0,0,976194,0,0,,,,,0,82258,0,0,1,55224,0,0 +17-43063822-A-G,17,43063822,rs2051901075,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+52T>C,,c.5152+52T>C,intron_variant,,,,1,623346,0.0000016042454752256372,0,0,,,17.1,,0.00,0.00,1.57,,,0,17592,0,0,0,43190,0,0,0,20826,0,0,0,35950,0,0,0,52914,0,0,0,4120,0,0,0,346828,0,0,,,,,1,69036,0,0,0,32890,0,0 +17-43063823-T-C,17,43063823,rs759143469,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+51A>G,,c.5152+51A>G,intron_variant,,,,4,1486526,0.0000026908375635542197,0,0,,,17.9,,0.00,0.00,1.25,,,2,72160,0,0,0,59350,0,0,0,28710,0,0,1,44230,0,0,0,63770,0,0,0,5804,0,0,0,1065500,0,0,0,912,0,0,1,87922,0,0,0,58168,0,0 +17-43063825-C-T,17,43063825,rs2153579774,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+49G>A,,c.5152+49G>A,intron_variant,,,,1,1351386,7.399810268864706e-7,0,0,,,15.6,,0.00,0.00,1.07,,,0,31056,0,0,0,44122,0,0,0,25360,0,0,0,39104,0,0,0,53172,0,0,0,5530,0,0,1,1012904,0,0,,,,,0,83476,0,0,0,56662,0,0 +17-43063829-T-G,17,43063829,rs764977822,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+45A>C,,c.5152+45A>C,intron_variant,,,,1,1367650,7.311812232661865e-7,0,0,,,16.7,,0.00,0.00,3.23,,,0,31398,0,0,0,44338,0,0,0,25480,0,0,0,39206,0,0,0,53256,0,0,0,5584,0,0,0,1027112,0,0,,,,,1,83954,0,0,0,57322,0,0 +17-43063831-TGAGGTGTTAAAGG-T,17,43063831,,TGAGGTGTTAAAGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+30_5152+42del,,c.5152+30_5152+42del,intron_variant,,,,4,748012,0.00000534750779399261,0,0,nfe,0.0000013700000000000002,16.9,,0.00,-0.0400,0.419,,,0,13880,0,0,0,874,0,0,0,4626,0,0,0,3240,0,0,0,248,0,0,0,1458,0,0,4,684468,0,0,,,,,0,14708,0,0,0,24510,0,0 +17-43063833-A-G,17,43063833,rs752437850,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+41T>C,,c.5152+41T>C,intron_variant,,,,2,1375070,0.000001454471408728283,0,0,,,18.9,,0.00,0.00,3.48,,,0,31558,0,0,0,44438,0,0,0,25516,0,0,0,39254,0,0,0,53284,0,0,0,5602,0,0,1,1033662,0,0,,,,,1,84214,0,0,0,57542,0,0 +17-43063835-G-A,17,43063835,rs757676453,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+39C>T,,c.5152+39C>T,intron_variant,,,,14,1532468,0.000009135590433209699,0,0,afr,0.00009425999999999998,19.2,,0.00,0.00,5.58,,,12,73098,0,0,0,59780,0,0,0,29046,0,0,0,44474,0,0,0,63896,0,0,0,5928,0,0,2,1106324,0,0,0,912,0,0,0,89214,0,0,0,59796,0,0 +17-43063835-G-T,17,43063835,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+39C>A,,c.5152+39C>A,intron_variant,,,,1,1380338,7.244602408975193e-7,0,0,,,19.0,,0.00,0.00,5.58,,,0,31672,0,0,0,44518,0,0,0,25574,0,0,0,39280,0,0,0,53300,0,0,0,5612,0,0,1,1038296,0,0,,,,,0,84384,0,0,0,57702,0,0 +17-43063836-T-C,17,43063836,rs1331338493,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+38A>G,,c.5152+38A>G,intron_variant,,,,3,1536556,0.000001952418265263355,0,0,nfe,7.200000000000001e-7,20.1,,0.00,0.00,1.28,,,0,73152,0,0,0,59772,0,0,0,29068,0,0,0,44478,0,0,0,63896,0,0,0,5932,0,0,3,1110162,0,0,0,912,0,0,0,89292,0,0,0,59892,0,0 +17-43063837-G-T,17,43063837,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+37C>A,,c.5152+37C>A,intron_variant,,,,1,1406626,7.109210266268361e-7,0,0,,,18.5,,0.00,0.00,3.92,,,0,32236,0,0,0,44568,0,0,0,25724,0,0,0,39406,0,0,0,53318,0,0,0,5674,0,0,1,1062194,0,0,,,,,0,84970,0,0,0,58536,0,0 +17-43063839-TAAAG-T,17,43063839,rs779022501,TAAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+31_5152+34del,,c.5152+31_5152+34del,intron_variant,,,,7,1568836,0.000004461906789492337,0,0,eas,0.00007289999999999998,15.2,,0.00,-0.0300,2.28,,,0,74014,0,0,0,59898,0,0,0,29250,0,0,7,44660,0,0,0,63974,0,0,0,5982,0,0,0,1139070,0,0,0,912,0,0,0,90038,0,0,0,61038,0,0 +17-43063840-A-T,17,43063840,rs2051901994,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+34T>A,,c.5152+34T>A,intron_variant,,,,1,789324,0.0000012669068722096375,0,0,,,17.2,,0.00,-0.0100,0.492,,,0,14804,0,0,0,928,0,0,0,4862,0,0,0,3436,0,0,0,266,0,0,0,1542,0,0,1,722038,0,0,,,,,0,15602,0,0,0,25846,0,0 +17-43063842-A-T,17,43063842,rs2051902293,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+32T>A,,c.5152+32T>A,intron_variant,,,,1,792570,0.0000012617182078554575,0,0,,,16.7,,0.00,-0.0100,0.227,,,0,14864,0,0,0,940,0,0,0,4870,0,0,0,3468,0,0,0,268,0,0,0,1552,0,0,1,724978,0,0,,,,,0,15662,0,0,0,25968,0,0 +17-43063842-A-G,17,43063842,rs2051902293,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5152+32T>C,,c.5152+32T>C,intron_variant,,,,1,152202,0.000006570215897294385,0,0,,,16.9,,0.00,0.00,0.227,,,1,41450,0,0,0,15278,0,0,0,3472,0,0,0,5198,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43063843-G-A,17,43063843,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+31C>T,,c.5152+31C>T,intron_variant,,,,1,1421110,7.036752960713808e-7,0,0,,,13.9,,0.00,0.00,1.37,,,0,32580,0,0,0,44640,0,0,0,25814,0,0,0,39462,0,0,0,53354,0,0,0,5706,0,0,0,1075180,0,0,,,,,1,85326,0,0,0,59048,0,0 +17-43063847-G-C,17,43063847,rs1398205276,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+27C>G,,c.5152+27C>G,intron_variant,,,,2,1427550,0.0000014010017162271023,0,0,eas,0.00000838,2.92,,0.0200,-0.0100,0.580,,,0,32712,0,0,0,44658,0,0,0,25880,0,0,2,39524,0,0,0,53374,0,0,0,5706,0,0,0,1080950,0,0,,,,,0,85488,0,0,0,59258,0,0 +17-43063849-A-AG,17,43063849,,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+24dup,,c.5152+24dup,intron_variant,,,,1,803022,0.0000012452958947575533,0,0,,,4.24,,0.00,0.0100,1.60,,,0,15108,0,0,0,946,0,0,0,4948,0,0,0,3496,0,0,0,270,0,0,0,1574,0,0,1,734488,0,0,,,,,0,15878,0,0,0,26314,0,0 +17-43063852-G-A,17,43063852,rs2153580925,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+22C>T,,c.5152+22C>T,intron_variant,,,,1,1440522,6.941927995546059e-7,0,0,,,1.94,,0.00,0.00,1.26,,,0,33000,0,0,0,44688,0,0,0,25992,0,0,0,39552,0,0,0,53386,0,0,0,5734,0,0,1,1092668,0,0,,,,,0,85796,0,0,0,59706,0,0 +17-43063853-G-C,17,43063853,rs2153581002,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+21C>G,,c.5152+21C>G,intron_variant,,,,1,1441910,6.935245611723339e-7,0,0,,,9.25,,0.0200,-0.0200,2.62,,,0,33026,0,0,0,44688,0,0,0,26006,0,0,0,39562,0,0,1,53390,0,0,0,5736,0,0,0,1093936,0,0,,,,,0,85826,0,0,0,59740,0,0 +17-43063854-A-T,17,43063854,rs376836050,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+20T>A,,c.5152+20T>A,intron_variant,Benign/Likely benign,132704,,114,1596030,0.0000714272288114885,0,0,amr,0.00023414999999999997,10.1,,0.0300,-0.0200,2.74,,,0,74636,0,0,21,59980,0,0,27,29490,0,0,0,44756,0,0,0,64020,0,0,1,6030,0,0,50,1163612,0,0,0,912,0,0,0,90674,0,0,15,61920,0,0 +17-43063855-GA-G,17,43063855,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+18del,,c.5152+18del,intron_variant,,,,1,1445964,6.915801499899029e-7,0,0,,,5.68,,0.00,-0.0300,0.0540,,,0,33120,0,0,0,44702,0,0,0,26028,0,0,0,39580,0,0,0,53398,0,0,0,5746,0,0,1,1097596,0,0,,,,,0,85920,0,0,0,59874,0,0 +17-43063855-G-T,17,43063855,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+19C>A,,c.5152+19C>A,intron_variant,,,,2,1445964,0.0000013831602999798058,0,0,nfe,2.999999999999999e-7,2.43,,0.00,-0.0100,0.0540,,,0,33120,0,0,0,44702,0,0,0,26028,0,0,0,39580,0,0,0,53398,0,0,0,5746,0,0,2,1097596,0,0,,,,,0,85920,0,0,0,59874,0,0 +17-43063859-T-C,17,43063859,rs750905289,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+15A>G,,c.5152+15A>G,intron_variant,Conflicting interpretations of pathogenicity,377573,,58,1601662,0.00003621238438571933,0,0,afr,0.000034839999999999985,1.15,,0.0100,-0.0200,-0.476,,,6,74606,0,0,1,59964,0,0,0,29532,0,0,0,44790,0,0,0,64000,0,0,0,6064,0,0,50,1168876,0,0,0,912,0,0,0,90850,0,0,1,62068,0,0 +17-43063861-G-T,17,43063861,rs80358136,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+13C>A,,c.5152+13C>A,intron_variant,Uncertain significance,125767,,1,822226,0.0000012162106282214378,0,0,,,3.03,,0.0200,-0.0100,-0.725,,,0,15534,0,0,0,978,0,0,0,5088,0,0,0,3572,0,0,0,274,0,0,0,1598,0,0,1,751998,0,0,,,,,0,16264,0,0,0,26920,0,0 +17-43063862-T-TATTATACTTACAGAAATAGC,17,43063862,,T,TATTATACTTACAGAAATAGC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5144_5152+11dup,,c.5144_5152+11dup,intron_variant,,,,1,1452298,6.885639173227534e-7,0,0,,,3.77,,0.0500,-0.0900,-0.877,,,1,33260,0,0,0,44716,0,0,0,26082,0,0,0,39630,0,0,0,53406,0,0,0,5748,0,0,0,1103332,0,0,,,,,0,86060,0,0,0,60064,0,0 +17-43063862-T-C,17,43063862,rs756586490,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+12A>G,,c.5152+12A>G,intron_variant,Likely benign,2148450,,1,1452298,6.885639173227534e-7,0,0,,,0.831,,0.0200,-0.0200,-0.877,,,0,33260,0,0,0,44716,0,0,0,26082,0,0,0,39630,0,0,0,53406,0,0,0,5748,0,0,0,1103332,0,0,,,,,1,86060,0,0,0,60064,0,0 +17-43063864-T-C,17,43063864,rs80358114,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5152+10A>G,,c.5152+10A>G,intron_variant,Benign/Likely benign,37641,,5,780824,0.000006403491695951968,0,0,nfe,0.0000045,3.39,,0.0900,-0.120,-1.72,,,0,59148,0,0,0,59006,0,0,0,24450,0,0,0,41240,0,0,0,63746,0,0,0,4462,0,0,5,418084,0,0,0,912,0,0,0,74592,0,0,0,35184,0,0 +17-43063866-A-G,17,43063866,rs1567769120,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+8T>C,,c.5152+8T>C,splice_region_variant,Likely benign,627715,,1,1455596,6.870038114971462e-7,0,0,,,6.51,,0.0400,-0.0300,0.230,,,0,33340,0,0,0,44716,0,0,0,26110,0,0,1,39646,0,0,0,53410,0,0,0,5754,0,0,0,1106298,0,0,,,,,0,86144,0,0,0,60178,0,0 +17-43063866-A-T,17,43063866,rs1567769120,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+8T>A,,c.5152+8T>A,splice_region_variant,not provided,868724,,1,1455596,6.870038114971462e-7,0,0,,,7.10,,0.100,-0.0800,0.230,,,0,33340,0,0,0,44716,0,0,0,26110,0,0,0,39646,0,0,0,53410,0,0,0,5754,0,0,1,1106298,0,0,,,,,0,86144,0,0,0,60178,0,0 +17-43063867-T-C,17,43063867,rs80358046,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+7A>G,,c.5152+7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,96940,,1,827702,0.0000012081642910129491,0,0,,,15.6,,0.360,-0.530,0.147,,,1,15658,0,0,0,980,0,0,0,5134,0,0,0,3604,0,0,0,276,0,0,0,1602,0,0,0,756960,0,0,,,,,0,16372,0,0,0,27116,0,0 +17-43063868-A-G,17,43063868,rs80358074,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+6T>C,,c.5152+6T>C,intron_variant,Conflicting interpretations of pathogenicity,125777,,1,827506,0.0000012084504523230044,0,0,,,23.6,,0.700,-0.790,4.61,,,0,15648,0,0,0,980,0,0,0,5130,0,0,0,3608,0,0,0,276,0,0,0,1610,0,0,0,756796,0,0,,,,,0,16370,0,0,1,27088,0,0 +17-43063869-C-G,17,43063869,rs80358165,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+5G>C,,c.5152+5G>C,intron_variant,Pathogenic,220736,,1,828850,0.0000012064909211558183,0,0,,,25.7,,0.900,-0.830,8.79,,,0,15682,0,0,0,980,0,0,0,5128,0,0,0,3614,0,0,0,276,0,0,0,1614,0,0,1,758014,0,0,,,,,0,16392,0,0,0,27150,0,0 +17-43063870-T-C,17,43063870,rs397509232,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+4A>G,,c.5152+4A>G,intron_variant,Conflicting interpretations of pathogenicity,55426,,1,1457702,6.860112697931401e-7,0,0,,,24.0,,0.800,-0.790,6.28,,,0,33380,0,0,0,44718,0,0,0,26108,0,0,0,39656,0,0,0,53408,0,0,0,5762,0,0,1,1108244,0,0,,,,,0,86182,0,0,0,60244,0,0 +17-43063873-C-A,17,43063873,rs80358094,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5152+1G>T,,c.5152+1G>T,splice_donor_variant,Pathogenic,55423,,2,830196,0.0000024090696654765864,0,0,nfe,4.4e-7,33.0,,0.900,-0.840,8.79,,,0,15720,0,0,0,980,0,0,0,5140,0,0,0,3616,0,0,0,276,0,0,0,1614,0,0,2,759246,0,0,,,,,0,16404,0,0,0,27200,0,0 +17-43063879-T-C,17,43063879,rs587782456,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1716Cys,p.Tyr1716Cys,c.5147A>G,missense_variant,Conflicting interpretations of pathogenicity,142424,,2,1460556,0.0000013693415384278315,0,0,,,28.5,0.730,0.00,0.00,6.28,0.00,0.999,0,33464,0,0,0,44724,0,0,0,26128,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,0,1110806,0,0,,,,,1,86232,0,0,1,60344,0,0 +17-43063882-C-T,17,43063882,rs45444999,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1715Asn,p.Ser1715Asn,c.5144G>A,missense_variant,Pathogenic,55416,,2,831688,0.0000024047479343215244,0,0,nfe,4.4e-7,25.6,0.299,0.0100,0.0100,8.79,0.00,0.112,0,15770,0,0,0,984,0,0,0,5142,0,0,0,3624,0,0,0,276,0,0,0,1616,0,0,2,760616,0,0,,,,,0,16418,0,0,0,27242,0,0 +17-43063885-A-C,17,43063885,rs80357243,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1714Gly,p.Val1714Gly,c.5141T>G,missense_variant,Pathogenic/Likely pathogenic,55413,,1,831996,0.0000012019288554271895,0,0,,,33.0,0.856,0.950,0.820,6.26,0.00,0.00600,0,15768,0,0,0,982,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,760888,0,0,,,,,0,16430,0,0,0,27262,0,0 +17-43063887-T-C,17,43063887,rs1555578550,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Val,p.Val1713Val,c.5139A>G,synonymous_variant,Likely benign,481472,,3,832484,0.0000036036728633823594,0,0,nfe,0.00000105,9.85,,0.0100,0.00,3.79,,,0,15774,0,0,0,982,0,0,0,5150,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,3,761324,0,0,,,,,0,16454,0,0,0,27278,0,0 +17-43063888-A-C,17,43063888,rs80357132,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Gly,p.Val1713Gly,c.5138T>G,missense_variant,Pathogenic,868702,,1,1461224,6.843577712931077e-7,0,0,,,28.5,0.756,0.0300,0.0100,6.26,0.00,0.0400,0,33468,0,0,0,44724,0,0,0,26130,0,0,0,39676,0,0,0,53416,0,0,0,5768,0,0,1,1111430,0,0,,,,,0,86240,0,0,0,60372,0,0 +17-43063888-AC-A,17,43063888,rs80357997,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1713Ter,p.Val1713Ter,c.5137del,frameshift_variant,Pathogenic,55411,,1,1461224,6.843577712931077e-7,0,0,,,32.0,,0.00,-0.100,6.26,,,0,33468,0,0,0,44724,0,0,0,26130,0,0,0,39676,0,0,0,53416,0,0,0,5768,0,0,1,1111430,0,0,,,,,0,86240,0,0,0,60372,0,0 +17-43063890-C-T,17,43063890,rs80357418,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1712Ter,p.Trp1712Ter,c.5136G>A,stop_gained,Pathogenic,55410,,2,628722,0.0000031810561742709815,0,0,,,45.0,,0.00,-0.0500,8.79,,,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43063895-T-G,17,43063895,rs886040272,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1711Gln,p.Lys1711Gln,c.5131A>C,missense_variant,Conflicting interpretations of pathogenicity,409313,,1,152210,0.000006569870573549701,0,0,,,25.2,0.654,0.00,0.00,4.67,,,0,41452,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43063897-C-T,17,43063897,rs398122691,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1710Glu,p.Gly1710Glu,c.5129G>A,missense_variant,Conflicting interpretations of pathogenicity,91638,,3,780842,0.00000384200644944816,0,0,,,25.4,0.832,0.00,0.00,8.79,0.0700,0.0380,0,59118,0,0,1,58992,0,0,0,24450,0,0,0,41246,0,0,0,63750,0,0,0,4464,0,0,2,418106,0,0,0,910,0,0,0,74620,0,0,0,35186,0,0 +17-43063898-C-T,17,43063898,rs397509229,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1710Arg,p.Gly1710Arg,c.5128G>A,missense_variant,Uncertain significance,801083,,20,1614004,0.000012391543019719902,0,0,sas,0.00010969999999999998,23.7,0.668,0.00,0.00,6.97,0.290,0.484,0,75012,0,0,0,60010,0,0,0,29604,0,0,0,44870,0,0,0,64028,0,0,0,6062,0,0,2,1179924,0,0,0,912,0,0,16,91082,0,0,2,62500,0,0 +17-43063900-C-T,17,43063900,rs786204269,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1709Glu,p.Gly1709Glu,c.5126G>A,missense_variant,Uncertain significance,188417,,1,628724,0.0000015905230275923935,0,0,,,25.4,0.784,0.00,0.00,7.01,0.00,0.969,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43063901-C-T,17,43063901,rs886038197,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1709Arg,p.Gly1709Arg,c.5125G>A,missense_variant,Uncertain significance,254642,,1,628728,0.0000015905129086027663,0,0,,,25.3,0.781,0.0900,0.00,5.87,0.00,0.263,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53140,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43063902-C-T,17,43063902,rs1057520432,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1708Ala,p.Ala1708Ala,c.5124G>A,synonymous_variant,Likely benign,378958,,13,1613796,0.000008055541096892048,0,0,afr,0.00001747,8.59,,0.100,0.00,0.967,,,4,74884,0,0,0,59988,0,0,0,29604,0,0,0,44872,0,0,0,63992,0,0,0,6084,0,0,8,1179912,0,0,0,912,0,0,0,91074,0,0,1,62474,0,0 +17-43063903-G-A,17,43063903,rs28897696,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1708Val,p.Ala1708Val,c.5123C>T,missense_variant,Uncertain significance,37640,,32,1613780,0.000019829220835553792,0,0,afr,0.00019869999999999998,28.2,0.789,0.110,-0.130,8.69,0.00,0.466,22,74888,0,0,0,59976,0,0,0,29600,0,0,1,44876,0,0,0,64012,0,0,0,6084,0,0,7,1179882,0,0,0,912,0,0,0,91072,0,0,2,62478,0,0 +17-43063903-G-C,17,43063903,rs28897696,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Gly,p.Ala1708Gly,c.5123C>G,missense_variant,Uncertain significance,867673,,2,1461684,0.0000013682848002714677,0,0,,,32.0,0.789,0.340,-0.420,8.69,0.00,0.00300,0,33474,0,0,0,44724,0,0,0,26130,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,0,1111860,0,0,,,,,1,86250,0,0,1,60388,0,0 +17-43063903-G-T,17,43063903,rs28897696,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Glu,p.Ala1708Glu,c.5123C>A,missense_variant,Pathogenic,55407,,7,1461684,0.000004788996800950137,0,0,amr,0.000007410000000000001,27.7,0.831,0.150,-0.160,8.69,0.00,0.633,0,33474,0,0,2,44724,0,0,0,26130,0,0,0,39674,0,0,0,53416,0,0,0,5768,0,0,5,1111860,0,0,,,,,0,86250,0,0,0,60388,0,0 +17-43063904-C-T,17,43063904,rs397507243,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1708Thr,p.Ala1708Thr,c.5122G>A,missense_variant,Uncertain significance,37639,,4,628724,0.000006362092110369574,0,0,sas,0.000019370000000000003,25.6,0.734,0.0100,-0.0300,8.79,0.00,0.244,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53138,0,0,0,4148,0,0,0,350084,0,0,,,,,4,69794,0,0,0,33096,0,0 +17-43063907-T-G,17,43063907,rs1597820147,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1707Leu,p.Ile1707Leu,c.5119A>C,missense_variant,Uncertain significance,825461,,1,833068,0.000001200382201693019,0,0,,,25.5,0.564,0.0300,0.00,3.67,0.0100,0.0980,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761866,0,0,,,,,0,16460,0,0,0,27294,0,0 +17-43063909-C-G,17,43063909,rs80356860,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1706Ala,p.Gly1706Ala,c.5117G>C,missense_variant,Benign,55406,,75,1614060,0.000046466674101334525,0,0,nfe,0.0000315,25.3,0.518,0.0400,-0.0100,8.79,0.00,0.353,0,75038,0,0,4,59998,0,0,0,29604,0,0,0,44864,0,0,8,64028,0,0,4,6062,0,0,48,1179976,0,0,0,912,0,0,0,91072,0,0,11,62506,0,0 +17-43063909-C-T,17,43063909,rs80356860,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1706Glu,p.Gly1706Glu,c.5117G>A,missense_variant,Pathogenic,37638,,2,1613942,0.0000012392019044054866,0,0,,,25.8,0.863,0.0200,-0.0100,8.79,0.00,0.319,0,74916,0,0,0,59978,0,0,0,29604,0,0,0,44876,0,0,0,64028,0,0,0,6084,0,0,2,1179984,0,0,0,912,0,0,0,91076,0,0,0,62484,0,0 +17-43063911-T-G,17,43063911,rs772885662,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5115A>C,synonymous_variant,Likely benign,427358,,2,781028,0.0000025607276563708343,0,0,,,8.13,,0.150,0.00,2.78,,,0,59256,0,0,0,59038,0,0,0,24448,0,0,0,41236,0,0,0,63756,0,0,0,4442,0,0,0,418114,0,0,0,912,0,0,2,74616,0,0,0,35210,0,0 +17-43063911-T-C,17,43063911,rs772885662,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5115A>G,synonymous_variant,not provided,868670,,1,628738,0.0000015904876116919926,0,0,,,8.04,,0.0500,-0.0100,2.78,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53144,0,0,0,4148,0,0,0,350092,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43063913-G-A,17,43063913,rs80356858,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1705Leu,p.Leu1705Leu,c.5113C>T,synonymous_variant,Likely benign,55405,,1,833078,0.0000012003677926916808,0,0,,,10.5,,0.120,-0.100,4.04,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43063914-A-G,17,43063914,rs2051921852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1704Phe,p.Phe1704Phe,c.5112T>C,synonymous_variant,not provided,864968,,2,628738,0.000003180975223383985,0,0,nfe,9.5e-7,9.26,,0.0600,0.00,0.243,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53144,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43063916-A-G,17,43063916,rs1555578599,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1704Leu,p.Phe1704Leu,c.5110T>C,missense_variant,Uncertain significance,440479,,2,833082,0.0000024007240583760064,0,0,nfe,4.4e-7,27.3,0.631,0.0800,0.00,6.26,0.00,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761878,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43063917-A-G,17,43063917,rs80356974,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1703Tyr,p.Tyr1703Tyr,c.5109T>C,synonymous_variant,Likely benign,240815,,1,833096,0.0000012003418573609765,0,0,,,6.04,,0.0400,0.00,1.46,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43063920-T-C,17,43063920,rs1060504574,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1702Lys,p.Lys1702Lys,c.5106A>G,synonymous_variant,Conflicting interpretations of pathogenicity,415579,,4,833090,0.000004801402009386741,0,0,nfe,0.0000012299999999999999,6.78,,0.0400,0.00,0.00400,,,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43063923-C-T,17,43063923,rs1060504591,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1701Leu,p.Leu1701Leu,c.5103G>A,synonymous_variant,Likely benign,415605,,7,1461820,0.000004788551258020824,0,0,nfe,0.0000026200000000000003,12.2,,0.130,-0.140,4.97,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53416,0,0,0,5768,0,0,7,1111974,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43063925-G-T,17,43063925,rs910555398,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1701Met,p.Leu1701Met,c.5101C>A,missense_variant,Conflicting interpretations of pathogenicity,409300,,1,152118,0.00000657384398953444,0,0,,,24.3,0.563,0.0100,-0.0100,4.85,,,1,41430,0,0,0,15262,0,0,0,3470,0,0,0,5188,0,0,0,10602,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43063925-G-C,17,43063925,rs910555398,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1701Val,p.Leu1701Val,c.5101C>G,missense_variant,not provided,864951,,4,833100,0.000004801344376425399,0,0,nfe,0.0000012299999999999999,24.2,0.584,0.0100,-0.0500,4.85,0.00,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43063926-T-C,17,43063926,rs45519437,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1700Thr,p.Thr1700Thr,c.5100A>G,synonymous_variant,Likely benign,184204,,33,1613968,0.00002044650203721511,0,0,nfe,0.00001567,6.42,,0.0100,0.00,-2.00,,,0,74914,0,0,2,59994,0,0,0,29604,0,0,0,44866,0,0,0,64026,0,0,1,6084,0,0,27,1180000,0,0,0,912,0,0,2,91084,0,0,1,62484,0,0 +17-43063930-C-T,17,43063930,rs41293459,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Gln,p.Arg1699Gln,c.5096G>A,missense_variant,Pathogenic,37636,,30,1613816,0.00001858947984156806,0,0,eas,0.00001774,31.0,0.785,0.150,-0.240,8.79,0.00,0.390,0,74854,0,0,0,59980,0,0,0,29598,0,0,3,44856,0,0,0,64006,0,0,0,6084,0,0,25,1179960,0,0,0,912,0,0,1,91080,0,0,1,62486,0,0 +17-43063931-G-T,17,43063931,rs55770810,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Arg,p.Arg1699Arg,c.5095C>A,synonymous_variant,Likely benign,55395,,10,1613828,0.000006196447205030523,0,0,afr,0.00007231999999999999,12.5,,0.130,-0.210,8.69,,,10,74880,0,0,0,59980,0,0,0,29604,0,0,0,44864,0,0,0,64014,0,0,0,6084,0,0,0,1179932,0,0,0,912,0,0,0,91076,0,0,0,62482,0,0 +17-43063931-G-A,17,43063931,rs55770810,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1699Trp,p.Arg1699Trp,c.5095C>T,missense_variant,Pathogenic,55396,,13,1613828,0.000008055381366539681,0,0,nfe,0.00000247,32.0,0.817,0.140,-0.200,8.69,0.00,0.886,0,74880,0,0,0,59980,0,0,0,29604,0,0,1,44864,0,0,3,64014,0,0,1,6084,0,0,7,1179932,0,0,0,912,0,0,1,91076,0,0,0,62482,0,0 +17-43063932-T-C,17,43063932,rs764891781,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1698Glu,p.Glu1698Glu,c.5094A>G,synonymous_variant,Likely benign,184426,,4,628722,0.000006362112348541963,0,0,nfe,0.0000036699999999999996,9.22,,0.0200,-0.0200,0.283,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36048,0,0,0,53142,0,0,0,4148,0,0,4,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43063936-C-G,17,43063936,rs397507241,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1697Ser,p.Cys1697Ser,c.5090G>C,missense_variant,Uncertain significance,867630,,1,628726,0.0000015905179680814854,0,0,,,26.1,0.891,0.00,0.0100,8.79,0.00,0.650,0,17694,0,0,1,43740,0,0,0,20978,0,0,0,36050,0,0,0,53140,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43063938-C-T,17,43063938,rs878854956,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1696Val,p.Val1696Val,c.5088G>A,synonymous_variant,Likely benign,240814,,2,1461794,0.0000013681818368388433,0,0,nfe,2.999999999999999e-7,7.67,,0.0400,-0.0400,-0.283,,,0,33476,0,0,0,44722,0,0,0,26130,0,0,0,39680,0,0,0,53414,0,0,0,5768,0,0,2,1111962,0,0,,,,,0,86248,0,0,0,60394,0,0 +17-43063940-CAA-C,17,43063940,rs80357760,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1695CysfsTer3,p.Phe1695CysfsTer3,c.5084_5085del,frameshift_variant,Pathogenic,55388,,1,1461774,6.841002781551731e-7,0,0,,,33.0,,0.0300,-0.0800,8.79,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39678,0,0,0,53418,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43063940-C-G,17,43063940,rs80357125,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1696Leu,p.Val1696Leu,c.5086G>C,missense_variant,Uncertain significance,55390,,4,1461774,0.0000027364011126206926,0,0,nfe,8.4e-7,25.6,0.630,0.00,0.00,8.79,0.00,0.238,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39678,0,0,0,53418,0,0,0,5768,0,0,4,1111934,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43063943-A-G,17,43063943,rs2051934276,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1695Leu,p.Phe1695Leu,c.5083T>C,missense_variant,Uncertain significance,868624,,2,833056,0.0000024007989859025085,0,0,nfe,4.4e-7,18.9,0.511,0.00,0.00,0.802,0.570,0.0850,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761852,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43063946-C-A,17,43063946,rs80356896,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1694Ter,p.Glu1694Ter,c.5080G>T,stop_gained,Pathogenic,55387,,3,1461734,0.0000020523569951851703,0,0,nfe,7.200000000000001e-7,47.0,,0.400,-0.650,5.83,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53410,0,0,0,5766,0,0,3,1111906,0,0,,,,,0,86250,0,0,0,60386,0,0 +17-43063947-A-G,17,43063947,rs2051936328,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1693Ala,p.Ala1693Ala,c.5079T>C,synonymous_variant,not provided,867623,,1,832990,0.000001200494603776756,0,0,,,7.34,,0.00,0.00,-0.864,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761792,0,0,,,,,0,16460,0,0,0,27290,0,0 +17-43063948-G-C,17,43063948,rs1567769586,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1693Gly,p.Ala1693Gly,c.5078C>G,missense_variant,not provided,867621,,1,832982,0.0000012005061333858355,0,0,,,25.8,0.631,0.310,-0.270,2.29,0.0500,0.0270,0,15786,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761788,0,0,,,,,0,16460,0,0,0,27290,0,0 +17-43063954-G-A,17,43063954,rs398122690,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5075-3C>T,,c.5075-3C>T,splice_region_variant,Conflicting interpretations of pathogenicity,384512,,1,152148,0.000006572547782422378,0,0,,,12.5,,0.250,-0.280,1.20,,,0,41428,0,0,1,15272,0,0,0,3472,0,0,0,5194,0,0,0,10612,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43063955-C-A,17,43063955,rs397509220,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-4G>T,,c.5075-4G>T,splice_region_variant,Likely benign,825418,,2,1461548,0.000001368412121941941,0,0,nfe,2.999999999999999e-7,8.09,,0.190,-0.170,-0.00100,,,0,33474,0,0,0,44724,0,0,0,26128,0,0,0,39680,0,0,0,53398,0,0,0,5768,0,0,2,1111764,0,0,,,,,0,86232,0,0,0,60380,0,0 +17-43063956-A-G,17,43063956,rs775235695,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-5T>C,,c.5075-5T>C,splice_region_variant,Likely benign,868608,,1,628664,0.0000015906748278889837,0,0,,,9.02,,0.00,0.00,0.313,,,0,17694,0,0,1,43738,0,0,0,20978,0,0,0,36048,0,0,0,53126,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69778,0,0,0,33090,0,0 +17-43063957-G-T,17,43063957,rs397507240,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-6C>A,,c.5075-6C>A,splice_region_variant,Conflicting interpretations of pathogenicity,37634,,35,1613610,0.00002169049522499241,0,0,nfe,0.00001995,11.2,,0.240,-0.280,1.82,,,1,74914,0,0,0,59986,0,0,0,29596,0,0,0,44872,0,0,0,64008,0,0,0,6084,0,0,33,1179702,0,0,0,912,0,0,0,91060,0,0,1,62476,0,0 +17-43063958-A-C,17,43063958,rs762729313,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-7T>G,,c.5075-7T>G,splice_region_variant,not provided,867613,,1,832572,0.0000012010973225138486,0,0,,,12.6,,0.340,-0.470,0.792,,,0,15770,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761416,0,0,,,,,0,16450,0,0,0,27282,0,0 +17-43063960-T-A,17,43063960,rs80358059,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-9A>T,,c.5075-9A>T,intron_variant,Benign/Likely benign,125761,,5,780788,0.000006403786943446877,0,0,nfe,0.0000032400000000000003,7.83,,0.00,0.00,-0.869,,,0,59146,0,0,0,59000,0,0,0,24450,0,0,0,41240,0,0,0,63724,0,0,0,4464,0,0,4,418066,0,0,0,912,0,0,0,74604,0,0,1,35182,0,0 +17-43063960-T-C,17,43063960,rs80358059,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-9A>G,,c.5075-9A>G,intron_variant,Likely benign,240812,,2,628634,0.0000031815014778074364,0,0,eas,0.00000919,9.43,,0.00,0.00,-0.869,,,0,17694,0,0,0,43736,0,0,0,20978,0,0,2,36044,0,0,0,53118,0,0,0,4148,0,0,0,350048,0,0,,,,,0,69780,0,0,0,33088,0,0 +17-43063961-G-A,17,43063961,rs2051940421,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-10C>T,,c.5075-10C>T,intron_variant,not provided,864916,,3,832304,0.00000360445221938138,0,0,nfe,0.00000105,14.7,,0.00,0.00,2.35,,,0,15774,0,0,0,984,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,3,761166,0,0,,,,,0,16434,0,0,0,27280,0,0 +17-43063965-A-C,17,43063965,rs1363650349,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-14T>G,,c.5075-14T>G,intron_variant,Likely benign,1548084,,2,628606,0.0000031816431914426525,1,0,sas,0.00000476,10.5,,0.0200,-0.0800,1.83,,,0,17694,0,0,0,43736,0,0,0,20972,0,0,0,36044,0,0,0,53122,0,0,0,4148,0,0,0,350030,0,0,,,,,2,69774,1,0,0,33086,0,0 +17-43063967-C-T,17,43063967,rs2153610661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-16G>A,,c.5075-16G>A,intron_variant,,,,1,628550,0.0000015909633282952827,0,0,,,8.27,,0.00,-0.0100,0.984,,,0,17692,0,0,0,43732,0,0,0,20964,0,0,0,36042,0,0,0,53112,0,0,0,4148,0,0,0,350004,0,0,,,,,1,69772,0,0,0,33084,0,0 +17-43063968-A-T,17,43063968,rs1255322495,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-17T>A,,c.5075-17T>A,intron_variant,,,,1,628528,0.0000015910190158592776,0,0,,,20.2,,0.490,-0.600,3.46,,,0,17692,0,0,0,43730,0,0,0,20968,0,0,1,36044,0,0,0,53108,0,0,0,4148,0,0,0,349980,0,0,,,,,0,69770,0,0,0,33088,0,0 +17-43063969-C-T,17,43063969,rs1060504564,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-18G>A,,c.5075-18G>A,intron_variant,Conflicting interpretations of pathogenicity,415565,,5,1612120,0.0000031015060913579634,0,0,afr,0.00001747,0.381,,0.00,0.00,-0.387,,,4,74890,0,0,0,59978,0,0,0,29582,0,0,0,44846,0,0,0,63992,0,0,0,6084,0,0,0,1178402,0,0,0,912,0,0,1,91018,0,0,0,62416,0,0 +17-43063970-T-A,17,43063970,rs1555578694,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-19A>T,,c.5075-19A>T,intron_variant,,,,1,831108,0.0000012032130601558402,0,0,,,0.939,,0.00,0.00,-0.0130,,,0,15744,0,0,0,982,0,0,0,5140,0,0,0,3610,0,0,0,276,0,0,0,1620,0,0,1,760068,0,0,,,,,0,16424,0,0,0,27244,0,0 +17-43063971-C-CA,17,43063971,,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-21dup,,c.5075-21dup,intron_variant,,,,1,1459438,6.851952600932688e-7,0,0,,,4.29,,0.0700,-0.0800,0.0270,,,0,33436,0,0,0,44708,0,0,0,26100,0,0,0,39646,0,0,0,53368,0,0,0,5768,0,0,1,1109930,0,0,,,,,0,86160,0,0,0,60322,0,0 +17-43063971-C-T,17,43063971,rs2153610878,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-20G>A,,c.5075-20G>A,intron_variant,Likely benign,1584081,,2,1459438,0.0000013703905201865376,0,0,sas,0.00000385,5.15,,0.0500,0.0500,0.0270,,,0,33436,0,0,0,44708,0,0,0,26100,0,0,0,39646,0,0,0,53368,0,0,0,5768,0,0,0,1109930,0,0,,,,,2,86160,0,0,0,60322,0,0 +17-43063974-AG-A,17,43063974,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-24del,,c.5075-24del,intron_variant,,,,1,1458490,6.856406283210718e-7,0,0,,,4.57,,0.00,0.0100,2.70,,,0,33414,0,0,0,44708,0,0,0,26094,0,0,0,39646,0,0,0,53366,0,0,0,5766,0,0,1,1109064,0,0,,,,,0,86154,0,0,0,60278,0,0 +17-43063974-A-C,17,43063974,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-23T>G,,c.5075-23T>G,intron_variant,,,,2,1458490,0.0000013712812566421436,0,0,nfe,2.999999999999999e-7,12.1,,0.00,-0.0300,2.70,,,0,33414,0,0,0,44708,0,0,0,26094,0,0,0,39646,0,0,0,53366,0,0,0,5766,0,0,2,1109064,0,0,,,,,0,86154,0,0,0,60278,0,0 +17-43063975-G-A,17,43063975,rs1029023839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-24C>T,,c.5075-24C>T,intron_variant,,,,2,982082,0.000002036489824678591,0,0,,,6.80,,0.00,0.00,0.166,,,1,57132,0,0,1,16228,0,0,0,8608,0,0,0,8804,0,0,0,10884,0,0,0,1930,0,0,0,827096,0,0,0,910,0,0,0,21224,0,0,0,29266,0,0 +17-43063976-G-A,17,43063976,rs2153611056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-25C>T,,c.5075-25C>T,intron_variant,,,,1,1457588,6.860649236958592e-7,0,0,,,12.3,,0.00,0.00,2.69,,,0,33396,0,0,0,44698,0,0,0,26086,0,0,0,39640,0,0,0,53358,0,0,0,5760,0,0,1,1108272,0,0,,,,,0,86132,0,0,0,60246,0,0 +17-43063978-T-G,17,43063978,rs750770955,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-27A>C,,c.5075-27A>C,intron_variant,,,,10,780378,0.000012814302812226895,0,0,,,21.2,,0.280,-0.390,2.19,,,0,59126,0,0,0,58972,0,0,0,24430,0,0,0,41218,0,0,9,63702,0,0,0,4462,0,0,0,417836,0,0,0,912,0,0,0,74560,0,0,1,35160,0,0 +17-43063978-T-C,17,43063978,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-27A>G,,c.5075-27A>G,intron_variant,,,,1,628228,0.0000015917787809521384,0,0,,,22.5,,0.360,-0.540,2.19,,,0,17692,0,0,0,43706,0,0,0,20958,0,0,1,36028,0,0,0,53082,0,0,0,4148,0,0,0,349812,0,0,,,,,0,69734,0,0,0,33068,0,0 +17-43063983-A-G,17,43063983,rs761163190,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-32T>C,,c.5075-32T>C,intron_variant,,,,3,627850,0.000004778211356215657,0,0,,,15.5,,0.0100,0.0100,0.877,,,0,17686,0,0,0,43666,0,0,0,20948,0,0,0,36024,0,0,0,53044,0,0,3,4148,0,0,0,349584,0,0,,,,,0,69690,0,0,0,33060,0,0 +17-43063984-GT-G,17,43063984,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-34del,,c.5075-34del,intron_variant,,,,1,1449556,6.898664142675413e-7,0,0,,,1.17,,0.0300,-0.0200,-0.0640,,,0,33204,0,0,0,44626,0,0,0,26034,0,0,1,39602,0,0,0,53302,0,0,0,5750,0,0,0,1101178,0,0,,,,,0,85920,0,0,0,59940,0,0 +17-43063985-T-C,17,43063985,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-34A>G,,c.5075-34A>G,intron_variant,,,,2,1449780,0.000001379519651257432,0,0,nfe,2.999999999999999e-7,5.31,,0.0100,0.0200,-1.76,,,0,33184,0,0,0,44618,0,0,0,26030,0,0,0,39602,0,0,0,53316,0,0,0,5748,0,0,2,1101454,0,0,,,,,0,85892,0,0,0,59936,0,0 +17-43063986-T-G,17,43063986,rs754413406,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-35A>C,,c.5075-35A>C,intron_variant,,,,31,1600282,0.000019371585758010152,1,0,sas,0.00023804,9.07,,0.0100,-0.0100,-0.0370,,,0,74592,0,0,0,59888,0,0,0,29496,0,0,0,44796,0,0,0,63934,0,0,0,6066,0,0,0,1167956,0,0,0,912,0,0,30,90666,1,0,1,61976,0,0 +17-43063987-GA-G,17,43063987,rs779688885,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-37del,,c.5075-37del,intron_variant,,,,2,1444880,0.0000013841979956813023,0,0,sas,0.00000387,10.4,,0.0200,0.0100,2.08,,,0,33084,0,0,0,44592,0,0,0,26008,0,0,0,39566,0,0,0,53290,0,0,0,5744,0,0,0,1097072,0,0,,,,,2,85748,0,0,0,59776,0,0 +17-43063993-A-G,17,43063993,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-42T>C,,c.5075-42T>C,intron_variant,,,,1,626164,0.0000015970256993375537,0,0,,,6.49,,0.0100,-0.0100,0.723,,,1,17654,0,0,0,43492,0,0,0,20906,0,0,0,35966,0,0,0,52954,0,0,0,4148,0,0,0,348634,0,0,,,,,0,69446,0,0,0,32964,0,0 +17-43063994-A-T,17,43063994,rs754999111,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-43T>A,,c.5075-43T>A,intron_variant,Likely benign,2576272,,2,778474,0.0000025691288341036437,0,0,,,0.774,,0.00,-0.0100,-0.664,,,0,59108,0,0,0,58770,0,0,0,24374,0,0,0,41174,0,0,0,63574,0,0,0,4464,0,0,2,416714,0,0,0,912,0,0,0,74312,0,0,0,35072,0,0 +17-43063997-T-G,17,43063997,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-46A>C,,c.5075-46A>C,intron_variant,,,,1,1408106,7.101738079377547e-7,0,0,,,8.58,,0.00,0.00,0.228,,,0,32280,0,0,0,44290,0,0,0,25714,0,0,0,39356,0,0,0,53158,0,0,0,5680,0,0,0,1064338,0,0,,,,,0,84758,0,0,1,58532,0,0 +17-43063999-A-C,17,43063999,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-48T>G,,c.5075-48T>G,intron_variant,,,,2,624642,0.0000032018340105212267,0,0,amr,0.00000766,10.4,,0.00,-0.0100,0.479,,,0,17606,0,0,2,43302,0,0,0,20856,0,0,0,35912,0,0,0,52866,0,0,0,4146,0,0,0,347778,0,0,,,,,0,69262,0,0,0,32914,0,0 +17-43064000-G-A,17,43064000,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-49C>T,,c.5075-49C>T,intron_variant,,,,2,771398,0.000002592695340148665,0,0,nfe,4.6999999999999995e-7,5.99,,0.00,0.00,1.21,,,0,14398,0,0,0,924,0,0,0,4780,0,0,0,3384,0,0,0,256,0,0,0,1510,0,0,2,705820,0,0,,,,,0,15176,0,0,0,25150,0,0 +17-43064004-G-A,17,43064004,rs8176258,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5075-53C>T,,c.5075-53C>T,intron_variant,Benign,125760,,35734,1533560,0.023301338063068937,535,0,nfe,0.02651417,4.37,,0.00,0.00,1.24,,,286,73270,1,0,862,59158,6,0,547,29008,6,0,4,44326,0,0,2067,63562,41,0,12,5920,0,0,29686,1108940,433,0,26,912,0,0,1014,88734,26,0,1230,59730,22,0 +17-43064004-G-T,17,43064004,rs8176258,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-53C>A,,c.5075-53C>A,intron_variant,,,,1,1381490,7.238561263563254e-7,0,0,,,3.79,,0.00,0.00,1.24,,,0,31714,0,0,0,43876,0,0,0,25540,0,0,0,39142,0,0,0,52950,0,0,0,5626,0,0,1,1041120,0,0,,,,,0,83900,0,0,0,57622,0,0 +17-43064005-T-C,17,43064005,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-54A>G,,c.5075-54A>G,intron_variant,,,,2,1377026,0.000001452405401205206,0,0,nfe,3.200000000000001e-7,7.46,,0.00,0.00,-0.0870,,,0,31690,0,0,0,43764,0,0,0,25504,0,0,0,39132,0,0,0,52942,0,0,0,5618,0,0,2,1037172,0,0,,,,,0,83740,0,0,0,57464,0,0 +17-43064006-GCT-G,17,43064006,,GCT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-57_5075-56del,,c.5075-57_5075-56del,intron_variant,,,,1,1361990,7.342197813493491e-7,0,0,,,7.36,,0.0100,-0.0100,0.0280,,,0,31354,0,0,0,43578,0,0,0,25412,0,0,1,39006,0,0,0,52848,0,0,0,5594,0,0,0,1023948,0,0,,,,,0,83336,0,0,0,56914,0,0 +17-43064007-C-G,17,43064007,rs2051943587,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-56G>C,,c.5075-56G>C,intron_variant,,,,1,1362058,7.341831258287092e-7,0,0,,,5.98,,0.00,-0.0200,0.698,,,0,31320,0,0,1,43554,0,0,0,25416,0,0,0,38966,0,0,0,52808,0,0,0,5590,0,0,0,1024206,0,0,,,,,0,83282,0,0,0,56916,0,0 +17-43064007-C-T,17,43064007,rs2051943587,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-56G>A,,c.5075-56G>A,intron_variant,,,,1,1362056,7.341842038800167e-7,0,0,,,6.44,,0.00,-0.0100,0.698,,,1,31320,0,0,0,43554,0,0,0,25416,0,0,0,38966,0,0,0,52808,0,0,0,5590,0,0,0,1024204,0,0,,,,,0,83282,0,0,0,56916,0,0 +17-43064009-G-C,17,43064009,rs2051943729,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-58C>G,,c.5075-58C>G,intron_variant,,,,3,1339522,0.0000022396048739774336,0,0,eas,0.00002051,6.25,,0.00,0.00,0.416,,,0,30890,0,0,0,43134,0,0,0,25260,0,0,3,38776,0,0,0,52714,0,0,0,5540,0,0,0,1004336,0,0,,,,,0,82676,0,0,0,56196,0,0 +17-43064011-C-T,17,43064011,rs2153612407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-60G>A,,c.5075-60G>A,intron_variant,,,,1,711934,0.0000014046245859869033,0,0,,,2.61,,0.00,0.00,0.122,,,0,13250,0,0,0,852,0,0,0,4450,0,0,0,3094,0,0,0,250,0,0,0,1394,0,0,1,651396,0,0,,,,,0,14012,0,0,0,23236,0,0 +17-43064015-A-G,17,43064015,rs931213543,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-64T>C,,c.5075-64T>C,intron_variant,,,,1,1268330,7.884383401796062e-7,0,0,,,7.38,,0.00,-0.0200,-0.116,,,0,29332,0,0,0,41928,0,0,0,24738,0,0,0,38168,0,0,0,52286,0,0,0,5418,0,0,1,941964,0,0,,,,,0,80728,0,0,0,53768,0,0 +17-43064018-A-G,17,43064018,rs1567769677,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-67T>C,,c.5075-67T>C,intron_variant,Likely benign,628133,,1,1237304,8.082088152951902e-7,0,0,,,13.0,,0.00,-0.0100,0.153,,,0,28678,0,0,0,41520,0,0,0,24514,0,0,0,37912,0,0,0,52124,0,0,0,5372,0,0,1,914498,0,0,,,,,0,79926,0,0,0,52760,0,0 +17-43064021-T-A,17,43064021,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-70A>T,,c.5075-70A>T,intron_variant,,,,1,613290,0.000001630549984509775,0,0,,,8.67,,0.0100,-0.0200,0.204,,,0,11260,0,0,0,712,0,0,0,3786,0,0,0,2638,0,0,0,224,0,0,0,1200,0,0,1,561392,0,0,,,,,0,12116,0,0,0,19962,0,0 +17-43064025-G-A,17,43064025,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5075-74C>T,,c.5075-74C>T,intron_variant,,,,2,602224,0.0000033210234065729695,0,0,nfe,9.9e-7,3.05,,0.00,0.00,-0.410,,,0,16932,0,0,0,39594,0,0,0,20564,0,0,0,34826,0,0,0,51462,0,0,0,4112,0,0,2,335858,0,0,,,,,0,66858,0,0,0,32018,0,0 +17-43067533-C-A,17,43067533,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+75G>T,,c.5074+75G>T,intron_variant,,,,1,1080658,9.253621404736743e-7,0,0,,,1.56,,0.00,-0.0100,0.340,,,0,25622,0,0,0,42722,0,0,0,23386,0,0,0,36984,0,0,0,51386,0,0,0,5020,0,0,1,770504,0,0,,,,,0,77674,0,0,0,47360,0,0 +17-43067534-A-T,17,43067534,rs1434924562,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+74T>A,,c.5074+74T>A,intron_variant,,,,1,1097194,9.114158480633325e-7,0,0,,,0.697,,0.00,-0.0200,-0.611,,,0,25988,0,0,0,42898,0,0,0,23486,0,0,0,37164,0,0,0,51480,0,0,0,5028,0,0,1,785182,0,0,,,,,0,78034,0,0,0,47934,0,0 +17-43067534-A-C,17,43067534,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+74T>G,,c.5074+74T>G,intron_variant,,,,2,1097196,0.0000018228283734173292,0,0,sas,0.00000425,0.786,,0.00,-0.0100,-0.611,,,0,25988,0,0,0,42898,0,0,0,23486,0,0,0,37164,0,0,0,51482,0,0,0,5028,0,0,0,785182,0,0,,,,,2,78034,0,0,0,47934,0,0 +17-43067535-T-G,17,43067535,rs987865924,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+73A>C,,c.5074+73A>C,intron_variant,,,,3,1260564,0.0000023798870981560636,0,0,afr,0.00001177,5.63,,0.00,-0.0200,0.272,,,3,67690,0,0,0,58446,0,0,0,27160,0,0,0,42564,0,0,0,62328,0,0,0,5380,0,0,0,862380,0,0,0,910,0,0,0,83168,0,0,0,50538,0,0 +17-43067536-G-A,17,43067536,rs2052148844,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+72C>T,,c.5074+72C>T,intron_variant,,,,2,1281162,0.0000015610828294938501,0,0,,,3.03,,0.00,-0.0200,0.337,,,0,68072,0,0,1,58536,0,0,0,27332,0,0,0,42676,0,0,0,62354,0,0,0,5410,0,0,1,881096,0,0,0,910,0,0,0,83452,0,0,0,51324,0,0 +17-43067536-GCGCCACCGTGCCT-G,17,43067536,rs1424905902,GCGCCACCGTGCCT,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5074+59_5074+71del,,c.5074+59_5074+71del,intron_variant,,,,1,152116,0.000006573930421520419,0,0,afr,0.000019710000000000003,1.27,,0.00,0.0100,0.337,,,1,41426,0,0,0,15276,0,0,0,3468,0,0,0,5178,0,0,0,10596,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 +17-43067537-C-T,17,43067537,rs761108258,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+71G>A,,c.5074+71G>A,intron_variant,,,,114,1270610,0.00008972068534011223,0,0,amr,0.00011893999999999997,0.532,,0.00,0.00,-0.682,,,2,67464,0,0,12,57988,0,0,0,27074,0,0,5,42314,0,0,7,61876,0,0,0,5386,0,0,86,873640,0,0,0,906,0,0,0,83186,0,0,2,50776,0,0 +17-43067538-G-T,17,43067538,rs778065395,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+70C>A,,c.5074+70C>A,intron_variant,,,,2,1142866,0.0000017499864376051085,0,0,nfe,4e-7,0.450,,0.00,-0.0400,-0.561,,,0,26940,0,0,0,43430,0,0,0,23984,0,0,0,37606,0,0,0,51872,0,0,0,5134,0,0,2,825154,0,0,,,,,0,79136,0,0,0,49610,0,0 +17-43067538-G-A,17,43067538,rs778065395,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+70C>T,,c.5074+70C>T,intron_variant,,,,122,1294970,0.00009421067669521302,0,0,nfe,0.00010333,0.574,,0.00,0.00,-0.561,,,1,68364,0,0,3,58686,0,0,0,27452,0,0,0,42778,0,0,2,62474,0,0,0,5450,0,0,109,893190,0,0,0,910,0,0,1,83962,0,0,6,51704,0,0 +17-43067539-C-T,17,43067539,rs933151704,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+69G>A,,c.5074+69G>A,intron_variant,,,,10,1311666,0.000007623892057886688,0,0,afr,0.00007840999999999999,3.56,,0.00,-0.0200,0.340,,,10,68654,0,0,0,58872,0,0,0,27626,0,0,0,42952,0,0,0,62730,0,0,0,5492,0,0,0,907666,0,0,0,910,0,0,0,84412,0,0,0,52352,0,0 +17-43067540-C-T,17,43067540,rs2153691311,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+68G>A,,c.5074+68G>A,intron_variant,,,,2,1173316,0.0000017045706357025728,0,0,nfe,3.900000000000001e-7,3.79,,0.00,0.00,0.340,,,0,27558,0,0,0,43704,0,0,0,24240,0,0,0,37902,0,0,0,52218,0,0,0,5206,0,0,2,851908,0,0,,,,,0,79878,0,0,0,50702,0,0 +17-43067542-C-G,17,43067542,rs2052149680,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+66G>C,,c.5074+66G>C,intron_variant,,,,2,578590,0.000003456679168322992,0,0,afr,0.00003301999999999999,3.17,,0.00,-0.0100,0.340,,,2,10626,0,0,0,642,0,0,0,3682,0,0,0,2356,0,0,0,194,0,0,0,1126,0,0,0,529664,0,0,,,,,0,11316,0,0,0,18984,0,0 +17-43067543-C-T,17,43067543,rs8176235,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+65G>A,,c.5074+65G>A,intron_variant,Benign,127126,,364798,1362902,0.2676626786078529,51570,0,sas,0.45854417999999975,3.77,,0.00,-0.0100,0.340,,,11618,69776,983,0,16273,58832,2248,0,7404,27932,954,0,15346,43192,2767,0,19363,62640,3010,0,1648,5576,255,0,238800,954462,29907,0,217,910,25,0,39591,85628,9466,0,14538,53954,1955,0 +17-43067544-G-A,17,43067544,rs2153691460,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+64C>T,,c.5074+64C>T,intron_variant,,,,9,1225238,0.000007345511647532969,0,0,nfe,0.0000032400000000000003,1.07,,0.00,0.00,-0.655,,,0,28586,0,0,1,43986,0,0,0,24554,0,0,0,38204,0,0,0,52420,0,0,0,5318,0,0,7,898674,0,0,,,,,1,81184,0,0,0,52312,0,0 +17-43067546-G-T,17,43067546,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+62C>A,,c.5074+62C>A,intron_variant,,,,1,1231504,8.12015226909535e-7,0,0,,,0.677,,0.00,-0.0400,0.337,,,0,28762,0,0,0,44076,0,0,0,24624,0,0,0,38296,0,0,0,52550,0,0,0,5326,0,0,1,903852,0,0,,,,,0,81392,0,0,0,52626,0,0 +17-43067547-C-T,17,43067547,rs2153691555,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+61G>A,,c.5074+61G>A,intron_variant,,,,1,1252196,7.985970247469246e-7,0,0,,,3.39,,0.00,-0.0200,0.340,,,0,29174,0,0,0,44082,0,0,0,24780,0,0,0,38366,0,0,0,52566,0,0,0,5348,0,0,1,922914,0,0,,,,,0,81720,0,0,0,53246,0,0 +17-43067548-C-T,17,43067548,rs2153691617,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+60G>A,,c.5074+60G>A,intron_variant,,,,1,1262404,7.921394418902348e-7,0,0,,,3.53,,0.00,-0.0300,0.340,,,0,29332,0,0,0,44156,0,0,0,24826,0,0,0,38478,0,0,0,52716,0,0,0,5374,0,0,1,932040,0,0,,,,,0,81880,0,0,0,53602,0,0 +17-43067550-C-T,17,43067550,rs969799016,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+58G>A,,c.5074+58G>A,intron_variant,,,,48,1418070,0.00003384882269563562,0,0,eas,0.0003030100000000001,0.636,,0.00,-0.0100,-0.588,,,0,70796,0,0,14,59442,0,0,0,28326,0,0,20,43630,0,0,0,63342,0,0,0,5694,0,0,9,1003316,0,0,0,910,0,0,2,86790,0,0,3,55824,0,0 +17-43067551-G-A,17,43067551,rs564362551,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+57C>T,,c.5074+57C>T,intron_variant,Benign,2075140,,65,1433200,0.0000453530560982417,0,0,eas,0.0008302300000000002,6.28,,0.740,0.640,-0.561,,,3,71312,0,0,1,59540,0,0,0,28444,0,0,47,43742,0,0,0,63304,0,0,0,5708,0,0,6,1016748,0,0,0,910,0,0,0,87136,0,0,8,56356,0,0 +17-43067552-C-T,17,43067552,rs2153691816,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+56G>A,,c.5074+56G>A,intron_variant,,,,1,1291498,7.742946562828592e-7,0,0,,,2.74,,0.00,-0.0300,-0.549,,,0,29970,0,0,0,44334,0,0,0,25036,0,0,0,38674,0,0,0,52892,0,0,1,5426,0,0,0,958030,0,0,,,,,0,82550,0,0,0,54586,0,0 +17-43067553-C-T,17,43067553,rs2153691872,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+55G>A,,c.5074+55G>A,intron_variant,,,,2,1305678,0.0000015317712330298895,0,0,nfe,3.399999999999999e-7,2.45,,0.00,-0.0400,0.340,,,0,30294,0,0,0,44396,0,0,0,25112,0,0,0,38728,0,0,0,52996,0,0,0,5454,0,0,2,970814,0,0,,,,,0,82804,0,0,0,55080,0,0 +17-43067555-C-G,17,43067555,rs2153691955,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+53G>C,,c.5074+53G>C,intron_variant,,,,1,1314722,7.606170734193236e-7,0,0,,,2.94,,0.00,-0.0300,0.340,,,0,30480,0,0,0,44418,0,0,0,25164,0,0,0,38788,0,0,0,53046,0,0,0,5482,0,0,1,978878,0,0,,,,,0,83050,0,0,0,55416,0,0 +17-43067555-CAT-C,17,43067555,rs1212800520,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+51_5074+52del,,c.5074+51_5074+52del,intron_variant,,,,31,1466726,0.00002113550860896991,0,0,nfe,0.00001943,4.31,,0.00,-0.0700,0.340,,,1,71864,0,0,0,59672,0,0,0,28632,0,0,0,43966,0,0,0,63634,0,0,0,5798,0,0,29,1046868,0,0,0,908,0,0,1,87876,0,0,0,57508,0,0 +17-43067555-C-A,17,43067555,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+53G>T,,c.5074+53G>T,intron_variant,,,,1,1314720,7.606182304977486e-7,0,0,,,2.75,,0.00,0.00,0.340,,,0,30480,0,0,0,44418,0,0,0,25164,0,0,0,38788,0,0,0,53046,0,0,0,5482,0,0,0,978876,0,0,,,,,1,83050,0,0,0,55416,0,0 +17-43067556-A-G,17,43067556,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+52T>C,,c.5074+52T>C,intron_variant,,,,2,1315592,0.0000015202281558416287,0,0,nfe,3.399999999999999e-7,7.70,,0.00,-0.0300,0.271,,,0,30490,0,0,0,44414,0,0,0,25176,0,0,0,38796,0,0,0,53032,0,0,0,5476,0,0,2,979622,0,0,,,,,0,83102,0,0,0,55484,0,0 +17-43067557-T-G,17,43067557,rs2052150412,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+51A>C,,c.5074+51A>C,intron_variant,,,,4,1313954,0.000003044246602240261,0,0,nfe,8.2e-7,5.60,,0.0100,0.0100,0.272,,,0,30446,0,0,0,44402,0,0,0,25130,0,0,1,38740,0,0,0,53000,0,0,0,5462,0,0,3,978222,0,0,,,,,0,83104,0,0,0,55448,0,0 +17-43067558-G-T,17,43067558,rs1435440890,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+50C>A,,c.5074+50C>A,intron_variant,,,,2,1328454,0.0000015055094116920873,0,0,afr,0.00001078,0.788,,0.00,0.00,-0.557,,,2,30732,0,0,0,44444,0,0,0,25264,0,0,0,38872,0,0,0,53068,0,0,0,5490,0,0,0,991276,0,0,,,,,0,83384,0,0,0,55924,0,0 +17-43067558-G-A,17,43067558,rs1435440890,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+50C>T,,c.5074+50C>T,intron_variant,,,,1,1328460,7.52751306023516e-7,0,0,,,0.995,,0.00,0.00,-0.557,,,0,30732,0,0,1,44444,0,0,0,25264,0,0,0,38872,0,0,0,53068,0,0,0,5490,0,0,0,991282,0,0,,,,,0,83384,0,0,0,55924,0,0 +17-43067559-T-TG,17,43067559,rs1567771848,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+48dup,,c.5074+48dup,intron_variant,,,,1,1336326,7.48320394873706e-7,0,0,,,2.22,,0.00,-0.0200,0.272,,,0,30876,0,0,1,44472,0,0,0,25308,0,0,0,38928,0,0,0,53108,0,0,0,5510,0,0,0,998444,0,0,,,,,0,83540,0,0,0,56140,0,0 +17-43067559-TG-T,17,43067559,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+48del,,c.5074+48del,intron_variant,,,,1,1336320,7.483237547892721e-7,0,0,,,0.207,,0.00,-0.0200,0.272,,,0,30874,0,0,0,44472,0,0,0,25308,0,0,0,38928,0,0,0,53108,0,0,0,5510,0,0,1,998440,0,0,,,,,0,83540,0,0,0,56140,0,0 +17-43067561-G-A,17,43067561,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+47C>T,,c.5074+47C>T,intron_variant,,,,1,1357516,7.366395681524196e-7,0,0,,,2.89,,0.00,0.00,0.346,,,0,31266,0,0,0,44506,0,0,0,25464,0,0,0,39052,0,0,0,53086,0,0,0,5578,0,0,1,1017700,0,0,,,,,0,83984,0,0,0,56880,0,0 +17-43067565-T-C,17,43067565,rs2052150842,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+43A>G,,c.5074+43A>G,intron_variant,,,,3,1370246,0.000002189387890933453,0,0,eas,0.00002034,5.76,,0.0200,-0.0500,1.06,,,0,31536,0,0,0,44544,0,0,0,25546,0,0,3,39096,0,0,0,53212,0,0,0,5606,0,0,0,1029100,0,0,,,,,0,84280,0,0,0,57326,0,0 +17-43067567-T-C,17,43067567,rs2052151107,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+41A>G,,c.5074+41A>G,intron_variant,,,,9,897548,0.000010027318873196754,0,0,nfe,0.00000459,3.73,,0.0200,-0.0100,-1.45,,,0,55386,0,0,0,16140,0,0,0,8090,0,0,0,8318,0,0,1,10874,0,0,0,1784,0,0,8,750100,0,0,0,910,0,0,0,19444,0,0,0,26502,0,0 +17-43067568-G-A,17,43067568,rs1323457884,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+40C>T,,c.5074+40C>T,intron_variant,,,,5,1522708,0.000003283623649445593,0,0,nfe,0.0000013299999999999998,0.243,,0.00,0.00,-0.945,,,0,72926,0,0,0,59794,0,0,0,29018,0,0,0,44298,0,0,0,63760,0,0,0,5924,0,0,5,1097546,0,0,0,910,0,0,0,89140,0,0,0,59392,0,0 +17-43067569-C-T,17,43067569,rs1200270723,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+39G>A,,c.5074+39G>A,intron_variant,,,,3,1376692,0.0000021791366551123997,0,0,amr,0.000007440000000000001,3.79,,0.0100,-0.0100,-1.56,,,0,31656,0,0,2,44536,0,0,0,25580,0,0,0,39136,0,0,0,53190,0,0,0,5616,0,0,1,1035140,0,0,,,,,0,84376,0,0,0,57462,0,0 +17-43067572-C-A,17,43067572,rs2153692791,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+36G>T,,c.5074+36G>T,intron_variant,,,,1,1384198,7.224399977459872e-7,0,0,,,1.61,,0.00,0.00,-0.0620,,,0,31800,0,0,0,44572,0,0,0,25644,0,0,0,39206,0,0,0,53242,0,0,0,5640,0,0,1,1041750,0,0,,,,,0,84592,0,0,0,57752,0,0 +17-43067574-G-T,17,43067574,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+34C>A,,c.5074+34C>A,intron_variant,,,,1,1393704,7.17512470366735e-7,0,0,,,3.05,,0.00,0.00,0.917,,,0,32026,0,0,0,44594,0,0,1,25698,0,0,0,39276,0,0,0,53278,0,0,0,5660,0,0,0,1050394,0,0,,,,,0,84762,0,0,0,58016,0,0 +17-43067579-A-G,17,43067579,rs778992032,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+29T>C,,c.5074+29T>C,intron_variant,Likely benign,1697600,,10,1549222,0.000006454852822900785,0,0,amr,0.00001329,9.70,,0.0700,-0.0500,0.615,,,0,73476,0,0,3,59890,0,0,0,29206,0,0,0,44520,0,0,0,63932,0,0,0,5982,0,0,7,1121402,0,0,0,908,0,0,0,89634,0,0,0,60272,0,0 +17-43067581-G-T,17,43067581,rs758630283,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+27C>A,,c.5074+27C>A,intron_variant,,,,2,1406520,0.0000014219492079742912,0,0,amr,0.000007430000000000001,0.473,,0.00,-0.0200,0.252,,,0,32244,0,0,2,44630,0,0,0,25792,0,0,0,39372,0,0,0,53314,0,0,0,5672,0,0,0,1062000,0,0,,,,,0,85024,0,0,0,58472,0,0 +17-43067581-G-A,17,43067581,rs758630283,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+27C>T,,c.5074+27C>T,intron_variant,,,,1,1406520,7.109746039871456e-7,0,0,,,0.602,,0.00,0.00,0.252,,,0,32244,0,0,0,44630,0,0,0,25792,0,0,0,39372,0,0,0,53314,0,0,0,5672,0,0,1,1062000,0,0,,,,,0,85024,0,0,0,58472,0,0 +17-43067582-G-T,17,43067582,rs2052152396,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+26C>A,,c.5074+26C>A,intron_variant,,,,2,1408498,0.0000014199523180011615,0,0,nfe,3.1e-7,1.85,,0.0200,-0.0100,-0.625,,,0,32324,0,0,0,44650,0,0,0,25796,0,0,0,39406,0,0,0,53330,0,0,0,5680,0,0,2,1063700,0,0,,,,,0,85046,0,0,0,58566,0,0 +17-43067582-G-A,17,43067582,rs2052152396,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+26C>T,,c.5074+26C>T,intron_variant,,,,5,1408500,0.0000035498757543485977,0,0,nfe,0.0000013800000000000001,1.87,,0.00,0.00,-0.625,,,0,32324,0,0,0,44650,0,0,0,25796,0,0,0,39406,0,0,0,53330,0,0,0,5680,0,0,5,1063702,0,0,,,,,0,85046,0,0,0,58566,0,0 +17-43067583-T-C,17,43067583,rs943281215,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.5074+25A>G,,c.5074+25A>G,intron_variant,,,,1,152084,0.000006575313642460746,0,0,,,3.71,,0.0200,-0.0200,0.242,,,0,41398,0,0,0,15268,0,0,0,3472,0,0,0,5186,0,0,0,10604,0,0,0,316,0,0,1,68010,0,0,0,910,0,0,0,4830,0,0,0,2090,0,0 +17-43067585-T-A,17,43067585,rs778115859,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+23A>T,,c.5074+23A>T,intron_variant,,,,1,1418634,7.049034493745392e-7,0,0,,,2.02,,0.00,0.00,0.0820,,,0,32526,0,0,0,44664,0,0,0,25866,0,0,1,39462,0,0,0,53352,0,0,0,5698,0,0,0,1072868,0,0,,,,,0,85290,0,0,0,58908,0,0 +17-43067585-T-C,17,43067585,rs778115859,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+23A>G,,c.5074+23A>G,intron_variant,Likely benign,371973,,38,1570724,0.00002419266529320237,1,0,amr,0.0002892500000000001,2.96,,0.0400,-0.0400,0.0820,,,0,73932,0,0,25,59932,0,0,3,29336,0,0,0,44648,0,0,0,63958,0,0,2,6014,1,0,7,1140882,0,0,0,910,0,0,0,90112,0,0,1,61000,0,0 +17-43067586-T-C,17,43067586,rs2153693435,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+22A>G,,c.5074+22A>G,intron_variant,,,,1,787574,0.0000012697219562860124,0,0,,,9.51,,0.0400,-0.0500,0.744,,,1,14784,0,0,0,940,0,0,0,4890,0,0,0,3422,0,0,0,266,0,0,0,1548,0,0,0,720514,0,0,,,,,0,15450,0,0,0,25760,0,0 +17-43067588-T-G,17,43067588,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+20A>C,,c.5074+20A>C,intron_variant,,,,3,1423190,0.000002107940612286483,0,0,nfe,3.1e-7,9.13,,0.0100,0.0100,0.729,,,0,32610,0,0,0,44684,0,0,0,25900,0,0,1,39508,0,0,0,53358,0,0,0,5702,0,0,2,1076992,0,0,,,,,0,85382,0,0,0,59054,0,0 +17-43067588-T-C,17,43067588,rs1597825487,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+20A>G,,c.5074+20A>G,intron_variant,Likely benign,761300,,1,1423190,7.02646870762161e-7,0,0,,,9.71,,0.0500,-0.0400,0.729,,,0,32610,0,0,0,44684,0,0,0,25900,0,0,0,39508,0,0,0,53358,0,0,0,5702,0,0,1,1076992,0,0,,,,,0,85382,0,0,0,59054,0,0 +17-43067589-G-T,17,43067589,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+19C>A,,c.5074+19C>A,intron_variant,,,,1,796610,0.0000012553194160254076,0,0,,,1.66,,0.0200,-0.0100,-0.245,,,0,14962,0,0,0,952,0,0,0,4942,0,0,0,3466,0,0,0,268,0,0,0,1560,0,0,1,728722,0,0,,,,,0,15658,0,0,0,26080,0,0 +17-43067592-A-G,17,43067592,rs746775027,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+16T>C,,c.5074+16T>C,intron_variant,Likely benign,462660,,4,628372,0.000006365656012680387,0,0,nfe,0.0000036699999999999996,11.5,,0.0500,-0.100,-0.309,,,0,17680,0,0,0,43734,0,0,0,20968,0,0,0,36044,0,0,0,53098,0,0,0,4146,0,0,4,349856,0,0,,,,,0,69790,0,0,0,33056,0,0 +17-43067594-G-T,17,43067594,rs370299792,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+14C>A,,c.5074+14C>A,intron_variant,,,,1,1435004,6.968621690253128e-7,0,0,,,4.45,,0.0100,-0.0300,1.21,,,0,32890,0,0,0,44684,0,0,1,25954,0,0,0,39572,0,0,0,53362,0,0,0,5728,0,0,0,1087692,0,0,,,,,0,85664,0,0,0,59458,0,0 +17-43067594-G-C,17,43067594,rs370299792,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+14C>G,,c.5074+14C>G,intron_variant,,,,1,1435008,6.968602265631968e-7,0,0,,,4.84,,0.0200,-0.0300,1.21,,,0,32890,0,0,0,44684,0,0,0,25954,0,0,1,39572,0,0,0,53362,0,0,0,5728,0,0,0,1087696,0,0,,,,,0,85664,0,0,0,59458,0,0 +17-43067594-G-A,17,43067594,rs370299792,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+14C>T,,c.5074+14C>T,intron_variant,Likely benign,136088,,14,1587094,0.000008821153630471792,0,0,nfe,0.00000703,4.84,,0.00,0.00,1.21,,,0,74306,0,0,0,59946,0,0,0,29426,0,0,0,44760,0,0,0,63950,0,0,0,6044,0,0,14,1155714,0,0,0,908,0,0,0,90490,0,0,0,61550,0,0 +17-43067595-G-C,17,43067595,rs2153693830,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+13C>G,,c.5074+13C>G,intron_variant,Likely benign,1996100,,2,1436500,0.000001392272885485555,0,0,,,8.53,,0.0400,-0.0700,1.22,,,0,32918,0,0,0,44694,0,0,0,25968,0,0,0,39574,0,0,0,53370,0,0,1,5724,0,0,1,1089058,0,0,,,,,0,85698,0,0,0,59496,0,0 +17-43067595-G-T,17,43067595,rs2153693830,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+13C>A,,c.5074+13C>A,intron_variant,,,,6,1436500,0.000004176818656456665,0,0,nfe,0.0000019800000000000005,6.72,,0.00,-0.0200,1.22,,,0,32918,0,0,0,44694,0,0,0,25968,0,0,0,39574,0,0,0,53370,0,0,0,5724,0,0,6,1089058,0,0,,,,,0,85698,0,0,0,59496,0,0 +17-43067598-C-G,17,43067598,rs780970459,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+10G>C,,c.5074+10G>C,intron_variant,Likely benign,868998,,1,1440590,6.941600316536975e-7,0,0,,,1.59,,0.00,0.00,0.330,,,0,33022,0,0,0,44700,0,0,0,26002,0,0,1,39582,0,0,0,53380,0,0,0,5732,0,0,0,1092708,0,0,,,,,0,85798,0,0,0,59666,0,0 +17-43067598-C-T,17,43067598,rs780970459,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+10G>A,,c.5074+10G>A,intron_variant,not provided,868997,,4,1440590,0.00000277664012661479,0,0,sas,0.00001588,1.92,,0.00,0.00,0.330,,,0,33022,0,0,0,44700,0,0,0,26002,0,0,0,39582,0,0,0,53380,0,0,0,5732,0,0,0,1092708,0,0,,,,,4,85798,0,0,0,59666,0,0 +17-43067599-T-C,17,43067599,rs2052153659,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+9A>G,,c.5074+9A>G,intron_variant,not provided,868995,,2,813492,0.000002458536777251651,0,0,nfe,4.4999999999999993e-7,10.6,,0.100,-0.0700,-0.921,,,0,15384,0,0,0,964,0,0,0,5032,0,0,0,3554,0,0,0,274,0,0,0,1592,0,0,2,744028,0,0,,,,,0,16048,0,0,0,26616,0,0 +17-43067601-G-T,17,43067601,rs1597825506,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+7C>A,,c.5074+7C>A,splice_region_variant,not provided,868600,,1,816028,0.0000012254481463871338,0,0,,,5.83,,0.00,0.00,1.65,,,0,15430,0,0,0,972,0,0,0,5044,0,0,0,3566,0,0,0,274,0,0,0,1596,0,0,1,746352,0,0,,,,,0,16136,0,0,0,26658,0,0 +17-43067602-G-C,17,43067602,rs80358032,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.5074+6C>G,,c.5074+6C>G,intron_variant,Benign,91636,,51,1600484,0.00003186536072837966,0,0,nfe,0.00002693,4.50,,0.00,0.00,1.12,,,3,74566,0,0,4,59976,0,0,0,29514,0,0,0,44802,0,0,0,63972,0,0,1,6062,0,0,42,1167848,0,0,0,912,0,0,0,90824,0,0,1,62008,0,0 +17-43067603-T-A,17,43067603,rs431825411,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+5A>T,,c.5074+5A>T,intron_variant,Likely benign,96938,,12,1448264,0.000008285782150215706,0,0,nfe,0.00000582,6.04,,0.0400,-0.0200,-2.06,,,0,33186,0,0,0,44712,0,0,0,26038,0,0,0,39632,0,0,0,53382,0,0,0,5744,0,0,12,1099674,0,0,,,,,0,86000,0,0,0,59896,0,0 +17-43067605-T-C,17,43067605,rs80358181,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+3A>G,,c.5074+3A>G,intron_variant,Pathogenic/Likely pathogenic,55375,,2,822626,0.00000243123849720286,0,0,nfe,4.4e-7,23.4,,0.710,-0.650,3.73,,,0,15558,0,0,0,978,0,0,0,5086,0,0,0,3590,0,0,0,276,0,0,0,1604,0,0,2,752338,0,0,,,,,0,16272,0,0,0,26924,0,0 +17-43067607-C-T,17,43067607,rs80358053,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.5074+1G>A,,c.5074+1G>A,splice_donor_variant,Pathogenic,37629,,3,628478,0.000004773436779012153,0,0,sas,0.00000476,32.0,,0.740,-0.700,8.86,,,0,17682,0,0,0,43734,0,0,0,20972,0,0,0,36042,0,0,1,53110,0,0,0,4148,0,0,0,349924,0,0,,,,,2,69790,0,0,0,33076,0,0 +17-43067608-C-G,17,43067608,rs80187739,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1692His,p.Asp1692His,c.5074G>C,missense_variant,Pathogenic,37633,,4,628514,0.000006364217821719166,0,0,,,35.0,0.815,0.740,-0.700,8.86,0.00,0.689,0,17688,0,0,1,43736,0,0,2,20974,0,0,0,36046,0,0,0,53108,0,0,0,4148,0,0,1,349944,0,0,,,,,0,69786,0,0,0,33084,0,0 +17-43067609-T-C,17,43067609,rs80356853,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691Thr,p.Thr1691Thr,c.5073A>G,splice_region_variant,Uncertain significance,55374,,1,1455088,6.872436581155229e-7,0,0,,,22.8,,0.710,-0.640,3.72,,,0,33346,0,0,0,44714,0,0,0,26084,0,0,0,39644,0,0,0,53394,0,0,0,5756,0,0,1,1105864,0,0,,,,,0,86130,0,0,0,60156,0,0 +17-43067610-G-GT,17,43067610,rs80357672,G,GT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691AsnfsTer4,p.Thr1691AsnfsTer4,c.5071dup,frameshift_variant,Pathogenic,55372,lof_flag,1,1456074,6.867782818730367e-7,0,0,,,33.0,,0.100,-0.0800,8.76,,,0,33354,0,0,0,44714,0,0,0,26092,0,0,0,39646,0,0,0,53390,0,0,0,5760,0,0,1,1106760,0,0,,,,,0,86160,0,0,0,60198,0,0 +17-43067611-T-C,17,43067611,rs397509219,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1691Ala,p.Thr1691Ala,c.5071A>G,missense_variant,Conflicting interpretations of pathogenicity,55371,,3,1456898,0.000002059169550648021,0,0,nfe,7.200000000000001e-7,23.4,0.747,0.0700,-0.110,6.33,0.00,0.315,0,33364,0,0,0,44718,0,0,0,26092,0,0,0,39648,0,0,0,53396,0,0,0,5760,0,0,3,1107534,0,0,,,,,0,86172,0,0,0,60214,0,0 +17-43067614-T-C,17,43067614,rs397507239,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1690Glu,p.Lys1690Glu,c.5068A>G,missense_variant,not provided,867593,,1,1457970,6.858851691049884e-7,0,0,,,23.9,0.665,0.00,0.00,6.33,0.00,0.00300,0,33394,0,0,0,44716,0,0,0,26100,0,0,0,39664,0,0,0,53398,0,0,0,5762,0,0,1,1108466,0,0,,,,,0,86200,0,0,0,60270,0,0 +17-43067614-T-A,17,43067614,rs397507239,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1690Ter,p.Lys1690Ter,c.5068A>T,stop_gained,Pathogenic,37626,lof_flag,2,1457970,0.0000013717703382099768,0,0,,,48.0,,0.440,-0.450,6.33,,,0,33394,0,0,0,44716,0,0,0,26100,0,0,0,39664,0,0,0,53398,0,0,0,5762,0,0,1,1108466,0,0,,,,,0,86200,0,0,1,60270,0,0 +17-43067614-T-G,17,43067614,rs397507239,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1690Gln,p.Lys1690Gln,c.5068A>C,missense_variant,Conflicting interpretations of pathogenicity,55370,,21,1610158,0.000013042198343268176,0,0,eas,0.00031322000000000007,25.8,0.720,0.110,-0.0700,6.33,0.00,0.0510,0,74834,0,0,0,59984,0,0,0,29572,0,0,21,44856,0,0,0,64020,0,0,0,6078,0,0,0,1176504,0,0,0,912,0,0,0,91034,0,0,0,62364,0,0 +17-43067616-A-G,17,43067616,rs80357061,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1689Thr,p.Met1689Thr,c.5066T>C,missense_variant,Uncertain significance,55369,,4,1458658,0.0000027422466404050846,0,0,nfe,7.200000000000001e-7,24.9,0.603,0.00,0.00,6.30,0.00,0.850,1,33408,0,0,0,44718,0,0,0,26106,0,0,0,39670,0,0,0,53400,0,0,0,5762,0,0,3,1109094,0,0,,,,,0,86216,0,0,0,60284,0,0 +17-43067617-TAAC-T,17,43067617,rs80358344,TAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1688del,p.Val1688del,c.5062_5064del,inframe_deletion,Pathogenic,55368,,1,152280,0.000006566850538481744,0,0,,,17.6,,0.00,0.0100,6.33,,,0,41544,0,0,0,15290,0,0,0,3472,0,0,0,5184,0,0,0,10618,0,0,0,294,0,0,1,68026,0,0,0,910,0,0,0,4832,0,0,0,2110,0,0 +17-43067618-A-G,17,43067618,rs1567771967,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1688Val,p.Val1688Val,c.5064T>C,synonymous_variant,Conflicting interpretations of pathogenicity,584945,,1,830536,0.0000012040417272701003,0,0,,,6.02,,0.00,0.00,0.341,,,0,15728,0,0,0,982,0,0,0,5130,0,0,0,3622,0,0,0,276,0,0,0,1616,0,0,1,759536,0,0,,,,,0,16426,0,0,0,27220,0,0 +17-43067622-A-G,17,43067622,rs1555579627,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1687Ala,p.Val1687Ala,c.5060T>C,missense_variant,not provided,868577,,1,628638,0.0000015907406170164705,0,0,,,25.2,0.856,0.00,0.00,6.30,0.00,0.431,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,0,350018,0,0,,,,,1,69794,0,0,0,33086,0,0 +17-43067622-A-C,17,43067622,rs1555579627,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1687Gly,p.Val1687Gly,c.5060T>G,missense_variant,Likely pathogenic,433721,,1,628638,0.0000015907406170164705,0,0,,,25.9,0.869,0.00,0.00,6.30,0.00,0.695,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,1,350018,0,0,,,,,0,69794,0,0,0,33086,0,0 +17-43067624-A-ATGAG,17,43067624,rs879254050,A,ATGAG,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1687SerfsTer9,p.Val1687SerfsTer9,c.5054_5057dup,frameshift_variant,Pathogenic,246021,lof_flag,1,152172,0.000006571511184712037,0,0,,,33.0,,0.400,-0.250,-0.313,,,1,41436,0,0,0,15272,0,0,0,3472,0,0,0,5190,0,0,0,10608,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43067625-T-C,17,43067625,rs730882166,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1686Arg,p.His1686Arg,c.5057A>G,missense_variant,Pathogenic/Likely pathogenic,183179,,2,831258,0.0000024059918821833893,0,0,nfe,4.4e-7,24.9,0.905,0.00,0.00,6.33,0.00,0.682,0,15744,0,0,0,982,0,0,0,5138,0,0,0,3620,0,0,0,276,0,0,0,1610,0,0,2,760210,0,0,,,,,0,16432,0,0,0,27246,0,0 +17-43067628-G-A,17,43067628,rs80357043,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1685Ile,p.Thr1685Ile,c.5054C>T,missense_variant,Pathogenic,55365,,3,983496,0.0000030503428585372998,0,0,nfe,4e-7,25.8,0.880,0.190,-0.150,8.76,0.00,0.274,0,57134,0,0,0,16244,0,0,0,8610,0,0,1,8824,0,0,0,10888,0,0,0,1930,0,0,2,828354,0,0,0,912,0,0,0,21266,0,0,0,29334,0,0 +17-43067630-A-C,17,43067630,rs760922019,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>G,synonymous_variant,Likely benign,743279,,2,1460130,0.0000013697410504544116,0,0,sas,0.00000385,7.89,,0.00,0.00,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53398,0,0,0,5760,0,0,0,1110432,0,0,,,,,2,86232,0,0,0,60334,0,0 +17-43067630-A-G,17,43067630,rs760922019,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>C,synonymous_variant,Likely benign,380856,,2,1460130,0.0000013697410504544116,0,0,,,8.16,,0.00,-0.0300,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,1,53398,0,0,0,5760,0,0,1,1110432,0,0,,,,,0,86232,0,0,0,60334,0,0 +17-43067630-A-T,17,43067630,rs760922019,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1684Thr,p.Thr1684Thr,c.5052T>A,synonymous_variant,Likely benign,631078,,6,1460130,0.000004109223151363235,0,0,nfe,0.00000194,7.76,,0.00,0.00,1.11,,,0,33444,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53398,0,0,0,5760,0,0,6,1110432,0,0,,,,,0,86232,0,0,0,60334,0,0 +17-43067640-G-A,17,43067640,rs766784305,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1681Ile,p.Thr1681Ile,c.5042C>T,missense_variant,Uncertain significance,188416,,4,1460942,0.0000027379594809376416,0,0,sas,0.00000385,22.3,0.581,0.110,-0.0400,7.00,0.00,0.0100,0,33464,0,0,0,44724,0,0,0,26128,0,0,0,39684,0,0,0,53402,0,0,0,5762,0,0,2,1111160,0,0,,,,,2,86242,0,0,0,60376,0,0 +17-43067643-A-G,17,43067643,rs1489545368,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1680Thr,p.Ile1680Thr,c.5039T>C,missense_variant,not provided,868554,,1,628700,0.0000015905837442341339,0,0,,,24.4,0.685,0.00,0.00,6.30,0.00,0.0210,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,1,350058,0,0,,,,,0,69796,0,0,0,33092,0,0 +17-43067645-T-C,17,43067645,rs754256578,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Leu,p.Leu1679Leu,c.5037A>G,synonymous_variant,Likely benign,427353,,6,628690,0.000009543654265218153,0,0,nfe,0.0000036699999999999996,2.96,,0.100,0.00,0.176,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,1,53128,0,0,0,4148,0,0,4,350050,0,0,,,,,0,69796,0,0,1,33094,0,0 +17-43067646-A-G,17,43067646,rs760038328,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Pro,p.Leu1679Pro,c.5036T>C,missense_variant,Conflicting interpretations of pathogenicity,216672,,1,1461218,6.843605813780011e-7,0,0,,,9.01,0.596,0.0900,0.00,-1.67,0.100,0.354,0,33464,0,0,1,44724,0,0,0,26130,0,0,0,39688,0,0,0,53406,0,0,0,5764,0,0,0,1111406,0,0,,,,,0,86250,0,0,0,60386,0,0 +17-43067646-AG-A,17,43067646,rs80357896,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Ter,p.Leu1679Ter,c.5035del,frameshift_variant,Pathogenic,55358,lof_flag,2,1461218,0.0000013687211627560021,0,0,sas,0.00000385,22.9,,0.380,-0.380,-1.67,,,0,33464,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53406,0,0,0,5764,0,0,0,1111406,0,0,,,,,2,86250,0,0,0,60386,0,0 +17-43067647-G-T,17,43067647,rs934248073,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1679Ile,p.Leu1679Ile,c.5035C>A,missense_variant,not provided,867557,,1,628692,0.0000015906039841448595,0,0,,,0.694,0.444,0.0900,-0.0600,-1.63,0.510,0.00,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36062,0,0,0,53126,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43067648-ATTAG-A,17,43067648,rs80357580,ATTAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1677IlefsTer2,p.Thr1677IlefsTer2,c.5030_5033del,frameshift_variant,Pathogenic,37623,lof_flag,2,984686,0.0000020311043317362085,0,0,,,26.5,,0.0600,0.0100,0.134,,,0,57198,0,0,0,16248,0,0,0,8618,0,0,0,8826,0,0,0,10866,0,0,0,1932,0,0,2,829436,0,0,0,910,0,0,0,21274,0,0,0,29378,0,0 +17-43067649-T-C,17,43067649,rs2052173415,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1678Ser,p.Asn1678Ser,c.5033A>G,missense_variant,not provided,865556,,1,832592,0.000001201068470511367,0,0,,,19.1,0.259,0.0500,-0.0300,1.42,0.180,0.00300,0,15774,0,0,0,984,0,0,1,5148,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,0,761418,0,0,,,,,0,16456,0,0,0,27292,0,0 +17-43067657-A-G,17,43067657,rs876658226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1675Thr,p.Thr1675Thr,c.5025T>C,synonymous_variant,Likely benign,229833,,2,628712,0.0000031811067706676506,0,0,,,3.55,,0.120,0.00,-0.0520,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,1,36062,0,0,0,53132,0,0,0,4148,0,0,0,350066,0,0,,,,,1,69796,0,0,0,33096,0,0 +17-43067658-G-A,17,43067658,rs150729791,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1675Ile,p.Thr1675Ile,c.5024C>T,missense_variant,Benign,240811,,20,1613464,0.000012395690266408176,0,0,nfe,0.00001107,14.9,0.475,0.0300,-0.0200,0.196,0.0300,0.0150,0,74862,0,0,0,59960,0,0,0,29600,0,0,0,44884,0,0,0,64000,0,0,0,6082,0,0,20,1179606,0,0,0,912,0,0,0,91080,0,0,0,62478,0,0 +17-43067659-T-C,17,43067659,rs774452090,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1675Ala,p.Thr1675Ala,c.5023A>G,missense_variant,Likely benign,482928,,2,780782,0.0000025615344616038794,0,0,,,0.377,0.539,0.00,0.00,-1.56,0.220,0.00,0,59094,0,0,1,58988,0,0,0,24450,0,0,1,41250,0,0,0,63728,0,0,0,4464,0,0,0,418084,0,0,0,910,0,0,0,74626,0,0,0,35188,0,0 +17-43067659-T-A,17,43067659,rs774452090,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1675Ser,p.Thr1675Ser,c.5023A>T,missense_variant,Conflicting interpretations of pathogenicity,825381,,1,628712,0.0000015905533853338253,0,0,,,0.365,0.501,0.0200,-0.0400,-1.56,0.0500,0.00,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43067660-G-A,17,43067660,rs786203868,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1674Ile,p.Ile1674Ile,c.5022C>T,synonymous_variant,Likely benign,187617,,23,1613452,0.000014255149827822581,0,0,afr,0.00010256999999999999,3.91,,0.120,-0.130,0.0610,,,13,74874,0,0,2,59956,0,0,0,29598,0,0,0,44878,0,0,0,63996,0,0,1,6080,0,0,4,1179598,0,0,0,912,0,0,0,91082,0,0,3,62478,0,0 +17-43067660-G-C,17,43067660,rs786203868,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1674Met,p.Ile1674Met,c.5022C>G,missense_variant,,,,1,152060,0.000006576351440220966,0,0,,,7.22,0.453,0.0100,-0.0300,0.0610,,,0,41404,0,0,0,15232,0,0,0,3468,0,0,0,5188,0,0,0,10592,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43067662-T-C,17,43067662,rs1050371477,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1674Val,p.Ile1674Val,c.5020A>G,missense_variant,not provided,867544,,3,1461430,0.0000020527839171222705,0,0,nfe,7.200000000000001e-7,11.2,0.481,0.00,0.00,-0.0380,0.350,0.00100,0,33468,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53408,0,0,0,5764,0,0,3,1111596,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43067665-G-A,17,43067665,rs758539222,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1673Tyr,p.His1673Tyr,c.5017C>T,missense_variant,Likely benign,865537,,1,628696,0.0000015905938641251098,0,0,,,15.2,0.532,0.0100,0.00,0.700,0.0600,0.296,0,17692,0,0,0,43736,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4146,0,0,0,350058,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43067667-T-C,17,43067667,rs1567772328,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1672Arg,p.His1672Arg,c.5015A>G,missense_variant,Uncertain significance,868927,,1,628716,0.0000015905432659579206,0,0,,,19.7,0.514,0.00,0.00,3.60,0.110,0.0590,0,17690,0,0,0,43738,0,0,0,20982,0,0,1,36062,0,0,0,53134,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43067670-T-C,17,43067670,rs2052181606,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1671Arg,p.Lys1671Arg,c.5012A>G,missense_variant,Uncertain significance,868525,,1,832620,0.0000012010280800365112,0,0,,,18.1,0.420,0.00,0.00,2.40,0.110,0.00,0,15774,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,761440,0,0,,,,,0,16456,0,0,1,27292,0,0 +17-43067672-T-C,17,43067672,rs777828258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1670Arg,p.Arg1670Arg,c.5010A>G,synonymous_variant,Likely benign,427336,,1,628710,0.000001590558445070064,0,0,,,5.46,,0.00,0.00,1.43,,,0,17690,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43067675-G-A,17,43067675,rs751856943,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1669Ala,p.Ala1669Ala,c.5007C>T,synonymous_variant,Likely benign,427317,,2,628692,0.000003181207968289719,0,0,sas,0.00000476,9.70,,0.210,-0.180,3.31,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,0,4146,0,0,0,350058,0,0,,,,,2,69786,0,0,0,33096,0,0 +17-43067677-C-T,17,43067677,rs80357087,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1669Thr,p.Ala1669Thr,c.5005G>A,missense_variant,Uncertain significance,868917,,1,1460486,6.847035849710302e-7,0,0,,,24.5,0.647,0.0300,-0.0800,7.11,0.00,0.462,0,33442,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53402,0,0,0,5760,0,0,1,1110768,0,0,,,,,0,86222,0,0,0,60356,0,0 +17-43067677-C-A,17,43067677,rs80357087,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1669Ser,p.Ala1669Ser,c.5005G>T,missense_variant,Conflicting interpretations of pathogenicity,41831,,150,1612512,0.00009302256355301542,0,0,nfe,0.0001004,23.7,0.704,0.0300,-0.0500,7.11,0.00,0.455,1,74836,0,0,0,59964,0,0,7,29604,0,0,0,44870,0,0,0,63984,0,0,0,6076,0,0,138,1178788,0,0,0,912,0,0,0,91036,0,0,4,62442,0,0 +17-43067680-A-G,17,43067680,rs587781472,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1668Leu,p.Phe1668Leu,c.5002T>C,missense_variant,not provided,868514,,6,1460500,0.000004108182129407737,0,0,nfe,0.0000013199999999999999,23.2,0.601,0.00,0.00,6.30,0.00,0.188,0,33444,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53406,0,0,0,5760,0,0,5,1110768,0,0,,,,,1,86228,0,0,0,60356,0,0 +17-43067681-C-T,17,43067681,rs889937720,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1667Lys,p.Lys1667Lys,c.5001G>A,synonymous_variant,Likely benign,482927,,2,780744,0.0000025616591353888085,0,0,,,5.34,,0.150,-0.120,2.47,,,0,59096,0,0,0,58990,0,0,0,24450,0,0,0,41250,0,0,0,63720,0,0,0,4462,0,0,2,418070,0,0,0,910,0,0,0,74616,0,0,0,35180,0,0 +17-43067682-T-C,17,43067682,rs1057519495,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1667Arg,p.Lys1667Arg,c.5000A>G,missense_variant,Conflicting interpretations of pathogenicity,375448,,13,1460202,0.000008902877821013806,0,0,nfe,0.00000576,23.5,0.586,0.290,-0.270,4.73,0.00,0.831,0,33440,0,0,0,44722,0,0,0,26130,0,0,0,39678,0,0,1,53398,0,0,0,5760,0,0,12,1110502,0,0,,,,,0,86222,0,0,0,60350,0,0 +17-43067683-T-C,17,43067683,rs80357204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1667Glu,p.Lys1667Glu,c.4999A>G,missense_variant,Uncertain significance,489727,,11,1459950,0.000007534504606322135,0,0,nfe,0.00000455,24.4,0.654,0.00,0.00,6.33,0.00,0.760,0,33428,0,0,0,44720,0,0,0,26130,0,0,0,39682,0,0,0,53404,0,0,1,5760,0,0,10,1110282,0,0,,,,,0,86214,0,0,0,60330,0,0 +17-43067684-G-A,17,43067684,rs730882165,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Tyr,p.Tyr1666Tyr,c.4998C>T,synonymous_variant,Likely benign,187169,,2,1459710,0.0000013701351638339122,0,0,eas,0.00000835,0.821,,0.230,-0.150,-0.0920,,,0,33428,0,0,0,44720,0,0,0,26132,0,0,2,39682,0,0,0,53402,0,0,0,5760,0,0,0,1110062,0,0,,,,,0,86204,0,0,0,60320,0,0 +17-43067684-G-GT,17,43067684,rs876658947,G,GT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Ter,p.Tyr1666Ter,c.4997dup,stop_gained,Pathogenic,231083,lof_flag,1,1459710,6.850675819169561e-7,0,0,,,34.0,,0.0900,-0.140,-0.0920,,,0,33428,0,0,0,44720,0,0,0,26132,0,0,1,39682,0,0,0,53402,0,0,0,5760,0,0,0,1110062,0,0,,,,,0,86204,0,0,0,60320,0,0 +17-43067685-T-C,17,43067685,rs397509216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1666Cys,p.Tyr1666Cys,c.4997A>G,missense_variant,Conflicting interpretations of pathogenicity,55352,,4,1459374,0.0000027409012357353222,0,0,amr,0.00001779,24.0,0.552,0.0200,-0.0300,2.29,0.00,0.647,0,33414,0,0,3,44722,0,0,0,26126,0,0,0,39680,0,0,0,53402,0,0,0,5758,0,0,1,1109764,0,0,,,,,0,86204,0,0,0,60304,0,0 +17-43067688-A-C,17,43067688,rs1476854015,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1665Gly,p.Val1665Gly,c.4994T>G,missense_variant,Likely benign,825350,,3,830434,0.0000036125688495413243,0,0,nfe,0.00000105,24.2,0.769,0.110,-0.0700,1.37,0.00,0.00300,0,15724,0,0,0,984,0,0,0,5144,0,0,0,3616,0,0,0,274,0,0,0,1616,0,0,3,759454,0,0,,,,,0,16400,0,0,0,27222,0,0 +17-43067689-C-A,17,43067689,rs80357169,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1665Leu,p.Val1665Leu,c.4993G>T,missense_variant,Uncertain significance,825349,,3,1610740,0.0000018624979822938525,0,0,sas,0.00000876,18.2,0.599,0.140,-0.170,4.95,0.00,0.00300,0,74812,0,0,0,59966,0,0,0,29588,0,0,0,44866,0,0,0,63986,0,0,0,6070,0,0,0,1177124,0,0,0,912,0,0,3,91020,0,0,0,62396,0,0 +17-43067689-C-G,17,43067689,rs80357169,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1665Leu,p.Val1665Leu,c.4993G>C,missense_variant,Conflicting interpretations of pathogenicity,479204,,1,152060,0.000006576351440220966,0,0,,,16.8,0.599,0.00,-0.0200,4.95,,,1,41408,0,0,0,15248,0,0,0,3470,0,0,0,5188,0,0,0,10594,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43067689-C-T,17,43067689,rs80357169,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1665Met,p.Val1665Met,c.4993G>A,missense_variant,Conflicting interpretations of pathogenicity,55350,,14,1458680,0.000009597718485205802,0,0,amr,0.000007410000000000001,19.3,0.581,0.150,-0.150,4.95,0.0200,0.0140,0,33404,0,0,2,44718,0,0,1,26118,0,0,0,39678,0,0,0,53392,0,0,0,5754,0,0,10,1109118,0,0,,,,,0,86194,0,0,1,60304,0,0 +17-43067690-G-A,17,43067690,rs142459158,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1664Leu,p.Leu1664Leu,c.4992C>T,synonymous_variant,Benign,136551,,163,1610376,0.00010121859739588767,0,0,afr,0.0016321199999999997,2.16,,0.160,-0.150,-0.359,,,141,74782,0,0,0,59962,0,0,0,29580,0,0,2,44858,0,0,1,63952,0,0,0,6070,0,0,8,1176892,0,0,0,912,0,0,6,90984,0,0,5,62384,0,0 +17-43067690-G-C,17,43067690,rs142459158,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1664Leu,p.Leu1664Leu,c.4992C>G,synonymous_variant,Likely benign,868505,,1,1458356,6.857036279207547e-7,0,0,,,0.628,,0.00,0.00,-0.359,,,0,33394,0,0,0,44718,0,0,0,26110,0,0,0,39668,0,0,0,53386,0,0,0,5754,0,0,0,1108868,0,0,,,,,0,86164,0,0,1,60294,0,0 +17-43067691-A-G,17,43067691,rs80357314,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1664Pro,p.Leu1664Pro,c.4991T>C,missense_variant,Benign,37621,,7,1610422,0.000004346686769058048,0,0,nfe,0.00000247,19.2,0.569,0.00,0.00,1.79,0.0200,0.00300,0,74830,0,0,0,59980,0,0,0,29590,0,0,0,44868,0,0,0,64000,0,0,0,6072,0,0,7,1176778,0,0,0,912,0,0,0,91002,0,0,0,62390,0,0 +17-43067692-G-A,17,43067692,rs1467535423,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1664Phe,p.Leu1664Phe,c.4990C>T,missense_variant,Likely benign,868502,,1,1457900,6.859181013786954e-7,0,0,,,20.0,0.616,0.0200,-0.0500,1.50,0.00,0.00100,0,33390,0,0,0,44716,0,0,0,26118,0,0,0,39674,0,0,0,53382,0,0,0,5758,0,0,0,1108406,0,0,,,,,1,86170,0,0,0,60286,0,0 +17-43067693-C-A,17,43067693,rs748807039,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Ile,p.Met1663Ile,c.4989G>T,missense_variant,not provided,868099,,2,1457624,0.000001372095958902982,0,0,,,19.3,0.559,0.0300,-0.0200,1.06,0.0200,0.00100,0,33382,0,0,0,44716,0,0,0,26110,0,0,0,39666,0,0,0,53382,0,0,0,5752,0,0,0,1108180,0,0,,,,,0,86170,0,0,2,60266,0,0 +17-43067694-A-G,17,43067694,rs80357205,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1663Thr,p.Met1663Thr,c.4988T>C,missense_variant,Uncertain significance,868095,,1,152158,0.000006572115826969334,0,0,,,15.5,0.534,0.0900,-0.100,0.139,,,1,41432,0,0,0,15268,0,0,0,3468,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43067694-A-T,17,43067694,rs80357205,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Lys,p.Met1663Lys,c.4988T>A,missense_variant,Uncertain significance,55349,,12,1457250,0.000008234688625836336,0,0,nfe,0.00000382,22.9,0.629,0.370,-0.370,0.139,0.00,0.00100,0,33380,0,0,0,44712,0,0,0,26110,0,0,0,39662,0,0,0,53390,0,0,0,5750,0,0,9,1107838,0,0,,,,,0,86156,0,0,3,60252,0,0 +17-43067695-T-C,17,43067695,rs80357117,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1663Val,p.Met1663Val,c.4987A>G,missense_variant,not provided,868094,,1,628602,0.0000015908317186391388,0,0,,,7.09,0.499,0.00,0.00,-0.0970,0.210,0.00,0,17692,0,0,0,43736,0,0,0,20976,0,0,0,36058,0,0,1,53116,0,0,0,4140,0,0,0,350004,0,0,,,,,0,69792,0,0,0,33088,0,0 +17-43067696-C-A,17,43067696,rs730881495,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-1G>T,,c.4987-1G>T,splice_acceptor_variant,Pathogenic,267565,,1,828264,0.0000012073445181729497,0,0,,,28.7,,0.730,-0.830,8.86,,,0,15678,0,0,0,974,0,0,0,5128,0,0,0,3602,0,0,0,274,0,0,0,1612,0,0,1,757466,0,0,,,,,0,16360,0,0,0,27170,0,0 +17-43067699-A-C,17,43067699,rs1157151499,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-4T>G,,c.4987-4T>G,splice_region_variant,Benign/Likely benign,489726,,7,1601688,0.000004370389239352483,0,0,nfe,0.00000249,12.9,,0.0500,-0.100,2.89,,,0,74624,0,0,0,59966,0,0,0,29528,0,0,0,44814,0,0,0,63968,0,0,0,6044,0,0,7,1168902,0,0,0,910,0,0,0,90822,0,0,0,62110,0,0 +17-43067704-A-G,17,43067704,rs2052193720,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-9T>C,,c.4987-9T>C,intron_variant,not provided,868091,,1,1449648,6.898226328046532e-7,0,0,,,21.0,,0.0600,-0.0800,4.68,,,0,33180,0,0,0,44692,0,0,0,26070,0,0,0,39630,0,0,0,53366,0,0,0,5718,0,0,1,1100982,0,0,,,,,0,85998,0,0,0,60012,0,0 +17-43067706-A-T,17,43067706,rs80358170,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-11T>A,,c.4987-11T>A,intron_variant,Likely benign,1588147,,1,1448518,6.903607687305232e-7,0,0,,,22.5,,0.310,-0.340,2.25,,,0,33162,0,0,0,44692,0,0,0,26060,0,0,0,39618,0,0,0,53366,0,0,0,5710,0,0,0,1099952,0,0,,,,,0,85980,0,0,1,59978,0,0 +17-43067706-A-G,17,43067706,rs80358170,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-11T>C,,c.4987-11T>C,intron_variant,Conflicting interpretations of pathogenicity,125740,,10,1600650,0.000006247461968575267,0,0,nfe,0.00000433,21.3,,0.260,-0.210,2.25,,,0,74596,0,0,0,59954,0,0,0,29530,0,0,0,44810,0,0,0,63974,0,0,0,6026,0,0,10,1167968,0,0,0,912,0,0,0,90810,0,0,0,62070,0,0 +17-43067708-C-A,17,43067708,rs1414317416,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-13G>T,,c.4987-13G>T,intron_variant,Likely benign,1122375,,2,1595734,0.0000012533417223672617,0,0,,,5.05,,0.00,0.00,-0.611,,,1,74428,0,0,0,59926,0,0,0,29492,0,0,0,44768,0,0,0,63902,0,0,0,6000,0,0,0,1163754,0,0,0,910,0,0,1,90660,0,0,0,61894,0,0 +17-43067710-AAT-A,17,43067710,rs1401288616,AAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-17_4987-16del,,c.4987-17_4987-16del,intron_variant,,,,1,152142,0.000006572806982950139,0,0,,,15.0,,0.120,-0.0500,0.701,,,1,41430,0,0,0,15262,0,0,0,3470,0,0,0,5192,0,0,0,10602,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43067711-A-C,17,43067711,rs773821829,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-16T>G,,c.4987-16T>G,intron_variant,Likely pathogenic,1713197,,1,1439476,6.946972370501488e-7,0,0,,,22.7,,0.680,-0.730,2.31,,,0,32964,0,0,0,44678,0,0,0,25990,0,0,0,39580,0,0,0,53324,0,0,0,5626,0,0,1,1091848,0,0,,,,,0,85782,0,0,0,59684,0,0 +17-43067711-A-G,17,43067711,rs773821829,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-16T>C,,c.4987-16T>C,intron_variant,Likely benign,1084731,,4,1439476,0.0000027787889482005953,0,0,nfe,8.6e-7,18.3,,0.140,-0.140,2.31,,,0,32964,0,0,0,44678,0,0,0,25990,0,0,0,39580,0,0,0,53324,0,0,0,5626,0,0,4,1091848,0,0,,,,,0,85782,0,0,0,59684,0,0 +17-43067714-T-G,17,43067714,rs1175825700,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-19A>C,,c.4987-19A>C,intron_variant,Likely benign,2106272,,2,1589950,0.0000012579011918613792,0,0,,,4.60,,0.0100,0.00,-3.04,,,0,74354,0,0,0,59936,0,0,0,29454,0,0,1,44762,0,0,0,63926,0,0,0,5938,0,0,1,1158400,0,0,0,912,0,0,0,90552,0,0,0,61716,0,0 +17-43067715-T-G,17,43067715,rs80358035,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-20A>C,,c.4987-20A>C,intron_variant,Likely benign,762202,,2,1584398,0.0000012623090915287699,0,0,,,11.3,,0.0200,0.00,-0.0300,,,2,74198,0,0,0,59930,0,0,0,29426,0,0,0,44720,0,0,0,63866,0,0,0,5900,0,0,0,1153474,0,0,0,912,0,0,0,90444,0,0,0,61528,0,0 +17-43067715-T-C,17,43067715,rs80358035,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-20A>G,,c.4987-20A>G,intron_variant,Benign,91635,,751,1584512,0.00047396296146700055,5,0,afr,0.008411079999999996,13.4,,0.0700,-0.0400,-0.0300,,,667,74316,5,0,27,59950,0,0,0,29426,0,0,0,44708,0,0,0,63866,0,0,2,5878,0,0,4,1153466,0,0,0,912,0,0,2,90440,0,0,49,61550,0,0 +17-43067716-C-A,17,43067716,rs1423988232,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-21G>T,,c.4987-21G>T,intron_variant,,,,1,1432366,6.981455856952762e-7,0,0,,,9.61,,0.00,0.00,-0.135,,,0,32782,0,0,0,44674,0,0,0,25956,0,0,0,39526,0,0,1,53282,0,0,0,5582,0,0,0,1085520,0,0,,,,,0,85616,0,0,0,59428,0,0 +17-43067716-C-T,17,43067716,rs1423988232,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-21G>A,,c.4987-21G>A,intron_variant,,,,1,1432368,6.981446108821197e-7,0,0,,,10.3,,0.00,0.00,-0.135,,,0,32782,0,0,0,44674,0,0,0,25956,0,0,0,39526,0,0,0,53282,0,0,0,5582,0,0,1,1085520,0,0,,,,,0,85618,0,0,0,59428,0,0 +17-43067717-C-T,17,43067717,rs2153722133,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-22G>A,,c.4987-22G>A,intron_variant,,,,6,801914,0.00000748209907795599,0,0,nfe,0.00000294,7.49,,0.0800,-0.0500,-0.130,,,0,15058,0,0,0,938,0,0,0,4970,0,0,0,3476,0,0,0,266,0,0,0,1558,0,0,6,733588,0,0,,,,,0,15780,0,0,0,26280,0,0 +17-43067724-A-G,17,43067724,rs994608035,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-29T>C,,c.4987-29T>C,intron_variant,,,,2,1394556,0.0000014341482163498633,0,0,afr,0.00001036,12.4,,0.0500,-0.0300,0.485,,,2,31970,0,0,0,44618,0,0,0,25708,0,0,0,39290,0,0,0,53108,0,0,0,5374,0,0,0,1051654,0,0,,,,,0,84708,0,0,0,58126,0,0 +17-43067726-G-C,17,43067726,rs1466721291,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-31C>G,,c.4987-31C>G,intron_variant,,,,1,1388158,7.203790922935286e-7,0,0,,,6.24,,0.00,0.00,0.705,,,0,31866,0,0,0,44592,0,0,0,25646,0,0,0,39216,0,0,0,52998,0,0,0,5328,0,0,1,1046014,0,0,,,,,0,84588,0,0,0,57910,0,0 +17-43067727-A-G,17,43067727,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-32T>C,,c.4987-32T>C,intron_variant,,,,1,626562,0.0000015960112486872808,0,0,,,12.7,,0.0100,0.00,1.43,,,0,17656,0,0,0,43686,0,0,0,20920,0,0,0,35982,0,0,0,52708,0,0,0,3816,0,0,1,349116,0,0,,,,,0,69718,0,0,0,32960,0,0 +17-43067728-G-A,17,43067728,rs367645566,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-33C>T,,c.4987-33C>T,intron_variant,Uncertain significance,433720,,35,1528136,0.000022903720611254496,0,0,nfe,0.00002098,9.44,,0.0100,-0.0100,0.179,,,0,72914,0,0,0,59792,0,0,0,29012,0,0,0,44306,0,0,0,63398,0,0,0,5580,0,0,32,1103476,0,0,0,912,0,0,0,89174,0,0,3,59572,0,0 +17-43067729-T-C,17,43067729,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-34A>G,,c.4987-34A>G,intron_variant,,,,1,750406,0.0000013326119460665292,0,0,,,14.8,,0.0600,-0.0400,0.472,,,0,13972,0,0,0,872,0,0,0,4632,0,0,0,3182,0,0,0,258,0,0,0,1444,0,0,1,686820,0,0,,,,,0,14656,0,0,0,24570,0,0 +17-43067731-A-G,17,43067731,rs776992322,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-36T>C,,c.4987-36T>C,intron_variant,,,,1,1355740,7.376045554457344e-7,0,0,,,13.5,,0.0400,-0.0100,0.720,,,0,31200,0,0,1,44534,0,0,0,25434,0,0,0,39054,0,0,0,52904,0,0,0,5174,0,0,0,1016748,0,0,,,,,0,83910,0,0,0,56782,0,0 +17-43067733-C-G,17,43067733,rs759950362,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-38G>C,,c.4987-38G>C,intron_variant,,,,1,151932,0.0000065818918990074505,0,0,,,5.04,,0.00,0.0100,0.778,,,0,41344,0,0,0,15252,0,0,0,3468,0,0,0,5186,0,0,0,10548,0,0,0,316,0,0,1,67992,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 +17-43067737-A-G,17,43067737,rs1304323890,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-42T>C,,c.4987-42T>C,intron_variant,,,,3,625478,0.000004796331765465772,0,0,amr,0.00001823,4.76,,0.0200,-0.0200,0.494,,,0,17604,0,0,3,43652,0,0,0,20890,0,0,0,35938,0,0,0,52508,0,0,0,3698,0,0,0,348670,0,0,,,,,0,69648,0,0,0,32870,0,0 +17-43067738-G-A,17,43067738,rs765728864,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-43C>T,,c.4987-43C>T,intron_variant,,,,4,1471962,0.0000027174614562060706,0,0,,,5.62,,0.00,0.00,1.10,,,0,71674,0,0,0,59548,0,0,0,28608,0,0,0,43960,0,0,3,62872,0,0,0,5338,0,0,1,1053376,0,0,0,910,0,0,0,87958,0,0,0,57718,0,0 +17-43067738-G-T,17,43067738,rs765728864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-43C>A,,c.4987-43C>A,intron_variant,,,,2,1320430,0.00000151465810379952,0,0,nfe,3.399999999999999e-7,5.86,,0.00,0.00,1.10,,,0,30454,0,0,0,44368,0,0,0,25140,0,0,0,38800,0,0,0,52464,0,0,0,5022,0,0,2,985414,0,0,,,,,0,83136,0,0,0,55632,0,0 +17-43067740-A-T,17,43067740,rs186304766,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-45T>A,,c.4987-45T>A,intron_variant,,,,5,1468376,0.00000340512239371932,0,0,amr,0.000022650000000000005,9.28,,0.0400,-0.0400,0.759,,,0,71854,0,0,4,59618,0,0,0,28618,0,0,0,43974,0,0,0,63128,0,0,0,5298,0,0,0,1049514,0,0,0,912,0,0,0,87848,0,0,1,57612,0,0 +17-43067741-C-T,17,43067741,rs2153723117,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-46G>A,,c.4987-46G>A,intron_variant,,,,2,1305112,0.0000015324355304372345,0,0,,,1.17,,0.00,0.00,-0.979,,,0,30120,0,0,0,44324,0,0,0,25076,0,0,1,38724,0,0,0,52440,0,0,0,4956,0,0,1,971650,0,0,,,,,0,82760,0,0,0,55062,0,0 +17-43067742-A-G,17,43067742,rs2153723157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-47T>C,,c.4987-47T>C,intron_variant,,,,1,1293362,7.731787388217684e-7,0,0,,,8.62,,0.0200,-0.0200,0.179,,,0,29896,0,0,0,44308,0,0,0,25028,0,0,1,38668,0,0,0,52408,0,0,0,4908,0,0,0,960900,0,0,,,,,0,82550,0,0,0,54696,0,0 +17-43067743-C-G,17,43067743,rs1035013269,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-48G>C,,c.4987-48G>C,intron_variant,,,,1,1291750,7.741436036384749e-7,0,0,,,0.740,,0.0200,-0.0100,-0.864,,,0,29864,0,0,0,44260,0,0,0,25012,0,0,0,38646,0,0,1,52342,0,0,0,4910,0,0,0,959580,0,0,,,,,0,82534,0,0,0,54602,0,0 +17-43067743-C-T,17,43067743,rs1035013269,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-48G>A,,c.4987-48G>A,intron_variant,,,,1,1291748,7.741448022369688e-7,0,0,,,0.811,,0.00,0.00,-0.864,,,0,29864,0,0,0,44260,0,0,0,25012,0,0,0,38646,0,0,1,52342,0,0,0,4910,0,0,0,959578,0,0,,,,,0,82534,0,0,0,54602,0,0 +17-43067744-A-G,17,43067744,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-49T>C,,c.4987-49T>C,intron_variant,,,,1,638716,0.000001565641067391454,0,0,,,6.97,,0.0300,-0.0200,0.517,,,0,11718,0,0,0,716,0,0,0,4010,0,0,0,2684,0,0,0,196,0,0,0,1272,0,0,1,584802,0,0,,,,,0,12460,0,0,0,20858,0,0 +17-43067746-C-T,17,43067746,rs2153723324,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-51G>A,,c.4987-51G>A,intron_variant,,,,2,1240514,0.0000016122349284248303,0,0,,,0.371,,0.00,0.00,-0.243,,,1,28838,0,0,0,44162,0,0,0,24722,0,0,1,38366,0,0,0,52086,0,0,0,4748,0,0,0,913062,0,0,,,,,0,81610,0,0,0,52920,0,0 +17-43067748-C-T,17,43067748,rs2153723422,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-53G>A,,c.4987-53G>A,intron_variant,Likely benign,1285199,,18,1237076,0.000014550439908299895,0,0,nfe,0.00001235,1.35,,0.00,0.0100,-0.102,,,0,28696,0,0,0,44072,0,0,0,24590,0,0,0,38120,0,0,0,51752,0,0,0,4726,0,0,18,910986,0,0,,,,,0,81510,0,0,0,52624,0,0 +17-43067750-G-T,17,43067750,rs2153723503,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-55C>A,,c.4987-55C>A,intron_variant,,,,1,1210578,8.260516877062031e-7,0,0,,,1.96,,0.00,0.0100,-0.0760,,,0,28108,0,0,0,43800,0,0,0,24234,0,0,0,37710,0,0,1,51068,0,0,0,4602,0,0,0,888402,0,0,,,,,0,80988,0,0,0,51666,0,0 +17-43067753-T-C,17,43067753,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-58A>G,,c.4987-58A>G,intron_variant,,,,2,1189270,0.0000016817039023939056,0,0,amr,0.00000755,0.669,,0.00,0.00,-0.894,,,0,27790,0,0,2,43906,0,0,0,24370,0,0,0,38106,0,0,0,51748,0,0,0,4522,0,0,0,867222,0,0,,,,,0,80368,0,0,0,51238,0,0 +17-43067753-T-A,17,43067753,rs2153723637,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-58A>T,,c.4987-58A>T,intron_variant,,,,1,1189270,8.408519511969528e-7,0,0,,,0.561,,0.00,-0.0100,-0.894,,,0,27790,0,0,0,43906,0,0,0,24370,0,0,0,38106,0,0,0,51748,0,0,0,4522,0,0,1,867222,0,0,,,,,0,80368,0,0,0,51238,0,0 +17-43067755-C-T,17,43067755,rs2153723723,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-60G>A,,c.4987-60G>A,intron_variant,,,,1,614984,0.0000016260585641252455,0,0,,,1.02,,0.00,0.00,0.0720,,,0,17302,0,0,0,43080,0,0,0,20594,0,0,0,35288,0,0,0,50898,0,0,0,3286,0,0,1,343104,0,0,,,,,0,69206,0,0,0,32226,0,0 +17-43067756-T-C,17,43067756,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-61A>G,,c.4987-61A>G,intron_variant,,,,2,1169618,0.0000017099600040355056,0,0,,,7.69,,0.00,0.00,0.316,,,0,27326,0,0,0,43834,0,0,1,24298,0,0,0,38046,0,0,0,51596,0,0,0,4428,0,0,0,849478,0,0,,,,,0,79990,0,0,1,50622,0,0 +17-43067758-G-C,17,43067758,rs2052197985,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-63C>G,,c.4987-63C>G,intron_variant,,,,11,1294328,0.000008498618588178577,0,0,nfe,0.00000563,0.370,,0.00,0.00,-0.274,,,0,67638,0,0,0,58452,0,0,0,27046,0,0,0,42004,0,0,0,60026,0,0,0,4594,0,0,10,897864,0,0,0,910,0,0,0,84396,0,0,1,51398,0,0 +17-43067759-T-C,17,43067759,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-64A>G,,c.4987-64A>G,intron_variant,,,,6,1143168,0.000005248572388310379,0,0,nfe,0.0000026100000000000004,5.48,,0.00,-0.0200,-0.385,,,0,26824,0,0,0,43648,0,0,0,24050,0,0,0,37804,0,0,0,51142,0,0,0,4314,0,0,6,826254,0,0,,,,,0,79388,0,0,0,49744,0,0 +17-43067761-A-AT,17,43067761,,A,AT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-67dup,,c.4987-67dup,intron_variant,,,,1,151536,0.0000065990919649456235,0,0,,,1.28,,0.00,0.0200,0.441,,,0,41268,0,0,0,15202,0,0,0,3464,0,0,0,5134,0,0,0,10430,0,0,1,290,0,0,0,67934,0,0,0,908,0,0,0,4800,0,0,0,2106,0,0 +17-43067763-T-C,17,43067763,rs8176234,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-68A>G,,c.4987-68A>G,intron_variant,Benign,125746,,413426,1221538,0.33844710520671484,72491,0,sas,0.49277931999999974,0.133,,0.0100,0.0200,-0.200,,,15566,66818,1837,0,18796,58246,3053,0,9919,27024,1805,0,15061,42456,2726,0,23871,60284,4703,0,1594,4280,319,0,270607,829700,44628,0,258,908,40,0,40961,82448,10463,0,16793,49374,2917,0 +17-43067765-C-T,17,43067765,rs1014146864,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-70G>A,,c.4987-70G>A,intron_variant,Uncertain significance,433719,,27,1177800,0.00002292409577177789,0,0,nfe,0.00002052,0.292,,0.00,0.0100,-0.270,,,0,66144,0,0,0,58168,0,0,0,26726,0,0,0,42236,0,0,0,59510,0,0,0,4144,0,0,24,791000,0,0,0,912,0,0,0,81088,0,0,3,47872,0,0 +17-43067766-A-G,17,43067766,rs34613393,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4987-71T>C,,c.4987-71T>C,intron_variant,,,,1,151160,0.000006615506747816882,0,0,,,5.69,,0.00,-0.0100,0.441,,,0,41128,0,0,1,15136,0,0,0,3466,0,0,0,5128,0,0,0,10340,0,0,0,314,0,0,0,67882,0,0,0,910,0,0,0,4772,0,0,0,2084,0,0 +17-43067766-A-T,17,43067766,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-71T>A,,c.4987-71T>A,intron_variant,,,,1,1006778,9.932676319903692e-7,0,0,,,5.11,,0.00,-0.0100,0.441,,,0,24300,0,0,0,42582,0,0,0,22972,0,0,0,36516,0,0,0,48352,0,0,0,3694,0,0,1,707544,0,0,,,,,0,75910,0,0,0,44908,0,0 +17-43067768-C-T,17,43067768,rs2153724295,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4987-73G>A,,c.4987-73G>A,intron_variant,,,,10,1008406,0.000009916640718123454,0,0,nfe,0.00000598,0.881,,0.00,0.0100,0.563,,,0,24476,0,0,0,42752,0,0,0,23134,0,0,0,36900,0,0,0,48658,0,0,1,3726,0,0,9,707638,0,0,,,,,0,75914,0,0,0,45208,0,0 +17-43067770-T-C,17,43067770,rs775430301,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4987-75A>G,,c.4987-75A>G,intron_variant,,,,2,1136474,0.0000017598290853992261,0,0,,,2.81,,0.00,0.00,-0.360,,,1,64976,0,0,0,57400,0,0,0,26268,0,0,0,41484,0,0,0,58264,0,0,0,3920,0,0,0,756590,0,0,0,910,0,0,1,80394,0,0,0,46268,0,0 +17-43070853-C-T,17,43070853,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+75G>A,,c.4986+75G>A,intron_variant,,,,1,1360122,7.352281633559342e-7,0,0,,,0.460,,0.0200,0.0200,-1.33,,,0,31364,0,0,0,44430,0,0,0,25490,0,0,0,39156,0,0,0,47352,0,0,0,5578,0,0,1,1025726,0,0,,,,,0,83864,0,0,0,57162,0,0 +17-43070854-A-C,17,43070854,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+74T>G,,c.4986+74T>G,intron_variant,,,,46,743952,0.00006183194614706326,0,0,sas,0.00009389999999999991,4.77,,0.0500,0.0700,0.979,,,1,13804,0,0,0,888,0,0,0,4582,0,0,0,3150,0,0,1,238,0,0,1,1446,0,0,38,680994,0,0,,,,,4,14532,0,0,1,24318,0,0 +17-43070855-A-G,17,43070855,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>C,,c.4986+73T>C,intron_variant,,,,1,1367140,7.314539842298521e-7,0,0,,,2.64,,0.0100,0.0100,0.747,,,0,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,0,47804,0,0,0,5588,0,0,1,1031540,0,0,,,,,0,84050,0,0,0,57448,0,0 +17-43070855-A-T,17,43070855,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>A,,c.4986+73T>A,intron_variant,,,,1,1367140,7.314539842298521e-7,0,0,,,2.58,,0.0600,0.0400,0.747,,,0,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,0,47804,0,0,0,5588,0,0,0,1031540,0,0,,,,,1,84050,0,0,0,57448,0,0 +17-43070855-A-C,17,43070855,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+73T>G,,c.4986+73T>G,intron_variant,,,,46,1367080,0.000033648360008192643,0,0,nfe,0.0000283,2.31,,0.00,0.00,0.747,,,1,31486,0,0,0,44490,0,0,0,25546,0,0,0,39188,0,0,1,47804,0,0,1,5588,0,0,39,1031482,0,0,,,,,3,84050,0,0,1,57446,0,0 +17-43070861-A-T,17,43070861,rs2153798466,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+67T>A,,c.4986+67T>A,intron_variant,,,,1,769976,0.0000012987417789645392,0,0,,,8.69,,0.320,0.250,1.15,,,0,14412,0,0,0,920,0,0,0,4740,0,0,0,3280,0,0,0,248,0,0,1,1514,0,0,0,704490,0,0,,,,,0,15116,0,0,0,25256,0,0 +17-43070863-A-G,17,43070863,rs2052348287,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+65T>C,,c.4986+65T>C,intron_variant,,,,1,152228,0.000006569093727829309,0,0,,,5.58,,0.0100,0.0100,0.477,,,0,41462,0,0,0,15288,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,1,4834,0,0,0,2094,0,0 +17-43070864-T-C,17,43070864,rs887852003,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+64A>G,,c.4986+64A>G,intron_variant,,,,1,793814,0.0000012597409468716853,0,0,,,3.95,,0.00,0.00,-0.880,,,1,14872,0,0,0,940,0,0,0,4886,0,0,0,3408,0,0,0,260,0,0,0,1566,0,0,0,726220,0,0,,,,,0,15606,0,0,0,26056,0,0 +17-43070865-A-G,17,43070865,rs2153798701,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+63T>C,,c.4986+63T>C,intron_variant,,,,1,795680,0.0000012567866478986528,0,0,,,13.9,,0.0800,0.0900,0.841,,,0,14908,0,0,0,942,0,0,0,4902,0,0,0,3414,0,0,0,262,0,0,0,1568,0,0,1,727960,0,0,,,,,0,15652,0,0,0,26072,0,0 +17-43070866-A-G,17,43070866,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+62T>C,,c.4986+62T>C,intron_variant,,,,1,1423440,7.025234642837071e-7,0,0,,,15.3,,0.0100,0.0100,0.0520,,,0,32652,0,0,0,44664,0,0,0,25902,0,0,0,39484,0,0,0,49962,0,0,0,5712,0,0,1,1080408,0,0,,,,,0,85434,0,0,0,59222,0,0 +17-43070866-A-T,17,43070866,rs2153798760,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+62T>A,,c.4986+62T>A,intron_variant,,,,2,1423440,0.0000014050469285674141,0,0,nfe,3.1e-7,14.9,,0.00,0.00,0.0520,,,0,32652,0,0,0,44664,0,0,0,25902,0,0,0,39484,0,0,0,49962,0,0,0,5712,0,0,2,1080408,0,0,,,,,0,85434,0,0,0,59222,0,0 +17-43070868-ACT-A,17,43070868,,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+58_4986+59del,,c.4986+58_4986+59del,intron_variant,,,,2,625452,0.000003197687432448853,0,0,,,5.55,,0.00,0.0100,1.40,,,1,17690,0,0,0,43722,0,0,0,20984,0,0,0,36066,0,0,0,49996,0,0,0,4146,0,0,0,350030,0,0,,,,,0,69752,0,0,1,33066,0,0 +17-43070874-T-C,17,43070874,rs926292653,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+54A>G,,c.4986+54A>G,intron_variant,,,,29,1591500,0.000018221803330191644,0,0,nfe,0.00001751,13.9,,0.0200,0.00,1.27,,,0,74426,0,0,0,59962,0,0,0,29466,0,0,0,44792,0,0,0,61696,0,0,0,6060,0,0,29,1161800,0,0,0,912,0,0,0,90604,0,0,0,61782,0,0 +17-43070875-C-G,17,43070875,rs937716188,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+53G>C,,c.4986+53G>C,intron_variant,,,,4,1594678,0.0000025083433771582727,0,0,amr,0.00000553,3.33,,0.00,0.0100,0.404,,,1,74478,0,0,2,59954,0,0,0,29496,0,0,0,44800,0,0,0,61782,0,0,0,6060,0,0,1,1164650,0,0,0,912,0,0,0,90646,0,0,0,61900,0,0 +17-43070875-C-T,17,43070875,rs937716188,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+53G>A,,c.4986+53G>A,intron_variant,,,,1,152168,0.000006571683928289785,0,0,,,3.92,,0.0100,0.00,0.404,,,0,41446,0,0,1,15256,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43070878-G-A,17,43070878,rs1199462733,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+50C>T,,c.4986+50C>T,intron_variant,,,,30,1596636,0.000018789504934123995,0,0,nfe,0.00001825,8.52,,0.0200,0.00,0.432,,,0,74558,0,0,0,59960,0,0,0,29510,0,0,0,44808,0,0,0,62180,0,0,0,6060,0,0,30,1166006,0,0,0,910,0,0,0,90676,0,0,0,61968,0,0 +17-43070880-ATGT-A,17,43070880,,ATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+45_4986+47del,,c.4986+45_4986+47del,intron_variant,,,,1,627100,0.0000015946420028703556,0,0,,,8.05,,0.00,0.0100,0.327,,,0,17692,0,0,0,43736,0,0,0,20984,0,0,0,36070,0,0,0,51522,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69784,0,0,0,33082,0,0 +17-43070880-A-C,17,43070880,rs776015621,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+48T>G,,c.4986+48T>G,intron_variant,,,,1,152194,0.000006570561257342603,0,0,,,12.6,,0.0100,0.00,0.327,,,0,41462,0,0,0,15266,0,0,0,3472,0,0,1,5202,0,0,0,10618,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43070885-G-C,17,43070885,rs1292888846,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+43C>G,,c.4986+43C>G,intron_variant,,,,1,627426,0.0000015938134536981253,0,0,,,8.44,,0.0200,0.00,0.110,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,51842,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33084,0,0 +17-43070887-T-C,17,43070887,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+41A>G,,c.4986+41A>G,intron_variant,,,,1,826038,0.00000121059805965343,0,0,,,4.47,,0.0700,0.0600,0.501,,,0,15610,0,0,0,976,0,0,0,5106,0,0,0,3586,0,0,0,272,0,0,0,1612,0,0,1,755516,0,0,,,,,0,16286,0,0,0,27074,0,0 +17-43070888-A-C,17,43070888,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+40T>G,,c.4986+40T>G,intron_variant,,,,1,627722,0.0000015930618968269393,0,0,,,15.8,,0.290,0.140,-0.00900,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,52120,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69792,0,0,0,33086,0,0 +17-43070889-A-G,17,43070889,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+39T>C,,c.4986+39T>C,intron_variant,,,,1,627762,0.000001592960389446956,0,0,,,12.4,,0.0400,0.0200,-0.437,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52158,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33088,0,0 +17-43070890-G-A,17,43070890,rs2153799824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+38C>T,,c.4986+38C>T,intron_variant,,,,3,1454860,0.000002062054080805026,0,0,nfe,7.200000000000001e-7,10.0,,0.0100,0.00,0.525,,,0,33336,0,0,0,44716,0,0,0,26106,0,0,0,39668,0,0,0,52456,0,0,0,5764,0,0,3,1106536,0,0,,,,,0,86106,0,0,0,60172,0,0 +17-43070893-T-C,17,43070893,rs764256814,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+35A>G,,c.4986+35A>G,intron_variant,,,,3,780262,0.000003844862366743478,0,0,nfe,0.0000019100000000000003,11.2,,0.00,0.0300,0.838,,,0,59146,0,0,0,59022,0,0,0,24454,0,0,0,41268,0,0,0,63060,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74628,0,0,0,35180,0,0 +17-43070894-T-C,17,43070894,rs1408877197,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4986+34A>G,,c.4986+34A>G,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,3.81,,0.0400,0.0500,-0.264,,,1,41450,0,0,0,15272,0,0,0,3472,0,0,0,5202,0,0,0,10632,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43070899-A-C,17,43070899,rs1220510188,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+29T>G,,c.4986+29T>G,intron_variant,,,,3,780528,0.000003843552057069061,0,0,sas,0.00001067,10.3,,0.0400,0.110,0.393,,,0,59148,0,0,0,59012,0,0,0,24456,0,0,0,41274,0,0,0,63310,0,0,0,4464,0,0,0,418142,0,0,0,912,0,0,3,74628,0,0,0,35182,0,0 +17-43070903-G-A,17,43070903,rs1259321900,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+25C>T,,c.4986+25C>T,intron_variant,,,,70,1460044,0.00004794376059899565,0,0,nfe,0.00004905,1.18,,0.0100,0.0100,-0.603,,,0,33428,0,0,0,44724,0,0,0,26122,0,0,0,39696,0,0,0,53006,0,0,0,5766,0,0,68,1110746,0,0,,,,,0,86212,0,0,2,60344,0,0 +17-43070904-G-A,17,43070904,rs2052350040,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+24C>T,,c.4986+24C>T,intron_variant,,,,5,1460368,0.00000342379455041469,0,0,nfe,8.4e-7,11.4,,0.0200,0.0100,0.594,,,0,33436,0,0,0,44724,0,0,0,26126,0,0,0,39700,0,0,0,53030,0,0,0,5764,0,0,4,1111020,0,0,,,,,1,86220,0,0,0,60348,0,0 +17-43070905-G-C,17,43070905,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+23C>G,,c.4986+23C>G,intron_variant,,,,1,628376,0.000001591403872840465,0,0,,,14.8,,0.0700,0.0500,0.317,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52758,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69796,0,0,0,33092,0,0 +17-43070907-G-A,17,43070907,rs1437706820,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+21C>T,,c.4986+21C>T,intron_variant,,,,2,780606,0.0000025621120001639753,0,0,,,11.2,,0.0300,0.00,0.561,,,1,59142,0,0,0,59006,0,0,0,24454,0,0,0,41270,0,0,0,63432,0,0,0,4460,0,0,0,418134,0,0,0,912,0,0,1,74616,0,0,0,35180,0,0 +17-43070907-G-C,17,43070907,rs1437706820,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+21C>G,,c.4986+21C>G,intron_variant,,,,1,628436,0.000001591251933371099,0,0,,,11.6,,0.0900,0.0400,0.561,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52818,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69796,0,0,0,33090,0,0 +17-43070909-T-C,17,43070909,rs751693860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+19A>G,,c.4986+19A>G,intron_variant,Likely benign,491091,,1,628518,0.0000015910443296771136,0,0,,,2.16,,0.0300,0.0200,-2.54,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,52894,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43070911-C-T,17,43070911,rs1555580584,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+17G>A,,c.4986+17G>A,intron_variant,Likely benign,462657,,3,832802,0.0000036022968244552727,0,0,nfe,0.00000105,3.37,,0.0400,0.00,-1.13,,,0,15774,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,3,761624,0,0,,,,,0,16458,0,0,0,27288,0,0 +17-43070913-T-C,17,43070913,rs1057520602,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+15A>G,,c.4986+15A>G,intron_variant,Likely benign,379464,,1,628570,0.0000015909127066197878,0,0,,,9.16,,0.0300,-0.0300,-0.335,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,52942,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43070915-T-C,17,43070915,rs5031012,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+13A>G,,c.4986+13A>G,intron_variant,Conflicting interpretations of pathogenicity,578343,,13,780818,0.00001664920634514061,0,0,afr,0.00010342999999999999,14.0,,0.870,0.510,-0.615,,,11,59148,0,0,0,59024,0,0,0,24454,0,0,0,41276,0,0,0,63594,0,0,0,4462,0,0,0,418138,0,0,0,912,0,0,0,74622,0,0,2,35188,0,0 +17-43070915-T-A,17,43070915,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+13A>T,,c.4986+13A>T,intron_variant,,,,1,628602,0.0000015908317186391388,0,0,,,9.27,,0.350,0.260,-0.615,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52972,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43070916-G-A,17,43070916,rs1483380186,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+12C>T,,c.4986+12C>T,intron_variant,Likely benign,1139713,,1,628558,0.000001590943079238511,0,0,,,7.44,,0.00,0.00,-0.00800,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,52926,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69796,0,0,0,33096,0,0 +17-43070917-G-A,17,43070917,rs1597830101,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+11C>T,,c.4986+11C>T,intron_variant,,,,1,1461566,6.841976345919377e-7,0,0,,,9.59,,0.00,0.00,0.597,,,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39700,0,0,0,53232,0,0,0,5768,0,0,1,1111892,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43070919-T-A,17,43070919,rs1567774286,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+9A>T,,c.4986+9A>T,intron_variant,Likely benign,630795,,1,628646,0.0000015907203736284014,0,0,,,2.76,,0.00,0.00,-2.42,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53012,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070922-A-G,17,43070922,rs80358086,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4986+6T>C,,c.4986+6T>C,intron_variant,Pathogenic/Likely pathogenic,37620,,3,985268,0.0000030448568308318145,0,0,,,23.2,,0.520,-0.570,6.19,,,2,57230,0,0,0,16264,0,0,0,8622,0,0,0,8830,0,0,0,10890,0,0,0,1934,0,0,1,829912,0,0,0,912,0,0,0,21284,0,0,0,29390,0,0 +17-43070924-T-A,17,43070924,rs80358087,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+4A>T,,c.4986+4A>T,intron_variant,Pathogenic/Likely pathogenic,55342,,1,628680,0.0000015906343449767767,0,0,,,26.7,,0.810,-0.720,6.35,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53048,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070926-A-G,17,43070926,rs397509210,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4986+2T>C,,c.4986+2T>C,splice_donor_variant,Pathogenic,55340,,1,628688,0.0000015906141042933855,0,0,,,33.0,,0.990,-0.820,6.33,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53052,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43070929-A-G,17,43070929,rs28897695,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1662Ser,p.Phe1662Ser,c.4985T>C,missense_variant,Benign,55339,,21,1614022,0.00001301097506725435,0,0,eas,0.00024060999999999996,9.06,0.521,0.0100,0.00,0.331,0.570,0.0560,1,74928,0,0,1,60004,0,0,0,29608,0,0,17,44902,0,0,0,63964,0,0,0,6084,0,0,2,1180042,0,0,0,912,0,0,0,91090,0,0,0,62488,0,0 +17-43070929-A-C,17,43070929,rs28897695,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1662Cys,p.Phe1662Cys,c.4985T>G,missense_variant,Uncertain significance,868081,,4,1461804,0.0000027363449545903555,0,0,nfe,8.4e-7,19.2,0.523,0.270,0.0400,0.331,0.150,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53342,0,0,0,5768,0,0,4,1112000,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43070930-A-C,17,43070930,rs2052354206,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1662Val,p.Phe1662Val,c.4984T>G,missense_variant,not provided,865488,,1,628712,0.0000015905533853338253,0,0,,,10.2,0.500,0.100,0.0700,-0.519,0.540,0.0560,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53078,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43070931-TTCTTCTGGGGTCAGGCCAG-T,17,43070931,rs80359876,TTCTTCTGGGGTCAGGCCAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1655TyrfsTer16,p.Ser1655TyrfsTer16,c.4964_4982del,frameshift_variant,Pathogenic,37616,lof_flag,1,628714,0.0000015905483256297776,0,0,,,33.0,,0.0800,-0.120,1.51,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53076,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070933-C-T,17,43070933,rs80357401,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1661Lys,p.Glu1661Lys,c.4981G>A,missense_variant,Conflicting interpretations of pathogenicity,375447,,1,833108,0.0000012003245677631232,0,0,,,27.9,0.686,0.00,-0.0200,7.11,0.00,0.0330,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070935-T-C,17,43070935,rs2052356167,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1660Gly,p.Glu1660Gly,c.4979A>G,missense_variant,not provided,868471,,1,833106,0.0000012003274493281767,0,0,,,23.5,0.609,0.00,0.00,1.91,0.00,0.234,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070937-T-C,17,43070937,rs1131692087,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1659Pro,p.Pro1659Pro,c.4977A>G,synonymous_variant,Likely benign,868076,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,9.21,,0.0300,0.00,0.400,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070939-G-C,17,43070939,rs2052357870,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1659Ala,p.Pro1659Ala,c.4975C>G,missense_variant,not provided,865745,,1,833108,0.0000012003245677631232,0,0,,,12.6,0.556,0.0200,0.00,0.464,0.270,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070940-G-A,17,43070940,rs1555580615,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1658Thr,p.Thr1658Thr,c.4974C>T,synonymous_variant,Likely benign,491090,,1,628730,0.0000015905078491562355,0,0,,,5.17,,0.00,0.00,-0.309,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53094,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070941-G-T,17,43070941,rs1015073230,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1658Asn,p.Thr1658Asn,c.4973C>A,missense_variant,Conflicting interpretations of pathogenicity,630092,,3,1461844,0.0000020522025606015416,0,0,,,22.7,0.610,0.0100,0.00,4.11,0.260,0.700,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53374,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,3,60396,0,0 +17-43070943-C-G,17,43070943,rs786202058,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1657Leu,p.Leu1657Leu,c.4971G>C,synonymous_variant,Likely benign,219576,,1,628752,0.000001590452197368756,0,0,,,8.12,,0.00,0.0100,5.88,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53118,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43070946-G-C,17,43070946,rs2052360410,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1656Gly,p.Gly1656Gly,c.4968C>G,synonymous_variant,not provided,868881,,1,1461850,6.840647125218045e-7,0,0,,,9.32,,0.00,-0.0200,5.87,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53380,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43070946-G-A,17,43070946,rs2052360410,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1656Gly,p.Gly1656Gly,c.4968C>T,synonymous_variant,not provided,868882,,1,1461850,6.840647125218045e-7,0,0,,,9.70,,0.00,-0.0300,5.87,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53380,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43070952-C-T,17,43070952,rs549640262,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1654Val,p.Val1654Val,c.4962G>A,synonymous_variant,Likely benign,427359,,7,1614216,0.000004336470459963227,0,0,sas,0.00003586999999999999,0.698,,0.00,0.0100,-3.14,,,0,75048,0,0,0,60030,0,0,0,29608,0,0,0,44888,0,0,0,64030,0,0,0,6062,0,0,0,1180042,0,0,0,912,0,0,7,91086,0,0,0,62510,0,0 +17-43070953-A-G,17,43070953,rs1408104448,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1654Ala,p.Val1654Ala,c.4961T>C,missense_variant,not provided,865466,,2,1461874,0.0000013681069640748791,0,0,sas,0.00000385,18.0,0.518,0.00,0.00,3.29,1.00,0.0110,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53402,0,0,0,5768,0,0,0,1112010,0,0,,,,,2,86258,0,0,0,60396,0,0 +17-43070957-C-A,17,43070957,rs80357261,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1653Leu,p.Val1653Leu,c.4957G>T,missense_variant,Conflicting interpretations of pathogenicity,868874,,2,628770,0.000003180813333969496,0,0,eas,0.00000919,24.7,0.717,0.0100,0.0100,8.89,0.00,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36070,0,0,0,53132,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070958-C-T,17,43070958,rs1799967,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1652Ile,p.Met1652Ile,c.4956G>A,missense_variant,Benign,41830,,23606,1614160,0.014624324726173366,338,0,sas,0.03486186000000001,19.0,0.426,0.00,-0.0500,4.21,0.400,0.00300,143,75032,0,0,271,60024,0,0,679,29608,8,0,5,44892,0,0,3175,64006,99,0,143,6062,3,0,15052,1180032,119,0,7,910,0,0,3269,91088,99,0,862,62506,10,0 +17-43070959-A-T,17,43070959,rs80356968,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1652Lys,p.Met1652Lys,c.4955T>A,missense_variant,Uncertain significance,188415,,1,1461886,6.840478669335365e-7,0,0,,,25.0,0.719,0.110,0.0400,6.33,0.00,0.0220,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43070959-A-G,17,43070959,rs80356968,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1652Thr,p.Met1652Thr,c.4955T>C,missense_variant,Benign,37615,,20,1614090,0.000012390882788444262,0,0,nfe,0.0000103,24.4,0.705,0.0200,0.00,6.33,0.00,0.00300,0,74932,0,0,0,60008,0,0,0,29604,0,0,0,44902,0,0,1,64036,0,0,0,6084,0,0,19,1180048,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 +17-43070960-T-C,17,43070960,rs1348949389,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1652Val,p.Met1652Val,c.4954A>G,missense_variant,Uncertain significance,479222,,1,152208,0.000006569956901082729,0,0,,,17.6,0.517,0.00,0.00,0.518,,,0,41448,0,0,0,15286,0,0,0,3472,0,0,0,5202,0,0,0,10620,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43070962-G-A,17,43070962,rs80356938,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1651Phe,p.Ser1651Phe,c.4952C>T,missense_variant,Uncertain significance,55330,,10,833110,0.000012003216862119047,0,0,nfe,0.00000664,25.9,0.794,0.00,-0.0200,8.78,0.00,0.135,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,10,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070965-A-G,17,43070965,rs778487856,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1650Thr,p.Met1650Thr,c.4949T>C,missense_variant,Conflicting interpretations of pathogenicity,441375,,2,1614076,0.0000012390990263159852,0,0,,,20.8,0.561,0.0100,0.00,2.94,0.0100,0.0190,0,74920,0,0,2,59998,0,0,0,29606,0,0,0,44900,0,0,0,64030,0,0,0,6084,0,0,0,1180046,0,0,0,912,0,0,0,91092,0,0,0,62488,0,0 +17-43070965-ATTC-A,17,43070965,rs1597830403,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649del,p.Arg1649del,c.4946_4948del,inframe_deletion,Pathogenic,803408,,1,1461888,6.840469310918484e-7,0,0,,,8.66,,0.0500,0.0100,2.94,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43070968-C-T,17,43070968,rs876660509,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Lys,p.Arg1649Lys,c.4946G>A,missense_variant,Uncertain significance,868865,,9,833108,0.000010802921109868109,0,0,nfe,0.00000556,11.6,0.560,0.00,0.0100,0.864,0.450,0.226,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,9,761904,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43070968-C-A,17,43070968,rs876660509,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Ile,p.Arg1649Ile,c.4946G>T,missense_variant,not provided,868866,,1,833108,0.0000012003245677631232,0,0,,,22.2,0.591,0.00,-0.0200,0.864,0.0100,0.00500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27296,0,0 +17-43070969-T-TAAAA,17,43070969,rs1597830446,T,TAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649PhefsTer2,p.Arg1649PhefsTer2,c.4944_4945insTTTT,frameshift_variant,Pathogenic,803409,lof_flag,1,1461886,6.840478669335365e-7,0,0,,,23.9,,0.00,-0.350,1.36,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43070969-T-C,17,43070969,rs1312537519,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1649Gly,p.Arg1649Gly,c.4945A>G,missense_variant,not provided,868440,,2,1461886,0.000001368095733867073,0,0,nfe,2.999999999999999e-7,14.8,0.596,0.0200,0.00,1.36,0.190,0.286,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43070971-T-C,17,43070971,rs201810810,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1648Arg,p.Lys1648Arg,c.4943A>G,missense_variant,Likely benign,868434,,1,152370,0.000006562971713591914,0,0,,,0.429,0.566,0.00,0.00,-1.94,0.910,0.00,0,41588,0,0,0,15306,0,0,0,3472,0,0,1,5186,0,0,0,10624,0,0,0,294,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2116,0,0 +17-43070972-T-C,17,43070972,rs747694453,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1648Glu,p.Lys1648Glu,c.4942A>G,missense_variant,Uncertain significance,662443,,3,1461890,0.0000020521379857581625,0,0,sas,0.00000385,16.4,0.560,0.0200,0.00,0.309,0.0100,0.00500,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53416,0,0,0,5768,0,0,1,1112012,0,0,,,,,2,86258,0,0,0,60396,0,0 +17-43070973-G-T,17,43070973,rs80357302,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1647Lys,p.Asn1647Lys,c.4941C>A,missense_variant,Conflicting interpretations of pathogenicity,55325,,2,1461880,0.0000013681013489479301,0,0,,,5.24,0.426,0.0100,-0.0500,0.598,0.320,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,1,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43070973-G-C,17,43070973,rs80357302,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1647Lys,p.Asn1647Lys,c.4941C>G,missense_variant,not provided,865710,,1,1461880,6.840506744739651e-7,0,0,,,3.78,0.416,0.00,-0.0100,0.598,0.320,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1112010,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43070977-AC-A,17,43070977,rs80357653,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1646SerfsTer12,p.Val1646SerfsTer12,c.4936del,frameshift_variant,Pathogenic,55322,lof_flag,5,1461888,0.0000034202346554592417,0,0,nfe,7.200000000000001e-7,22.7,,0.0300,-0.120,-1.50,,,0,33480,0,0,0,44724,0,0,1,26136,0,0,0,39700,0,0,0,53414,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43070978-C-T,17,43070978,rs2052371775,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1646Ile,p.Val1646Ile,c.4936G>A,missense_variant,not provided,868859,,1,628770,0.000001590406666984748,0,0,,,4.68,0.553,0.00,0.00,-0.112,0.130,0.00300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33096,0,0 +17-43070979-C-G,17,43070979,rs80357373,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1645Ser,p.Arg1645Ser,c.4935G>C,missense_variant,Conflicting interpretations of pathogenicity,55321,,5,1461886,0.0000034202393346676827,0,0,nfe,8.4e-7,12.7,0.602,0.00,0.00,0.133,0.0500,0.0260,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39700,0,0,0,53414,0,0,0,5768,0,0,4,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43070980-C-G,17,43070980,rs70953661,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1645Thr,p.Arg1645Thr,c.4934G>C,missense_variant,Conflicting interpretations of pathogenicity,142312,,34,1614214,0.00002106288261655518,0,0,afr,0.00028763000000000014,7.21,0.577,0.00,0.00,0.259,0.130,0.0480,30,75050,0,0,0,60020,0,0,0,29606,0,0,0,44890,0,0,0,64034,0,0,0,6062,0,0,0,1180048,0,0,0,908,0,0,0,91086,0,0,4,62510,0,0 +17-43070983-T-C,17,43070983,rs80357016,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1644Gly,p.Glu1644Gly,c.4931A>G,missense_variant,Conflicting interpretations of pathogenicity,55318,,4,628780,0.000006361525493813417,0,0,nfe,0.0000036699999999999996,9.91,0.516,0.00,0.00,1.11,0.270,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,4,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070984-C-T,17,43070984,rs397509205,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1644Lys,p.Glu1644Lys,c.4930G>A,missense_variant,not provided,865697,,1,833110,0.0000012003216862119048,0,0,,,7.78,0.596,0.00,0.0100,1.31,1.00,0.0770,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070991-A-C,17,43070991,rs876658258,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1641Ala,p.Ala1641Ala,c.4923T>G,synonymous_variant,Likely benign,229900,,1,628782,0.0000015903763148436182,0,0,,,7.17,,0.00,0.00,0.410,,,0,17694,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070995-G-C,17,43070995,rs1036328075,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1640Arg,p.Thr1640Arg,c.4919C>G,missense_variant,not provided,865683,,1,628776,0.0000015903914907693677,0,0,,,10.0,0.612,0.0100,-0.0200,0.152,0.0900,0.0800,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53138,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43070997-C-G,17,43070997,rs1060504558,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1639Phe,p.Leu1639Phe,c.4917G>C,missense_variant,not provided,865414,,1,833110,0.0000012003216862119048,0,0,,,1.91,0.589,0.00,-0.0100,0.0600,0.260,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43070999-A-G,17,43070999,rs1213264226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1639Leu,p.Leu1639Leu,c.4915T>C,synonymous_variant,Likely benign,825287,,6,628780,0.000009542288240720125,0,0,,,0.217,,0.00,0.00,-0.332,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,4,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43071000-T-C,17,43071000,rs786201216,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1638Glu,p.Glu1638Glu,c.4914A>G,synonymous_variant,Likely benign,184003,,12,1614118,0.0000074344007067636935,0,0,nfe,0.00000542,2.81,,0.00,0.00,1.02,,,0,74942,0,0,0,60006,0,0,0,29608,0,0,0,44898,0,0,0,64044,0,0,0,6084,0,0,12,1180042,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 +17-43071001-T-C,17,43071001,rs2052380495,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1638Gly,p.Glu1638Gly,c.4913A>G,missense_variant,Uncertain significance,868402,,1,628780,0.0000015903813734533542,0,0,,,14.2,0.464,0.00,0.00,0.495,0.150,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071004-G-A,17,43071004,rs80357048,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1637Leu,p.Pro1637Leu,c.4910C>T,missense_variant,Benign,55314,,60,1614068,0.00003717315503436039,0,0,nfe,0.00003774,14.8,0.571,0.0300,-0.0300,3.03,0.0300,0.0570,0,74916,0,0,0,60004,0,0,0,29608,0,0,0,44898,0,0,0,64024,0,0,0,6084,0,0,57,1180046,0,0,0,912,0,0,0,91086,0,0,3,62490,0,0 +17-43071011-C-T,17,43071011,rs200432771,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1635Lys,p.Glu1635Lys,c.4903G>A,missense_variant,Conflicting interpretations of pathogenicity,41829,,7,1614108,0.000004336760613292295,0,0,nfe,0.0000012399999999999998,3.79,0.513,0.00,0.00,0.620,0.320,0.00,1,74926,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64038,0,0,0,6084,0,0,5,1180054,0,0,0,912,0,0,0,91090,0,0,1,62490,0,0 +17-43071012-C-A,17,43071012,rs746199881,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Ser,p.Arg1634Ser,c.4902G>T,missense_variant,not provided,868387,,3,628778,0.000004771159296285812,0,0,sas,0.00001141,5.08,0.602,0.00,0.00,-0.168,0.0800,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,0,33098,0,0 +17-43071012-C-T,17,43071012,rs746199881,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Arg,p.Arg1634Arg,c.4902G>A,synonymous_variant,Likely benign,215875,,2,628778,0.000003180772864190541,0,0,,,1.49,,0.0100,0.00,-0.168,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43071013-C-T,17,43071013,rs1489040931,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1634Lys,p.Arg1634Lys,c.4901G>A,missense_variant,Uncertain significance,868384,,1,628778,0.0000015903864320952704,0,0,,,0.0570,0.544,0.00,0.00,-0.134,0.570,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43071015-G-A,17,43071015,rs1567774741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1633Ser,p.Ser1633Ser,c.4899C>T,synonymous_variant,Likely benign,745573,,1,628772,0.0000015904016082141062,0,0,,,9.42,,0.450,0.100,3.26,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071018-C-T,17,43071018,rs2052386010,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1632Val,p.Val1632Val,c.4896G>A,synonymous_variant,Likely benign,865393,,2,628768,0.0000031808234515751436,0,0,eas,0.00000919,1.19,,0.0500,-0.0300,0.441,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36068,0,0,0,53136,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071020-C-T,17,43071020,rs770193975,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1632Met,p.Val1632Met,c.4894G>A,missense_variant,Conflicting interpretations of pathogenicity,409339,,3,1614134,0.0000018585817534355885,0,0,nfe,6.800000000000001e-7,0.582,0.593,0.0100,-0.0100,-0.287,0.130,0.00600,0,74962,0,0,0,60002,0,0,0,29606,0,0,0,44904,0,0,0,64024,0,0,0,6084,0,0,3,1180056,0,0,0,912,0,0,0,91094,0,0,0,62490,0,0 +17-43071020-C-G,17,43071020,rs770193975,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1632Leu,p.Val1632Leu,c.4894G>C,missense_variant,Uncertain significance,631407,,1,1461888,6.840469310918484e-7,0,0,,,0.225,0.564,0.00,0.00,-0.287,0.280,0.00100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071022-C-A,17,43071022,rs273901742,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1631Ile,p.Ser1631Ile,c.4892G>T,missense_variant,not provided,868836,,1,628776,0.0000015903914907693677,0,0,,,0.665,0.564,0.0100,0.00,-1.33,0.100,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071022-C-T,17,43071022,rs273901742,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1631Asn,p.Ser1631Asn,c.4892G>A,missense_variant,Conflicting interpretations of pathogenicity,55309,,3,628776,0.000004771174472308103,0,0,eas,0.00000919,0.377,0.501,0.110,0.0100,-1.33,0.0700,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,2,36068,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071025-T-C,17,43071025,rs2153824237,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1630Gly,p.Glu1630Gly,c.4889A>G,missense_variant,Uncertain significance,1050408,,1,833110,0.0000012003216862119048,0,0,,,15.2,0.497,0.0100,-0.0100,0.573,0.0900,0.0240,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071026-C-T,17,43071026,rs1173155015,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1630Lys,p.Glu1630Lys,c.4888G>A,missense_variant,Uncertain significance,967028,,1,628774,0.0000015903965494756462,0,0,,,22.7,0.525,0.0100,-0.0300,1.38,0.0200,0.0240,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071031-A-G,17,43071031,rs4986854,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1628Thr,p.Met1628Thr,c.4883T>C,missense_variant,Benign,41828,,1550,1614148,0.0009602589105831683,11,0,eas,0.011513629999999993,0.507,0.489,0.0300,0.00,-0.768,0.200,0.0280,0,75030,0,0,0,60002,0,0,168,29606,0,0,555,44886,9,0,495,64028,1,0,5,6062,0,0,220,1180032,0,0,0,912,0,0,39,91080,0,0,68,62510,1,0 +17-43071032-T-C,17,43071032,rs80357465,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1628Val,p.Met1628Val,c.4882A>G,missense_variant,Conflicting interpretations of pathogenicity,55306,,73,1614134,0.00004522548933359932,0,0,nfe,0.00004346,3.41,0.539,0.00,0.00,-0.339,0.210,0.00100,5,74952,0,0,1,60008,0,0,0,29604,0,0,0,44898,0,0,0,64042,0,0,0,6084,0,0,64,1180050,0,0,0,912,0,0,2,91094,0,0,1,62490,0,0 +17-43071033-T-C,17,43071033,rs1425743425,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Ala,p.Ala1627Ala,c.4881A>G,synonymous_variant,Likely benign,531530,,1,628774,0.0000015903965494756462,0,0,,,0.656,,0.0100,0.00,-0.261,,,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071034-G-A,17,43071034,rs764015648,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Val,p.Ala1627Val,c.4880C>T,missense_variant,Uncertain significance,927806,,1,1461882,6.840497386245948e-7,0,0,,,0.365,0.581,0.00,-0.0200,-0.0370,1.00,0.00100,0,33480,0,0,0,44724,0,0,1,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071035-C-T,17,43071035,rs774505084,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1627Thr,p.Ala1627Thr,c.4879G>A,missense_variant,Uncertain significance,441357,,1,628778,0.0000015903864320952704,0,0,,,2.01,0.623,0.0200,-0.0100,-0.440,0.290,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071036-A-G,17,43071036,rs1373902074,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1626Asn,p.Asn1626Asn,c.4878T>C,synonymous_variant,,,,1,628778,0.0000015903864320952704,0,0,,,0.196,,0.0100,0.00,-3.34,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071037-T-C,17,43071037,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1626Ser,p.Asn1626Ser,c.4877A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,0.100,0.450,0.0500,-0.0200,-1.15,0.770,0.0100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071041-A-T,17,43071041,rs2052392087,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1625Asn,p.Tyr1625Asn,c.4873T>A,missense_variant,Uncertain significance,838907,,1,152184,0.000006570993008463439,0,0,,,3.17,0.563,0.0200,0.00,-0.601,,,0,41446,0,0,0,15268,0,0,0,3468,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43071042-C-G,17,43071042,rs11555992,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>C,synonymous_variant,,,,1,1461866,6.840572254912557e-7,0,0,,,0.574,,0.0100,0.00,-0.137,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071042-C-T,17,43071042,rs11555992,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>A,synonymous_variant,Likely benign,491089,,1,1461866,6.840572254912557e-7,0,0,,,0.704,,0.0100,0.00,-0.137,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071042-C-A,17,43071042,rs11555992,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1624Gly,p.Gly1624Gly,c.4872G>T,synonymous_variant,Likely benign,697574,,1,1461866,6.840572254912557e-7,0,0,,,0.511,,0.00,0.00,-0.137,,,0,33478,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071046-G-C,17,43071046,rs80356862,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1623Gly,p.Ala1623Gly,c.4868C>G,missense_variant,Pathogenic/Likely pathogenic,37614,,5,1461868,0.000003420281448119803,0,0,nfe,0.0000013199999999999999,19.4,0.550,0.920,0.660,0.581,0.0800,0.00,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1111996,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43071054-A-G,17,43071054,rs750938749,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1620Thr,p.Thr1620Thr,c.4860T>C,synonymous_variant,Likely benign,240808,,30,1461872,0.000020521632536911577,0,0,nfe,0.0000183,2.77,,0.0100,0.00,0.909,,,1,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,29,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071056-T-C,17,43071056,rs8176219,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1620Ala,p.Thr1620Ala,c.4858A>G,missense_variant,Conflicting interpretations of pathogenicity,141333,,5,628782,0.000007951881574218091,0,0,sas,0.00001141,0.160,0.551,0.00,0.00,-1.80,0.230,0.00100,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,1,33098,0,0 +17-43071059-T-C,17,43071059,rs2153830785,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1619Ala,p.Thr1619Ala,c.4855A>G,missense_variant,Uncertain significance,1064261,,3,833092,0.000003601042862012839,0,0,nfe,4.4e-7,1.58,0.555,0.00,0.00,-0.559,0.590,0.00,0,15784,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43071060-A-T,17,43071060,rs750718476,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Gln,p.His1618Gln,c.4854T>A,missense_variant,,,,1,1461874,6.840534820374396e-7,0,0,,,2.74,0.577,0.00,0.00,-0.569,0.520,0.103,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071060-A-G,17,43071060,rs750718476,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618His,p.His1618His,c.4854T>C,synonymous_variant,Likely benign,479221,,2,1461874,0.0000013681069640748791,0,0,nfe,2.999999999999999e-7,0.260,,0.00,0.00,-0.569,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071061-T-C,17,43071061,rs1277159752,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Arg,p.His1618Arg,c.4853A>G,missense_variant,Uncertain significance,482919,,1,628780,0.0000015903813734533542,0,0,,,5.50,0.566,0.0100,0.00,0.651,0.470,0.0770,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071062-G-A,17,43071062,rs755920262,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1618Tyr,p.His1618Tyr,c.4852C>T,missense_variant,Uncertain significance,418981,,3,628770,0.000004771220000954244,0,0,nfe,9.5e-7,19.5,0.426,0.00,0.00,1.16,0.0600,0.145,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,2,350108,0,0,,,,,1,69792,0,0,0,33098,0,0 +17-43071063-A-G,17,43071063,rs786202627,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1617Ala,p.Ala1617Ala,c.4851T>C,synonymous_variant,Likely benign,186010,,1,628782,0.0000015903763148436182,0,0,,,4.93,,0.00,0.00,0.698,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071066-A-G,17,43071066,rs1480250917,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1616Ala,p.Ala1616Ala,c.4848T>C,synonymous_variant,Likely benign,825226,,2,985314,0.000002029809786524905,0,0,,,4.31,,0.00,0.00,0.655,,,0,57232,0,0,0,16260,0,0,0,8618,0,0,0,8834,0,0,0,10900,0,0,0,1936,0,0,2,829936,0,0,0,912,0,0,0,21294,0,0,0,29392,0,0 +17-43071067-G-A,17,43071067,rs2052395711,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1616Val,p.Ala1616Val,c.4847C>T,missense_variant,Uncertain significance,923712,,1,628778,0.0000015903864320952704,0,0,,,9.56,0.802,0.00,-0.0100,1.90,0.0500,0.00900,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071068-C-T,17,43071068,rs890599236,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1616Thr,p.Ala1616Thr,c.4846G>A,missense_variant,Uncertain significance,971555,,4,1614066,0.0000024782134063910645,0,0,afr,0.000017460000000000002,11.0,0.541,0.00,0.00,0.339,0.0600,0.00900,4,74916,0,0,0,59992,0,0,0,29604,0,0,0,44904,0,0,0,64044,0,0,0,6084,0,0,0,1180036,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 +17-43071069-A-G,17,43071069,rs144588397,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1615Ala,p.Ala1615Ala,c.4845T>C,synonymous_variant,Likely benign,184340,,36,1614060,0.00002230400356864057,0,0,nfe,0.00002074,4.24,,0.00,0.00,0.231,,,1,74924,0,0,0,59992,0,0,0,29606,0,0,0,44904,0,0,0,64036,0,0,0,6084,0,0,34,1180032,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 +17-43071071-C-T,17,43071071,rs80356987,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1615Thr,p.Ala1615Thr,c.4843G>A,missense_variant,Uncertain significance,55302,,10,1614058,0.000006195564223838301,0,0,nfe,0.00000429,15.7,0.529,0.00,-0.0100,-0.0190,0.0500,0.444,0,74908,0,0,0,59988,0,0,0,29606,0,0,0,44900,0,0,0,64042,0,0,0,6084,0,0,10,1180038,0,0,0,912,0,0,0,91090,0,0,0,62490,0,0 +17-43071073-G-A,17,43071073,rs766305255,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1614Leu,p.Pro1614Leu,c.4841C>T,missense_variant,Uncertain significance,216671,,8,628780,0.000012723050987626834,0,0,nfe,0.0000051799999999999995,14.3,0.411,0.00,-0.0100,0.613,0.0200,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,2,53142,0,0,0,4148,0,0,5,350108,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43071074-G-A,17,43071074,rs70953660,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1614Ser,p.Pro1614Ser,c.4840C>T,missense_variant,Benign,55301,,178,1614124,0.00011027653389702402,0,0,afr,0.0018128499999999997,3.73,0.544,0.00,0.00,0.419,0.150,0.00,156,75024,0,0,7,60006,0,0,0,29602,0,0,0,44892,0,0,0,64026,0,0,0,6062,0,0,4,1180006,0,0,0,910,0,0,0,91088,0,0,11,62508,0,0 +17-43071075-A-AGG,17,43071075,,A,AGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1614LeufsTer20,p.Pro1614LeufsTer20,c.4838_4839insCC,frameshift_variant,,,lof_flag,1,1461858,6.840609689860438e-7,0,0,,,22.7,,0.00,-0.0500,0.965,,,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111990,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43071075-A-T,17,43071075,rs2153833066,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613Arg,p.Ser1613Arg,c.4839T>A,missense_variant,,,,1,1461858,6.840609689860438e-7,0,0,,,20.0,0.497,0.00,0.00,0.965,0.0100,0.0780,0,33478,0,0,0,44722,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071076-CT-C,17,43071076,rs397509199,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613ValfsTer20,p.Ser1613ValfsTer20,c.4837del,frameshift_variant,Pathogenic,55299,lof_flag,1,628774,0.0000015903965494756462,0,0,,,22.7,,0.0200,-0.0600,0.389,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071076-C-T,17,43071076,rs1555580821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1613Asn,p.Ser1613Asn,c.4838G>A,missense_variant,Uncertain significance,481463,,1,628774,0.0000015903965494756462,0,0,,,5.89,0.353,0.00,0.00,0.389,0.130,0.00300,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071077-T-C,17,43071077,rs1799966,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1613Gly,p.Ser1613Gly,c.4837A>G,missense_variant,Benign,41827,,545124,1613902,0.3377677207166234,94249,0,sas,0.4950363199999999,8.64,0.252,0.00,-0.0100,0.0120,0.110,0.0380,17633,74948,2108,0,19373,59986,3184,0,10872,29604,1982,0,15945,44876,2884,0,25443,63974,5036,0,2258,6062,445,0,386657,1179962,63273,0,260,912,41,0,45434,91072,11636,0,21249,62506,3660,0 +17-43071077-T-A,17,43071077,rs1799966,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1613Cys,p.Ser1613Cys,c.4837A>T,missense_variant,Benign/Likely benign,37613,,49,1613874,0.00003036172588442468,0,0,afr,0.00047258000000000006,19.9,0.505,0.00,0.00,0.0120,0.0100,0.527,46,74846,0,0,0,59978,0,0,0,29604,0,0,0,44890,0,0,0,63982,0,0,0,6084,0,0,0,1180008,0,0,0,912,0,0,0,91084,0,0,3,62486,0,0 +17-43071078-C-G,17,43071078,rs747688901,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1612His,p.Gln1612His,c.4836G>C,missense_variant,Uncertain significance,185283,,2,628770,0.000003180813333969496,0,0,sas,0.00000475,6.12,0.495,0.00,-0.0100,1.63,0.220,0.0870,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350106,0,0,,,,,2,69796,0,0,0,33098,0,0 +17-43071078-C-A,17,43071078,rs747688901,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1612His,p.Gln1612His,c.4836G>T,missense_variant,Uncertain significance,2099260,,1,628770,0.000001590406666984748,0,0,,,6.52,0.495,0.00,-0.0100,1.63,0.220,0.0870,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071083-C-T,17,43071083,rs2052400387,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1611Thr,p.Ala1611Thr,c.4831G>A,missense_variant,,,,2,152154,0.000013144577204674212,0,0,nfe,0.00000488,3.37,0.603,0.00,0.00,-0.0300,,,0,41434,0,0,0,15264,0,0,0,3466,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,2,68026,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43071084-A-G,17,43071084,rs1555580852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1610Ser,p.Ser1610Ser,c.4830T>C,synonymous_variant,,,,1,833090,0.0000012003505023466853,0,0,,,4.82,,0.00,0.00,2.29,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43071089-CTGCAACTTTCAATTG-C,17,43071089,,CTGCAACTTTCAATTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604_Ala1608del,p.Gln1604_Ala1608del,c.4810_4824del,inframe_deletion,,,,1,628772,0.0000015904016082141062,0,0,,,10.5,,0.00,0.0100,1.14,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43071090-T-C,17,43071090,rs1555580860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Ala,p.Ala1608Ala,c.4824A>G,synonymous_variant,Likely benign,480887,,1,628774,0.0000015903965494756462,0,0,,,4.43,,0.00,-0.0100,1.26,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071091-G-T,17,43071091,rs80357072,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Glu,p.Ala1608Glu,c.4823C>A,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,4.09,0.576,0.00,0.00,0.585,0.530,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071092-C-T,17,43071092,rs1567775064,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1608Thr,p.Ala1608Thr,c.4822G>A,missense_variant,Uncertain significance,631142,,1,628776,0.0000015903914907693677,0,0,,,14.1,0.529,0.00,-0.0100,0.353,0.230,0.00600,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071092-CAACTTTCAATTGGGG-C,17,43071092,rs80359888,CAACTTTCAATTGGGG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1603_Val1607del,p.Pro1603_Val1607del,c.4807_4821del,inframe_deletion,Uncertain significance,37611,,15,628776,0.000023855872361540516,0,0,amr,0.00021098999999999998,10.5,,0.0100,0.0100,0.353,,,0,17694,0,0,15,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071093-A-G,17,43071093,rs1260740618,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1607Val,p.Val1607Val,c.4821T>C,synonymous_variant,Likely benign,628108,,1,152206,0.000006570043230884459,0,0,,,2.70,,0.00,-0.0100,1.30,,,0,41444,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,1,2094,0,0 +17-43071095-C-T,17,43071095,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1607Ile,p.Val1607Ile,c.4819G>A,missense_variant,,,,2,833088,0.0000024007067680725206,0,0,nfe,4.4e-7,18.8,0.475,0.0300,0.0200,4.96,0.0100,0.103,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761884,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43071096-T-A,17,43071096,rs2153836536,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1606Asn,p.Lys1606Asn,c.4818A>T,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,15.7,0.369,0.0600,0.0300,0.124,0.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761884,0,0,,,,,1,16458,0,0,0,27298,0,0 +17-43071098-T-C,17,43071098,rs80356943,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1606Glu,p.Lys1606Glu,c.4816A>G,missense_variant,Benign,37612,,50,1613986,0.00003097920304141424,0,0,nfe,0.00002907,13.4,0.464,0.00,-0.0100,4.86,0.0900,0.00,1,74914,0,0,0,59958,0,0,0,29606,0,0,0,44898,0,0,0,64032,0,0,0,6084,0,0,45,1180018,0,0,0,912,0,0,0,91082,0,0,4,62482,0,0 +17-43071099-C-T,17,43071099,rs1060504589,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1605Leu,p.Leu1605Leu,c.4815G>A,synonymous_variant,Likely benign,415603,,2,628740,0.0000031809651048128003,0,0,amr,0.000007580000000000001,1.29,,0.00,-0.0100,1.88,,,0,17694,0,0,2,43710,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43071101-A-G,17,43071101,rs80356833,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1605Leu,p.Leu1605Leu,c.4813T>C,synonymous_variant,Likely benign,55294,,71,1614088,0.000043987688403606245,0,0,afr,0.00049484,1.39,,0.00,0.00,0.121,,,48,75036,0,0,0,59984,0,0,1,29606,0,0,1,44882,0,0,0,64020,0,0,0,6062,0,0,15,1180004,0,0,0,910,0,0,3,91078,0,0,3,62506,0,0 +17-43071101-A-T,17,43071101,rs80356833,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1605Met,p.Leu1605Met,c.4813T>A,missense_variant,Uncertain significance,185823,,1,152144,0.000006572720580502681,0,0,,,7.25,0.575,0.00,0.00,0.121,,,0,41436,0,0,0,15270,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68024,0,0,0,910,0,0,0,4828,0,0,0,2088,0,0 +17-43071102-T-C,17,43071102,rs28897693,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1604Gln,p.Gln1604Gln,c.4812A>G,synonymous_variant,Benign,55293,,1766,1614140,0.0010940810586442316,16,0,sas,0.0035311900000000005,0.108,,0.00,0.00,-4.04,,,11,75048,0,0,16,59988,0,0,0,29602,0,0,20,44888,0,0,2,64034,0,0,2,6062,0,0,1302,1180018,5,0,0,912,0,0,352,91082,11,0,61,62506,0,0 +17-43071103-T-C,17,43071103,rs80357439,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604Arg,p.Gln1604Arg,c.4811A>G,missense_variant,Uncertain significance,55292,,3,1461826,0.000002052227830124789,0,0,nfe,2.999999999999999e-7,16.8,0.526,0.00,0.00,0.0830,0.120,0.00600,0,33480,0,0,0,44694,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,2,1111988,0,0,,,,,1,86252,0,0,0,60396,0,0 +17-43071106-G-C,17,43071106,rs1064794054,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1603Arg,p.Pro1603Arg,c.4808C>G,missense_variant,,,,1,833082,0.0000012003620291880032,0,0,,,21.4,0.581,0.00,0.00,2.39,0.0200,0.00300,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761878,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43071107-GA-G,17,43071107,rs886038036,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1604AsnfsTer2,p.Gln1604AsnfsTer2,c.4806del,frameshift_variant,Pathogenic,254457,lof_flag,1,1461822,6.840778152196368e-7,0,0,,,22.9,,0.00,-0.0500,0.997,,,0,33480,0,0,0,44694,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86250,0,0,0,60396,0,0 +17-43071111-T-G,17,43071111,rs886037794,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1601Asn,p.Lys1601Asn,c.4803A>C,missense_variant,,,,1,152216,0.0000065696116045619385,0,0,,,15.0,0.545,0.00,0.00,-0.0420,,,0,41460,0,0,0,15276,0,0,0,3466,0,0,0,5206,0,0,0,10620,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43071113-T-G,17,43071113,rs80357303,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1601Gln,p.Lys1601Gln,c.4801A>C,missense_variant,Uncertain significance,481187,,1,628772,0.0000015904016082141062,0,0,,,22.5,0.605,0.00,0.00,3.60,0.0200,0.416,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071116-A-G,17,43071116,rs775837744,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1600Leu,p.Leu1600Leu,c.4798T>C,synonymous_variant,Likely benign,427357,,9,628776,0.00001431352341692431,0,0,eas,0.00009030999999999997,0.487,,0.00,0.00,-0.751,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,7,36068,0,0,0,53140,0,0,0,4148,0,0,1,350106,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071117-T-C,17,43071117,rs749609930,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Ala,p.Ala1599Ala,c.4797A>G,synonymous_variant,Likely benign,1120970,,11,1461892,0.0000075244956535776925,0,0,nfe,0.00000531,0.836,,0.00,0.00,-2.96,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,11,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071118-G-A,17,43071118,rs749702730,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Val,p.Ala1599Val,c.4796C>T,missense_variant,Uncertain significance,825179,,4,1461888,0.0000027361877243673934,0,0,sas,0.000015830000000000003,17.6,0.540,0.00,-0.0100,1.15,0.0100,0.0260,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112008,0,0,,,,,4,86258,0,0,0,60396,0,0 +17-43071119-C-T,17,43071119,rs1597831380,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1599Thr,p.Ala1599Thr,c.4795G>A,missense_variant,Uncertain significance,663314,,2,628780,0.0000031807627469067084,0,0,sas,0.00000475,5.21,0.532,0.00,0.00,0.240,0.130,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,2,69798,0,0,0,33098,0,0 +17-43071120-A-T,17,43071120,rs2153837801,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1598Ser,p.Ser1598Ser,c.4794T>A,synonymous_variant,Likely benign,2021398,,1,833108,0.0000012003245677631232,0,0,,,5.30,,0.00,0.00,0.163,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071121-G-A,17,43071121,rs2153837843,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1598Phe,p.Ser1598Phe,c.4793C>T,missense_variant,Uncertain significance,1446083,,1,628778,0.0000015903864320952704,0,0,,,22.7,0.685,0.00,0.00,2.11,0.00,0.758,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071123-G-A,17,43071123,rs1555580935,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Thr,p.Thr1597Thr,c.4791C>T,synonymous_variant,Likely benign,481061,,1,628780,0.0000015903813734533542,0,0,,,0.474,,0.00,0.00,0.334,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071124-G-T,17,43071124,rs587781623,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Asn,p.Thr1597Asn,c.4790C>A,missense_variant,Uncertain significance,141272,,5,1461892,0.0000034202252970807693,0,0,sas,0.000015830000000000003,6.11,0.515,0.00,0.00,0.378,0.0900,0.0240,0,33480,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112012,0,0,,,,,4,86258,0,0,0,60396,0,0 +17-43071124-G-A,17,43071124,rs587781623,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Ile,p.Thr1597Ile,c.4790C>T,missense_variant,Uncertain significance,2585854,,1,1461892,6.840450594161539e-7,0,0,,,6.28,0.558,0.00,0.00,0.378,0.320,0.0240,0,33480,0,0,1,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071125-T-C,17,43071125,rs80357187,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1597Ala,p.Thr1597Ala,c.4789A>G,missense_variant,Conflicting interpretations of pathogenicity,55288,,2,1461888,0.0000013680938621836967,0,0,,,0.137,0.561,0.00,0.00,-1.73,0.170,0.00,1,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,0,1112012,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43071126-T-C,17,43071126,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1596Ser,p.Ser1596Ser,c.4788A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.47,,0.00,0.00,0.575,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43071130-G-A,17,43071130,rs1395897649,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1595Phe,p.Ser1595Phe,c.4784C>T,missense_variant,,,,3,1461886,0.0000020521436008006096,0,0,nfe,7.200000000000001e-7,16.1,0.516,0.00,-0.0100,0.931,0.0100,0.271,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071132-T-C,17,43071132,rs876659455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1594Pro,p.Pro1594Pro,c.4782A>G,synonymous_variant,Likely benign,231948,,1,628782,0.0000015903763148436182,0,0,,,3.90,,0.00,0.00,0.318,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071133-G-C,17,43071133,rs1301724072,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1594Arg,p.Pro1594Arg,c.4781C>G,missense_variant,,,,1,628782,0.0000015903763148436182,0,0,,,21.5,0.596,0.00,0.00,4.29,0.00,0.0770,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071137-T-C,17,43071137,rs397509197,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1593Val,p.Ile1593Val,c.4777A>G,missense_variant,Uncertain significance,55285,,1,628782,0.0000015903763148436182,0,0,,,0.0400,0.553,0.00,0.00,-1.26,0.540,0.0150,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071138-G-C,17,43071138,rs761925468,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Lys,p.Asn1592Lys,c.4776C>G,missense_variant,Conflicting interpretations of pathogenicity,183931,,5,1461888,0.0000034202346554592417,0,0,nfe,2.999999999999999e-7,5.22,0.383,0.00,0.00,-0.166,0.0100,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,2,5768,0,0,2,1112008,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43071139-T-C,17,43071139,rs786203699,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Ser,p.Asn1592Ser,c.4775A>G,missense_variant,Conflicting interpretations of pathogenicity,187395,,2,628782,0.0000031807526296872365,0,0,nfe,9.5e-7,0.0220,0.470,0.00,0.00,0.321,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,2,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071140-T-C,17,43071140,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592Asp,p.Asn1592Asp,c.4774A>G,missense_variant,,,,1,1461892,6.840450594161539e-7,0,0,,,14.0,0.391,0.00,0.00,0.766,0.0200,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071140-T-G,17,43071140,rs1567775261,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1592His,p.Asn1592His,c.4774A>C,missense_variant,Uncertain significance,584508,,1,1461892,6.840450594161539e-7,0,0,,,17.0,0.435,0.00,-0.0100,0.766,0.0100,0.0540,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,1,5768,0,0,0,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071143-C-T,17,43071143,rs587782825,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1591Ser,p.Gly1591Ser,c.4771G>A,missense_variant,Uncertain significance,142926,,11,1613984,0.000006815433114578583,0,0,nfe,0.000005,1.35,0.566,0.0100,0.0100,0.0630,0.660,0.00,0,74898,0,0,0,59978,0,0,0,29604,0,0,0,44896,0,0,0,64022,0,0,0,6084,0,0,11,1180016,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 +17-43071145-A-G,17,43071145,rs773524529,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1590Ala,p.Val1590Ala,c.4769T>C,missense_variant,Uncertain significance,479272,,1,628782,0.0000015903763148436182,0,0,,,10.0,0.498,0.00,0.00,0.0830,0.0300,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071147-A-C,17,43071147,rs587780864,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg1589Arg,p.Arg1589Arg,c.4767T>G,synonymous_variant,Likely benign,136550,,2,152194,0.000013141122514685205,0,0,afr,0.000008,0.789,,0.0500,0.0200,-0.482,,,2,41448,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43071148-C-T,17,43071148,rs80357341,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1589His,p.Arg1589His,c.4766G>A,missense_variant,Likely benign,55284,,25,1461890,0.00001710114988131802,0,0,sas,0.00009790999999999999,0.150,0.539,0.00,-0.0100,-2.27,1.00,0.00,0,33480,0,0,1,44724,0,0,1,26136,0,0,2,39698,0,0,0,53420,0,0,0,5768,0,0,7,1112010,0,0,,,,,14,86258,0,0,0,60396,0,0 +17-43071149-G-A,17,43071149,rs80357002,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1589Cys,p.Arg1589Cys,c.4765C>T,missense_variant,Conflicting interpretations of pathogenicity,55283,,19,1461884,0.000012996927252777923,0,0,sas,0.00003764999999999999,16.7,0.526,0.00,-0.0100,2.64,0.0200,0.00100,1,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,10,1112008,0,0,,,,,7,86258,0,0,1,60396,0,0 +17-43071150-A-G,17,43071150,rs753651115,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1588Ala,p.Ala1588Ala,c.4764T>C,synonymous_variant,Likely benign,184874,,6,1614076,0.0000037172970789479554,0,0,nfe,7.899999999999998e-7,4.61,,0.00,0.00,0.625,,,1,74936,0,0,0,59998,0,0,0,29608,0,0,0,44886,0,0,0,64032,0,0,1,6084,0,0,4,1180036,0,0,0,912,0,0,0,91096,0,0,0,62488,0,0 +17-43071150-A-T,17,43071150,rs753651115,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1588Ala,p.Ala1588Ala,c.4764T>A,synonymous_variant,Likely benign,231038,,2,1461888,0.0000013680938621836967,0,0,nfe,2.999999999999999e-7,4.08,,0.00,0.00,0.625,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071151-G-A,17,43071151,rs759314330,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1588Val,p.Ala1588Val,c.4763C>T,missense_variant,,,,7,1461884,0.000004788341619444497,0,0,sas,0.00002995,10.2,0.556,0.00,0.0100,1.34,0.0700,0.0100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,1,1112010,0,0,,,,,6,86258,0,0,0,60396,0,0 +17-43071154-G-A,17,43071154,rs397509195,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1587Leu,p.Ser1587Leu,c.4760C>T,missense_variant,,,,1,628782,0.0000015903763148436182,0,0,,,11.8,0.572,0.00,0.00,1.65,0.370,0.0380,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071155-A-G,17,43071155,rs2153869870,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1587Pro,p.Ser1587Pro,c.4759T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,2.93,0.605,0.00,0.00,0.616,1.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071156-C-A,17,43071156,rs1174774563,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1586Asp,p.Glu1586Asp,c.4758G>T,missense_variant,,,,4,985316,0.000004059611332810997,0,0,nfe,0.00000113,1.46,0.569,0.00,0.00,0.556,0.270,0.00100,0,57242,0,0,0,16266,0,0,0,8624,0,0,0,8830,0,0,0,10884,0,0,0,1936,0,0,4,829936,0,0,0,912,0,0,0,21294,0,0,0,29392,0,0 +17-43071157-T-G,17,43071157,rs765189603,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1586Ala,p.Glu1586Ala,c.4757A>C,missense_variant,,,,1,152224,0.000006569266344334665,0,0,,,13.6,0.604,0.00,0.00,0.0540,,,1,41462,0,0,0,15288,0,0,0,3470,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43071161-G-A,17,43071161,rs267604892,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1585Ser,p.Pro1585Ser,c.4753C>T,missense_variant,Uncertain significance,1742857,,1,833100,0.0000012003360941063497,0,0,,,15.7,0.561,0.00,0.00,1.86,0.0600,0.0380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071164-C-A,17,43071164,rs80357070,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1584Ser,p.Ala1584Ser,c.4750G>T,missense_variant,Likely benign,55279,,29,1614084,0.00001796684683077213,0,0,nfe,0.00001645,15.3,0.519,0.00,0.0100,0.856,0.130,0.0230,1,74946,0,0,0,59992,0,0,0,29608,0,0,0,44900,0,0,0,64028,0,0,0,6084,0,0,28,1180046,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 +17-43071166-C-T,17,43071166,rs752624544,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1583Lys,p.Arg1583Lys,c.4748G>A,missense_variant,Uncertain significance,230482,,8,1461882,0.000005472397908996759,0,0,eas,0.00009927999999999996,5.37,0.558,0.00,0.00,0.814,0.420,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,8,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071166-C-G,17,43071166,rs752624544,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1583Thr,p.Arg1583Thr,c.4748G>C,missense_variant,Uncertain significance,928766,,1,1461882,6.840497386245948e-7,0,0,,,17.0,0.586,0.00,0.00,0.814,0.0200,0.0770,0,33480,0,0,0,44724,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112010,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43071170-C-A,17,43071170,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1582Tyr,p.Asp1582Tyr,c.4744G>T,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,20.5,0.558,0.0300,0.0500,2.80,0.00,0.254,1,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071171-T-C,17,43071171,rs397509194,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Glu,p.Glu1581Glu,c.4743A>G,synonymous_variant,Likely benign,186507,,1,628776,0.0000015903914907693677,0,0,,,3.71,,0.00,-0.0100,2.31,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071173-C-G,17,43071173,rs397509193,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Gln,p.Glu1581Gln,c.4741G>C,missense_variant,Uncertain significance,2450674,,2,1461882,0.0000013680994772491897,0,0,sas,0.00000385,11.2,0.607,0.00,0.0100,0.904,0.190,0.00600,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,2,86258,0,0,0,60396,0,0 +17-43071173-C-T,17,43071173,rs397509193,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1581Lys,p.Glu1581Lys,c.4741G>A,missense_variant,,,,1,1461882,6.840497386245948e-7,0,0,,,8.32,0.600,0.00,0.0100,0.904,0.160,0.0410,0,33480,0,0,0,44724,0,0,0,26136,0,0,1,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071174-A-G,17,43071174,rs777297026,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Ser,p.Ser1580Ser,c.4740T>C,synonymous_variant,Likely benign,427310,,1,628778,0.0000015903864320952704,0,0,,,0.747,,0.00,0.00,0.0590,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071175-G-T,17,43071175,rs80357411,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Tyr,p.Ser1580Tyr,c.4739C>A,missense_variant,Uncertain significance,431267,,1,628774,0.0000015903965494756462,0,0,,,17.9,0.554,0.00,0.00,1.79,0.0100,0.687,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071175-G-A,17,43071175,rs80357411,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1580Phe,p.Ser1580Phe,c.4739C>T,missense_variant,Uncertain significance,55275,,1,152232,0.000006568921120395186,0,0,,,19.2,0.553,0.00,0.0100,1.79,0.0100,0.598,0,41458,0,0,0,15278,0,0,0,3470,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43071176-A-G,17,43071176,rs2153882019,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1580Pro,p.Ser1580Pro,c.4738T>C,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,7.98,0.620,0.00,0.00,-0.117,0.200,0.374,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071179-G-C,17,43071179,rs145466894,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1579Ala,p.Pro1579Ala,c.4735C>G,missense_variant,Conflicting interpretations of pathogenicity,142301,,7,1614060,0.000004336889582791222,0,0,afr,0.00004372999999999998,6.78,0.622,0.00,0.00,0.359,0.110,0.00500,7,74922,0,0,0,60004,0,0,0,29606,0,0,0,44890,0,0,0,64024,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43071179-G-A,17,43071179,rs145466894,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1579Ser,p.Pro1579Ser,c.4735C>T,missense_variant,Uncertain significance,1055766,,3,1614060,0.000001858666964053381,0,0,,,2.63,0.585,0.00,0.0100,0.359,0.110,0.00300,0,74922,0,0,0,60004,0,0,0,29606,0,0,0,44890,0,0,3,64024,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43071181-T-C,17,43071181,rs80356930,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1578Gly,p.Asp1578Gly,c.4733A>G,missense_variant,Conflicting interpretations of pathogenicity,55274,,1,833108,0.0000012003245677631232,0,0,,,18.2,0.601,0.00,-0.0100,1.59,0.0200,0.169,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071184-G-A,17,43071184,rs273901741,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1577Phe,p.Ser1577Phe,c.4730C>T,missense_variant,Uncertain significance,491086,,1,1461880,6.840506744739651e-7,0,0,,,12.9,0.577,0.00,0.0100,1.42,0.100,0.00500,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43071184-G-T,17,43071184,rs273901741,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1577Tyr,p.Ser1577Tyr,c.4730C>A,missense_variant,Conflicting interpretations of pathogenicity,125729,,7,1614096,0.000004336792854947909,1,0,sas,0.0000036500000000000006,19.9,0.574,0.00,0.00,1.42,0.0800,0.257,0,74942,0,0,0,60008,0,0,0,29606,0,0,0,44896,0,0,0,64034,0,0,0,6084,0,0,5,1180036,0,0,0,912,0,0,2,91088,1,0,0,62490,0,0 +17-43071185-A-G,17,43071185,rs80356909,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1577Pro,p.Ser1577Pro,c.4729T>C,missense_variant,Benign/Likely benign,55272,,134,1614110,0.00008301788601768157,0,0,eas,0.00253178,18.4,0.559,0.00,0.00,1.42,0.210,0.0100,0,74950,0,0,1,60002,0,0,0,29604,0,0,132,44898,0,0,0,64032,0,0,0,6084,0,0,0,1180052,0,0,0,912,0,0,0,91086,0,0,1,62490,0,0 +17-43071186-T-C,17,43071186,rs1567775405,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1576Glu,p.Glu1576Glu,c.4728A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,3.09,,0.00,0.00,-0.112,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43071190-G-C,17,43071190,rs80357052,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1575Arg,p.Pro1575Arg,c.4724C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,23.2,0.538,0.00,0.00,2.93,0.00,0.0740,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43071192-GT-G,17,43071192,,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1574AlafsTer27,p.Asp1574AlafsTer27,c.4721del,frameshift_variant,,,lof_flag,1,1461874,6.840534820374396e-7,0,0,,,24.5,,0.00,-0.0200,0.202,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071192-G-A,17,43071192,rs2153887534,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1574Asp,p.Asp1574Asp,c.4722C>T,synonymous_variant,Likely benign,1742669,,1,1461874,6.840534820374396e-7,0,0,,,1.24,,0.00,0.00,0.202,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53408,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43071197-C-G,17,43071197,rs1188628175,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1573His,p.Asp1573His,c.4717G>C,missense_variant,Uncertain significance,569880,,1,152188,0.000006570820301206403,0,0,,,10.4,0.605,0.00,-0.0100,1.30,0.0900,0.00300,1,41454,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 +17-43071197-C-T,17,43071197,rs1188628175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1573Asn,p.Asp1573Asn,c.4717G>A,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,11.1,0.399,0.00,0.0100,1.30,0.260,0.0380,0,17694,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53136,0,0,0,4148,0,0,0,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071201-G-C,17,43071201,rs768945711,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1571Leu,p.Phe1571Leu,c.4713C>G,missense_variant,Uncertain significance,481193,,1,628774,0.0000015903965494756462,0,0,,,23.1,0.598,0.00,0.00,2.18,0.0600,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53134,0,0,0,4148,0,0,0,350108,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43071202-A-G,17,43071202,rs273901740,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1571Ser,p.Phe1571Ser,c.4712T>C,missense_variant,Uncertain significance,55268,,3,1461884,0.000002052146408333356,0,0,nfe,7.200000000000001e-7,25.4,0.676,0.00,0.00,6.33,0.00,0.00300,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53410,0,0,0,5768,0,0,3,1112012,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071204-G-A,17,43071204,rs786201839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1570Leu,p.Leu1570Leu,c.4710C>T,synonymous_variant,Likely benign,184980,,35,1614106,0.000021683829934341363,0,0,nfe,0.00002153,3.17,,0.00,0.00,0.873,,,0,74940,0,0,0,60010,0,0,0,29608,0,0,0,44900,0,0,0,64032,0,0,0,6084,0,0,35,1180038,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 +17-43071206-G-C,17,43071206,rs147703239,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1570Val,p.Leu1570Val,c.4708C>G,missense_variant,,,,6,833104,0.0000072019819854423935,0,0,nfe,0.0000019200000000000003,22.6,0.575,0.00,0.00,7.01,0.240,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761900,0,0,,,,,0,16460,0,0,1,27296,0,0 +17-43071207-G-A,17,43071207,rs2153892782,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Ser,p.Ser1569Ser,c.4707C>T,synonymous_variant,Likely benign,1742574,,1,628768,0.0000015904117257875718,0,0,,,6.07,,0.00,0.00,0.922,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53132,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071208-C-G,17,43071208,rs1328549834,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Thr,p.Ser1569Thr,c.4706G>C,missense_variant,,,,2,628774,0.0000031807930989512924,0,0,,,17.8,0.598,0.00,0.00,1.64,0.0500,0.0150,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53136,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071209-T-A,17,43071209,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1569Cys,p.Ser1569Cys,c.4705A>T,missense_variant,,,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,19.0,0.584,0.00,-0.0100,0.981,0.0100,0.747,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43071212-T-C,17,43071212,rs80357119,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1568Val,p.Ile1568Val,c.4702A>G,missense_variant,Uncertain significance,55265,,4,1461884,0.0000027361952111111416,0,0,nfe,7.200000000000001e-7,11.1,0.499,0.00,0.00,-0.131,0.330,0.00,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53412,0,0,0,5768,0,0,3,1112010,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43071215-C-T,17,43071215,rs568753972,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1567Arg,p.Gly1567Arg,c.4699G>A,missense_variant,Uncertain significance,489723,,8,1614164,0.000004956125895509998,0,0,sas,0.000028630000000000002,23.7,0.711,0.00,-0.0200,4.21,0.0300,0.223,0,75034,0,0,0,60024,0,0,0,29604,0,0,0,44890,0,0,0,64020,0,0,0,6062,0,0,1,1180028,0,0,0,912,0,0,6,91082,0,0,1,62508,0,0 +17-43071216-A-G,17,43071216,rs1246456207,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1566Ser,p.Ser1566Ser,c.4698T>C,synonymous_variant,Likely benign,1656301,,3,628768,0.000004771235177362716,0,0,sas,0.00001141,8.18,,0.00,0.00,1.32,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53128,0,0,0,4148,0,0,0,350108,0,0,,,,,3,69798,0,0,0,33098,0,0 +17-43071217-G-T,17,43071217,rs1060502325,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1566Tyr,p.Ser1566Tyr,c.4697C>A,missense_variant,Uncertain significance,409298,,1,628762,0.0000015904269023891392,0,0,,,24.3,0.739,0.00,0.00,6.96,0.00,0.0370,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53122,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071223-A-G,17,43071223,rs56119278,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1564Pro,p.Leu1564Pro,c.4691T>C,missense_variant,Benign,55262,,168,1614174,0.0001040779990261273,1,0,afr,0.00187466,20.9,0.554,0.00,0.00,0.339,0.110,0.221,161,75050,1,0,2,60026,0,0,0,29606,0,0,0,44888,0,0,0,64030,0,0,0,6062,0,0,0,1180006,0,0,0,912,0,0,0,91088,0,0,5,62506,0,0 +17-43071224-G-A,17,43071224,rs1597831916,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1564Leu,p.Leu1564Leu,c.4690C>T,synonymous_variant,Likely benign,825102,,5,1461842,0.0000034203422804926934,0,0,nfe,0.0000013199999999999999,3.25,,0.00,0.00,1.20,,,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53396,0,0,0,5768,0,0,5,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43071225-G-C,17,43071225,rs80357433,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1563Ter,p.Tyr1563Ter,c.4689C>G,stop_gained,Pathogenic,37607,lof_flag,5,1614030,0.000003097835851873881,0,0,nfe,0.0000012399999999999998,37.0,,0.0100,-0.0300,1.16,,,0,74924,0,0,0,60008,0,0,0,29606,0,0,0,44900,0,0,0,64018,0,0,0,6084,0,0,5,1180002,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43071229-G-A,17,43071229,rs80357096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1562Leu,p.Pro1562Leu,c.4685C>T,missense_variant,Uncertain significance,55261,,1,628738,0.0000015904876116919926,0,0,,,24.9,0.669,0.00,0.00,4.80,0.00,0.0260,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53098,0,0,0,4148,0,0,1,350108,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071231-G-A,17,43071231,rs878853265,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1561Thr,p.Thr1561Thr,c.4683C>T,synonymous_variant,Likely benign,230952,,2,1461764,0.000001368209916238189,0,0,,,3.43,,0.00,0.00,-0.445,,,0,33478,0,0,1,44724,0,0,0,26136,0,0,0,39700,0,0,0,53366,0,0,0,5768,0,0,1,1111938,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43071232-G-A,17,43071232,rs56158747,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1561Ile,p.Thr1561Ile,c.4682C>T,missense_variant,Benign/Likely benign,55259,,376,1614076,0.00023295061694740522,2,0,afr,0.00386701,22.8,0.645,0.00,0.00,0.697,0.00,0.266,319,75034,1,0,33,60022,1,0,0,29604,0,0,0,44894,0,0,0,63980,0,0,0,6062,0,0,1,1179968,0,0,0,912,0,0,3,91088,0,0,20,62512,0,0 +17-43071232-G-T,17,43071232,rs56158747,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1561Asn,p.Thr1561Asn,c.4682C>A,missense_variant,Uncertain significance,246219,,1,152324,0.000006564953651427221,0,0,,,22.8,0.555,0.0100,0.00,0.697,0.00,0.0770,0,41562,0,0,0,15298,0,0,0,3468,0,0,0,5196,0,0,0,10618,0,0,0,294,0,0,0,68028,0,0,0,912,0,0,1,4832,0,0,0,2116,0,0 +17-43071235-C-A,17,43071235,rs564757581,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1560Val,p.Gly1560Val,c.4679G>T,missense_variant,Uncertain significance,142627,,3,985186,0.0000030451102634426394,0,0,amr,0.00004971,21.5,0.666,0.0500,0.0100,1.28,0.0200,0.0380,0,57308,0,0,3,16274,0,0,0,8618,0,0,0,8808,0,0,0,10874,0,0,0,1914,0,0,0,829798,0,0,0,912,0,0,0,21274,0,0,0,29406,0,0 +17-43071237-C-G,17,43071237,rs587781876,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1559Asp,p.Glu1559Asp,c.4677G>C,missense_variant,Uncertain significance,141610,,3,832912,0.0000036018210807384215,0,0,nfe,0.00000105,15.9,0.528,0.00,0.00,0.432,0.0500,0.00,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,3,761722,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43071238-T-A,17,43071238,rs2153902423,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1559Val,p.Glu1559Val,c.4676A>T,missense_variant,Uncertain significance,1354612,,1,628698,0.0000015905888041635253,0,0,,,23.1,0.622,0.00,0.0300,2.91,0.170,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53062,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43071239-C-T,17,43071239,rs80358008,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-1G>A,,c.4676-1G>A,splice_acceptor_variant,Pathogenic,125725,,1,628688,0.0000015906141042933855,0,0,,,33.0,,1.00,-0.880,4.98,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53052,0,0,0,4148,0,0,1,350106,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43071244-A-G,17,43071244,rs184372626,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-6T>C,,c.4676-6T>C,splice_region_variant,,,,1,152332,0.000006564608880602893,0,0,,,14.2,,0.0600,0.410,2.41,,,0,41584,0,0,0,15294,0,0,0,3470,0,0,1,5188,0,0,0,10616,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2114,0,0 +17-43071245-G-A,17,43071245,rs80358005,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-7C>T,,c.4676-7C>T,splice_region_variant,Benign/Likely benign,37606,,83,1613304,0.00005144721639567,0,0,nfe,0.00005795,11.8,,0.00,0.00,1.92,,,0,74900,0,0,0,60008,0,0,0,29604,0,0,0,44894,0,0,0,63888,0,0,0,6080,0,0,83,1179476,0,0,0,912,0,0,0,91072,0,0,0,62470,0,0 +17-43071246-G-A,17,43071246,rs80358021,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-8C>T,,c.4676-8C>T,splice_region_variant,Likely benign,1652797,,1,1460884,6.845170458434756e-7,0,0,,,7.74,,0.00,-0.0100,0.653,,,0,33464,0,0,0,44724,0,0,0,26130,0,0,0,39696,0,0,0,53260,0,0,0,5764,0,0,1,1111242,0,0,,,,,0,86234,0,0,0,60370,0,0 +17-43071246-G-C,17,43071246,rs80358021,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-8C>G,,c.4676-8C>G,splice_region_variant,Conflicting interpretations of pathogenicity,125727,,74,1613080,0.0000458749721030575,0,0,nfe,0.00002395,9.26,,0.00,0.0200,0.653,,,0,74914,0,0,0,60000,0,0,0,29600,0,0,0,44898,0,0,30,63876,0,0,0,6078,0,0,38,1179276,0,0,0,912,0,0,0,91064,0,0,6,62462,0,0 +17-43071249-T-C,17,43071249,rs80358088,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-11A>G,,c.4676-11A>G,intron_variant,Likely benign,125724,,16,1460406,0.000010955857480727962,0,0,nfe,0.00000731,1.59,,0.00,0.0200,-1.09,,,0,33440,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,2,53226,0,0,0,5764,0,0,14,1110842,0,0,,,,,0,86238,0,0,0,60354,0,0 +17-43071250-G-A,17,43071250,rs1380281979,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-12C>T,,c.4676-12C>T,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,7.42,,0.00,0.00,-0.256,,,0,41430,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43071251-G-C,17,43071251,rs2153903443,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-13C>G,,c.4676-13C>G,intron_variant,,,,2,831594,0.000002405019757237306,0,0,nfe,4.4e-7,1.01,,0.00,0.0300,0.326,,,0,15748,0,0,0,984,0,0,0,5142,0,0,0,3618,0,0,0,274,0,0,0,1616,0,0,2,760530,0,0,,,,,0,16426,0,0,0,27256,0,0 +17-43071254-G-T,17,43071254,rs80358067,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-16C>A,,c.4676-16C>A,intron_variant,,,,1,1459272,6.852732047212583e-7,0,0,,,1.88,,0.00,-0.0100,0.174,,,1,33426,0,0,0,44722,0,0,0,26116,0,0,0,39688,0,0,0,53128,0,0,0,5764,0,0,0,1109904,0,0,,,,,0,86192,0,0,0,60332,0,0 +17-43071254-G-C,17,43071254,rs80358067,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-16C>G,,c.4676-16C>G,intron_variant,Benign/Likely benign,91634,,22,1611450,0.000013652300722951379,0,0,nfe,0.00001146,1.83,,0.00,0.0100,0.174,,,0,74854,0,0,0,59998,0,0,0,29588,0,0,0,44894,0,0,0,63742,0,0,0,6080,0,0,21,1177940,0,0,0,912,0,0,0,91016,0,0,1,62426,0,0 +17-43071255-A-G,17,43071255,rs1436309521,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-17T>C,,c.4676-17T>C,intron_variant,,,,2,1458990,0.0000013708113146765913,0,0,nfe,2.999999999999999e-7,14.4,,0.100,0.0200,0.253,,,0,33414,0,0,0,44722,0,0,0,26112,0,0,0,39690,0,0,0,53158,0,0,0,5764,0,0,2,1109624,0,0,,,,,0,86194,0,0,0,60312,0,0 +17-43071256-A-G,17,43071256,rs2153903782,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-18T>C,,c.4676-18T>C,intron_variant,Likely benign,1108971,,1,829608,0.000001205388569059122,0,0,,,8.96,,0.0100,0.0100,0.461,,,0,15708,0,0,0,982,0,0,0,5126,0,0,0,3606,0,0,0,274,0,0,0,1616,0,0,1,758744,0,0,,,,,0,16376,0,0,0,27176,0,0 +17-43071261-A-G,17,43071261,rs2153904185,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-23T>C,,c.4676-23T>C,intron_variant,,,,3,1454432,0.0000020626608875492287,0,0,nfe,7.200000000000001e-7,13.2,,0.120,0.0200,2.04,,,0,33326,0,0,0,44714,0,0,0,26092,0,0,0,39664,0,0,0,52974,0,0,0,5762,0,0,3,1105602,0,0,,,,,0,86118,0,0,0,60180,0,0 +17-43071263-T-C,17,43071263,rs759352570,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-25A>G,,c.4676-25A>G,intron_variant,,,,6,1605740,0.00000373659496556105,0,0,nfe,0.00000184,11.4,,0.340,0.0900,-0.0370,,,0,74722,0,0,0,59988,0,0,0,29562,0,0,0,44858,0,0,0,63550,0,0,0,6076,0,0,6,1172910,0,0,0,912,0,0,0,90924,0,0,0,62238,0,0 +17-43071264-T-G,17,43071264,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-26A>C,,c.4676-26A>C,intron_variant,,,,1,825152,0.0000012118979291088187,0,0,,,5.84,,0.120,0.0400,-0.148,,,0,15606,0,0,0,972,0,0,0,5106,0,0,0,3584,0,0,0,274,0,0,0,1610,0,0,1,754660,0,0,,,,,0,16300,0,0,0,27040,0,0 +17-43071265-T-A,17,43071265,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-27A>T,,c.4676-27A>T,intron_variant,,,,1,1452528,6.884548869281694e-7,0,0,,,7.07,,0.00,0.00,0.187,,,0,33274,0,0,0,44710,0,0,0,26086,0,0,1,39652,0,0,0,52822,0,0,0,5758,0,0,0,1104050,0,0,,,,,0,86074,0,0,0,60102,0,0 +17-43071267-C-T,17,43071267,rs2153904582,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-29G>A,,c.4676-29G>A,intron_variant,,,,1,628084,0.0000015921437259984334,0,0,,,0.0260,,0.00,-0.0100,-2.83,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36070,0,0,0,52472,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43071269-C-T,17,43071269,rs2153904714,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-31G>A,,c.4676-31G>A,intron_variant,,,,1,822572,0.0000012156990512684604,0,0,,,2.73,,0.00,0.00,-0.578,,,0,15544,0,0,0,964,0,0,0,5078,0,0,0,3566,0,0,0,274,0,0,0,1604,0,0,1,752366,0,0,,,,,0,16222,0,0,0,26954,0,0 +17-43071271-A-G,17,43071271,rs1258487831,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-33T>C,,c.4676-33T>C,intron_variant,,,,1,627884,0.0000015926508718170872,0,0,,,9.62,,0.0600,0.0200,0.315,,,0,17694,0,0,1,43738,0,0,0,20984,0,0,0,36070,0,0,0,52284,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69788,0,0,0,33090,0,0 +17-43071272-C-A,17,43071272,rs369549959,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-34G>T,,c.4676-34G>T,intron_variant,,,,1,1447414,6.908873342388563e-7,0,0,,,2.42,,0.00,0.00,0.707,,,0,33180,0,0,0,44700,0,0,0,26038,0,0,0,39620,0,0,0,52508,0,0,0,5752,0,0,1,1099712,0,0,,,,,0,85958,0,0,0,59946,0,0 +17-43071272-C-T,17,43071272,rs369549959,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-34G>A,,c.4676-34G>A,intron_variant,,,,28,1599444,0.00001750608336396898,0,0,nfe,0.00001041,3.06,,0.00,0.00,0.707,,,0,74556,0,0,0,59958,0,0,3,29504,0,0,1,44822,0,0,0,63084,0,0,0,6068,0,0,19,1167724,0,0,0,912,0,0,2,90780,0,0,3,62036,0,0 +17-43071273-G-T,17,43071273,rs1162815279,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>A,,c.4676-35C>A,intron_variant,,,,2,1445386,0.0000013837134163469135,0,0,nfe,2.999999999999999e-7,4.22,,0.00,0.00,0.704,,,0,33124,0,0,0,44700,0,0,0,26040,0,0,0,39606,0,0,0,52288,0,0,0,5746,0,0,2,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 +17-43071273-G-C,17,43071273,rs1162815279,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>G,,c.4676-35C>G,intron_variant,,,,1,1445386,6.918567081734568e-7,0,0,,,4.08,,0.00,0.00,0.704,,,0,33124,0,0,0,44700,0,0,0,26040,0,0,1,39606,0,0,0,52288,0,0,0,5746,0,0,0,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 +17-43071273-G-A,17,43071273,rs1162815279,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-35C>T,,c.4676-35C>T,intron_variant,,,,2,1445386,0.0000013837134163469135,0,0,amr,0.000007420000000000001,4.19,,0.00,0.00,0.704,,,0,33124,0,0,2,44700,0,0,0,26040,0,0,0,39606,0,0,0,52288,0,0,0,5746,0,0,0,1098064,0,0,,,,,0,85926,0,0,0,59892,0,0 +17-43071275-T-A,17,43071275,rs2153905022,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-37A>T,,c.4676-37A>T,intron_variant,,,,1,1445116,6.919859720603744e-7,0,0,,,7.58,,0.00,0.00,-0.964,,,0,33110,0,0,0,44704,0,0,0,26024,0,0,0,39596,0,0,0,52264,0,0,0,5752,0,0,0,1097856,0,0,,,,,1,85934,0,0,0,59876,0,0 +17-43071279-T-A,17,43071279,rs1462882793,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-41A>T,,c.4676-41A>T,intron_variant,,,,2,779694,0.0000025651088760462436,0,0,,,8.11,,0.00,0.00,0.0120,,,0,59254,0,0,2,59030,0,0,0,24452,0,0,0,41256,0,0,0,62468,0,0,0,4440,0,0,0,418086,0,0,0,912,0,0,0,74596,0,0,0,35200,0,0 +17-43071280-G-A,17,43071280,rs752640996,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-42C>T,,c.4676-42C>T,intron_variant,,,,17,1441688,0.000011791733024066233,0,0,nfe,0.00000774,5.88,,0.00,0.00,0.348,,,0,33070,0,0,0,44694,0,0,0,26014,0,0,0,39586,0,0,0,51994,0,0,2,5748,0,0,15,1094964,0,0,,,,,0,85848,0,0,0,59770,0,0 +17-43071281-T-G,17,43071281,rs1394855795,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-43A>C,,c.4676-43A>C,intron_variant,,,,5,627244,0.00000797137955883197,0,0,,,8.41,,0.00,0.00,0.421,,,0,17694,0,0,0,43732,0,0,0,20984,0,0,0,36066,0,0,5,51720,0,0,0,4146,0,0,0,350054,0,0,,,,,0,69762,0,0,0,33086,0,0 +17-43071282-T-G,17,43071282,rs989129232,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-44A>C,,c.4676-44A>C,intron_variant,Likely benign,803410,,1,1442434,6.932726211389914e-7,0,0,,,9.90,,0.00,0.00,1.34,,,0,33038,0,0,0,44696,0,0,0,26020,0,0,0,39604,0,0,0,51930,0,0,0,5752,0,0,1,1095688,0,0,,,,,0,85868,0,0,0,59838,0,0 +17-43071282-T-C,17,43071282,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-44A>G,,c.4676-44A>G,intron_variant,,,,1,1442432,6.932735823941787e-7,0,0,,,10.4,,0.0600,0.0200,1.34,,,0,33038,0,0,0,44696,0,0,0,26020,0,0,0,39604,0,0,0,51928,0,0,0,5752,0,0,1,1095688,0,0,,,,,0,85868,0,0,0,59838,0,0 +17-43071288-A-G,17,43071288,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-50T>C,,c.4676-50T>C,intron_variant,,,,1,809592,0.0000012351900710481328,0,0,,,10.7,,0.0800,0.0300,1.28,,,0,15214,0,0,0,952,0,0,0,5000,0,0,0,3500,0,0,0,270,0,0,0,1594,0,0,1,740524,0,0,,,,,0,15992,0,0,0,26546,0,0 +17-43071290-A-G,17,43071290,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-52T>C,,c.4676-52T>C,intron_variant,,,,1,626428,0.0000015963526534573806,0,0,,,11.2,,0.170,0.0600,-0.0810,,,0,17692,0,0,0,43718,0,0,1,20982,0,0,0,36064,0,0,0,51038,0,0,0,4134,0,0,0,349994,0,0,,,,,0,69728,0,0,0,33078,0,0 +17-43071291-A-T,17,43071291,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-53T>A,,c.4676-53T>A,intron_variant,,,,1,626326,0.0000015966126266512967,0,0,,,6.36,,0.00,0.00,-0.0190,,,0,17690,0,0,0,43720,0,0,0,20982,0,0,0,36060,0,0,0,50960,0,0,0,4130,0,0,0,349984,0,0,,,,,0,69724,0,0,1,33076,0,0 +17-43071292-AG-A,17,43071292,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-55del,,c.4676-55del,intron_variant,,,,1,626232,0.000001596852284776249,0,0,,,0.0230,,0.00,0.0100,-1.03,,,0,17686,0,0,0,43708,0,0,0,20982,0,0,0,36058,0,0,0,50888,0,0,0,4134,0,0,0,349988,0,0,,,,,1,69710,0,0,0,33078,0,0 +17-43071293-G-A,17,43071293,rs545107728,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-55C>T,,c.4676-55C>T,intron_variant,Benign,264790,,481,1579362,0.0003045533576216219,1,0,afr,0.005375130000000001,0.0580,,0.00,0.00,-1.59,,,433,74296,1,0,23,59926,0,0,0,29416,0,0,0,44712,0,0,0,61568,0,0,0,5998,0,0,6,1150706,0,0,0,912,0,0,0,90352,0,0,19,61476,0,0 +17-43071295-T-A,17,43071295,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-57A>T,,c.4676-57A>T,intron_variant,,,,1,625568,0.0000015985472402680445,0,0,,,5.14,,0.00,0.00,0.729,,,0,17684,0,0,0,43662,0,0,0,20982,0,0,0,36056,0,0,1,50412,0,0,0,4128,0,0,0,349900,0,0,,,,,0,69688,0,0,0,33056,0,0 +17-43071296-C-T,17,43071296,rs2153905372,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-58G>A,,c.4676-58G>A,intron_variant,,,,1,625452,0.0000015988437162244265,0,0,,,1.98,,0.00,0.00,0.398,,,0,17684,0,0,0,43660,0,0,0,20982,0,0,0,36054,0,0,0,50390,0,0,0,4130,0,0,0,349882,0,0,,,,,1,69618,0,0,0,33052,0,0 +17-43071299-G-T,17,43071299,rs1003412989,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4676-61C>A,,c.4676-61C>A,intron_variant,,,,1,152152,0.000006572374993427625,0,0,,,0.581,,0.00,0.00,0.658,,,0,41434,0,0,0,15264,0,0,0,3470,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43071299-GTC-G,17,43071299,,GTC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-63_4676-62del,,c.4676-63_4676-62del,intron_variant,,,,1,1419058,7.046928314417028e-7,0,0,,,0.574,,0.00,0.00,0.658,,,0,32564,0,0,0,44534,0,0,0,25884,0,0,1,39482,0,0,0,50170,0,0,0,5684,0,0,0,1076342,0,0,,,,,0,85304,0,0,0,59094,0,0 +17-43071304-T-G,17,43071304,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-66A>C,,c.4676-66A>C,intron_variant,,,,3,1407384,0.0000021316143994815915,0,0,nfe,7.5e-7,1.31,,0.00,0.0100,0.00500,,,0,32296,0,0,0,44330,0,0,0,25798,0,0,0,39426,0,0,0,49250,0,0,0,5656,0,0,3,1066960,0,0,,,,,0,84964,0,0,0,58704,0,0 +17-43071307-T-C,17,43071307,rs1164024851,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4676-69A>G,,c.4676-69A>G,intron_variant,,,,34,1550150,0.000021933361287617328,0,0,sas,0.0002597100000000001,1.30,,0.00,0.00,0.0630,,,0,73582,0,0,0,59510,0,0,0,29190,0,0,0,44582,0,0,0,59460,0,0,0,5958,0,0,0,1126836,0,0,0,912,0,0,32,89600,0,0,2,60520,0,0 +17-43071307-T-A,17,43071307,rs1164024851,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-69A>T,,c.4676-69A>T,intron_variant,,,,2,1398004,0.000001430611071212958,0,0,nfe,3.1e-7,1.66,,0.160,0.0500,0.0630,,,0,32148,0,0,0,44242,0,0,0,25722,0,0,0,39380,0,0,0,48842,0,0,0,5642,0,0,2,1058826,0,0,,,,,0,84772,0,0,0,58430,0,0 +17-43071309-A-G,17,43071309,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-71T>C,,c.4676-71T>C,intron_variant,,,,2,1377346,0.000001452067962588921,0,0,,,8.78,,0.00,0.00,2.26,,,0,31702,0,0,1,43954,0,0,0,25600,0,0,0,39292,0,0,0,47892,0,0,0,5590,0,0,1,1041356,0,0,,,,,0,84152,0,0,0,57808,0,0 +17-43071310-G-A,17,43071310,rs2153906713,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-72C>T,,c.4676-72C>T,intron_variant,,,,1,619932,0.0000016130801442738881,0,0,,,2.91,,0.0200,0.0100,2.60,,,0,17558,0,0,0,43060,0,0,0,20916,0,0,0,36024,0,0,0,47536,0,0,0,4092,0,0,1,348566,0,0,,,,,0,69228,0,0,0,32952,0,0 +17-43071311-A-T,17,43071311,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-73T>A,,c.4676-73T>A,intron_variant,,,,1,757300,0.0000013204806549584049,0,0,,,4.50,,0.00,0.00,1.28,,,0,14144,0,0,0,880,0,0,0,4680,0,0,0,3264,0,0,0,254,0,0,0,1496,0,0,1,692840,0,0,,,,,0,14896,0,0,0,24846,0,0 +17-43071313-T-C,17,43071313,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4676-75A>G,,c.4676-75A>G,intron_variant,,,,1,758898,0.0000013177001388855947,0,0,,,1.09,,0.0200,0.0200,-0.113,,,0,14146,0,0,0,882,0,0,0,4690,0,0,0,3262,0,0,0,254,0,0,0,1502,0,0,1,694386,0,0,,,,,0,14930,0,0,0,24846,0,0 +17-43074260-C-T,17,43074260,rs2052580415,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+71G>A,,c.4675+71G>A,intron_variant,,,,3,1568138,0.0000019130969340708535,0,0,,,6.52,,0.00,0.00,0.130,,,0,73970,0,0,0,58306,0,0,0,28928,0,0,0,44560,0,0,0,63110,0,0,0,5996,0,0,2,1142950,0,0,0,912,0,0,0,88430,0,0,1,60976,0,0 +17-43074265-ATATCTT-A,17,43074265,,ATATCTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+60_4675+65del,,c.4675+60_4675+65del,intron_variant,,,,1,621210,0.000001609761594307883,0,0,,,12.9,,0.00,0.00,-1.14,,,0,17556,0,0,0,42706,0,0,0,20694,0,0,0,35978,0,0,0,52548,0,0,0,4128,0,0,0,346384,0,0,,,,,0,68418,0,0,1,32798,0,0 +17-43074265-A-G,17,43074265,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+66T>C,,c.4675+66T>C,intron_variant,,,,1,621210,0.000001609761594307883,0,0,,,6.85,,0.00,0.00,-1.14,,,0,17556,0,0,0,42706,0,0,0,20694,0,0,0,35978,0,0,0,52548,0,0,0,4128,0,0,0,346384,0,0,,,,,1,68418,0,0,0,32798,0,0 +17-43074267-A-G,17,43074267,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+64T>C,,c.4675+64T>C,intron_variant,,,,1,1431030,6.987973697267003e-7,0,0,,,12.9,,0.00,-0.0100,1.09,,,0,32842,0,0,0,43806,0,0,0,25726,0,0,0,39480,0,0,0,52918,0,0,0,5708,0,0,0,1086686,0,0,,,,,0,84548,0,0,1,59316,0,0 +17-43074267-ATCTTTATGTAGGATTCAGAG-A,17,43074267,,ATCTTTATGTAGGATTCAGAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+44_4675+63del,,c.4675+44_4675+63del,intron_variant,,,,2,1431030,0.0000013975947394534007,0,0,nfe,3.1e-7,17.4,,0.00,0.0100,1.09,,,0,32842,0,0,0,43806,0,0,0,25726,0,0,0,39480,0,0,0,52918,0,0,0,5708,0,0,2,1086686,0,0,,,,,0,84548,0,0,0,59316,0,0 +17-43074268-T-A,17,43074268,rs1417939677,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+63A>T,,c.4675+63A>T,intron_variant,,,,31,1585690,0.000019549848961650764,0,0,nfe,0.00001921,10.7,,0.00,0.00,-0.0800,,,0,74382,0,0,0,59194,0,0,0,29246,0,0,0,44722,0,0,0,63556,0,0,0,6030,0,0,31,1156608,0,0,0,912,0,0,0,89534,0,0,0,61506,0,0 +17-43074269-C-T,17,43074269,rs2153984593,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+62G>A,,c.4675+62G>A,intron_variant,,,,1,623998,0.0000016025692390039711,0,0,,,14.2,,0.00,0.00,2.98,,,0,17640,0,0,0,43116,0,0,0,20780,0,0,0,36024,0,0,0,52686,0,0,0,4132,0,0,0,347852,0,0,,,,,1,68864,0,0,0,32904,0,0 +17-43074269-C-A,17,43074269,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+62G>T,,c.4675+62G>T,intron_variant,,,,1,623998,0.0000016025692390039711,0,0,,,13.7,,0.00,0.00,2.98,,,0,17640,0,0,0,43116,0,0,0,20780,0,0,1,36024,0,0,0,52686,0,0,0,4132,0,0,0,347852,0,0,,,,,0,68864,0,0,0,32904,0,0 +17-43074273-A-G,17,43074273,rs922742038,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+58T>C,,c.4675+58T>C,intron_variant,,,,3,1437760,0.0000020865791230803473,0,0,,,17.5,,0.00,-0.0100,2.16,,,0,32992,0,0,0,44260,0,0,0,25874,0,0,0,39558,0,0,0,53090,0,0,3,5718,0,0,0,1091540,0,0,,,,,0,85142,0,0,0,59586,0,0 +17-43074274-T-C,17,43074274,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+57A>G,,c.4675+57A>G,intron_variant,,,,3,1439202,0.0000020844884873700843,0,0,sas,0.00000935,12.8,,0.00,0.00,0.0400,,,0,33020,0,0,0,44306,0,0,0,25882,0,0,0,39560,0,0,0,53140,0,0,0,5722,0,0,0,1092702,0,0,,,,,3,85246,0,0,0,59624,0,0 +17-43074275-G-T,17,43074275,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+56C>A,,c.4675+56C>A,intron_variant,,,,1,1439780,6.945505563349956e-7,0,0,,,6.74,,0.00,0.00,-0.621,,,0,33076,0,0,0,44348,0,0,0,25898,0,0,0,39572,0,0,0,53110,0,0,0,5712,0,0,1,1093098,0,0,,,,,0,85308,0,0,0,59658,0,0 +17-43074276-T-C,17,43074276,rs934064952,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+55A>G,,c.4675+55A>G,intron_variant,Benign,1686624,,107,1595204,0.00006707606049132275,0,0,afr,0.0011011199999999997,8.10,,0.00,-0.0100,-2.44,,,98,74682,0,0,8,59718,0,0,0,29402,0,0,0,44780,0,0,0,63800,0,0,0,6020,0,0,0,1163782,0,0,0,912,0,0,0,90240,0,0,1,61868,0,0 +17-43074277-A-G,17,43074277,rs1301488802,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+54T>C,,c.4675+54T>C,intron_variant,,,,2,1594186,0.000001254558752868235,0,0,,,12.5,,0.00,0.00,0.115,,,1,74568,0,0,0,59684,0,0,0,29404,0,0,0,44780,0,0,0,63816,0,0,0,6040,0,0,1,1162948,0,0,0,912,0,0,0,90224,0,0,0,61810,0,0 +17-43074278-G-T,17,43074278,rs869312522,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+53C>A,,c.4675+53C>A,intron_variant,Likely benign,223582,,93,1594746,0.00005831649679635503,3,0,eas,0.0003136900000000001,11.0,,0.00,0.00,-0.187,,,0,74538,0,0,2,59702,0,0,0,29424,0,0,21,44788,1,0,0,63754,0,0,0,6042,0,0,1,1163436,0,0,0,910,0,0,0,90318,0,0,69,61834,2,0 +17-43074281-T-G,17,43074281,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+50A>C,,c.4675+50A>C,intron_variant,,,,1,820202,0.0000012192118526899472,0,0,,,11.1,,0.00,0.00,-0.420,,,0,15532,0,0,0,966,0,0,0,5074,0,0,0,3572,0,0,0,272,0,0,0,1596,0,0,0,750108,0,0,,,,,1,16222,0,0,0,26860,0,0 +17-43074282-T-C,17,43074282,rs1236443418,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+49A>G,,c.4675+49A>G,intron_variant,,,,23,1600478,0.000014370706751358032,0,0,nfe,0.00001233,16.5,,0.0100,-0.0300,1.41,,,0,74686,0,0,0,59852,0,0,0,29494,0,0,0,44828,0,0,0,63946,0,0,0,6056,0,0,22,1168106,0,0,0,912,0,0,0,90594,0,0,1,62004,0,0 +17-43074283-C-A,17,43074283,rs2153984978,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+48G>T,,c.4675+48G>T,intron_variant,,,,1,1448582,6.903302678067241e-7,0,0,,,1.22,,0.00,0.00,0.147,,,0,33228,0,0,0,44558,0,0,0,26028,0,0,0,39624,0,0,0,53310,0,0,0,5742,0,0,1,1100460,0,0,,,,,0,85724,0,0,0,59908,0,0 +17-43074286-A-T,17,43074286,rs2153985097,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+45T>A,,c.4675+45T>A,intron_variant,,,,1,627954,0.0000015924733340340215,0,0,,,17.3,,0.0100,-0.0100,2.57,,,0,17676,0,0,0,43638,0,0,0,20960,0,0,0,36058,0,0,0,53086,0,0,0,4142,0,0,1,349704,0,0,,,,,0,69626,0,0,0,33064,0,0 +17-43074291-AAT-A,17,43074291,,AAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+38_4675+39del,,c.4675+38_4675+39del,intron_variant,,,,2,1455946,0.0000013736773204500716,0,0,nfe,2.999999999999999e-7,16.2,,0.00,0.0100,1.44,,,0,33382,0,0,0,44648,0,0,0,26082,0,0,0,39668,0,0,0,53378,0,0,0,5754,0,0,2,1106832,0,0,,,,,0,86010,0,0,0,60192,0,0 +17-43074291-A-T,17,43074291,rs2153985168,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+40T>A,,c.4675+40T>A,intron_variant,,,,3,1455946,0.0000020605159806751077,0,0,nfe,7.200000000000001e-7,18.8,,0.0100,-0.0100,1.44,,,0,33382,0,0,0,44648,0,0,0,26082,0,0,0,39668,0,0,0,53378,0,0,0,5754,0,0,3,1106832,0,0,,,,,0,86010,0,0,0,60192,0,0 +17-43074294-CAA-C,17,43074294,,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+35_4675+36del,,c.4675+35_4675+36del,intron_variant,,,,1,1456794,6.864388513406838e-7,0,0,,,11.5,,0.0200,-0.0200,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,1,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 +17-43074294-C-A,17,43074294,rs2153985237,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>T,,c.4675+37G>T,intron_variant,,,,1,1456792,6.864397937385707e-7,0,0,,,11.1,,0.0200,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,0,1107674,0,0,,,,,1,85984,0,0,0,60216,0,0 +17-43074294-C-G,17,43074294,rs2153985237,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>C,,c.4675+37G>C,intron_variant,,,,2,1456794,0.0000013728777026813675,0,0,nfe,2.999999999999999e-7,11.5,,0.0200,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,2,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 +17-43074294-C-T,17,43074294,rs2153985237,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+37G>A,,c.4675+37G>A,intron_variant,,,,6,1456794,0.0000041186331080441025,0,0,nfe,0.00000195,11.6,,0.00,0.00,1.50,,,0,33374,0,0,0,44642,0,0,0,26098,0,0,0,39656,0,0,0,53390,0,0,0,5758,0,0,6,1107674,0,0,,,,,0,85986,0,0,0,60216,0,0 +17-43074299-T-C,17,43074299,rs762883588,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+32A>G,,c.4675+32A>G,intron_variant,,,,35,1610816,0.000021728117922841592,0,0,sas,0.00021789,9.37,,0.00,0.00,-0.159,,,0,74868,0,0,0,59958,0,0,0,29586,0,0,0,44854,0,0,1,64012,0,0,0,6074,0,0,0,1177224,0,0,0,912,0,0,28,90948,0,0,6,62380,0,0 +17-43074303-T-C,17,43074303,rs763538386,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+28A>G,,c.4675+28A>G,intron_variant,,,,3,780556,0.000003843414181685876,0,0,nfe,0.0000019100000000000003,10.8,,0.00,0.00,0.666,,,0,59138,0,0,0,58978,0,0,0,24448,0,0,0,41252,0,0,0,63732,0,0,0,4458,0,0,3,417894,0,0,0,912,0,0,0,74580,0,0,0,35164,0,0 +17-43074304-G-T,17,43074304,rs751058529,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+27C>A,,c.4675+27C>A,intron_variant,,,,2,1459764,0.0000013700844794090004,0,0,,,6.40,,0.00,0.00,0.0890,,,0,33428,0,0,0,44694,0,0,0,26124,0,0,0,39684,0,0,0,53410,0,0,0,5760,0,0,1,1110170,0,0,,,,,0,86174,0,0,1,60320,0,0 +17-43074304-G-A,17,43074304,rs751058529,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+27C>T,,c.4675+27C>T,intron_variant,,,,1,1459770,6.850394240188523e-7,0,0,,,6.90,,0.00,0.00,0.0890,,,0,33428,0,0,0,44694,0,0,0,26124,0,0,0,39684,0,0,0,53410,0,0,0,5760,0,0,1,1110176,0,0,,,,,0,86174,0,0,0,60320,0,0 +17-43074307-C-T,17,43074307,rs1326960724,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+24G>A,,c.4675+24G>A,intron_variant,,,,5,1460670,0.0000034230866657082022,0,0,nfe,0.0000013199999999999999,11.4,,0.00,0.00,2.00,,,0,33450,0,0,0,44692,0,0,0,26122,0,0,0,39690,0,0,0,53408,0,0,0,5762,0,0,5,1111026,0,0,,,,,0,86172,0,0,0,60348,0,0 +17-43074311-T-A,17,43074311,rs780870669,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+20A>T,,c.4675+20A>T,intron_variant,,,,1,628522,0.0000015910342040533187,0,0,,,6.43,,0.00,0.00,0.469,,,0,17686,0,0,0,43730,0,0,0,20980,0,0,0,36064,0,0,0,53136,0,0,0,4144,0,0,0,349918,0,0,,,,,1,69784,0,0,0,33080,0,0 +17-43074311-T-C,17,43074311,rs780870669,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+20A>G,,c.4675+20A>G,intron_variant,Conflicting interpretations of pathogenicity,383202,,5,780740,0.00000640418064912775,0,0,nfe,0.0000045,7.28,,0.0200,-0.0100,0.469,,,0,59144,0,0,0,59012,0,0,0,24448,0,0,0,41254,0,0,0,63756,0,0,0,4460,0,0,5,417966,0,0,0,912,0,0,0,74616,0,0,0,35172,0,0 +17-43074313-C-T,17,43074313,rs1388998083,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4675+18G>A,,c.4675+18G>A,intron_variant,Likely benign,630532,,2,152200,0.00001314060446780552,0,0,amr,0.000022610000000000002,1.02,,0.00,0.00,-1.28,,,0,41456,0,0,2,15284,0,0,0,3470,0,0,0,5196,0,0,0,10616,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43074315-G-A,17,43074315,rs2153985953,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+16C>T,,c.4675+16C>T,intron_variant,Likely benign,1136181,,9,832544,0.00001081023945881539,0,0,nfe,0.00000556,9.61,,0.00,0.00,0.800,,,0,15774,0,0,0,982,0,0,0,5150,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,9,761422,0,0,,,,,0,16430,0,0,0,27268,0,0 +17-43074317-A-T,17,43074317,rs2052583222,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+14T>A,,c.4675+14T>A,intron_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,18.2,,0.0200,-0.0300,1.29,,,0,33468,0,0,0,44714,0,0,0,26132,0,0,0,39694,0,0,0,53420,0,0,0,5764,0,0,1,1111592,0,0,,,,,0,86234,0,0,0,60364,0,0 +17-43074317-A-G,17,43074317,rs2052583222,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+14T>C,,c.4675+14T>C,intron_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,18.5,,0.0100,0.0100,1.29,,,0,33468,0,0,0,44714,0,0,0,26132,0,0,0,39694,0,0,0,53420,0,0,0,5764,0,0,0,1111592,0,0,,,,,1,86234,0,0,0,60364,0,0 +17-43074318-G-C,17,43074318,rs2153986057,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+13C>G,,c.4675+13C>G,intron_variant,,,,1,1461370,6.842893996729097e-7,0,0,,,13.7,,0.0500,0.0100,3.02,,,0,33464,0,0,1,44714,0,0,0,26132,0,0,0,39692,0,0,0,53418,0,0,0,5762,0,0,0,1111586,0,0,,,,,0,86232,0,0,0,60370,0,0 +17-43074320-T-A,17,43074320,rs750095985,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+11A>T,,c.4675+11A>T,intron_variant,Likely benign,627814,,2,1459864,0.0000013699906292640958,0,0,nfe,2.999999999999999e-7,16.5,,0.00,0.00,0.746,,,0,33438,0,0,0,44712,0,0,0,26126,0,0,0,39684,0,0,0,53420,0,0,0,5754,0,0,2,1110208,0,0,,,,,0,86196,0,0,0,60326,0,0 +17-43074320-T-C,17,43074320,rs750095985,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4675+11A>G,,c.4675+11A>G,intron_variant,Likely benign,371985,,16,1612054,0.000009925225829903962,0,0,amr,0.00008997999999999999,16.9,,0.0100,0.0100,0.746,,,2,74872,0,0,10,59994,0,0,0,29596,0,0,0,44878,0,0,0,64034,0,0,0,6070,0,0,0,1178252,0,0,0,912,0,0,3,91028,0,0,1,62418,0,0 +17-43074321-G-A,17,43074321,rs1057522769,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+10C>T,,c.4675+10C>T,intron_variant,Likely benign,387365,,2,1461456,0.0000013684982647442003,0,0,,,14.9,,0.0800,0.0300,0.407,,,1,33468,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53414,0,0,0,5764,0,0,1,1111666,0,0,,,,,0,86232,0,0,0,60370,0,0 +17-43074324-A-G,17,43074324,rs273900739,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+7T>C,,c.4675+7T>C,splice_region_variant,Likely benign,37603,,3,1461602,0.0000020525423473695302,0,0,eas,0.00000835,8.32,,0.0100,0.0200,-0.466,,,0,33472,0,0,0,44714,0,0,0,26132,0,0,2,39696,0,0,0,53416,0,0,0,5764,0,0,1,1111784,0,0,,,,,0,86246,0,0,0,60378,0,0 +17-43074327-T-G,17,43074327,rs2153986310,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+4A>C,,c.4675+4A>C,intron_variant,,,,1,833046,0.0000012004139027136558,0,0,,,20.4,,0.260,0.270,0.536,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761842,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43074329-A-T,17,43074329,rs879255293,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4675+2T>A,,c.4675+2T>A,splice_donor_variant,Pathogenic,267554,,1,833034,0.0000012004311948852028,0,0,,,35.0,,0.960,-0.870,6.33,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761830,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074331-C-T,17,43074331,rs80356988,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1559Lys,p.Glu1559Lys,c.4675G>A,missense_variant,Pathogenic,37604,,2,780666,0.0000025619150827626666,0,0,,,35.0,0.765,0.770,-0.780,7.10,0.100,0.00600,0,59098,0,0,0,58994,0,0,0,24452,0,0,0,41256,0,0,1,63750,0,0,0,4460,0,0,1,417962,0,0,0,912,0,0,0,74614,0,0,0,35168,0,0 +17-43074332-T-C,17,43074332,rs996042036,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1558Leu,p.Leu1558Leu,c.4674A>G,splice_region_variant,Uncertain significance,479230,,1,628572,0.000001590907644629414,0,0,,,19.4,,0.520,0.500,1.54,,,1,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4144,0,0,0,349946,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43074335-A-C,17,43074335,rs1597835696,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1557Glu,p.Asp1557Glu,c.4671T>G,missense_variant,Uncertain significance,658642,,1,833060,0.000001200393729143159,0,0,,,8.05,0.586,0.0600,0.0700,-0.375,0.320,0.103,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761856,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074337-C-G,17,43074337,rs80356906,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1557His,p.Asp1557His,c.4669G>C,missense_variant,Conflicting interpretations of pathogenicity,55255,,26,1613854,0.00001611050318058511,0,0,amr,0.00007733999999999997,23.2,0.581,0.00,0.00,2.38,0.00,0.473,0,74912,0,0,9,59982,0,0,0,29602,0,0,0,44898,0,0,0,64032,0,0,0,6080,0,0,16,1179890,0,0,0,912,0,0,0,91072,0,0,1,62474,0,0 +17-43074338-T-A,17,43074338,rs1485442602,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1556His,p.Gln1556His,c.4668A>T,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,15.8,0.583,0.00,-0.0100,0.553,0.0100,0.473,0,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,1,53142,0,0,0,4144,0,0,0,349970,0,0,,,,,0,69788,0,0,0,33082,0,0 +17-43074341-C-T,17,43074341,rs878854952,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1555Arg,p.Arg1555Arg,c.4665G>A,synonymous_variant,Likely benign,240805,,9,1461708,0.000006157180503903652,0,0,nfe,0.00000381,4.04,,0.00,0.00,1.09,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5764,0,0,9,1111876,0,0,,,,,0,86250,0,0,0,60380,0,0 +17-43074342-C-T,17,43074342,rs786202165,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1555Lys,p.Arg1555Lys,c.4664G>A,missense_variant,Uncertain significance,185428,,1,833108,0.0000012003245677631232,0,0,,,11.4,0.558,0.00,0.00,1.28,0.410,0.0240,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43074347-C-T,17,43074347,rs2052588528,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1553Leu,p.Leu1553Leu,c.4659G>A,synonymous_variant,,,,1,1461724,6.841236786151148e-7,0,0,,,6.09,,0.0100,0.0400,3.46,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111896,0,0,,,,,0,86250,0,0,0,60378,0,0 +17-43074347-CAAGT-C,17,43074347,rs80357561,CAAGT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1552CysfsTer6,p.Tyr1552CysfsTer6,c.4655_4658del,frameshift_variant,Pathogenic,55252,lof_flag,1,1461726,6.841227425659802e-7,0,0,,,32.0,,0.100,0.0300,3.46,,,0,33472,0,0,0,44716,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5764,0,0,1,1111898,0,0,,,,,0,86250,0,0,0,60378,0,0 +17-43074349-A-G,17,43074349,rs80357431,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1553Leu,p.Leu1553Leu,c.4657T>C,synonymous_variant,Likely benign,427315,,7,780818,0.00000896495726276802,0,0,afr,0.00005503999999999998,3.93,,0.00,0.00,0.125,,,7,59140,0,0,0,59002,0,0,0,24450,0,0,0,41268,0,0,0,63762,0,0,0,4460,0,0,0,418034,0,0,0,912,0,0,0,74618,0,0,0,35172,0,0 +17-43074349-A-T,17,43074349,rs80357431,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1553Met,p.Leu1553Met,c.4657T>A,missense_variant,Conflicting interpretations of pathogenicity,55254,,2,628618,0.0000031815824554817074,0,0,nfe,9.5e-7,18.5,0.622,0.0300,0.00,0.125,0.0500,0.473,0,17686,0,0,0,43732,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4144,0,0,2,349992,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43074352-A-G,17,43074352,rs1265352633,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1552His,p.Tyr1552His,c.4654T>C,missense_variant,Conflicting interpretations of pathogenicity,433716,,53,1461742,0.00003625810847605118,0,0,nfe,0.00003717,8.22,0.500,0.0400,0.0100,-0.237,0.510,0.00300,0,33472,0,0,0,44714,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5766,0,0,53,1111906,0,0,,,,,0,86250,0,0,0,60384,0,0 +17-43074353-A-G,17,43074353,rs587780863,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1551Ser,p.Ser1551Ser,c.4653T>C,synonymous_variant,Likely benign,136549,,116,1613948,0.00007187344325839494,0,0,nfe,0.00007906,3.21,,0.0300,0.0100,-0.231,,,1,74928,0,0,0,59980,0,0,0,29602,0,0,0,44898,0,0,0,64042,0,0,0,6082,0,0,110,1179946,0,0,0,912,0,0,0,91080,0,0,5,62478,0,0 +17-43074355-A-G,17,43074355,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1551Pro,p.Ser1551Pro,c.4651T>C,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,9.09,0.552,0.00,0.00,0.160,0.0900,0.00,0,17686,0,0,0,43730,0,0,1,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350010,0,0,,,,,0,69788,0,0,0,33090,0,0 +17-43074356-T-A,17,43074356,rs876658608,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1550Thr,p.Thr1550Thr,c.4650A>T,synonymous_variant,Likely benign,491083,,1,152204,0.000006570129562954982,0,0,,,0.541,,0.0100,-0.0100,-0.221,,,0,41458,0,0,0,15268,0,0,0,3468,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43074357-G-A,17,43074357,rs80357076,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1550Ile,p.Thr1550Ile,c.4649C>T,missense_variant,Uncertain significance,55251,,4,780840,0.000005122688386865427,0,0,nfe,0.0000019100000000000003,0.0860,0.556,0.00,-0.0400,-1.76,0.0800,0.00,0,59144,0,0,1,59002,0,0,0,24452,0,0,0,41264,0,0,0,63754,0,0,0,4462,0,0,3,418050,0,0,0,912,0,0,0,74616,0,0,0,35184,0,0 +17-43074358-T-C,17,43074358,rs1193177255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1550Ala,p.Thr1550Ala,c.4648A>G,missense_variant,Uncertain significance,954020,,1,628642,0.0000015907304952580323,0,0,,,5.18,0.504,0.00,0.00,2.14,0.330,0.00,0,17686,0,0,0,43730,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350010,0,0,,,,,1,69788,0,0,0,33090,0,0 +17-43074359-T-G,17,43074359,rs1371814796,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1549Asp,p.Glu1549Asp,c.4647A>C,missense_variant,Uncertain significance,482929,,2,628646,0.000003181440747256803,0,0,amr,0.000007580000000000001,4.02,0.586,0.0200,0.00,0.130,0.280,0.00100,0,17686,0,0,2,43730,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,0,350014,0,0,,,,,0,69788,0,0,0,33090,0,0 +17-43074362-C-T,17,43074362,rs28897692,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1548Thr,p.Thr1548Thr,c.4644G>A,synonymous_variant,Likely benign,184245,,223,1613864,0.0001381776903134341,0,0,nfe,0.00016546,1.18,,0.00,-0.0500,0.170,,,0,74896,0,0,1,59972,0,0,0,29602,0,0,0,44892,0,0,0,64016,0,0,0,6082,0,0,219,1179950,0,0,0,912,0,0,0,91066,0,0,3,62476,0,0 +17-43074363-G-A,17,43074363,rs273900737,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1548Met,p.Thr1548Met,c.4643C>T,missense_variant,Conflicting interpretations of pathogenicity,55249,,6,1613914,0.000003717670210432526,0,0,nfe,0.0000012399999999999998,0.139,0.527,0.00,-0.0200,-0.999,1.00,0.00,0,74918,0,0,1,59978,0,0,0,29602,0,0,0,44890,0,0,0,64028,0,0,0,6082,0,0,5,1179956,0,0,0,912,0,0,0,91070,0,0,0,62478,0,0 +17-43074370-C-G,17,43074370,rs28897691,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1546His,p.Asp1546His,c.4636G>C,missense_variant,Uncertain significance,479201,,7,1461786,0.000004788662635980916,0,0,sas,0.00002995,8.89,0.572,0.0300,-0.0300,0.102,0.160,0.607,0,33472,0,0,0,44714,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111954,0,0,,,,,6,86248,0,0,1,60384,0,0 +17-43074370-C-A,17,43074370,rs28897691,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1546Tyr,p.Asp1546Tyr,c.4636G>T,missense_variant,Benign,55246,,14,1613954,0.000008674348835220831,0,0,nfe,0.000006880000000000001,8.48,0.588,0.00,-0.0400,0.102,0.0100,0.607,0,74902,0,0,0,59976,0,0,0,29604,0,0,0,44890,0,0,0,64038,0,0,0,6082,0,0,14,1179998,0,0,0,912,0,0,0,91074,0,0,0,62478,0,0 +17-43074370-C-T,17,43074370,rs28897691,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1546Asn,p.Asp1546Asn,c.4636G>A,missense_variant,Benign,55245,,202,1614072,0.0001251493118026953,0,0,sas,0.00019906,0.525,0.285,0.00,-0.0300,0.102,0.830,0.0560,2,75024,0,0,2,59996,0,0,31,29604,0,0,0,44878,0,0,0,64038,0,0,11,6060,0,0,111,1179990,0,0,0,912,0,0,26,91070,0,0,19,62500,0,0 +17-43074371-G-C,17,43074371,rs373686790,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1545Gln,p.His1545Gln,c.4635C>G,missense_variant,Conflicting interpretations of pathogenicity,409336,,10,1461792,0.000006840918543814715,0,0,nfe,0.00000455,0.00200,0.570,0.0200,0.00,-1.15,0.990,0.00100,0,33472,0,0,0,44712,0,0,0,26132,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,10,1111958,0,0,,,,,0,86248,0,0,0,60388,0,0 +17-43074371-G-A,17,43074371,rs373686790,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1545His,p.His1545His,c.4635C>T,synonymous_variant,Likely benign,377572,,11,1613904,0.0000068157709504406705,0,0,afr,0.00001747,0.0400,,0.00,-0.0100,-1.15,,,4,74886,0,0,1,59984,0,0,0,29600,0,0,0,44884,0,0,0,64020,0,0,0,6082,0,0,4,1179990,0,0,0,912,0,0,2,91070,0,0,0,62476,0,0 +17-43074373-G-A,17,43074373,rs2153996148,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1545Tyr,p.His1545Tyr,c.4633C>T,missense_variant,Uncertain significance,1466706,,1,833110,0.0000012003216862119048,0,0,,,14.5,0.481,0.00,0.00,1.85,0.0200,0.0890,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074376-GC-G,17,43074376,,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1544HisfsTer4,p.Pro1544HisfsTer4,c.4629del,frameshift_variant,,,lof_flag,1,833108,0.0000012003245677631232,0,0,,,20.8,,0.00,-0.120,0.273,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074377-C-T,17,43074377,rs1555581858,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1543Gly,p.Gly1543Gly,c.4629G>A,synonymous_variant,Likely benign,531496,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,0.950,,0.0500,0.00,0.290,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074379-CAG-C,17,43074379,rs80357542,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542TrpfsTer31,p.Ser1542TrpfsTer31,c.4625_4626del,frameshift_variant,Pathogenic,55243,lof_flag,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,23.7,,0.0800,0.0100,2.47,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074381-G-C,17,43074381,rs41293457,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542Cys,p.Ser1542Cys,c.4625C>G,missense_variant,Conflicting interpretations of pathogenicity,55242,,36,1461816,0.00002462690242821258,0,0,nfe,0.0000237,10.5,0.421,0.0100,-0.0100,0.230,0.110,0.628,0,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,36,1111974,0,0,,,,,0,86248,0,0,0,60390,0,0 +17-43074382-A-G,17,43074382,rs2052595821,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1542Pro,p.Ser1542Pro,c.4624T>C,missense_variant,Uncertain significance,920744,,1,1461826,6.840759433749297e-7,0,0,,,16.3,0.447,0.0100,0.00,0.0620,0.230,0.00900,1,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111980,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43074382-ACT-A,17,43074382,rs886040241,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1541ValfsTer32,p.Glu1541ValfsTer32,c.4622_4623del,frameshift_variant,Pathogenic,266488,lof_flag,1,1461826,6.840759433749297e-7,0,0,,,23.2,,0.0200,0.00,0.0620,,,0,33472,0,0,0,44716,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5766,0,0,0,1111980,0,0,,,,,0,86252,0,0,1,60390,0,0 +17-43074383-C-T,17,43074383,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1541Glu,p.Glu1541Glu,c.4623G>A,synonymous_variant,,,,1,628706,0.000001590568564639116,0,0,,,1.41,,0.00,0.00,2.67,,,0,17688,0,0,0,43728,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4146,0,0,0,350070,0,0,,,,,1,69790,0,0,0,33092,0,0 +17-43074386-T-C,17,43074386,rs769566412,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1540Glu,p.Glu1540Glu,c.4620A>G,synonymous_variant,Likely benign,481424,,1,628718,0.000001590538206318254,0,0,,,0.260,,0.00,-0.0100,-1.43,,,0,17688,0,0,0,43732,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4146,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43074388-C-G,17,43074388,rs80357277,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1540Gln,p.Glu1540Gln,c.4618G>C,missense_variant,Uncertain significance,825047,,1,833108,0.0000012003245677631232,0,0,,,5.12,0.614,0.00,-0.0400,0.540,0.500,0.0730,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074390-A-G,17,43074390,rs377629427,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1539Pro,p.Leu1539Pro,c.4616T>C,missense_variant,Uncertain significance,409342,,8,833108,0.000009602596542104985,0,0,nfe,0.00000452,9.16,0.627,0.00,0.00,-0.219,0.170,0.0910,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,8,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074391-G-A,17,43074391,rs2154000691,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1539Leu,p.Leu1539Leu,c.4615C>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.33,,0.00,-0.0200,1.64,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074392-C-T,17,43074392,rs1555581876,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1538Gln,p.Gln1538Gln,c.4614G>A,synonymous_variant,Likely benign,482910,,3,1461838,0.0000020522109837068127,0,0,nfe,7.200000000000001e-7,0.193,,0.0100,0.00,-2.61,,,0,33474,0,0,0,44718,0,0,0,26134,0,0,0,39700,0,0,0,53420,0,0,0,5766,0,0,3,1111984,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43074400-C-A,17,43074400,rs876660460,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1536Ter,p.Glu1536Ter,c.4606G>T,stop_gained,Pathogenic,935901,lof_flag,1,628730,0.0000015905078491562355,0,0,,,32.0,,0.00,-0.240,1.02,,,0,17692,0,0,0,43736,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43074400-C-T,17,43074400,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1536Lys,p.Glu1536Lys,c.4606G>A,missense_variant,Likely benign,1741846,,1,628730,0.0000015905078491562355,0,0,,,0.602,0.560,0.00,-0.0100,1.02,0.160,0.00600,0,17692,0,0,0,43736,0,0,0,20984,0,0,1,36070,0,0,0,53144,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43074403-C-A,17,43074403,rs80357366,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1535Ter,p.Glu1535Ter,c.4603G>T,stop_gained,Pathogenic,55236,lof_flag,2,152192,0.000013141295206055508,0,0,afr,0.000008,34.0,,0.170,-0.420,0.965,,,2,41454,0,0,0,15272,0,0,0,3470,0,0,0,5196,0,0,0,10610,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43074406-C-T,17,43074406,rs55815649,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1534Met,p.Val1534Met,c.4600G>A,missense_variant,Benign,55235,,531,1614162,0.00032896326391031384,1,0,afr,0.004261100000000001,0.584,0.585,0.00,-0.0200,-1.05,0.110,0.00600,350,75050,1,0,33,60012,0,0,0,29602,0,0,0,44880,0,0,1,64036,0,0,2,6062,0,0,113,1180018,0,0,0,912,0,0,0,91084,0,0,32,62506,0,0 +17-43074407-A-G,17,43074407,rs1131692095,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1533Asp,p.Asp1533Asp,c.4599T>C,synonymous_variant,Likely benign,427286,,1,628748,0.0000015904623155858944,0,0,,,3.33,,0.00,0.00,-0.103,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43074409-C-A,17,43074409,rs899108857,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1533Tyr,p.Asp1533Tyr,c.4597G>T,missense_variant,Uncertain significance,441437,,8,1461858,0.00000547248775188835,0,0,sas,0.00000924,21.2,0.592,0.00,-0.0500,0.646,0.0200,0.00300,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1111988,0,0,,,,,3,86256,0,0,0,60392,0,0 +17-43074410-A-G,17,43074410,rs1567777953,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1532Val,p.Val1532Val,c.4596T>C,synonymous_variant,Likely benign,628947,,3,1461858,0.0000020521829069581315,0,0,nfe,7.200000000000001e-7,3.81,,0.00,0.00,-0.277,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43074415-C-A,17,43074415,rs1555581897,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1531Phe,p.Val1531Phe,c.4591G>T,missense_variant,Uncertain significance,801079,,1,833104,0.0000012003303309070656,0,0,,,8.22,0.560,0.00,0.00,0.0420,0.0200,0.154,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074415-C-T,17,43074415,rs1555581897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1531Ile,p.Val1531Ile,c.4591G>A,missense_variant,Uncertain significance,485392,,1,833104,0.0000012003303309070656,0,0,,,0.530,0.546,0.00,0.00,0.0420,0.320,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074417-T-A,17,43074417,rs398122689,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1530Met,p.Lys1530Met,c.4589A>T,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,20.5,0.496,0.00,0.00,0.234,0.0200,0.101,0,17692,0,0,0,43740,0,0,0,20984,0,0,1,36070,0,0,0,53144,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43074418-T-C,17,43074418,rs764016240,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1530Glu,p.Lys1530Glu,c.4588A>G,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,5.14,0.553,0.00,0.00,-0.0850,0.500,0.0230,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43074420-A-G,17,43074420,rs1597836187,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1529Thr,p.Ile1529Thr,c.4586T>C,missense_variant,Uncertain significance,1741675,,1,628760,0.0000015904319613206948,0,0,,,2.32,0.550,0.00,0.00,-0.495,0.170,0.0230,0,17692,0,0,0,43740,0,0,1,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43074421-T-C,17,43074421,rs80357095,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1529Val,p.Ile1529Val,c.4585A>G,missense_variant,Conflicting interpretations of pathogenicity,55233,,5,1613666,0.0000030985346409975794,0,0,afr,0.000025490000000000005,0.795,0.531,0.00,0.00,-2.23,0.890,0.00,5,74934,0,0,0,59998,0,0,0,29602,0,0,0,44894,0,0,0,64046,0,0,0,6082,0,0,0,1179646,0,0,0,912,0,0,0,91080,0,0,0,62472,0,0 +17-43074423-A-G,17,43074423,rs1555581911,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1528Pro,p.Leu1528Pro,c.4583T>C,missense_variant,Uncertain significance,481486,,1,833098,0.0000012003389757267452,0,0,,,12.2,0.568,0.00,0.00,-0.0900,0.110,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43074425-C-T,17,43074425,rs1060504560,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1527Glu,p.Glu1527Glu,c.4581G>A,synonymous_variant,Likely benign,415556,,1,628764,0.0000015904218434897671,0,0,,,4.78,,0.00,0.00,1.98,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43074426-T-G,17,43074426,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1527Ala,p.Glu1527Ala,c.4580A>C,missense_variant,,,,4,1461868,0.0000027362251584958422,0,0,nfe,8.4e-7,15.8,0.574,0.00,-0.0300,0.714,0.160,0.0480,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,4,1111992,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43074430-CTT-C,17,43074430,rs80357813,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1525ArgfsTer5,p.Gln1525ArgfsTer5,c.4574_4575del,frameshift_variant,Pathogenic,55229,lof_flag,6,1461862,0.000004104354583401169,0,0,nfe,0.00000194,26.2,,0.00,-0.0700,1.48,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53420,0,0,0,5768,0,0,6,1111992,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43074433-G-A,17,43074433,rs886040237,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1525Ter,p.Gln1525Ter,c.4573C>T,stop_gained,Pathogenic,266484,lof_flag,1,152204,0.000006570129562954982,0,0,,,38.0,,0.00,-0.320,2.90,,,0,41452,0,0,0,15282,0,0,0,3470,0,0,1,5198,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,910,0,0,0,4834,0,0,0,2090,0,0 +17-43074438-G-A,17,43074438,rs1555581955,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Leu,p.Pro1523Leu,c.4568C>T,missense_variant,Uncertain significance,482903,,1,628774,0.0000015903965494756462,0,0,,,9.63,0.555,0.00,-0.0200,0.228,0.230,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43074439-G-A,17,43074439,rs1390166929,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Ser,p.Pro1523Ser,c.4567C>T,missense_variant,Uncertain significance,1063272,,2,628774,0.0000031807930989512924,0,0,nfe,9.5e-7,12.3,0.604,0.00,0.00,0.968,0.170,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43074439-G-C,17,43074439,rs1390166929,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1523Ala,p.Pro1523Ala,c.4567C>G,missense_variant,Uncertain significance,646371,,1,628774,0.0000015903965494756462,0,0,,,10.0,0.587,0.00,0.00,0.968,0.250,0.00300,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43074440-G-A,17,43074440,rs886040234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1522Tyr,p.Tyr1522Tyr,c.4566C>T,synonymous_variant,,,,1,833054,0.0000012004023748760586,0,0,,,2.96,,0.00,-0.0200,4.95,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43074442-A-G,17,43074442,rs1567778091,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1522His,p.Tyr1522His,c.4564T>C,missense_variant,Uncertain significance,627833,,4,833012,0.0000048018515939746365,0,0,nfe,0.0000012299999999999999,13.4,0.523,0.00,-0.0200,-0.0760,0.270,0.101,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761820,0,0,,,,,0,16456,0,0,0,27290,0,0 +17-43074446-T-C,17,43074446,rs761293595,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1520Arg,p.Arg1520Arg,c.4560A>G,synonymous_variant,Likely benign,427304,,1,628772,0.0000015904016082141062,0,0,,,3.88,,0.00,-0.0100,1.37,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43074449-A-G,17,43074449,rs876659243,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1519Asn,p.Asn1519Asn,c.4557T>C,synonymous_variant,Likely benign,231584,,7,1614010,0.000004337023934176368,0,0,afr,0.000034719999999999986,0.960,,0.0100,0.0100,-0.0210,,,6,74920,0,0,0,59994,0,0,0,29606,0,0,0,44898,0,0,0,64046,0,0,0,6084,0,0,0,1179980,0,0,0,912,0,0,1,91082,0,0,0,62488,0,0 +17-43074450-T-C,17,43074450,rs766962460,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1519Ser,p.Asn1519Ser,c.4556A>G,missense_variant,,,,2,628776,0.0000031807829815387355,0,0,,,6.43,0.284,0.00,-0.0300,0.562,0.150,0.00100,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,2,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43074452-C-T,17,43074452,rs786202635,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1518Gln,p.Gln1518Gln,c.4554G>A,synonymous_variant,Likely benign,186022,,2,985374,0.0000020296861902181304,0,0,,,2.37,,0.00,-0.0300,1.20,,,0,57346,0,0,1,16276,0,0,0,8622,0,0,0,8820,0,0,0,10888,0,0,0,1914,0,0,1,829900,0,0,0,912,0,0,0,21284,0,0,0,29412,0,0 +17-43074454-G-T,17,43074454,rs80356881,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1518Lys,p.Gln1518Lys,c.4552C>A,missense_variant,Uncertain significance,232176,,2,1461856,0.0000013681238097322856,0,0,nfe,2.999999999999999e-7,19.8,0.518,0.00,-0.100,3.42,0.0500,0.0230,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43074454-G-C,17,43074454,rs80356881,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1518Glu,p.Gln1518Glu,c.4552C>G,missense_variant,Uncertain significance,219563,,1,1461858,6.840609689860438e-7,0,0,,,17.8,0.532,0.00,-0.0900,3.42,0.0100,0.0100,0,33480,0,0,0,44724,0,0,0,26136,0,0,0,39700,0,0,0,53418,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43074457-G-A,17,43074457,rs137894496,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1517Phe,p.Leu1517Phe,c.4549C>T,missense_variant,Uncertain significance,661280,,2,628774,0.0000031807930989512924,0,0,,,23.9,0.567,0.00,-0.100,3.32,0.0800,0.276,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43074461-C-T,17,43074461,rs755731300,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1515Gly,p.Gly1515Gly,c.4545G>A,synonymous_variant,Likely benign,427351,,1,628766,0.0000015904167846225783,0,0,,,2.21,,0.00,0.00,-0.104,,,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69794,0,0,0,33098,0,0 +17-43074462-C-T,17,43074462,rs398122688,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1515Glu,p.Gly1515Glu,c.4544G>A,missense_variant,Likely benign,91632,,4,833074,0.000004801494225002821,0,0,nfe,0.0000012299999999999999,12.7,0.609,0.00,0.00,0.371,0.120,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761868,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43074469-A-G,17,43074469,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1513Arg,p.Cys1513Arg,c.4537T>C,missense_variant,Uncertain significance,1741305,,1,628774,0.0000015903965494756462,0,0,,,0.613,0.536,0.00,0.0100,-0.636,0.550,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36070,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43074471-C-A,17,43074471,rs1800744,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1512Ile,p.Ser1512Ile,c.4535G>T,missense_variant,Benign,41826,,4969,1614128,0.0030784423540140557,17,0,nfe,0.00358635,19.3,0.516,0.00,-0.0200,3.96,0.00,0.133,49,75028,1,0,87,60012,0,0,164,29606,2,0,0,44892,0,0,86,64022,1,0,12,6060,0,0,4340,1180008,10,0,0,912,0,0,61,91076,2,0,170,62512,1,0 +17-43074472-T-A,17,43074472,rs80357137,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1512Cys,p.Ser1512Cys,c.4534A>T,missense_variant,Uncertain significance,55224,,1,152182,0.0000065710793654965765,0,0,,,19.4,0.582,0.00,-0.0200,0.609,0.0400,0.00300,0,41448,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43074473-G-A,17,43074473,rs1567778195,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1511His,p.His1511His,c.4533C>T,synonymous_variant,Likely benign,1049278,,1,833060,0.000001200393729143159,0,0,,,0.850,,0.00,-0.0500,-0.317,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761862,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43074476-C-T,17,43074476,rs1555582010,C,T,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.3G>A,start_lost,Uncertain significance,482904,,1,833058,0.0000012003966110402877,0,0,,,0.718,0.534,0.00,-0.0300,-0.899,0.340,0.00,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43074477-A-C,17,43074477,rs1064794378,A,C,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.2T>G,start_lost,,,,1,628770,0.000001590406666984748,0,0,,,11.7,0.548,0.0200,-0.0500,-0.509,0.0300,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43074478-T-C,17,43074478,rs1253680250,T,C,gnomAD Exomes,PASS,NA,ENST00000591534.5,p.Met1?,p.Met1?,c.1A>G,start_lost,Conflicting interpretations of pathogenicity,1741241,,1,628772,0.0000015904016082141062,0,0,,,0.00100,0.511,0.0300,0.00,-0.366,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43074478-T-A,17,43074478,rs1253680250,T,A,gnomAD Genomes,NA,PASS,ENST00000591534.5,p.Met1?,p.Met1?,c.1A>T,start_lost,,,,1,152182,0.0000065710793654965765,0,0,,,0.0540,0.505,0.0100,-0.0100,-0.366,0.210,0.00,1,41438,0,0,0,15280,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4828,0,0,0,2094,0,0 +17-43074479-G-A,17,43074479,rs886040233,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1509Tyr,p.Tyr1509Tyr,c.4527C>T,synonymous_variant,Benign/Likely benign,633098,,1,628772,0.0000015904016082141062,0,0,,,0.176,,0.00,-0.0200,0.305,,,0,17694,0,0,1,43740,0,0,0,20984,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43074482-C-T,17,43074482,rs80356885,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp1508Ter,p.Trp1508Ter,c.4524G>A,stop_gained,Pathogenic,55221,lof_flag,3,1461826,0.000002052227830124789,0,0,nfe,2.999999999999999e-7,34.0,,0.00,-0.0900,0.832,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1111952,0,0,,,,,0,86256,0,0,1,60396,0,0 +17-43074485-C-T,17,43074485,rs1435385135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1507Arg,p.Arg1507Arg,c.4521G>A,synonymous_variant,Likely benign,462653,,3,1461822,0.0000020522334456589104,0,0,eas,0.00000835,2.19,,0.00,0.00,0.0820,,,0,33478,0,0,0,44724,0,0,0,26136,0,0,2,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111946,0,0,,,,,0,86256,0,0,1,60396,0,0 +17-43074486-C-G,17,43074486,rs80357470,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1507Thr,p.Arg1507Thr,c.4520G>C,missense_variant,Benign,41825,,62,1613966,0.00003841468779391883,0,0,nfe,0.00003341,10.7,0.545,0.00,0.00,0.668,0.0100,0.0490,0,74886,0,0,4,59996,0,0,0,29606,0,0,0,44898,0,0,0,64030,0,0,2,6084,0,0,51,1179980,0,0,0,912,0,0,3,91084,0,0,2,62490,0,0 +17-43074488-A-G,17,43074488,rs73983787,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1506Asp,p.Asp1506Asp,c.4518T>C,synonymous_variant,Likely benign,427363,,4,781084,0.000005121088128805609,0,0,afr,0.00001343,1.49,,0.140,0.0100,-0.699,,,3,59270,0,0,0,59028,0,0,0,24456,0,0,0,41256,0,0,0,63762,0,0,0,4442,0,0,1,418118,0,0,0,912,0,0,0,74626,0,0,0,35214,0,0 +17-43074491-A-G,17,43074491,rs1057522167,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1505Asp,p.Asp1505Asp,c.4515T>C,synonymous_variant,Likely benign,385265,,3,833046,0.000003601241708140967,0,0,nfe,0.00000105,0.380,,0.00,0.00,-0.984,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761850,0,0,,,,,0,16456,0,0,0,27296,0,0 +17-43074492-T-A,17,43074492,rs1567778319,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1505Val,p.Asp1505Val,c.4514A>T,missense_variant,Uncertain significance,570514,,1,628772,0.0000015904016082141062,0,0,,,15.7,0.565,0.380,-0.0800,0.465,0.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43074494-T-C,17,43074494,rs1555582056,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1504Leu,p.Leu1504Leu,c.4512A>G,synonymous_variant,Likely benign,485394,,2,832898,0.000002401254415306556,0,0,nfe,4.4e-7,0.355,,0.200,0.0400,-2.97,,,0,15776,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,2,761718,0,0,,,,,0,16450,0,0,0,27294,0,0 +17-43074498-G-T,17,43074498,rs80357437,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1503Ter,p.Ser1503Ter,c.4508C>A,stop_gained,Pathogenic,55219,lof_flag,5,1461712,0.000003420646474818569,0,0,sas,0.000021940000000000003,35.0,,0.0800,-0.200,0.299,,,0,33476,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5766,0,0,0,1111866,0,0,,,,,5,86242,0,0,0,60390,0,0 +17-43074500-T-C,17,43074500,rs778400777,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Pro,p.Pro1502Pro,c.4506A>G,synonymous_variant,Likely benign,427295,,1,628764,0.0000015904218434897671,0,0,,,2.22,,0.00,0.00,-0.457,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350096,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43074501-G-C,17,43074501,rs56335406,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Arg,p.Pro1502Arg,c.4505C>G,missense_variant,,,,1,1461564,6.841985708460252e-7,0,0,,,0.651,0.546,0.00,0.00,-0.657,0.590,0.00,0,33464,0,0,0,44722,0,0,0,26136,0,0,0,39696,0,0,0,53408,0,0,0,5764,0,0,1,1111744,0,0,,,,,0,86240,0,0,0,60390,0,0 +17-43074501-G-T,17,43074501,rs56335406,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Gln,p.Pro1502Gln,c.4505C>A,missense_variant,Conflicting interpretations of pathogenicity,185183,,3,1461564,0.0000020525957125380757,0,0,nfe,7.200000000000001e-7,0.215,0.523,0.00,-0.0300,-0.657,1.00,0.00,0,33464,0,0,0,44722,0,0,0,26136,0,0,0,39696,0,0,0,53408,0,0,0,5764,0,0,3,1111744,0,0,,,,,0,86240,0,0,0,60390,0,0 +17-43074502-G-A,17,43074502,rs80357383,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1502Ser,p.Pro1502Ser,c.4504C>T,missense_variant,Uncertain significance,55218,,1,1461676,6.841461445628169e-7,0,0,,,15.6,0.444,0.00,0.0100,2.48,0.210,0.00600,0,33472,0,0,0,44724,0,0,0,26136,0,0,0,39698,0,0,0,53414,0,0,0,5766,0,0,1,1111836,0,0,,,,,0,86244,0,0,0,60386,0,0 +17-43074503-G-A,17,43074503,rs747539984,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1501Cys,p.Cys1501Cys,c.4503C>T,synonymous_variant,Likely benign,240804,,1,628754,0.0000015904471383084641,0,0,,,4.42,,0.130,0.0200,0.811,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43074505-A-T,17,43074505,rs1452494041,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1501Ser,p.Cys1501Ser,c.4501T>A,missense_variant,,,,3,628760,0.000004771295883962084,0,0,sas,0.00000475,6.12,0.559,0.00,0.0100,-0.439,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36068,0,0,0,53138,0,0,1,4146,0,0,0,350096,0,0,,,,,2,69796,0,0,0,33098,0,0 +17-43074506-T-C,17,43074506,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1500Lys,p.Lys1500Lys,c.4500A>G,synonymous_variant,,,,1,628758,0.0000015904370202844338,0,0,,,3.24,,0.00,0.00,-0.0900,,,0,17694,0,0,0,43738,0,0,0,20984,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43074510-G-A,17,43074510,rs1286565832,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1499Phe,p.Ser1499Phe,c.4496C>T,missense_variant,,,,1,628746,0.0000015904673747427419,0,0,,,18.7,0.498,0.0500,-0.0600,3.00,0.120,0.854,0,17694,0,0,0,43740,0,0,0,20984,0,0,0,36064,0,0,1,53134,0,0,0,4146,0,0,0,350094,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43074512-A-G,17,43074512,rs1392795477,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1498Pro,p.Pro1498Pro,c.4494T>C,synonymous_variant,,,,2,984866,0.0000020307331149618325,0,0,,,9.10,,0.00,-0.0200,2.76,,,0,57234,0,0,0,16266,0,0,0,8624,0,0,0,8830,0,0,0,10900,0,0,0,1934,0,0,0,829506,0,0,0,912,0,0,1,21280,0,0,1,29380,0,0 +17-43074513-G-C,17,43074513,rs1555582079,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1498Arg,p.Pro1498Arg,c.4493C>G,missense_variant,Uncertain significance,485378,,2,832618,0.000002402061929960678,0,0,nfe,4.4e-7,22.9,0.533,0.00,0.00,0.778,0.0300,0.0550,0,15768,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,761468,0,0,,,,,0,16442,0,0,0,27284,0,0 +17-43074515-G-T,17,43074515,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1497Ser,p.Ser1497Ser,c.4491C>A,synonymous_variant,,,,1,832458,0.0000012012618054003926,0,0,,,5.44,,0.00,0.00,0.162,,,0,15770,0,0,0,984,0,0,0,5150,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,761318,0,0,,,,,0,16442,0,0,0,27276,0,0 +17-43074522-C-T,17,43074522,rs80358189,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-1G>A,,c.4485-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,55213,,4,628702,0.000006362314737347742,0,0,sas,0.000019380000000000004,33.0,,0.970,-0.830,6.94,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53120,0,0,0,4140,0,0,0,350088,0,0,,,,,4,69784,0,0,0,33094,0,0 +17-43074526-A-G,17,43074526,rs2154024959,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-5T>C,,c.4485-5T>C,splice_region_variant,Likely benign,1124073,,2,628686,0.000003181238328831881,0,0,sas,0.00000476,12.8,,0.0300,-0.0600,1.23,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53112,0,0,0,4132,0,0,0,350082,0,0,,,,,2,69786,0,0,0,33096,0,0 +17-43074528-A-G,17,43074528,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-7T>C,,c.4485-7T>C,splice_region_variant,,,,1,831186,0.0000012031001484625584,0,0,,,13.5,,0.0400,-0.0900,2.69,,,0,15750,0,0,0,980,0,0,0,5146,0,0,0,3622,0,0,0,276,0,0,0,1614,0,0,1,760166,0,0,,,,,0,16412,0,0,0,27220,0,0 +17-43074529-G-A,17,43074529,rs397507234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-8C>T,,c.4485-8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,37599,,113,1611770,0.00007010925876520844,0,0,nfe,0.00007918,7.95,,0.0100,-0.0100,0.474,,,2,74876,0,0,0,59966,0,0,0,29592,0,0,0,44880,0,0,0,63970,0,0,0,6054,0,0,110,1178102,0,0,0,912,0,0,0,91026,0,0,1,62392,0,0 +17-43074529-G-T,17,43074529,rs397507234,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-8C>A,,c.4485-8C>A,splice_region_variant,Conflicting interpretations of pathogenicity,508746,,1,1459616,6.851117006116677e-7,0,0,,,8.73,,0.0500,-0.110,0.474,,,0,33432,0,0,0,44708,0,0,0,26120,0,0,0,39682,0,0,0,53362,0,0,0,5738,0,0,1,1110080,0,0,,,,,0,86190,0,0,0,60304,0,0 +17-43074531-T-C,17,43074531,rs863224420,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-10A>G,,c.4485-10A>G,intron_variant,Conflicting interpretations of pathogenicity,215874,,13,1611216,0.000008068440233959941,0,0,amr,0.00006617999999999998,5.68,,0.00,0.00,-0.545,,,3,74850,0,0,8,59966,0,0,0,29588,0,0,0,44870,0,0,0,63980,0,0,0,6046,0,0,0,1177588,0,0,0,910,0,0,1,91030,0,0,1,62388,0,0 +17-43074535-T-G,17,43074535,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-14A>C,,c.4485-14A>C,intron_variant,,,,1,1458178,6.857873318620909e-7,0,0,,,6.08,,0.00,0.00,-1.11,,,0,33404,0,0,0,44706,0,0,0,26116,0,0,0,39666,0,0,0,53350,0,0,0,5706,0,0,1,1108824,0,0,,,,,0,86152,0,0,0,60254,0,0 +17-43074535-T-C,17,43074535,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-14A>G,,c.4485-14A>G,intron_variant,Likely benign,2021009,,1,1458178,6.857873318620909e-7,0,0,,,6.41,,0.00,0.00,-1.11,,,0,33404,0,0,0,44706,0,0,0,26116,0,0,1,39666,0,0,0,53350,0,0,0,5706,0,0,0,1108824,0,0,,,,,0,86152,0,0,0,60254,0,0 +17-43074539-A-T,17,43074539,rs80358000,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-18T>A,,c.4485-18T>A,intron_variant,Likely benign,125715,,1,1455068,6.872531043222722e-7,0,0,,,10.3,,0.0400,-0.0800,1.18,,,0,33326,0,0,1,44692,0,0,0,26086,0,0,0,39644,0,0,0,53302,0,0,0,5668,0,0,0,1106114,0,0,,,,,0,86090,0,0,0,60146,0,0 +17-43074548-C-T,17,43074548,rs2154025481,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-27G>A,,c.4485-27G>A,intron_variant,,,,2,805338,0.000002483429317876469,0,0,nfe,4.4999999999999993e-7,3.49,,0.00,0.00,-0.359,,,0,15170,0,0,0,940,0,0,0,4980,0,0,0,3452,0,0,0,274,0,0,0,1564,0,0,2,736694,0,0,,,,,0,15948,0,0,0,26316,0,0 +17-43074549-C-A,17,43074549,rs746045640,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-28G>T,,c.4485-28G>T,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,6.34,,0.00,0.00,-0.0860,,,1,41426,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10600,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43074549-C-G,17,43074549,rs746045640,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-28G>C,,c.4485-28G>C,intron_variant,,,,28,1433020,0.00001953915507110857,0,0,sas,0.00022265,6.62,,0.00,-0.0100,-0.0860,,,0,32862,0,0,0,44540,0,0,0,25926,0,0,0,39488,0,0,0,53124,0,0,0,5478,0,0,0,1086744,0,0,,,,,27,85490,0,0,1,59368,0,0 +17-43074552-C-T,17,43074552,rs769895361,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-31G>A,,c.4485-31G>A,intron_variant,Likely benign,1608264,,17,1581302,0.00001075063460363675,0,0,eas,0.00004361999999999998,8.75,,0.00,0.00,0.978,,,1,74204,0,0,0,59734,0,0,0,29392,0,0,5,44670,0,0,0,63606,0,0,0,5752,0,0,6,1151480,0,0,0,908,0,0,1,90214,0,0,4,61342,0,0 +17-43074553-G-T,17,43074553,rs775850331,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-32C>A,,c.4485-32C>A,intron_variant,Uncertain significance,1327149,,3,1422752,0.0000021085895503924787,0,0,sas,0.00000936,9.21,,0.0200,-0.100,0.881,,,0,32640,0,0,0,44418,0,0,0,25862,0,0,0,39422,0,0,0,52922,0,0,0,5376,0,0,0,1077920,0,0,,,,,3,85156,0,0,0,59036,0,0 +17-43074553-G-A,17,43074553,rs775850331,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-32C>T,,c.4485-32C>T,intron_variant,,,,12,1574876,0.0000076196475151059515,0,0,sas,0.00000886,9.19,,0.00,0.00,0.881,,,1,74060,0,0,2,59682,0,0,0,29334,0,0,2,44614,0,0,0,63522,0,0,0,5692,0,0,4,1145940,0,0,0,912,0,0,3,89990,0,0,0,61130,0,0 +17-43074555-C-T,17,43074555,rs768492260,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-34G>A,,c.4485-34G>A,intron_variant,,,,2,152158,0.000013144231653938668,0,0,afr,0.000008,3.84,,0.00,0.00,0.0890,,,2,41424,0,0,0,15276,0,0,0,3468,0,0,0,5198,0,0,0,10604,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43074556-A-T,17,43074556,rs1470233099,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-35T>A,,c.4485-35T>A,intron_variant,,,,1,1419778,7.04335466530683e-7,0,0,,,12.3,,0.0300,-0.0700,0.995,,,0,32572,0,0,0,44318,0,0,0,25836,0,0,0,39432,0,0,0,52892,0,0,0,5294,0,0,1,1075432,0,0,,,,,0,85062,0,0,0,58940,0,0 +17-43074557-C-T,17,43074557,rs1214926485,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-36G>A,,c.4485-36G>A,intron_variant,,,,3,1571038,0.000001909565522921788,0,0,nfe,6.999999999999999e-7,4.31,,0.00,0.00,-0.426,,,0,73972,0,0,0,59614,0,0,0,29306,0,0,0,44612,0,0,0,63492,0,0,0,5634,0,0,3,1142600,0,0,0,912,0,0,0,89872,0,0,0,61024,0,0 +17-43074558-C-A,17,43074558,rs2154025763,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-37G>T,,c.4485-37G>T,intron_variant,,,,2,1413774,0.0000014146532614123614,0,0,,,7.81,,0.00,0.00,1.32,,,0,32426,0,0,0,44296,0,0,0,25776,0,0,0,39398,0,0,0,52850,0,0,1,5282,0,0,0,1070114,0,0,,,,,1,84866,0,0,0,58766,0,0 +17-43074564-T-C,17,43074564,rs1252919941,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-43A>G,,c.4485-43A>G,intron_variant,,,,1,1397536,7.155450736152772e-7,0,0,,,5.83,,0.00,-0.0100,-0.396,,,0,32082,0,0,0,44020,0,0,0,25678,0,0,0,39284,0,0,0,52604,0,0,0,5102,0,0,1,1056248,0,0,,,,,0,84386,0,0,0,58132,0,0 +17-43074572-CAA-C,17,43074572,,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-53_4485-52del,,c.4485-53_4485-52del,intron_variant,,,,1,1365218,7.324837498480096e-7,0,0,,,0.537,,0.00,-0.0200,-0.00200,,,0,31382,0,0,0,43340,0,0,0,25458,0,0,0,39060,0,0,0,52132,0,0,0,4856,0,0,1,1028532,0,0,,,,,0,83370,0,0,0,57088,0,0 +17-43074573-A-C,17,43074573,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-52T>G,,c.4485-52T>G,intron_variant,,,,3,1363818,0.0000021997069990277297,0,0,nfe,7.799999999999999e-7,2.02,,0.00,-0.0200,-0.309,,,0,31358,0,0,0,43296,0,0,0,25436,0,0,0,39042,0,0,0,52172,0,0,0,4822,0,0,3,1027332,0,0,,,,,0,83330,0,0,0,57030,0,0 +17-43074574-A-G,17,43074574,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-53T>C,,c.4485-53T>C,intron_variant,,,,1,617994,0.0000016181386874306223,0,0,,,0.100,,0.00,-0.0100,-0.708,,,0,17504,0,0,0,42222,0,0,0,20818,0,0,0,35790,0,0,0,51776,0,0,0,3300,0,0,1,345422,0,0,,,,,0,68518,0,0,0,32644,0,0 +17-43074574-AATC-A,17,43074574,rs2052622245,AATC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-56_4485-54del,,c.4485-56_4485-54del,intron_variant,,,,1,617994,0.0000016181386874306223,0,0,,,4.41,,0.00,-0.0200,-0.708,,,0,17504,0,0,0,42222,0,0,0,20818,0,0,0,35790,0,0,0,51776,0,0,0,3300,0,0,1,345422,0,0,,,,,0,68518,0,0,0,32644,0,0 +17-43074576-T-C,17,43074576,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-55A>G,,c.4485-55A>G,intron_variant,,,,1,1361928,7.342532057494963e-7,0,0,,,6.95,,0.00,-0.0100,0.0980,,,0,31254,0,0,0,42606,0,0,0,25412,0,0,0,38904,0,0,0,51662,0,0,0,4640,0,0,1,1027524,0,0,,,,,0,82962,0,0,0,56964,0,0 +17-43074578-A-T,17,43074578,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-57T>A,,c.4485-57T>A,intron_variant,,,,1,1358570,7.360680715752593e-7,0,0,,,5.00,,0.00,-0.0300,0.563,,,0,31194,0,0,0,42456,0,0,0,25378,0,0,0,38902,0,0,0,51506,0,0,0,4594,0,0,1,1024916,0,0,,,,,0,82826,0,0,0,56798,0,0 +17-43074578-A-G,17,43074578,rs1408338844,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-57T>C,,c.4485-57T>C,intron_variant,,,,23,1510830,0.000015223420239206264,0,0,nfe,0.00001401,6.14,,0.00,-0.0200,0.563,,,0,72668,0,0,0,57742,0,0,0,28848,0,0,0,44108,0,0,0,62130,0,0,0,4910,0,0,23,1092962,0,0,0,912,0,0,0,87660,0,0,0,58890,0,0 +17-43074580-ACT-A,17,43074580,,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-61_4485-60del,,c.4485-61_4485-60del,intron_variant,,,,1,1346986,7.42398213492939e-7,0,0,,,4.99,,0.00,-0.0100,0.808,,,0,30942,0,0,0,42126,0,0,0,25322,0,0,0,38772,0,0,0,51274,0,0,0,4514,0,0,1,1015210,0,0,,,,,0,82428,0,0,0,56398,0,0 +17-43074581-C-G,17,43074581,rs1335701202,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4485-60G>C,,c.4485-60G>C,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,7.16,,0.00,-0.0100,0.443,,,0,41462,0,0,0,15284,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43074581-C-T,17,43074581,rs1335701202,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-60G>A,,c.4485-60G>A,intron_variant,,,,6,1342334,0.0000044698264366394656,1,0,sas,0.00000403,7.54,,0.00,0.00,0.443,,,0,30794,0,0,0,41942,0,0,0,25278,0,0,0,38700,0,0,0,51164,0,0,0,4494,0,0,2,1011444,0,0,,,,,2,82296,0,0,2,56222,1,0 +17-43074582-T-C,17,43074582,rs2154026335,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-61A>G,,c.4485-61A>G,intron_variant,,,,1,1337108,7.478827439518723e-7,0,0,,,3.43,,0.0200,-0.0400,0.324,,,0,30714,0,0,0,41814,0,0,0,25238,0,0,0,38640,0,0,0,51000,0,0,0,4466,0,0,0,1007074,0,0,,,,,1,82068,0,0,0,56094,0,0 +17-43074583-T-C,17,43074583,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-62A>G,,c.4485-62A>G,intron_variant,,,,2,609298,0.0000032824660510948665,0,0,nfe,9.699999999999998e-7,12.8,,0.00,-0.0100,0.447,,,0,17242,0,0,0,40796,0,0,0,20732,0,0,0,35460,0,0,0,50656,0,0,0,3020,0,0,2,341380,0,0,,,,,0,67680,0,0,0,32332,0,0 +17-43074584-G-C,17,43074584,rs273900734,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-63C>G,,c.4485-63C>G,intron_variant,Benign,209374,,493340,1458920,0.33815425108984726,85314,0,sas,0.4945663799999999,3.09,,0.00,0.00,0.245,,,16778,71662,1974,0,18275,56384,2970,0,10441,28550,1886,0,15443,43506,2786,0,24179,60742,4768,0,1718,4560,342,0,343874,1049408,56220,0,257,906,40,0,42843,85940,10950,0,19532,57262,3378,0 +17-43074586-T-C,17,43074586,rs2154026405,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-65A>G,,c.4485-65A>G,intron_variant,,,,1,1282434,7.797672238883249e-7,0,0,,,0.0910,,0.00,0.0100,-5.21,,,0,29696,0,0,1,40526,0,0,0,24834,0,0,0,38066,0,0,0,49352,0,0,0,4126,0,0,0,961558,0,0,,,,,0,79894,0,0,0,54382,0,0 +17-43074588-G-A,17,43074588,rs2154026470,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-67C>T,,c.4485-67C>T,intron_variant,,,,1,1260760,7.931723722199309e-7,0,0,,,1.36,,0.00,0.00,0.977,,,0,29220,0,0,0,40064,0,0,0,24654,0,0,0,37768,0,0,0,48898,0,0,0,4064,0,0,1,943190,0,0,,,,,0,79220,0,0,0,53682,0,0 +17-43074589-G-A,17,43074589,rs1406666349,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-68C>T,,c.4485-68C>T,intron_variant,,,,1,1241078,8.057511292602076e-7,0,0,,,7.48,,0.00,0.00,0.919,,,0,28812,0,0,0,39782,0,0,0,24498,0,0,0,37600,0,0,0,48512,0,0,0,4012,0,0,1,926156,0,0,,,,,0,78714,0,0,0,52992,0,0 +17-43074593-C-T,17,43074593,rs942636280,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4485-72G>A,,c.4485-72G>A,intron_variant,,,,1,1232330,8.114709533972232e-7,0,0,,,1.04,,0.00,0.00,-0.0340,,,0,28608,0,0,1,39378,0,0,0,24446,0,0,0,37382,0,0,0,48044,0,0,0,3964,0,0,0,919470,0,0,,,,,0,78338,0,0,0,52700,0,0 +17-43074594-C-T,17,43074594,rs193221861,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-73G>A,,c.4485-73G>A,intron_variant,,,,3,1378836,0.000002175748239819674,0,0,eas,0.00001874,0.797,,0.00,0.0100,-0.0880,,,0,70040,0,0,0,54504,0,0,0,27888,0,0,3,42460,0,0,0,58478,0,0,0,4232,0,0,0,982704,0,0,0,912,0,0,0,83002,0,0,0,54616,0,0 +17-43074594-C-A,17,43074594,rs193221861,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4485-73G>T,,c.4485-73G>T,intron_variant,,,,7,1378714,0.000005077195125312429,0,0,nfe,0.0000022,0.499,,0.00,0.00,-0.0880,,,0,69918,0,0,1,54484,0,0,0,27888,0,0,0,42470,0,0,0,58478,0,0,0,4254,0,0,6,982710,0,0,0,912,0,0,0,83006,0,0,0,54594,0,0 +17-43076414-A-G,17,43076414,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+74T>C,,c.4484+74T>C,intron_variant,,,,2,621596,0.0000032175239222903623,0,0,,,17.4,,0.00,0.00,0.426,,,0,17510,0,0,0,43508,0,0,0,20882,0,0,0,35904,0,0,0,49384,0,0,0,4128,0,0,1,348234,0,0,,,,,1,69172,0,0,0,32874,0,0 +17-43076417-A-C,17,43076417,rs975503965,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+71T>G,,c.4484+71T>G,intron_variant,,,,65,1581662,0.00004109601166368036,0,0,nfe,0.00004525,14.7,,0.00,0.00,0.917,,,0,74148,0,0,0,59754,0,0,0,29372,0,0,0,44626,0,0,0,60658,0,0,0,6016,0,0,65,1154860,0,0,0,912,0,0,0,89946,0,0,0,61370,0,0 +17-43076418-A-G,17,43076418,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+70T>C,,c.4484+70T>C,intron_variant,,,,1,808230,0.000001237271568736622,0,0,,,9.73,,0.00,0.00,-0.176,,,0,15194,0,0,0,962,0,0,0,5008,0,0,0,3502,0,0,0,272,0,0,0,1574,0,0,1,739384,0,0,,,,,0,15914,0,0,0,26420,0,0 +17-43076420-T-C,17,43076420,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+68A>G,,c.4484+68A>G,intron_variant,,,,2,1433272,0.0000013954085477146,0,0,amr,0.0000074600000000000006,13.9,,0.00,0.00,0.195,,,0,32802,0,0,2,44464,0,0,0,25896,0,0,0,39430,0,0,0,50412,0,0,0,5710,0,0,0,1090016,0,0,,,,,0,85130,0,0,0,59412,0,0 +17-43076422-ACAAT-A,17,43076422,,ACAAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+62_4484+65del,,c.4484+62_4484+65del,intron_variant,,,,2,811608,0.000002464243822140738,0,0,,,6.95,,0.00,-0.0100,0.223,,,0,15290,0,0,0,964,0,0,0,5016,0,0,1,3526,0,0,0,274,0,0,0,1582,0,0,1,742406,0,0,,,,,0,16002,0,0,0,26548,0,0 +17-43076423-C-T,17,43076423,rs2052712941,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+65G>A,,c.4484+65G>A,intron_variant,,,,3,622952,0.000004815780349047759,0,0,nfe,0.00000229,5.95,,0.00,0.00,-1.11,,,0,17548,0,0,0,43534,0,0,0,20874,0,0,0,35898,0,0,0,50348,0,0,0,4132,0,0,3,348466,0,0,,,,,0,69254,0,0,0,32898,0,0 +17-43076424-A-G,17,43076424,rs764567792,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+64T>C,,c.4484+64T>C,intron_variant,,,,18,1439060,0.000012508165052186844,0,0,amr,0.0002602100000000002,7.89,,0.00,0.00,-0.462,,,0,32936,0,0,18,44582,0,0,0,25946,0,0,0,39474,0,0,0,50816,0,0,0,5728,0,0,0,1094568,0,0,,,,,0,85412,0,0,0,59598,0,0 +17-43076427-C-A,17,43076427,rs80358185,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+61G>T,,c.4484+61G>T,intron_variant,Uncertain significance,125714,,93,1593936,0.00005834613183967236,3,0,eas,0.0003146500000000001,0.302,,0.00,0.00,-1.15,,,0,74398,0,0,2,59846,0,0,0,29436,0,0,21,44650,1,0,0,61684,0,0,0,6042,0,0,1,1164936,0,0,0,912,0,0,0,90282,0,0,69,61750,2,0 +17-43076429-G-C,17,43076429,rs2154055013,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+59C>G,,c.4484+59C>G,intron_variant,,,,1,624718,0.0000016007222458773399,0,0,,,13.1,,0.00,0.00,0.672,,,0,17618,0,0,0,43662,0,0,0,20920,0,0,0,35918,0,0,0,51040,0,0,0,4136,0,0,0,349078,0,0,,,,,1,69400,0,0,0,32946,0,0 +17-43076430-A-C,17,43076430,rs1567779386,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+58T>G,,c.4484+58T>G,intron_variant,,,,2,777286,0.0000025730554776491535,0,0,,,14.6,,0.00,0.00,0.263,,,0,59054,0,0,2,58920,0,0,0,24412,0,0,0,41150,0,0,0,61824,0,0,0,4454,0,0,0,417222,0,0,0,912,0,0,0,74276,0,0,0,35062,0,0 +17-43076433-T-G,17,43076433,rs1393968728,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+55A>C,,c.4484+55A>C,intron_variant,,,,3,777786,0.000003857102082063704,0,0,amr,0.0000135,7.14,,0.00,0.00,0.0670,,,0,59068,0,0,3,58968,0,0,0,24402,0,0,0,41152,0,0,0,62026,0,0,0,4454,0,0,0,417314,0,0,0,912,0,0,0,74418,0,0,0,35072,0,0 +17-43076437-TATAA-T,17,43076437,rs1567779394,TATAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+47_4484+50del,,c.4484+47_4484+50del,intron_variant,,,,1,1452280,6.885724515933566e-7,0,0,,,8.09,,0.00,-0.0100,-0.175,,,0,33266,0,0,1,44682,0,0,0,26050,0,0,0,39558,0,0,0,51992,0,0,0,5748,0,0,0,1105000,0,0,,,,,0,85952,0,0,0,60032,0,0 +17-43076437-T-C,17,43076437,rs774226893,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+51A>G,,c.4484+51A>G,intron_variant,,,,13,1452280,0.000008951441870713636,0,0,sas,0.00008914999999999999,11.3,,0.00,0.00,-0.175,,,0,33266,0,0,0,44682,0,0,0,26050,0,0,0,39558,0,0,0,51992,0,0,0,5748,0,0,0,1105000,0,0,,,,,13,85952,0,0,0,60032,0,0 +17-43076439-TA-T,17,43076439,rs1442390657,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+48del,,c.4484+48del,intron_variant,,,,3,1605086,0.0000018690587295634003,0,0,,,5.94,,0.00,0.0100,-0.493,,,2,74712,0,0,0,59946,0,0,0,29522,0,0,0,44760,0,0,0,62718,0,0,0,6066,0,0,0,1173486,0,0,0,912,0,0,0,90800,0,0,1,62164,0,0 +17-43076439-T-C,17,43076439,rs1003467345,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+49A>G,,c.4484+49A>G,intron_variant,,,,9,1452966,0.000006194226155326415,0,0,nfe,0.00000383,4.70,,0.00,0.00,-0.493,,,0,33292,0,0,0,44672,0,0,0,26056,0,0,0,39556,0,0,0,52120,0,0,0,5750,0,0,9,1105476,0,0,,,,,0,85970,0,0,0,60074,0,0 +17-43076440-A-T,17,43076440,rs1455609077,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+48T>A,,c.4484+48T>A,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,9.12,,0.00,0.00,0.0190,,,1,41442,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43076441-A-C,17,43076441,rs1179301200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+47T>G,,c.4484+47T>G,intron_variant,,,,5,1454460,0.0000034377019649904433,0,0,nfe,0.0000013199999999999999,11.2,,0.00,0.00,1.19,,,0,33324,0,0,0,44690,0,0,0,26068,0,0,0,39586,0,0,0,52214,0,0,0,5754,0,0,5,1106684,0,0,,,,,0,86020,0,0,0,60120,0,0 +17-43076444-A-G,17,43076444,rs1034217286,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+44T>C,,c.4484+44T>C,intron_variant,,,,4,152174,0.000026285699265314706,0,0,afr,0.00003249,13.4,,0.0100,-0.0100,-0.101,,,4,41446,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43076447-G-A,17,43076447,rs931573413,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+41C>T,,c.4484+41C>T,intron_variant,,,,1,626846,0.0000015952881568997809,0,0,,,1.44,,0.00,0.00,-0.0490,,,1,17660,0,0,0,43710,0,0,0,20948,0,0,0,35954,0,0,0,52134,0,0,0,4142,0,0,0,349572,0,0,,,,,0,69688,0,0,0,33038,0,0 +17-43076448-A-T,17,43076448,rs1159005094,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+40T>A,,c.4484+40T>A,intron_variant,Likely benign,993862,,7,1608816,0.000004351025847579835,0,0,afr,0.00001065,1.52,,0.00,0.00,0.0260,,,3,74804,0,0,0,59950,0,0,0,29542,0,0,0,44792,0,0,0,63108,0,0,0,6072,0,0,3,1176396,0,0,0,912,0,0,0,90926,0,0,1,62314,0,0 +17-43076449-T-C,17,43076449,rs371380546,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+39A>G,,c.4484+39A>G,intron_variant,Benign,1697603,,101,1609302,0.0000627601283040722,0,0,afr,0.0010492399999999995,0.316,,0.00,0.00,-1.99,,,94,74950,0,0,3,59974,0,0,0,29540,0,0,0,44772,0,0,0,63154,0,0,0,6050,0,0,0,1176668,0,0,0,912,0,0,0,90930,0,0,4,62352,0,0 +17-43076453-A-G,17,43076453,rs767008841,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+35T>C,,c.4484+35T>C,intron_variant,,,,1,1457786,6.859717407081698e-7,0,0,,,4.51,,0.00,-0.0100,0.201,,,0,33398,0,0,1,44704,0,0,0,26092,0,0,0,39602,0,0,0,52676,0,0,0,5758,0,0,0,1109134,0,0,,,,,0,86148,0,0,0,60274,0,0 +17-43076454-G-C,17,43076454,rs2154055741,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+34C>G,,c.4484+34C>G,intron_variant,,,,1,627410,0.0000015938540985958144,0,0,,,2.51,,0.00,0.0300,0.633,,,0,17672,0,0,0,43730,0,0,0,20960,0,0,0,35976,0,0,0,52376,0,0,0,4144,0,0,1,349760,0,0,,,,,0,69740,0,0,0,33052,0,0 +17-43076455-A-C,17,43076455,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+33T>G,,c.4484+33T>G,intron_variant,,,,1,627570,0.0000015934477428812722,0,0,,,1.41,,0.0100,-0.0200,-0.213,,,0,17676,0,0,0,43726,0,0,0,20960,0,0,0,35982,0,0,0,52458,0,0,0,4144,0,0,1,349810,0,0,,,,,0,69754,0,0,0,33060,0,0 +17-43076456-T-C,17,43076456,rs1597838919,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+32A>G,,c.4484+32A>G,intron_variant,Likely benign,803411,,2,830840,0.000002407202349429493,0,0,,,1.70,,0.00,-0.0100,-1.84,,,0,15742,0,0,0,976,0,0,0,5136,0,0,0,3624,0,0,0,276,0,0,0,1616,0,0,1,759826,0,0,,,,,0,16414,0,0,1,27230,0,0 +17-43076457-A-T,17,43076457,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+31T>A,,c.4484+31T>A,intron_variant,,,,1,627704,0.0000015931075793686195,0,0,,,0.728,,0.00,-0.0100,-0.139,,,0,17676,0,0,0,43728,0,0,0,20962,0,0,0,35986,0,0,0,52548,0,0,0,4144,0,0,1,349836,0,0,,,,,0,69758,0,0,0,33066,0,0 +17-43076458-C-G,17,43076458,rs2154055804,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+30G>C,,c.4484+30G>C,intron_variant,,,,1,1459032,6.853859271078359e-7,0,0,,,1.43,,0.00,0.00,0.365,,,0,33428,0,0,0,44708,0,0,0,26096,0,0,0,39604,0,0,0,52816,0,0,0,5762,0,0,1,1110104,0,0,,,,,0,86198,0,0,0,60316,0,0 +17-43076459-C-G,17,43076459,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+29G>C,,c.4484+29G>C,intron_variant,,,,1,1458612,6.855832805434207e-7,0,0,,,0.862,,0.00,0.00,0.187,,,0,33418,0,0,0,44702,0,0,0,26088,0,0,0,39598,0,0,0,52848,0,0,0,5760,0,0,1,1109724,0,0,,,,,0,86186,0,0,0,60288,0,0 +17-43076459-C-T,17,43076459,rs2154055859,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+29G>A,,c.4484+29G>A,intron_variant,,,,2,1458612,0.0000013711665610868415,0,0,,,1.05,,0.00,0.00,0.187,,,1,33418,0,0,0,44702,0,0,0,26088,0,0,0,39598,0,0,0,52848,0,0,0,5760,0,0,1,1109724,0,0,,,,,0,86186,0,0,0,60288,0,0 +17-43076462-A-C,17,43076462,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+26T>G,,c.4484+26T>G,intron_variant,,,,1,627892,0.0000015926305797812364,0,0,,,8.18,,0.0100,-0.0100,2.45,,,0,17676,0,0,0,43730,0,0,0,20964,0,0,0,35994,0,0,0,52642,0,0,0,4144,0,0,0,349882,0,0,,,,,1,69782,0,0,0,33078,0,0 +17-43076466-T-G,17,43076466,rs2052715436,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+22A>C,,c.4484+22A>C,intron_variant,,,,2,1460422,0.0000013694671814037313,0,0,,,3.42,,0.00,0.00,0.456,,,1,33446,0,0,0,44714,0,0,0,26106,0,0,0,39626,0,0,0,52988,0,0,0,5762,0,0,1,1111202,0,0,,,,,0,86226,0,0,0,60352,0,0 +17-43076467-C-G,17,43076467,rs772578738,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>C,,c.4484+21G>C,intron_variant,,,,2,1460396,0.000001369491562562483,0,0,,,1.99,,0.00,0.00,0.580,,,0,33454,0,0,1,44716,0,0,0,26108,0,0,0,39622,0,0,0,52974,0,0,0,5764,0,0,0,1111182,0,0,,,,,1,86222,0,0,0,60354,0,0 +17-43076467-C-T,17,43076467,rs772578738,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>A,,c.4484+21G>A,intron_variant,,,,1,1460396,6.847457812812415e-7,0,0,,,2.38,,0.00,0.00,0.580,,,0,33454,0,0,0,44716,0,0,0,26108,0,0,1,39622,0,0,0,52974,0,0,0,5764,0,0,0,1111182,0,0,,,,,0,86222,0,0,0,60354,0,0 +17-43076467-C-A,17,43076467,rs772578738,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+21G>T,,c.4484+21G>T,intron_variant,,,,4,1460396,0.000002738983125124966,0,0,amr,0.00001779,1.84,,0.00,0.00,0.580,,,0,33454,0,0,3,44716,0,0,0,26108,0,0,0,39622,0,0,0,52974,0,0,0,5764,0,0,1,1111182,0,0,,,,,0,86222,0,0,0,60354,0,0 +17-43076472-C-T,17,43076472,rs1369751677,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4484+16G>A,,c.4484+16G>A,intron_variant,Likely benign,462652,,1,152098,0.000006574708411681942,0,0,,,1.85,,0.00,0.00,0.580,,,0,41414,0,0,0,15252,0,0,0,3472,0,0,0,5192,0,0,0,10604,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 +17-43076472-C-A,17,43076472,rs1369751677,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+16G>T,,c.4484+16G>T,intron_variant,,,,3,628016,0.000004776948358003618,0,0,,,1.42,,0.00,0.00,0.580,,,0,17674,0,0,0,43738,0,0,0,20968,0,0,0,35994,0,0,3,52770,0,0,0,4144,0,0,0,349878,0,0,,,,,0,69782,0,0,0,33068,0,0 +17-43076473-A-G,17,43076473,rs760275914,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+15T>C,,c.4484+15T>C,intron_variant,Likely benign,415562,,12,1613106,0.000007439064760778275,0,0,nfe,0.000005,3.22,,0.00,-0.0200,0.454,,,0,74890,0,0,0,59974,0,0,0,29578,0,0,0,44826,0,0,0,63736,0,0,0,6080,0,0,11,1179578,0,0,0,912,0,0,0,91074,0,0,1,62458,0,0 +17-43076474-T-C,17,43076474,rs80358022,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4484+14A>G,,c.4484+14A>G,intron_variant,Benign,55210,,483,1613144,0.0002994153032835258,0,0,eas,0.007991179999999988,2.33,,0.0100,-0.0200,-0.665,,,0,75024,0,0,2,59994,0,0,0,29586,0,0,390,44810,0,0,1,63716,0,0,0,6058,0,0,10,1179504,0,0,0,912,0,0,48,91062,0,0,32,62478,0,0 +17-43076475-T-A,17,43076475,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+13A>T,,c.4484+13A>T,intron_variant,,,,1,628162,0.000001591946026661912,0,0,,,5.19,,0.00,0.00,0.433,,,0,17680,0,0,0,43738,0,0,0,20966,0,0,0,36006,0,0,0,52860,0,0,0,4144,0,0,1,349906,0,0,,,,,0,69788,0,0,0,33074,0,0 +17-43076482-T-G,17,43076482,rs879255297,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+6A>C,,c.4484+6A>C,intron_variant,Uncertain significance,252403,,3,628294,0.000004774834711138416,0,0,amr,0.00001819,13.5,,0.0200,0.00,1.31,,,0,17680,0,0,3,43738,0,0,0,20970,0,0,0,36014,0,0,0,52924,0,0,0,4144,0,0,0,349950,0,0,,,,,0,69790,0,0,0,33084,0,0 +17-43076485-T-C,17,43076485,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4484+3A>G,,c.4484+3A>G,intron_variant,,,,1,833038,0.0000012004254307726659,0,0,,,18.4,,0.150,-0.160,2.91,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43076485-T-TACCTTTCC,17,43076485,,T,TACCTTTCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4479_4484+2dup,,c.4479_4484+2dup,splice_region_variant,,,,1,833038,0.0000012004254307726659,0,0,,,14.5,,0.970,-0.890,2.91,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43076488-C-A,17,43076488,rs80357389,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1495Met,p.Arg1495Met,c.4484G>T,missense_variant,Pathogenic,37598,,4,1461350,0.000002737195059362918,0,0,nfe,8.4e-7,35.0,0.702,0.600,-0.720,7.02,0.0100,0.215,0,33464,0,0,0,44720,0,0,0,26124,0,0,0,39644,0,0,0,53222,0,0,0,5764,0,0,4,1111784,0,0,,,,,0,86248,0,0,0,60380,0,0 +17-43076489-T-C,17,43076489,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1495Gly,p.Arg1495Gly,c.4483A>G,missense_variant,,,,1,833044,0.0000012004167847076506,0,0,,,24.3,0.626,0.200,-0.230,1.03,0.210,0.0490,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761846,0,0,,,,,0,16456,0,0,0,27296,0,0 +17-43076491-T-C,17,43076491,rs758779691,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1494Gly,p.Glu1494Gly,c.4481A>G,missense_variant,Uncertain significance,481436,,5,628372,0.000007957070015850484,0,0,sas,0.00000476,14.0,0.492,0.0900,-0.0700,-0.113,0.400,0.00,0,17680,0,0,0,43738,0,0,0,20972,0,0,0,36014,0,0,0,52980,0,0,0,4144,0,0,3,349970,0,0,,,,,2,69790,0,0,0,33084,0,0 +17-43076492-C-T,17,43076492,rs80357148,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1494Lys,p.Glu1494Lys,c.4480G>A,missense_variant,Conflicting interpretations of pathogenicity,55208,,6,1613496,0.0000037186333278793377,0,0,afr,0.000025510000000000005,11.3,0.633,0.00,0.0100,1.48,0.460,0.0490,5,74874,0,0,0,59982,0,0,0,29592,0,0,0,44842,0,0,0,63834,0,0,0,6080,0,0,1,1179844,0,0,0,912,0,0,0,91072,0,0,0,62464,0,0 +17-43076492-C-A,17,43076492,rs80357148,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1494Ter,p.Glu1494Ter,c.4480G>T,stop_gained,Pathogenic,55209,lof_flag,2,1461410,0.0000013685413402125345,0,0,,,35.0,,0.0300,-0.0900,1.48,,,0,33464,0,0,0,44720,0,0,0,26124,0,0,0,39646,0,0,2,53248,0,0,0,5764,0,0,0,1111820,0,0,,,,,0,86244,0,0,0,60380,0,0 +17-43076494-A-T,17,43076494,rs2154057576,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1493Glu,p.Val1493Glu,c.4478T>A,missense_variant,,,,1,628392,0.0000015913633528116208,0,0,,,9.03,0.254,0.00,-0.0200,-0.0820,0.890,0.0310,0,17680,0,0,0,43738,0,0,0,20974,0,0,0,36016,0,0,1,52982,0,0,0,4144,0,0,0,349984,0,0,,,,,0,69790,0,0,0,33084,0,0 +17-43076496-T-G,17,43076496,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1492Gly,p.Gly1492Gly,c.4476A>C,synonymous_variant,,,,1,833036,0.000001200428312822015,0,0,,,9.63,,0.00,0.00,0.462,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761838,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43076501-G-A,17,43076501,rs111034213,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1491Ser,p.Pro1491Ser,c.4471C>T,missense_variant,Uncertain significance,801076,,2,1461440,0.0000013685132472082329,0,0,nfe,2.999999999999999e-7,14.5,0.174,0.0500,-0.0500,0.164,0.320,0.00300,0,33470,0,0,0,44720,0,0,0,26126,0,0,0,39638,0,0,0,53262,0,0,0,5762,0,0,2,1111832,0,0,,,,,0,86246,0,0,0,60384,0,0 +17-43076504-C-T,17,43076504,rs138608489,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1490Lys,p.Glu1490Lys,c.4468G>A,missense_variant,,,,1,628436,0.000001591251933371099,0,0,,,24.8,0.218,0.0900,-0.0500,4.85,0.00,0.00600,0,17686,0,0,0,43736,0,0,0,20974,0,0,1,36012,0,0,0,53024,0,0,0,4144,0,0,0,349988,0,0,,,,,0,69788,0,0,0,33084,0,0 +17-43076507-T-C,17,43076507,rs2052721149,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1489Glu,p.Lys1489Glu,c.4465A>G,missense_variant,Uncertain significance,951096,,1,833060,0.000001200393729143159,0,0,,,14.2,0.239,0.00,0.0100,0.0800,0.400,0.0380,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43076515-C-T,17,43076515,rs577465138,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1486Asn,p.Ser1486Asn,c.4457G>A,missense_variant,Likely benign,1275856,,2,780564,0.0000025622498603573825,0,0,,,1.64,0.205,0.0600,-0.0200,0.0100,0.100,0.00300,0,59092,0,0,0,58972,0,0,0,24438,0,0,0,41208,0,0,0,63664,0,0,0,4460,0,0,2,418024,0,0,0,912,0,0,0,74620,0,0,0,35174,0,0 +17-43076516-T-A,17,43076516,rs397507232,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1486Cys,p.Ser1486Cys,c.4456A>T,missense_variant,Uncertain significance,37593,,1,628504,0.0000015910797703753675,0,0,,,22.1,0.244,0.0300,-0.0200,0.0720,0.0100,0.628,0,17686,0,0,0,43738,0,0,0,20976,0,0,1,36014,0,0,0,53064,0,0,0,4144,0,0,0,350004,0,0,,,,,0,69790,0,0,0,33088,0,0 +17-43076518-G-A,17,43076518,rs80356870,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1485Ile,p.Thr1485Ile,c.4454C>T,missense_variant,Conflicting interpretations of pathogenicity,55203,,1,628500,0.0000015910898965791567,0,0,,,9.28,0.186,0.120,-0.0900,0.653,0.100,0.216,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53056,0,0,0,4144,0,0,0,350010,0,0,,,,,1,69790,0,0,0,33086,0,0 +17-43076523-A-T,17,43076523,rs1555582581,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Arg,p.Ser1483Arg,c.4449T>A,missense_variant,Uncertain significance,441497,,1,628504,0.0000015910797703753675,0,0,,,9.68,0.287,0.00,-0.0100,0.823,0.220,0.0180,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53058,0,0,0,4144,0,0,0,350010,0,0,,,,,1,69790,0,0,0,33088,0,0 +17-43076524-C-G,17,43076524,rs2052724227,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Thr,p.Ser1483Thr,c.4448G>C,missense_variant,,,,1,833076,0.0000012003706744642745,0,0,,,1.90,0.274,0.00,0.0100,-0.414,0.350,0.0370,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761872,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43076525-T-G,17,43076525,rs1555582583,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1483Arg,p.Ser1483Arg,c.4447A>C,missense_variant,Uncertain significance,441440,,2,628514,0.000003182108910859583,0,0,nfe,9.5e-7,1.71,0.271,0.00,0.0100,-1.00,0.220,0.0180,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53068,0,0,0,4144,0,0,2,350014,0,0,,,,,0,69790,0,0,0,33086,0,0 +17-43076529-T-C,17,43076529,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1481Ala,p.Ala1481Ala,c.4443A>G,synonymous_variant,Uncertain significance,2681812,,2,628518,0.000003182088659354227,0,0,sas,0.00000476,3.68,,0.00,0.0100,0.0800,,,0,17684,0,0,0,43736,0,0,0,20976,0,0,0,36016,0,0,0,53070,0,0,0,4144,0,0,0,350014,0,0,,,,,2,69790,0,0,0,33088,0,0 +17-43076530-G-C,17,43076530,rs2052726464,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1481Gly,p.Ala1481Gly,c.4442C>G,missense_variant,,,,1,628478,0.0000015911455930040512,0,0,,,3.40,0.262,0.00,0.0100,0.526,0.570,0.0730,0,17682,0,0,0,43738,0,0,0,20976,0,0,0,36014,0,0,0,53054,0,0,0,4144,0,0,0,350000,0,0,,,,,1,69790,0,0,0,33080,0,0 +17-43076533-G-A,17,43076533,rs781746476,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1480Phe,p.Ser1480Phe,c.4439C>T,missense_variant,,,,2,628500,0.0000031821797931583135,0,0,sas,0.00000476,14.9,0.203,0.0300,-0.0300,1.90,0.100,0.00500,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53052,0,0,0,4144,0,0,0,350012,0,0,,,,,2,69790,0,0,0,33088,0,0 +17-43076541-A-C,17,43076541,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1477Leu,p.Phe1477Leu,c.4431T>G,missense_variant,,,,1,832902,0.0000012006214416582024,0,0,,,3.15,0.270,0.00,0.0200,0.168,0.150,0.00,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761704,0,0,,,,,0,16456,0,0,0,27298,0,0 +17-43076544-C-T,17,43076544,rs1057522527,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1476Lys,p.Lys1476Lys,c.4428G>A,synonymous_variant,Likely benign,386544,,2,1461392,0.000001368558196568751,0,0,,,5.11,,0.00,-0.0200,2.25,,,0,33468,0,0,0,44722,0,0,0,26128,0,0,0,39646,0,0,0,53350,0,0,0,5764,0,0,1,1111686,0,0,,,,,1,86244,0,0,0,60384,0,0 +17-43076545-T-G,17,43076545,rs750437234,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1476Thr,p.Lys1476Thr,c.4427A>C,missense_variant,Uncertain significance,496384,,1,152178,0.000006571252086372537,0,0,,,24.2,0.264,0.00,-0.0100,1.75,,,0,41440,0,0,0,15254,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43076549-CAGCAGAA-C,17,43076549,,CAGCAGAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1473ThrfsTer30,p.Ser1473ThrfsTer30,c.4416_4422del,frameshift_variant,,,lof_flag,1,628518,0.0000015910443296771136,0,0,,,32.0,,0.00,-0.180,0.207,,,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36020,0,0,0,53066,0,0,0,4144,0,0,0,350016,0,0,,,,,1,69786,0,0,0,33088,0,0 +17-43076550-A-G,17,43076550,rs756281673,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1474Ala,p.Ala1474Ala,c.4422T>C,synonymous_variant,Likely benign,185731,,12,1613494,0.000007437275874592654,0,0,eas,0.00013703999999999998,6.31,,0.0600,0.0100,-0.772,,,0,74912,0,0,0,59984,0,0,0,29598,0,0,11,44846,0,0,0,63962,0,0,0,6080,0,0,0,1179650,0,0,0,912,0,0,0,91076,0,0,1,62474,0,0 +17-43076551-G-A,17,43076551,rs2154066200,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1474Val,p.Ala1474Val,c.4421C>T,missense_variant,,,,2,1461370,0.0000013685787993458194,0,0,nfe,2.999999999999999e-7,19.4,0.187,0.00,-0.0800,3.33,0.0900,0.0390,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39642,0,0,0,53314,0,0,0,5764,0,0,2,1111712,0,0,,,,,0,86244,0,0,0,60380,0,0 +17-43076553-A-T,17,43076553,rs730881455,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1473Ser,p.Ser1473Ser,c.4419T>A,synonymous_variant,Likely benign,182096,,12,1613644,0.0000074365845254591475,0,0,nfe,0.00000542,11.1,,0.00,0.0100,2.87,,,0,74920,0,0,0,59976,0,0,0,29596,0,0,0,44842,0,0,0,63964,0,0,0,6080,0,0,12,1179810,0,0,0,912,0,0,0,91072,0,0,0,62472,0,0 +17-43076555-A-G,17,43076555,rs398122686,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1473Pro,p.Ser1473Pro,c.4417T>C,missense_variant,Uncertain significance,91630,,2,985162,0.0000020301229645479627,0,0,,,23.5,0.250,0.0400,0.0200,1.35,0.200,0.00300,0,57228,0,0,0,16256,0,0,0,8622,0,0,0,8830,0,0,0,10894,0,0,0,1936,0,0,2,829806,0,0,0,912,0,0,0,21290,0,0,0,29388,0,0 +17-43076556-A-G,17,43076556,rs780239567,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Leu,p.Leu1472Leu,c.4416T>C,synonymous_variant,Likely benign,427342,,1,628506,0.0000015910747073218077,0,0,,,8.64,,0.0200,0.0100,0.512,,,0,17682,0,0,0,43738,0,0,0,20976,0,0,0,36012,0,0,0,53070,0,0,0,4144,0,0,0,350008,0,0,,,,,1,69788,0,0,0,33088,0,0 +17-43076558-G-C,17,43076558,rs200582930,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Val,p.Leu1472Val,c.4414C>G,missense_variant,,,,1,1461446,6.842538143728882e-7,0,0,,,14.1,0.254,0.0500,0.0200,-0.706,0.0800,0.107,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39640,0,0,0,53338,0,0,0,5764,0,0,1,1111762,0,0,,,,,0,86242,0,0,0,60386,0,0 +17-43076558-G-A,17,43076558,rs200582930,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1472Phe,p.Leu1472Phe,c.4414C>T,missense_variant,Uncertain significance,41824,,1,1461446,6.842538143728882e-7,0,0,,,15.5,0.219,0.00,-0.0100,-0.706,0.0600,0.564,0,33464,0,0,1,44722,0,0,0,26128,0,0,0,39640,0,0,0,53338,0,0,0,5764,0,0,0,1111762,0,0,,,,,0,86242,0,0,0,60386,0,0 +17-43076559-GC-G,17,43076559,rs1064793951,GC,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1471AlafsTer34,p.Gly1471AlafsTer34,c.4412del,frameshift_variant,Pathogenic,419556,lof_flag,1,152060,0.000006576351440220966,0,0,,,23.0,,0.00,-0.190,1.55,,,0,41386,0,0,1,15250,0,0,0,3470,0,0,0,5192,0,0,0,10592,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 +17-43076562-T-C,17,43076562,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Glu,p.Glu1470Glu,c.4410A>G,synonymous_variant,Likely benign,2034712,,1,1461416,6.842678607597016e-7,0,0,,,8.65,,0.00,-0.0600,-0.0870,,,0,33466,0,0,0,44720,0,0,0,26126,0,0,0,39642,0,0,0,53350,0,0,0,5764,0,0,1,1111720,0,0,,,,,0,86246,0,0,0,60382,0,0 +17-43076562-T-A,17,43076562,rs80357075,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1470Asp,p.Glu1470Asp,c.4410A>T,missense_variant,Conflicting interpretations of pathogenicity,89064,,46,1613734,0.00002850531748107185,0,0,amr,0.00048765000000000006,22.4,0.178,0.00,0.0100,-0.0870,0.120,0.0260,0,75030,0,0,39,60018,0,0,0,29594,0,0,0,44832,0,0,0,63970,0,0,0,6058,0,0,0,1179750,0,0,0,912,0,0,0,91074,0,0,7,62496,0,0 +17-43076563-T-C,17,43076563,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Gly,p.Glu1470Gly,c.4409A>G,missense_variant,,,,1,628514,0.0000015910544554297915,0,0,,,21.9,0.231,0.00,-0.0400,1.09,0.0600,0.0260,0,17684,0,0,0,43738,0,0,0,20976,0,0,0,36012,0,0,0,53074,0,0,0,4144,0,0,0,350008,0,0,,,,,0,69790,0,0,1,33088,0,0 +17-43076564-C-A,17,43076564,rs886040230,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1470Ter,p.Glu1470Ter,c.4408G>T,stop_gained,Pathogenic,266475,lof_flag,1,832954,0.0000012005464887616843,0,0,,,36.0,,0.420,-0.570,1.01,,,1,15780,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761762,0,0,,,,,0,16454,0,0,0,27298,0,0 +17-43076569-T-C,17,43076569,rs778707598,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1468Ser,p.Asn1468Ser,c.4403A>G,missense_variant,,,,3,628510,0.000004773193743934067,0,0,sas,0.00001141,16.5,0.172,0.00,-0.0200,1.49,0.460,0.00,0,17684,0,0,0,43740,0,0,0,20976,0,0,0,36012,0,0,0,53064,0,0,0,4144,0,0,0,350012,0,0,,,,,3,69790,0,0,0,33088,0,0 +17-43076570-T-C,17,43076570,rs80357022,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1468Asp,p.Asn1468Asp,c.4402A>G,missense_variant,Uncertain significance,37591,,3,1613732,0.0000018590447484464582,0,0,sas,0.00000875,20.7,0.217,0.0600,0.0100,2.23,0.0600,0.0260,0,75006,0,0,0,60014,0,0,0,29594,0,0,0,44828,0,0,0,63962,0,0,0,6058,0,0,0,1179788,0,0,0,912,0,0,3,91078,0,0,0,62492,0,0 +17-43076570-T-G,17,43076570,rs80357022,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1468His,p.Asn1468His,c.4402A>C,missense_variant,Benign,55193,,27,1613614,0.000016732626266256985,0,0,nfe,0.00001298,22.9,0.219,0.0300,0.0200,2.23,0.00,0.275,1,74884,0,0,0,59994,0,0,0,29594,0,0,0,44840,0,0,0,63962,0,0,0,6080,0,0,23,1179796,0,0,0,912,0,0,0,91082,0,0,3,62470,0,0 +17-43076572-TG-T,17,43076572,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1467ArgfsTer38,p.Gln1467ArgfsTer38,c.4399del,frameshift_variant,,,lof_flag,1,832962,0.000001200534958377453,0,0,,,25.5,,0.160,-0.270,-1.00,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761774,0,0,,,,,0,16456,0,0,1,27290,0,0 +17-43076576-T-A,17,43076576,rs1064794830,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1466Cys,p.Ser1466Cys,c.4396A>T,missense_variant,Uncertain significance,420981,,1,832942,0.00000120056378475332,0,0,,,23.3,0.244,0.0100,0.0200,2.32,0.00,0.293,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761748,0,0,,,,,0,16454,0,0,0,27296,0,0 +17-43076576-T-G,17,43076576,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1466Arg,p.Ser1466Arg,c.4396A>C,missense_variant,,,,1,832942,0.00000120056378475332,0,0,,,21.7,0.209,0.0900,0.0600,2.32,0.0300,0.00,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761748,0,0,,,,,0,16454,0,0,0,27296,0,0 +17-43076579-T-C,17,43076579,rs1567779778,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1465Val,p.Ile1465Val,c.4393A>G,missense_variant,Conflicting interpretations of pathogenicity,801075,,10,1461412,0.000006842697336548489,0,0,nfe,0.00000381,0.547,0.276,0.110,0.0600,-3.30,1.00,0.00,1,33466,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,9,1111762,0,0,,,,,0,86242,0,0,0,60382,0,0 +17-43076580-A-AG,17,43076580,rs80357916,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1465TyrfsTer11,p.Ile1465TyrfsTer11,c.4391dup,frameshift_variant,Pathogenic,55189,lof_flag,1,1461416,6.842678607597016e-7,0,0,,,31.0,,0.130,-0.160,1.76,,,0,33462,0,0,0,44724,0,0,0,26124,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,1,1111768,0,0,,,,,0,86242,0,0,0,60382,0,0 +17-43076580-A-T,17,43076580,rs794727102,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1464Pro,p.Pro1464Pro,c.4392T>A,synonymous_variant,Likely benign,194243,,1,1461416,6.842678607597016e-7,0,0,,,10.7,,0.0400,0.0300,1.76,,,0,33462,0,0,0,44724,0,0,0,26124,0,0,0,39638,0,0,0,53312,0,0,0,5764,0,0,0,1111768,0,0,,,,,0,86242,0,0,1,60382,0,0 +17-43076582-G-C,17,43076582,rs1259139517,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1464Ala,p.Pro1464Ala,c.4390C>G,missense_variant,Uncertain significance,639775,,15,1461306,0.000010264790536684309,0,0,nfe,0.0000081,21.5,0.140,0.120,0.0200,3.33,0.120,0.00300,0,33464,0,0,0,44722,0,0,0,26124,0,0,0,39636,0,0,0,53300,0,0,0,5764,0,0,15,1111678,0,0,,,,,0,86240,0,0,0,60378,0,0 +17-43076583-G-A,17,43076583,rs80356997,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr1463Tyr,p.Tyr1463Tyr,c.4389C>T,synonymous_variant,Likely benign,824851,,4,1613328,0.000002479347039163766,0,0,nfe,6.800000000000001e-7,3.31,,0.0300,0.00,0.701,,,0,74844,0,0,0,59990,0,0,0,29596,0,0,0,44836,0,0,0,63866,0,0,0,6078,0,0,3,1179698,0,0,0,912,0,0,1,91050,0,0,0,62458,0,0 +17-43076585-A-G,17,43076585,rs1163509151,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1463His,p.Tyr1463His,c.4387T>C,missense_variant,Uncertain significance,1416615,,1,628438,0.0000015912468692217848,0,0,,,12.0,0.183,0.0800,0.0300,0.767,0.400,0.00,0,17682,0,0,0,43740,0,0,0,20974,0,0,1,36008,0,0,0,53024,0,0,0,4144,0,0,0,349990,0,0,,,,,0,69790,0,0,0,33086,0,0 +17-43076587-T-G,17,43076587,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1462Ala,p.Glu1462Ala,c.4385A>C,missense_variant,,,,1,832966,0.0000012005291932683927,0,0,,,19.8,0.213,0.0600,-0.0300,1.04,0.130,0.0230,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761776,0,0,,,,,0,16456,0,0,0,27294,0,0 +17-43076588-C-T,17,43076588,rs141255461,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1462Lys,p.Glu1462Lys,c.4384G>A,missense_variant,Uncertain significance,194244,,1,152064,0.000006576178451178451,0,0,,,22.7,0.168,0.00,-0.0800,1.29,,,1,41394,0,0,0,15250,0,0,0,3466,0,0,0,5202,0,0,0,10596,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4820,0,0,0,2090,0,0 +17-43076589-A-T,17,43076589,rs431825408,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1461Arg,p.Ser1461Arg,c.4383T>A,missense_variant,Uncertain significance,96932,,2,1461412,0.0000013685394673096977,0,0,nfe,2.999999999999999e-7,12.5,0.200,0.0200,0.0400,0.452,0.190,0.00,0,33470,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53286,0,0,0,5764,0,0,2,1111782,0,0,,,,,0,86248,0,0,0,60378,0,0 +17-43076590-C-T,17,43076590,rs1555582692,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1461Asn,p.Ser1461Asn,c.4382G>A,missense_variant,Uncertain significance,2124828,,1,628414,0.0000015913076411410312,0,0,,,1.01,0.157,0.00,0.0700,0.0890,1.00,0.00,0,17684,0,0,0,43740,0,0,0,20974,0,0,0,36008,0,0,0,53000,0,0,0,4144,0,0,0,349988,0,0,,,,,1,69790,0,0,0,33086,0,0 +17-43076592-A-G,17,43076592,rs786203100,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1460Ser,p.Ser1460Ser,c.4380T>C,synonymous_variant,Likely benign,186631,,2,152180,0.000013142331449599158,0,0,afr,0.000008,10.2,,0.180,0.150,2.31,,,2,41432,0,0,0,15276,0,0,0,3468,0,0,0,5192,0,0,0,10618,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43076592-ACTT-A,17,43076592,rs2052742922,ACTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459_Ser1460delinsAsn,p.Lys1459_Ser1460delinsAsn,c.4377_4379del,inframe_deletion,Uncertain significance,849158,,3,1461356,0.000002052887865790403,0,0,sas,0.00000924,16.7,,0.0900,0.200,2.31,,,0,33468,0,0,0,44724,0,0,0,26122,0,0,0,39638,0,0,0,53268,0,0,0,5762,0,0,0,1111748,0,0,,,,,3,86248,0,0,0,60378,0,0 +17-43076593-C-T,17,43076593,rs397509167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1460Asn,p.Ser1460Asn,c.4379G>A,missense_variant,Uncertain significance,55185,,1,832998,0.0000012004830743891341,0,0,,,10.2,0.191,0.0800,0.0900,0.308,0.150,0.0810,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761794,0,0,,,,,0,16458,0,0,1,27298,0,0 +17-43076595-T-C,17,43076595,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Lys,p.Lys1459Lys,c.4377A>G,synonymous_variant,,,,1,833004,0.0000012004744274937455,0,0,,,9.93,,0.130,0.100,0.752,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761802,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43076596-T-C,17,43076596,rs1555582697,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Arg,p.Lys1459Arg,c.4376A>G,missense_variant,Uncertain significance,479194,,2,1461336,0.0000013686106412214577,0,0,,,23.3,0.269,0.00,0.0400,1.87,0.240,0.0550,0,33470,0,0,0,44722,0,0,0,26126,0,0,1,39636,0,0,0,53240,0,0,0,5764,0,0,1,1111752,0,0,,,,,0,86246,0,0,0,60380,0,0 +17-43076597-T-C,17,43076597,rs886040228,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1459Glu,p.Lys1459Glu,c.4375A>G,missense_variant,Uncertain significance,2111745,,1,832984,0.0000012005032509628036,0,0,,,24.9,0.228,0.460,0.410,4.81,0.280,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761784,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43076599-T-A,17,43076599,rs1377750822,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1458Leu,p.Gln1458Leu,c.4373A>T,missense_variant,Uncertain significance,934818,,2,152208,0.000013139913802165458,0,0,afr,0.000008,23.0,0.194,0.0500,0.0700,0.964,0.00,0.0100,2,41454,0,0,0,15274,0,0,0,3470,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43076600-G-C,17,43076600,rs80356932,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1458Glu,p.Gln1458Glu,c.4372C>G,missense_variant,Uncertain significance,950696,,1,1461212,6.84363391485972e-7,0,0,,,13.6,0.293,0.0700,0.110,1.70,1.00,0.00,0,33470,0,0,0,44722,0,0,0,26126,0,0,0,39636,0,0,0,53186,0,0,0,5764,0,0,0,1111688,0,0,,,,,0,86242,0,0,1,60378,0,0 +17-43076600-G-A,17,43076600,rs80356932,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1458Ter,p.Gln1458Ter,c.4372C>T,stop_gained,Pathogenic,55183,lof_flag,1,1461212,6.84363391485972e-7,0,0,,,37.0,,0.00,-0.320,1.70,,,0,33470,0,0,0,44722,0,0,0,26126,0,0,1,39636,0,0,0,53186,0,0,0,5764,0,0,0,1111688,0,0,,,,,0,86242,0,0,0,60378,0,0 +17-43076602-G-A,17,43076602,rs80357130,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1457Leu,p.Ser1457Leu,c.4370C>T,missense_variant,Uncertain significance,824837,,1,1461208,6.843652649041067e-7,0,0,,,26.9,0.279,0.450,0.480,2.78,0.0200,0.0180,0,33466,0,0,0,44724,0,0,0,26126,0,0,0,39632,0,0,0,53172,0,0,0,5764,0,0,1,1111706,0,0,,,,,0,86240,0,0,0,60378,0,0 +17-43076608-A-C,17,43076608,rs886040227,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1455Ter,p.Leu1455Ter,c.4364T>G,stop_gained,Pathogenic,266472,lof_flag,1,628214,0.0000015918142543782851,0,0,,,37.0,,0.140,0.0900,3.65,,,0,17678,0,0,0,43740,0,0,0,20972,0,0,0,35996,0,0,1,52880,0,0,0,4144,0,0,0,349936,0,0,,,,,0,69790,0,0,0,33078,0,0 +17-43076610-T-A,17,43076610,rs1467083210,T,A,gnomAD Exomes,PASS,NA,ENST00000461574.1,p.Val218Val,p.Val218Val,c.654A>T,splice_region_variant,Uncertain significance,2450660,,1,1461114,6.844092931831465e-7,0,0,,,9.72,,0.440,0.400,0.646,,,0,33464,0,0,0,44722,0,0,0,26122,0,0,0,39630,0,0,1,53136,0,0,0,5760,0,0,0,1111664,0,0,,,,,0,86244,0,0,0,60372,0,0 +17-43076610-T-C,17,43076610,rs1467083210,T,C,gnomAD Exomes,PASS,NA,ENST00000461574.1,p.Val218Val,p.Val218Val,c.654A>G,splice_region_variant,Likely benign,760435,,3,1461114,0.0000020532278795494395,0,0,nfe,7.200000000000001e-7,8.34,,0.140,0.00,0.646,,,0,33464,0,0,0,44722,0,0,0,26122,0,0,0,39630,0,0,0,53136,0,0,0,5760,0,0,3,1111664,0,0,,,,,0,86244,0,0,0,60372,0,0 +17-43076611-A-C,17,43076611,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1454Gly,p.Val1454Gly,c.4361T>G,missense_variant,,,,1,1461056,6.84436462394323e-7,0,0,,,19.1,0.270,0.130,0.200,-0.255,0.180,0.00,0,33464,0,0,0,44722,0,0,0,26120,0,0,1,39628,0,0,0,53100,0,0,0,5762,0,0,0,1111646,0,0,,,,,0,86242,0,0,0,60372,0,0 +17-43076611-A-G,17,43076611,rs587782606,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1454Ala,p.Val1454Ala,c.4361T>C,missense_variant,Conflicting interpretations of pathogenicity,142639,,6,1613236,0.0000037192326479200813,0,0,nfe,0.0000012399999999999998,17.7,0.257,0.00,0.120,-0.255,0.0300,0.0150,0,74916,0,0,0,59990,0,0,0,29590,0,0,0,44826,0,0,0,63718,0,0,0,6078,0,0,5,1179684,0,0,0,912,0,0,0,91060,0,0,1,62462,0,0 +17-43076615-CT-C,17,43076615,rs1353755235,CT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2del,,c.4358-2del,splice_acceptor_variant,Uncertain significance,841062,lof_flag,1,152002,0.0000065788608044630995,0,0,,,13.6,,0.0900,0.120,1.50,,,0,41376,0,0,0,15240,0,0,0,3472,0,0,0,5196,0,0,0,10576,0,0,0,316,0,0,1,68008,0,0,0,910,0,0,0,4818,0,0,0,2090,0,0 +17-43076624-G-A,17,43076624,rs80358111,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-10C>T,,c.4358-10C>T,intron_variant,Benign/Likely benign,125710,,390,1612410,0.0002418739650585149,0,0,amr,0.0008871700000000001,22.0,,0.100,0.0500,1.52,,,5,74984,0,0,66,59972,0,0,0,29578,0,0,0,44804,0,0,1,63378,0,0,0,6056,0,0,301,1179226,0,0,0,912,0,0,0,91032,0,0,17,62468,0,0 +17-43076627-T-C,17,43076627,rs1567780008,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-13A>G,,c.4358-13A>G,intron_variant,Conflicting interpretations of pathogenicity,681736,,1,832542,0.0000012011406031167197,0,0,,,13.8,,0.0200,0.0300,-0.173,,,0,15774,0,0,0,982,0,0,0,5144,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761376,0,0,,,,,0,16450,0,0,0,27290,0,0 +17-43076633-A-C,17,43076633,rs1357588437,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-19T>G,,c.4358-19T>G,intron_variant,,,,3,627300,0.000004782400765184122,0,0,sas,0.00001141,21.1,,0.140,0.180,1.71,,,0,17664,0,0,0,43730,0,0,0,20954,0,0,0,35988,0,0,0,52278,0,0,0,4142,0,0,0,349708,0,0,,,,,3,69778,0,0,0,33058,0,0 +17-43076635-C-A,17,43076635,rs776357552,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-21G>T,,c.4358-21G>T,intron_variant,,,,4,627060,0.000006378974898733773,0,0,nfe,0.00000228,13.9,,0.0400,0.0500,0.215,,,0,17664,0,0,0,43726,0,0,0,20954,0,0,0,35982,0,0,1,52146,0,0,0,4140,0,0,3,349626,0,0,,,,,0,69776,0,0,0,33046,0,0 +17-43076638-A-G,17,43076638,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-24T>C,,c.4358-24T>C,intron_variant,,,,1,831858,0.0000012021282478499937,0,0,,,18.1,,0.00,0.0500,4.66,,,0,15766,0,0,0,982,0,0,0,5146,0,0,0,3630,0,0,0,274,0,0,0,1620,0,0,1,760734,0,0,,,,,0,16446,0,0,0,27260,0,0 +17-43076640-C-G,17,43076640,rs2154075003,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-26G>C,,c.4358-26G>C,intron_variant,,,,1,1458274,6.857421856249237e-7,0,0,,,6.79,,0.0900,0.0500,0.770,,,0,33420,0,0,0,44706,0,0,0,26098,0,0,0,39608,0,0,0,52140,0,0,0,5758,0,0,1,1110068,0,0,,,,,0,86174,0,0,0,60302,0,0 +17-43076640-CTACTT-C,17,43076640,rs776362840,CTACTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-31_4358-27del,,c.4358-31_4358-27del,intron_variant,,,,9,1610494,0.000005588347426317639,0,0,nfe,0.00000292,13.5,,0.370,0.340,0.770,,,0,74948,0,0,0,59990,0,0,0,29570,0,0,0,44798,0,0,0,62730,0,0,0,6052,0,0,8,1178094,0,0,0,912,0,0,1,90990,0,0,0,62410,0,0 +17-43076642-A-G,17,43076642,rs759293156,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-28T>C,,c.4358-28T>C,intron_variant,Likely benign,2673889,,17,1609480,0.000010562417675274002,0,0,sas,0.0000036500000000000006,14.0,,0.0600,0.0500,1.35,,,0,74832,0,0,0,59974,0,0,0,29568,0,0,0,44812,0,0,0,62586,0,0,5,6070,0,0,9,1177340,0,0,0,912,0,0,2,91014,0,0,1,62372,0,0 +17-43076643-C-T,17,43076643,rs1469983215,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-29G>A,,c.4358-29G>A,intron_variant,,,,1,152078,0.000006575573061192283,0,0,,,8.18,,0.100,0.0600,1.35,,,0,41412,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10586,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4818,0,0,0,2090,0,0 +17-43076645-T-C,17,43076645,rs764503776,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-31A>G,,c.4358-31A>G,intron_variant,,,,1,1456710,6.864784342799871e-7,0,0,,,20.3,,0.450,0.390,1.65,,,0,33388,0,0,1,44708,0,0,0,26092,0,0,0,39596,0,0,0,51776,0,0,0,5752,0,0,0,1108998,0,0,,,,,0,86160,0,0,0,60240,0,0 +17-43076645-T-G,17,43076645,rs764503776,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-31A>C,,c.4358-31A>C,intron_variant,,,,2,1456708,0.0000013729587535731252,0,0,nfe,2.999999999999999e-7,18.1,,0.280,0.270,1.65,,,0,33388,0,0,0,44708,0,0,0,26092,0,0,0,39596,0,0,0,51776,0,0,0,5752,0,0,2,1108996,0,0,,,,,0,86160,0,0,0,60240,0,0 +17-43076648-C-T,17,43076648,rs2154075298,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-34G>A,,c.4358-34G>A,intron_variant,,,,1,1454116,6.877030443238366e-7,0,0,,,4.82,,0.0300,0.0300,-0.00400,,,0,33344,0,0,0,44694,0,0,0,26068,0,0,0,39584,0,0,0,51242,0,0,0,5742,0,0,1,1107172,0,0,,,,,0,86100,0,0,0,60170,0,0 +17-43076649-T-G,17,43076649,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-35A>C,,c.4358-35A>C,intron_variant,,,,1,1454426,6.875564655747353e-7,0,0,,,14.2,,0.00,0.0700,1.31,,,0,33350,0,0,0,44698,0,0,0,26070,0,0,0,39582,0,0,1,51298,0,0,0,5744,0,0,0,1107394,0,0,,,,,0,86104,0,0,0,60186,0,0 +17-43076649-T-A,17,43076649,rs2154075329,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-35A>T,,c.4358-35A>T,intron_variant,,,,2,1454426,0.0000013751129311494706,0,0,nfe,2.999999999999999e-7,14.1,,0.0500,0.100,1.31,,,0,33350,0,0,0,44698,0,0,0,26070,0,0,0,39582,0,0,0,51298,0,0,0,5744,0,0,2,1107394,0,0,,,,,0,86104,0,0,0,60186,0,0 +17-43076650-G-T,17,43076650,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-36C>A,,c.4358-36C>A,intron_variant,,,,1,1454640,6.874553154044987e-7,0,0,,,4.07,,0.0300,0.0100,0.448,,,0,33342,0,0,0,44690,0,0,0,26074,0,0,0,39572,0,0,0,51180,0,0,0,5750,0,0,1,1107746,0,0,,,,,0,86102,0,0,0,60184,0,0 +17-43076651-C-T,17,43076651,rs546408259,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-37G>A,,c.4358-37G>A,intron_variant,Likely benign,810908,,13,1605994,0.000008094675322572812,0,0,nfe,0.00000617,0.358,,0.0200,0.0200,0.0330,,,0,74868,0,0,0,59950,0,0,0,29532,0,0,0,44760,0,0,0,61804,0,0,0,6040,0,0,13,1174956,0,0,0,912,0,0,0,90896,0,0,0,62276,0,0 +17-43076656-T-C,17,43076656,rs767903443,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-42A>G,,c.4358-42A>G,intron_variant,,,,1,1452574,6.884330849925718e-7,0,0,,,12.0,,0.0200,-0.0200,1.24,,,0,33314,0,0,0,44686,0,0,0,26066,0,0,0,39574,0,0,0,50780,0,0,0,5744,0,0,1,1106220,0,0,,,,,0,86048,0,0,0,60142,0,0 +17-43076657-T-G,17,43076657,rs2052749969,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-43A>C,,c.4358-43A>C,intron_variant,,,,6,1604446,0.00000373960856270638,0,0,nfe,0.00000125,4.92,,0.0200,-0.0100,0.397,,,0,74750,0,0,0,59960,0,0,0,29538,0,0,0,44782,0,0,0,61296,0,0,0,6060,0,0,5,1174048,0,0,0,912,0,0,0,90866,0,0,1,62234,0,0 +17-43076659-T-C,17,43076659,rs869320778,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-45A>G,,c.4358-45A>G,intron_variant,Likely benign,225709,,8,1602886,0.000004990997488280514,0,0,nfe,0.00000184,13.1,,0.00,-0.0500,0.105,,,0,74728,0,0,1,59942,0,0,0,29536,0,0,0,44762,0,0,0,60906,0,0,1,6058,0,0,6,1173104,0,0,0,912,0,0,0,90788,0,0,0,62150,0,0 +17-43076659-T-G,17,43076659,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-45A>C,,c.4358-45A>C,intron_variant,,,,1,1450684,6.893299988143524e-7,0,0,,,12.8,,0.00,-0.0200,0.105,,,0,33268,0,0,0,44672,0,0,0,26064,0,0,0,39558,0,0,0,50294,0,0,0,5742,0,0,1,1105068,0,0,,,,,0,85956,0,0,0,60062,0,0 +17-43076660-G-A,17,43076660,rs2052750385,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-46C>T,,c.4358-46C>T,intron_variant,,,,1,1449376,6.899520897268894e-7,0,0,,,9.13,,0.0100,0.0300,1.75,,,0,33242,0,0,0,44654,0,0,0,26058,0,0,1,39544,0,0,0,50206,0,0,0,5738,0,0,0,1104026,0,0,,,,,0,85882,0,0,0,60026,0,0 +17-43076662-T-C,17,43076662,rs200393646,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-48A>G,,c.4358-48A>G,intron_variant,Likely benign,803412,,251,1601778,0.00015670086616247693,0,0,nfe,0.00018355,13.4,,0.00,0.00,0.579,,,1,74806,0,0,1,59974,0,0,2,29520,0,0,0,44744,0,0,0,60592,0,0,0,6026,0,0,241,1172270,0,0,0,912,0,0,0,90750,0,0,6,62184,0,0 +17-43076662-T-TA,17,43076662,rs2052750882,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-49dup,,c.4358-49dup,intron_variant,,,,1,1449466,6.899092493373421e-7,0,0,,,10.3,,0.00,0.0200,0.579,,,1,33226,0,0,0,44678,0,0,0,26050,0,0,0,39554,0,0,0,49986,0,0,0,5734,0,0,0,1104240,0,0,,,,,0,85924,0,0,0,60074,0,0 +17-43076663-A-G,17,43076663,rs1247459831,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-49T>C,,c.4358-49T>C,intron_variant,,,,2,1602250,0.0000012482446559525668,0,0,,,12.4,,0.00,-0.0300,0.394,,,1,74696,0,0,0,59934,0,0,0,29536,0,0,0,44746,0,0,0,60586,0,0,0,6046,0,0,1,1172874,0,0,0,912,0,0,0,90756,0,0,0,62164,0,0 +17-43076664-G-C,17,43076664,rs780108116,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-50C>G,,c.4358-50C>G,intron_variant,,,,2,1448190,0.000001381034256554734,0,0,nfe,2.999999999999999e-7,13.9,,0.0100,0.0300,2.76,,,0,33184,0,0,0,44646,0,0,0,26032,0,0,0,39520,0,0,0,49696,0,0,0,5736,0,0,2,1103452,0,0,,,,,0,85892,0,0,0,60032,0,0 +17-43076665-T-C,17,43076665,rs1186641548,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-51A>G,,c.4358-51A>G,intron_variant,,,,13,1600962,0.000008120117779185265,0,0,nfe,0.00000546,10.5,,0.00,-0.0200,-0.450,,,1,74660,0,0,0,59922,0,0,0,29512,0,0,0,44736,0,0,0,60278,0,0,0,6050,0,0,12,1172020,0,0,0,912,0,0,0,90710,0,0,0,62162,0,0 +17-43076668-T-C,17,43076668,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-54A>G,,c.4358-54A>G,intron_variant,,,,1,1444652,6.922082273101065e-7,0,0,,,12.2,,0.00,0.0100,-0.130,,,0,33158,0,0,0,44630,0,0,0,26012,0,0,0,39518,0,0,0,48628,0,0,0,5716,0,0,0,1101328,0,0,,,,,1,85740,0,0,0,59922,0,0 +17-43076670-A-G,17,43076670,rs1344382323,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-56T>C,,c.4358-56T>C,intron_variant,,,,5,1444548,0.000003461290313648283,0,0,nfe,0.0000013299999999999998,18.4,,0.00,0.0100,0.725,,,0,33164,0,0,0,44634,0,0,0,25996,0,0,0,39510,0,0,0,48596,0,0,0,5714,0,0,5,1101280,0,0,,,,,0,85734,0,0,0,59920,0,0 +17-43076675-G-C,17,43076675,rs2052751613,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-61C>G,,c.4358-61C>G,intron_variant,,,,15,1587738,0.000009447402531148085,0,0,sas,0.00010174999999999999,15.6,,0.00,0.0100,1.03,,,0,74350,0,0,0,59728,0,0,0,29394,0,0,0,44568,0,0,0,57994,0,0,0,5988,0,0,0,1163084,0,0,0,912,0,0,15,90040,0,0,0,61680,0,0 +17-43076676-G-C,17,43076676,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-62C>G,,c.4358-62C>G,intron_variant,,,,1,1431600,6.985191394244202e-7,0,0,,,16.2,,0.00,0.0100,1.44,,,0,32880,0,0,0,44440,0,0,0,25856,0,0,0,39370,0,0,0,47196,0,0,0,5668,0,0,1,1091700,0,0,,,,,0,85076,0,0,0,59414,0,0 +17-43076676-G-A,17,43076676,rs2052751784,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-62C>T,,c.4358-62C>T,intron_variant,,,,8,1431600,0.0000055881531153953615,0,0,afr,0.00001007,16.4,,0.00,0.0100,1.44,,,2,32880,0,0,0,44440,0,0,0,25856,0,0,0,39370,0,0,0,47196,0,0,0,5668,0,0,6,1091700,0,0,,,,,0,85076,0,0,0,59414,0,0 +17-43076680-G-T,17,43076680,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-66C>A,,c.4358-66C>A,intron_variant,,,,1,1427744,7.004056749669409e-7,0,0,,,9.35,,0.00,0.00,0.824,,,0,32770,0,0,0,44418,0,0,0,25836,0,0,0,39376,0,0,0,46428,0,0,0,5634,0,0,1,1089042,0,0,,,,,0,84890,0,0,0,59350,0,0 +17-43076683-T-C,17,43076683,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-69A>G,,c.4358-69A>G,intron_variant,,,,1,1424624,7.019395995013422e-7,0,0,,,4.59,,0.00,0.00,0.384,,,0,32684,0,0,0,44392,0,0,0,25834,0,0,0,39374,0,0,0,45800,0,0,0,5608,0,0,1,1086956,0,0,,,,,0,84746,0,0,0,59230,0,0 +17-43076683-T-A,17,43076683,rs1252155289,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-69A>T,,c.4358-69A>T,intron_variant,,,,45,1424622,0.00003158732632235077,0,0,nfe,0.00002686,4.02,,0.00,0.00,0.384,,,0,32684,0,0,0,44392,0,0,0,25834,0,0,0,39374,0,0,0,45800,0,0,0,5608,0,0,39,1086954,0,0,,,,,0,84746,0,0,6,59230,0,0 +17-43076684-A-C,17,43076684,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-70T>G,,c.4358-70T>G,intron_variant,,,,1,615568,0.0000016245158942635095,0,0,,,5.45,,0.00,-0.0400,0.0770,,,0,17484,0,0,0,43372,0,0,0,20834,0,0,0,35854,0,0,0,45476,0,0,0,4010,0,0,1,347034,0,0,,,,,0,68760,0,0,0,32744,0,0 +17-43076684-A-G,17,43076684,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-70T>C,,c.4358-70T>C,intron_variant,,,,1,615568,0.0000016245158942635095,0,0,,,5.78,,0.00,-0.0200,0.0770,,,0,17484,0,0,0,43372,0,0,0,20834,0,0,0,35854,0,0,0,45476,0,0,0,4010,0,0,1,347034,0,0,,,,,0,68760,0,0,0,32744,0,0 +17-43076686-T-C,17,43076686,rs2154076105,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-72A>G,,c.4358-72A>G,intron_variant,,,,2,1419512,0.0000014089349015718078,0,0,,,0.0950,,0.00,-0.0200,-4.24,,,0,32582,0,0,0,44312,0,0,0,25800,0,0,0,39344,0,0,0,45346,0,0,0,5574,0,0,1,1082952,0,0,,,,,0,84546,0,0,1,59056,0,0 +17-43076688-A-AT,17,43076688,rs1229841780,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-75dup,,c.4358-75dup,intron_variant,,,,4,1412926,0.0000028310045961359617,0,0,afr,0.0000102,9.88,,0.00,0.0200,0.272,,,2,32474,0,0,0,44320,0,0,0,25744,0,0,0,39286,0,0,0,44796,0,0,0,5526,0,0,0,1077630,0,0,,,,,2,84322,0,0,0,58828,0,0 +17-43076689-T-C,17,43076689,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-75A>G,,c.4358-75A>G,intron_variant,,,,1,797904,0.0000012532836030399648,0,0,,,5.82,,0.00,0.0100,-0.651,,,0,14952,0,0,0,928,0,0,0,4916,0,0,0,3472,0,0,0,270,0,0,0,1560,0,0,1,730016,0,0,,,,,0,15678,0,0,0,26112,0,0 +17-43079259-C-T,17,43079259,rs2154103718,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2645G>A,,c.4358-2645G>A,intron_variant,,,,2,597646,0.000003346462621685747,0,0,nfe,9.699999999999998e-7,6.21,,0.00,0.00,0.439,,,0,17020,0,0,0,42416,0,0,0,20686,0,0,0,35314,0,0,0,36742,0,0,0,3434,0,0,2,341694,0,0,,,,,0,68038,0,0,0,32302,0,0 +17-43079259-C-A,17,43079259,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2645G>T,,c.4358-2645G>T,intron_variant,,,,1,597646,0.0000016732313108428736,0,0,,,5.57,,0.00,0.0100,0.439,,,0,17020,0,0,0,42416,0,0,0,20686,0,0,0,35314,0,0,0,36742,0,0,0,3434,0,0,1,341694,0,0,,,,,0,68038,0,0,0,32302,0,0 +17-43079260-C-G,17,43079260,rs1446132166,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2646G>C,,c.4358-2646G>C,intron_variant,,,,15,1157052,0.000012963980875535413,0,0,nfe,0.00001151,0.972,,0.00,0.0100,-1.99,,,0,65942,0,0,0,58216,0,0,0,26774,0,0,0,42272,0,0,0,47548,0,0,0,4592,0,0,15,782428,0,0,0,912,0,0,0,80720,0,0,0,47648,0,0 +17-43079262-C-G,17,43079262,rs2154103785,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2648G>C,,c.4358-2648G>C,intron_variant,,,,1,1023842,9.767132037951169e-7,0,0,,,0.518,,0.00,0.0100,-1.04,,,0,24904,0,0,0,43222,0,0,0,23420,0,0,0,37284,0,0,0,37056,0,0,0,4326,0,0,1,730994,0,0,,,,,0,76404,0,0,0,46232,0,0 +17-43079262-C-T,17,43079262,rs2154103785,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2648G>A,,c.4358-2648G>A,intron_variant,,,,2,1023842,0.0000019534264075902337,0,0,nfe,4.6000000000000004e-7,0.637,,0.00,0.0200,-1.04,,,0,24904,0,0,0,43222,0,0,0,23420,0,0,0,37284,0,0,0,37056,0,0,0,4326,0,0,2,730994,0,0,,,,,0,76404,0,0,0,46232,0,0 +17-43079263-C-T,17,43079263,rs999181037,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2649G>A,,c.4358-2649G>A,intron_variant,,,,5,1215886,0.000004112227626603152,0,0,nfe,9.6e-7,2.46,,0.00,0.0100,-0.332,,,0,67062,0,0,1,58622,0,0,0,27150,0,0,0,42702,0,0,0,47782,0,0,0,4764,0,0,3,835206,0,0,0,912,0,0,0,82032,0,0,1,49654,0,0 +17-43079268-G-T,17,43079268,rs2154103914,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2654C>A,,c.4358-2654C>A,intron_variant,,,,3,1094770,0.0000027403016158645194,0,0,nfe,0.0000010100000000000003,0.816,,0.00,0.0300,-1.08,,,0,26242,0,0,0,43656,0,0,0,23876,0,0,0,37820,0,0,0,37388,0,0,0,4518,0,0,3,794444,0,0,,,,,0,78252,0,0,0,48574,0,0 +17-43079269-G-A,17,43079269,rs2154103993,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2655C>T,,c.4358-2655C>T,intron_variant,,,,1,1131722,8.836092255872025e-7,0,0,,,2.52,,0.00,0.0300,0.548,,,0,26932,0,0,0,43680,0,0,0,24120,0,0,0,37944,0,0,0,37426,0,0,0,4604,0,0,1,828146,0,0,,,,,0,79036,0,0,0,49834,0,0 +17-43079270-C-T,17,43079270,rs2154104027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2656G>A,,c.4358-2656G>A,intron_variant,,,,5,1151468,0.000004342283068222477,0,0,sas,0.000016760000000000002,2.79,,0.00,0.0100,-0.318,,,0,27342,0,0,0,43732,0,0,0,24262,0,0,0,38034,0,0,0,37422,0,0,0,4640,0,0,1,846176,0,0,,,,,4,79380,0,0,0,50480,0,0 +17-43079271-C-T,17,43079271,rs2154104072,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2657G>A,,c.4358-2657G>A,intron_variant,,,,3,1166358,0.00000257210907800178,0,0,nfe,9.300000000000002e-7,3.29,,0.00,0.0200,-0.212,,,0,27586,0,0,0,43842,0,0,0,24352,0,0,0,38154,0,0,0,37508,0,0,0,4686,0,0,3,859426,0,0,,,,,0,79826,0,0,0,50978,0,0 +17-43079272-A-G,17,43079272,rs1376711179,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2658T>C,,c.4358-2658T>C,intron_variant,,,,1,152238,0.0000065686622262510016,0,0,,,4.00,,0.0100,0.0100,0.433,,,1,41454,0,0,0,15284,0,0,0,3472,0,0,0,5208,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43079273-G-A,17,43079273,rs2154104144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2659C>T,,c.4358-2659C>T,intron_variant,,,,1,1184354,8.443421477024606e-7,0,0,,,2.26,,0.00,0.0100,0.530,,,0,27998,0,0,0,43978,0,0,0,24458,0,0,0,38234,0,0,0,37572,0,0,0,4724,0,0,1,875672,0,0,,,,,0,80244,0,0,0,51474,0,0 +17-43079276-C-A,17,43079276,rs1202016798,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2662G>T,,c.4358-2662G>T,intron_variant,,,,37,1360024,0.00002720540225760722,0,0,nfe,0.00002731,2.08,,0.00,0.00,-0.294,,,1,69894,0,0,0,59356,0,0,0,28110,0,0,0,43608,0,0,0,48250,0,0,0,5116,0,0,36,964796,0,0,0,912,0,0,0,85678,0,0,0,54304,0,0 +17-43079277-C-G,17,43079277,rs1567781381,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2663G>C,,c.4358-2663G>C,intron_variant,,,,2,1367488,0.0000014625356858707352,0,0,,,2.24,,0.00,0.00,0.553,,,0,70010,0,0,0,59394,0,0,0,28144,0,0,0,43642,0,0,0,48244,0,0,0,5120,0,0,2,971570,0,0,0,912,0,0,0,85918,0,0,0,54534,0,0 +17-43079278-AC-A,17,43079278,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2665del,,c.4358-2665del,intron_variant,,,,2,1223736,0.0000016343394326880962,0,0,nfe,3.7000000000000006e-7,2.48,,0.00,0.0200,-1.16,,,0,28736,0,0,0,44154,0,0,0,24756,0,0,0,38530,0,0,0,37672,0,0,0,4812,0,0,2,911074,0,0,,,,,0,81252,0,0,0,52750,0,0 +17-43079279-C-T,17,43079279,rs2052888036,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2665G>A,,c.4358-2665G>A,intron_variant,,,,1,152170,0.0000065715975553657095,0,0,,,5.32,,0.00,0.0100,-0.216,,,0,41430,0,0,0,15274,0,0,0,3470,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43079280-C-T,17,43079280,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2666G>A,,c.4358-2666G>A,intron_variant,,,,1,631214,0.0000015842487650780875,0,0,,,2.71,,0.00,0.0100,-3.92,,,0,11556,0,0,0,676,0,0,0,4014,0,0,0,2684,0,0,0,204,0,0,0,1234,0,0,1,577980,0,0,,,,,0,12326,0,0,0,20540,0,0 +17-43079281-A-G,17,43079281,rs147704942,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2667T>C,,c.4358-2667T>C,intron_variant,,,,11,1405318,0.000007827409881606867,0,0,nfe,0.00000503,7.01,,0.00,0.00,-1.91,,,0,70858,0,0,0,59538,0,0,0,28418,0,0,1,43886,0,0,0,48398,0,0,0,5164,0,0,10,1005430,0,0,0,912,0,0,0,86736,0,0,0,55978,0,0 +17-43079283-C-G,17,43079283,rs1342573911,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2669G>C,,c.4358-2669G>C,intron_variant,,,,17,1424574,0.00001193339201754349,0,0,nfe,0.00000926,4.48,,0.00,0.0100,0.553,,,0,71112,0,0,0,59582,0,0,0,28500,0,0,0,43992,0,0,0,48418,0,0,0,5240,0,0,16,1023082,0,0,0,912,0,0,0,87136,0,0,1,56600,0,0 +17-43079287-C-A,17,43079287,rs754014482,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2673G>T,,c.4358-2673G>T,intron_variant,,,,13,1299674,0.0000100025083213175,0,0,nfe,0.000007400000000000001,4.84,,0.0100,0.00,0.298,,,0,30276,0,0,0,44358,0,0,0,25218,0,0,0,38930,0,0,0,37818,0,0,0,4978,0,0,13,979732,0,0,,,,,0,82946,0,0,0,55418,0,0 +17-43079288-A-G,17,43079288,rs1476095148,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2674T>C,,c.4358-2674T>C,intron_variant,,,,37,1308538,0.000028275831500499032,0,0,nfe,0.00002763,7.80,,0.0200,0.0100,0.238,,,0,30442,0,0,0,44388,0,0,0,25280,0,0,0,38992,0,0,0,37864,0,0,0,4996,0,0,37,987742,0,0,,,,,0,83118,0,0,0,55716,0,0 +17-43079289-G-C,17,43079289,rs1187077196,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2675C>G,,c.4358-2675C>G,intron_variant,,,,4,1327646,0.0000030128513172939174,0,0,nfe,9.300000000000002e-7,6.31,,0.0300,0.00,0.296,,,0,30804,0,0,0,44406,0,0,0,25388,0,0,0,39090,0,0,0,37870,0,0,0,5040,0,0,4,1005198,0,0,,,,,0,83518,0,0,0,56332,0,0 +17-43079289-G-A,17,43079289,rs1187077196,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2675C>T,,c.4358-2675C>T,intron_variant,,,,1,1327646,7.532128293234793e-7,0,0,,,6.69,,0.00,0.0200,0.296,,,0,30804,0,0,0,44406,0,0,1,25388,0,0,0,39090,0,0,0,37870,0,0,0,5040,0,0,0,1005198,0,0,,,,,0,83518,0,0,0,56332,0,0 +17-43079289-G-T,17,43079289,rs1187077196,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2675C>A,,c.4358-2675C>A,intron_variant,,,,1,152210,0.000006569870573549701,0,0,,,6.18,,0.00,0.0200,0.296,,,1,41458,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10626,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43079290-T-C,17,43079290,rs755174729,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2676A>G,,c.4358-2676A>G,intron_variant,,,,1,1332272,7.505974755905701e-7,0,0,,,7.96,,0.00,0.00,0.239,,,0,30898,0,0,0,44420,0,0,0,25396,0,0,0,39110,0,0,0,37886,0,0,0,5036,0,0,0,1009482,0,0,,,,,1,83608,0,0,0,56436,0,0 +17-43079297-C-T,17,43079297,rs779149878,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2683G>A,,c.4358-2683G>A,intron_variant,,,,10,1531296,0.000006530416065868389,0,0,afr,0.00005377999999999998,6.45,,0.00,0.0400,0.298,,,8,73338,0,0,0,59788,0,0,0,29176,0,0,0,44522,0,0,0,48580,0,0,0,5460,0,0,0,1119990,0,0,0,912,0,0,1,89500,0,0,1,60030,0,0 +17-43079298-C-T,17,43079298,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2684G>A,,c.4358-2684G>A,intron_variant,,,,2,1385678,0.0000014433367636637084,0,0,nfe,3.1e-7,7.44,,0.0300,0.0500,0.298,,,0,32046,0,0,0,44550,0,0,0,25748,0,0,0,39364,0,0,0,37996,0,0,0,5182,0,0,2,1057802,0,0,,,,,0,84812,0,0,0,58178,0,0 +17-43079298-C-G,17,43079298,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2684G>C,,c.4358-2684G>C,intron_variant,,,,7,1385680,0.000005051671381559956,0,0,nfe,0.00000275,7.02,,0.00,0.0500,0.298,,,0,32046,0,0,0,44550,0,0,0,25748,0,0,0,39364,0,0,0,37996,0,0,0,5182,0,0,7,1057804,0,0,,,,,0,84812,0,0,0,58178,0,0 +17-43079299-A-G,17,43079299,rs747894403,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2685T>C,,c.4358-2685T>C,intron_variant,,,,6,1390820,0.000004314001811880761,0,0,amr,0.00004370999999999998,9.14,,0.00,0.0400,0.238,,,0,32158,0,0,5,44566,0,0,0,25770,0,0,0,39380,0,0,0,38008,0,0,0,5210,0,0,1,1062438,0,0,,,,,0,84930,0,0,0,58360,0,0 +17-43079304-GACGA-G,17,43079304,rs1377502495,GACGA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2694_4358-2691del,,c.4358-2694_4358-2691del,intron_variant,,,,16,1552190,0.000010308016415516141,0,0,nfe,0.00000637,7.21,,0.00,0.0100,0.296,,,0,73772,0,0,2,59880,0,0,0,29302,0,0,0,44640,0,0,0,48666,0,0,0,5558,0,0,13,1138664,0,0,0,912,0,0,0,90000,0,0,1,60796,0,0 +17-43079306-C-T,17,43079306,rs543238533,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2692G>A,,c.4358-2692G>A,intron_variant,,,,69,1558942,0.000044260787123574835,0,0,nfe,0.0000448,7.82,,0.0100,0.00,0.298,,,0,74042,0,0,0,59894,0,0,0,29356,0,0,2,44668,0,0,0,48638,0,0,0,5538,0,0,64,1144752,0,0,0,912,0,0,1,90100,0,0,2,61042,0,0 +17-43079307-G-A,17,43079307,rs934287924,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2693C>T,,c.4358-2693C>T,intron_variant,,,,4,1562354,0.0000025602392287535346,0,0,nfe,6.999999999999999e-7,8.34,,0.00,0.0400,0.296,,,1,74026,0,0,0,59890,0,0,0,29364,0,0,0,44688,0,0,0,48650,0,0,0,5572,0,0,3,1147878,0,0,0,912,0,0,0,90240,0,0,0,61134,0,0 +17-43079314-A-G,17,43079314,rs2154105191,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2700T>C,,c.4358-2700T>C,intron_variant,,,,9,1425306,0.0000063144335321678296,0,0,nfe,0.0000031500000000000003,12.2,,0.0400,0.0100,0.238,,,0,32958,0,0,0,44648,0,0,0,25984,0,0,0,39566,0,0,0,38110,0,0,0,5316,0,0,8,1093416,0,0,,,,,1,85742,0,0,0,59566,0,0 +17-43079314-A-C,17,43079314,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2700T>G,,c.4358-2700T>G,intron_variant,,,,1,1425306,7.016037257964254e-7,0,0,,,11.9,,0.0600,0.0100,0.238,,,0,32958,0,0,0,44648,0,0,0,25984,0,0,1,39566,0,0,0,38110,0,0,0,5316,0,0,0,1093416,0,0,,,,,0,85742,0,0,0,59566,0,0 +17-43079318-G-A,17,43079318,rs562625234,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2704C>T,,c.4358-2704C>T,intron_variant,Benign,136548,,65,1582680,0.00004106957818384007,1,0,amr,0.0007980100000000003,11.1,,0.00,0.0700,0.296,,,0,74646,0,0,60,59960,1,0,0,29490,0,0,0,44792,0,0,0,48728,0,0,0,5600,0,0,1,1166052,0,0,0,912,0,0,0,90668,0,0,4,61832,0,0 +17-43079321-A-C,17,43079321,rs1432975091,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2707T>G,,c.4358-2707T>G,intron_variant,,,,2,1585836,0.0000012611644583677,0,0,,,12.7,,0.0600,0.0200,0.238,,,0,74592,0,0,0,59956,0,0,0,29504,0,0,0,44816,0,0,0,48766,0,0,0,5630,0,0,0,1168948,0,0,0,912,0,0,2,90764,0,0,0,61948,0,0 +17-43079329-G-T,17,43079329,rs746972533,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2715C>A,,c.4358-2715C>A,intron_variant,Likely benign,371860,,40,1590192,0.000025154195216678238,0,0,nfe,0.00002328,10.8,,0.00,0.0800,0.296,,,0,74694,0,0,0,59966,0,0,0,29542,0,0,0,44842,0,0,0,48796,0,0,0,5628,0,0,37,1172870,0,0,1,912,0,0,0,90854,0,0,2,62088,0,0 +17-43079329-G-A,17,43079329,rs746972533,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2715C>T,,c.4358-2715C>T,intron_variant,,,,1,1438008,6.95406423330051e-7,0,0,,,11.3,,0.00,0.0700,0.296,,,0,33250,0,0,0,44692,0,0,0,26072,0,0,0,39640,0,0,0,38194,0,0,0,5312,0,0,0,1104830,0,0,,,,,1,86022,0,0,0,59996,0,0 +17-43079330-G-C,17,43079330,rs193146830,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2716C>G,,c.4358-2716C>G,intron_variant,Likely benign,491076,,11,1590332,0.000006916794732169132,0,0,eas,0.00013712999999999998,12.5,,0.210,0.0100,0.296,,,0,74798,0,0,0,59984,0,0,0,29542,0,0,11,44818,0,0,0,48802,0,0,0,5588,0,0,0,1172934,0,0,0,910,0,0,0,90854,0,0,0,62102,0,0 +17-43079331-C-A,17,43079331,rs776303574,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2717G>T,,c.4358-2717G>T,intron_variant,,,,5,1439426,0.0000034736068405044788,0,0,nfe,0.0000013199999999999999,16.3,,0.370,0.0200,0.298,,,0,33294,0,0,0,44694,0,0,0,26074,0,0,0,39650,0,0,0,38192,0,0,0,5310,0,0,5,1106126,0,0,,,,,0,86058,0,0,0,60028,0,0 +17-43079333-C-T,17,43079333,rs2052891476,C,T,gnomAD Genomes,NA,PASS,ENST00000471181.7,c.4423+1G>A,,c.4423+1G>A,splice_donor_variant,,,,1,152114,0.0000065740168557792186,0,0,,,23.3,,0.430,0.0100,0.298,,,0,41420,0,0,0,15258,0,0,0,3472,0,0,0,5190,0,0,0,10600,0,0,0,314,0,0,1,68034,0,0,0,908,0,0,0,4828,0,0,0,2090,0,0 +17-43079334-C-T,17,43079334,rs183331660,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Val1475Ile,p.Val1475Ile,c.4423G>A,missense_variant,Likely benign,371872,,80,1592994,0.00005021990038882758,2,0,amr,0.00106705,21.8,,0.430,0.0100,0.298,,,1,74872,0,0,78,59988,2,0,0,29562,0,0,0,44840,0,0,0,48784,0,0,0,5606,0,0,1,1175318,0,0,0,912,0,0,0,90918,0,0,0,62194,0,0 +17-43079336-G-A,17,43079336,rs1209769958,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1474Leu,p.Ser1474Leu,c.4421C>T,missense_variant,,,,1,1441220,6.938565937192101e-7,0,0,,,24.4,,0.410,0.0200,-0.686,,,0,33346,0,0,1,44704,0,0,0,26094,0,0,0,39648,0,0,0,38218,0,0,0,5312,0,0,0,1107694,0,0,,,,,0,86112,0,0,0,60092,0,0 +17-43079339-A-G,17,43079339,rs374519494,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ile1473Thr,p.Ile1473Thr,c.4418T>C,missense_variant,Conflicting interpretations of pathogenicity,523689,,88,1594320,0.00005519594560690451,0,0,afr,0.00019886999999999997,12.1,,0.00,0.0400,0.238,,,22,74820,0,0,1,59982,0,0,1,29574,0,0,0,44856,0,0,0,48850,0,0,1,5628,0,0,58,1176530,0,0,0,912,0,0,0,90942,0,0,5,62226,0,0 +17-43079340-T-C,17,43079340,rs775348455,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ile1473Val,p.Ile1473Val,c.4417A>G,missense_variant,Uncertain significance,371813,,22,1442362,0.000015252759016113847,0,0,amr,0.00005806999999999997,11.6,,0.0900,0.0100,-0.843,,,0,33370,0,0,6,44702,0,0,0,26106,0,0,0,39658,0,0,0,38244,0,0,1,5312,0,0,13,1108698,0,0,,,,,2,86126,0,0,0,60146,0,0 +17-43079343-G-A,17,43079343,rs2154105995,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.His1472Tyr,p.His1472Tyr,c.4414C>T,missense_variant,,,,1,1443222,6.928940939093223e-7,0,0,,,19.4,,0.130,0.00,0.303,,,0,33384,0,0,0,44704,0,0,0,26110,0,0,0,39668,0,0,0,38258,0,0,0,5308,0,0,0,1109486,0,0,,,,,0,86142,0,0,1,60162,0,0 +17-43079347-T-C,17,43079347,rs2052892864,T,C,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.Arg1470Arg,p.Arg1470Arg,c.4410A>G,synonymous_variant,,,,1,152178,0.000006571252086372537,0,0,,,13.1,,0.190,0.00,0.244,,,0,41442,0,0,1,15276,0,0,0,3470,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43079349-T-C,17,43079349,rs1057517571,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Arg1470Gly,p.Arg1470Gly,c.4408A>G,missense_variant,Likely benign,371865,,3,1595652,0.0000018801091967421469,0,0,amr,0.00001327,19.3,,0.490,0.370,0.244,,,0,74844,0,0,3,59990,0,0,0,29574,0,0,0,44864,0,0,0,48874,0,0,0,5576,0,0,0,1177786,0,0,0,912,0,0,0,90986,0,0,0,62246,0,0 +17-43079351-G-C,17,43079351,,G,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Pro1469Arg,p.Pro1469Arg,c.4406C>G,missense_variant,,,,3,1444454,0.0000020769093373689987,0,0,,,23.2,,0.0200,0.460,0.303,,,0,33412,0,0,0,44710,0,0,0,26118,0,0,0,39670,0,0,3,38276,0,0,0,5268,0,0,0,1110624,0,0,,,,,0,86182,0,0,0,60194,0,0 +17-43079352-G-A,17,43079352,rs1555583238,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Pro1469Ser,p.Pro1469Ser,c.4405C>T,missense_variant,Likely benign,491078,,3,1444452,0.0000020769122130745776,0,0,nfe,7.200000000000001e-7,23.5,,0.200,0.0200,0.303,,,0,33410,0,0,0,44714,0,0,0,26118,0,0,0,39672,0,0,0,38270,0,0,0,5252,0,0,3,1110636,0,0,,,,,0,86180,0,0,0,60200,0,0 +17-43079353-C-T,17,43079353,rs1006230499,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Arg,p.Arg1468Arg,c.4404G>A,synonymous_variant,Likely benign,1176661,,5,1444492,0.0000034614245007933585,0,0,nfe,0.0000013199999999999999,12.2,,0.110,0.0900,0.305,,,0,33416,0,0,0,44714,0,0,0,26118,0,0,0,39670,0,0,0,38266,0,0,0,5256,0,0,5,1110678,0,0,,,,,0,86180,0,0,0,60194,0,0 +17-43079354-C-T,17,43079354,rs762068981,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Lys,p.Arg1468Lys,c.4403G>A,missense_variant,,,,2,1444724,0.0000013843474601377149,0,0,,,11.8,,0.120,0.00,0.305,,,0,33426,0,0,0,44714,0,0,0,26120,0,0,0,39672,0,0,0,38288,0,0,0,5272,0,0,1,1110842,0,0,,,,,0,86184,0,0,1,60206,0,0 +17-43079354-C-G,17,43079354,,C,G,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1468Thr,p.Arg1468Thr,c.4403G>C,missense_variant,Uncertain significance,2574679,,1,1444724,6.921737300688574e-7,0,0,,,14.0,,0.190,0.130,0.305,,,0,33426,0,0,0,44714,0,0,0,26120,0,0,0,39672,0,0,0,38288,0,0,0,5272,0,0,0,1110842,0,0,,,,,1,86184,0,0,0,60206,0,0 +17-43079358-T-C,17,43079358,,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Lys1467Glu,p.Lys1467Glu,c.4399A>G,missense_variant,,,,1,1445012,6.920357754814493e-7,0,0,,,12.8,,0.310,0.260,0.244,,,0,33430,0,0,0,44708,0,0,0,26114,0,0,0,39680,0,0,0,38316,0,0,0,5270,0,0,1,1111100,0,0,,,,,0,86184,0,0,0,60210,0,0 +17-43079360-G-T,17,43079360,,G,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1466Tyr,p.Ser1466Tyr,c.4397C>A,missense_variant,,,,5,1445002,0.0000034602028232486877,0,0,nfe,0.0000013199999999999999,19.5,,0.0600,0.00,0.303,,,0,33432,0,0,0,44706,0,0,0,26112,0,0,0,39676,0,0,0,38326,0,0,0,5252,0,0,5,1111118,0,0,,,,,0,86178,0,0,0,60202,0,0 +17-43079361-A-T,17,43079361,,A,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1466Thr,p.Ser1466Thr,c.4396T>A,missense_variant,,,,5,832344,0.000006007131666714724,0,0,nfe,0.0000019200000000000003,12.6,,0.0100,0.0300,0.244,,,0,15756,0,0,0,982,0,0,0,5146,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,5,761222,0,0,,,,,0,16444,0,0,0,27274,0,0 +17-43079369-G-C,17,43079369,rs1014956762,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1463Cys,p.Ser1463Cys,c.4388C>G,missense_variant,Uncertain significance,2635525,,2,764944,0.0000026145704783618145,0,0,,,18.7,,0.0200,0.0100,0.303,,,2,59082,0,0,0,58988,0,0,0,24442,0,0,0,41250,0,0,0,48730,0,0,0,3952,0,0,0,417992,0,0,0,912,0,0,0,74574,0,0,0,35022,0,0 +17-43079370-A-T,17,43079370,rs2154106663,A,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ser1463Thr,p.Ser1463Thr,c.4387T>A,missense_variant,,,,2,1445072,0.000001384014083727316,0,0,nfe,2.999999999999999e-7,9.70,,0.00,0.0200,0.244,,,0,33430,0,0,0,44708,0,0,0,26118,0,0,0,39676,0,0,0,38408,0,0,0,5252,0,0,2,1111076,0,0,,,,,0,86192,0,0,0,60212,0,0 +17-43079372-T-G,17,43079372,rs2052894113,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Asn1462Thr,p.Asn1462Thr,c.4385A>C,missense_variant,,,,2,984098,0.000002032317919556792,0,0,,,12.7,,0.0900,0.00,0.244,,,0,57084,0,0,0,16226,0,0,0,8618,0,0,0,8794,0,0,0,10862,0,0,0,1936,0,0,2,829048,0,0,0,912,0,0,0,21264,0,0,0,29354,0,0 +17-43079373-T-A,17,43079373,rs879066235,T,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1462Tyr,p.Asn1462Tyr,c.4384A>T,missense_variant,,,,1,612888,0.0000016316194802312983,0,0,,,12.7,,0.110,0.00,0.244,,,0,17674,0,0,0,43732,0,0,0,20974,0,0,0,36056,0,0,0,38162,0,0,0,3634,0,0,0,349978,0,0,,,,,1,69744,0,0,0,32934,0,0 +17-43079374-G-T,17,43079374,rs2052894403,G,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1461Lys,p.Asn1461Lys,c.4383C>A,missense_variant,,,,2,1444934,0.0000013841462655041684,0,0,,,17.9,,0.210,0.00,0.303,,,1,33424,0,0,0,44704,0,0,0,26122,0,0,0,39678,0,0,0,38438,0,0,0,5254,0,0,1,1110922,0,0,,,,,0,86186,0,0,0,60206,0,0 +17-43079375-T-C,17,43079375,rs1395515080,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Asn1461Ser,p.Asn1461Ser,c.4382A>G,missense_variant,,,,1,612922,0.0000016315289710599391,0,0,,,15.3,,0.0400,0.0300,0.244,,,0,17674,0,0,0,43730,0,0,0,20974,0,0,0,36054,0,0,0,38190,0,0,0,3644,0,0,0,349968,0,0,,,,,0,69750,0,0,1,32938,0,0 +17-43079377-C-A,17,43079377,rs1453544316,C,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Ser,p.Arg1460Ser,c.4380G>T,missense_variant,,,,2,1444970,0.000001384111780867423,0,0,amr,0.000007420000000000001,22.6,,0.320,0.00,0.305,,,0,33434,0,0,2,44708,0,0,0,26122,0,0,0,39680,0,0,0,38460,0,0,0,5256,0,0,0,1110922,0,0,,,,,0,86182,0,0,0,60206,0,0 +17-43079377-C-T,17,43079377,rs1453544316,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Arg,p.Arg1460Arg,c.4380G>A,synonymous_variant,,,,2,1444970,0.000001384111780867423,0,0,,,8.30,,0.180,0.00,0.305,,,1,33434,0,0,0,44708,0,0,0,26122,0,0,0,39680,0,0,0,38460,0,0,0,5256,0,0,1,1110922,0,0,,,,,0,86182,0,0,0,60206,0,0 +17-43079378-C-T,17,43079378,,C,T,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Arg1460Lys,p.Arg1460Lys,c.4379G>A,missense_variant,,,,1,1445016,6.920338598326939e-7,0,0,,,15.0,,0.180,0.00,0.305,,,0,33428,0,0,0,44706,0,0,0,26122,0,0,0,39670,0,0,0,38484,0,0,0,5272,0,0,1,1110936,0,0,,,,,0,86194,0,0,0,60204,0,0 +17-43079381-T-C,17,43079381,rs2052895055,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Gln1459Arg,p.Gln1459Arg,c.4376A>G,missense_variant,,,,3,613004,0.000004893932176625275,0,0,eas,0.00000919,9.54,,0.280,0.390,0.244,,,0,17674,0,0,0,43734,0,0,0,20976,0,0,2,36056,0,0,0,38240,0,0,0,3678,0,0,0,349962,0,0,,,,,1,69752,0,0,0,32932,0,0 +17-43079382-G-A,17,43079382,rs2052895205,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Gln1459Ter,p.Gln1459Ter,c.4375C>T,stop_gained,,,,3,1596922,0.0000018786139836510487,0,0,nfe,2.8000000000000007e-7,36.0,,0.140,0.0100,0.303,,,0,74770,0,0,0,59972,0,0,0,29588,0,0,0,44866,0,0,0,49108,0,0,0,5624,0,0,2,1178786,0,0,0,912,0,0,1,91016,0,0,0,62280,0,0 +17-43079385-C-T,17,43079385,rs1173323937,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Gly1458Ser,p.Gly1458Ser,c.4372G>A,missense_variant,,,,10,1596664,0.000006263058476924387,0,0,nfe,0.0000035900000000000004,14.2,,0.240,0.00,0.305,,,1,74776,0,0,0,59956,0,0,0,29582,0,0,0,44864,0,0,0,49096,0,0,0,5640,0,0,9,1178546,0,0,0,912,0,0,0,91018,0,0,0,62274,0,0 +17-43079386-A-G,17,43079386,rs1567781500,A,G,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.His1457His,p.His1457His,c.4371T>C,synonymous_variant,,,,6,1444758,0.000004152944645400822,0,0,nfe,0.00000194,6.70,,0.00,0.160,0.244,,,0,33426,0,0,0,44702,0,0,0,26118,0,0,0,39674,0,0,0,38534,0,0,0,5344,0,0,6,1110590,0,0,,,,,0,86180,0,0,0,60190,0,0 +17-43079387-T-C,17,43079387,rs750825948,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.His1457Arg,p.His1457Arg,c.4370A>G,missense_variant,Uncertain significance,559971,,4,765166,0.000005227623809735404,0,0,nfe,0.0000019100000000000003,2.37,,0.00,0.250,-1.86,,,1,59100,0,0,0,58972,0,0,0,24442,0,0,0,41248,0,0,0,48888,0,0,0,4044,0,0,3,417974,0,0,0,912,0,0,0,74560,0,0,0,35026,0,0 +17-43079388-G-A,17,43079388,rs1162293753,G,A,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.His1457Tyr,p.His1457Tyr,c.4369C>T,missense_variant,,,,1,152172,0.000006571511184712037,0,0,,,1.33,,0.0900,0.00,-0.647,,,0,41434,0,0,0,15280,0,0,0,3468,0,0,1,5194,0,0,0,10616,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 +17-43079389-T-C,17,43079389,,T,C,gnomAD Exomes,PASS,NA,ENST00000471181.7,p.Ile1456Met,p.Ile1456Met,c.4368A>G,missense_variant,,,,1,613092,0.0000016310765757830798,0,0,,,15.4,,0.0100,0.0600,0.244,,,0,17672,0,0,0,43724,0,0,0,20972,0,0,0,36054,0,0,0,38280,0,0,0,3736,0,0,1,349964,0,0,,,,,0,69750,0,0,0,32940,0,0 +17-43079395-C-T,17,43079395,rs761271538,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1454Ser,p.Ser1454Ser,c.4362G>A,synonymous_variant,,,,7,1595768,0.000004386602563781201,0,0,sas,0.0000036500000000000006,5.31,,0.240,0.00,-0.726,,,0,74736,0,0,0,59930,0,0,0,29566,0,0,0,44848,0,0,0,49154,0,0,0,5756,0,0,4,1177638,0,0,0,912,0,0,2,90984,0,0,1,62244,0,0 +17-43079396-G-A,17,43079396,rs2052896292,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,p.Ser1454Leu,p.Ser1454Leu,c.4361C>T,missense_variant,,,,6,1595346,0.0000037609396331579483,0,0,nfe,2.8000000000000007e-7,14.8,,0.190,0.00,0.303,,,1,74798,0,0,0,59946,0,0,0,29574,0,0,1,44856,0,0,0,49200,0,0,0,5778,0,0,2,1177082,0,0,0,912,0,0,1,90974,0,0,1,62226,0,0 +17-43079396-G-C,17,43079396,rs2052896292,G,C,gnomAD Genomes,NA,PASS,ENST00000471181.7,p.Ser1454Trp,p.Ser1454Trp,c.4361C>G,missense_variant,,,,1,152084,0.000006575313642460746,0,0,,,17.8,,0.140,0.00,0.303,,,0,41414,0,0,0,15242,0,0,0,3470,0,0,0,5194,0,0,0,10596,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4830,0,0,0,2086,0,0 +17-43079400-C-T,17,43079400,rs374435098,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,c.4358-1G>A,,c.4358-1G>A,splice_acceptor_variant,Likely pathogenic,162503,,6,1595750,0.0000037599874667084444,0,0,nfe,0.00000183,22.6,,0.380,0.0100,0.305,,,0,74774,0,0,0,59954,0,0,0,29568,0,0,0,44864,0,0,0,49218,0,0,0,5838,0,0,6,1177406,0,0,0,912,0,0,0,90976,0,0,0,62240,0,0 +17-43079401-T-A,17,43079401,,T,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,c.4358-2A>T,,c.4358-2A>T,splice_acceptor_variant,,,,1,1443534,6.927443343904612e-7,0,0,,,22.8,,0.380,0.0100,0.244,,,0,33376,0,0,0,44704,0,0,0,26104,0,0,0,39678,0,0,0,38638,0,0,1,5540,0,0,0,1109186,0,0,,,,,0,86152,0,0,0,60156,0,0 +17-43079402-G-GT,17,43079402,rs2052896802,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2789dup,,c.4358-2789dup,intron_variant,,,,1,152116,0.000006573930421520419,0,0,,,4.83,,0.250,0.0100,-0.811,,,1,41412,0,0,0,15258,0,0,0,3468,0,0,0,5192,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43079403-T-C,17,43079403,rs753888336,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000471181.7,c.4358-4A>G,,c.4358-4A>G,splice_region_variant,Uncertain significance,1315515,,90,1595228,0.000056418267482767355,0,0,sas,0.000804,3.84,,0.00,0.160,-0.804,,,0,74870,0,0,0,59972,0,0,0,29566,0,0,0,44834,0,0,0,49240,0,0,0,5834,0,0,0,1176816,0,0,0,912,0,0,88,90934,0,0,2,62250,0,0 +17-43079406-G-A,17,43079406,,G,A,gnomAD Exomes,PASS,NA,ENST00000471181.7,c.4358-7C>T,,c.4358-7C>T,splice_region_variant,,,,2,1442132,0.0000013868356017340992,0,0,,,5.13,,0.0500,0.0200,0.303,,,1,33350,0,0,0,44702,0,0,0,26094,0,0,0,39670,0,0,0,38662,0,0,0,5580,0,0,1,1107824,0,0,,,,,0,86112,0,0,0,60138,0,0 +17-43079410-G-A,17,43079410,rs560287183,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2796C>T,,c.4358-2796C>T,intron_variant,,,,21,1592816,0.000013184197044730841,0,0,nfe,0.00001035,5.59,,0.00,0.300,0.303,,,0,74724,0,0,0,59962,0,0,0,29554,0,0,0,44858,0,0,1,49264,0,0,0,5916,0,0,19,1174550,0,0,0,912,0,0,0,90914,0,0,1,62162,0,0 +17-43079410-G-C,17,43079410,rs560287183,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2796C>G,,c.4358-2796C>G,intron_variant,,,,4,1592934,0.0000025110895994435425,0,0,nfe,6.800000000000001e-7,5.28,,0.0700,0.0300,0.303,,,0,74846,0,0,1,59982,0,0,0,29554,0,0,0,44846,0,0,0,49264,0,0,0,5894,0,0,3,1174542,0,0,0,912,0,0,0,90910,0,0,0,62184,0,0 +17-43079412-T-C,17,43079412,rs1237734526,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2798A>G,,c.4358-2798A>G,intron_variant,,,,2,1591186,0.000001256924080528612,0,0,,,5.81,,0.00,0.100,0.244,,,2,74598,0,0,0,59942,0,0,0,29554,0,0,0,44836,0,0,0,49264,0,0,0,5926,0,0,0,1173160,0,0,0,910,0,0,0,90872,0,0,0,62124,0,0 +17-43079417-T-C,17,43079417,rs201290746,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2803A>G,,c.4358-2803A>G,intron_variant,,,,103,1583512,0.00006504529173129095,0,0,nfe,0.00007107,6.78,,0.300,0.0200,0.244,,,2,74492,0,0,0,59912,0,0,0,29506,0,0,0,44790,0,0,0,49288,0,0,0,5942,0,0,99,1166090,0,0,0,908,0,0,0,90712,0,0,2,61872,0,0 +17-43079420-T-C,17,43079420,rs1440290880,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2806A>G,,c.4358-2806A>G,intron_variant,,,,1,152112,0.000006574103292310929,0,0,,,5.50,,0.00,0.0400,-0.808,,,1,41410,0,0,0,15256,0,0,0,3468,0,0,0,5194,0,0,0,10606,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43079421-A-G,17,43079421,rs2154108109,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2807T>C,,c.4358-2807T>C,intron_variant,,,,1,1423254,7.026152745750231e-7,0,0,,,6.78,,0.0700,0.0500,0.244,,,0,32926,0,0,0,44662,0,0,0,25988,0,0,0,39564,0,0,0,38704,0,0,0,5634,0,0,1,1090596,0,0,,,,,0,85686,0,0,0,59494,0,0 +17-43079426-T-C,17,43079426,rs758063472,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2812A>G,,c.4358-2812A>G,intron_variant,,,,1,152064,0.000006576178451178451,0,0,,,8.69,,0.270,0.00,0.244,,,0,41390,0,0,0,15262,0,0,0,3470,0,0,0,5186,0,0,0,10600,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43079428-A-G,17,43079428,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2814T>C,,c.4358-2814T>C,intron_variant,,,,1,613692,0.0000016294818899382752,0,0,,,7.99,,0.190,0.0300,0.244,,,0,17688,0,0,0,43730,0,0,0,20960,0,0,0,36056,0,0,0,38482,0,0,0,4066,0,0,1,349966,0,0,,,,,0,69758,0,0,0,32986,0,0 +17-43079430-G-A,17,43079430,rs777655282,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2816C>T,,c.4358-2816C>T,intron_variant,,,,1,1399946,7.143132663688456e-7,0,0,,,7.76,,0.00,0.0300,0.303,,,1,32412,0,0,0,44640,0,0,0,25834,0,0,0,39436,0,0,0,38754,0,0,0,5620,0,0,0,1069304,0,0,,,,,0,85254,0,0,0,58692,0,0 +17-43079430-G-C,17,43079430,rs777655282,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2816C>G,,c.4358-2816C>G,intron_variant,,,,1,1399946,7.143132663688456e-7,0,0,,,7.41,,0.00,0.0900,0.303,,,0,32412,0,0,0,44640,0,0,0,25834,0,0,0,39436,0,0,0,38754,0,0,0,5620,0,0,0,1069304,0,0,,,,,1,85254,0,0,0,58692,0,0 +17-43079431-G-A,17,43079431,rs1005470644,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2817C>T,,c.4358-2817C>T,intron_variant,,,,3,1550852,0.00000193442056366436,0,0,,,7.49,,0.00,0.0200,0.303,,,0,73806,0,0,0,59890,0,0,0,29300,0,0,0,44626,0,0,0,49348,0,0,0,5930,0,0,2,1136214,0,0,0,912,0,0,1,90056,0,0,0,60770,0,0 +17-43079432-G-C,17,43079432,rs1256065626,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2818C>G,,c.4358-2818C>G,intron_variant,,,,1,1393422,7.176576801571957e-7,0,0,,,7.39,,0.00,0.100,0.303,,,0,32266,0,0,0,44634,0,0,0,25800,0,0,1,39416,0,0,0,38752,0,0,0,5600,0,0,0,1063344,0,0,,,,,0,85116,0,0,0,58494,0,0 +17-43079432-G-A,17,43079432,rs1256065626,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2818C>T,,c.4358-2818C>T,intron_variant,,,,2,1545534,0.0000012940511176072477,0,0,,,7.75,,0.00,0.110,0.303,,,0,73698,0,0,0,59894,0,0,0,29268,0,0,0,44602,0,0,0,49362,0,0,0,5916,0,0,2,1131358,0,0,0,910,0,0,0,89940,0,0,0,60586,0,0 +17-43079434-A-G,17,43079434,rs1282888483,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2820T>C,,c.4358-2820T>C,intron_variant,,,,1,613712,0.0000016294287874442736,0,0,,,8.91,,0.00,0.0100,0.244,,,0,17684,0,0,1,43720,0,0,0,20968,0,0,0,36058,0,0,0,38496,0,0,0,4080,0,0,0,349966,0,0,,,,,0,69760,0,0,0,32980,0,0 +17-43079435-C-T,17,43079435,rs746872895,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2821G>A,,c.4358-2821G>A,intron_variant,,,,29,1538500,0.000018849528761780954,0,0,amr,0.000022590000000000006,4.59,,0.0300,0.00,-1.85,,,1,73526,0,0,4,59856,0,0,0,29242,0,0,2,44584,0,0,0,49334,0,0,0,5902,0,0,20,1125086,0,0,0,912,0,0,1,89786,0,0,1,60272,0,0 +17-43079436-G-A,17,43079436,rs1215533327,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2822C>T,,c.4358-2822C>T,intron_variant,,,,13,1383856,0.000009394040998485392,0,0,nfe,0.00000479,7.66,,0.00,0.0200,0.303,,,0,32078,0,0,1,44602,0,0,1,25754,0,0,0,39372,0,0,0,38758,0,0,0,5562,0,0,10,1054680,0,0,,,,,0,84932,0,0,1,58118,0,0 +17-43079441-C-T,17,43079441,rs2154108794,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2827G>A,,c.4358-2827G>A,intron_variant,,,,2,1375150,0.000001454386794167909,0,0,,,10.7,,0.00,0.0300,0.305,,,0,31900,0,0,0,44602,0,0,0,25706,0,0,0,39352,0,0,0,38808,0,0,0,5580,0,0,1,1046638,0,0,,,,,0,84804,0,0,1,57760,0,0 +17-43079443-G-A,17,43079443,rs781317624,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2829C>T,,c.4358-2829C>T,intron_variant,,,,4,1508658,0.000002651362999433934,0,0,sas,0.00001446,10.8,,0.00,0.0200,0.303,,,0,72906,0,0,0,59838,0,0,0,29052,0,0,0,44468,0,0,0,49428,0,0,0,5852,0,0,0,1097696,0,0,0,912,0,0,4,89294,0,0,0,59212,0,0 +17-43079443-G-C,17,43079443,rs781317624,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2829C>G,,c.4358-2829C>G,intron_variant,,,,1,1356522,7.371793454142285e-7,0,0,,,10.2,,0.00,0.0300,0.303,,,0,31482,0,0,0,44580,0,0,0,25582,0,0,0,39272,0,0,0,38814,0,0,0,5536,0,0,1,1029670,0,0,,,,,0,84460,0,0,0,57126,0,0 +17-43079444-T-C,17,43079444,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2830A>G,,c.4358-2830A>G,intron_variant,,,,1,613768,0.0000016292801188722774,0,0,,,13.2,,0.0400,0.0100,0.244,,,0,17676,0,0,0,43714,0,0,0,20970,0,0,0,36058,0,0,0,38570,0,0,0,4084,0,0,1,349954,0,0,,,,,0,69764,0,0,0,32978,0,0 +17-43079449-A-C,17,43079449,rs1467914773,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2835T>G,,c.4358-2835T>G,intron_variant,,,,1,613830,0.0000016291155531661862,0,0,,,13.0,,0.00,0.0600,0.244,,,0,17676,0,0,1,43722,0,0,0,20968,0,0,0,36060,0,0,0,38598,0,0,0,4100,0,0,0,349962,0,0,,,,,0,69762,0,0,0,32982,0,0 +17-43079451-A-T,17,43079451,rs1336444388,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2837T>A,,c.4358-2837T>A,intron_variant,,,,2,152228,0.000013138187455658618,0,0,afr,0.00000799,13.5,,0.00,0.0200,0.237,,,2,41460,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10626,0,0,0,316,0,0,0,68038,0,0,0,910,0,0,0,4838,0,0,0,2094,0,0 +17-43079451-A-C,17,43079451,rs1336444388,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2837T>G,,c.4358-2837T>G,intron_variant,,,,11,1479976,0.000007432552960318275,0,0,nfe,0.00000472,13.6,,0.00,0.0400,0.237,,,0,72378,0,0,0,59812,0,0,0,28850,0,0,1,44302,0,0,0,49484,0,0,0,5834,0,0,10,1071312,0,0,0,910,0,0,0,88774,0,0,0,58320,0,0 +17-43079451-A-G,17,43079451,rs1336444388,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2837T>C,,c.4358-2837T>C,intron_variant,,,,1,1327748,7.531549661532158e-7,0,0,,,14.1,,0.00,0.00,0.237,,,0,30918,0,0,0,44532,0,0,0,25380,0,0,0,39106,0,0,0,38858,0,0,0,5518,0,0,1,1003274,0,0,,,,,0,83936,0,0,0,56226,0,0 +17-43079452-G-C,17,43079452,rs927901466,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2838C>G,,c.4358-2838C>G,intron_variant,,,,10,1477144,0.000006769820680989802,0,0,amr,0.00004295999999999998,12.9,,0.00,0.0400,0.294,,,0,72284,0,0,6,59796,0,0,0,28828,0,0,0,44274,0,0,1,49466,0,0,1,5826,0,0,1,1068884,0,0,0,912,0,0,0,88710,0,0,1,58164,0,0 +17-43079454-A-G,17,43079454,rs960628962,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2840T>C,,c.4358-2840T>C,intron_variant,,,,6,1466630,0.000004091011366193246,0,0,amr,0.00001332,13.8,,0.00,0.00,0.237,,,0,72130,0,0,3,59784,0,0,0,28794,0,0,0,44232,0,0,0,49478,0,0,0,5790,0,0,3,1059198,0,0,0,912,0,0,0,88468,0,0,0,57844,0,0 +17-43079455-AT-A,17,43079455,rs2052900405,AT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2842del,,c.4358-2842del,intron_variant,,,,1,152216,0.0000065696116045619385,0,0,,,10.9,,0.00,0.0300,0.244,,,0,41460,0,0,0,15268,0,0,0,3472,0,0,0,5200,0,0,1,10620,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43079458-C-A,17,43079458,rs541449811,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2844G>T,,c.4358-2844G>T,intron_variant,,,,23,1452526,0.000015834484202003956,0,0,nfe,0.00001463,12.9,,0.00,0.0200,0.305,,,0,71844,0,0,0,59752,0,0,0,28684,0,0,0,44166,0,0,0,49412,0,0,0,5770,0,0,23,1046508,0,0,0,912,0,0,0,88154,0,0,0,57324,0,0 +17-43079459-C-T,17,43079459,rs2154109326,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2845G>A,,c.4358-2845G>A,intron_variant,,,,4,1295800,0.000003086896125945362,0,0,sas,0.00000957,13.3,,0.00,0.0300,0.305,,,0,30348,0,0,0,44492,0,0,0,25196,0,0,0,38942,0,0,0,38862,0,0,0,5450,0,0,0,974080,0,0,,,,,3,83292,0,0,1,55138,0,0 +17-43079461-C-T,17,43079461,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2847G>A,,c.4358-2847G>A,intron_variant,,,,2,1290408,0.0000015498973967923323,0,0,,,13.3,,0.00,0.0300,0.305,,,0,30200,0,0,0,44488,0,0,0,25194,0,0,0,38934,0,0,2,38868,0,0,0,5428,0,0,0,969214,0,0,,,,,0,83150,0,0,0,54932,0,0 +17-43079462-A-T,17,43079462,rs564288136,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2848T>A,,c.4358-2848T>A,intron_variant,,,,22,1431738,0.000015365939857711398,0,0,nfe,0.00001402,14.2,,0.00,0.0200,0.244,,,0,71434,0,0,0,59752,0,0,0,28582,0,0,0,44104,0,0,0,49502,0,0,0,5696,0,0,22,1027318,0,0,0,912,0,0,0,87760,0,0,0,56678,0,0 +17-43079462-A-G,17,43079462,rs564288136,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2848T>C,,c.4358-2848T>C,intron_variant,,,,1,152202,0.000006570215897294385,0,0,,,14.5,,0.00,0.0400,0.244,,,0,41456,0,0,0,15278,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43079464-A-C,17,43079464,rs1168912385,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2850T>G,,c.4358-2850T>G,intron_variant,,,,6,1267632,0.000004733234882047787,0,0,nfe,0.00000212,14.2,,0.00,0.0100,0.244,,,0,29706,0,0,0,44462,0,0,0,25054,0,0,0,38842,0,0,0,38878,0,0,0,5370,0,0,6,948460,0,0,,,,,0,82666,0,0,0,54194,0,0 +17-43079465-A-G,17,43079465,rs2052901156,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4358-2851T>C,,c.4358-2851T>C,intron_variant,,,,3,1272200,0.0000023581197924854584,0,0,nfe,8.4e-7,14.3,,0.00,0.0900,0.244,,,0,29792,0,0,0,44464,0,0,0,25086,0,0,0,38848,0,0,0,38918,0,0,0,5384,0,0,3,952592,0,0,,,,,0,82786,0,0,0,54330,0,0 +17-43079466-G-A,17,43079466,rs1409856549,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2852C>T,,c.4358-2852C>T,intron_variant,,,,2,152304,0.000013131631473894317,0,0,eas,0.00000754,12.9,,0.00,0.0200,0.303,,,0,41562,0,0,0,15290,0,0,0,3472,0,0,2,5186,0,0,0,10616,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4830,0,0,0,2110,0,0 +17-43079470-T-C,17,43079470,rs1413913141,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4358-2856A>G,,c.4358-2856A>G,intron_variant,,,,1,152156,0.0000065722022135177055,0,0,,,14.5,,0.00,0.0100,0.244,,,0,41444,0,0,0,15276,0,0,0,3470,0,0,1,5190,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,910,0,0,0,4830,0,0,0,2086,0,0 +17-43079472-C-A,17,43079472,rs186914333,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2858G>T,,c.4358-2858G>T,intron_variant,Likely benign,223566,,1144,1395640,0.0008196956235132269,0,0,nfe,0.00099403,12.4,,0.00,0.0100,0.305,,,13,70616,0,0,3,59684,0,0,0,28372,0,0,0,43916,0,0,44,49534,0,0,0,5658,0,0,1041,994288,0,0,0,910,0,0,0,87068,0,0,43,55594,0,0 +17-43079473-C-T,17,43079473,rs191331108,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4358-2859G>A,,c.4358-2859G>A,intron_variant,Likely benign,223565,,1137,1383122,0.0008220532968169113,0,0,nfe,0.0009984,13.6,,0.00,0.0100,0.305,,,13,70362,0,0,3,59670,0,0,0,28292,0,0,0,43874,0,0,44,49518,0,0,0,5616,0,0,1034,982948,0,0,0,906,0,0,0,86824,0,0,43,55112,0,0 +17-43082330-T-C,17,43082330,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+74A>G,,c.4357+74A>G,intron_variant,,,,1,743542,0.0000013449139389570462,0,0,,,0.637,,0.00,0.0100,0.0210,,,0,13788,0,0,0,868,0,0,0,4646,0,0,0,3200,0,0,0,246,0,0,0,1460,0,0,1,680438,0,0,,,,,0,14564,0,0,0,24332,0,0 +17-43082331-A-C,17,43082331,rs2053034107,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+73T>G,,c.4357+73T>G,intron_variant,,,,1,152164,0.000006571856680949502,0,0,,,4.88,,0.00,0.0100,-0.0180,,,1,41434,0,0,0,15266,0,0,0,3468,0,0,0,5196,0,0,0,10618,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43082337-CAGA-C,17,43082337,rs1188139423,CAGA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+64_4357+66del,,c.4357+64_4357+66del,intron_variant,,,,2,760510,0.0000026298142036265136,0,0,,,8.75,,0.00,0.00,1.45,,,1,58632,0,0,0,57596,0,0,0,23310,0,0,0,41028,0,0,0,61564,0,0,0,4358,0,0,0,406896,0,0,0,910,0,0,1,71918,0,0,0,34298,0,0 +17-43082340-A-G,17,43082340,rs577478710,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+64T>C,,c.4357+64T>C,intron_variant,,,,9,1532172,0.00000587401414462606,0,0,nfe,0.0000031,12.9,,0.00,0.00,0.271,,,0,73132,0,0,0,58740,0,0,0,28334,0,0,1,44340,0,0,0,62326,0,0,0,5852,0,0,8,1111378,0,0,0,912,0,0,0,87616,0,0,0,59542,0,0 +17-43082343-G-C,17,43082343,rs2154142714,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+61C>G,,c.4357+61C>G,intron_variant,,,,1,1386824,7.210720322117298e-7,0,0,,,13.6,,0.00,0.00,2.75,,,0,31772,0,0,0,43740,0,0,0,25050,0,0,0,39192,0,0,0,51950,0,0,0,5582,0,0,1,1048498,0,0,,,,,0,83330,0,0,0,57710,0,0 +17-43082345-G-T,17,43082345,rs2053034554,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+59C>A,,c.4357+59C>A,intron_variant,,,,17,1554258,0.00001093769502875327,0,0,nfe,0.00000719,5.91,,0.00,0.00,0.155,,,0,73638,0,0,0,59298,0,0,0,28756,0,0,0,44444,0,0,0,62776,0,0,0,5946,0,0,14,1129402,0,0,0,912,0,0,0,88702,0,0,3,60384,0,0 +17-43082346-A-C,17,43082346,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+58T>G,,c.4357+58T>G,intron_variant,,,,1,789786,0.0000012661657714874663,0,0,,,8.89,,0.00,0.0300,0.0530,,,0,14852,0,0,0,938,0,0,0,4924,0,0,0,3382,0,0,0,270,0,0,0,1540,0,0,1,722500,0,0,,,,,0,15540,0,0,0,25840,0,0 +17-43082347-T-C,17,43082347,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+57A>G,,c.4357+57A>G,intron_variant,,,,1,1409220,7.096124097018209e-7,0,0,,,10.2,,0.00,0.00,-1.48,,,0,32312,0,0,0,44002,0,0,0,25338,0,0,0,39286,0,0,0,52356,0,0,0,5634,0,0,1,1067604,0,0,,,,,0,84220,0,0,0,58468,0,0 +17-43082348-A-G,17,43082348,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+56T>C,,c.4357+56T>C,intron_variant,,,,1,617742,0.0000016187987865484296,0,0,,,13.5,,0.00,0.00,0.598,,,0,17422,0,0,0,43050,0,0,0,20474,0,0,0,35894,0,0,0,52164,0,0,0,4100,0,0,1,343336,0,0,,,,,0,68720,0,0,0,32582,0,0 +17-43082350-A-AGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTT,17,43082350,,A,AGGGGAAGGAAAGAATTTTGCTTAAGATATCAGTGTTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+17_4357+53dup,,c.4357+17_4357+53dup,intron_variant,,,,1,1417296,7.055689143270001e-7,0,0,,,4.20,,0.00,0.0100,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,1,1074294,0,0,,,,,0,84682,0,0,0,58740,0,0 +17-43082350-A-G,17,43082350,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+54T>C,,c.4357+54T>C,intron_variant,,,,1,1417296,7.055689143270001e-7,0,0,,,9.28,,0.00,0.00,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,0,1074294,0,0,,,,,1,84682,0,0,0,58740,0,0 +17-43082350-A-C,17,43082350,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+54T>G,,c.4357+54T>G,intron_variant,,,,2,1417296,0.0000014111378286540002,0,0,nfe,3.1e-7,9.24,,0.00,0.00,2.06,,,0,32460,0,0,0,44060,0,0,0,25482,0,0,0,39314,0,0,0,52608,0,0,0,5656,0,0,2,1074294,0,0,,,,,0,84682,0,0,0,58740,0,0 +17-43082351-G-A,17,43082351,rs2154142859,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+53C>T,,c.4357+53C>T,intron_variant,,,,1,619550,0.000001614074731660076,0,0,,,6.22,,0.00,0.00,-0.378,,,0,17484,0,0,0,43258,0,0,0,20584,0,0,1,35902,0,0,0,52340,0,0,0,4108,0,0,0,344198,0,0,,,,,0,69006,0,0,0,32670,0,0 +17-43082352-G-A,17,43082352,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+52C>T,,c.4357+52C>T,intron_variant,,,,3,1422294,0.0000021092685478529755,0,0,sas,0.00000391,12.2,,0.00,0.00,0.964,,,1,32582,0,0,0,44200,0,0,0,25582,0,0,0,39352,0,0,0,52642,0,0,0,5670,0,0,0,1078410,0,0,,,,,2,84882,0,0,0,58974,0,0 +17-43082352-G-C,17,43082352,rs1597847449,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+52C>G,,c.4357+52C>G,intron_variant,,,,2,1422294,0.0000014061790319019836,0,0,eas,0.00000842,11.8,,0.00,-0.0100,0.964,,,0,32582,0,0,0,44200,0,0,0,25582,0,0,2,39352,0,0,0,52642,0,0,0,5670,0,0,0,1078410,0,0,,,,,0,84882,0,0,0,58974,0,0 +17-43082355-A-T,17,43082355,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+49T>A,,c.4357+49T>A,intron_variant,,,,1,1430092,6.992557122199131e-7,0,0,,,3.02,,0.00,0.00,0.552,,,1,32732,0,0,0,44198,0,0,0,25654,0,0,0,39398,0,0,0,52844,0,0,0,5694,0,0,0,1085196,0,0,,,,,0,85192,0,0,0,59184,0,0 +17-43082357-G-T,17,43082357,rs2154143009,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+47C>A,,c.4357+47C>A,intron_variant,,,,2,1434758,0.0000013939633025220978,0,0,,,2.99,,0.00,0.00,0.386,,,0,32826,0,0,0,44256,0,0,0,25720,0,0,0,39450,0,0,0,52942,0,0,0,5694,0,0,1,1089116,0,0,,,,,0,85358,0,0,1,59396,0,0 +17-43082358-G-T,17,43082358,rs1387217617,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+46C>A,,c.4357+46C>A,intron_variant,,,,2,1588742,0.0000012588576370486837,0,0,,,3.02,,0.00,0.00,1.54,,,0,74328,0,0,0,59568,0,0,0,29246,0,0,0,44652,0,0,0,63596,0,0,2,6010,0,0,0,1158604,0,0,0,912,0,0,0,90286,0,0,0,61540,0,0 +17-43082358-G-C,17,43082358,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+46C>G,,c.4357+46C>G,intron_variant,,,,2,1436558,0.0000013922166734653248,0,0,sas,0.00000389,3.21,,0.00,0.00,1.54,,,0,32880,0,0,0,44298,0,0,0,25774,0,0,0,39458,0,0,0,52984,0,0,0,5694,0,0,0,1090570,0,0,,,,,2,85452,0,0,0,59448,0,0 +17-43082358-G-A,17,43082358,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+46C>T,,c.4357+46C>T,intron_variant,,,,1,1436558,6.961083367326624e-7,0,0,,,3.48,,0.00,0.00,1.54,,,0,32880,0,0,0,44298,0,0,0,25774,0,0,0,39458,0,0,0,52984,0,0,0,5694,0,0,1,1090570,0,0,,,,,0,85452,0,0,0,59448,0,0 +17-43082359-A-G,17,43082359,rs1597847459,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+45T>C,,c.4357+45T>C,intron_variant,,,,5,622142,0.00000803675045246905,0,0,eas,0.00003793999999999998,8.47,,0.00,0.00,1.10,,,0,17500,0,0,0,43326,0,0,0,20750,0,0,4,35926,0,0,0,52822,0,0,0,4116,0,0,1,345490,0,0,,,,,0,69432,0,0,0,32780,0,0 +17-43082362-G-C,17,43082362,rs745366396,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+42C>G,,c.4357+42C>G,intron_variant,,,,1,1444938,6.920712168965035e-7,0,0,,,4.29,,0.00,0.00,0.370,,,0,33058,0,0,0,44298,0,0,0,25870,0,0,0,39510,0,0,0,53138,0,0,0,5706,0,0,1,1097910,0,0,,,,,0,85714,0,0,0,59734,0,0 +17-43082362-G-T,17,43082362,rs745366396,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+42C>A,,c.4357+42C>A,intron_variant,,,,49,1444936,0.00003391153656632543,0,0,nfe,0.00003124,4.13,,0.00,0.00,0.370,,,1,33058,0,0,0,44300,0,0,0,25870,0,0,0,39510,0,0,0,53138,0,0,0,5706,0,0,45,1097906,0,0,,,,,1,85714,0,0,2,59734,0,0 +17-43082367-T-C,17,43082367,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+37A>G,,c.4357+37A>G,intron_variant,,,,1,1449266,6.90004457428795e-7,0,0,,,7.53,,0.00,0.00,-0.137,,,0,33144,0,0,0,44312,0,0,0,25916,0,0,0,39536,0,0,0,53244,0,0,0,5722,0,0,1,1101666,0,0,,,,,0,85854,0,0,0,59872,0,0 +17-43082371-T-G,17,43082371,rs2053035473,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+33A>C,,c.4357+33A>C,intron_variant,,,,1,830584,0.0000012039721449004555,0,0,,,7.17,,0.00,0.00,0.494,,,0,15730,0,0,0,978,0,0,0,5136,0,0,1,3612,0,0,0,276,0,0,0,1616,0,0,0,759636,0,0,,,,,0,16398,0,0,0,27202,0,0 +17-43082373-A-G,17,43082373,rs769483972,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+31T>C,,c.4357+31T>C,intron_variant,,,,1,624088,0.0000016023381318019253,0,0,,,5.21,,0.00,-0.0100,0.779,,,0,17532,0,0,0,43368,0,0,0,20842,0,0,0,35964,0,0,0,53032,0,0,0,4122,0,0,1,346726,0,0,,,,,0,69610,0,0,0,32892,0,0 +17-43082375-G-C,17,43082375,rs2053035731,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+29C>G,,c.4357+29C>G,intron_variant,,,,1,152220,0.000006569438969911969,0,0,,,1.28,,0.00,0.00,0.367,,,1,41452,0,0,0,15276,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,0,68050,0,0,0,912,0,0,0,4836,0,0,0,2088,0,0 +17-43082375-G-A,17,43082375,rs2053035731,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+29C>T,,c.4357+29C>T,intron_variant,,,,2,831496,0.0000024053032125229707,0,0,nfe,4.4e-7,1.49,,0.00,0.00,0.367,,,0,15748,0,0,0,980,0,0,0,5142,0,0,0,3618,0,0,0,276,0,0,0,1618,0,0,2,760456,0,0,,,,,0,16420,0,0,0,27238,0,0 +17-43082377-T-C,17,43082377,rs774944967,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+27A>G,,c.4357+27A>G,intron_variant,,,,2,625936,0.0000031952148462462615,0,0,amr,0.000007610000000000001,6.45,,0.00,0.00,-0.289,,,0,17616,0,0,2,43576,0,0,0,20920,0,0,0,36000,0,0,0,53086,0,0,0,4142,0,0,0,347924,0,0,,,,,0,69690,0,0,0,32982,0,0 +17-43082378-A-G,17,43082378,rs748971390,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+26T>C,,c.4357+26T>C,intron_variant,,,,1,625924,0.000001597638051904065,0,0,,,7.54,,0.00,0.00,-0.699,,,0,17612,0,0,0,43588,0,0,0,20906,0,0,0,35994,0,0,0,53088,0,0,0,4142,0,0,0,347924,0,0,,,,,1,69688,0,0,0,32982,0,0 +17-43082382-GTGTT-G,17,43082382,rs2053036508,GTGTT,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+18_4357+21del,,c.4357+18_4357+21del,intron_variant,Likely benign,1111403,,1,152182,0.0000065710793654965765,0,0,,,0.983,,0.00,0.00,0.325,,,1,41452,0,0,0,15270,0,0,0,3470,0,0,0,5192,0,0,0,10614,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43082382-G-A,17,43082382,rs1407411387,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+22C>T,,c.4357+22C>T,intron_variant,,,,5,626810,0.000007976898900783331,0,0,nfe,0.00000229,3.58,,0.00,0.00,0.325,,,0,17660,0,0,0,43664,0,0,0,20950,0,0,0,36008,0,0,0,53098,0,0,0,4144,0,0,3,348526,0,0,,,,,0,69742,0,0,2,33018,0,0 +17-43082382-G-C,17,43082382,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+22C>G,,c.4357+22C>G,intron_variant,,,,1,626810,0.0000015953797801566663,0,0,,,3.15,,0.00,0.00,0.325,,,0,17660,0,0,1,43664,0,0,0,20950,0,0,0,36008,0,0,0,53098,0,0,0,4144,0,0,0,348526,0,0,,,,,0,69742,0,0,0,33018,0,0 +17-43082385-T-G,17,43082385,rs772281432,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+19A>C,,c.4357+19A>C,intron_variant,Likely benign,240802,,7,1459516,0.000004796110491423184,0,0,nfe,0.0000026200000000000003,2.31,,0.00,0.00,-0.323,,,0,33442,0,0,0,44654,0,0,0,26098,0,0,0,39636,0,0,0,53386,0,0,0,5766,0,0,7,1110040,0,0,,,,,0,86186,0,0,0,60308,0,0 +17-43082387-T-C,17,43082387,rs80358180,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+17A>G,,c.4357+17A>G,intron_variant,Benign/Likely benign,125709,,94,1611840,0.00005831844351796704,3,0,eas,0.0003134000000000001,9.74,,0.00,0.00,0.486,,,0,74886,0,0,2,59928,0,0,0,29576,0,0,21,44830,1,0,0,64022,0,0,0,6076,0,0,3,1178196,0,0,0,912,0,0,0,91016,0,0,68,62398,2,0 +17-43082388-G-T,17,43082388,rs1060504577,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+16C>A,,c.4357+16C>A,intron_variant,Likely benign,462644,,2,626844,0.000003190586493609255,0,0,amr,0.000007590000000000001,4.51,,0.00,0.00,0.528,,,0,17656,0,0,2,43676,0,0,0,20952,0,0,0,36018,0,0,0,53104,0,0,0,4144,0,0,0,348544,0,0,,,,,0,69736,0,0,0,33014,0,0 +17-43082390-C-A,17,43082390,rs760989937,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+14G>T,,c.4357+14G>T,intron_variant,Conflicting interpretations of pathogenicity,415607,,18,1459552,0.000012332551358224989,0,0,nfe,0.00001013,1.35,,0.00,0.00,-0.713,,,0,33432,0,0,0,44640,0,0,0,26098,0,0,0,39642,0,0,0,53386,0,0,0,5764,0,0,18,1110120,0,0,,,,,0,86170,0,0,0,60300,0,0 +17-43082393-A-G,17,43082393,rs1320133860,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4357+11T>C,,c.4357+11T>C,intron_variant,,,,1,152200,0.00000657030223390276,0,0,,,1.01,,0.00,0.00,-3.24,,,1,41458,0,0,0,15268,0,0,0,3470,0,0,0,5192,0,0,0,10628,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 +17-43082396-A-T,17,43082396,rs2154143991,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+8T>A,,c.4357+8T>A,splice_region_variant,Likely benign,1547358,,1,833030,0.0000012004369590530953,0,0,,,0.786,,0.00,-0.0100,-0.452,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761832,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43082397-T-C,17,43082397,rs431825407,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+7A>G,,c.4357+7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,96931,,5,628000,0.000007961783439490445,0,0,eas,0.00002206,0.996,,0.0800,-0.0300,-0.480,,,0,17678,0,0,0,43714,0,0,0,20962,0,0,3,36036,0,0,0,53130,0,0,0,4148,0,0,2,349484,0,0,,,,,0,69776,0,0,0,33072,0,0 +17-43082398-A-G,17,43082398,rs80358143,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+6T>C,,c.4357+6T>C,intron_variant,Conflicting interpretations of pathogenicity,37585,,4,833032,0.000004801736307848918,0,0,nfe,0.0000012299999999999999,13.1,,0.0400,-0.0700,1.78,,,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,4,761832,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082400-A-G,17,43082400,rs1555583978,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4357+4T>C,,c.4357+4T>C,intron_variant,Likely benign,433711,,1,833066,0.000001200385083534798,0,0,,,2.08,,0.00,-0.0100,1.27,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,0,761864,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43082403-C-T,17,43082403,rs80358027,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4357+1G>A,,c.4357+1G>A,splice_donor_variant,Pathogenic,37584,,3,780534,0.00000384352251151135,0,0,,,33.0,,0.990,-0.870,8.89,,,2,59242,0,0,0,58994,0,0,0,24436,0,0,0,41232,0,0,1,63754,0,0,0,4442,0,0,0,417746,0,0,0,912,0,0,0,74582,0,0,0,35194,0,0 +17-43082404-C-T,17,43082404,rs1555583984,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1453Thr,p.Ala1453Thr,c.4357G>A,missense_variant,Uncertain significance,1491600,,1,1461254,6.843437212147923e-7,0,0,,,27.0,0.112,0.270,-0.210,8.89,0.0600,0.0260,0,33470,0,0,0,44680,0,0,0,26120,0,0,1,39672,0,0,0,53412,0,0,0,5768,0,0,0,1111548,0,0,,,,,0,86212,0,0,0,60372,0,0 +17-43082405-T-A,17,43082405,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1452Asn,p.Lys1452Asn,c.4356A>T,missense_variant,,,,1,832952,0.000001200549371392349,0,0,,,25.4,0.260,0.0100,-0.0400,1.80,0.0700,0.0710,0,15782,0,0,0,982,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761770,0,0,,,,,0,16456,0,0,0,27288,0,0 +17-43082408-T-C,17,43082408,rs786202387,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Glu,p.Glu1451Glu,c.4353A>G,synonymous_variant,Likely benign,185700,,2,833066,0.000002400770167069596,0,0,sas,0.00002107,6.61,,0.00,0.00,0.461,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761866,0,0,,,,,2,16458,0,0,0,27298,0,0 +17-43082409-T-C,17,43082409,rs949793708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Gly,p.Glu1451Gly,c.4352A>G,missense_variant,Conflicting interpretations of pathogenicity,480987,,11,833076,0.00001320407741910702,0,0,nfe,0.00000775,10.6,0.173,0.00,0.00,0.0740,0.250,0.0570,0,15784,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,11,761874,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082410-C-T,17,43082410,rs1555583989,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1451Lys,p.Glu1451Lys,c.4351G>A,missense_variant,Uncertain significance,482942,,2,1460792,0.0000013691203128166092,0,0,nfe,2.999999999999999e-7,18.6,0.222,0.00,0.00,4.08,0.140,0.0570,0,33406,0,0,0,44448,0,0,0,26094,0,0,0,39682,0,0,0,53410,0,0,0,5760,0,0,2,1111522,0,0,,,,,0,86130,0,0,0,60340,0,0 +17-43082412-G-C,17,43082412,rs886040226,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1450Ter,p.Ser1450Ter,c.4349C>G,stop_gained,Pathogenic,266471,lof_flag,1,1461258,6.843418479146051e-7,0,0,,,37.0,,0.0100,-0.0500,4.74,,,0,33438,0,0,0,44538,0,0,0,26106,0,0,0,39688,0,0,0,53412,0,0,0,5764,0,0,1,1111770,0,0,,,,,0,86176,0,0,0,60366,0,0 +17-43082414-T-G,17,43082414,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1449Thr,p.Thr1449Thr,c.4347A>C,synonymous_variant,,,,1,1461690,6.841395918423195e-7,0,0,,,5.31,,0.00,0.00,-2.16,,,0,33470,0,0,0,44692,0,0,0,26126,0,0,0,39690,0,0,0,53412,0,0,0,5768,0,0,1,1111900,0,0,,,,,0,86244,0,0,0,60388,0,0 +17-43082414-T-C,17,43082414,rs80356840,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1449Thr,p.Thr1449Thr,c.4347A>G,synonymous_variant,Likely benign,55176,,172,1614020,0.00010656621355373539,1,0,eas,0.003260920000000002,5.66,,0.00,0.00,-2.16,,,0,75062,0,0,0,59986,0,0,0,29596,0,0,167,44866,1,0,0,64036,0,0,0,6062,0,0,0,1179926,0,0,0,912,0,0,3,91072,0,0,2,62502,0,0 +17-43082417-G-A,17,43082417,rs1250691798,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1448Ser,p.Ser1448Ser,c.4344C>T,synonymous_variant,Conflicting interpretations of pathogenicity,479268,,1,152156,0.0000065722022135177055,0,0,,,6.90,,0.00,0.0100,1.20,,,0,41446,0,0,1,15268,0,0,0,3468,0,0,0,5194,0,0,0,10602,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 +17-43082418-C-T,17,43082418,rs80357354,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1448Asn,p.Ser1448Asn,c.4343G>A,missense_variant,Conflicting interpretations of pathogenicity,125707,,1,1461584,6.841892084204535e-7,0,0,,,2.04,0.314,0.00,0.00,-0.0730,1.00,0.00100,0,33466,0,0,0,44642,0,0,0,26122,0,0,0,39690,0,0,0,53416,0,0,0,5766,0,0,1,1111904,0,0,,,,,0,86200,0,0,0,60378,0,0 +17-43082419-T-C,17,43082419,rs80357486,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1448Gly,p.Ser1448Gly,c.4342A>G,missense_variant,Conflicting interpretations of pathogenicity,55174,,16,1613976,0.000009913406395138465,0,0,nfe,0.00000763,17.7,0.211,0.00,0.00,0.824,0.340,0.0380,0,74928,0,0,0,59978,0,0,0,29604,0,0,0,44886,0,0,0,64038,0,0,0,6082,0,0,15,1179982,0,0,0,912,0,0,0,91086,0,0,1,62480,0,0 +17-43082422-G-T,17,43082422,rs80357067,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1447Lys,p.Gln1447Lys,c.4339C>A,missense_variant,Uncertain significance,182161,,3,780902,0.000003841711251860028,0,0,,,16.2,0.253,0.00,0.00,1.16,0.110,0.0240,0,59128,0,0,0,58996,0,0,0,24452,0,0,1,41256,0,0,0,63768,0,0,0,4464,0,0,2,418114,0,0,0,912,0,0,0,74628,0,0,0,35184,0,0 +17-43082423-T-C,17,43082423,rs1555584018,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Glu,p.Glu1446Glu,c.4338A>G,synonymous_variant,Likely benign,793789,,1,833108,0.0000012003245677631232,0,0,,,3.79,,0.00,0.00,0.325,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082424-T-A,17,43082424,rs1273755215,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Val,p.Glu1446Val,c.4337A>T,missense_variant,,,,1,1461840,6.840693919991244e-7,0,0,,,19.8,0.242,0.00,-0.0100,1.55,0.0300,0.0380,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,1,53418,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43082424-T-C,17,43082424,rs1273755215,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1446Gly,p.Glu1446Gly,c.4337A>G,missense_variant,Uncertain significance,491074,,1,1461840,6.840693919991244e-7,0,0,,,14.8,0.206,0.00,0.00,1.55,0.270,0.0710,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53418,0,0,1,5768,0,0,0,1111980,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43082426-T-G,17,43082426,rs1555584033,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1445Pro,p.Pro1445Pro,c.4335A>C,synonymous_variant,Likely benign,514061,,1,628736,0.000001590492671009772,0,0,,,0.319,,0.00,0.00,-2.20,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53142,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43082428-G-T,17,43082428,rs876660684,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1445Thr,p.Pro1445Thr,c.4333C>A,missense_variant,Uncertain significance,233854,,3,628744,0.0000047714173017953255,0,0,nfe,0.00000228,15.1,0.220,0.00,-0.0100,2.21,0.180,0.0340,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53140,0,0,0,4148,0,0,3,350084,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43082429-A-G,17,43082429,rs752824502,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1444Asn,p.Asn1444Asn,c.4332T>C,synonymous_variant,Likely benign,427343,,7,780876,0.000008964291385572102,0,0,amr,0.000055149999999999985,3.88,,0.00,0.00,1.82,,,0,59120,0,0,7,59012,0,0,0,24450,0,0,0,41254,0,0,0,63748,0,0,0,4464,0,0,0,418106,0,0,0,912,0,0,0,74626,0,0,0,35184,0,0 +17-43082432-T-C,17,43082432,rs2154146970,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1443Arg,p.Arg1443Arg,c.4329A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.05,,0.00,0.00,-0.986,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082433-C-T,17,43082433,rs4986849,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Gln,p.Arg1443Gln,c.4328G>A,missense_variant,Conflicting interpretations of pathogenicity,55169,,7,781006,0.000008962799261465341,0,0,afr,0.00001344,0.963,0.314,0.00,-0.0200,-0.433,0.230,0.00,3,59260,0,0,1,59028,0,0,0,24448,0,0,0,41242,0,0,1,63754,0,0,0,4442,0,0,2,418090,0,0,0,912,0,0,0,74620,0,0,0,35210,0,0 +17-43082434-G-A,17,43082434,rs41293455,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Ter,p.Arg1443Ter,c.4327C>T,stop_gained,Pathogenic,17675,lof_flag,20,1613954,0.00001239192690745833,0,0,amr,0.00001327,35.0,,0.0100,-0.0700,2.63,,,1,74910,0,0,3,59986,0,0,0,29604,0,0,0,44888,0,0,2,64008,0,0,0,6084,0,0,13,1179998,0,0,0,910,0,0,1,91080,0,0,0,62486,0,0 +17-43082434-G-C,17,43082434,rs41293455,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1443Gly,p.Arg1443Gly,c.4327C>G,missense_variant,Benign,17676,,65,1613954,0.000040273762449239567,0,0,nfe,0.00003666,16.7,0.291,0.00,-0.0100,2.63,0.270,0.0180,3,74910,0,0,5,59986,0,0,0,29604,0,0,0,44888,0,0,0,64008,0,0,0,6084,0,0,55,1179998,0,0,0,910,0,0,0,91080,0,0,2,62486,0,0 +17-43082441-C-T,17,43082441,rs2154148123,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1440Glu,p.Glu1440Glu,c.4320G>A,synonymous_variant,,,,1,628754,0.0000015904471383084641,0,0,,,2.68,,0.00,0.00,0.639,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,1,53144,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43082444-A-G,17,43082444,rs2154148532,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1439Leu,p.Leu1439Leu,c.4317T>C,synonymous_variant,Likely benign,1696295,,7,1461866,0.00000478840057843879,0,0,nfe,0.0000026200000000000003,0.109,,0.00,0.00,-4.54,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,7,1111992,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43082446-G-A,17,43082446,rs781260818,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1439Phe,p.Leu1439Phe,c.4315C>T,missense_variant,Conflicting interpretations of pathogenicity,216668,,7,1461870,0.0000047883874763145834,0,0,nfe,0.0000026200000000000003,9.44,0.252,0.00,0.00,1.10,0.0500,0.0620,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,7,1111998,0,0,,,,,0,86258,0,0,0,60392,0,0 +17-43082447-G-C,17,43082447,rs80356856,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1438Ala,p.Ala1438Ala,c.4314C>G,synonymous_variant,Likely benign,55166,,7,780846,0.000008964635792460998,0,0,nfe,0.00000696,1.75,,0.00,0.00,0.0520,,,0,59118,0,0,0,59008,0,0,0,24452,0,0,0,41262,0,0,0,63728,0,0,0,4464,0,0,7,418092,0,0,0,912,0,0,0,74620,0,0,0,35190,0,0 +17-43082453-A-G,17,43082453,rs1060915,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1436Ser,p.Ser1436Ser,c.4308T>C,synonymous_variant,Benign,125703,,539147,1613730,0.3340998804013063,92806,0,sas,0.4944675499999999,3.88,,0.00,0.00,0.148,,,13342,74998,1231,0,18975,59994,3034,0,10588,29600,1879,0,15905,44870,2872,0,25434,63978,5034,0,2225,6062,436,0,386180,1179746,63133,0,260,912,41,0,45382,91072,11623,0,20856,62498,3523,0 +17-43082454-G-A,17,43082454,rs755614810,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1436Phe,p.Ser1436Phe,c.4307C>T,missense_variant,Uncertain significance,1059740,,3,628770,0.000004771220000954244,0,0,sas,0.00001141,22.4,0.252,0.00,-0.0100,5.78,0.0100,0.143,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,3,69798,0,0,0,33098,0,0 +17-43082455-A-G,17,43082455,,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1436Pro,p.Ser1436Pro,c.4306T>C,missense_variant,,,,2,985282,0.0000020298757107102333,0,0,,,10.7,0.287,0.00,0.0100,0.517,0.280,0.129,0,57238,0,0,0,16258,0,0,0,8622,0,0,1,8820,0,0,0,10894,0,0,0,1936,0,0,1,829920,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 +17-43082457-T-C,17,43082457,rs876660809,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1435Gly,p.Asp1435Gly,c.4304A>G,missense_variant,Uncertain significance,234039,,3,628764,0.000004771265530469302,1,0,nfe,0.00000228,6.54,0.254,0.00,0.00,0.305,0.500,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,3,350096,1,0,,,,,0,69798,0,0,0,33096,0,0 +17-43082459-A-T,17,43082459,rs2154150591,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1434Arg,p.Ser1434Arg,c.4302T>A,missense_variant,,,,1,833094,0.0000012003447390090433,0,0,,,0.321,0.190,0.00,0.00,-3.83,0.220,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43082464-T-A,17,43082464,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1433Leu,p.Ile1433Leu,c.4297A>T,missense_variant,,,,1,833094,0.0000012003447390090433,0,0,,,0.0220,0.210,0.0100,0.0100,-5.77,0.280,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43082464-T-C,17,43082464,rs541512953,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1433Val,p.Ile1433Val,c.4297A>G,missense_variant,Conflicting interpretations of pathogenicity,186786,,6,985404,0.00000608887319312688,0,0,afr,0.00001388,0.00100,0.181,0.0700,0.110,-5.77,1.00,0.0100,3,57360,0,0,0,16270,0,0,0,8624,0,0,0,8808,0,0,0,10896,0,0,0,1914,0,0,3,829922,0,0,0,912,0,0,0,21286,0,0,0,29412,0,0 +17-43082467-T-C,17,43082467,rs80357157,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1432Val,p.Ile1432Val,c.4294A>G,missense_variant,Uncertain significance,1049902,,2,780978,0.0000025608916000194626,0,0,,,0.215,0.220,0.00,0.00,0.109,0.950,0.00,0,59146,0,0,0,59012,0,0,0,24450,0,0,0,41264,0,0,0,63766,0,0,0,4464,0,0,2,418140,0,0,0,912,0,0,0,74632,0,0,0,35192,0,0 +17-43082469-G-A,17,43082469,rs748839289,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1431Phe,p.Ser1431Phe,c.4292C>T,missense_variant,Uncertain significance,462643,,2,1461844,0.0000013681350404010277,0,0,,,22.4,0.229,0.00,0.00,0.403,0.00,0.271,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111968,0,0,,,,,1,86258,0,0,1,60394,0,0 +17-43082472-G-A,17,43082472,rs1597847973,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Leu,p.Pro1430Leu,c.4289C>T,missense_variant,Uncertain significance,950626,,5,628772,0.000007952008041070532,0,0,eas,0.00003782999999999998,16.0,0.150,0.00,0.0100,4.05,0.190,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,4,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,1,33098,0,0 +17-43082473-G-A,17,43082473,rs80357466,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Ser,p.Pro1430Ser,c.4288C>T,missense_variant,Conflicting interpretations of pathogenicity,55162,,1,1461848,6.840656484121468e-7,0,0,,,8.66,0.223,0.00,0.00,0.147,0.380,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43082473-G-C,17,43082473,rs80357466,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1430Ala,p.Pro1430Ala,c.4288C>G,missense_variant,Uncertain significance,531218,,3,1461848,0.0000020521969452364406,0,0,,,5.81,0.214,0.00,-0.0100,0.147,0.430,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,1,5768,0,0,0,1111972,0,0,,,,,1,86258,0,0,1,60396,0,0 +17-43082475-T-C,17,43082475,rs876659228,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1429Cys,p.Tyr1429Cys,c.4286A>G,missense_variant,Uncertain significance,231566,,3,1461856,0.0000020521857145984284,0,0,sas,0.00000385,17.2,0.308,0.00,0.00,4.13,0.0700,0.188,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,1,1111980,0,0,,,,,2,86258,0,0,0,60396,0,0 +17-43082480-G-A,17,43082480,rs1348911931,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1427Asn,p.Asn1427Asn,c.4281C>T,synonymous_variant,Likely benign,1530839,,3,1461852,0.0000020521913299020696,0,0,sas,0.00000385,2.57,,0.00,-0.0100,0.959,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111978,0,0,,,,,2,86254,0,0,0,60396,0,0 +17-43082488-G-A,17,43082488,rs768327850,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1425Ser,p.Pro1425Ser,c.4273C>T,missense_variant,Uncertain significance,252880,,5,628774,0.000007951982747378232,0,0,sas,0.000027920000000000004,14.5,0.231,0.00,0.00,-0.168,0.490,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,5,69798,0,0,0,33098,0,0 +17-43082489-C-T,17,43082489,rs398122684,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1424Gln,p.Gln1424Gln,c.4272G>A,synonymous_variant,Likely benign,427328,,1,152334,0.000006564522693554952,0,0,,,7.30,,0.00,0.00,0.982,,,0,41590,0,0,0,15290,0,0,0,3472,0,0,0,5190,0,0,0,10616,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,1,4828,0,0,0,2116,0,0 +17-43082490-T-G,17,43082490,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1424Pro,p.Gln1424Pro,c.4271A>C,missense_variant,,,,1,833072,0.0000012003764380509728,0,0,,,23.4,0.259,0.00,0.00,2.30,0.0900,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16456,0,0,0,27294,0,0 +17-43082493-C-T,17,43082493,rs876660129,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1423Asn,p.Ser1423Asn,c.4268G>A,missense_variant,Uncertain significance,946942,,1,1461840,6.840693919991244e-7,0,0,,,18.6,0.227,0.00,0.00,3.96,0.0600,0.105,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43082493-C-A,17,43082493,rs876660129,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1423Ile,p.Ser1423Ile,c.4268G>T,missense_variant,Uncertain significance,233009,,3,1461840,0.0000020522081759973734,0,0,nfe,2.999999999999999e-7,23.9,0.322,0.00,0.00,3.96,0.00,0.107,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86254,0,0,1,60392,0,0 +17-43082496-C-T,17,43082496,rs747364414,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1422Glu,p.Gly1422Glu,c.4265G>A,missense_variant,Uncertain significance,462642,,12,1613988,0.000007434999516725032,0,0,sas,0.0000036500000000000006,22.7,0.232,0.00,0.00,1.46,0.0300,0.0840,0,74904,0,0,0,59992,0,0,0,29606,0,0,0,44894,0,0,0,64022,0,0,0,6084,0,0,9,1180000,0,0,0,912,0,0,2,91086,0,0,1,62488,0,0 +17-43082498-A-T,17,43082498,rs1131692074,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1421Gln,p.His1421Gln,c.4263T>A,missense_variant,,,,1,628776,0.0000015903914907693677,0,0,,,0.229,0.243,0.00,0.00,-8.86,0.200,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082499-T-C,17,43082499,rs80357079,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1421Arg,p.His1421Arg,c.4262A>G,missense_variant,Conflicting interpretations of pathogenicity,55157,,15,1614074,0.000009293254212632135,0,0,amr,0.00003233,22.8,0.236,0.00,0.00,2.96,0.0400,0.0240,0,74942,0,0,5,60002,0,0,0,29606,0,0,0,44894,0,0,0,64044,0,0,0,6084,0,0,9,1180010,0,0,0,912,0,0,0,91090,0,0,1,62490,0,0 +17-43082500-G-A,17,43082500,rs80357013,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1421Tyr,p.His1421Tyr,c.4261C>T,missense_variant,Conflicting interpretations of pathogenicity,55156,,26,1614024,0.000016108806312669453,0,0,amr,0.00007732999999999998,24.9,0.174,0.00,0.00,5.81,0.00,0.129,0,74934,0,0,9,59990,0,0,0,29604,0,0,0,44898,0,0,0,64026,0,0,0,6084,0,0,12,1180000,0,0,0,912,0,0,0,91086,0,0,5,62490,0,0 +17-43082503-G-C,17,43082503,rs80357305,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1420Glu,p.Gln1420Glu,c.4258C>G,missense_variant,Uncertain significance,230483,,2,833086,0.000002400712531479343,0,0,nfe,4.4e-7,20.5,0.171,0.00,0.0100,3.45,0.130,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761880,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082504-T-C,17,43082504,rs2154154906,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Glu,p.Glu1419Glu,c.4257A>G,synonymous_variant,Likely benign,1554722,,1,833106,0.0000012003274493281767,0,0,,,8.78,,0.00,0.00,0.741,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082506-C-G,17,43082506,rs80357309,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Gln,p.Glu1419Gln,c.4255G>C,missense_variant,Benign,55154,,6,1461862,0.000004104354583401169,0,0,nfe,0.00000194,24.4,0.234,0.00,-0.0100,7.08,0.00,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43082506-C-T,17,43082506,rs80357309,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Lys,p.Glu1419Lys,c.4255G>A,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,25.4,0.213,0.00,0.00,7.08,0.00,0.0380,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43082506-C-A,17,43082506,rs80357309,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1419Ter,p.Glu1419Ter,c.4255G>T,stop_gained,Pathogenic,266463,lof_flag,1,1461862,6.840590972335282e-7,0,0,,,37.0,,0.00,-0.0500,7.08,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111986,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43082507-T-C,17,43082507,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1418Leu,p.Leu1418Leu,c.4254A>G,synonymous_variant,,,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,5.95,,0.00,-0.0100,-0.934,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43082508-A-G,17,43082508,rs397509157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1418Ser,p.Leu1418Ser,c.4253T>C,missense_variant,Uncertain significance,246517,,1,628776,0.0000015903914907693677,0,0,,,27.9,0.241,0.00,-0.0100,6.33,0.00,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082510-C-T,17,43082510,rs777057839,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1417Val,p.Val1417Val,c.4251G>A,synonymous_variant,Likely benign,194081,,4,152194,0.00002628224502937041,0,0,afr,0.00003248,8.05,,0.00,0.00,0.753,,,4,41462,0,0,0,15266,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68044,0,0,0,910,0,0,0,4824,0,0,0,2090,0,0 +17-43082515-C-T,17,43082515,rs370999077,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1416Thr,p.Ala1416Thr,c.4246G>A,missense_variant,Uncertain significance,491073,,13,1614054,0.000008054253451247604,0,0,nfe,0.00000542,26.9,0.201,0.00,-0.0200,8.90,0.00,0.104,0,74928,0,0,0,59986,0,0,0,29606,0,0,1,44900,0,0,0,64030,0,0,0,6084,0,0,12,1180036,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 +17-43082516-T-C,17,43082516,rs41293453,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1415Glu,p.Glu1415Glu,c.4245A>G,synonymous_variant,Likely benign,55151,,82,1614090,0.000050802619432621474,0,0,nfe,0.00005545,10.9,,0.00,-0.0100,0.627,,,2,74938,0,0,0,60002,0,0,0,29606,0,0,0,44894,0,0,0,64042,0,0,0,6084,0,0,80,1180032,0,0,0,912,0,0,0,91094,0,0,0,62486,0,0 +17-43082517-TC-T,17,43082517,rs80357981,TC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1415LysfsTer4,p.Glu1415LysfsTer4,c.4243del,frameshift_variant,Pathogenic,37578,lof_flag,1,152218,0.000006569525286102826,0,0,,,33.0,,0.00,-0.160,6.36,,,0,41468,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43082518-C-T,17,43082518,rs1057519558,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1415Lys,p.Glu1415Lys,c.4243G>A,missense_variant,Uncertain significance,462639,,1,628774,0.0000015903965494756462,0,0,,,27.8,0.206,0.00,0.0100,4.29,0.00,0.0380,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43082519-T-C,17,43082519,rs1057521982,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1414Leu,p.Leu1414Leu,c.4242A>G,synonymous_variant,Likely benign,384529,,2,985340,0.000002029756226277224,0,0,,,10.0,,0.00,0.0100,2.76,,,2,57252,0,0,0,16266,0,0,0,8624,0,0,0,8834,0,0,0,10896,0,0,0,1936,0,0,0,829938,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 +17-43082520-A-G,17,43082520,rs878854951,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1414Pro,p.Leu1414Pro,c.4241T>C,missense_variant,Uncertain significance,240801,,1,152226,0.000006569180034948038,0,0,,,28.8,0.318,0.00,0.0100,6.33,,,1,41470,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43082522-T-C,17,43082522,rs2154157156,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1413Glu,p.Glu1413Glu,c.4239A>G,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,,,5.12,,0.00,-0.0100,-0.744,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43082524-C-G,17,43082524,rs397509153,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1413Gln,p.Glu1413Gln,c.4237G>C,missense_variant,Uncertain significance,1738950,,2,1461874,0.0000013681069640748791,0,0,nfe,2.999999999999999e-7,13.7,0.262,0.00,0.00,2.47,0.480,0.255,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43082524-C-T,17,43082524,rs397509153,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1413Lys,p.Glu1413Lys,c.4237G>A,missense_variant,Uncertain significance,824708,,2,1614070,0.0000012391036324322985,0,0,,,16.9,0.199,0.00,0.0100,2.47,0.630,0.0780,1,74930,0,0,0,60004,0,0,0,29606,0,0,1,44902,0,0,0,64020,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,0,91092,0,0,0,62488,0,0 +17-43082527-C-T,17,43082527,rs765183110,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1412Thr,p.Ala1412Thr,c.4234G>A,missense_variant,Uncertain significance,491072,,1,628774,0.0000015903965494756462,0,0,,,26.6,0.214,0.00,0.00,7.13,0.00,0.150,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082530-T-C,17,43082530,rs587781768,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1411Val,p.Met1411Val,c.4231A>G,missense_variant,Uncertain significance,141465,,2,985318,0.000002029801546302818,0,0,,,25.4,0.158,0.00,0.00,6.36,0.00,0.0620,1,57246,0,0,1,16264,0,0,0,8624,0,0,0,8834,0,0,0,10890,0,0,0,1936,0,0,0,829936,0,0,0,912,0,0,0,21290,0,0,0,29386,0,0 +17-43082531-T-C,17,43082531,rs1555584217,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1410Glu,p.Glu1410Glu,c.4230A>G,synonymous_variant,Likely benign,496379,,2,833110,0.0000024006433724238097,0,0,afr,0.00002192,10.5,,0.0100,0.0100,0.345,,,2,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082534-C-G,17,43082534,rs786201618,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1409His,p.Gln1409His,c.4227G>C,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,24.4,0.217,0.00,0.0100,3.59,0.00,0.804,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082536-G-C,17,43082536,rs886040218,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1409Glu,p.Gln1409Glu,c.4225C>G,missense_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,22.3,0.217,0.00,0.0100,4.82,0.0300,0.0120,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082538-T-G,17,43082538,rs1555584227,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1408Pro,p.Gln1408Pro,c.4223A>C,missense_variant,Uncertain significance,531425,,1,833106,0.0000012003274493281767,0,0,,,26.0,0.247,0.0100,0.0400,2.35,0.00,0.454,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43082539-G-A,17,43082539,rs80356989,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1408Ter,p.Gln1408Ter,c.4222C>T,stop_gained,Pathogenic,55145,lof_flag,3,985268,0.0000030448568308318145,0,0,nfe,9.6e-7,38.0,,0.00,-0.120,4.71,,,0,57226,0,0,0,16258,0,0,0,8624,0,0,0,8824,0,0,0,10876,0,0,0,1936,0,0,3,829940,0,0,0,912,0,0,0,21286,0,0,0,29386,0,0 +17-43082541-A-T,17,43082541,rs80357492,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1407His,p.Leu1407His,c.4220T>A,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,28.0,0.283,0.00,0.0100,6.33,0.00,0.453,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082543-C-A,17,43082543,rs1800707,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1406Asn,p.Lys1406Asn,c.4218G>T,missense_variant,Uncertain significance,999083,,11,833110,0.000013203538548330953,0,0,nfe,0.00000775,25.2,0.242,0.360,0.340,2.05,0.00,0.184,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,11,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082547-A-G,17,43082547,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1405Thr,p.Ile1405Thr,c.4214T>C,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,25.7,0.201,0.00,0.0100,3.65,0.0300,0.0450,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43082548-T-C,17,43082548,rs80357353,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1405Val,p.Ile1405Val,c.4213A>G,missense_variant,Conflicting interpretations of pathogenicity,37575,,39,1614082,0.000024162341194561367,1,0,sas,0.00022773999999999998,18.5,0.195,0.0500,-0.0200,1.59,0.140,0.00300,0,74938,0,0,0,60002,0,0,0,29602,0,0,0,44900,0,0,0,64026,0,0,0,6084,0,0,7,1180048,0,0,0,910,0,0,29,91088,1,0,3,62484,0,0 +17-43082550-A-G,17,43082550,rs80356916,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1404Pro,p.Leu1404Pro,c.4211T>C,missense_variant,Uncertain significance,55143,,1,833110,0.0000012003216862119048,0,0,,,29.0,0.410,0.0100,0.00,6.33,0.00,0.454,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43082552-G-A,17,43082552,rs786201224,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1403Asn,p.Asn1403Asn,c.4209C>T,synonymous_variant,Likely benign,184015,,7,1614034,0.000004336959444472669,0,0,amr,0.000022550000000000003,8.22,,0.00,0.0100,2.02,,,0,74908,0,0,4,59998,0,0,0,29606,0,0,0,44898,0,0,0,64014,0,0,0,6084,0,0,2,1180042,0,0,0,912,0,0,0,91084,0,0,1,62488,0,0 +17-43082556-T-C,17,43082556,rs80356882,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His1402Arg,p.His1402Arg,c.4205A>G,missense_variant,Uncertain significance,55141,,1,152216,0.0000065696116045619385,0,0,,,23.1,0.451,0.0300,0.0200,2.95,,,1,41458,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43082557-G-A,17,43082557,rs80357365,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1402Tyr,p.His1402Tyr,c.4204C>T,missense_variant,Benign,55140,,45,1614020,0.00002788069540650054,0,0,nfe,0.00002585,22.8,0.389,0.0100,-0.0200,5.05,0.0400,0.0230,1,74914,0,0,0,59998,0,0,1,29606,0,0,0,44900,0,0,0,63994,0,0,0,6084,0,0,41,1180040,0,0,0,912,0,0,0,91084,0,0,2,62488,0,0 +17-43082561-C-G,17,43082561,rs374416358,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1400Ile,p.Met1400Ile,c.4200G>C,missense_variant,Uncertain significance,801074,,1,152160,0.000006572029442691903,0,0,,,22.6,0.544,0.00,0.0100,1.98,,,1,41438,0,0,0,15262,0,0,0,3472,0,0,0,5204,0,0,0,10608,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 +17-43082562-A-T,17,43082562,rs80357473,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Met1400Lys,p.Met1400Lys,c.4199T>A,missense_variant,Uncertain significance,653845,,1,152214,0.0000065696979252893955,0,0,,,27.5,0.695,0.00,0.00,6.33,,,1,41448,0,0,0,15276,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68050,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43082563-T-C,17,43082563,rs80357306,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1400Val,p.Met1400Val,c.4198A>G,missense_variant,Uncertain significance,55137,,3,1461860,0.000002052180099325517,0,0,nfe,7.200000000000001e-7,25.6,0.517,0.0300,0.0100,6.36,0.00,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53406,0,0,0,5768,0,0,3,1111998,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43082564-G-C,17,43082564,rs876659552,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1399Thr,p.Thr1399Thr,c.4197C>G,synonymous_variant,Likely benign,232096,,1,628724,0.0000015905230275923935,0,0,,,9.62,,0.0100,0.0100,1.58,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53116,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43082568-T-A,17,43082568,rs761640584,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Val,p.Asp1398Val,c.4193A>T,missense_variant,Uncertain significance,1064293,,1,1461834,6.840721997162468e-7,0,0,,,27.2,0.576,0.0500,-0.0500,4.93,0.00,0.0380,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53392,0,0,0,5768,0,0,0,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43082568-T-C,17,43082568,rs761640584,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Gly,p.Asp1398Gly,c.4193A>G,missense_variant,Uncertain significance,216667,,2,1461834,0.0000013681443994324936,0,0,nfe,2.999999999999999e-7,27.3,0.536,0.0400,-0.100,4.93,0.0200,0.0710,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53392,0,0,0,5768,0,0,2,1111986,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43082569-C-T,17,43082569,rs876660331,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1398Asn,p.Asp1398Asn,c.4192G>A,missense_variant,Uncertain significance,650198,,1,628728,0.0000015905129086027663,0,0,,,23.9,0.385,0.00,0.0100,5.93,0.140,0.105,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53112,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69798,0,0,0,33094,0,0 +17-43082571-C-T,17,43082571,rs767421571,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1397Lys,p.Arg1397Lys,c.4190G>A,missense_variant,Uncertain significance,630120,,3,1461814,0.0000020522446768193492,0,0,nfe,2.999999999999999e-7,18.3,0.508,0.0700,0.0400,1.63,0.360,0.00600,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53384,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86258,0,0,1,60392,0,0 +17-43082572-T-C,17,43082572,rs886037792,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1397Gly,p.Arg1397Gly,c.4189A>G,missense_variant,Uncertain significance,1508878,,2,833094,0.0000024006894780180866,0,0,nfe,4.4e-7,26.9,0.594,0.00,0.0100,2.96,0.00,0.0710,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43082574-T-C,17,43082574,rs750344093,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1396Arg,p.Gln1396Arg,c.4187A>G,missense_variant,,,,1,628732,0.0000015905027897418932,0,0,,,30.0,0.637,0.0200,0.0300,6.36,0.00,0.0270,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53116,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43082574-T-G,17,43082574,rs750344093,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1396Pro,p.Gln1396Pro,c.4187A>C,missense_variant,,,,1,152192,0.000006570647603027754,0,0,,,31.0,0.712,0.0100,0.0100,6.36,,,1,41444,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43082575-G-T,17,43082575,rs80357011,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1396Lys,p.Gln1396Lys,c.4186C>A,missense_variant,Uncertain significance,182160,,2,152104,0.000013148898122337348,0,0,afr,0.00000801,29.6,0.666,0.0600,0.0300,8.79,0.00,0.0460,2,41402,0,0,0,15258,0,0,0,3472,0,0,0,5196,0,0,0,10600,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43082576-C-T,17,43082576,rs397509150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-1G>A,,c.4186-1G>A,splice_acceptor_variant,Uncertain significance,55134,lof_flag,1,833076,0.0000012003706744642745,0,0,,,33.0,,0.990,-0.850,8.90,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761876,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43082581-A-G,17,43082581,rs2053072541,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-6T>C,,c.4186-6T>C,splice_region_variant,Uncertain significance,1022148,,1,833060,0.000001200393729143159,0,0,,,10.9,,0.0100,-0.0200,0.788,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761864,0,0,,,,,0,16460,0,0,0,27290,0,0 +17-43082585-C-T,17,43082585,rs80358172,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-10G>A,,c.4186-10G>A,intron_variant,Conflicting interpretations of pathogenicity,55133,,152,1613860,0.00009418412997409936,1,0,sas,0.0011049999999999994,0.159,,0.0200,-0.0200,-0.620,,,2,75004,0,0,24,59996,0,0,0,29602,0,0,2,44876,0,0,0,63944,0,0,0,6060,0,0,4,1179884,0,0,0,912,0,0,118,91086,1,0,2,62496,0,0 +17-43082586-G-A,17,43082586,rs80358080,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-11C>T,,c.4186-11C>T,intron_variant,Likely benign,125695,,58,1613666,0.00003594300183557192,0,0,nfe,0.000005,2.01,,0.0600,0.0900,-0.137,,,0,74880,0,0,0,59980,0,0,0,29602,0,0,0,44892,0,0,44,63932,0,0,0,6082,0,0,11,1179838,0,0,0,908,0,0,1,91080,0,0,2,62472,0,0 +17-43082593-G-A,17,43082593,rs879255488,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-18C>T,,c.4186-18C>T,intron_variant,Likely benign,252879,,1,628546,0.000001590973453016963,0,0,,,4.33,,0.0300,0.0400,-0.604,,,0,17694,0,0,1,43736,0,0,0,20982,0,0,0,36064,0,0,0,52964,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69788,0,0,0,33092,0,0 +17-43082594-G-A,17,43082594,rs80358016,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-19C>T,,c.4186-19C>T,intron_variant,Likely benign,125697,,35,1613212,0.000021695846547137015,0,0,nfe,0.00002154,5.08,,0.0300,0.0400,0.905,,,0,74886,0,0,0,59976,0,0,0,29598,0,0,0,44888,0,0,0,63830,0,0,0,6082,0,0,35,1179504,0,0,0,912,0,0,0,91072,0,0,0,62464,0,0 +17-43082597-C-T,17,43082597,rs1326892404,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-22G>A,,c.4186-22G>A,intron_variant,,,,4,1460680,0.0000027384505846592,0,0,sas,0.000015830000000000003,6.65,,0.0200,0.0300,-0.104,,,0,33460,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53206,0,0,0,5766,0,0,0,1111130,0,0,,,,,4,86230,0,0,0,60370,0,0 +17-43082598-C-T,17,43082598,rs2053073440,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-23G>A,,c.4186-23G>A,intron_variant,,,,1,152008,0.000006578601126256513,0,0,,,10.1,,0.790,0.590,-0.107,,,1,41354,0,0,0,15262,0,0,0,3472,0,0,0,5196,0,0,0,10594,0,0,0,316,0,0,0,67996,0,0,0,912,0,0,0,4814,0,0,0,2092,0,0 +17-43082598-C-G,17,43082598,rs2053073440,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-23G>C,,c.4186-23G>C,intron_variant,,,,1,831822,0.0000012021802741451896,0,0,,,2.81,,0.00,-0.0200,-0.107,,,0,15768,0,0,0,982,0,0,0,5146,0,0,0,3626,0,0,0,276,0,0,0,1616,0,0,1,760698,0,0,,,,,0,16438,0,0,0,27272,0,0 +17-43082601-G-T,17,43082601,rs754508083,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-26C>A,,c.4186-26C>A,intron_variant,,,,13,1611694,0.000008066047276964485,0,0,nfe,0.00000616,7.55,,0.0200,0.0500,0.211,,,0,74850,0,0,0,59986,0,0,0,29590,0,0,0,44874,0,0,0,63712,0,0,0,6078,0,0,13,1178214,0,0,0,910,0,0,0,91056,0,0,0,62424,0,0 +17-43082601-GA-G,17,43082601,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-27del,,c.4186-27del,intron_variant,,,,1,1459564,6.851361091394417e-7,0,0,,,14.4,,0.0100,0.0200,0.211,,,0,33434,0,0,0,44706,0,0,0,26122,0,0,0,39676,0,0,0,53106,0,0,0,5762,0,0,1,1110198,0,0,,,,,0,86224,0,0,0,60336,0,0 +17-43082602-A-T,17,43082602,rs1295074204,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-27T>A,,c.4186-27T>A,intron_variant,,,,7,1611046,0.000004345003184266619,0,0,nfe,0.00000183,16.7,,0.0300,0.0300,1.58,,,1,74884,0,0,0,60004,0,0,0,29596,0,0,0,44886,0,0,0,63722,0,0,0,6080,0,0,6,1177530,0,0,0,912,0,0,0,91050,0,0,0,62382,0,0 +17-43082606-T-C,17,43082606,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-31A>G,,c.4186-31A>G,intron_variant,,,,1,827756,0.0000012080854744634892,0,0,,,15.5,,0.0100,-0.0400,1.27,,,0,15660,0,0,0,980,0,0,0,5130,0,0,0,3612,0,0,0,276,0,0,0,1610,0,0,0,757018,0,0,,,,,0,16352,0,0,1,27118,0,0 +17-43082607-G-T,17,43082607,rs778572131,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-32C>A,,c.4186-32C>A,intron_variant,,,,1,1455938,6.868424342245343e-7,0,0,,,5.91,,0.00,0.0200,-0.335,,,0,33360,0,0,0,44704,0,0,0,26110,0,0,0,39670,0,0,0,52870,0,0,0,5760,0,0,0,1107114,0,0,,,,,1,86152,0,0,0,60198,0,0 +17-43082607-G-A,17,43082607,rs778572131,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-32C>T,,c.4186-32C>T,intron_variant,,,,1,1455938,6.868424342245343e-7,0,0,,,6.61,,0.00,0.0100,-0.335,,,0,33360,0,0,0,44704,0,0,0,26110,0,0,0,39670,0,0,0,52870,0,0,0,5760,0,0,1,1107114,0,0,,,,,0,86152,0,0,0,60198,0,0 +17-43082616-T-C,17,43082616,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-41A>G,,c.4186-41A>G,intron_variant,,,,1,627708,0.0000015930974274662742,0,0,,,10.3,,0.100,0.110,0.0100,,,0,17692,0,0,0,43728,0,0,0,20980,0,0,0,36050,0,0,1,52228,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69784,0,0,0,33078,0,0 +17-43082616-T-G,17,43082616,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-41A>C,,c.4186-41A>C,intron_variant,,,,2,627708,0.0000031861948549325484,0,0,nfe,9.5e-7,10.1,,0.0600,0.0600,0.0100,,,0,17692,0,0,0,43728,0,0,0,20980,0,0,0,36050,0,0,0,52228,0,0,0,4148,0,0,2,350020,0,0,,,,,0,69784,0,0,0,33078,0,0 +17-43082622-G-A,17,43082622,rs1213347712,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-47C>T,,c.4186-47C>T,intron_variant,,,,5,1437082,0.000003479272581522836,0,0,nfe,0.00000134,9.29,,0.00,0.0100,1.28,,,0,32936,0,0,0,44650,0,0,0,25996,0,0,0,39554,0,0,0,51954,0,0,0,5728,0,0,5,1090966,0,0,,,,,0,85694,0,0,0,59604,0,0 +17-43082623-C-G,17,43082623,rs370884761,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-48G>C,,c.4186-48G>C,intron_variant,,,,49,1588630,0.000030844186500317886,0,0,nfe,2.9e-7,0.141,,0.0200,0.0100,-0.127,,,0,74360,0,0,0,59914,0,0,41,29458,0,0,0,44756,0,0,0,62506,0,0,0,6038,0,0,2,1158516,0,0,0,912,0,0,0,90502,0,0,6,61668,0,0 +17-43082623-C-CTTTCCATTAAATGAAAATTAAATGAAA,17,43082623,rs1567783737,C,CTTTCCATTAAATGAAAATTAAATGAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA,,c.4186-49_4186-48insTTTCATTTAATTTTCATTTAATGGAAA,intron_variant,,,,1,1436454,6.961587353301951e-7,0,0,,,0.564,,0.0100,0.0100,-0.127,,,0,32912,0,0,0,44652,0,0,0,25990,0,0,1,39554,0,0,0,51898,0,0,0,5722,0,0,0,1090476,0,0,,,,,0,85670,0,0,0,59580,0,0 +17-43082624-T-C,17,43082624,rs2154165869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-49A>G,,c.4186-49A>G,intron_variant,,,,5,626738,0.000007977815291238124,0,0,eas,0.0000092,3.83,,0.0300,0.0400,-0.201,,,0,17684,0,0,0,43708,0,0,0,20976,0,0,2,36028,0,0,0,51548,0,0,0,4138,0,0,3,349846,0,0,,,,,0,69744,0,0,0,33066,0,0 +17-43082626-T-C,17,43082626,rs771246729,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-51A>G,,c.4186-51A>G,intron_variant,,,,1,1431284,6.986733590258816e-7,0,0,,,6.45,,0.0100,-0.0100,1.36,,,0,32816,0,0,0,44612,0,0,0,25968,0,0,1,39514,0,0,0,51550,0,0,0,5702,0,0,0,1086198,0,0,,,,,0,85530,0,0,0,59394,0,0 +17-43082629-A-G,17,43082629,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-54T>C,,c.4186-54T>C,intron_variant,,,,1,625178,0.0000015995444497407139,0,0,,,10.5,,0.0100,0.0100,2.99,,,0,17630,0,0,0,43630,0,0,0,20968,0,0,0,35998,0,0,0,50678,0,0,0,4134,0,0,1,349488,0,0,,,,,0,69632,0,0,0,33020,0,0 +17-43082630-T-A,17,43082630,rs2053075361,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-55A>T,,c.4186-55A>T,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,1.21,,0.0100,0.0100,0.139,,,1,41452,0,0,0,15284,0,0,0,3466,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4838,0,0,0,2094,0,0 +17-43082633-A-C,17,43082633,rs2053075528,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-58T>G,,c.4186-58T>G,intron_variant,,,,19,1564748,0.000012142530298808499,0,0,nfe,0.00000791,8.05,,0.00,0.00,-0.247,,,2,73872,0,0,0,59752,0,0,0,29342,0,0,0,44594,0,0,0,61148,0,0,0,5988,0,0,15,1138446,0,0,0,912,0,0,0,89846,0,0,2,60848,0,0 +17-43082633-A-T,17,43082633,rs2053075528,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-58T>A,,c.4186-58T>A,intron_variant,,,,1,1412482,7.079736237346741e-7,0,0,,,7.92,,0.00,-0.0100,-0.247,,,0,32402,0,0,0,44464,0,0,0,25870,0,0,0,39388,0,0,0,50522,0,0,0,5672,0,0,1,1070402,0,0,,,,,0,85008,0,0,0,58754,0,0 +17-43082634-AT-A,17,43082634,rs1299697640,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-60del,,c.4186-60del,intron_variant,,,,10,1553090,0.000006438776889941987,0,0,amr,0.00007776999999999998,0.0170,,0.00,0.0400,-0.170,,,0,73594,0,0,9,59622,0,0,0,29266,0,0,0,44478,0,0,0,60674,0,0,0,5938,0,0,0,1128594,0,0,0,912,0,0,0,89546,0,0,1,60466,0,0 +17-43082636-G-A,17,43082636,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-61C>T,,c.4186-61C>T,intron_variant,,,,2,1401538,0.0000014270037630089231,0,0,nfe,3.1e-7,0.0990,,0.00,0.00,0.132,,,0,32178,0,0,0,44332,0,0,0,25796,0,0,0,39252,0,0,0,49948,0,0,0,5622,0,0,2,1061306,0,0,,,,,0,84688,0,0,0,58416,0,0 +17-43082637-A-T,17,43082637,rs1389781390,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-62T>A,,c.4186-62T>A,intron_variant,,,,3,1547508,0.0000019386006405136515,0,0,amr,0.00000558,7.34,,0.00,0.0100,1.31,,,1,73470,0,0,2,59506,0,0,0,29198,0,0,0,44402,0,0,0,60200,0,0,0,5930,0,0,0,1124290,0,0,0,912,0,0,0,89302,0,0,0,60298,0,0 +17-43082637-A-G,17,43082637,rs1389781390,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4186-62T>C,,c.4186-62T>C,intron_variant,,,,10,1547508,0.000006462002135045505,0,0,amr,0.00007889999999999998,7.67,,0.00,-0.0100,1.31,,,0,73470,0,0,9,59506,0,0,0,29198,0,0,0,44402,0,0,0,60200,0,0,0,5930,0,0,0,1124290,0,0,0,912,0,0,0,89302,0,0,1,60298,0,0 +17-43082638-A-G,17,43082638,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-63T>C,,c.4186-63T>C,intron_variant,,,,1,774588,0.0000012910088976333225,0,0,,,4.42,,0.00,0.00,2.60,,,0,14518,0,0,0,890,0,0,0,4826,0,0,0,3372,0,0,0,258,0,0,0,1512,0,0,1,708704,0,0,,,,,0,15182,0,0,0,25326,0,0 +17-43082641-T-C,17,43082641,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-66A>G,,c.4186-66A>G,intron_variant,,,,1,619350,0.000001614595947364172,0,0,,,7.18,,0.00,0.0100,0.197,,,0,17420,0,0,0,43118,0,0,0,20896,0,0,0,35720,0,0,1,48588,0,0,0,4076,0,0,0,347552,0,0,,,,,0,69110,0,0,0,32870,0,0 +17-43082642-A-G,17,43082642,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-67T>C,,c.4186-67T>C,intron_variant,,,,2,617612,0.000003238279048982209,0,0,,,8.63,,0.00,0.0100,0.761,,,0,17358,0,0,0,42948,0,0,0,20882,0,0,0,35630,0,0,0,48220,0,0,0,4064,0,0,1,346758,0,0,,,,,1,68936,0,0,0,32816,0,0 +17-43082643-T-A,17,43082643,rs1323178156,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-68A>T,,c.4186-68A>T,intron_variant,,,,1,761814,0.0000013126563701900988,0,0,,,7.56,,0.0300,0.0200,0.413,,,0,14212,0,0,0,878,0,0,0,4716,0,0,0,3294,0,0,0,242,0,0,0,1476,0,0,1,697178,0,0,,,,,0,14942,0,0,0,24876,0,0 +17-43082643-T-C,17,43082643,rs1323178156,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4186-68A>G,,c.4186-68A>G,intron_variant,,,,1,152218,0.000006569525286102826,0,0,,,7.88,,0.00,0.00,0.413,,,0,41460,0,0,0,15274,0,0,0,3468,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68048,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43082644-A-G,17,43082644,rs2053076308,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-69T>C,,c.4186-69T>C,intron_variant,,,,1,616072,0.0000016231869002324403,0,0,,,7.21,,0.00,0.00,0.559,,,0,17274,0,0,0,42802,0,0,0,20878,0,0,0,35552,0,0,0,47840,0,0,0,4034,0,0,1,346142,0,0,,,,,0,68788,0,0,0,32762,0,0 +17-43082648-T-C,17,43082648,rs1456051681,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-73A>G,,c.4186-73A>G,intron_variant,,,,1,1362848,7.337575430275423e-7,0,0,,,2.53,,0.00,0.00,-0.678,,,0,31062,0,0,0,43244,0,0,0,25516,0,0,0,38506,0,0,0,46992,0,0,0,5454,0,0,1,1031790,0,0,,,,,0,83150,0,0,0,57134,0,0 +17-43082650-C-G,17,43082650,rs2053076593,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-75G>C,,c.4186-75G>C,intron_variant,,,,2,1360630,0.0000014699073223433262,0,0,sas,0.000004,0.683,,0.00,0.00,-0.0170,,,0,30998,0,0,0,43052,0,0,0,25490,0,0,0,38410,0,0,0,46642,0,0,0,5436,0,0,0,1030446,0,0,,,,,2,83056,0,0,0,57100,0,0 +17-43082650-C-T,17,43082650,rs2053076593,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4186-75G>A,,c.4186-75G>A,intron_variant,,,,1,1360630,7.349536611716631e-7,0,0,,,0.819,,0.00,0.00,-0.0170,,,0,30998,0,0,0,43052,0,0,0,25490,0,0,0,38410,0,0,0,46642,0,0,0,5436,0,0,1,1030446,0,0,,,,,0,83056,0,0,0,57100,0,0 +17-43090869-A-C,17,43090869,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+75T>G,,c.4185+75T>G,intron_variant,,,,1,563724,0.000001773917732791224,0,0,,,9.41,,0.00,0.00,2.42,,,0,16108,0,0,0,35206,0,0,0,20086,0,0,0,32758,0,0,0,42412,0,0,0,4074,0,0,0,318824,0,0,,,,,1,63372,0,0,0,30884,0,0 +17-43090870-G-A,17,43090870,rs2154248208,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+74C>T,,c.4185+74C>T,intron_variant,,,,2,1352186,0.0000014790864570406733,0,0,,,3.08,,0.00,0.00,0.589,,,0,69272,0,0,0,51294,0,0,0,27484,0,0,1,40688,0,0,0,53342,0,0,0,5634,0,0,1,969080,0,0,0,912,0,0,0,80690,0,0,0,53790,0,0 +17-43090871-AATGT-A,17,43090871,,AATGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+69_4185+72del,,c.4185+69_4185+72del,intron_variant,,,,2,1197098,0.000001670706993078261,0,0,,,7.10,,0.00,0.00,-0.165,,,0,27772,0,0,0,36088,0,0,0,23970,0,0,0,35566,0,0,0,43110,0,0,0,5322,0,0,1,897776,0,0,,,,,0,75894,0,0,1,51600,0,0 +17-43090873-T-G,17,43090873,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+71A>C,,c.4185+71A>C,intron_variant,,,,1,646732,0.0000015462355349665703,0,0,,,3.15,,0.00,0.00,-2.18,,,0,11906,0,0,0,782,0,0,0,3988,0,0,0,2752,0,0,0,218,0,0,0,1268,0,0,1,591928,0,0,,,,,0,12698,0,0,0,21192,0,0 +17-43090874-G-A,17,43090874,rs997416809,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+70C>T,,c.4185+70C>T,intron_variant,,,,2,1218564,0.0000016412761250127199,0,0,amr,0.00000914,3.06,,0.00,0.00,0.462,,,0,28240,0,0,2,36260,0,0,0,24154,0,0,0,35768,0,0,0,43764,0,0,0,5358,0,0,0,916320,0,0,,,,,0,76446,0,0,0,52254,0,0 +17-43090875-T-C,17,43090875,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+69A>G,,c.4185+69A>G,intron_variant,,,,1,567404,0.00000176241267245208,0,0,,,0.441,,0.00,0.00,-3.27,,,0,16244,0,0,0,35528,0,0,0,20122,0,0,0,33074,0,0,0,43816,0,0,0,4078,0,0,1,319900,0,0,,,,,0,63676,0,0,0,30966,0,0 +17-43090878-G-A,17,43090878,rs1263850734,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+66C>T,,c.4185+66C>T,intron_variant,,,,6,1229262,0.00000488097736690795,0,0,eas,0.000037849999999999985,2.59,,0.00,0.00,-0.00400,,,0,28544,0,0,0,36520,0,0,0,24228,0,0,4,36048,0,0,0,44522,0,0,0,5386,0,0,0,924626,0,0,,,,,1,76804,0,0,1,52584,0,0 +17-43090878-G-T,17,43090878,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+66C>A,,c.4185+66C>A,intron_variant,,,,1,1229260,8.134975513723703e-7,0,0,,,2.11,,0.00,0.00,-0.00400,,,0,28544,0,0,0,36520,0,0,0,24228,0,0,0,36048,0,0,0,44522,0,0,0,5386,0,0,1,924624,0,0,,,,,0,76804,0,0,0,52584,0,0 +17-43090883-A-G,17,43090883,rs2154248465,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+61T>C,,c.4185+61T>C,intron_variant,,,,16,703194,0.000022753322696154974,0,0,nfe,0.00001471,7.41,,0.00,0.00,-0.0470,,,0,13016,0,0,0,842,0,0,0,4398,0,0,0,2986,0,0,0,232,0,0,0,1390,0,0,16,643444,0,0,,,,,0,13892,0,0,0,22994,0,0 +17-43090886-C-T,17,43090886,rs1027122868,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+58G>A,,c.4185+58G>A,intron_variant,,,,2,1296004,0.0000015432051135644644,0,0,,,0.0230,,0.00,0.00,-1.98,,,0,29950,0,0,0,37390,0,0,0,24704,0,0,0,36882,0,0,0,46314,0,0,0,5486,0,0,1,981906,0,0,,,,,1,78576,0,0,0,54796,0,0 +17-43090888-A-G,17,43090888,rs2154248808,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+56T>C,,c.4185+56T>C,intron_variant,,,,1,577794,0.0000017307206374590252,0,0,,,9.69,,0.00,-0.0100,1.50,,,1,16654,0,0,0,36780,0,0,0,20212,0,0,0,33962,0,0,0,46476,0,0,0,4088,0,0,0,323820,0,0,,,,,0,64556,0,0,0,31246,0,0 +17-43090889-C-T,17,43090889,rs2154248837,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+55G>A,,c.4185+55G>A,intron_variant,,,,3,1317606,0.0000022768566627656524,0,0,nfe,3.3e-7,2.21,,0.00,0.0100,1.34,,,0,30482,0,0,0,37772,0,0,0,24820,0,0,0,37206,0,0,0,46846,0,0,0,5520,0,0,2,1000286,0,0,,,,,0,79204,0,0,1,55470,0,0 +17-43090889-C-A,17,43090889,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+55G>T,,c.4185+55G>T,intron_variant,,,,3,1317606,0.0000022768566627656524,0,0,sas,0.00001006,1.55,,0.00,0.00,1.34,,,0,30482,0,0,0,37772,0,0,0,24820,0,0,0,37206,0,0,0,46846,0,0,0,5520,0,0,0,1000286,0,0,,,,,3,79204,0,0,0,55470,0,0 +17-43090890-T-C,17,43090890,rs1290819225,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+54A>G,,c.4185+54A>G,intron_variant,,,,2,152146,0.000013145268360653583,0,0,afr,0.000008,6.76,,0.00,0.00,-0.00700,,,2,41438,0,0,0,15260,0,0,0,3472,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4824,0,0,0,2090,0,0 +17-43090891-G-A,17,43090891,rs2154248904,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+53C>T,,c.4185+53C>T,intron_variant,,,,2,1325890,0.0000015084207588864839,0,0,nfe,3.3e-7,1.17,,0.00,0.00,0.229,,,0,30662,0,0,0,38010,0,0,0,24882,0,0,0,37416,0,0,0,47186,0,0,0,5528,0,0,2,1006992,0,0,,,,,0,79424,0,0,0,55790,0,0 +17-43090895-G-C,17,43090895,rs2154248998,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+49C>G,,c.4185+49C>G,intron_variant,,,,1,1350882,7.4025710609809e-7,0,0,,,3.77,,0.00,0.00,0.945,,,0,31222,0,0,0,38502,0,0,0,25000,0,0,0,37794,0,0,0,47776,0,0,0,5576,0,0,1,1028116,0,0,,,,,0,80282,0,0,0,56614,0,0 +17-43090897-A-G,17,43090897,rs1408554738,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+47T>C,,c.4185+47T>C,intron_variant,Uncertain significance,1345035,,3,739336,0.000004057695012822316,0,0,nfe,0.00000202,9.83,,0.00,0.0100,1.13,,,0,58438,0,0,0,53326,0,0,0,23768,0,0,0,39910,0,0,0,58748,0,0,0,4416,0,0,3,395948,0,0,0,910,0,0,0,70240,0,0,0,33632,0,0 +17-43090900-G-T,17,43090900,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+44C>A,,c.4185+44C>A,intron_variant,,,,1,588864,0.0000016981849798934899,0,0,,,7.63,,0.00,0.00,1.40,,,0,17032,0,0,0,38346,0,0,0,20306,0,0,0,34842,0,0,1,48434,0,0,0,4090,0,0,0,328684,0,0,,,,,0,65542,0,0,0,31588,0,0 +17-43090904-A-C,17,43090904,rs781561618,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+40T>G,,c.4185+40T>G,intron_variant,Likely benign,811556,,23,1391760,0.00001652583778812439,1,0,amr,0.0003509900000000001,7.47,,0.00,0.00,0.118,,,0,32214,0,0,21,40090,1,0,0,25286,0,0,0,38528,0,0,0,49516,0,0,0,5658,0,0,1,1060808,0,0,,,,,0,81764,0,0,1,57896,0,0 +17-43090905-CCACACACACGCATGTGCACA-C,17,43090905,rs1597857767,CCACACACACGCATGTGCACA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19_4185+38del,,c.4185+19_4185+38del,intron_variant,Likely benign,704735,,1,1397458,7.155850122150362e-7,0,0,,,5.90,,0.0100,0.0100,-0.156,,,0,32368,0,0,0,40194,0,0,0,25330,0,0,0,38564,0,0,0,49562,0,0,0,5666,0,0,1,1065744,0,0,,,,,0,81946,0,0,0,58084,0,0 +17-43090905-C-G,17,43090905,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+39G>C,,c.4185+39G>C,intron_variant,,,,1,1397460,7.155839880926825e-7,0,0,,,5.34,,0.00,0.00,-0.156,,,0,32368,0,0,0,40194,0,0,0,25330,0,0,0,38564,0,0,0,49564,0,0,0,5666,0,0,0,1065744,0,0,,,,,0,81946,0,0,1,58084,0,0 +17-43090905-CCACACACACGCATGTGCA-C,17,43090905,rs768092833,CCACACACACGCATGTGCA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21_4185+38del,,c.4185+21_4185+38del,intron_variant,Likely benign,491069,,8,1549540,0.000005162822515068988,0,0,nfe,0.0000019000000000000002,6.12,,0.00,0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,0,43754,0,0,1,60164,0,0,0,5982,0,0,6,1133776,0,0,0,910,0,0,1,86760,0,0,0,60172,0,0 +17-43090905-CCA-C,17,43090905,rs760098710,CCA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+37_4185+38del,,c.4185+37_4185+38del,intron_variant,Conflicting interpretations of pathogenicity,873428,,251,1549540,0.00016198355641028952,0,0,nfe,0.00018891,4.26,,0.00,0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,1,43754,0,0,0,60164,0,0,0,5982,0,0,240,1133776,0,0,0,910,0,0,0,86760,0,0,10,60172,0,0 +17-43090905-C-CCACACACACGCATGTG,17,43090905,rs1350338513,C,CCACACACACGCATGTG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+23_4185+38dup,,c.4185+23_4185+38dup,intron_variant,,,,3,1549540,0.0000019360584431508707,0,0,nfe,6.999999999999999e-7,3.04,,0.00,-0.0100,-0.156,,,0,73766,0,0,0,55454,0,0,0,28802,0,0,0,43754,0,0,0,60164,0,0,0,5982,0,0,3,1133776,0,0,0,910,0,0,0,86760,0,0,0,60172,0,0 +17-43090906-C-G,17,43090906,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+38G>C,,c.4185+38G>C,intron_variant,,,,1,1399752,7.144122673159246e-7,0,0,,,1.83,,0.00,0.00,0.00900,,,0,32382,0,0,0,40488,0,0,0,25374,0,0,0,38646,0,0,0,49706,0,0,0,5676,0,0,1,1067138,0,0,,,,,0,82186,0,0,0,58156,0,0 +17-43090909-A-G,17,43090909,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+35T>C,,c.4185+35T>C,intron_variant,,,,2,600196,0.0000033322448000319894,0,0,nfe,0.000001,7.36,,0.00,0.00,1.37,,,0,17302,0,0,0,40122,0,0,0,20412,0,0,0,35360,0,0,0,49956,0,0,0,4106,0,0,2,334326,0,0,,,,,0,66618,0,0,0,31994,0,0 +17-43090910-C-G,17,43090910,rs1004447600,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+34G>C,,c.4185+34G>C,intron_variant,,,,1,1410968,7.087332951562332e-7,0,0,,,4.54,,0.00,0.00,-0.790,,,0,32654,0,0,0,41182,0,0,0,25474,0,0,0,38898,0,0,0,50262,0,0,0,5708,0,0,1,1075568,0,0,,,,,0,82656,0,0,0,58566,0,0 +17-43090910-C-T,17,43090910,rs1004447600,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+34G>A,,c.4185+34G>A,intron_variant,Likely benign,2576275,,8,1563106,0.000005118015029051133,0,0,amr,0.00000587,4.86,,0.00,0.00,-0.790,,,2,74080,0,0,2,56462,0,0,0,28940,0,0,0,44096,0,0,0,60872,0,0,0,6024,0,0,3,1143582,0,0,0,912,0,0,0,87484,0,0,1,60654,0,0 +17-43090912-C-G,17,43090912,rs1207412157,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+32G>C,,c.4185+32G>C,intron_variant,,,,2,152122,0.000013147342264761178,0,0,afr,0.000008,0.799,,0.00,0.00,0.346,,,2,41406,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4822,0,0,0,2086,0,0 +17-43090913-ACG-A,17,43090913,,ACG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+29_4185+30del,,c.4185+29_4185+30del,intron_variant,,,,1,604140,0.0000016552454729036315,0,0,,,0.179,,0.00,0.0100,-0.0120,,,0,17382,0,0,0,40748,0,0,0,20442,0,0,0,35534,0,0,0,50422,0,0,0,4112,0,0,0,336382,0,0,,,,,0,66982,0,0,1,32136,0,0 +17-43090914-C-T,17,43090914,rs80358139,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+30G>A,,c.4185+30G>A,intron_variant,Likely benign,125691,,64,1567194,0.00004083731816226964,1,0,sas,0.00017895999999999998,0.383,,0.00,0.00,-3.42,,,12,74218,0,0,3,57058,0,0,17,28972,0,0,0,44238,0,0,0,61318,0,0,0,5988,0,0,7,1145858,0,0,0,912,0,0,23,87790,1,0,2,60842,0,0 +17-43090915-G-C,17,43090915,rs273900726,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+29C>G,,c.4185+29C>G,intron_variant,,,,2,1573452,0.0000012710905702874954,0,0,,,0.203,,0.00,0.00,0.164,,,2,74232,0,0,0,57146,0,0,0,28984,0,0,0,44266,0,0,0,61332,0,0,0,6024,0,0,0,1151494,0,0,0,912,0,0,0,88044,0,0,0,61018,0,0 +17-43090915-G-A,17,43090915,rs273900726,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+29C>T,,c.4185+29C>T,intron_variant,Uncertain significance,125689,,58,1573452,0.000036861626538337364,0,0,amr,0.00016100999999999998,0.243,,0.00,0.00,0.164,,,1,74232,0,0,15,57146,0,0,0,28984,0,0,0,44266,0,0,0,61332,0,0,3,6024,0,0,36,1151494,0,0,0,912,0,0,0,88044,0,0,3,61018,0,0 +17-43090918-T-G,17,43090918,rs775926635,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+26A>C,,c.4185+26A>C,intron_variant,,,,2,1432392,0.0000013962658266731453,0,0,nfe,2.999999999999999e-7,0.100,,0.00,0.00,-1.19,,,0,33028,0,0,0,42394,0,0,0,25586,0,0,0,39284,0,0,0,51332,0,0,0,5728,0,0,2,1092092,0,0,,,,,0,83616,0,0,0,59332,0,0 +17-43090919-G-A,17,43090919,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+25C>T,,c.4185+25C>T,intron_variant,,,,1,1431266,6.986821457367115e-7,0,0,,,0.158,,0.00,0.00,-0.743,,,0,32994,0,0,0,42382,0,0,0,25600,0,0,0,39270,0,0,0,51308,0,0,0,5720,0,0,1,1091098,0,0,,,,,0,83596,0,0,0,59298,0,0 +17-43090920-T-G,17,43090920,rs763074389,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+24A>C,,c.4185+24A>C,intron_variant,Likely benign,491070,,21,1587706,0.000013226630119178235,0,0,nfe,0.00000968,0.344,,0.00,0.00,-0.768,,,1,74492,0,0,0,57906,0,0,0,29084,0,0,0,44542,0,0,0,62150,0,0,0,6048,0,0,18,1162376,0,0,0,912,0,0,0,88656,0,0,2,61540,0,0 +17-43090920-T-C,17,43090920,rs763074389,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+24A>G,,c.4185+24A>G,intron_variant,Likely benign,439445,,20,1435552,0.000013931923051202604,0,0,sas,0.00015733999999999998,0.405,,0.00,0.00,-0.768,,,0,33056,0,0,0,42634,0,0,0,25614,0,0,0,39344,0,0,0,51538,0,0,0,5732,0,0,0,1094354,0,0,,,,,20,83828,0,0,0,59452,0,0 +17-43090921-GCACA-G,17,43090921,rs273900723,GCACA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19_4185+22del,,c.4185+19_4185+22del,intron_variant,Likely benign,754961,,1,1430320,6.99144247441132e-7,0,0,,,1.60,,0.00,0.0100,-1.91,,,0,32946,0,0,0,42610,0,0,0,25596,0,0,0,39290,0,0,0,51258,0,0,0,5720,0,0,0,1089826,0,0,,,,,1,83758,0,0,0,59316,0,0 +17-43090921-GCA-G,17,43090921,rs273900723,GCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+21_4185+22del,,c.4185+21_4185+22del,intron_variant,Benign/Likely benign,125686,,354,1425062,0.0002484102446069013,0,0,amr,0.00037355000000000016,1.84,,0.00,0.0100,-1.91,,,3,32834,0,0,30,42440,0,0,2,25524,0,0,10,39078,0,0,34,50978,0,0,2,5706,0,0,234,1085814,0,0,,,,,23,83566,0,0,16,59122,0,0 +17-43090921-G-GCA,17,43090921,rs273900723,G,GCA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21_4185+22dup,,c.4185+21_4185+22dup,intron_variant,Conflicting interpretations of pathogenicity,371824,,77,1581826,0.00004867792032752022,1,0,sas,0.00007803999999999998,0.241,,0.00,0.0100,-1.91,,,2,74306,0,0,1,57844,0,0,0,29064,0,0,0,44474,0,0,1,61804,0,0,2,6036,0,0,57,1157420,0,0,0,910,0,0,12,88576,0,0,2,61392,1,0 +17-43090923-A-G,17,43090923,rs1192950184,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+21T>C,,c.4185+21T>C,intron_variant,Likely benign,631071,,5,1520640,0.0000032880892255892254,0,0,nfe,8.500000000000001e-7,5.71,,0.00,-0.0100,0.218,,,1,73034,0,0,0,56110,0,0,0,28536,0,0,0,42944,0,0,0,59250,0,0,0,5904,0,0,4,1108292,0,0,0,910,0,0,0,86408,0,0,0,59252,0,0 +17-43090925-A-G,17,43090925,rs2154249642,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+19T>C,,c.4185+19T>C,intron_variant,Likely benign,2089457,,1,827326,0.0000012087133729630159,0,0,,,5.42,,0.0100,0.00,0.218,,,0,15672,0,0,0,980,0,0,0,5126,0,0,0,3610,0,0,0,268,0,0,0,1610,0,0,1,756576,0,0,,,,,0,16360,0,0,0,27124,0,0 +17-43090926-C-T,17,43090926,rs1388759085,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+18G>A,,c.4185+18G>A,intron_variant,Likely benign,628265,,1,1445300,6.918978758735211e-7,0,0,,,0.0440,,0.00,0.00,0.272,,,0,33254,0,0,1,43338,0,0,0,25712,0,0,0,39500,0,0,0,52024,0,0,0,5736,0,0,0,1101576,0,0,,,,,0,84370,0,0,0,59790,0,0 +17-43090928-C-G,17,43090928,rs774646943,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+16G>C,,c.4185+16G>C,intron_variant,Conflicting interpretations of pathogenicity,415557,,1,152200,0.00000657030223390276,0,0,,,8.32,,0.00,0.00,0.166,,,0,41450,0,0,1,15282,0,0,0,3470,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43090928-C-A,17,43090928,rs774646943,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+16G>T,,c.4185+16G>T,intron_variant,Likely benign,2153625,,1,1447356,6.909150202161735e-7,0,0,,,8.13,,0.00,0.00,0.166,,,0,33284,0,0,0,43442,0,0,1,25728,0,0,0,39536,0,0,0,52144,0,0,0,5740,0,0,0,1103120,0,0,,,,,0,84504,0,0,0,59858,0,0 +17-43090928-C-T,17,43090928,rs774646943,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4185+16G>A,,c.4185+16G>A,intron_variant,Likely benign,509366,,1,152200,0.00000657030223390276,0,0,,,8.75,,0.0100,0.00,0.166,,,0,41450,0,0,0,15282,0,0,0,3470,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43090929-A-G,17,43090929,rs1173950890,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+15T>C,,c.4185+15T>C,intron_variant,,,,2,617822,0.000003237178345866609,0,0,,,7.16,,0.00,0.0100,-0.548,,,0,17578,0,0,0,42546,0,0,0,20612,0,0,0,35934,0,0,0,51960,0,0,0,4130,0,0,1,344266,0,0,,,,,1,68126,0,0,0,32670,0,0 +17-43090930-C-T,17,43090930,rs762153716,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+14G>A,,c.4185+14G>A,intron_variant,Likely benign,1095622,,2,618138,0.0000032355234591628407,0,0,,,0.409,,0.00,0.0100,0.00800,,,0,17578,0,0,0,42592,0,0,0,20620,0,0,0,35926,0,0,2,51972,0,0,0,4132,0,0,0,344454,0,0,,,,,0,68180,0,0,0,32684,0,0 +17-43090930-C-G,17,43090930,rs762153716,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+14G>C,,c.4185+14G>C,intron_variant,Benign/Likely benign,188411,,5,618138,0.000008088808647907102,0,0,nfe,0.00000525,0.332,,0.00,0.00,0.00800,,,0,17578,0,0,0,42592,0,0,0,20620,0,0,0,35926,0,0,0,51972,0,0,0,4132,0,0,5,344454,0,0,,,,,0,68180,0,0,0,32684,0,0 +17-43090931-A-G,17,43090931,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+13T>C,,c.4185+13T>C,intron_variant,,,,1,618748,0.0000016161668401352407,0,0,,,5.55,,0.00,0.0100,-0.801,,,0,17590,0,0,0,42638,0,0,0,20624,0,0,0,35956,0,0,0,52058,0,0,0,4130,0,0,0,344802,0,0,,,,,1,68232,0,0,0,32718,0,0 +17-43090932-C-T,17,43090932,rs1453378073,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+12G>A,,c.4185+12G>A,intron_variant,Likely benign,531503,,1,1451438,6.889719023478785e-7,0,0,,,0.785,,0.0300,0.0100,-1.82,,,0,33356,0,0,0,43676,0,0,0,25782,0,0,0,39578,0,0,0,52332,0,0,0,5748,0,0,0,1106248,0,0,,,,,0,84712,0,0,1,60006,0,0 +17-43090933-A-G,17,43090933,rs2154249843,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+11T>C,,c.4185+11T>C,intron_variant,Likely benign,1158682,,1,1451542,6.889225389275681e-7,0,0,,,0.329,,0.00,0.00,-0.948,,,0,33350,0,0,0,43714,0,0,0,25782,0,0,0,39584,0,0,0,52374,0,0,0,5746,0,0,1,1106258,0,0,,,,,0,84710,0,0,0,60024,0,0 +17-43090934-C-G,17,43090934,rs80358104,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+10G>C,,c.4185+10G>C,intron_variant,Benign,125685,,36,1603480,0.00002245116870805997,0,0,nfe,0.00002005,0.0130,,0.00,0.00,-1.48,,,2,74808,0,0,0,59030,0,0,0,29262,0,0,0,44784,0,0,0,63004,0,0,0,6060,0,0,33,1173956,0,0,0,912,0,0,0,89570,0,0,1,62094,0,0 +17-43090934-C-T,17,43090934,rs80358104,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+10G>A,,c.4185+10G>A,intron_variant,Conflicting interpretations of pathogenicity,96927,,33,1603478,0.000020580263651886713,0,0,nfe,0.000014619999999999999,0.0270,,0.00,0.00,-1.48,,,2,74808,0,0,0,59030,0,0,0,29262,0,0,1,44784,0,0,1,63004,0,0,1,6060,0,0,25,1173954,0,0,0,912,0,0,1,89570,0,0,2,62094,0,0 +17-43090935-G-A,17,43090935,rs80358034,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4185+9C>T,,c.4185+9C>T,intron_variant,Benign/Likely benign,96929,,20,1604074,0.000012468252711533259,0,0,sas,0.000029020000000000003,3.20,,0.00,0.0100,1.34,,,2,74880,0,0,0,59032,0,0,0,29268,0,0,1,44772,0,0,0,62962,0,0,1,6042,0,0,9,1174460,0,0,0,912,0,0,6,89588,0,0,1,62158,0,0 +17-43090939-T-C,17,43090939,rs766330646,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4185+5A>G,,c.4185+5A>G,intron_variant,Conflicting interpretations of pathogenicity,462638,,2,621860,0.0000032161579776798635,0,0,,,8.33,,0.00,-0.0400,0.0890,,,0,17626,0,0,0,42972,0,0,0,20692,0,0,0,36006,0,0,0,52428,0,0,0,4130,0,0,0,346634,0,0,,,,,1,68532,0,0,1,32840,0,0 +17-43090944-C-T,17,43090944,rs80356857,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Gln,p.Gln1395Gln,c.4185G>A,splice_region_variant,Pathogenic,55131,,2,1456040,0.0000013735886376747893,0,0,nfe,2.999999999999999e-7,25.4,,0.930,-0.760,8.87,,,0,33424,0,0,0,44072,0,0,0,25866,0,0,0,39646,0,0,0,52834,0,0,0,5756,0,0,2,1109110,0,0,,,,,0,85144,0,0,0,60188,0,0 +17-43090945-T-C,17,43090945,rs80356972,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Arg,p.Gln1395Arg,c.4184A>G,missense_variant,Conflicting interpretations of pathogenicity,55127,,2,623366,0.0000032083880096123304,0,0,nfe,9.6e-7,33.0,0.652,0.360,-0.330,6.33,0.00,0.00600,0,17646,0,0,0,43126,0,0,0,20716,0,0,0,36040,0,0,0,52604,0,0,0,4138,0,0,2,347478,0,0,,,,,0,68716,0,0,0,32902,0,0 +17-43090946-G-A,17,43090946,rs80357260,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Ter,p.Gln1395Ter,c.4183C>T,stop_gained,Pathogenic,55125,,2,1456324,0.0000013733207720260052,0,0,,,50.0,,0.230,-0.310,8.76,,,0,33426,0,0,0,44136,0,0,0,25874,0,0,0,39660,0,0,0,52830,0,0,0,5758,0,0,1,1109274,0,0,,,,,1,85184,0,0,0,60182,0,0 +17-43090946-G-C,17,43090946,rs80357260,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1395Glu,p.Gln1395Glu,c.4183C>G,missense_variant,Uncertain significance,1513251,,1,1456324,6.866603860130026e-7,0,0,,,29.8,0.558,0.0100,-0.0400,8.76,0.00,0.0710,0,33426,0,0,0,44136,0,0,0,25874,0,0,0,39660,0,0,0,52830,0,0,0,5758,0,0,1,1109274,0,0,,,,,0,85184,0,0,0,60182,0,0 +17-43090948-G-A,17,43090948,rs397507226,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1394Ile,p.Thr1394Ile,c.4181C>T,missense_variant,Conflicting interpretations of pathogenicity,37573,,2,985172,0.0000020301023577608785,0,0,,,24.0,0.565,0.00,0.00,6.96,0.00,0.297,2,57232,0,0,0,16256,0,0,0,8622,0,0,0,8828,0,0,0,10890,0,0,0,1936,0,0,0,829822,0,0,0,912,0,0,0,21290,0,0,0,29384,0,0 +17-43090950-G-C,17,43090950,rs753735698,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Thr,p.Thr1393Thr,c.4179C>G,synonymous_variant,Likely benign,427298,,2,624324,0.000003203464867600797,0,0,eas,0.0000092,8.94,,0.00,-0.0100,0.598,,,0,17652,0,0,0,43222,0,0,0,20742,0,0,2,36028,0,0,0,52668,0,0,0,4142,0,0,0,348064,0,0,,,,,0,68878,0,0,0,32928,0,0 +17-43090950-G-A,17,43090950,rs753735698,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Thr,p.Thr1393Thr,c.4179C>T,synonymous_variant,Likely benign,230701,,2,624324,0.000003203464867600797,0,0,amr,0.00000767,9.37,,0.00,0.00,0.598,,,0,17652,0,0,2,43222,0,0,0,20742,0,0,0,36028,0,0,0,52668,0,0,0,4142,0,0,0,348064,0,0,,,,,0,68878,0,0,0,32928,0,0 +17-43090952-T-G,17,43090952,rs587782870,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1393Pro,p.Thr1393Pro,c.4177A>C,missense_variant,,,,1,624786,0.0000016005480276446656,0,0,,,26.7,0.547,0.00,0.00,3.67,0.00,0.355,0,17666,0,0,0,43260,0,0,0,20754,0,0,0,36046,0,0,0,52734,0,0,0,4144,0,0,1,348288,0,0,,,,,0,68942,0,0,0,32952,0,0 +17-43090954-A-G,17,43090954,rs778319854,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1392Ser,p.Leu1392Ser,c.4175T>C,missense_variant,Uncertain significance,578485,,5,1458224,0.0000034288284927418557,0,0,nfe,8.4e-7,27.8,0.676,0.00,-0.0200,6.31,0.00,0.0840,0,33444,0,0,0,44280,0,0,0,25924,0,0,0,39676,0,0,0,53024,0,0,0,5764,0,0,4,1110378,0,0,,,,,1,85478,0,0,0,60256,0,0 +17-43090957-A-G,17,43090957,rs397509146,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1391Thr,p.Ile1391Thr,c.4172T>C,missense_variant,Uncertain significance,55123,,2,1458710,0.0000013710744424868548,0,0,nfe,2.999999999999999e-7,26.1,0.697,0.00,0.00,6.31,0.00,0.00600,0,33446,0,0,0,44316,0,0,0,25944,0,0,0,39684,0,0,0,53104,0,0,0,5764,0,0,2,1110618,0,0,,,,,0,85562,0,0,0,60272,0,0 +17-43090959-G-A,17,43090959,rs1231201665,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1390Asp,p.Asp1390Asp,c.4170C>T,synonymous_variant,Likely benign,1159537,,7,777940,0.000008998123248579581,0,0,,,3.37,,0.0200,-0.0200,-0.663,,,0,59120,0,0,0,58634,0,0,0,24270,0,0,0,41250,0,0,6,63436,0,0,0,4460,0,0,1,416824,0,0,0,912,0,0,0,73964,0,0,0,35070,0,0 +17-43090960-T-C,17,43090960,rs1165149350,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1390Gly,p.Asp1390Gly,c.4169A>G,missense_variant,Uncertain significance,496377,,1,152204,0.000006570129562954982,0,0,,,19.4,0.535,0.0100,-0.0100,0.852,0.0300,0.0100,0,41456,0,0,1,15280,0,0,0,3470,0,0,0,5196,0,0,0,10622,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 +17-43090961-C-T,17,43090961,rs752300203,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1390Asn,p.Asp1390Asn,c.4168G>A,missense_variant,Uncertain significance,462635,,2,626000,0.000003194888178913738,0,0,,,23.0,0.335,0.0200,-0.0200,5.64,0.0100,0.0150,0,17670,0,0,0,43364,0,0,0,20810,0,0,0,36056,0,0,0,52848,0,0,0,4144,0,0,0,348940,0,0,,,,,1,69186,0,0,1,32982,0,0 +17-43090961-C-A,17,43090961,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1390Tyr,p.Asp1390Tyr,c.4168G>T,missense_variant,,,,1,626000,0.000001597444089456869,0,0,,,24.2,0.558,0.0200,-0.0300,5.64,0.00,0.119,0,17670,0,0,0,43364,0,0,0,20810,0,0,0,36056,0,0,0,52848,0,0,0,4144,0,0,0,348940,0,0,,,,,1,69186,0,0,0,32982,0,0 +17-43090962-ACT-A,17,43090962,rs80357572,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1389Ter,p.Ser1389Ter,c.4165_4166del,frameshift_variant,Pathogenic,55117,,7,1459312,0.000004796780948830682,0,0,sas,0.0000093,33.0,,0.00,0.0100,-1.99,,,0,33462,0,0,0,44368,0,0,0,25970,0,0,0,39686,0,0,0,53144,0,0,0,5764,0,0,4,1110942,0,0,,,,,3,85686,0,0,0,60290,0,0 +17-43090963-C-T,17,43090963,rs78951648,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1389Asn,p.Ser1389Asn,c.4166G>A,missense_variant,Conflicting interpretations of pathogenicity,55119,,9,1611696,0.000005584179646782023,0,0,eas,0.00008834999999999997,22.7,0.468,0.00,-0.0100,2.96,0.00,0.0530,0,75030,0,0,0,59686,0,0,0,29442,0,0,8,44876,0,0,0,63780,0,0,0,6058,0,0,0,1178976,0,0,0,912,0,0,0,90534,0,0,1,62402,0,0 +17-43090966-T-C,17,43090966,rs1246721860,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1388Arg,p.Gln1388Arg,c.4163A>G,missense_variant,Uncertain significance,1020675,,7,1459724,0.000004795427080735811,0,0,nfe,0.0000026200000000000003,25.1,0.679,0.00,-0.0200,6.29,0.00,0.00100,0,33468,0,0,0,44412,0,0,0,25994,0,0,0,39690,0,0,0,53182,0,0,0,5766,0,0,7,1111144,0,0,,,,,0,85772,0,0,0,60296,0,0 +17-43090968-A-G,17,43090968,rs1410595461,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1387Ser,p.Ser1387Ser,c.4161T>C,synonymous_variant,,,,1,152230,0.000006569007422978388,0,0,,,7.02,,0.00,0.00,-0.765,,,0,41466,0,0,0,15282,0,0,0,3470,0,0,0,5196,0,0,0,10626,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43090970-A-G,17,43090970,rs876658221,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1387Pro,p.Ser1387Pro,c.4159T>C,missense_variant,Conflicting interpretations of pathogenicity,224433,,2,626916,0.000003190220061379834,0,0,nfe,9.5e-7,26.0,0.481,0.00,-0.0100,4.64,0.00,0.731,0,17680,0,0,0,43492,0,0,0,20858,0,0,0,36060,0,0,0,52912,0,0,0,4148,0,0,2,349364,0,0,,,,,0,69388,0,0,0,33014,0,0 +17-43090974-T-G,17,43090974,rs1057520245,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Leu,p.Leu1385Leu,c.4155A>C,synonymous_variant,,,,2,1460228,0.0000013696491232875963,0,0,nfe,2.999999999999999e-7,4.19,,0.00,0.00,0.295,,,0,33468,0,0,0,44490,0,0,0,26020,0,0,0,39686,0,0,0,53216,0,0,0,5768,0,0,2,1111384,0,0,,,,,0,85876,0,0,0,60320,0,0 +17-43090974-T-C,17,43090974,rs1057520245,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Leu,p.Leu1385Leu,c.4155A>G,synonymous_variant,Likely benign,377571,,2,1460228,0.0000013696491232875963,0,0,nfe,2.999999999999999e-7,4.55,,0.00,0.00,0.295,,,0,33468,0,0,0,44490,0,0,0,26020,0,0,0,39686,0,0,0,53216,0,0,0,5768,0,0,2,1111384,0,0,,,,,0,85876,0,0,0,60320,0,0 +17-43090975-A-G,17,43090975,rs1597858317,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1385Pro,p.Leu1385Pro,c.4154T>C,missense_variant,Uncertain significance,808279,,2,1460254,0.0000013696247365184413,0,0,nfe,2.999999999999999e-7,17.8,0.438,0.00,0.00,0.999,0.0500,0.355,0,33468,0,0,0,44490,0,0,0,26024,0,0,0,39690,0,0,0,53226,0,0,0,5768,0,0,2,1111406,0,0,,,,,0,85864,0,0,0,60318,0,0 +17-43090979-C-A,17,43090979,rs1555586146,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1384Trp,p.Gly1384Trp,c.4150G>T,missense_variant,Uncertain significance,964444,,1,627294,0.0000015941488361119348,0,0,,,21.7,0.514,0.00,-0.0100,2.37,0.00,0.215,0,17684,0,0,0,43532,0,0,0,20886,0,0,0,36050,0,0,0,52964,0,0,0,4148,0,0,1,349558,0,0,,,,,0,69440,0,0,0,33032,0,0 +17-43090983-G-A,17,43090983,rs1057517574,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1382Cys,p.Cys1382Cys,c.4146C>T,synonymous_variant,Likely benign,462633,,1,1460502,6.846960839492175e-7,0,0,,,1.13,,0.00,-0.0100,-0.765,,,0,33474,0,0,0,44520,0,0,0,26032,0,0,0,39690,0,0,0,53244,0,0,0,5768,0,0,0,1111496,0,0,,,,,0,85946,0,0,1,60332,0,0 +17-43090985-A-T,17,43090985,rs786202106,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1382Ser,p.Cys1382Ser,c.4144T>A,missense_variant,Conflicting interpretations of pathogenicity,185348,,3,1612820,0.000001860095980952617,0,0,nfe,6.800000000000001e-7,11.2,0.516,0.0100,-0.0100,-0.0630,0.480,0.00300,0,74934,0,0,0,59812,0,0,0,29510,0,0,0,44892,0,0,0,63880,0,0,0,6084,0,0,3,1179586,0,0,0,912,0,0,0,90776,0,0,0,62434,0,0 +17-43090986-G-C,17,43090986,rs1567788391,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1381Glu,p.Asp1381Glu,c.4143C>G,missense_variant,Uncertain significance,628110,,1,627500,0.000001593625498007968,0,0,,,12.2,0.608,0.0100,-0.0300,0.0160,0.130,0.00,0,17688,0,0,0,43552,0,0,0,20896,0,0,0,36058,0,0,0,52958,0,0,0,4148,0,0,1,349660,0,0,,,,,0,69494,0,0,0,33046,0,0 +17-43090990-TCA-T,17,43090990,rs886040209,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1380ArgfsTer10,p.Glu1380ArgfsTer10,c.4137_4138del,frameshift_variant,Pathogenic,266451,,1,627566,0.000001593457899248844,0,0,,,32.0,,0.0300,-0.0300,2.34,,,0,17688,0,0,0,43564,0,0,0,20896,0,0,0,36060,0,0,0,52984,0,0,0,4148,0,0,0,349678,0,0,,,,,0,69500,0,0,1,33048,0,0 +17-43090991-C-T,17,43090991,rs2053439893,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1380Lys,p.Glu1380Lys,c.4138G>A,missense_variant,,,,1,627516,0.0000015935848647683883,0,0,,,24.4,0.504,0.0800,-0.0500,4.80,0.170,0.0380,0,17688,0,0,0,43562,0,0,0,20894,0,0,0,36060,0,0,0,52978,0,0,0,4148,0,0,1,349642,0,0,,,,,0,69498,0,0,0,33046,0,0 +17-43090992-A-G,17,43090992,rs1057521866,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1379Ser,p.Ser1379Ser,c.4137T>C,synonymous_variant,Likely benign,384118,,1,627524,0.0000015935645489256188,0,0,,,8.50,,0.00,-0.0100,-0.0100,,,0,17686,0,0,0,43568,0,0,0,20898,0,0,0,36060,0,0,0,52980,0,0,0,4148,0,0,1,349652,0,0,,,,,0,69490,0,0,0,33042,0,0 +17-43090995-G-A,17,43090995,rs1597858410,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1378Val,p.Val1378Val,c.4134C>T,synonymous_variant,Likely benign,763267,,3,779744,0.000003847416588008372,0,0,eas,0.00001928,4.56,,0.0100,-0.0100,0.404,,,0,59128,0,0,0,58844,0,0,0,24360,0,0,3,41258,0,0,0,63570,0,0,0,4464,0,0,0,417724,0,0,0,912,0,0,0,74354,0,0,0,35130,0,0 +17-43090997-C-T,17,43090997,rs28897690,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1378Ile,p.Val1378Ile,c.4132G>A,missense_variant,Benign,55111,,164,1612732,0.00010169079549484973,1,0,amr,0.0012379499999999998,0.0300,0.497,0.00,0.00,-0.329,0.400,0.00,1,74898,0,0,89,59814,1,0,1,29506,0,0,1,44890,0,0,0,63834,0,0,4,6084,0,0,61,1179578,0,0,0,912,0,0,5,90788,0,0,2,62428,0,0 +17-43090997-C-A,17,43090997,rs28897690,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1378Phe,p.Val1378Phe,c.4132G>T,missense_variant,Uncertain significance,482891,,2,152132,0.00001314647805852812,0,0,afr,0.00000443,0.119,0.544,0.00,-0.0100,-0.329,0.380,0.00,2,41424,0,0,0,15272,0,0,0,3470,0,0,0,5198,0,0,0,10598,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 +17-43090998-G-A,17,43090998,rs80356871,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1377Ser,p.Ser1377Ser,c.4131C>T,synonymous_variant,Likely benign,184408,,10,1460588,0.000006846557687725765,0,0,amr,0.000007440000000000001,4.59,,0.0100,-0.0100,0.601,,,1,33474,0,0,2,44548,0,0,0,26040,0,0,0,39690,0,0,0,53234,0,0,0,5768,0,0,7,1111538,0,0,,,,,0,85958,0,0,0,60338,0,0 +17-43090998-G-T,17,43090998,rs80356871,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1377Arg,p.Ser1377Arg,c.4131C>A,missense_variant,Uncertain significance,55110,,2,1460590,0.0000013693096625336336,0,0,sas,0.00000386,19.6,0.521,0.0100,-0.0100,0.601,0.00,0.767,0,33474,0,0,0,44548,0,0,0,26040,0,0,0,39690,0,0,0,53236,0,0,0,5768,0,0,0,1111538,0,0,,,,,2,85958,0,0,0,60338,0,0 +17-43091000-T-C,17,43091000,rs730881491,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1377Gly,p.Ser1377Gly,c.4129A>G,missense_variant,Uncertain significance,182159,,4,152184,0.000026283972033853757,0,0,afr,0.00003249,16.9,0.455,0.00,-0.0100,-0.429,0.0300,0.265,4,41442,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10608,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43091002-G-C,17,43091002,rs80356986,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1376Arg,p.Thr1376Arg,c.4127C>G,missense_variant,Conflicting interpretations of pathogenicity,37571,,23,1612798,0.000014260930383098194,0,0,nfe,0.00001221,23.9,0.506,0.00,-0.0100,8.54,0.00,0.0790,0,74912,0,0,0,59814,0,0,0,29504,0,0,0,44882,0,0,0,63860,0,0,0,6084,0,0,22,1179604,0,0,0,912,0,0,0,90792,0,0,1,62434,0,0 +17-43091003-T-C,17,43091003,rs576828558,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1376Ala,p.Thr1376Ala,c.4126A>G,missense_variant,Uncertain significance,824612,,2,779806,0.00000256474046108904,0,0,,,13.4,0.568,0.00,0.00,-0.188,0.420,0.0380,0,59252,0,0,0,58854,0,0,0,24356,0,0,2,41240,0,0,0,63592,0,0,0,4440,0,0,0,417694,0,0,0,912,0,0,0,74308,0,0,0,35158,0,0 +17-43091007-A-C,17,43091007,rs1555586200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Arg,p.Ser1374Arg,c.4122T>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,23.6,0.577,0.0300,-0.0400,1.08,0.00,0.153,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091007-ACT-A,17,43091007,rs80357787,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Ter,p.Ser1374Ter,c.4120_4121del,frameshift_variant,Pathogenic,37570,,1,833110,0.0000012003216862119048,0,0,,,29.1,,0.00,0.0100,1.08,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091008-C-A,17,43091008,rs1382449149,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1374Ile,p.Ser1374Ile,c.4121G>T,missense_variant,,,,1,1460540,6.846782696810769e-7,0,0,,,22.6,0.611,0.00,-0.0100,1.68,0.00,0.360,0,33472,0,0,0,44540,0,0,0,26030,0,0,0,39688,0,0,0,53230,0,0,0,5768,0,0,1,1111522,0,0,,,,,0,85946,0,0,0,60344,0,0 +17-43091008-C-T,17,43091008,rs1382449149,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1374Asn,p.Ser1374Asn,c.4121G>A,missense_variant,Uncertain significance,583140,,3,1612748,0.0000018601790236292341,0,0,nfe,6.800000000000001e-7,17.1,0.523,0.00,0.00,1.68,0.0300,0.150,0,74930,0,0,0,59814,0,0,0,29502,0,0,0,44888,0,0,0,63850,0,0,0,6084,0,0,3,1179562,0,0,0,910,0,0,0,90776,0,0,0,62432,0,0 +17-43091010-C-A,17,43091010,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1373Asp,p.Glu1373Asp,c.4119G>T,missense_variant,,,,1,627458,0.0000015937321701213467,0,0,,,1.21,0.553,0.0100,-0.0100,0.0170,0.460,0.00600,0,17686,0,0,0,43556,0,0,0,20886,0,0,0,36052,0,0,0,52946,0,0,0,4148,0,0,1,349650,0,0,,,,,0,69484,0,0,0,33050,0,0 +17-43091012-C-A,17,43091012,rs80357259,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1373Ter,p.Glu1373Ter,c.4117G>T,stop_gained,Pathogenic,37569,,1,627396,0.000001593889664581859,0,0,,,34.0,,0.0500,-0.100,4.20,,,0,17684,0,0,0,43538,0,0,0,20878,0,0,0,36054,0,0,0,52966,0,0,0,4148,0,0,0,349612,0,0,,,,,0,69472,0,0,1,33044,0,0 +17-43091014-C-T,17,43091014,rs55848034,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1372Tyr,p.Cys1372Tyr,c.4115G>A,missense_variant,Conflicting interpretations of pathogenicity,55105,,9,1612666,0.000005580820827127254,0,0,nfe,6.800000000000001e-7,5.03,0.445,0.00,0.00,2.28,1.00,0.00,0,74934,0,0,0,59812,0,0,5,29492,0,0,0,44882,0,0,0,63838,0,0,0,6082,0,0,3,1179540,0,0,0,912,0,0,0,90748,0,0,1,62426,0,0 +17-43091015-AC-A,17,43091015,rs80357861,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1372ValfsTer21,p.Cys1372ValfsTer21,c.4113del,frameshift_variant,Pathogenic,125680,,1,1460458,6.847167121546802e-7,0,0,,,22.6,,0.00,-0.0200,1.36,,,0,33470,0,0,0,44530,0,0,0,26018,0,0,0,39686,0,0,0,53232,0,0,0,5768,0,0,1,1111502,0,0,,,,,0,85912,0,0,0,60340,0,0 +17-43091015-A-G,17,43091015,rs1156932020,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1372Arg,p.Cys1372Arg,c.4114T>C,missense_variant,,,,1,1460458,6.847167121546802e-7,0,0,,,21.4,0.444,0.00,-0.0100,1.36,0.00,0.00,0,33470,0,0,0,44530,0,0,0,26018,0,0,0,39686,0,0,0,53232,0,0,0,5768,0,0,1,1111502,0,0,,,,,0,85912,0,0,0,60340,0,0 +17-43091016-C-T,17,43091016,rs147448807,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1371Gly,p.Gly1371Gly,c.4113G>A,synonymous_variant,Likely benign,136547,,421,1612698,0.0002610532164112562,1,0,afr,0.00418506,1.90,,0.0100,0.0100,-0.00500,,,344,75040,1,0,24,59824,0,0,0,29482,0,0,0,44864,0,0,0,63840,0,0,3,6062,0,0,11,1179488,0,0,0,912,0,0,0,90736,0,0,39,62450,0,0 +17-43091018-C-T,17,43091018,rs774593602,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1371Arg,p.Gly1371Arg,c.4111G>A,missense_variant,Conflicting interpretations of pathogenicity,630121,,3,627194,0.000004783209023045501,0,0,nfe,9.5e-7,21.1,0.499,0.0100,-0.0100,2.54,0.0200,0.105,0,17678,0,0,0,43530,0,0,0,20868,0,0,0,36052,0,0,0,52920,0,0,0,4148,0,0,2,349526,0,0,,,,,1,69434,0,0,0,33038,0,0 +17-43091018-C-G,17,43091018,rs774593602,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1371Arg,p.Gly1371Arg,c.4111G>C,missense_variant,Uncertain significance,185744,,1,627194,0.0000015944030076818337,0,0,,,20.1,0.499,0.00,-0.0100,2.54,0.0200,0.105,0,17678,0,0,0,43530,0,0,0,20868,0,0,0,36052,0,0,0,52920,0,0,0,4148,0,0,1,349526,0,0,,,,,0,69434,0,0,0,33038,0,0 +17-43091020-G-C,17,43091020,rs2154258345,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1370Cys,p.Ser1370Cys,c.4109C>G,missense_variant,,,,1,1460214,6.848311274922717e-7,0,0,,,22.9,0.435,0.0200,-0.0200,0.960,0.00,0.430,0,33466,0,0,0,44500,0,0,0,26018,0,0,0,39682,0,0,0,53166,0,0,0,5768,0,0,1,1111408,0,0,,,,,0,85874,0,0,0,60332,0,0 +17-43091021-A-G,17,43091021,rs2154258415,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1370Pro,p.Ser1370Pro,c.4108T>C,missense_variant,Uncertain significance,2125868,,1,1460178,6.848480116807677e-7,0,0,,,25.2,0.490,0.00,0.00,1.79,0.00,0.133,0,33466,0,0,0,44486,0,0,0,26016,0,0,0,39684,0,0,0,53208,0,0,0,5768,0,0,1,1111376,0,0,,,,,0,85840,0,0,0,60334,0,0 +17-43091023-G-A,17,43091023,rs762028824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1369Val,p.Ala1369Val,c.4106C>T,missense_variant,,,,1,626876,0.0000015952118122244272,0,0,,,22.7,0.501,0.0200,-0.0100,2.35,0.0200,0.00,0,17680,0,0,0,43492,0,0,0,20846,0,0,0,36050,0,0,0,52886,0,0,0,4148,0,0,0,349378,0,0,,,,,1,69364,0,0,0,33032,0,0 +17-43091025-T-C,17,43091025,rs2154258767,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Ala,p.Ala1368Ala,c.4104A>G,synonymous_variant,Likely benign,1200038,,1,626724,0.0000015955987005444183,0,0,,,8.88,,0.00,0.00,0.251,,,0,17678,0,0,0,43460,0,0,0,20836,0,0,0,36050,0,0,0,52902,0,0,0,4146,0,0,0,349280,0,0,,,,,1,69344,0,0,0,33028,0,0 +17-43091026-G-A,17,43091026,rs1385360559,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1368Val,p.Ala1368Val,c.4103C>T,missense_variant,Uncertain significance,824595,,7,1611848,0.000004342841260466247,0,0,sas,0.000028750000000000004,11.3,0.537,0.0500,-0.0400,-0.637,0.250,0.00500,0,74900,0,0,0,59706,0,0,0,29466,0,0,0,44872,0,0,0,63740,0,0,0,6084,0,0,0,1179140,0,0,0,910,0,0,6,90614,0,0,1,62416,0,0 +17-43091026-G-C,17,43091026,rs1385360559,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Gly,p.Ala1368Gly,c.4103C>G,missense_variant,,,,1,1459672,6.85085416449723e-7,0,0,,,18.8,0.578,0.0100,0.0200,-0.637,0.0300,0.00300,0,33462,0,0,0,44432,0,0,0,25994,0,0,0,39680,0,0,0,53122,0,0,0,5768,0,0,1,1111102,0,0,,,,,0,85784,0,0,0,60328,0,0 +17-43091027-C-T,17,43091027,rs1064796463,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1368Thr,p.Ala1368Thr,c.4102G>A,missense_variant,Uncertain significance,423494,,1,626546,0.0000015960520057585556,0,0,,,17.1,0.471,0.0100,0.0100,2.04,0.0900,0.00900,0,17672,0,0,0,43446,0,0,0,20832,0,0,0,36048,0,0,0,52886,0,0,0,4148,0,0,1,349182,0,0,,,,,0,69312,0,0,0,33020,0,0 +17-43091028-T-G,17,43091028,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1367Asp,p.Glu1367Asp,c.4101A>C,missense_variant,,,,1,1459572,6.851323538681202e-7,0,0,,,23.0,0.479,0.00,0.00,1.80,0.0600,0.00700,0,33460,0,0,0,44422,0,0,0,25974,0,0,0,39676,0,0,0,53160,0,0,0,5768,0,0,0,1111042,0,0,,,,,1,85750,0,0,0,60320,0,0 +17-43091032-C-T,17,43091032,rs876660948,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1366Asp,p.Gly1366Asp,c.4097G>A,missense_variant,Uncertain significance,234236,,3,1458844,0.0000020564227566484146,0,0,nfe,2.999999999999999e-7,17.4,0.560,0.120,-0.0600,0.164,0.250,0.00100,0,33448,0,0,0,44326,0,0,0,25958,0,0,0,39666,0,0,0,53074,0,0,0,5768,0,0,2,1110646,0,0,,,,,0,85664,0,0,1,60294,0,0 +17-43091034-T-C,17,43091034,rs80358019,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-2A>G,,c.4097-2A>G,splice_acceptor_variant,Pathogenic,55103,,2,777696,0.000002571698967205695,0,0,,,35.0,,0.980,0.870,6.33,,,0,59120,0,0,0,58602,0,0,0,24274,0,0,0,41232,0,0,2,63386,0,0,0,4464,0,0,0,416650,0,0,0,912,0,0,0,73980,0,0,0,35076,0,0 +17-43091038-A-C,17,43091038,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-6T>G,,c.4097-6T>G,splice_region_variant,,,,1,833026,0.0000012004427232763443,0,0,,,22.9,,0.760,-0.760,1.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761828,0,0,,,,,0,16460,0,0,0,27292,0,0 +17-43091039-T-C,17,43091039,rs80358007,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-7A>G,,c.4097-7A>G,splice_region_variant,Conflicting interpretations of pathogenicity,125677,,2,624784,0.000003201106302338088,0,0,nfe,9.6e-7,0.519,,0.00,0.0100,-0.591,,,0,17662,0,0,0,43240,0,0,0,20766,0,0,0,36028,0,0,0,52732,0,0,0,4144,0,0,2,348208,0,0,,,,,0,69038,0,0,0,32966,0,0 +17-43091039-T-A,17,43091039,rs80358007,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-7A>T,,c.4097-7A>T,splice_region_variant,Uncertain significance,918216,,1,624784,0.000001600553151169044,0,0,,,0.413,,0.00,0.0100,-0.591,,,0,17662,0,0,1,43240,0,0,0,20766,0,0,0,36028,0,0,0,52732,0,0,0,4144,0,0,0,348208,0,0,,,,,0,69038,0,0,0,32966,0,0 +17-43091040-A-G,17,43091040,rs1555586287,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-8T>C,,c.4097-8T>C,splice_region_variant,Likely benign,514894,,2,624628,0.0000032019057743168735,0,0,,,5.08,,0.00,0.00,-0.703,,,0,17662,0,0,0,43232,0,0,0,20760,0,0,0,36026,0,0,0,52704,0,0,2,4146,0,0,0,348134,0,0,,,,,0,69000,0,0,0,32964,0,0 +17-43091042-C-T,17,43091042,rs80358057,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-10G>A,,c.4097-10G>A,intron_variant,Benign,125672,,18,1608984,0.000011187183962053073,0,0,nfe,0.00000765,0.728,,0.00,0.00,-1.03,,,0,74858,0,0,2,59458,0,0,0,29360,0,0,0,44832,0,0,0,63512,0,0,0,6080,0,0,15,1177448,0,0,0,912,0,0,0,90222,0,0,1,62302,0,0 +17-43091042-C-A,17,43091042,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-10G>T,,c.4097-10G>T,intron_variant,,,,1,1456824,6.864247156828828e-7,0,0,,,0.345,,0.00,0.0100,-1.03,,,0,33430,0,0,0,44176,0,0,0,25890,0,0,0,39638,0,0,0,52902,0,0,0,5764,0,0,1,1109418,0,0,,,,,0,85392,0,0,0,60214,0,0 +17-43091042-CA-C,17,43091042,rs2154259579,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-11del,,c.4097-11del,intron_variant,Benign,1599899,,1,1456824,6.864247156828828e-7,0,0,,,0.426,,0.0200,0.0100,-1.03,,,0,33430,0,0,0,44176,0,0,0,25890,0,0,0,39638,0,0,0,52902,0,0,0,5764,0,0,1,1109418,0,0,,,,,0,85392,0,0,0,60214,0,0 +17-43091043-A-G,17,43091043,rs80358072,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-11T>C,,c.4097-11T>C,intron_variant,Benign,125673,,7,1608798,0.000004351074528934024,0,0,eas,0.000007390000000000001,4.88,,0.0200,-0.0300,-0.0600,,,0,74894,0,0,0,59418,0,0,0,29356,0,0,2,44834,0,0,0,63490,0,0,0,6078,0,0,1,1177340,0,0,0,912,0,0,1,90182,0,0,3,62294,0,0 +17-43091046-AAC-A,17,43091046,,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16_4097-15del,,c.4097-16_4097-15del,intron_variant,Likely benign,2056079,,2,832550,0.000002402258122635277,0,0,nfe,4.4e-7,3.01,,0.0100,-0.0100,-0.812,,,0,15768,0,0,0,984,0,0,0,5144,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,2,761412,0,0,,,,,0,16450,0,0,0,27270,0,0 +17-43091048-C-G,17,43091048,rs1555586303,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16G>C,,c.4097-16G>C,intron_variant,Likely benign,1627563,,13,1453636,0.000008943091668065458,0,0,nfe,0.00000655,1.40,,0.00,0.00,-0.0340,,,0,33402,0,0,0,43878,0,0,0,25804,0,0,0,39610,0,0,0,52636,0,0,0,5760,0,0,13,1107400,0,0,,,,,0,85064,0,0,0,60082,0,0 +17-43091048-C-T,17,43091048,rs1555586303,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-16G>A,,c.4097-16G>A,intron_variant,Likely benign,531492,,1,1453636,6.879301283127276e-7,0,0,,,2.29,,0.0100,-0.0100,-0.0340,,,1,33402,0,0,0,43878,0,0,0,25804,0,0,0,39610,0,0,0,52636,0,0,0,5760,0,0,0,1107400,0,0,,,,,0,85064,0,0,0,60082,0,0 +17-43091052-G-A,17,43091052,rs80358169,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-20C>T,,c.4097-20C>T,intron_variant,Benign/Likely benign,125675,,8,983136,0.000008137226182338965,0,0,nfe,0.0000026100000000000004,4.36,,0.00,0.00,0.441,,,0,57158,0,0,0,16256,0,0,0,8608,0,0,1,8814,0,0,0,10868,0,0,0,1934,0,0,6,828030,0,0,0,912,0,0,0,21244,0,0,1,29312,0,0 +17-43091053-G-C,17,43091053,rs1567788670,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-21C>G,,c.4097-21C>G,intron_variant,,,,1,1450776,6.892862854086365e-7,0,0,,,4.89,,0.0200,-0.0200,0.281,,,0,33354,0,0,0,43720,0,0,0,25768,0,0,0,39586,0,0,0,52496,0,0,0,5758,0,0,0,1105256,0,0,,,,,1,84872,0,0,0,59966,0,0 +17-43091057-A-G,17,43091057,rs773630860,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-25T>C,,c.4097-25T>C,intron_variant,,,,4,1445062,0.000002768047322537026,0,0,nfe,7.3e-7,5.99,,0.0300,-0.0200,0.508,,,0,33266,0,0,1,43348,0,0,0,25724,0,0,0,39506,0,0,0,52290,0,0,0,5744,0,0,3,1100886,0,0,,,,,0,84514,0,0,0,59784,0,0 +17-43091057-A-T,17,43091057,rs773630860,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-25T>A,,c.4097-25T>A,intron_variant,,,,1,1445062,6.920118306342565e-7,0,0,,,6.49,,0.0300,-0.0300,0.508,,,0,33266,0,0,1,43348,0,0,0,25724,0,0,0,39506,0,0,0,52290,0,0,0,5744,0,0,0,1100886,0,0,,,,,0,84514,0,0,0,59784,0,0 +17-43091058-G-A,17,43091058,rs2154259929,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-26C>T,,c.4097-26C>T,intron_variant,,,,1,1444880,6.920989978406512e-7,0,0,,,6.13,,0.0100,0.00,0.235,,,0,33258,0,0,0,43346,0,0,0,25718,0,0,0,39512,0,0,0,52284,0,0,0,5740,0,0,0,1100704,0,0,,,,,0,84536,0,0,1,59782,0,0 +17-43091058-G-T,17,43091058,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-26C>A,,c.4097-26C>A,intron_variant,,,,1,1444880,6.920989978406512e-7,0,0,,,5.64,,0.0100,-0.0100,0.235,,,0,33258,0,0,0,43346,0,0,0,25718,0,0,0,39512,0,0,0,52284,0,0,0,5740,0,0,1,1100704,0,0,,,,,0,84536,0,0,0,59782,0,0 +17-43091060-T-C,17,43091060,rs869320777,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-28A>G,,c.4097-28A>G,intron_variant,Benign/Likely benign,225708,,78,1595680,0.00004888198134964404,0,0,nfe,0.00004997,5.75,,0.00,0.00,0.696,,,1,74662,0,0,0,58574,0,0,0,29178,0,0,0,44702,0,0,0,62812,0,0,0,6064,0,0,72,1167748,0,0,0,912,0,0,0,89218,0,0,5,61810,0,0 +17-43091060-T-A,17,43091060,rs869320777,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4097-28A>T,,c.4097-28A>T,intron_variant,,,,2,152200,0.00001314060446780552,0,0,,,4.97,,0.00,0.00,0.696,,,0,41454,0,0,0,15282,0,0,0,3470,0,0,0,5196,0,0,2,10612,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43091060-T-G,17,43091060,rs869320777,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-28A>C,,c.4097-28A>C,intron_variant,,,,2,1595680,0.00000125338413717036,0,0,,,5.32,,0.00,-0.0100,0.696,,,0,74662,0,0,2,58574,0,0,0,29178,0,0,0,44702,0,0,0,62812,0,0,0,6064,0,0,0,1167748,0,0,0,912,0,0,0,89218,0,0,0,61810,0,0 +17-43091061-G-A,17,43091061,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-29C>T,,c.4097-29C>T,intron_variant,,,,1,1440404,6.942496688429079e-7,0,0,,,0.892,,0.00,0.00,-0.152,,,0,33160,0,0,0,43164,0,0,0,25686,0,0,0,39452,0,0,0,52070,0,0,0,5744,0,0,1,1097298,0,0,,,,,0,84248,0,0,0,59582,0,0 +17-43091066-A-C,17,43091066,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-34T>G,,c.4097-34T>G,intron_variant,,,,1,611706,0.0000016347722598764765,0,0,,,0.768,,0.00,0.00,-0.390,,,0,17488,0,0,0,41718,0,0,0,20520,0,0,0,35738,0,0,0,51422,0,0,0,4132,0,0,1,340722,0,0,,,,,0,67556,0,0,0,32410,0,0 +17-43091068-C-T,17,43091068,rs1250083831,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-36G>A,,c.4097-36G>A,intron_variant,,,,14,1578192,0.000008870910510254773,0,0,nfe,0.000007040000000000001,1.92,,0.00,0.00,0.268,,,0,74318,0,0,0,57808,0,0,0,29014,0,0,0,44458,0,0,0,62122,0,0,0,6044,0,0,14,1153950,0,0,0,912,0,0,0,88376,0,0,0,61190,0,0 +17-43091069-A-G,17,43091069,rs2154260071,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-37T>C,,c.4097-37T>C,intron_variant,,,,1,812864,0.0000012302180930635382,0,0,,,3.34,,0.00,0.00,0.182,,,0,15346,0,0,0,950,0,0,0,5030,0,0,0,3520,0,0,0,274,0,0,0,1592,0,0,1,743516,0,0,,,,,0,16012,0,0,0,26624,0,0 +17-43091069-A-C,17,43091069,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-37T>G,,c.4097-37T>G,intron_variant,,,,1,812864,0.0000012302180930635382,0,0,,,3.10,,0.00,0.00,0.182,,,0,15346,0,0,0,950,0,0,0,5030,0,0,0,3520,0,0,0,274,0,0,0,1592,0,0,1,743516,0,0,,,,,0,16012,0,0,0,26624,0,0 +17-43091071-A-C,17,43091071,rs760464287,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-39T>G,,c.4097-39T>G,intron_variant,,,,3,606458,0.000004946756411820769,0,0,eas,0.00002236,6.24,,0.00,0.00,-0.243,,,0,17382,0,0,0,40912,0,0,0,20468,0,0,3,35558,0,0,0,50850,0,0,0,4128,0,0,0,337938,0,0,,,,,0,67040,0,0,0,32182,0,0 +17-43091074-A-G,17,43091074,rs2154260177,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-42T>C,,c.4097-42T>C,intron_variant,,,,1,1390158,7.193426934204601e-7,0,0,,,3.36,,0.00,-0.0100,-0.0750,,,0,32156,0,0,0,41344,0,0,0,25304,0,0,0,38826,0,0,0,50774,0,0,0,5650,0,0,1,1055986,0,0,,,,,0,82260,0,0,0,57858,0,0 +17-43091079-C-T,17,43091079,rs766094343,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-47G>A,,c.4097-47G>A,intron_variant,,,,8,1515158,0.000005279977401696721,0,0,nfe,0.0000031200000000000006,1.08,,0.00,0.00,0.0920,,,0,73002,0,0,0,55728,0,0,0,28626,0,0,0,43642,0,0,0,60766,0,0,0,5906,0,0,8,1101450,0,0,0,912,0,0,0,86162,0,0,0,58964,0,0 +17-43091080-G-A,17,43091080,rs776594341,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-48C>T,,c.4097-48C>T,intron_variant,,,,17,1478414,0.000011498808858682345,0,0,amr,0.00003518999999999999,2.63,,0.00,0.00,-0.367,,,0,72250,0,0,5,54538,0,0,0,28386,0,0,0,43146,0,0,0,59682,0,0,0,5840,0,0,8,1070982,0,0,0,912,0,0,0,84896,0,0,4,57782,0,0 +17-43091083-G-A,17,43091083,rs2154260358,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-51C>T,,c.4097-51C>T,intron_variant,,,,3,1333690,0.000002249398285958506,0,0,nfe,3.3e-7,0.0590,,0.00,0.00,-1.69,,,0,30992,0,0,1,39360,0,0,0,24938,0,0,0,38014,0,0,0,49076,0,0,0,5540,0,0,2,1009662,0,0,,,,,0,80166,0,0,0,55942,0,0 +17-43091084-C-T,17,43091084,rs2053452017,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-52G>A,,c.4097-52G>A,intron_variant,,,,2,742714,0.000002692826579275468,0,0,,,0.235,,0.00,0.00,0.147,,,0,58520,0,0,0,53812,0,0,0,23808,0,0,1,40024,0,0,0,59540,0,0,0,4412,0,0,1,397534,0,0,0,912,0,0,0,70426,0,0,0,33726,0,0 +17-43091086-A-G,17,43091086,rs2154260414,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-54T>C,,c.4097-54T>C,intron_variant,,,,4,588694,0.000006794701491776712,0,0,amr,0.00003536999999999999,2.94,,0.00,0.00,-0.00400,,,0,17032,0,0,4,38236,0,0,0,20336,0,0,0,34746,0,0,0,48696,0,0,0,4096,0,0,0,328536,0,0,,,,,0,65452,0,0,0,31564,0,0 +17-43091087-C-T,17,43091087,rs2154260440,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-55G>A,,c.4097-55G>A,intron_variant,,,,2,1305756,0.0000015316797318947797,0,0,sas,0.00000418,5.31,,0.00,0.00,0.178,,,0,30328,0,0,0,38582,0,0,0,24736,0,0,0,37586,0,0,0,48414,0,0,0,5488,0,0,0,986302,0,0,,,,,2,79384,0,0,0,54936,0,0 +17-43091089-T-C,17,43091089,rs1472365336,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.4097-57A>G,,c.4097-57A>G,intron_variant,,,,1,152206,0.000006570043230884459,0,0,,,8.96,,0.00,0.00,0.0620,,,0,41452,0,0,0,15282,0,0,0,3472,0,0,0,5194,0,0,0,10616,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43091090-G-A,17,43091090,rs2154260484,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-58C>T,,c.4097-58C>T,intron_variant,,,,1,1307682,7.647119100821147e-7,0,0,,,2.92,,0.0100,0.0600,0.449,,,0,30344,0,0,0,38606,0,0,0,24758,0,0,0,37594,0,0,0,48306,0,0,0,5492,0,0,1,988150,0,0,,,,,0,79402,0,0,0,55030,0,0 +17-43091090-G-T,17,43091090,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-58C>A,,c.4097-58C>A,intron_variant,,,,2,1307678,0.000001529428498452983,0,0,afr,0.00001091,2.33,,0.00,0.00,0.449,,,2,30344,0,0,0,38606,0,0,0,24758,0,0,0,37594,0,0,0,48306,0,0,0,5492,0,0,0,988146,0,0,,,,,0,79402,0,0,0,55030,0,0 +17-43091091-CTG-C,17,43091091,rs1343420727,CTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-61_4097-60del,,c.4097-61_4097-60del,intron_variant,,,,4,1307880,0.0000030583845612747347,0,0,,,0.0280,,0.00,0.00,-0.261,,,0,30336,0,0,1,38528,0,0,0,24766,0,0,0,37530,0,0,0,48218,0,0,0,5494,0,0,0,988652,0,0,,,,,0,79338,0,0,3,55018,0,0 +17-43091093-G-T,17,43091093,rs273900722,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-61C>A,,c.4097-61C>A,intron_variant,Uncertain significance,125676,,4,734934,0.000005442665599904209,0,0,nfe,0.00000338,0.0740,,0.00,0.00,-1.09,,,0,58284,0,0,0,52604,0,0,0,23746,0,0,0,39532,0,0,0,58296,0,0,0,4406,0,0,4,393866,0,0,0,912,0,0,0,69814,0,0,0,33474,0,0 +17-43091094-T-A,17,43091094,rs1273737309,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-62A>T,,c.4097-62A>T,intron_variant,,,,2,1282036,0.0000015600185954216573,0,0,nfe,3.399999999999999e-7,0.452,,0.00,0.00,-1.25,,,0,29788,0,0,0,37942,0,0,0,24532,0,0,0,37198,0,0,0,47666,0,0,0,5440,0,0,2,966814,0,0,,,,,0,78576,0,0,0,54080,0,0 +17-43091094-T-C,17,43091094,rs1273737309,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-62A>G,,c.4097-62A>G,intron_variant,,,,3,1282036,0.000002340027893132486,0,0,,,0.612,,0.00,0.00,-1.25,,,0,29788,0,0,0,37942,0,0,0,24532,0,0,0,37198,0,0,0,47666,0,0,3,5440,0,0,0,966814,0,0,,,,,0,78576,0,0,0,54080,0,0 +17-43091095-G-A,17,43091095,rs2154260570,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4097-63C>T,,c.4097-63C>T,intron_variant,,,,1,1281266,7.804780584203436e-7,0,0,,,0.707,,0.00,0.00,-1.03,,,0,29788,0,0,0,37938,0,0,0,24542,0,0,0,37150,0,0,0,47570,0,0,0,5430,0,0,1,966240,0,0,,,,,0,78526,0,0,0,54082,0,0 +17-43091096-T-A,17,43091096,rs2053452775,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4097-64A>T,,c.4097-64A>T,intron_variant,,,,2,1413398,0.0000014150295953439865,0,0,,,0.272,,0.00,0.00,-1.04,,,0,70766,0,0,0,52838,0,0,0,27902,0,0,0,42088,0,0,0,57742,0,0,0,5716,0,0,1,1017126,0,0,0,912,0,0,0,82824,0,0,1,55484,0,0 +17-43091098-T-C,17,43091098,rs1188952120,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*233A>G,,c.*233A>G,3_prime_UTR_variant,,,,14,1410154,0.00000992799368012288,0,0,nfe,0.00000801,6.77,,0.00,0.00,-0.185,,,0,70674,0,0,0,52822,0,0,0,27864,0,0,0,42032,0,0,0,57592,0,0,0,5716,0,0,14,1014368,0,0,0,912,0,0,0,82788,0,0,0,55386,0,0 +17-43091100-T-C,17,43091100,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*231A>G,,c.*231A>G,3_prime_UTR_variant,,,,1,1225558,8.159548548497909e-7,0,0,,,7.94,,0.00,0.0100,0.853,,,0,28538,0,0,0,37156,0,0,0,24208,0,0,0,36498,0,0,0,46390,0,0,0,5316,0,0,0,918148,0,0,,,,,1,77054,0,0,0,52250,0,0 +17-43091101-T-C,17,43091101,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*230A>G,,c.*230A>G,3_prime_UTR_variant,,,,1,650288,0.0000015377801835494427,0,0,,,0.176,,0.00,0.00,-0.132,,,0,11938,0,0,0,768,0,0,0,3996,0,0,0,2704,0,0,0,218,0,0,0,1244,0,0,1,595642,0,0,,,,,0,12660,0,0,0,21118,0,0 +17-43091102-T-C,17,43091102,rs2154260629,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*229A>G,,c.*229A>G,3_prime_UTR_variant,,,,1,1226500,8.153281695882593e-7,0,0,,,7.81,,0.00,0.00,0.817,,,0,28540,0,0,0,37138,0,0,0,24202,0,0,0,36510,0,0,0,46396,0,0,0,5320,0,0,1,919060,0,0,,,,,0,77052,0,0,0,52282,0,0 +17-43091104-T-C,17,43091104,rs2154260681,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*227A>G,,c.*227A>G,3_prime_UTR_variant,,,,1,1211688,8.252949604188537e-7,0,0,,,10.6,,0.00,0.00,0.863,,,0,28174,0,0,0,36896,0,0,0,24114,0,0,0,36292,0,0,0,45932,0,0,0,5268,0,0,1,906616,0,0,,,,,0,76612,0,0,0,51784,0,0 +17-43091261-T-C,17,43091261,rs2154262301,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*70A>G,,c.*70A>G,3_prime_UTR_variant,,,,2,755580,0.0000026469731861616242,0,0,nfe,6.499999999999999e-7,3.77,,0.00,0.0100,-0.192,,,0,18546,0,0,0,31746,0,0,0,20568,0,0,0,32892,0,0,0,37320,0,0,0,3344,0,0,2,509678,0,0,,,,,0,64660,0,0,0,36826,0,0 +17-43091262-G-C,17,43091262,rs1430559566,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*69C>G,,c.*69C>G,3_prime_UTR_variant,,,,5,915664,0.00000546051826870992,0,0,nfe,0.0000025100000000000005,0.0980,,0.00,0.00,-0.238,,,0,60148,0,0,0,47164,0,0,0,24120,0,0,0,38144,0,0,0,48014,0,0,0,3688,0,0,5,584506,0,0,0,912,0,0,0,69762,0,0,0,39206,0,0 +17-43091262-G-A,17,43091262,rs1430559566,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*69C>T,,c.*69C>T,3_prime_UTR_variant,,,,1,763440,0.0000013098606308288798,0,0,,,0.120,,0.00,0.00,-0.238,,,0,18684,0,0,1,31898,0,0,0,20648,0,0,0,32944,0,0,0,37394,0,0,0,3372,0,0,0,516456,0,0,,,,,0,64930,0,0,0,37114,0,0 +17-43091263-T-G,17,43091263,,T,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*68A>C,,c.*68A>C,3_prime_UTR_variant,,,,1,763830,0.0000013091918358797115,0,0,,,1.78,,0.00,0.00,0.0420,,,0,18650,0,0,0,31776,0,0,0,20652,0,0,0,32956,0,0,0,37526,0,0,0,3404,0,0,0,516892,0,0,,,,,1,64822,0,0,0,37152,0,0 +17-43091264-G-C,17,43091264,rs906236078,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*67C>G,,c.*67C>G,3_prime_UTR_variant,,,,6,931842,0.000006438859806705429,0,0,afr,0.00004259999999999998,0.453,,0.00,0.00,-0.0400,,,6,60396,0,0,0,47182,0,0,0,24260,0,0,0,38236,0,0,0,48248,0,0,0,3776,0,0,0,599032,0,0,0,912,0,0,0,70000,0,0,0,39800,0,0 +17-43091266-G-T,17,43091266,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*65C>A,,c.*65C>A,3_prime_UTR_variant,,,,1,793370,0.0000012604459457756155,0,0,,,0.124,,0.00,0.0100,0.404,,,0,19144,0,0,0,31850,0,0,0,20868,0,0,0,33076,0,0,0,37844,0,0,0,3582,0,0,1,543238,0,0,,,,,0,65566,0,0,0,38202,0,0 +17-43091266-G-A,17,43091266,rs1003201275,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*65C>T,,c.*65C>T,3_prime_UTR_variant,,,,5,945568,0.000005287826999221632,0,0,afr,0.00001314,0.158,,0.00,0.00,0.404,,,3,60588,0,0,1,47124,0,0,0,24336,0,0,0,38276,0,0,0,48460,0,0,0,3898,0,0,0,611286,0,0,0,912,0,0,0,70394,0,0,1,40294,0,0 +17-43091269-G-T,17,43091269,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*62C>A,,c.*62C>A,3_prime_UTR_variant,,,,2,818106,0.0000024446709839556242,0,0,,,0.0400,,0.00,0.00,0.135,,,0,19620,0,0,0,31886,0,0,0,21058,0,0,0,33150,0,0,0,38228,0,0,0,3722,0,0,1,565166,0,0,,,,,1,66190,0,0,0,39086,0,0 +17-43091270-G-T,17,43091270,rs2053459469,G,T,gnomAD Genomes,NA,PASS,ENST00000354071.7,c.*61C>A,,c.*61C>A,3_prime_UTR_variant,,,,3,152154,0.000019716865807011317,0,0,afr,0.00001302,0.977,,0.00,0.00,1.11,,,3,41430,0,0,0,15260,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43091272-CT-C,17,43091272,rs1429354918,CT,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*58del,,c.*58del,3_prime_UTR_variant,,,,16,873804,0.000018310742454829688,1,0,sas,0.00012512,5.27,,0.00,0.00,0.221,,,0,20738,0,0,0,31964,0,0,0,21436,0,0,0,33438,0,0,0,38696,0,0,0,3918,0,0,1,615288,0,0,,,,,14,67402,1,0,1,40924,0,0 +17-43091272-C-T,17,43091272,,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*59G>A,,c.*59G>A,3_prime_UTR_variant,,,,1,873804,0.0000011444214034268555,0,0,,,0.240,,0.00,0.00,0.221,,,0,20738,0,0,0,31964,0,0,0,21436,0,0,0,33438,0,0,0,38696,0,0,0,3918,0,0,1,615288,0,0,,,,,0,67402,0,0,0,40924,0,0 +17-43091272-C-CT,17,43091272,rs1429354918,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*58dup,,c.*58dup,3_prime_UTR_variant,,,,4,1025934,0.000003898886283133223,0,0,amr,0.00001685,5.97,,0.00,0.00,0.221,,,0,62156,0,0,3,47234,0,0,0,24906,0,0,0,38642,0,0,0,49312,0,0,0,4234,0,0,1,683300,0,0,0,912,0,0,0,72222,0,0,0,43016,0,0 +17-43091278-T-C,17,43091278,rs867252606,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*53A>G,,c.*53A>G,3_prime_UTR_variant,,,,1,546490,0.000001829859649764863,0,0,,,5.46,,0.00,0.0100,-0.587,,,1,14850,0,0,0,31582,0,0,0,19398,0,0,0,32154,0,0,0,39328,0,0,0,3380,0,0,0,314474,0,0,,,,,0,61278,0,0,0,30046,0,0 +17-43091279-C-T,17,43091279,rs1183985102,C,T,"gnomAD Exomes,gnomAD 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Exomes,PASS,NA,ENST00000354071.7,c.*49A>C,,c.*49A>C,3_prime_UTR_variant,,,,1,942968,0.0000010604813737051523,0,0,,,3.67,,0.00,0.00,0.371,,,0,21928,0,0,0,32048,0,0,0,21860,0,0,0,33830,0,0,0,40056,0,0,0,4258,0,0,1,676758,0,0,,,,,0,69182,0,0,0,43048,0,0 +17-43091283-G-A,17,43091283,rs2053460196,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*48C>T,,c.*48C>T,3_prime_UTR_variant,,,,4,1099408,0.0000036383217149593234,0,0,afr,0.000020710000000000003,10.4,,0.00,0.00,0.400,,,4,63444,0,0,0,47056,0,0,0,25394,0,0,0,39080,0,0,0,50774,0,0,0,4610,0,0,0,748880,0,0,0,912,0,0,0,73976,0,0,0,45282,0,0 +17-43091284-A-G,17,43091284,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*47T>C,,c.*47T>C,3_prime_UTR_variant,,,,1,405036,0.0000024689163432386256,0,0,,,13.2,,0.00,0.00,0.797,,,0,7294,0,0,0,494,0,0,0,2498,0,0,0,1650,0,0,0,140,0,0,0,798,0,0,1,370968,0,0,,,,,0,7898,0,0,0,13296,0,0 +17-43091288-G-C,17,43091288,rs1250784398,G,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*43C>G,,c.*43C>G,3_prime_UTR_variant,,,,9,965138,0.00000932509133408901,0,0,nfe,0.00000495,13.1,,0.00,0.00,1.54,,,0,22492,0,0,0,32596,0,0,0,22118,0,0,0,34078,0,0,0,41032,0,0,0,4434,0,0,8,694608,0,0,,,,,1,69996,0,0,0,43784,0,0 +17-43091288-G-A,17,43091288,rs1250784398,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*43C>T,,c.*43C>T,3_prime_UTR_variant,,,,3,1117324,0.000002684986628766589,0,0,nfe,0.00000105,13.4,,0.00,0.00,1.54,,,0,63934,0,0,0,47878,0,0,0,25590,0,0,0,39278,0,0,0,51644,0,0,0,4750,0,0,3,762630,0,0,0,912,0,0,0,74830,0,0,0,45878,0,0 +17-43091288-G-T,17,43091288,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*43C>A,,c.*43C>A,3_prime_UTR_variant,,,,1,965132,0.0000010361277006668517,0,0,,,12.9,,0.00,0.00,1.54,,,0,22492,0,0,0,32596,0,0,0,22118,0,0,0,34078,0,0,0,41032,0,0,0,4434,0,0,1,694602,0,0,,,,,0,69996,0,0,0,43784,0,0 +17-43091290-AC-A,17,43091290,,AC,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*40del,,c.*40del,3_prime_UTR_variant,,,,1,420292,0.0000023792982022022785,0,0,,,9.43,,0.00,0.00,0.974,,,0,7554,0,0,0,500,0,0,0,2590,0,0,0,1694,0,0,0,156,0,0,0,828,0,0,1,384936,0,0,,,,,0,8198,0,0,0,13836,0,0 +17-43091291-C-T,17,43091291,rs1471988301,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*40G>A,,c.*40G>A,3_prime_UTR_variant,,,,1,992724,0.0000010073293281919245,0,0,,,12.2,,0.00,0.00,0.196,,,0,23352,0,0,0,34870,0,0,0,22646,0,0,0,34330,0,0,0,41948,0,0,0,4614,0,0,0,714244,0,0,,,,,0,71890,0,0,1,44830,0,0 +17-43091292-CT-C,17,43091292,rs757538941,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*38del,,c.*38del,3_prime_UTR_variant,,,,2,1154896,0.0000017317576647594242,0,0,,,9.51,,0.00,0.0300,1.76,,,0,64952,0,0,0,50276,0,0,0,26164,0,0,0,39622,0,0,0,52762,0,0,0,4982,0,0,2,791018,0,0,0,912,0,0,0,76978,0,0,0,47230,0,0 +17-43091294-TAGG-T,17,43091294,,TAGG,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*34_*36del,,c.*34_*36del,3_prime_UTR_variant,,,,1,443066,0.000002257000085766003,0,0,,,11.0,,0.00,-0.0300,0.390,,,0,7942,0,0,0,512,0,0,0,2730,0,0,0,1822,0,0,0,180,0,0,0,870,0,0,1,405832,0,0,,,,,0,8636,0,0,0,14542,0,0 +17-43091297-G-A,17,43091297,rs1419980832,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*34C>T,,c.*34C>T,3_prime_UTR_variant,,,,2,1174612,0.0000017026899095190581,0,0,,,13.3,,0.00,0.00,1.85,,,0,65404,0,0,0,50812,0,0,0,26346,0,0,0,39938,0,0,0,53876,0,0,0,5072,0,0,2,806578,0,0,0,912,0,0,0,77802,0,0,0,47872,0,0 +17-43091298-A-G,17,43091298,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*33T>C,,c.*33T>C,3_prime_UTR_variant,,,,1,1028956,9.718588549947714e-7,0,0,,,15.0,,0.00,0.00,1.83,,,0,24078,0,0,0,35630,0,0,0,22912,0,0,0,34830,0,0,0,43604,0,0,0,4794,0,0,0,744040,0,0,,,,,1,73132,0,0,0,45936,0,0 +17-43091299-G-T,17,43091299,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*32C>A,,c.*32C>A,3_prime_UTR_variant,,,,1,1040210,9.613443439305525e-7,0,0,,,14.8,,0.00,0.00,1.90,,,0,24302,0,0,0,35712,0,0,0,23010,0,0,0,34928,0,0,0,43730,0,0,0,4838,0,0,1,753848,0,0,,,,,0,73448,0,0,0,46394,0,0 +17-43091301-A-C,17,43091301,rs1008458471,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*30T>G,,c.*30T>G,3_prime_UTR_variant,,,,3,1202374,0.000002495063931854814,0,0,sas,0.00001014,15.5,,0.00,0.00,1.54,,,0,65956,0,0,0,51244,0,0,0,26548,0,0,0,40256,0,0,0,54716,0,0,0,5202,0,0,0,830148,0,0,0,912,0,0,3,78598,0,0,0,48794,0,0 +17-43091302-A-G,17,43091302,rs765209391,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*29T>C,,c.*29T>C,3_prime_UTR_variant,,,,6,1055590,0.00000568402504760371,0,0,sas,0.00003231,14.9,,0.00,0.00,1.13,,,0,24598,0,0,0,36048,0,0,0,23104,0,0,0,35142,0,0,0,44300,0,0,0,4914,0,0,0,766660,0,0,,,,,5,73944,0,0,1,46880,0,0 +17-43091303-C-T,17,43091303,rs1164103531,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*28G>A,,c.*28G>A,3_prime_UTR_variant,,,,1,1067526,9.367453345398613e-7,0,0,,,12.2,,0.00,0.00,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,0,35230,0,0,0,44458,0,0,0,4944,0,0,1,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 +17-43091303-C-A,17,43091303,rs1164103531,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*28G>T,,c.*28G>T,3_prime_UTR_variant,,,,1,1067526,9.367453345398613e-7,0,0,,,11.4,,0.00,0.0300,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,1,35230,0,0,0,44458,0,0,0,4944,0,0,0,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 +17-43091303-CAT-C,17,43091303,,CAT,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*26_*27del,,c.*26_*27del,3_prime_UTR_variant,,,,2,1067526,0.0000018734906690797226,0,0,nfe,4.299999999999999e-7,1.86,,0.00,-0.0100,0.679,,,0,24844,0,0,0,36080,0,0,0,23176,0,0,0,35230,0,0,0,44458,0,0,0,4944,0,0,2,777336,0,0,,,,,0,74254,0,0,0,47204,0,0 +17-43091305-T-C,17,43091305,rs1347945159,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*26A>G,,c.*26A>G,3_prime_UTR_variant,,,,6,1070222,0.000005606313456460435,0,0,nfe,0.0000012000000000000002,0.215,,0.00,0.00,-2.35,,,0,24938,0,0,0,36452,0,0,0,23264,0,0,0,35394,0,0,0,44900,0,0,0,4990,0,0,4,778344,0,0,,,,,0,74572,0,0,2,47368,0,0 +17-43091306-G-T,17,43091306,,G,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*25C>A,,c.*25C>A,3_prime_UTR_variant,,,,1,510464,0.000001959002006018054,0,0,,,5.21,,0.00,0.00,0.955,,,0,9198,0,0,0,590,0,0,0,3142,0,0,0,2118,0,0,0,192,0,0,0,1006,0,0,1,467502,0,0,,,,,0,10000,0,0,0,16716,0,0 +17-43091307-T-C,17,43091307,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*24A>G,,c.*24A>G,3_prime_UTR_variant,,,,1,579058,0.0000017269427242176086,0,0,,,7.23,,0.00,0.00,-0.270,,,0,16126,0,0,0,36124,0,0,0,20266,0,0,0,33464,0,0,0,45084,0,0,0,4018,0,0,0,327618,0,0,,,,,1,65098,0,0,0,31260,0,0 +17-43091309-T-G,17,43091309,rs752171726,T,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*22A>C,,c.*22A>C,3_prime_UTR_variant,,,,2,1118040,0.0000017888447640513756,0,0,amr,0.00000896,10.6,,0.00,-0.0100,1.38,,,0,25856,0,0,2,36970,0,0,0,23560,0,0,0,35814,0,0,0,45646,0,0,0,5090,0,0,0,820390,0,0,,,,,0,75798,0,0,0,48916,0,0 +17-43091310-C-A,17,43091310,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*21G>T,,c.*21G>T,3_prime_UTR_variant,,,,1,581904,0.00000171849652176304,0,0,,,6.50,,0.00,0.0100,-0.346,,,0,16170,0,0,0,36454,0,0,0,20288,0,0,0,33634,0,0,0,45570,0,0,0,4028,0,0,1,329034,0,0,,,,,0,65346,0,0,0,31380,0,0 +17-43091313-G-A,17,43091313,rs1472000905,G,A,gnomAD Genomes,NA,PASS,ENST00000354071.7,c.*18C>T,,c.*18C>T,3_prime_UTR_variant,,,,1,152180,0.000006571165724799579,0,0,,,8.87,,0.00,0.00,0.692,,,0,41452,0,0,0,15272,0,0,0,3472,0,0,0,5198,0,0,0,10616,0,0,0,316,0,0,1,68022,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43091315-T-C,17,43091315,rs1374254014,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*16A>G,,c.*16A>G,3_prime_UTR_variant,,,,1,1167746,8.563506104923502e-7,0,0,,,12.0,,0.00,0.00,0.315,,,0,26842,0,0,1,38258,0,0,0,23950,0,0,0,36446,0,0,0,46964,0,0,0,5198,0,0,0,862110,0,0,,,,,0,77416,0,0,0,50562,0,0 +17-43091316-T-A,17,43091316,,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*15A>T,,c.*15A>T,3_prime_UTR_variant,,,,1,1173710,8.519992161607211e-7,0,0,,,9.50,,0.00,0.0100,-0.184,,,0,26958,0,0,0,38458,0,0,0,23986,0,0,0,36560,0,0,0,47230,0,0,0,5206,0,0,1,866888,0,0,,,,,0,77644,0,0,0,50780,0,0 +17-43091316-TAAG-T,17,43091316,rs765266479,TAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*12_*14del,,c.*12_*14del,3_prime_UTR_variant,,,,30,1325934,0.000022625560548262583,0,0,sas,0.00014989,11.7,,0.00,-0.0400,-0.184,,,0,68414,0,0,0,53736,0,0,0,27458,0,0,0,41760,0,0,0,57852,0,0,0,5522,0,0,11,934930,0,0,0,912,0,0,19,82476,0,0,0,52874,0,0 +17-43091318-A-G,17,43091318,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*13T>C,,c.*13T>C,3_prime_UTR_variant,,,,1,588074,0.0000017004662678506447,0,0,,,14.7,,0.00,-0.0100,3.18,,,0,10636,0,0,0,674,0,0,0,3580,0,0,0,2462,0,0,0,218,0,0,0,1162,0,0,1,538514,0,0,,,,,0,11578,0,0,0,19250,0,0 +17-43091321-A-C,17,43091321,,A,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*10T>G,,c.*10T>G,3_prime_UTR_variant,,,,1,1201380,8.323761008173933e-7,0,0,,,15.6,,0.00,0.00,3.10,,,0,27566,0,0,0,39628,0,0,0,24246,0,0,0,37100,0,0,0,48382,0,0,0,5264,0,0,1,888788,0,0,,,,,0,78684,0,0,0,51722,0,0 +17-43091322-G-A,17,43091322,rs773456796,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*9C>T,,c.*9C>T,3_prime_UTR_variant,,,,2,1191108,0.000001679108863344046,0,0,nfe,3.7999999999999996e-7,15.4,,0.00,0.0100,1.15,,,0,27408,0,0,0,39810,0,0,0,24206,0,0,0,37084,0,0,0,48478,0,0,0,5248,0,0,2,878860,0,0,,,,,0,78636,0,0,0,51378,0,0 +17-43091324-A-G,17,43091324,rs1357937223,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*7T>C,,c.*7T>C,3_prime_UTR_variant,,,,2,603010,0.0000033166945821794,0,0,sas,0.00000493,9.13,,0.00,0.00,-0.162,,,0,16790,0,0,0,39652,0,0,0,20634,0,0,0,34828,0,0,0,48824,0,0,0,4100,0,0,0,338704,0,0,,,,,2,67306,0,0,0,32172,0,0 +17-43091325-G-A,17,43091325,,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*6C>T,,c.*6C>T,3_prime_UTR_variant,,,,1,1251022,7.993464543389325e-7,0,0,,,12.3,,0.00,0.00,1.15,,,0,28614,0,0,1,40624,0,0,0,24646,0,0,0,37648,0,0,0,49142,0,0,0,5366,0,0,0,931466,0,0,,,,,0,80164,0,0,0,53352,0,0 +17-43091328-C-G,17,43091328,rs2053462603,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,c.*3G>C,,c.*3G>C,3_prime_UTR_variant,,,,3,1417742,0.0000021160408593383,0,0,,,9.61,,0.00,-0.0100,0.946,,,0,70448,0,0,0,56514,0,0,0,28224,0,0,0,43026,0,0,3,60322,0,0,0,5706,0,0,0,1011036,0,0,0,912,0,0,0,85602,0,0,0,55952,0,0 +17-43091329-C-A,17,43091329,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,c.*2G>T,,c.*2G>T,3_prime_UTR_variant,,,,3,1290660,0.0000023243921714471667,0,0,nfe,8.299999999999999e-7,10.1,,0.00,-0.0100,1.83,,,0,29580,0,0,0,41444,0,0,0,24886,0,0,0,37976,0,0,0,49920,0,0,0,5436,0,0,3,965358,0,0,,,,,0,81382,0,0,0,54678,0,0 +17-43091332-TAACTA-T,17,43091332,rs750547789,TAACTA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1398Ter,p.Tyr1398Ter,c.4194_4198del,frameshift_variant,Benign/Likely benign,1170582,lof_flag,51,1454554,0.0000350622940090227,0,0,eas,0.0008759000000000001,10.3,,0.00,-0.0200,2.81,,,0,71452,0,0,0,57292,0,0,0,28482,0,0,49,43440,0,0,0,60998,0,0,0,5756,0,0,0,1042358,0,0,0,912,0,0,0,86686,0,0,2,57178,0,0 +17-43091332-T-A,17,43091332,,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ter1400LeuextTer25,p.Ter1400LeuextTer25,c.4199A>T,stop_lost,,,,9,1302238,0.000006911179062506239,0,0,nfe,0.00000435,14.4,,0.00,0.00,2.81,,,0,29886,0,0,0,41994,0,0,0,25010,0,0,0,38252,0,0,0,50382,0,0,0,5462,0,0,9,974334,0,0,,,,,0,81856,0,0,0,55062,0,0 +17-43091333-A-T,17,43091333,,A,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ter1400LysextTer25,p.Ter1400LysextTer25,c.4198T>A,stop_lost,,,,1,691582,0.000001445960131987241,0,0,,,12.8,,0.00,-0.0100,0.314,,,0,12780,0,0,0,800,0,0,0,4248,0,0,0,2914,0,0,0,242,0,0,0,1346,0,0,1,632926,0,0,,,,,0,13690,0,0,0,22636,0,0 +17-43091335-C-A,17,43091335,rs751226166,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ser1399Ile,p.Ser1399Ile,c.4196G>T,missense_variant,,,,38,1473100,0.000025795940533568663,0,0,eas,0.0006326000000000002,4.33,,0.00,-0.0100,-1.73,,,0,71728,0,0,0,57818,0,0,0,28598,0,0,37,43580,0,0,0,61462,0,0,0,5804,0,0,0,1058204,0,0,0,910,0,0,0,87272,0,0,1,57724,0,0 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Exomes,PASS,NA,ENST00000354071.7,p.Gln1394His,p.Gln1394His,c.4182A>C,missense_variant,,,,6,1383684,0.000004336250184290633,0,0,nfe,0.0000020700000000000005,13.7,,0.00,0.00,0.364,,,0,31732,0,0,0,43998,0,0,0,25606,0,0,0,39146,0,0,0,52168,0,0,0,5608,0,0,6,1043330,0,0,,,,,0,84268,0,0,0,57828,0,0 +17-43091357-T-C,17,43091357,,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1392Val,p.Ile1392Val,c.4174A>G,missense_variant,,,,2,779918,0.0000025643721519441786,0,0,,,14.0,,0.00,0.00,-0.403,,,0,14622,0,0,0,918,0,0,0,4788,0,0,0,3370,0,0,0,258,0,0,0,1518,0,0,1,713460,0,0,,,,,1,15388,0,0,0,25596,0,0 +17-43091358-G-A,17,43091358,rs1202440692,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.His1391His,p.His1391His,c.4173C>T,synonymous_variant,,,,4,1557442,0.0000025683139404228217,0,0,,,13.1,,0.00,0.0100,0.748,,,0,73658,0,0,0,59656,0,0,0,29220,0,0,0,44560,0,0,2,63246,0,0,0,5970,0,0,1,1129820,0,0,0,912,0,0,0,89768,0,0,1,60632,0,0 +17-43091359-T-A,17,43091359,rs2053463997,T,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.His1391Leu,p.His1391Leu,c.4172A>T,missense_variant,,,,1,626802,0.0000015954001423096927,0,0,,,15.3,,0.00,0.00,0.302,,,0,17632,0,0,0,43496,0,0,0,20950,0,0,0,35992,0,0,0,52470,0,0,0,4144,0,0,1,349480,0,0,,,,,0,69608,0,0,0,33030,0,0 +17-43091360-G-A,17,43091360,rs2154263008,G,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.His1391Tyr,p.His1391Tyr,c.4171C>T,missense_variant,,,,3,781806,0.000003837269092332369,0,0,nfe,0.00000112,14.2,,0.00,0.0100,0.303,,,0,14680,0,0,0,926,0,0,0,4798,0,0,0,3372,0,0,0,264,0,0,0,1516,0,0,3,715176,0,0,,,,,0,15452,0,0,0,25622,0,0 +17-43091361-C-A,17,43091361,,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1390Asp,p.Glu1390Asp,c.4170G>T,missense_variant,,,,1,790728,0.0000012646573790228752,0,0,,,13.3,,0.00,0.0100,0.876,,,0,14886,0,0,0,938,0,0,0,4854,0,0,0,3412,0,0,0,264,0,0,0,1536,0,0,1,723318,0,0,,,,,0,15638,0,0,0,25882,0,0 +17-43091363-C-A,17,43091363,rs1259065363,C,A,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1390Ter,p.Glu1390Ter,c.4168G>T,stop_gained,,,lof_flag,1,627464,0.0000015937169303736947,0,0,,,15.3,,0.00,0.0100,1.40,,,1,17672,0,0,0,43592,0,0,0,20966,0,0,0,36020,0,0,0,52596,0,0,0,4144,0,0,0,349706,0,0,,,,,0,69718,0,0,0,33050,0,0 +17-43091375-A-G,17,43091375,rs755416208,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1386His,p.Tyr1386His,c.4156T>C,missense_variant,,,,3,780616,0.000003843118767742399,0,0,sas,0.00001068,11.6,,0.00,-0.0200,0.419,,,0,59172,0,0,0,58984,0,0,0,24446,0,0,0,41244,0,0,0,63530,0,0,0,4464,0,0,0,418084,0,0,0,912,0,0,3,74610,0,0,0,35170,0,0 +17-43091376-A-G,17,43091376,,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Val1385Val,p.Val1385Val,c.4155T>C,synonymous_variant,,,,1,819704,0.0000012199525682441467,0,0,,,8.90,,0.00,-0.0200,-0.0890,,,0,15496,0,0,0,966,0,0,0,5050,0,0,0,3556,0,0,0,274,0,0,0,1590,0,0,1,749736,0,0,,,,,0,16192,0,0,0,26844,0,0 +17-43091376-A-C,17,43091376,rs2053464496,A,C,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Val1385Val,p.Val1385Val,c.4155T>G,synonymous_variant,,,,2,152246,0.000013136634131602801,0,0,afr,0.00000799,8.63,,0.00,0.00,-0.0890,,,2,41468,0,0,0,15276,0,0,0,3472,0,0,0,5202,0,0,0,10624,0,0,0,316,0,0,0,68048,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43091382-T-C,17,43091382,rs2053464889,T,C,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Leu1383Leu,p.Leu1383Leu,c.4149A>G,synonymous_variant,,,,1,152216,0.0000065696116045619385,0,0,,,14.4,,0.00,-0.0100,-0.174,,,1,41460,0,0,0,15278,0,0,0,3472,0,0,0,5192,0,0,0,10626,0,0,0,316,0,0,0,68044,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 +17-43091385-C-T,17,43091385,rs779599663,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Glu1382Glu,p.Glu1382Glu,c.4146G>A,synonymous_variant,,,,7,1605548,0.000004359882108787778,0,0,nfe,0.00000184,10.5,,0.00,0.0100,-0.0150,,,0,74754,0,0,1,59974,0,0,0,29556,0,0,0,44846,0,0,0,63910,0,0,0,6062,0,0,6,1172442,0,0,0,910,0,0,0,90894,0,0,0,62200,0,0 +17-43091387-C-T,17,43091387,rs1567788876,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Glu1382Lys,p.Glu1382Lys,c.4144G>A,missense_variant,,,,1,628572,0.000001590907644629414,0,0,,,11.8,,0.0300,0.0300,0.788,,,0,17692,0,0,0,43722,0,0,0,20978,0,0,0,36054,0,0,0,53030,0,0,1,4148,0,0,0,350080,0,0,,,,,0,69778,0,0,0,33090,0,0 +17-43091390-T-A,17,43091390,rs1203766203,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ser1381Cys,p.Ser1381Cys,c.4141A>T,missense_variant,,,,3,980578,0.0000030594200563341213,0,0,afr,0.00001393,14.1,,0.00,0.0100,0.774,,,3,57138,0,0,0,16260,0,0,0,8600,0,0,0,8814,0,0,0,10898,0,0,0,1930,0,0,0,825592,0,0,0,912,0,0,0,21190,0,0,0,29244,0,0 +17-43091392-C-T,17,43091392,rs1597859241,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Arg1380Lys,p.Arg1380Lys,c.4139G>A,missense_variant,Likely benign,803414,,1,1457728,6.8599903411336e-7,0,0,,,11.7,,0.00,0.0100,0.505,,,0,33388,0,0,0,44700,0,0,0,26114,0,0,0,39670,0,0,0,53320,0,0,0,5764,0,0,1,1108362,0,0,,,,,0,86156,0,0,0,60254,0,0 +17-43091393-TATAA-T,17,43091393,,TATAA,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Tyr1379GlufsTer4,p.Tyr1379GlufsTer4,c.4134_4137del,frameshift_variant,,,lof_flag,3,628604,0.000004772479971492386,0,0,nfe,0.00000228,11.0,,0.00,-0.0400,0.243,,,0,17694,0,0,0,43722,0,0,0,20980,0,0,0,36056,0,0,0,53056,0,0,0,4148,0,0,3,350088,0,0,,,,,0,69772,0,0,0,33088,0,0 +17-43091394-A-G,17,43091394,rs748228826,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Tyr1379Tyr,p.Tyr1379Tyr,c.4137T>C,synonymous_variant,Likely benign,1176662,,5,1458328,0.000003428583967392795,0,0,,,10.7,,0.0300,-0.0300,-0.157,,,0,33382,0,0,0,44702,0,0,0,26114,0,0,0,39668,0,0,0,53346,0,0,0,5762,0,0,1,1108900,0,0,,,,,0,86168,0,0,4,60286,0,0 +17-43091396-A-G,17,43091396,rs772296606,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Tyr1379His,p.Tyr1379His,c.4135T>C,missense_variant,,,,14,1610622,0.000008692294032988498,0,0,nfe,0.00000292,13.3,,0.0100,-0.0200,0.0390,,,0,74840,0,0,1,59980,0,0,0,29578,0,0,0,44866,0,0,0,63952,0,0,2,6076,0,0,8,1177028,0,0,0,910,0,0,0,91006,0,0,3,62386,0,0 +17-43091398-A-G,17,43091398,rs2154263629,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1378Thr,p.Ile1378Thr,c.4133T>C,missense_variant,,,,2,831004,0.000002406727284104529,0,0,nfe,4.4e-7,12.2,,0.0400,0.0200,1.21,,,0,15726,0,0,0,982,0,0,0,5136,0,0,0,3620,0,0,0,276,0,0,0,1618,0,0,2,759978,0,0,,,,,0,16424,0,0,0,27244,0,0 +17-43091399-T-C,17,43091399,rs45620639,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Ile1378Val,p.Ile1378Val,c.4132A>G,missense_variant,Benign,1325660,,187,1611854,0.00011601547038379407,1,0,afr,0.00115825,0.680,,0.00,0.00,-3.93,,,103,75016,0,0,5,60012,0,0,0,29590,0,0,2,44858,0,0,0,63982,0,0,1,6060,0,0,17,1177976,0,0,0,910,0,0,26,91008,1,0,33,62442,0,0 +17-43091400-A-AGACTG,17,43091400,rs2053466213,A,AGACTG,gnomAD Genomes,NA,PASS,ENST00000354071.7,p.Ile1378SerfsTer8,p.Ile1378SerfsTer8,c.4126_4130dup,frameshift_variant,,,lof_flag,1,152246,0.0000065683170658014006,0,0,,,5.78,,0.00,-0.0300,0.0230,,,0,41474,0,0,0,15284,0,0,0,3468,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,1,2094,0,0 +17-43091403-CTG-C,17,43091403,rs1306379321,CTG,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Gln1376ValfsTer4,p.Gln1376ValfsTer4,c.4126_4127del,frameshift_variant,,,lof_flag,1,628622,0.0000015907811053383433,0,0,,,6.25,,0.00,0.0100,-1.68,,,0,17694,0,0,0,43722,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69756,0,0,0,33086,0,0 +17-43091405-G-A,17,43091405,rs369055904,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Gln1376Ter,p.Gln1376Ter,c.4126C>T,stop_gained,Likely benign,41822,lof_flag,23,1612160,0.000014266574037316396,0,0,amr,0.00001328,8.26,,0.00,0.0200,-0.347,,,0,74880,0,0,3,59968,0,0,17,29592,0,0,0,44876,0,0,0,63954,0,0,0,6084,0,0,1,1178488,0,0,0,910,0,0,0,90998,0,0,2,62410,0,0 +17-43091407-G-A,17,43091407,rs1415468030,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Pro1375Leu,p.Pro1375Leu,c.4124C>T,missense_variant,,,,3,780618,0.00000384310892139305,0,0,,,11.9,,0.0100,0.00,0.902,,,0,59078,0,0,1,58972,0,0,0,24446,0,0,0,41244,0,0,0,63692,0,0,0,4464,0,0,1,418084,0,0,0,910,0,0,0,74552,0,0,1,35176,0,0 +17-43091408-G-A,17,43091408,rs966550945,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000354071.7,p.Pro1375Ser,p.Pro1375Ser,c.4123C>T,missense_variant,Uncertain significance,433709,,4,1613126,0.0000024796575097047594,0,0,nfe,7.899999999999998e-7,12.0,,0.00,0.0100,0.650,,,0,74908,0,0,0,59964,0,0,0,29598,0,0,0,44882,0,0,0,63984,0,0,0,6084,0,0,4,1179320,0,0,0,912,0,0,0,91012,0,0,0,62462,0,0 +17-43091412-A-G,17,43091412,rs2154263897,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Cys1373Cys,p.Cys1373Cys,c.4119T>C,synonymous_variant,,,,1,832930,0.0000012005810812433217,0,0,,,16.8,,0.0400,-0.0300,2.88,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761740,0,0,,,,,0,16454,0,0,0,27294,0,0 +17-43091416-A-C,17,43091416,rs2154263975,A,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Leu1372Trp,p.Leu1372Trp,c.4115T>G,missense_variant,,,,1,832914,0.0000012006041440052635,0,0,,,16.0,,0.110,-0.0700,1.09,,,1,15784,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761718,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43091417-A-G,17,43091417,rs1057523237,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Leu1372Leu,p.Leu1372Leu,c.4114T>C,synonymous_variant,Likely benign,388810,,2,628660,0.0000031813698978780264,0,0,nfe,9.5e-7,10.4,,0.0300,-0.0300,-0.0760,,,0,17692,0,0,0,43728,0,0,0,20982,0,0,0,36064,0,0,0,53126,0,0,0,4148,0,0,2,350082,0,0,,,,,0,69746,0,0,0,33092,0,0 +17-43091420-A-G,17,43091420,rs1567788912,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Phe1371Leu,p.Phe1371Leu,c.4111T>C,missense_variant,Likely benign,628511,,1,628636,0.000001590745677943993,0,0,,,11.6,,0.00,-0.0200,0.613,,,0,17690,0,0,0,43722,0,0,0,20982,0,0,0,36064,0,0,0,53120,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69738,0,0,1,33090,0,0 +17-43091424-GGTTCCA-G,17,43091424,,GGTTCCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4096+5_4096+10del,,c.4096+5_4096+10del,intron_variant,,,,2,833050,0.0000024008162775343618,0,0,nfe,4.4e-7,5.61,,0.0300,-0.0800,-0.0500,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761848,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091428-C-T,17,43091428,rs1060504565,C,T,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Gly1368Glu,p.Gly1368Glu,c.4103G>A,missense_variant,Conflicting interpretations of pathogenicity,415566,,1,1461720,6.841255507210683e-7,0,0,,,5.94,,0.00,0.0400,0.705,,,0,33474,0,0,0,44698,0,0,0,26132,0,0,0,39692,0,0,0,53402,0,0,0,5768,0,0,1,1111954,0,0,,,,,0,86208,0,0,0,60392,0,0 +17-43091430-A-G,17,43091430,rs1555586462,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.4096+5T>C,,c.4096+5T>C,intron_variant,,,,2,833096,0.000002400683714721953,0,0,nfe,4.4e-7,8.62,,0.0100,-0.0300,0.219,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091431-A-G,17,43091431,rs1597859326,A,G,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1367Thr,p.Ile1367Thr,c.4100T>C,missense_variant,Uncertain significance,654538,,1,833102,0.0000012003332124997898,0,0,,,8.97,,0.00,0.0300,-0.0920,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091432-T-C,17,43091432,rs80358015,T,C,gnomAD Exomes,PASS,NA,ENST00000354071.7,p.Ile1367Val,p.Ile1367Val,c.4099A>G,missense_variant,Uncertain significance,37566,,3,1461602,0.0000020525423473695302,0,0,nfe,7.200000000000001e-7,23.9,,0.640,-0.610,6.30,,,0,33464,0,0,0,44668,0,0,0,26130,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,3,1111932,0,0,,,,,0,86162,0,0,0,60380,0,0 +17-43091434-C-T,17,43091434,rs80358178,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.4096+1G>A,,c.4096+1G>A,splice_donor_variant,Uncertain significance,37565,,6,1613864,0.0000037177853895991234,0,0,nfe,0.0000012399999999999998,32.0,,0.690,-0.690,8.82,,,0,74926,0,0,0,59950,0,0,0,29602,0,0,0,44896,0,0,0,64024,0,0,0,6082,0,0,5,1179976,0,0,0,912,0,0,0,91020,0,0,1,62476,0,0 +17-43091436-T-C,17,43091436,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1365Leu,p.Leu1365Leu,c.4095A>G,splice_region_variant,,,,1,833096,0.0000012003418573609765,0,0,,,22.7,,0.370,-0.410,4.69,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43091439-G-A,17,43091439,rs786201566,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1364Asn,p.Asn1364Asn,c.4092C>T,synonymous_variant,Likely benign,184605,,1,628514,0.0000015910544554297915,0,0,,,6.49,,0.0100,0.0100,1.15,,,0,17672,0,0,0,43676,0,0,0,20982,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,1,350052,0,0,,,,,0,69716,0,0,0,33078,0,0 +17-43091440-T-G,17,43091440,rs765156052,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1364Thr,p.Asn1364Thr,c.4091A>C,missense_variant,Conflicting interpretations of pathogenicity,950528,,1,628504,0.0000015910797703753675,0,0,,,23.6,0.457,0.00,0.0200,1.34,0.0100,0.0100,0,17668,0,0,0,43672,0,0,0,20982,0,0,0,36062,0,0,0,53130,0,0,0,4148,0,0,0,350046,0,0,,,,,1,69722,0,0,0,33074,0,0 +17-43091443-G-A,17,43091443,rs398122680,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1363Leu,p.Ser1363Leu,c.4088C>T,missense_variant,Conflicting interpretations of pathogenicity,91622,,23,1461562,0.00001573658866336153,0,0,nfe,0.00001377,22.7,0.458,0.140,-0.150,5.89,0.0900,0.00300,0,33446,0,0,0,44658,0,0,0,26128,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,23,1111942,0,0,,,,,0,86158,0,0,0,60368,0,0 +17-43091443-G-C,17,43091443,rs398122680,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1363Ter,p.Ser1363Ter,c.4088C>G,stop_gained,Pathogenic,254452,lof_flag,1,1461562,6.841995071026751e-7,0,0,,,38.0,,0.110,-0.160,5.89,,,1,33446,0,0,0,44658,0,0,0,26128,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86158,0,0,0,60368,0,0 +17-43091447-C-A,17,43091447,rs775463394,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1362Tyr,p.Asp1362Tyr,c.4084G>T,missense_variant,Conflicting interpretations of pathogenicity,1737655,,2,1461426,0.0000013685263571333752,0,0,nfe,2.999999999999999e-7,23.3,0.557,0.280,-0.240,1.88,0.00,0.556,0,33426,0,0,0,44620,0,0,0,26114,0,0,0,39690,0,0,0,53402,0,0,0,5768,0,0,2,1111904,0,0,,,,,0,86134,0,0,0,60368,0,0 +17-43091447-C-T,17,43091447,rs775463394,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1362Asn,p.Asp1362Asn,c.4084G>A,missense_variant,Conflicting interpretations of pathogenicity,575669,,2,1461426,0.0000013685263571333752,0,0,sas,0.00000385,22.0,0.349,0.190,-0.140,1.88,0.0600,0.255,0,33426,0,0,0,44620,0,0,0,26114,0,0,0,39690,0,0,0,53402,0,0,0,5768,0,0,0,1111904,0,0,,,,,2,86134,0,0,0,60368,0,0 +17-43091448-C-T,17,43091448,rs374192364,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Ile,p.Met1361Ile,c.4083G>A,missense_variant,Conflicting interpretations of pathogenicity,37564,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,15.5,0.308,0.310,-0.270,1.93,0.210,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091449-A-G,17,43091449,rs763596987,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Thr,p.Met1361Thr,c.4082T>C,missense_variant,Conflicting interpretations of pathogenicity,648735,,2,1461488,0.0000013684683008002802,0,0,nfe,2.999999999999999e-7,13.4,0.521,0.00,0.0200,0.307,0.160,0.00,0,33422,0,0,0,44630,0,0,0,26126,0,0,0,39690,0,0,0,53410,0,0,0,5766,0,0,2,1111924,0,0,,,,,0,86154,0,0,0,60366,0,0 +17-43091450-T-C,17,43091450,rs80357218,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1361Val,p.Met1361Val,c.4081A>G,missense_variant,Conflicting interpretations of pathogenicity,185881,,1,1461392,6.842790982843755e-7,0,0,,,0.0190,0.503,0.00,0.0100,-0.148,1.00,0.00,0,33412,0,0,0,44610,0,0,0,26126,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111900,0,0,,,,,0,86122,0,0,0,60360,0,0 +17-43091450-T-G,17,43091450,rs80357218,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1361Leu,p.Met1361Leu,c.4081A>C,missense_variant,Benign,55099,,8,1613610,0.000004957827479998264,0,0,amr,0.000022580000000000004,0.517,0.390,0.00,0.0100,-0.148,0.240,0.00,0,74864,0,0,4,59896,0,0,2,29598,0,0,0,44884,0,0,0,64028,0,0,0,6084,0,0,2,1179942,0,0,0,912,0,0,0,90952,0,0,0,62450,0,0 +17-43091451-G-A,17,43091451,rs2053471401,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1360Ser,p.Ser1360Ser,c.4080C>T,synonymous_variant,Likely benign,1737629,,1,833100,0.0000012003360941063497,0,0,,,6.85,,0.310,0.290,-0.114,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091456-G-T,17,43091456,rs80357456,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1359Lys,p.Gln1359Lys,c.4075C>A,missense_variant,Conflicting interpretations of pathogenicity,801073,,1,628254,0.0000015917129059265838,0,0,,,22.8,0.460,0.00,0.00,4.65,0.0100,0.0240,0,17618,0,0,1,43618,0,0,0,20974,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,0,349974,0,0,,,,,0,69666,0,0,0,33066,0,0 +17-43091458-T-C,17,43091458,rs397507225,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1358Gly,p.Glu1358Gly,c.4073A>G,missense_variant,Conflicting interpretations of pathogenicity,37562,,4,1613552,0.000002479002845895267,0,0,nfe,7.899999999999998e-7,21.1,0.402,0.180,-0.150,2.95,0.360,0.0570,0,74856,0,0,0,59872,0,0,0,29590,0,0,0,44894,0,0,0,64034,0,0,0,6084,0,0,4,1179890,0,0,0,912,0,0,0,90966,0,0,0,62454,0,0 +17-43091460-T-C,17,43091460,rs786201475,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1357Glu,p.Glu1357Glu,c.4071A>G,synonymous_variant,Likely benign,184458,,6,1461284,0.000004105978030280219,0,0,nfe,0.00000194,8.15,,0.0300,-0.0100,0.262,,,0,33390,0,0,0,44582,0,0,0,26122,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,6,1111834,0,0,,,,,0,86134,0,0,0,60356,0,0 +17-43091462-CTTGA-C,17,43091462,rs80357508,CTTGA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1355LysfsTer10,p.Asn1355LysfsTer10,c.4065_4068del,frameshift_variant,Pathogenic,17674,lof_flag,53,1613548,0.000032846869135594356,0,0,nfe,0.00003179,32.0,,0.140,-0.0900,2.60,,,0,74846,0,0,0,59876,0,0,0,29590,0,0,1,44886,0,0,0,64028,0,0,0,6082,0,0,49,1179898,0,0,0,912,0,0,3,90982,0,0,0,62448,0,0 +17-43091463-T-C,17,43091463,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1356Gln,p.Gln1356Gln,c.4068A>G,synonymous_variant,,,,3,833026,0.000003601328169829033,0,0,nfe,0.00000105,9.28,,0.140,-0.100,-0.460,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761820,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091464-T-G,17,43091464,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1356Pro,p.Gln1356Pro,c.4067A>C,missense_variant,,,,1,628206,0.000001591834525617393,0,0,,,22.7,0.617,0.0400,-0.0200,0.0550,0.0100,0.00,0,17596,0,0,0,43608,0,0,0,20972,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,349936,0,0,,,,,0,69688,0,0,0,33064,0,0 +17-43091465-GATT-G,17,43091465,rs80358341,GATT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355del,p.Asn1355del,c.4063_4065del,inframe_deletion,Conflicting interpretations of pathogenicity,55093,,6,1461216,0.000004106169108468563,0,0,nfe,0.0000013199999999999999,8.42,,0.00,0.0300,-0.613,,,0,33386,0,0,0,44582,0,0,0,26126,0,0,0,39690,0,0,0,53412,0,0,0,5768,0,0,5,1111754,0,0,,,,,0,86138,0,0,1,60360,0,0 +17-43091466-A-G,17,43091466,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355Asn,p.Asn1355Asn,c.4065T>C,synonymous_variant,,,,2,628178,0.0000031838109580405556,0,0,,,5.43,,0.00,0.0100,0.175,,,0,17598,0,0,0,43606,0,0,0,20972,0,0,1,36062,0,0,0,53136,0,0,0,4146,0,0,0,349920,0,0,,,,,1,69674,0,0,0,33064,0,0 +17-43091468-T-C,17,43091468,rs876660530,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1355Asp,p.Asn1355Asp,c.4063A>G,missense_variant,Conflicting interpretations of pathogenicity,233624,,1,833102,0.0000012003332124997898,0,0,,,11.8,0.431,0.0200,0.0200,0.107,0.260,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761898,0,0,,,,,1,16460,0,0,0,27296,0,0 +17-43091469-A-T,17,43091469,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1354Lys,p.Asn1354Lys,c.4062T>A,missense_variant,,,,1,628162,0.000001591946026661912,0,0,,,16.9,0.409,0.00,0.0100,0.280,0.0100,0.00600,0,17594,0,0,0,43602,0,0,0,20972,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,1,349874,0,0,,,,,0,69712,0,0,0,33066,0,0 +17-43091471-T-C,17,43091471,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1354Asp,p.Asn1354Asp,c.4060A>G,missense_variant,,,,1,628150,0.0000015919764387487064,0,0,,,7.91,0.330,0.0400,0.0400,3.26,1.00,0.00,0,17594,0,0,0,43608,0,0,0,20968,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,1,349878,0,0,,,,,0,69702,0,0,0,33054,0,0 +17-43091474-C-A,17,43091474,rs80357178,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1353Ter,p.Glu1353Ter,c.4057G>T,stop_gained,Pathogenic,55090,lof_flag,1,1461202,6.843680750505405e-7,0,0,,,38.0,,0.300,-0.420,4.72,,,0,33382,0,0,0,44586,0,0,0,26122,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,1,1111708,0,0,,,,,0,86174,0,0,0,60362,0,0 +17-43091474-C-T,17,43091474,rs80357178,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1353Lys,p.Glu1353Lys,c.4057G>A,missense_variant,Conflicting interpretations of pathogenicity,655565,,1,1461202,6.843680750505405e-7,0,0,,,23.5,0.506,0.170,-0.130,4.72,0.00,0.214,0,33382,0,0,0,44586,0,0,0,26122,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,0,1111708,0,0,,,,,0,86174,0,0,1,60362,0,0 +17-43091477-C-G,17,43091477,rs80357202,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1352Gln,p.Glu1352Gln,c.4054G>C,missense_variant,Conflicting interpretations of pathogenicity,481150,,1,1461290,6.843268618823094e-7,0,0,,,22.4,0.330,0.100,-0.0700,4.11,0.130,0.0460,0,33396,0,0,0,44608,0,0,0,26126,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111724,0,0,,,,,0,86202,0,0,0,60370,0,0 +17-43091477-C-T,17,43091477,rs80357202,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1352Lys,p.Glu1352Lys,c.4054G>A,missense_variant,Conflicting interpretations of pathogenicity,55089,,4,1461290,0.0000027373074475292377,0,0,nfe,8.4e-7,24.1,0.393,0.110,-0.0800,4.11,0.00,0.366,0,33396,0,0,0,44608,0,0,0,26126,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,4,1111724,0,0,,,,,0,86202,0,0,0,60370,0,0 +17-43091479-A-G,17,43091479,rs397509132,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1351Ser,p.Leu1351Ser,c.4052T>C,missense_variant,,,,1,628126,0.0000015920372664083322,0,0,,,20.8,0.554,0.0100,0.0300,1.37,0.00,0.0380,0,17604,0,0,0,43614,0,0,0,20974,0,0,0,36056,0,0,0,53140,0,0,0,4146,0,0,0,349786,0,0,,,,,1,69740,0,0,0,33066,0,0 +17-43091480-A-G,17,43091480,rs139858874,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1351Leu,p.Leu1351Leu,c.4051T>C,synonymous_variant,Likely benign,427347,,1,152198,0.000006570388572780194,0,0,,,2.84,,0.0100,0.0100,1.13,,,1,41442,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43091481-G-C,17,43091481,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Gly,p.Gly1350Gly,c.4050C>G,synonymous_variant,Likely benign,1737364,,1,1461264,6.84339037983554e-7,0,0,,,2.17,,0.160,-0.120,1.51,,,1,33400,0,0,0,44626,0,0,0,26126,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,0,1111664,0,0,,,,,0,86214,0,0,0,60370,0,0 +17-43091481-G-A,17,43091481,rs779507799,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Gly,p.Gly1350Gly,c.4050C>T,synonymous_variant,Likely benign,427308,,3,1461264,0.0000020530171139506617,0,0,eas,0.00002004,1.41,,0.0700,-0.0600,1.51,,,0,33400,0,0,0,44626,0,0,0,26126,0,0,3,39686,0,0,0,53412,0,0,0,5766,0,0,0,1111664,0,0,,,,,0,86214,0,0,0,60370,0,0 +17-43091482-C-T,17,43091482,rs1433564897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Asp,p.Gly1350Asp,c.4049G>A,missense_variant,,,,1,628130,0.0000015920271281422635,0,0,,,0.193,0.541,0.0300,0.0500,0.434,0.560,0.00,0,17614,0,0,0,43640,0,0,0,20972,0,0,0,36054,0,0,0,53134,0,0,0,4146,0,0,1,349740,0,0,,,,,0,69762,0,0,0,33068,0,0 +17-43091483-C-A,17,43091483,rs748674194,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Cys,p.Gly1350Cys,c.4048G>T,missense_variant,Conflicting interpretations of pathogenicity,231563,,5,1461206,0.0000034218310080851025,0,0,eas,0.00004907999999999998,2.48,0.507,0.0100,0.0200,0.371,0.290,0.319,0,33402,0,0,0,44620,0,0,0,26124,0,0,5,39686,0,0,0,53410,0,0,0,5766,0,0,0,1111628,0,0,,,,,0,86208,0,0,0,60362,0,0 +17-43091483-C-T,17,43091483,rs748674194,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1350Ser,p.Gly1350Ser,c.4048G>A,missense_variant,Conflicting interpretations of pathogenicity,1376445,,1,1461206,6.843662016170205e-7,0,0,,,0.776,0.551,0.0100,0.0200,0.371,0.510,0.00300,0,33402,0,0,0,44620,0,0,0,26124,0,0,1,39686,0,0,0,53410,0,0,0,5766,0,0,0,1111628,0,0,,,,,0,86208,0,0,0,60362,0,0 +17-43091484-C-G,17,43091484,rs758515222,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Thr,p.Thr1349Thr,c.4047G>C,synonymous_variant,,,,2,1613412,0.0000012396089777440604,0,0,,,0.182,,0.0300,0.0600,-0.582,,,0,74866,0,0,0,59886,0,0,0,29592,0,0,0,44882,0,0,0,64032,0,0,0,6082,0,0,0,1179654,0,0,0,912,0,0,2,91046,0,0,0,62460,0,0 +17-43091484-C-T,17,43091484,rs758515222,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Thr,p.Thr1349Thr,c.4047G>A,synonymous_variant,Likely benign,219948,,9,1613412,0.000005578240399848272,0,0,amr,0.0000133,0.210,,0.00,-0.0400,-0.582,,,1,74866,0,0,3,59886,0,0,0,29592,0,0,0,44882,0,0,0,64032,0,0,0,6082,0,0,4,1179654,0,0,0,912,0,0,1,91046,0,0,0,62460,0,0 +17-43091485-G-C,17,43091485,rs80357345,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1349Arg,p.Thr1349Arg,c.4046C>G,missense_variant,Conflicting interpretations of pathogenicity,462629,,5,1461180,0.0000034218918955912347,0,0,nfe,0.0000013199999999999999,5.89,0.551,0.180,-0.140,-0.0690,0.0600,0.0760,0,33398,0,0,0,44622,0,0,0,26122,0,0,0,39684,0,0,0,53408,0,0,0,5766,0,0,5,1111590,0,0,,,,,0,86220,0,0,0,60370,0,0 +17-43091485-G-A,17,43091485,rs80357345,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Met,p.Thr1349Met,c.4046C>T,missense_variant,Benign,55085,,36,1613400,0.000022313127556712532,0,0,afr,0.00011207999999999998,15.0,0.434,0.0700,-0.0600,-0.0690,0.0400,0.107,14,74926,0,0,0,59904,0,0,0,29592,0,0,0,44870,0,0,0,64000,0,0,0,6060,0,0,11,1179612,0,0,0,912,0,0,6,91042,0,0,5,62482,0,0 +17-43091486-T-C,17,43091486,rs80357231,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1349Ala,p.Thr1349Ala,c.4045A>G,missense_variant,Conflicting interpretations of pathogenicity,462628,,1,1461176,6.843802526184389e-7,0,0,,,0.0340,0.465,0.0100,-0.0100,-2.73,0.420,0.00100,0,33394,0,0,0,44616,0,0,0,26122,0,0,0,39684,0,0,0,53406,0,0,0,5766,0,0,1,1111594,0,0,,,,,0,86224,0,0,0,60370,0,0 +17-43091486-T-G,17,43091486,rs80357231,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1349Pro,p.Thr1349Pro,c.4045A>C,missense_variant,Conflicting interpretations of pathogenicity,55084,,27,1613404,0.000016734804177998816,0,0,nfe,6.800000000000001e-7,0.0770,0.491,0.0100,0.0200,-2.73,0.350,0.00,0,74852,0,0,0,59904,0,0,0,29590,0,0,0,44882,0,0,21,64032,0,0,1,6082,0,0,3,1179636,0,0,0,912,0,0,1,91054,0,0,1,62460,0,0 +17-43091488-CCT-C,17,43091488,rs80357727,CCT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1348AsnfsTer7,p.Gly1348AsnfsTer7,c.4041_4042del,frameshift_variant,Pathogenic,55082,lof_flag,1,152214,0.0000065696979252893955,0,0,,,24.4,,0.00,-0.190,1.50,,,1,41456,0,0,0,15284,0,0,0,3472,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43091490-T-C,17,43091490,rs2053479978,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Arg,p.Arg1347Arg,c.4041A>G,synonymous_variant,,,,1,833104,0.0000012003303309070656,0,0,,,5.96,,0.00,-0.140,2.42,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091491-C-T,17,43091491,rs80357210,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Lys,p.Arg1347Lys,c.4040G>A,missense_variant,Conflicting interpretations of pathogenicity,55081,,2,1461172,0.0000013687642522577765,0,0,,,16.8,0.575,0.00,0.0100,2.14,0.0300,0.0240,1,33400,0,0,0,44630,0,0,0,26122,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,1,1111568,0,0,,,,,0,86224,0,0,0,60364,0,0 +17-43091492-T-C,17,43091492,rs28897689,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1347Gly,p.Arg1347Gly,c.4039A>G,missense_variant,Benign,41821,,9320,1613538,0.005776126747557232,40,0,nfe,0.0070612,22.2,0.527,0.0100,0.0100,1.01,0.0900,0.0710,92,74984,0,0,124,59938,0,0,31,29594,0,0,0,44874,0,0,151,64030,2,0,2,6060,0,0,8481,1179610,35,0,30,912,1,0,93,91060,2,0,316,62476,0,0 +17-43091492-T-A,17,43091492,rs28897689,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1347Ter,p.Arg1347Ter,c.4039A>T,stop_gained,Pathogenic,531295,lof_flag,1,1461176,6.843802526184389e-7,0,0,,,35.0,,0.00,-0.180,1.01,,,0,33398,0,0,0,44628,0,0,0,26122,0,0,0,39686,0,0,0,53406,0,0,0,5766,0,0,0,1111578,0,0,,,,,1,86228,0,0,0,60364,0,0 +17-43091494-T-C,17,43091494,rs2053481117,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1346Gly,p.Glu1346Gly,c.4037A>G,missense_variant,Conflicting interpretations of pathogenicity,1022374,,1,833102,0.0000012003332124997898,0,0,,,24.4,0.500,0.00,-0.0300,2.89,0.00,0.0530,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091495-C-T,17,43091495,rs80357407,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1346Lys,p.Glu1346Lys,c.4036G>A,missense_variant,Benign/Likely benign,37561,,69,1613396,0.000042766933846371254,0,0,nfe,0.00004537,21.7,0.546,0.00,-0.0700,3.60,0.0400,0.00300,0,74870,0,0,0,59914,0,0,0,29600,0,0,0,44884,0,0,0,64016,0,0,0,6082,0,0,67,1179598,0,0,0,912,0,0,0,91062,0,0,2,62458,0,0 +17-43091495-CT-C,17,43091495,rs80357711,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1346LysfsTer20,p.Glu1346LysfsTer20,c.4035del,frameshift_variant,Pathogenic,37560,lof_flag,18,1613396,0.000011156591438183806,0,0,nfe,0.00000878,20.5,,0.00,-0.260,3.60,,,0,74870,0,0,0,59914,0,0,0,29600,0,0,0,44884,0,0,0,64016,0,0,0,6082,0,0,17,1179598,0,0,0,912,0,0,0,91062,0,0,1,62458,0,0 +17-43091497-T-C,17,43091497,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1345Gly,p.Glu1345Gly,c.4034A>G,missense_variant,,,,1,628086,0.0000015921386561712887,0,0,,,23.7,0.467,0.00,-0.0800,4.18,0.0500,0.150,0,17618,0,0,0,43646,0,0,0,20976,0,0,0,36054,0,0,0,53136,0,0,0,4146,0,0,1,349678,0,0,,,,,0,69764,0,0,0,33068,0,0 +17-43091499-A-T,17,43091499,rs769589630,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1344Glu,p.Asp1344Glu,c.4032T>A,missense_variant,Conflicting interpretations of pathogenicity,917791,,2,628094,0.000003184236754371161,0,0,nfe,9.5e-7,17.5,0.497,0.00,0.0200,0.200,0.0400,0.00,0,17620,0,0,0,43650,0,0,0,20976,0,0,0,36056,0,0,0,53134,0,0,0,4146,0,0,2,349676,0,0,,,,,0,69768,0,0,0,33068,0,0 +17-43091500-T-C,17,43091500,rs55639854,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1344Gly,p.Asp1344Gly,c.4031A>G,missense_variant,Conflicting interpretations of pathogenicity,55077,,4,1613426,0.0000024791964428489438,0,0,nfe,7.899999999999998e-7,23.8,0.471,0.00,-0.0500,1.25,0.0400,0.150,0,74874,0,0,0,59916,0,0,0,29598,0,0,0,44884,0,0,0,64032,0,0,0,6082,0,0,4,1179612,0,0,0,912,0,0,0,91054,0,0,0,62462,0,0 +17-43091503-T-A,17,43091503,rs775339017,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1343Val,p.Asp1343Val,c.4028A>T,missense_variant,Conflicting interpretations of pathogenicity,409318,,2,780568,0.0000025622367301759743,0,0,,,21.7,0.575,0.00,-0.0500,0.113,0.00,0.946,0,59112,0,0,2,58982,0,0,0,24448,0,0,0,41258,0,0,0,63764,0,0,0,4462,0,0,0,417838,0,0,0,912,0,0,0,74622,0,0,0,35170,0,0 +17-43091505-T-G,17,43091505,rs80356828,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1342Ser,p.Ser1342Ser,c.4026A>C,synonymous_variant,Likely benign,427262,,5,1613810,0.0000030982581592628623,0,0,,,6.49,,0.00,0.0900,0.0150,,,2,75026,0,0,0,59988,0,0,0,29598,0,0,0,44880,0,0,0,64034,0,0,3,6060,0,0,0,1179744,0,0,0,912,0,0,0,91078,0,0,0,62490,0,0 +17-43091505-T-C,17,43091505,rs80356828,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1342Ser,p.Ser1342Ser,c.4026A>G,synonymous_variant,Likely benign,55076,,2,1461422,0.0000013685301028724078,0,0,nfe,2.999999999999999e-7,6.81,,0.00,0.0800,0.0150,,,0,33432,0,0,0,44678,0,0,0,26126,0,0,0,39686,0,0,0,53412,0,0,0,5766,0,0,2,1111704,0,0,,,,,0,86244,0,0,0,60374,0,0 +17-43091510-C-T,17,43091510,rs762908108,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1341Ile,p.Val1341Ile,c.4021G>A,missense_variant,Conflicting interpretations of pathogenicity,479257,,2,628402,0.0000031826760576828207,0,0,nfe,9.5e-7,2.80,0.529,0.00,0.0200,0.322,0.490,0.0430,0,17656,0,0,0,43698,0,0,0,20978,0,0,0,36058,0,0,0,53136,0,0,0,4146,0,0,2,349860,0,0,,,,,0,69784,0,0,0,33086,0,0 +17-43091511-C-A,17,43091511,rs1555586637,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1340Phe,p.Leu1340Phe,c.4020G>T,missense_variant,Conflicting interpretations of pathogenicity,441310,,1,833102,0.0000012003332124997898,0,0,,,16.9,0.550,0.270,0.190,0.999,0.0500,0.143,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091513-A-G,17,43091513,rs786201646,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1340Leu,p.Leu1340Leu,c.4018T>C,synonymous_variant,Likely benign,184728,,1,628444,0.0000015912316769672397,0,0,,,1.38,,0.00,0.0500,0.0610,,,0,17660,0,0,1,43708,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,0,349876,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43091516-C-T,17,43091516,rs80357021,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1339Lys,p.Glu1339Lys,c.4015G>A,missense_variant,Conflicting interpretations of pathogenicity,182157,,1,628444,0.0000015912316769672397,0,0,,,18.0,0.536,0.0200,0.0300,4.84,0.0800,0.0620,0,17664,0,0,0,43708,0,0,0,20976,0,0,0,36058,0,0,0,53134,0,0,0,4146,0,0,1,349874,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43091516-C-A,17,43091516,rs80357021,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1339Ter,p.Glu1339Ter,c.4015G>T,stop_gained,Pathogenic,37559,lof_flag,1,628444,0.0000015912316769672397,0,0,,,36.0,,0.0400,-0.230,4.84,,,0,17664,0,0,1,43708,0,0,0,20976,0,0,0,36058,0,0,0,53134,0,0,0,4146,0,0,0,349874,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43091520-G-A,17,43091520,rs80356886,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1337Asp,p.Asp1337Asp,c.4011C>T,synonymous_variant,Likely benign,928040,,4,1461590,0.0000027367455989709835,0,0,afr,0.00002376,4.92,,0.00,-0.0800,0.197,,,3,33452,0,0,0,44698,0,0,0,26130,0,0,0,39688,0,0,0,53412,0,0,0,5766,0,0,0,1111802,0,0,,,,,0,86248,0,0,1,60394,0,0 +17-43091522-CACTCAGACCA-C,17,43091522,rs754792932,CACTCAGACCA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1334ThrfsTer29,p.Gly1334ThrfsTer29,c.3999_4008del,frameshift_variant,Pathogenic,254448,lof_flag,1,628526,0.000001591024078558405,0,0,,,31.0,,0.00,-0.140,5.96,,,0,17672,0,0,0,43716,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,1,349932,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43091522-C-A,17,43091522,rs886041144,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1337Tyr,p.Asp1337Tyr,c.4009G>T,missense_variant,Uncertain significance,2580697,,1,628526,0.000001591024078558405,0,0,,,24.0,0.595,0.00,-0.0400,5.96,0.00,0.254,0,17672,0,0,1,43716,0,0,0,20978,0,0,0,36058,0,0,0,53138,0,0,0,4146,0,0,0,349932,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43091525-T-A,17,43091525,rs976725810,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1336Cys,p.Ser1336Cys,c.4006A>T,missense_variant,Conflicting interpretations of pathogenicity,489719,,14,1613904,0.000008674617573288126,0,0,nfe,0.00000542,24.5,0.465,0.00,-0.0400,2.90,0.00,0.408,0,74912,0,0,0,60000,0,0,0,29602,0,0,0,44894,0,0,0,64038,0,0,0,6080,0,0,12,1179888,0,0,0,912,0,0,0,91090,0,0,2,62488,0,0 +17-43091533-A-G,17,43091533,rs1135401872,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1333Ala,p.Val1333Ala,c.3998T>C,missense_variant,Conflicting interpretations of pathogenicity,431258,,3,780828,0.000003842075335413177,0,0,nfe,8e-7,7.62,0.547,0.00,0.0400,0.276,0.560,0.164,1,59114,0,0,0,59000,0,0,0,24448,0,0,0,41256,0,0,0,63746,0,0,0,4464,0,0,2,418082,0,0,0,912,0,0,0,74624,0,0,0,35182,0,0 +17-43091536-C-A,17,43091536,rs730881490,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1332Val,p.Gly1332Val,c.3995G>T,missense_variant,Conflicting interpretations of pathogenicity,182156,,10,1614060,0.000006195556546844603,0,0,sas,0.00003586999999999999,18.4,0.498,0.0100,-0.0700,1.88,0.0200,0.0150,0,74938,0,0,0,60002,0,0,0,29604,0,0,0,44898,0,0,0,64032,0,0,0,6084,0,0,3,1180012,0,0,0,912,0,0,7,91090,0,0,0,62488,0,0 +17-43091539-T-C,17,43091539,rs1060502363,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1331Arg,p.Gln1331Arg,c.3992A>G,missense_variant,Conflicting interpretations of pathogenicity,409366,,5,628752,0.00000795226098684378,0,0,sas,0.000027920000000000004,15.2,0.529,0.00,0.100,2.26,0.150,0.0240,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,0,350090,0,0,,,,,5,69798,0,0,0,33098,0,0 +17-43091541-G-C,17,43091541,rs876660808,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Arg,p.Ser1330Arg,c.3990C>G,missense_variant,Conflicting interpretations of pathogenicity,1464112,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,16.6,0.518,0.00,-0.100,0.508,0.0600,0.0790,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091542-C-T,17,43091542,rs773709174,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Asn,p.Ser1330Asn,c.3989G>A,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,0.327,0.255,0.0100,0.0500,-0.468,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091543-T-A,17,43091543,rs1555586688,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1330Cys,p.Ser1330Cys,c.3988A>T,missense_variant,Conflicting interpretations of pathogenicity,462627,,2,1461872,0.000001368108835794105,0,0,,,22.4,0.411,0.00,0.0100,1.06,0.0100,0.527,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43091551-T-C,17,43091551,rs730881444,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1327Arg,p.Gln1327Arg,c.3980A>G,missense_variant,Conflicting interpretations of pathogenicity,182079,,1,628764,0.0000015904218434897671,0,0,,,15.8,0.522,0.00,0.0600,0.328,0.330,0.702,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091552-G-A,17,43091552,rs876659720,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1327Ter,p.Gln1327Ter,c.3979C>T,stop_gained,Pathogenic,232360,lof_flag,1,833106,0.0000012003274493281767,0,0,,,35.0,,0.0200,-0.390,3.33,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091555-G-A,17,43091555,rs1567789376,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1326Tyr,p.His1326Tyr,c.3976C>T,missense_variant,Conflicting interpretations of pathogenicity,572521,,1,628766,0.0000015904167846225783,0,0,,,2.52,0.511,0.0200,-0.0900,-0.329,0.150,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091556-C-A,17,43091556,rs761424661,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1325Ser,p.Arg1325Ser,c.3975G>T,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,5.14,0.529,0.00,0.0500,-0.408,0.460,0.130,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091556-C-T,17,43091556,rs761424661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1325Arg,p.Arg1325Arg,c.3975G>A,synonymous_variant,Likely benign,415574,,4,1461876,0.0000027362101847215495,0,0,eas,0.00000835,2.98,,0.00,0.0600,-0.408,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53414,0,0,0,5768,0,0,1,1112006,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43091561-T-G,17,43091561,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1324Leu,p.Met1324Leu,c.3970A>C,missense_variant,,,,1,628766,0.0000015904167846225783,0,0,,,5.00,0.382,0.00,0.0700,-0.0570,0.270,0.00100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091564-G-A,17,43091564,rs80357262,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1323Ter,p.Gln1323Ter,c.3967C>T,stop_gained,Pathogenic,55062,lof_flag,1,628764,0.0000015904218434897671,0,0,,,36.0,,0.00,-0.230,5.59,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091566-T-C,17,43091566,rs80357042,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1322Arg,p.Lys1322Arg,c.3965A>G,missense_variant,Conflicting interpretations of pathogenicity,481448,,3,628766,0.000004771250353867735,0,0,nfe,9.5e-7,24.7,0.497,0.490,0.360,2.31,0.0500,0.346,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,2,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091566-T-G,17,43091566,rs80357042,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1322Thr,p.Lys1322Thr,c.3965A>C,missense_variant,Conflicting interpretations of pathogenicity,185202,,1,152214,0.0000065696979252893955,0,0,,,24.0,0.507,0.00,-0.0200,2.31,,,0,41448,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10630,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43091567-T-G,17,43091567,rs80357343,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1322Gln,p.Lys1322Gln,c.3964A>C,missense_variant,Conflicting interpretations of pathogenicity,231080,,1,152226,0.000006569180034948038,0,0,,,19.9,0.517,0.00,-0.0200,0.552,,,1,41460,0,0,0,15280,0,0,0,3470,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43091567-T-C,17,43091567,rs80357343,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1322Glu,p.Lys1322Glu,c.3964A>G,missense_variant,Conflicting interpretations of pathogenicity,232294,,4,1461878,0.0000027362064413035835,0,0,nfe,8.4e-7,20.5,0.526,0.00,0.0700,0.552,0.160,0.0180,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,4,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091569-G-A,17,43091569,rs386833394,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Phe,p.Ser1321Phe,c.3962C>T,missense_variant,Conflicting interpretations of pathogenicity,1310290,,1,628766,0.0000015904167846225783,0,0,,,24.6,0.508,0.00,-0.0800,6.99,0.00,0.862,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091569-G-C,17,43091569,rs386833394,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Cys,p.Ser1321Cys,c.3962C>G,missense_variant,Conflicting interpretations of pathogenicity,41820,,1,628766,0.0000015904167846225783,0,0,,,24.7,0.505,0.00,-0.0700,6.99,0.0900,0.894,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091569-G-T,17,43091569,rs386833394,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1321Tyr,p.Ser1321Tyr,c.3962C>A,missense_variant,Conflicting interpretations of pathogenicity,142790,,7,628766,0.000011132917492358048,0,0,nfe,0.00000931,24.5,0.549,0.00,-0.0800,6.99,0.00,0.809,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,7,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091572-G-C,17,43091572,rs2053494663,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1320Cys,p.Ser1320Cys,c.3959C>G,missense_variant,Conflicting interpretations of pathogenicity,1042860,,1,628762,0.0000015904269023891392,0,0,,,15.5,0.498,0.00,-0.0500,1.81,0.120,0.408,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091575-C-T,17,43091575,rs587782634,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1319Asp,p.Gly1319Asp,c.3956G>A,missense_variant,Conflicting interpretations of pathogenicity,142673,,1,152178,0.000006571252086372537,0,0,,,2.80,0.498,0.00,0.0500,-0.138,,,1,41440,0,0,0,15272,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 +17-43091577-A-C,17,43091577,rs750107618,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1318Met,p.Ile1318Met,c.3954T>G,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,4.17,0.596,0.00,-0.0200,-1.09,1.00,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091578-A-G,17,43091578,rs1388475291,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1318Thr,p.Ile1318Thr,c.3953T>C,missense_variant,Conflicting interpretations of pathogenicity,481166,,1,628770,0.000001590406666984748,0,0,,,20.7,0.513,0.00,0.0400,1.50,0.0100,0.0190,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091580-C-T,17,43091580,rs1060504566,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1317Leu,p.Leu1317Leu,c.3951G>A,synonymous_variant,Likely benign,415568,,1,152190,0.000006570733950982325,0,0,,,5.12,,0.00,-0.0700,0.762,,,1,41440,0,0,0,15266,0,0,0,3472,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43091583-G-A,17,43091583,rs2154275470,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1316Phe,p.Phe1316Phe,c.3948C>T,synonymous_variant,Likely benign,1130505,,1,628760,0.0000015904319613206948,0,0,,,6.74,,0.00,-0.0400,0.961,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,1,33096,0,0 +17-43091587-G-C,17,43091587,rs80357500,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1315Arg,p.Pro1315Arg,c.3944C>G,missense_variant,Conflicting interpretations of pathogenicity,96921,,2,780974,0.0000025609047164182162,0,0,,,22.7,0.438,0.0400,0.0400,1.58,0.0100,0.493,1,59150,0,0,0,59014,0,0,0,24454,0,0,0,41258,0,0,0,63760,0,0,0,4464,0,0,1,418144,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 +17-43091593-T-C,17,43091593,rs765729710,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Arg,p.Gln1313Arg,c.3938A>G,missense_variant,Conflicting interpretations of pathogenicity,440470,,4,1461874,0.0000027362139281497583,0,0,nfe,7.200000000000001e-7,22.6,0.536,0.0900,0.0500,0.982,0.110,0.622,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,3,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43091594-G-C,17,43091594,rs80357318,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Glu,p.Gln1313Glu,c.3937C>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,22.4,0.519,0.150,0.110,7.00,0.140,0.275,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091594-G-A,17,43091594,rs80357318,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1313Ter,p.Gln1313Ter,c.3937C>T,stop_gained,Pathogenic,37556,lof_flag,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,36.0,,0.00,-0.210,7.00,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091595-G-A,17,43091595,rs753210219,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1312Thr,p.Thr1312Thr,c.3936C>T,synonymous_variant,Likely benign,427364,,1,628760,0.0000015904319613206948,0,0,,,6.66,,0.00,-0.0400,0.479,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69798,0,0,0,33096,0,0 +17-43091602-G-A,17,43091602,rs80357257,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1310Ile,p.Thr1310Ile,c.3929C>T,missense_variant,Conflicting interpretations of pathogenicity,409324,,3,1461870,0.0000020521660612776786,0,0,eas,0.00000835,23.4,0.463,0.00,-0.0200,3.41,0.0100,0.493,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53410,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43091602-G-T,17,43091602,rs80357257,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1310Lys,p.Thr1310Lys,c.3929C>A,missense_variant,Conflicting interpretations of pathogenicity,55053,,63,1614078,0.00003903157096497195,1,0,amr,0.0006486200000000003,18.8,0.535,0.00,0.00,3.41,0.0700,0.366,0,74932,0,0,50,60004,1,0,0,29604,0,0,0,44896,0,0,0,64026,0,0,0,6084,0,0,11,1180042,0,0,0,912,0,0,0,91094,0,0,2,62484,0,0 +17-43091603-T-A,17,43091603,rs2053499046,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1310Ser,p.Thr1310Ser,c.3928A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,14.2,0.552,0.00,0.0200,-0.562,0.120,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091604-A-G,17,43091604,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Asn,p.Asn1309Asn,c.3927T>C,synonymous_variant,,,,1,628764,0.0000015904218434897671,0,0,,,7.91,,0.0400,-0.0200,-0.153,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091605-T-C,17,43091605,rs2053499342,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Ser,p.Asn1309Ser,c.3926A>G,missense_variant,Conflicting interpretations of pathogenicity,942423,,1,833110,0.0000012003216862119048,0,0,,,22.4,0.385,0.0600,0.0300,2.34,0.0100,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091606-T-C,17,43091606,rs2053499636,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1309Asp,p.Asn1309Asp,c.3925A>G,missense_variant,Conflicting interpretations of pathogenicity,928511,,1,628768,0.0000015904117257875718,0,0,,,22.8,0.362,0.0600,0.0600,0.164,0.0200,0.444,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53140,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091610-A-G,17,43091610,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1307Thr,p.Thr1307Thr,c.3921T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.04,,0.0400,0.0200,-1.35,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091613-C-A,17,43091613,rs786202068,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1306Phe,p.Leu1306Phe,c.3918G>T,missense_variant,Likely benign,1285144,,3,628762,0.000004771280707167418,0,0,nfe,0.00000228,19.2,0.445,0.00,-0.0500,-0.526,0.180,0.770,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,3,350104,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091617-T-A,17,43091617,rs431825402,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1305Val,p.Asp1305Val,c.3914A>T,missense_variant,Conflicting interpretations of pathogenicity,96920,,2,628766,0.0000031808335692451565,0,0,nfe,9.5e-7,23.7,0.575,0.00,-0.110,2.32,0.00,0.0310,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091621-C-G,17,43091621,rs886038028,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1304Gln,p.Glu1304Gln,c.3910G>C,missense_variant,,,,3,1461876,0.000002052157638541162,0,0,nfe,7.200000000000001e-7,22.2,0.449,0.00,-0.100,4.17,0.130,0.643,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091622-C-T,17,43091622,rs1597860507,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1303Leu,p.Leu1303Leu,c.3909G>A,synonymous_variant,Likely benign,811551,,1,152202,0.000006570215897294385,0,0,,,4.34,,0.00,-0.0700,-1.71,,,1,41448,0,0,0,15274,0,0,0,3470,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43091623-A-G,17,43091623,rs2154277653,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1303Ser,p.Leu1303Ser,c.3908T>C,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,14.1,0.363,0.0700,0.0500,0.132,0.200,0.0100,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091627-C-A,17,43091627,rs80357461,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1302Ter,p.Glu1302Ter,c.3904G>T,stop_gained,Pathogenic,55045,lof_flag,1,628770,0.000001590406666984748,0,0,,,34.0,,0.00,-0.240,0.982,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091629-C-A,17,43091629,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1301Ile,p.Ser1301Ile,c.3902G>T,missense_variant,,,,1,1461874,6.840534820374396e-7,0,0,,,24.4,0.505,0.0400,0.0500,2.98,0.00,0.294,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091629-C-T,17,43091629,rs1057519496,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1301Asn,p.Ser1301Asn,c.3902G>A,missense_variant,Conflicting interpretations of pathogenicity,375449,,13,1614108,0.000008053983996114262,0,0,nfe,0.00000615,18.6,0.358,0.0500,0.0600,2.98,0.380,0.366,0,74944,0,0,0,60010,0,0,0,29604,0,0,0,44892,0,0,0,64040,0,0,0,6084,0,0,13,1180048,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43091630-T-G,17,43091630,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1301Arg,p.Ser1301Arg,c.3901A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,24.9,0.458,0.190,0.130,2.29,0.00,0.648,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091631-G-A,17,43091631,rs730881454,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys1300Cys,p.Cys1300Cys,c.3900C>T,synonymous_variant,Likely benign,182095,,3,780942,0.00000384151447866807,0,0,nfe,0.0000019100000000000003,9.02,,0.00,-0.0600,0.616,,,0,59142,0,0,0,59020,0,0,0,24452,0,0,0,41260,0,0,0,63746,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74626,0,0,0,35192,0,0 +17-43091632-C-G,17,43091632,rs2154278152,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1300Ser,p.Cys1300Ser,c.3899G>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,6.87,0.375,0.00,-0.0200,-0.197,0.850,0.0190,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091634-C-T,17,43091634,rs398122678,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1299Gln,p.Gln1299Gln,c.3897G>A,synonymous_variant,Likely benign,379171,,3,1461876,0.000002052157638541162,0,0,nfe,7.200000000000001e-7,8.51,,0.0300,0.100,2.49,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,3,1112004,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091636-G-A,17,43091636,rs80357038,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1299Ter,p.Gln1299Ter,c.3895C>T,stop_gained,Pathogenic,55040,lof_flag,1,628768,0.0000015904117257875718,0,0,,,39.0,,0.00,-0.200,7.00,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091637-TGAA-T,17,43091637,rs80358339,TGAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1298del,p.Ser1298del,c.3891_3893del,inframe_deletion,Uncertain significance,55038,,14,1461874,0.000009576748748524155,0,0,nfe,0.00000731,19.8,,0.00,-0.140,-0.639,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,14,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091638-G-A,17,43091638,rs80357440,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1298Leu,p.Ser1298Leu,c.3893C>T,missense_variant,Conflicting interpretations of pathogenicity,245990,,2,780974,0.0000025609047164182162,0,0,,,30.0,0.567,0.220,0.190,6.96,0.00,0.779,2,59150,0,0,0,59018,0,0,0,24452,0,0,0,41266,0,0,0,63760,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74630,0,0,0,35192,0,0 +17-43091642-A-T,17,43091642,rs1450793674,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1297Thr,p.Ser1297Thr,c.3889T>A,missense_variant,Conflicting interpretations of pathogenicity,481466,,3,781000,0.000003841229193341869,0,0,amr,0.00001349,25.8,0.678,0.00,-0.100,3.68,0.00,0.444,0,59160,0,0,3,59020,0,0,0,24454,0,0,0,41264,0,0,0,63762,0,0,0,4464,0,0,0,418142,0,0,0,912,0,0,0,74630,0,0,0,35192,0,0 +17-43091643-A-C,17,43091643,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1296Leu,p.Phe1296Leu,c.3888T>G,missense_variant,,,,1,628764,0.0000015904218434897671,0,0,,,24.9,0.730,0.00,-0.0700,1.18,0.00,0.201,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091647-A-C,17,43091647,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1295Trp,p.Leu1295Trp,c.3884T>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,27.4,0.632,0.00,-0.0700,4.74,0.00,0.924,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091650-C-G,17,43091650,rs776996813,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1294Thr,p.Ser1294Thr,c.3881G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,25.6,0.471,0.570,0.560,5.94,0.00,0.867,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091651-TAGC-T,17,43091651,rs1555586867,TAGC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1293del,p.Ala1293del,c.3877_3879del,inframe_deletion,Uncertain significance,496373,,1,152216,0.0000065696116045619385,0,0,,,12.1,,0.240,0.160,6.36,,,1,41462,0,0,0,15282,0,0,0,3468,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43091653-G-A,17,43091653,rs80357213,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1293Val,p.Ala1293Val,c.3878C>T,missense_variant,Conflicting interpretations of pathogenicity,55036,,6,1461870,0.000004104332122555357,0,0,nfe,0.00000194,7.86,0.537,0.0300,0.0800,1.21,0.360,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,6,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091656-G-C,17,43091656,rs876658340,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1292Cys,p.Ser1292Cys,c.3875C>G,missense_variant,Conflicting interpretations of pathogenicity,576678,,1,833108,0.0000012003245677631232,0,0,,,26.3,0.550,0.0100,0.0700,8.80,0.00,0.956,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091658-A-C,17,43091658,rs1245187485,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1291Trp,p.Cys1291Trp,c.3873T>G,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,22.4,0.596,0.00,-0.0400,0.469,0.0300,0.693,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091659-C-T,17,43091659,rs781212379,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1291Tyr,p.Cys1291Tyr,c.3872G>A,missense_variant,Conflicting interpretations of pathogenicity,1462472,,10,1461868,0.000006840562896239606,0,0,sas,0.00004578999999999998,15.0,0.639,0.0300,0.0400,0.451,0.120,0.0110,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,2,1112002,0,0,,,,,8,86256,0,0,0,60396,0,0 +17-43091660-ATT-A,17,43091660,rs80357918,ATT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290MetfsTer4,p.Lys1290MetfsTer4,c.3869_3870del,frameshift_variant,Pathogenic,55032,lof_flag,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,23.6,,0.0400,0.140,1.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091662-T-G,17,43091662,rs431825401,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290Thr,p.Lys1290Thr,c.3869A>C,missense_variant,Conflicting interpretations of pathogenicity,96918,,12,833100,0.000014404033129276198,0,0,nfe,0.0000084,22.5,0.573,0.00,-0.0100,1.73,0.0100,0.0340,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,12,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091663-T-C,17,43091663,rs80357254,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1290Glu,p.Lys1290Glu,c.3868A>G,missense_variant,Conflicting interpretations of pathogenicity,91617,,12,1461862,0.000008208709166802339,0,0,nfe,0.00000531,12.7,0.410,0.00,-0.0200,1.46,0.810,0.00100,0,33480,0,0,0,44724,0,0,1,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,11,1111998,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091664-T-C,17,43091664,rs1597860805,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Thr,p.Thr1289Thr,c.3867A>G,synonymous_variant,Likely benign,757707,,1,628758,0.0000015904370202844338,0,0,,,0.446,,0.00,0.00,-6.32,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,1,4148,0,0,0,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091665-G-T,17,43091665,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Lys,p.Thr1289Lys,c.3866C>A,missense_variant,,,,1,1461862,6.840590972335282e-7,0,0,,,14.4,0.448,0.0100,0.0100,-0.355,0.0300,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091665-G-A,17,43091665,rs2154280244,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Ile,p.Thr1289Ile,c.3866C>T,missense_variant,Conflicting interpretations of pathogenicity,1424409,,1,1461862,6.840590972335282e-7,0,0,,,5.26,0.452,0.0300,0.0500,-0.355,0.570,0.00900,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091666-T-G,17,43091666,rs1064795449,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1289Pro,p.Thr1289Pro,c.3865A>C,missense_variant,Conflicting interpretations of pathogenicity,421921,,1,628762,0.0000015904269023891392,0,0,,,3.80,0.530,0.00,-0.0100,0.0230,0.190,0.0620,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091669-CCTCA-C,17,43091669,rs80357842,CCTCA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286ArgfsTer20,p.Ser1286ArgfsTer20,c.3858_3861del,frameshift_variant,Pathogenic,37553,lof_flag,2,628756,0.0000031808841585607136,0,0,amr,0.000007580000000000001,31.0,,0.140,0.110,5.75,,,0,17694,0,0,2,43740,0,0,0,20982,0,0,0,36068,0,0,0,53134,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091672-C-T,17,43091672,rs1555586934,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1287Lys,p.Glu1287Lys,c.3859G>A,missense_variant,Conflicting interpretations of pathogenicity,440469,,1,833110,0.0000012003216862119048,0,0,,,24.5,0.516,0.0500,0.0600,3.37,0.0100,0.0460,0,15786,0,0,1,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091673-A-G,17,43091673,rs794726998,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286Ser,p.Ser1286Ser,c.3858T>C,synonymous_variant,Likely benign,193696,,1,628756,0.0000015904420792803568,0,0,,,6.97,,0.00,0.00,-1.48,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36068,0,0,0,53136,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091674-C-G,17,43091674,rs142383077,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1286Thr,p.Ser1286Thr,c.3857G>C,missense_variant,Conflicting interpretations of pathogenicity,187761,,2,1614110,0.0000012390729256370383,0,0,,,20.1,0.554,0.00,0.0300,0.347,0.0100,0.115,1,74948,0,0,0,60014,0,0,0,29606,0,0,0,44898,0,0,0,64044,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,0,91084,0,0,1,62488,0,0 +17-43091674-C-A,17,43091674,rs142383077,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1286Ile,p.Ser1286Ile,c.3857G>T,missense_variant,Conflicting interpretations of pathogenicity,925337,,6,1461872,0.0000041043265073823155,0,0,nfe,0.00000194,22.2,0.531,0.00,0.0100,0.347,0.00,0.360,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,6,1112000,0,0,,,,,0,86258,0,0,0,60394,0,0 +17-43091678-G-A,17,43091678,rs2154281078,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1285Phe,p.Leu1285Phe,c.3853C>T,missense_variant,Conflicting interpretations of pathogenicity,1056581,,1,833106,0.0000012003274493281767,0,0,,,12.3,0.423,0.0200,0.0300,0.407,0.190,0.313,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091679-G-T,17,43091679,rs776070899,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1284Gln,p.His1284Gln,c.3852C>A,missense_variant,Conflicting interpretations of pathogenicity,864100,,1,628762,0.0000015904269023891392,0,0,,,10.8,0.534,0.00,0.00,1.22,0.400,0.191,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,1,33098,0,0 +17-43091683-T-C,17,43091683,rs80357047,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1283Arg,p.His1283Arg,c.3848A>G,missense_variant,Conflicting interpretations of pathogenicity,55028,,23,1614126,0.000014249197398468274,0,0,nfe,0.00001107,14.1,0.565,0.0100,0.0100,0.823,0.180,0.00,1,74958,0,0,2,60006,0,0,0,29606,0,0,0,44900,0,0,0,64038,0,0,0,6084,0,0,20,1180040,0,0,0,912,0,0,0,91092,0,0,0,62490,0,0 +17-43091686-T-TCG,17,43091686,,T,TCG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1282AlafsTer26,p.Glu1282AlafsTer26,c.3844_3845insCG,frameshift_variant,,,lof_flag,2,1461872,0.000001368108835794105,0,0,nfe,2.999999999999999e-7,28.4,,0.0200,0.0700,4.62,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091686-T-A,17,43091686,rs80357217,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1282Val,p.Glu1282Val,c.3845A>T,missense_variant,Conflicting interpretations of pathogenicity,55027,,20,1461872,0.00001368108835794105,0,0,nfe,0.00000931,25.6,0.540,0.0200,0.130,4.62,0.00,0.230,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,17,1112002,0,0,,,,,0,86256,0,0,3,60396,0,0 +17-43091688-C-T,17,43091688,rs1597860926,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1281Gln,p.Gln1281Gln,c.3843G>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.29,,0.0100,0.0100,0.799,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091689-T-G,17,43091689,rs80357483,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1281Pro,p.Gln1281Pro,c.3842A>C,missense_variant,Conflicting interpretations of pathogenicity,55025,,5,152230,0.00003284503711489194,0,0,afr,0.000034719999999999986,17.9,0.533,0.00,0.0100,3.14,0.250,0.731,3,41462,0,0,0,15292,0,0,0,3468,0,0,0,5204,0,0,0,10630,0,0,0,316,0,0,2,68024,0,0,0,910,0,0,0,4830,0,0,0,2094,0,0 +17-43091689-TGAG-T,17,43091689,,TGAG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1280_Gln1281delinsTer,p.Ser1280_Gln1281delinsTer,c.3839_3841del,stop_gained,,,lof_flag,2,1460354,0.0000013695309493451588,0,0,nfe,2.999999999999999e-7,32.0,,0.0300,0.220,3.14,,,0,33450,0,0,0,44720,0,0,0,26124,0,0,0,39686,0,0,0,53416,0,0,0,5768,0,0,2,1110622,0,0,,,,,0,86222,0,0,0,60346,0,0 +17-43091695-G-A,17,43091695,rs1555586967,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1279Val,p.Ala1279Val,c.3836C>T,missense_variant,Conflicting interpretations of pathogenicity,462623,,2,1461872,0.000001368108835794105,0,0,,,11.4,0.552,0.0300,0.0600,0.686,0.0900,0.00500,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,1,5768,0,0,1,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091696-C-A,17,43091696,rs80357036,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1279Ser,p.Ala1279Ser,c.3835G>T,missense_variant,Conflicting interpretations of pathogenicity,421098,,1,1461872,6.840544178970525e-7,0,0,,,13.5,0.503,0.00,0.0100,0.783,0.0200,0.0150,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091696-C-T,17,43091696,rs80357036,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1279Thr,p.Ala1279Thr,c.3835G>A,missense_variant,Conflicting interpretations of pathogenicity,55020,,11,1614192,0.000006814554898054259,0,0,nfe,0.00000429,9.54,0.549,0.00,0.0100,0.783,0.0500,0.0100,0,75052,0,0,0,60020,0,0,0,29606,0,0,0,44886,0,0,0,64032,0,0,0,6062,0,0,10,1180026,0,0,0,912,0,0,0,91084,0,0,1,62512,0,0 +17-43091697-C-T,17,43091697,rs876660942,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1278Lys,p.Lys1278Lys,c.3834G>A,synonymous_variant,Likely benign,234227,,2,628764,0.0000031808436869795343,0,0,,,4.13,,0.0100,0.0100,1.99,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091697-C-G,17,43091697,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1278Asn,p.Lys1278Asn,c.3834G>C,missense_variant,Uncertain significance,2672697,,1,628764,0.0000015904218434897671,0,0,,,16.9,0.427,0.00,0.0100,1.99,0.0300,0.198,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091703-CAAT-C,17,43091703,,CAAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275_Leu1276delinsMet,p.Ile1275_Leu1276delinsMet,c.3825_3827del,inframe_deletion,,,,3,1461866,0.000002052171676473767,0,0,nfe,7.200000000000001e-7,1.52,,0.00,0.0300,-0.925,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,3,1112002,0,0,,,,,0,86250,0,0,0,60396,0,0 +17-43091705-A-G,17,43091705,rs876659178,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1276Leu,p.Leu1276Leu,c.3826T>C,synonymous_variant,Likely benign,231468,,2,628766,0.0000031808335692451565,0,0,,,0.540,,0.00,-0.0100,-0.759,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091707-A-T,17,43091707,rs2053516476,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275Lys,p.Ile1275Lys,c.3824T>A,missense_variant,Conflicting interpretations of pathogenicity,857696,,1,1461878,6.840516103258959e-7,0,0,,,10.7,0.488,0.00,0.00,0.348,0.0300,0.0210,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1112002,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43091707-A-G,17,43091707,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1275Thr,p.Ile1275Thr,c.3824T>C,missense_variant,,,,1,1461878,6.840516103258959e-7,0,0,,,0.812,0.480,0.00,0.00,0.348,0.710,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091708-T-C,17,43091708,rs80357280,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1275Val,p.Ile1275Val,c.3823A>G,missense_variant,Benign,37549,,128,1614218,0.00007929536159304382,0,0,amr,0.0005457200000000002,0.398,0.382,0.00,0.0300,-0.0170,0.940,0.0100,0,75072,0,0,43,60028,0,0,0,29600,0,0,0,44884,0,0,0,64042,0,0,0,6062,0,0,74,1180020,0,0,0,912,0,0,0,91086,0,0,11,62512,0,0 +17-43091709-T-G,17,43091709,rs372396487,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1274Val,p.Val1274Val,c.3822A>C,synonymous_variant,Likely benign,380248,,29,1614128,0.00001796635706709753,0,0,sas,0.00016266,0.366,,0.00,0.0100,-1.42,,,4,74956,0,0,0,60010,0,0,0,29606,0,0,0,44896,0,0,0,64046,0,0,0,6084,0,0,0,1180038,0,0,0,912,0,0,22,91090,0,0,3,62490,0,0 +17-43091711-C-G,17,43091711,rs2053517601,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1274Leu,p.Val1274Leu,c.3820G>C,missense_variant,Conflicting interpretations of pathogenicity,861349,,1,152208,0.000006569956901082729,0,0,,,7.30,0.616,0.00,0.0100,2.32,,,0,41458,0,0,0,15274,0,0,0,3468,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 +17-43091712-C-G,17,43091712,rs1293826790,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273His,p.Gln1273His,c.3819G>C,missense_variant,Conflicting interpretations of pathogenicity,853265,,1,628768,0.0000015904117257875718,0,0,,,9.32,0.541,0.00,0.0100,1.69,0.0300,0.626,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091713-T-A,17,43091713,rs431825400,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273Leu,p.Gln1273Leu,c.3818A>T,missense_variant,Conflicting interpretations of pathogenicity,842937,,1,628768,0.0000015904117257875718,0,0,,,20.2,0.535,0.00,0.0100,2.02,0.00,0.0110,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091714-G-A,17,43091714,rs80357208,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1273Ter,p.Gln1273Ter,c.3817C>T,stop_gained,Pathogenic,55015,lof_flag,1,833106,0.0000012003274493281767,0,0,,,35.0,,0.00,0.150,5.89,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091715-G-T,17,43091715,rs786201893,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1272Lys,p.Asn1272Lys,c.3816C>A,missense_variant,Conflicting interpretations of pathogenicity,185053,,2,628764,0.0000031808436869795343,0,0,nfe,9.5e-7,11.8,0.497,0.00,0.0300,-0.451,0.210,0.0530,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091716-T-C,17,43091716,rs772703445,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1272Ser,p.Asn1272Ser,c.3815A>G,missense_variant,Conflicting interpretations of pathogenicity,232792,,5,628768,0.00000795205862893786,0,0,amr,0.00004437999999999998,5.07,0.285,0.00,0.0300,-0.216,0.330,0.0100,0,17694,0,0,5,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091721-G-T,17,43091721,rs886040166,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Ter,p.Cys1270Ter,c.3810C>A,stop_gained,Pathogenic,266406,lof_flag,1,1461876,6.840525461803874e-7,0,0,,,29.9,,0.00,0.110,-0.112,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091721-G-C,17,43091721,rs886040166,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Trp,p.Cys1270Trp,c.3810C>G,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,17.2,0.529,0.00,0.0100,-0.112,0.0700,0.832,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091722-C-T,17,43091722,rs1207787135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Tyr,p.Cys1270Tyr,c.3809G>A,missense_variant,Likely benign,433708,,1,628768,0.0000015904117257875718,0,0,,,0.754,0.520,0.00,0.0100,-0.147,0.410,0.403,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091723-A-G,17,43091723,rs2154285914,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1270Arg,p.Cys1270Arg,c.3808T>C,missense_variant,Conflicting interpretations of pathogenicity,1171706,,1,628766,0.0000015904167846225783,0,0,,,8.70,0.637,0.00,0.0100,-2.25,0.180,0.246,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,1,53140,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091724-G-C,17,43091724,rs786202569,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1269Glu,p.Asp1269Glu,c.3807C>G,missense_variant,Conflicting interpretations of pathogenicity,186925,,1,628762,0.0000015904269023891392,0,0,,,15.4,0.544,0.00,0.0400,0.231,0.0400,0.164,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53138,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091727-A-G,17,43091727,rs140588714,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1268Asn,p.Asn1268Asn,c.3804T>C,synonymous_variant,Likely benign,136546,,73,1614218,0.0000452231359085328,0,0,afr,0.0005893700000000001,1.05,,0.0500,0.0600,-1.53,,,56,75050,0,0,2,60034,0,0,0,29606,0,0,0,44884,0,0,0,64038,0,0,0,6062,0,0,1,1180036,0,0,0,912,0,0,2,91084,0,0,12,62512,0,0 +17-43091731-A-G,17,43091731,rs587782190,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1267Ser,p.Leu1267Ser,c.3800T>C,missense_variant,Conflicting interpretations of pathogenicity,142031,,9,780996,0.000011523746600494754,0,0,nfe,0.00001112,7.54,0.513,0.0300,0.0500,0.348,0.270,0.0240,0,59154,0,0,0,59018,0,0,0,24452,0,0,0,41270,0,0,0,63772,0,0,0,4464,0,0,9,418138,0,0,0,912,0,0,0,74624,0,0,0,35192,0,0 +17-43091733-G-T,17,43091733,rs200648498,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1266Arg,p.Ser1266Arg,c.3798C>A,missense_variant,Conflicting interpretations of pathogenicity,230616,,1,152208,0.000006569956901082729,0,0,,,8.22,0.806,0.00,0.00,0.0580,,,0,41454,0,0,1,15280,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43091733-G-A,17,43091733,rs200648498,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1266Ser,p.Ser1266Ser,c.3798C>T,synonymous_variant,Likely benign,427316,,1,152326,0.000006564867455326077,0,0,,,0.468,,0.00,0.0100,0.0580,,,0,41576,0,0,0,15300,0,0,0,3472,0,0,1,5186,0,0,0,10614,0,0,0,294,0,0,0,68034,0,0,0,912,0,0,0,4824,0,0,0,2114,0,0 +17-43091733-GCTA-G,17,43091733,rs1439734513,GCTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1266del,p.Ser1266del,c.3795_3797del,inframe_deletion,,,,1,628772,0.0000015904016082141062,0,0,,,5.04,,0.0500,0.0700,0.0580,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091734-C-G,17,43091734,rs80357160,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1266Thr,p.Ser1266Thr,c.3797G>C,missense_variant,Benign,55009,,6,1614066,0.000003717320109586597,0,0,nfe,0.0000012399999999999998,0.860,0.550,0.0500,0.0700,0.594,0.0700,0.0140,0,74926,0,0,0,59998,0,0,0,29606,0,0,0,44898,0,0,0,64038,0,0,0,6084,0,0,5,1180034,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 +17-43091736-ATTC-A,17,43091736,rs2053521870,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264del,p.Lys1264del,c.3792_3794del,inframe_deletion,Uncertain significance,1039866,,2,833088,0.0000024007067680725206,0,0,nfe,4.4e-7,3.06,,0.00,0.0200,-0.505,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761888,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43091737-T-C,17,43091737,rs2154286843,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1265Ser,p.Asn1265Ser,c.3794A>G,missense_variant,Conflicting interpretations of pathogenicity,1510278,,1,628770,0.000001590406666984748,0,0,,,0.0120,0.408,0.00,0.0200,-1.01,0.430,0.00300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091739-C-T,17,43091739,rs894781955,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264Lys,p.Lys1264Lys,c.3792G>A,synonymous_variant,Likely benign,632686,,1,833106,0.0000012003274493281767,0,0,,,1.44,,0.00,0.0500,0.881,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091740-T-G,17,43091740,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1264Thr,p.Lys1264Thr,c.3791A>C,missense_variant,,,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,20.8,0.519,0.00,0.0200,0.194,0.0100,0.0530,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091743-AATG-A,17,43091743,rs1555587043,AATG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1262del,p.Ser1262del,c.3785_3787del,inframe_deletion,Uncertain significance,481434,,1,628770,0.000001590406666984748,0,0,,,9.00,,0.00,0.0100,0.320,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091744-A-G,17,43091744,rs1057523961,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1263Leu,p.Leu1263Leu,c.3787T>C,synonymous_variant,Likely benign,391078,,1,628766,0.0000015904167846225783,0,0,,,0.0690,,0.0100,0.0200,-2.93,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,1,33098,0,0 +17-43091746-G-A,17,43091746,rs80357269,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1262Leu,p.Ser1262Leu,c.3785C>T,missense_variant,Conflicting interpretations of pathogenicity,55007,,5,628754,0.00000795223569154232,0,0,eas,0.00000919,15.5,0.466,0.00,0.0300,2.38,0.0800,0.0970,0,17694,0,0,2,43740,0,0,0,20982,0,0,2,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69782,0,0,0,33098,0,0 +17-43091746-G-GATA,17,43091746,rs1064793058,G,GATA,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu1261dup,p.Leu1261dup,c.3782_3784dup,inframe_insertion,,,,1,152214,0.0000065696979252893955,0,0,,,9.63,,0.00,0.0200,2.38,,,1,41454,0,0,0,15278,0,0,0,3472,0,0,0,5198,0,0,0,10620,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43091747-A-G,17,43091747,rs1011096937,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1262Pro,p.Ser1262Pro,c.3784T>C,missense_variant,Conflicting interpretations of pathogenicity,481459,,3,781014,0.000003841160337714817,0,0,nfe,0.0000019100000000000003,11.9,0.497,0.0200,0.0400,0.298,0.240,0.0520,0,59168,0,0,0,59016,0,0,0,24454,0,0,0,41268,0,0,0,63766,0,0,0,4464,0,0,3,418142,0,0,0,912,0,0,0,74632,0,0,0,35192,0,0 +17-43091748-T-A,17,43091748,rs80356831,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1261Phe,p.Leu1261Phe,c.3783A>T,missense_variant,Likely benign,41819,,1,1461864,6.840581613611115e-7,0,0,,,6.91,0.463,0.00,0.0100,-1.01,0.320,0.0670,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1111992,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091748-T-C,17,43091748,rs80356831,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1261Leu,p.Leu1261Leu,c.3783A>G,synonymous_variant,Likely benign,55005,,26,1614126,0.000016107788363485875,0,0,afr,0.00020967999999999998,0.470,,0.00,0.0100,-1.01,,,23,74956,0,0,2,60006,0,0,0,29606,0,0,0,44892,0,0,0,64048,0,0,0,6084,0,0,0,1180044,0,0,0,912,0,0,0,91088,0,0,1,62490,0,0 +17-43091751-TA-T,17,43091751,rs80357798,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1260TyrfsTer4,p.Leu1260TyrfsTer4,c.3779del,frameshift_variant,Pathogenic,55002,lof_flag,4,833104,0.000004801321323628263,0,0,nfe,0.0000012299999999999999,20.9,,0.00,0.0800,-1.76,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091753-A-G,17,43091753,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1260Leu,p.Leu1260Leu,c.3778T>C,synonymous_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.799,,0.0200,0.0300,0.311,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091755-T-G,17,43091755,rs483353090,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1259Thr,p.Asn1259Thr,c.3776A>C,missense_variant,Conflicting interpretations of pathogenicity,125651,,29,1614202,0.00001796553343385772,0,0,sas,0.00022775999999999997,0.660,0.609,0.00,0.00,-0.305,0.360,0.00600,0,75052,0,0,0,60016,0,0,0,29606,0,0,0,44880,0,0,0,64048,0,0,0,6062,0,0,0,1180034,0,0,0,912,0,0,29,91080,0,0,0,62512,0,0 +17-43091756-TCTC-T,17,43091756,rs1057517536,TCTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1258del,p.Glu1258del,c.3772_3774del,inframe_deletion,Uncertain significance,371791,,2,1461884,0.0000013680976055555708,0,0,nfe,2.999999999999999e-7,8.47,,0.00,0.0300,0.682,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091757-C-T,17,43091757,rs431825399,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1258Glu,p.Glu1258Glu,c.3774G>A,synonymous_variant,Likely benign,225730,,8,1614070,0.000004956414529729194,0,0,nfe,0.00000183,2.63,,0.00,0.0100,3.56,,,1,74914,0,0,0,60006,0,0,0,29606,0,0,0,44894,0,0,0,64046,0,0,0,6084,0,0,6,1180040,0,0,0,912,0,0,0,91080,0,0,1,62488,0,0 +17-43091759-CCT-C,17,43091759,rs80357579,CCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1257GlyfsTer9,p.Glu1257GlyfsTer9,c.3770_3771del,frameshift_variant,Pathogenic,37546,lof_flag,7,1614042,0.00000433693794833096,0,0,nfe,7.899999999999998e-7,17.7,,0.00,0.0700,5.64,,,1,74918,0,0,0,59996,0,0,0,29604,0,0,1,44894,0,0,0,64044,0,0,0,6084,0,0,4,1180018,0,0,0,912,0,0,1,91082,0,0,0,62490,0,0 +17-43091759-C-T,17,43091759,rs397509105,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1258Lys,p.Glu1258Lys,c.3772G>A,missense_variant,Conflicting interpretations of pathogenicity,572647,,1,152176,0.00000657133845021554,0,0,,,14.6,0.479,0.00,0.0200,5.64,,,1,41438,0,0,0,15272,0,0,0,3470,0,0,0,5196,0,0,0,10624,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43091760-C-T,17,43091760,rs1597861430,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1257Glu,p.Glu1257Glu,c.3771G>A,synonymous_variant,Likely benign,798841,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,0.550,,0.0100,0.0100,0.726,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091762-C-T,17,43091762,rs1567790183,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1257Lys,p.Glu1257Lys,c.3769G>A,missense_variant,Conflicting interpretations of pathogenicity,580205,,2,1461878,0.0000013681032206517918,0,0,nfe,2.999999999999999e-7,5.66,0.536,0.00,0.0200,2.94,0.270,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091762-CTG-C,17,43091762,rs730881440,CTG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256ArgfsTer10,p.Thr1256ArgfsTer10,c.3767_3768del,frameshift_variant,Pathogenic,182074,lof_flag,3,1461878,0.0000020521548309776876,0,0,nfe,7.200000000000001e-7,25.4,,0.00,0.0700,2.94,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,3,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091763-T-C,17,43091763,rs786202803,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Thr,p.Thr1256Thr,c.3768A>G,synonymous_variant,Likely benign,186246,,10,1461866,0.000006840572254912557,0,0,nfe,0.00000381,2.50,,0.0100,0.0500,0.116,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,9,1111988,0,0,,,,,0,86258,0,0,1,60396,0,0 +17-43091764-G-T,17,43091764,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Lys,p.Thr1256Lys,c.3767C>A,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,23.0,0.428,0.00,0.0100,3.51,0.0100,0.397,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091764-G-A,17,43091764,rs2154289053,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Ile,p.Thr1256Ile,c.3767C>T,missense_variant,Conflicting interpretations of pathogenicity,1519305,,1,833088,0.0000012003533840362603,0,0,,,22.9,0.421,0.00,0.0300,3.51,0.00,0.443,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091765-T-C,17,43091765,rs2053527896,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1256Ala,p.Thr1256Ala,c.3766A>G,missense_variant,,,,1,628770,0.000001590406666984748,0,0,,,8.85,0.530,0.00,0.0400,0.604,0.500,0.0210,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091766-G-C,17,43091766,rs2154289245,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1255Lys,p.Asn1255Lys,c.3765C>G,missense_variant,,,,2,832990,0.000002400989207553512,0,0,nfe,4.4e-7,2.85,0.265,0.0100,0.0700,1.16,1.00,0.00,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,2,761800,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43091766-G-GT,17,43091766,rs80357848,G,GT,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn1255LysfsTer12,p.Asn1255LysfsTer12,c.3764dup,frameshift_variant,Pathogenic,37545,lof_flag,2,152202,0.00001314043179458877,0,0,afr,0.000008,23.6,,0.00,0.0500,1.16,,,2,41452,0,0,0,15282,0,0,0,3472,0,0,0,5194,0,0,0,10614,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43091769-C-A,17,43091769,rs2053529032,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Asn,p.Lys1254Asn,c.3762G>T,missense_variant,Conflicting interpretations of pathogenicity,1519354,,3,1461790,0.0000020522783710382476,0,0,nfe,7.200000000000001e-7,0.533,0.322,0.00,0.0300,0.0800,0.310,0.0370,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,3,1111938,0,0,,,,,0,86244,0,0,0,60392,0,0 +17-43091771-T-C,17,43091771,rs80357362,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Glu,p.Lys1254Glu,c.3760A>G,missense_variant,Conflicting interpretations of pathogenicity,54994,,5,1461790,0.000003420463951730413,0,0,nfe,8.4e-7,7.84,0.431,0.00,0.0200,0.347,0.450,0.0150,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,4,1111924,0,0,,,,,1,86256,0,0,0,60390,0,0 +17-43091771-TAGAC-T,17,43091771,rs80357868,TAGAC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1253ArgfsTer10,p.Ser1253ArgfsTer10,c.3756_3759del,frameshift_variant,Pathogenic,17673,lof_flag,23,1614000,0.000014250309789343247,0,0,nfe,0.00001221,23.6,,0.00,0.0600,0.347,,,0,74930,0,0,0,60002,0,0,0,29606,0,0,0,44896,0,0,0,64040,0,0,0,6084,0,0,22,1179968,0,0,0,910,0,0,0,91080,0,0,1,62484,0,0 +17-43091771-T-TA,17,43091771,rs80357687,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1254Ter,p.Lys1254Ter,c.3759dup,frameshift_variant,Pathogenic,54992,lof_flag,1,1461790,6.840927903460826e-7,0,0,,,22.2,,0.00,0.0600,0.347,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,1,1111924,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43091773-G-C,17,43091773,rs397509100,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1253Cys,p.Ser1253Cys,c.3758C>G,missense_variant,Conflicting interpretations of pathogenicity,186252,,30,1613886,0.00001858867354943286,0,0,nfe,0.00001646,22.6,0.474,0.00,0.0100,2.91,0.00,0.785,0,74914,0,0,1,59996,0,0,0,29606,0,0,0,44886,0,0,0,64030,0,0,0,6084,0,0,28,1179900,0,0,0,912,0,0,0,91076,0,0,1,62482,0,0 +17-43091775-C-G,17,43091775,rs752122039,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1252Leu,p.Leu1252Leu,c.3756G>C,synonymous_variant,Likely benign,427313,,10,1461824,0.000006840768792960028,0,0,nfe,0.0000031,0.145,,0.00,-0.0100,-2.46,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,8,1111952,0,0,,,,,1,86258,0,0,0,60390,0,0 +17-43091780-A-G,17,43091780,rs757215735,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1251Arg,p.Cys1251Arg,c.3751T>C,missense_variant,,,,1,628768,0.0000015904117257875718,0,0,,,3.58,0.490,0.0100,0.0500,-0.761,0.380,0.0450,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091781-C-G,17,43091781,rs145903082,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Asp,p.Glu1250Asp,c.3750G>C,missense_variant,Conflicting interpretations of pathogenicity,141786,,5,1614040,0.0000030978166588188643,0,0,afr,0.000025490000000000005,1.57,0.436,0.00,0.0200,-0.607,0.0800,0.115,5,74942,0,0,0,60004,0,0,0,29606,0,0,0,44896,0,0,0,64038,0,0,0,6084,0,0,0,1179998,0,0,0,910,0,0,0,91074,0,0,0,62488,0,0 +17-43091781-C-T,17,43091781,rs145903082,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Glu,p.Glu1250Glu,c.3750G>A,synonymous_variant,Likely benign,232493,,6,1614040,0.0000037173799905826374,0,0,afr,0.00001063,0.473,,0.00,0.0100,-0.607,,,3,74942,0,0,2,60004,0,0,0,29606,0,0,1,44896,0,0,0,64038,0,0,0,6084,0,0,0,1179998,0,0,0,910,0,0,0,91074,0,0,0,62488,0,0 +17-43091783-C-G,17,43091783,rs28897686,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1250Gln,p.Glu1250Gln,c.3748G>C,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,7.68,0.388,0.00,0.0200,0.945,0.270,0.0210,0,33478,0,0,0,44724,0,0,0,26134,0,0,1,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43091783-C-T,17,43091783,rs28897686,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1250Lys,p.Glu1250Lys,c.3748G>A,missense_variant,Benign,54987,,494,1614032,0.0003060658029084925,0,0,nfe,0.00036528,11.7,0.359,0.00,0.0100,0.945,0.0600,0.0890,4,74942,0,0,2,60002,0,0,0,29606,0,0,0,44890,0,0,11,64036,0,0,0,6084,0,0,466,1180006,0,0,0,912,0,0,1,91066,0,0,10,62488,0,0 +17-43091783-C-A,17,43091783,rs28897686,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1250Ter,p.Glu1250Ter,c.3748G>T,stop_gained,Pathogenic,17672,lof_flag,4,1461836,0.000002736285055231914,0,0,nfe,8.4e-7,33.0,,0.00,0.130,0.945,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,4,1111970,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43091784-G-T,17,43091784,rs587780801,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1249Thr,p.Thr1249Thr,c.3747C>A,synonymous_variant,Benign/Likely benign,682575,,1,1461822,6.840778152196368e-7,0,0,,,0.130,,0.00,0.0100,-0.740,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53414,0,0,0,5768,0,0,0,1111960,0,0,,,,,1,86250,0,0,0,60394,0,0 +17-43091784-G-A,17,43091784,rs587780801,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1249Thr,p.Thr1249Thr,c.3747C>T,synonymous_variant,Likely benign,136085,,44,1613960,0.000027262137847282462,0,0,nfe,0.00002313,0.169,,0.00,0.0200,-0.740,,,0,74904,0,0,0,59996,0,0,0,29606,0,0,3,44890,0,0,0,64018,0,0,1,6084,0,0,37,1179998,0,0,0,910,0,0,3,91070,0,0,0,62484,0,0 +17-43091785-G-A,17,43091785,rs80357099,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1249Ile,p.Thr1249Ile,c.3746C>T,missense_variant,,,,1,1461858,6.840609689860438e-7,0,0,,,4.06,0.372,0.00,0.0100,0.897,0.150,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091785-G-C,17,43091785,rs80357099,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1249Ser,p.Thr1249Ser,c.3746C>G,missense_variant,Conflicting interpretations of pathogenicity,54986,,7,1614156,0.000004336631651463675,0,0,afr,0.000025460000000000004,3.20,0.410,0.00,0.0300,0.897,0.240,0.00300,5,75046,0,0,1,60018,0,0,0,29606,0,0,0,44880,0,0,0,64030,0,0,0,6062,0,0,0,1180026,0,0,0,910,0,0,0,91076,0,0,1,62502,0,0 +17-43091792-C-T,17,43091792,rs80357191,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1247Ile,p.Val1247Ile,c.3739G>A,missense_variant,Benign,54985,,65,1614168,0.00004026842311333145,1,0,eas,0.0004426700000000003,0.0940,0.423,0.00,0.0100,-0.129,0.580,0.0100,11,75044,0,0,1,60022,0,0,0,29606,0,0,28,44884,0,0,0,64028,0,0,2,6062,0,0,12,1180024,0,0,0,912,0,0,1,91078,0,0,10,62508,1,0 +17-43091793-G-A,17,43091793,rs778655093,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1246Thr,p.Thr1246Thr,c.3738C>T,synonymous_variant,Likely benign,383578,,27,1613982,0.00001672881110198255,0,0,nfe,0.00001376,0.970,,0.0100,0.0400,-0.345,,,1,74918,0,0,1,59980,0,0,0,29606,0,0,0,44894,0,0,0,64018,0,0,0,6084,0,0,24,1180012,0,0,0,912,0,0,1,91072,0,0,0,62486,0,0 +17-43091794-G-A,17,43091794,rs878854949,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ile,p.Thr1246Ile,c.3737C>T,missense_variant,Conflicting interpretations of pathogenicity,650348,,5,1461860,0.000003420300165542528,0,0,sas,0.000021940000000000003,12.4,0.350,0.00,0.0100,2.12,0.00,0.230,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111990,0,0,,,,,5,86256,0,0,0,60394,0,0 +17-43091795-T-C,17,43091795,rs587776488,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ala,p.Thr1246Ala,c.3736A>G,missense_variant,Conflicting interpretations of pathogenicity,156192,,1,628772,0.0000015904016082141062,0,0,,,0.790,0.124,0.00,0.0200,-0.358,0.480,0.00,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091795-T-A,17,43091795,rs587776488,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1246Ser,p.Thr1246Ser,c.3736A>T,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.523,0.258,0.0100,0.0100,-0.358,0.440,0.0570,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69798,0,0,0,33098,0,0 +17-43091796-G-A,17,43091796,rs1567790391,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1245Ser,p.Ser1245Ser,c.3735C>T,synonymous_variant,Likely benign,632685,,1,833092,0.0000012003476206709464,0,0,,,1.30,,0.0100,0.0200,-0.665,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43091797-C-T,17,43091797,rs1060502348,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1245Asn,p.Ser1245Asn,c.3734G>A,missense_variant,Conflicting interpretations of pathogenicity,409344,,1,833100,0.0000012003360941063497,0,0,,,0.807,0.213,0.00,0.0200,0.300,0.540,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43091799-A-C,17,43091799,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1244Gln,p.His1244Gln,c.3732T>G,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,0.0510,0.394,0.00,0.0200,-0.789,0.650,0.00600,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091800-T-A,17,43091800,rs2154292030,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1244Leu,p.His1244Leu,c.3731A>T,missense_variant,Conflicting interpretations of pathogenicity,2128271,,1,833106,0.0000012003274493281767,0,0,,,2.39,0.406,0.0100,0.0200,-0.870,0.500,0.00300,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091801-G-A,17,43091801,rs2053536450,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His1244Tyr,p.His1244Tyr,c.3730C>T,missense_variant,,,,1,152302,0.000006565901957951964,0,0,,,3.57,0.396,0.0200,0.0400,0.256,,,0,41578,0,0,0,15302,0,0,0,3470,0,0,0,5186,0,0,0,10608,0,0,0,294,0,0,1,68030,0,0,0,912,0,0,0,4810,0,0,0,2112,0,0 +17-43091802-C-T,17,43091802,rs2154292175,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1243Arg,p.Arg1243Arg,c.3729G>A,synonymous_variant,Likely benign,1734353,,1,628770,0.000001590406666984748,0,0,,,0.798,,0.0100,0.0300,-0.509,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091805-A-G,17,43091805,rs1060504567,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Thr,p.Thr1242Thr,c.3726T>C,synonymous_variant,Likely benign,415570,,3,833102,0.0000036009996374993697,0,0,nfe,0.00000105,2.95,,0.00,0.0200,0.891,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091806-G-A,17,43091806,rs2154292430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Ile,p.Thr1242Ile,c.3725C>T,missense_variant,,,,1,628772,0.0000015904016082141062,0,0,,,16.8,0.362,0.0100,0.0400,2.23,0.0200,0.113,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53144,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091807-T-C,17,43091807,rs80357037,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1242Ala,p.Thr1242Ala,c.3724A>G,missense_variant,Benign,54982,,12,1461876,0.000008208630554164648,0,0,nfe,0.00000455,14.4,0.394,0.00,0.0100,0.0960,0.0200,0.0570,1,33478,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,10,1112004,0,0,,,,,0,86258,0,0,1,60394,0,0 +17-43091808-A-G,17,43091808,rs772759939,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Ser,p.Ser1241Ser,c.3723T>C,synonymous_variant,Likely benign,427290,,2,1461880,0.0000013681013489479301,0,0,nfe,2.999999999999999e-7,4.10,,0.00,0.0100,-0.295,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091809-G-T,17,43091809,rs80357143,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Tyr,p.Ser1241Tyr,c.3722C>A,missense_variant,Conflicting interpretations of pathogenicity,54979,,5,1461868,0.000003420281448119803,0,0,nfe,0.0000013199999999999999,21.9,0.404,0.0200,0.0400,2.09,0.0100,0.305,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,5,1111994,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091809-G-C,17,43091809,rs80357143,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1241Cys,p.Ser1241Cys,c.3722C>G,missense_variant,Likely benign,54980,,1,1461868,6.840562896239606e-7,0,0,,,22.3,0.376,0.0100,0.0300,2.09,0.0200,0.0110,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091813-G-A,17,43091813,rs80356903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1240Ter,p.Gln1240Ter,c.3718C>T,stop_gained,Pathogenic,54978,lof_flag,2,1461864,0.000001368116322722223,0,0,nfe,2.999999999999999e-7,36.0,,0.0200,0.0700,3.40,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,2,1112002,0,0,,,,,0,86242,0,0,0,60396,0,0 +17-43091814-A-T,17,43091814,rs730881453,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1239Ser,p.Ser1239Ser,c.3717T>A,synonymous_variant,Likely benign,182094,,23,1614102,0.000014249409269054868,0,0,amr,0.00008995999999999999,6.81,,0.00,0.0100,1.31,,,0,74940,0,0,10,60008,0,0,0,29606,0,0,0,44898,0,0,3,64040,0,0,1,6084,0,0,6,1180040,0,0,0,912,0,0,0,91088,0,0,3,62486,0,0 +17-43091815-G-A,17,43091815,rs2154292840,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1239Phe,p.Ser1239Phe,c.3716C>T,missense_variant,Conflicting interpretations of pathogenicity,1809546,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,17.0,0.361,0.0200,0.0400,3.20,0.150,0.781,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091816-A-T,17,43091816,rs1213036734,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1239Thr,p.Ser1239Thr,c.3715T>A,missense_variant,,,,1,628774,0.0000015903965494756462,0,0,,,8.69,0.314,0.00,0.00,0.478,0.520,0.0490,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091818-G-C,17,43091818,rs28897688,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1238Arg,p.Pro1238Arg,c.3713C>G,missense_variant,Conflicting interpretations of pathogenicity,54974,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,18.2,0.429,0.00,0.0100,0.257,0.00,0.564,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1111998,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091818-G-A,17,43091818,rs28897688,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1238Leu,p.Pro1238Leu,c.3713C>T,missense_variant,Benign,37543,,258,1614034,0.0001598479338105641,0,0,nfe,0.00004019,14.1,0.361,0.0200,0.0300,0.257,0.0400,0.0300,0,74922,0,0,0,59990,0,0,108,29604,0,0,0,44896,0,0,75,64028,0,0,1,6084,0,0,60,1180024,0,0,0,912,0,0,1,91090,0,0,13,62484,0,0 +17-43091820-T-C,17,43091820,rs80357388,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1237Met,p.Ile1237Met,c.3711A>G,missense_variant,Conflicting interpretations of pathogenicity,54973,,11,1614046,0.000006815171314820024,0,0,nfe,0.00000429,11.6,0.402,0.00,0.0100,-0.238,0.0300,0.00700,0,74930,0,0,0,59984,0,0,1,29606,0,0,0,44894,0,0,0,64026,0,0,0,6084,0,0,10,1180036,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43091821-A-G,17,43091821,rs876660883,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1237Thr,p.Ile1237Thr,c.3710T>C,missense_variant,Conflicting interpretations of pathogenicity,234148,,2,985290,0.0000020298592292624507,0,0,,,0.0290,0.326,0.00,0.0100,-3.31,1.00,0.00,1,57234,0,0,0,16260,0,0,0,8624,0,0,0,8826,0,0,0,10884,0,0,0,1936,0,0,1,829942,0,0,0,912,0,0,0,21284,0,0,0,29388,0,0 +17-43091823-A-C,17,43091823,rs28897687,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1236Lys,p.Asn1236Lys,c.3708T>G,missense_variant,Benign,54970,,641,1614166,0.0003971090953470709,0,0,nfe,0.00044997,1.71,0.371,0.00,0.0300,-1.17,0.410,0.00600,8,75042,0,0,32,60020,0,0,0,29604,0,0,0,44880,0,0,0,64032,0,0,0,6062,0,0,570,1180024,0,0,0,912,0,0,0,91078,0,0,31,62512,0,0 +17-43091823-A-G,17,43091823,rs28897687,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1236Asn,p.Asn1236Asn,c.3708T>C,synonymous_variant,Likely benign,496372,,1,1461878,6.840516103258959e-7,0,0,,,1.02,,0.00,0.0100,-1.17,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112002,0,0,,,,,1,86258,0,0,0,60396,0,0 +17-43091824-T-C,17,43091824,rs863224760,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1236Ser,p.Asn1236Ser,c.3707A>G,missense_variant,Conflicting interpretations of pathogenicity,216665,,5,780966,0.000006402327374047014,0,0,eas,0.00003259,0.0550,0.364,0.00,0.00,-2.30,1.00,0.0380,1,59150,0,0,0,59000,0,0,0,24454,0,0,4,41268,0,0,0,63764,0,0,0,4464,0,0,0,418140,0,0,0,912,0,0,0,74624,0,0,0,35190,0,0 +17-43091826-GTTTAC-G,17,43091826,rs80357609,GTTTAC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1234GlnfsTer8,p.Val1234GlnfsTer8,c.3700_3704del,frameshift_variant,Pathogenic,37542,lof_flag,5,1461882,0.000003420248693122974,0,0,nfe,0.0000013199999999999999,23.9,,0.0100,0.0200,0.719,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,5,1112006,0,0,,,,,0,86258,0,0,0,60396,0,0 +17-43091829-T-C,17,43091829,rs587780862,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1234Val,p.Val1234Val,c.3702A>G,synonymous_variant,Likely benign,136545,,1,628766,0.0000015904167846225783,0,0,,,4.74,,0.00,0.0200,1.03,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091832-T-C,17,43091832,rs368690455,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1233Lys,p.Lys1233Lys,c.3699A>G,synonymous_variant,Likely benign,183855,,40,1614192,0.000024780199629288215,0,0,amr,0.00045923000000000014,6.66,,0.150,0.190,1.82,,,2,75050,0,0,37,60010,0,0,1,29606,0,0,0,44884,0,0,0,64038,0,0,0,6062,0,0,0,1180038,0,0,0,912,0,0,0,91084,0,0,0,62508,0,0 +17-43091834-T-C,17,43091834,rs774679104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1233Glu,p.Lys1233Glu,c.3697A>G,missense_variant,Conflicting interpretations of pathogenicity,1734003,,1,628770,0.000001590406666984748,0,0,,,22.7,0.414,0.00,0.0400,2.11,0.0300,0.00700,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091840-A-G,17,43091840,rs41293451,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1231Leu,p.Phe1231Leu,c.3691T>C,missense_variant,Conflicting interpretations of pathogenicity,37541,,40,1614196,0.00002478013822361101,0,0,afr,0.00035600000000000014,25.2,0.642,0.0100,0.0300,2.55,0.00,0.138,36,75058,0,0,0,60024,0,0,2,29604,0,0,1,44886,0,0,0,64040,0,0,0,6062,0,0,1,1180032,0,0,0,912,0,0,0,91070,0,0,0,62508,0,0 +17-43091841-T-C,17,43091841,rs940052169,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1230Leu,p.Leu1230Leu,c.3690A>G,synonymous_variant,Likely benign,824075,,1,833106,0.0000012003274493281767,0,0,,,5.78,,0.00,0.0100,-0.617,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091843-A-C,17,43091843,rs786201581,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1230Val,p.Leu1230Val,c.3688T>G,missense_variant,Conflicting interpretations of pathogenicity,890889,,1,628764,0.0000015904218434897671,0,0,,,1.55,0.548,0.0100,0.0200,-5.54,0.0100,0.162,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,53144,0,0,0,4148,0,0,1,350096,0,0,,,,,0,69798,0,0,0,33098,0,0 +17-43091845-A-G,17,43091845,rs2053543910,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1229Ser,p.Leu1229Ser,c.3686T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,25.6,0.579,0.0600,0.0800,6.33,0.00,0.946,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43091846-A-G,17,43091846,rs767958299,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1229Leu,p.Leu1229Leu,c.3685T>C,synonymous_variant,Likely benign,240795,,3,1461874,0.000002052160446112319,0,0,sas,0.00000385,9.74,,0.0600,0.0600,2.33,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,1,1112000,0,0,,,,,2,86258,0,0,0,60396,0,0 +17-43091847-G-A,17,43091847,rs786201623,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His1228His,p.His1228His,c.3684C>T,synonymous_variant,Benign,184693,,20,1614066,0.000012391067031955323,0,0,afr,0.00001063,5.03,,0.00,0.00,0.311,,,3,74924,0,0,2,60000,0,0,0,29604,0,0,0,44898,0,0,0,64030,0,0,0,6084,0,0,15,1180040,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43091850-T-A,17,43091850,rs730881488,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1227His,p.Gln1227His,c.3681A>T,missense_variant,Conflicting interpretations of pathogenicity,182154,,1,833110,0.0000012003216862119048,0,0,,,22.6,0.594,0.0100,0.0100,-1.58,0.00,0.0410,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091851-T-C,17,43091851,rs1295353818,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1227Arg,p.Gln1227Arg,c.3680A>G,missense_variant,,,,1,152204,0.000006570129562954982,0,0,,,25.0,0.606,0.0400,0.0800,4.76,,,0,41450,0,0,0,15274,0,0,0,3472,0,0,0,5200,0,0,0,10624,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 +17-43091852-G-T,17,43091852,rs886040159,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1227Lys,p.Gln1227Lys,c.3679C>A,missense_variant,,,,1,152132,0.00000657323902926406,0,0,,,25.1,0.568,0.00,0.0100,8.80,,,0,41432,0,0,0,15256,0,0,0,3470,0,0,1,5194,0,0,0,10602,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43091856-G-T,17,43091856,rs879254023,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1225Ter,p.Cys1225Ter,c.3675C>A,stop_gained,Pathogenic,245968,lof_flag,1,152188,0.000006570820301206403,0,0,,,35.0,,0.00,0.0400,1.57,,,0,41450,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43091856-G-A,17,43091856,rs879254023,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225Cys,p.Cys1225Cys,c.3675C>T,synonymous_variant,Likely benign,1733827,,1,628760,0.0000015904319613206948,0,0,,,8.59,,0.00,0.0100,1.57,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69796,0,0,0,33098,0,0 +17-43091858-A-C,17,43091858,rs1382025345,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225Gly,p.Cys1225Gly,c.3673T>G,missense_variant,Conflicting interpretations of pathogenicity,462621,,1,628762,0.0000015904269023891392,0,0,,,25.4,0.636,0.0400,0.0700,2.17,0.0100,0.196,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,1,53142,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69798,0,0,0,33096,0,0 +17-43091858-A-T,17,43091858,rs1382025345,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys1225Ser,p.Cys1225Ser,c.3673T>A,missense_variant,Conflicting interpretations of pathogenicity,1009310,,1,152238,0.0000065686622262510016,0,0,,,21.6,0.426,0.0200,0.0300,2.17,,,0,41468,0,0,0,15280,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 +17-43091859-G-GGGAA,17,43091859,rs80357797,G,GGGAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1225SerfsTer10,p.Cys1225SerfsTer10,c.3668_3671dup,frameshift_variant,Pathogenic,54960,lof_flag,1,833108,0.0000012003245677631232,0,0,,,32.0,,0.0300,0.0400,-0.0170,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43091864-G-C,17,43091864,rs1555587309,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1223Val,p.Leu1223Val,c.3667C>G,missense_variant,Conflicting interpretations of pathogenicity,952987,,2,1461866,0.0000013681144509825114,0,0,nfe,2.999999999999999e-7,24.8,0.456,0.00,0.0100,8.80,0.00,0.0490,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,2,1111998,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091866-T-G,17,43091866,rs2154296043,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1222Ala,p.Glu1222Ala,c.3665A>C,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,24.1,0.359,0.00,0.0100,6.36,0.00,0.104,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091867-C-A,17,43091867,rs80357356,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1222Ter,p.Glu1222Ter,c.3664G>T,stop_gained,Pathogenic,54959,lof_flag,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,36.0,,0.00,0.0700,7.06,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091869-T-G,17,43091869,rs273900713,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1221Ala,p.Glu1221Ala,c.3662A>C,missense_variant,Conflicting interpretations of pathogenicity,54958,,8,1614076,0.000004956396105263941,0,0,eas,0.00007255999999999998,26.2,0.488,0.00,0.0200,6.36,0.00,0.628,0,74944,0,0,0,60000,0,0,0,29604,0,0,7,44896,0,0,0,64028,0,0,0,6084,0,0,0,1180046,0,0,0,912,0,0,0,91076,0,0,1,62486,0,0 +17-43091870-C-A,17,43091870,rs80357310,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1221Ter,p.Glu1221Ter,c.3661G>T,stop_gained,Pathogenic,54957,lof_flag,1,1461864,6.840581613611115e-7,0,0,,,37.0,,0.00,0.0700,8.90,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,1,39698,0,0,0,53418,0,0,0,5766,0,0,0,1112002,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43091871-A-G,17,43091871,rs1365746397,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1220Asp,p.Asp1220Asp,c.3660T>C,synonymous_variant,Likely benign,926212,,2,628762,0.0000031808538047782785,0,0,,,7.04,,0.0100,0.0100,-0.141,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43091872-T-C,17,43091872,rs766572561,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1220Gly,p.Asp1220Gly,c.3659A>G,missense_variant,,,,6,1461870,0.000004104332122555357,0,0,sas,0.00002995,24.0,0.468,0.00,0.0300,3.72,0.0100,0.00600,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112002,0,0,,,,,6,86256,0,0,0,60394,0,0 +17-43091872-T-A,17,43091872,rs766572561,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1220Val,p.Asp1220Val,c.3659A>T,missense_variant,Conflicting interpretations of pathogenicity,232408,,21,1614078,0.00001301052365499065,0,0,nfe,0.0000035900000000000004,26.3,0.510,0.00,0.0200,3.72,0.00,0.368,0,74932,0,0,0,59998,0,0,0,29604,0,0,0,44898,0,0,2,64032,0,0,0,6084,0,0,9,1180050,0,0,0,912,0,0,0,91082,0,0,10,62486,0,0 +17-43091874-C-A,17,43091874,rs80356876,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1219Asp,p.Glu1219Asp,c.3657G>T,missense_variant,Benign,2035518,,1,1461874,6.840534820374396e-7,0,0,,,23.0,0.684,0.00,0.0500,2.89,0.00,0.0110,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43091874-C-G,17,43091874,rs80356876,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1219Asp,p.Glu1219Asp,c.3657G>C,missense_variant,Benign,37537,,50,1614024,0.000030978473678210486,0,0,nfe,0.0000315,23.0,0.678,0.0300,0.0900,2.89,0.00,0.0110,0,74908,0,0,0,59992,0,0,0,29604,0,0,0,44898,0,0,0,64022,0,0,0,6084,0,0,48,1180042,0,0,0,912,0,0,0,91076,0,0,2,62486,0,0 +17-43091876-C-T,17,43091876,rs80356921,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1219Lys,p.Glu1219Lys,c.3655G>A,missense_variant,Conflicting interpretations of pathogenicity,54956,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,26.1,0.627,0.0200,0.0300,6.95,0.00,0.417,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,6,1112002,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091879-T-C,17,43091879,rs80356894,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1218Gly,p.Ser1218Gly,c.3652A>G,missense_variant,Conflicting interpretations of pathogenicity,37536,,4,780970,0.000005121835665902659,0,0,,,22.7,0.373,0.150,0.130,2.83,0.0200,0.00900,1,59142,0,0,2,59016,0,0,0,24452,0,0,0,41268,0,0,0,63766,0,0,0,4464,0,0,0,418132,0,0,0,912,0,0,0,74628,0,0,1,35190,0,0 +17-43091881-G-C,17,43091881,rs398122676,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1217Cys,p.Ser1217Cys,c.3650C>G,missense_variant,Conflicting interpretations of pathogenicity,91611,,4,1461872,0.00000273621767158821,0,0,eas,0.00002004,17.5,0.458,0.00,0.0100,2.07,0.0700,0.0590,0,33480,0,0,0,44724,0,0,0,26132,0,0,3,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,1,86256,0,0,0,60396,0,0 +17-43091882-A-AT,17,43091882,rs80357902,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1217IlefsTer2,p.Ser1217IlefsTer2,c.3648dup,frameshift_variant,Pathogenic,37535,lof_flag,1,1461870,6.840553537592262e-7,0,0,,,24.8,,0.00,0.0700,0.833,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091882-ATAAGT-A,17,43091882,rs1060505051,ATAAGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215IlefsTer2,p.Asn1215IlefsTer2,c.3644_3648del,frameshift_variant,Pathogenic,417831,lof_flag,1,1461870,6.840553537592262e-7,0,0,,,23.0,,0.0200,0.0500,0.833,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53420,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43091882-A-G,17,43091882,rs273900712,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1217Pro,p.Ser1217Pro,c.3649T>C,missense_variant,Conflicting interpretations of pathogenicity,54953,,69,1614044,0.000042749763946955595,0,0,sas,0.00015373999999999997,21.7,0.450,0.0100,0.0100,0.833,0.0300,0.0220,1,74920,0,0,2,59996,0,0,0,29604,0,0,4,44894,0,0,30,64040,0,0,0,6084,0,0,8,1180022,0,0,0,912,0,0,21,91084,0,0,3,62488,0,0 +17-43091884-A-C,17,43091884,rs397509091,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1216Ter,p.Leu1216Ter,c.3647T>G,stop_gained,Pathogenic,54951,lof_flag,1,628760,0.0000015904319613206948,0,0,,,33.0,,0.0100,0.0400,-1.29,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,1,36068,0,0,0,53142,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091886-G-C,17,43091886,rs758329415,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215Lys,p.Asn1215Lys,c.3645C>G,missense_variant,Conflicting interpretations of pathogenicity,1026607,,1,628756,0.0000015904420792803568,0,0,,,14.8,0.293,0.00,0.0200,-0.0360,0.0100,0.0340,0,17694,0,0,1,43736,0,0,0,20980,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43091887-T-C,17,43091887,rs786203310,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1215Ser,p.Asn1215Ser,c.3644A>G,missense_variant,Conflicting interpretations of pathogenicity,186902,,2,1461858,0.0000013681219379720876,0,0,,,8.15,0.230,0.00,0.0100,-0.553,0.380,0.00100,0,33476,0,0,0,44720,0,0,0,26132,0,0,0,39698,0,0,0,53416,0,0,0,5768,0,0,1,1111998,0,0,,,,,1,86254,0,0,0,60396,0,0 +17-43091889-C-A,17,43091889,rs398122675,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Asp,p.Glu1214Asp,c.3642G>T,missense_variant,Conflicting interpretations of pathogenicity,91610,,1,1461824,6.840768792960028e-7,0,0,,,19.8,0.512,0.00,0.00,1.16,0.0400,0.0220,0,33478,0,0,1,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43091889-C-T,17,43091889,rs398122675,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Glu,p.Glu1214Glu,c.3642G>A,synonymous_variant,Likely benign,427302,,7,1461824,0.000004788538155072019,0,0,sas,0.00003764999999999999,5.11,,0.00,0.0300,1.16,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,7,86254,0,0,0,60392,0,0 +17-43091889-C-G,17,43091889,rs398122675,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Asp,p.Glu1214Asp,c.3642G>C,missense_variant,Conflicting interpretations of pathogenicity,496369,,1,1461824,6.840768792960028e-7,0,0,,,19.9,0.512,0.00,0.0400,1.16,0.0400,0.0220,1,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53418,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43091891-C-T,17,43091891,rs80356923,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1214Lys,p.Glu1214Lys,c.3640G>A,missense_variant,Benign,54948,,285,1614052,0.00017657423676560607,0,0,nfe,0.00020279,26.0,0.562,0.00,0.0100,6.85,0.00,0.165,0,74930,0,0,14,60000,0,0,0,29604,0,0,0,44900,0,0,0,64026,0,0,0,6084,0,0,266,1180030,0,0,0,912,0,0,0,91078,0,0,5,62488,0,0 +17-43091891-C-A,17,43091891,rs80356923,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1214Ter,p.Glu1214Ter,c.3640G>T,stop_gained,Pathogenic,54949,lof_flag,1,1461856,6.840619048661428e-7,0,0,,,37.0,,0.00,0.0800,6.85,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53416,0,0,0,5768,0,0,1,1111994,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43091895-T-C,17,43091895,rs148038877,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1212Ser,p.Ser1212Ser,c.3636A>G,synonymous_variant,Likely benign,136544,,104,1614066,0.00006443354856616768,0,0,nfe,0.00007408,7.02,,0.00,0.0400,-3.19,,,0,74936,0,0,0,60002,0,0,0,29600,0,0,0,44896,0,0,0,64038,0,0,0,6084,0,0,104,1180024,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43091901-C-G,17,43091901,rs1188253884,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Asp,p.Glu1210Asp,c.3630G>C,missense_variant,,,,1,628750,0.0000015904572564612325,0,0,,,20.6,0.535,0.00,0.0400,1.74,0.0500,0.628,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69796,0,0,1,33096,0,0 +17-43091901-C-T,17,43091901,rs1188253884,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Glu,p.Glu1210Glu,c.3630G>A,synonymous_variant,Likely benign,2681810,,1,628750,0.0000015904572564612325,0,0,,,7.65,,0.00,0.0300,1.74,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36068,0,0,0,53140,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091902-T-C,17,43091902,rs1060502347,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210Gly,p.Glu1210Gly,c.3629A>G,missense_variant,Conflicting interpretations of pathogenicity,409341,,2,1461842,0.0000013681369121970774,0,0,,,26.3,0.515,0.00,0.0200,4.61,0.00,0.549,0,33478,0,0,1,44720,0,0,0,26132,0,0,0,39696,0,0,0,53414,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091903-C-CT,17,43091903,rs80357729,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1210ArgfsTer9,p.Glu1210ArgfsTer9,c.3627dup,frameshift_variant,Pathogenic,37534,lof_flag,5,1461836,0.0000034203563190398922,0,0,eas,0.00000835,31.0,,0.00,0.0500,4.90,,,0,33478,0,0,0,44720,0,0,0,26132,0,0,2,39696,0,0,0,53414,0,0,0,5768,0,0,3,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43091904-TA-T,17,43091904,rs80357571,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1209Ter,p.Leu1209Ter,c.3626del,frameshift_variant,Pathogenic,54943,lof_flag,3,628742,0.000004771432479458983,0,0,,,28.3,,0.00,0.0400,-0.823,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36066,0,0,3,53138,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091904-T-C,17,43091904,rs770579978,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1209Leu,p.Leu1209Leu,c.3627A>G,synonymous_variant,Likely benign,427289,,6,628742,0.000009542864958917966,0,0,nfe,0.00000716,6.82,,0.00,0.130,-0.823,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,6,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091906-A-C,17,43091906,rs273900711,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1209Val,p.Leu1209Val,c.3625T>G,missense_variant,Conflicting interpretations of pathogenicity,54942,,7,1614036,0.000004336954070417264,0,0,,,23.1,0.581,0.00,0.0100,0.974,0.0100,0.549,1,74920,0,0,0,59994,0,0,0,29602,0,0,1,44898,0,0,0,64030,0,0,0,6084,0,0,0,1180026,0,0,0,910,0,0,0,91084,0,0,5,62488,0,0 +17-43091909-T-C,17,43091909,rs80357152,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1208Glu,p.Lys1208Glu,c.3622A>G,missense_variant,Conflicting interpretations of pathogenicity,54940,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,18.9,0.502,0.00,0.00,4.67,0.0900,0.0490,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091910-C-T,17,43091910,rs1597862489,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1207Lys,p.Lys1207Lys,c.3621G>A,synonymous_variant,Likely benign,824001,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,3.57,,0.00,0.0100,0.791,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091912-T-C,17,43091912,rs80357455,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1207Glu,p.Lys1207Glu,c.3619A>G,missense_variant,Conflicting interpretations of pathogenicity,89060,,1,628736,0.000001590492671009772,0,0,,,4.42,0.349,0.00,0.0100,0.0460,0.100,0.0440,0,17692,0,0,0,43734,0,0,0,20980,0,0,0,36064,0,0,0,53136,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43091915-C-T,17,43091915,rs1555587407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1206Thr,p.Ala1206Thr,c.3616G>A,missense_variant,Conflicting interpretations of pathogenicity,2072382,,2,628718,0.000003181076412636508,0,0,,,0.577,0.504,0.00,0.0500,-0.107,0.0500,0.235,0,17692,0,0,0,43734,0,0,0,20978,0,0,1,36062,0,0,0,53128,0,0,0,4148,0,0,0,350088,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43091916-C-T,17,43091916,rs750113197,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1205Gly,p.Gly1205Gly,c.3615G>A,synonymous_variant,Likely benign,184109,,5,1461832,0.000003420365678135381,0,0,nfe,8.4e-7,1.05,,0.00,0.120,0.389,,,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53408,0,0,0,5768,0,0,4,1111994,0,0,,,,,0,86254,0,0,1,60392,0,0 +17-43091919-T-C,17,43091919,rs537737635,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1204Arg,p.Arg1204Arg,c.3612A>G,synonymous_variant,Likely benign,234011,,30,1614170,0.000018585403024464586,0,0,sas,0.00021756,3.10,,0.00,0.0300,0.252,,,0,75054,0,0,0,60018,0,0,0,29602,0,0,0,44878,0,0,0,64030,0,0,1,6062,0,0,0,1180022,0,0,0,912,0,0,28,91086,0,0,1,62506,0,0 +17-43091920-C-G,17,43091920,rs1456509049,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1204Thr,p.Arg1204Thr,c.3611G>C,missense_variant,Conflicting interpretations of pathogenicity,485393,,1,833110,0.0000012003216862119048,0,0,,,10.4,0.335,0.00,0.0100,1.22,0.0500,0.0510,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43091923-C-T,17,43091923,rs55930959,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1203Gln,p.Arg1203Gln,c.3608G>A,missense_variant,Benign,54935,,107,1614022,0.0000662940158188674,0,0,nfe,0.000060400000000000004,0.128,0.415,0.00,0.0200,-3.18,1.00,0.00,1,74932,0,0,0,59974,0,0,0,29604,0,0,0,44892,0,0,16,64022,0,0,0,6084,0,0,86,1180026,0,0,0,912,0,0,1,91088,0,0,3,62488,0,0 +17-43091924-G-A,17,43091924,rs62625308,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1203Ter,p.Arg1203Ter,c.3607C>T,stop_gained,Pathogenic,17671,lof_flag,16,1613832,0.000009914290954696647,0,0,sas,0.00000875,34.0,,0.00,0.0400,0.924,,,1,74858,0,0,0,59954,0,0,1,29604,0,0,1,44872,0,0,0,63998,0,0,0,6084,0,0,10,1179990,0,0,0,912,0,0,3,91076,0,0,0,62484,0,0 +17-43091925-G-A,17,43091925,rs1597862580,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1202Tyr,p.Tyr1202Tyr,c.3606C>T,synonymous_variant,Likely benign,823981,,1,628690,0.0000015906090442030254,0,0,,,0.597,,0.00,0.00,0.100,,,0,17690,0,0,0,43730,0,0,0,20980,0,0,0,36056,0,0,0,53126,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,1,33094,0,0 +17-43091926-TA-T,17,43091926,rs886040150,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1202ThrfsTer8,p.Tyr1202ThrfsTer8,c.3604del,frameshift_variant,Pathogenic,266391,lof_flag,1,833110,0.0000012003216862119048,0,0,,,21.4,,0.00,0.0400,-1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091928-A-G,17,43091928,rs80356830,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1201Gly,p.Gly1201Gly,c.3603T>C,synonymous_variant,Likely benign,531507,,1,1461798,6.840890465030052e-7,0,0,,,3.84,,0.00,0.0400,0.157,,,0,33476,0,0,0,44710,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5768,0,0,0,1111976,0,0,,,,,1,86254,0,0,0,60392,0,0 +17-43091929-C-T,17,43091929,rs1567790971,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1201Asp,p.Gly1201Asp,c.3602G>A,missense_variant,Conflicting interpretations of pathogenicity,630054,,1,628694,0.0000015905989241188878,0,0,,,0.784,0.455,0.00,0.150,0.296,0.0900,0.0270,0,17690,0,0,0,43730,0,0,0,20980,0,0,0,36056,0,0,0,53130,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43091930-C-T,17,43091930,rs55725337,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1201Ser,p.Gly1201Ser,c.3601G>A,missense_variant,Benign/Likely benign,54932,,19,1613974,0.000011772184682033292,0,0,nfe,0.00000953,1.51,0.395,0.00,0.0900,0.402,0.450,0.0150,0,74922,0,0,1,59988,0,0,0,29604,0,0,0,44884,0,0,0,64010,0,0,0,6084,0,0,18,1180006,0,0,0,912,0,0,0,91080,0,0,0,62484,0,0 +17-43091931-C-T,17,43091931,rs56214134,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Gln,p.Gln1200Gln,c.3600G>A,synonymous_variant,Likely benign,2450682,,8,1461796,0.000005472719859679463,0,0,nfe,0.0000031,1.57,,0.00,0.120,0.869,,,0,33476,0,0,0,44710,0,0,0,26132,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,8,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43091931-C-G,17,43091931,rs56214134,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1200His,p.Gln1200His,c.3600G>C,missense_variant,Benign/Likely benign,54930,,347,1614128,0.0002149767552511325,3,0,afr,0.0039686500000000015,17.8,0.464,0.00,0.110,0.869,0.0200,0.179,327,75046,3,0,4,60008,0,0,0,29604,0,0,0,44878,0,0,0,64028,0,0,0,6062,0,0,6,1180002,0,0,0,912,0,0,1,91082,0,0,9,62506,0,0 +17-43091931-C-A,17,43091931,rs56214134,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1200His,p.Gln1200His,c.3600G>T,missense_variant,Benign,54931,,66,1614128,0.00004088895056649782,0,0,amr,0.0004739700000000001,17.7,0.457,0.00,0.0800,0.869,0.0200,0.179,0,75046,0,0,38,60008,0,0,0,29604,0,0,1,44878,0,0,0,64028,0,0,0,6062,0,0,25,1180002,0,0,0,912,0,0,0,91082,0,0,2,62506,0,0 +17-43091932-T-C,17,43091932,rs2154300137,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Arg,p.Gln1200Arg,c.3599A>G,missense_variant,,,,1,833058,0.0000012003966110402877,0,0,,,1.09,0.532,0.00,0.100,-1.27,0.410,0.0500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761852,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091933-G-A,17,43091933,rs62625307,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1200Ter,p.Gln1200Ter,c.3598C>T,stop_gained,Pathogenic,54929,lof_flag,4,1461780,0.0000027363898808302205,0,0,nfe,2.999999999999999e-7,34.0,,0.00,0.0300,3.43,,,0,33478,0,0,0,44706,0,0,0,26132,0,0,0,39682,0,0,0,53400,0,0,0,5768,0,0,2,1111972,0,0,,,,,1,86252,0,0,1,60390,0,0 +17-43091935-G-A,17,43091935,rs587782458,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala1199Val,p.Ala1199Val,c.3596C>T,missense_variant,Conflicting interpretations of pathogenicity,142428,,28,1613958,0.00001734865467378953,0,0,eas,0.0004052800000000001,9.97,0.352,0.0100,0.0100,1.56,0.270,0.168,0,74918,0,0,0,59980,0,0,0,29600,0,0,26,44876,0,0,0,64010,0,0,0,6084,0,0,0,1180014,0,0,0,912,0,0,0,91088,0,0,2,62476,0,0 +17-43091941-TGTGTATGG-T,17,43091941,rs886040146,TGTGTATGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195PhefsTer21,p.His1195PhefsTer21,c.3582_3589del,frameshift_variant,Pathogenic,266387,lof_flag,1,628686,0.0000015906191644159405,0,0,,,23.7,,0.00,0.0100,-0.608,,,0,17690,0,0,0,43718,0,0,0,20980,0,0,0,36058,0,0,0,53126,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,1,33094,0,0 +17-43091942-G-A,17,43091942,rs2154300713,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1197Tyr,p.His1197Tyr,c.3589C>T,missense_variant,,,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,0.00400,0.414,0.00,0.00,-1.68,0.580,0.0100,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091943-T-C,17,43091943,rs876658595,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1196Thr,p.Thr1196Thr,c.3588A>G,synonymous_variant,Likely benign,230491,,3,152198,0.00001971116571834058,0,0,afr,0.00001919,1.16,,0.00,0.0400,-0.728,,,3,41458,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10618,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43091943-T-G,17,43091943,rs876658595,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1196Thr,p.Thr1196Thr,c.3588A>C,synonymous_variant,Likely benign,481439,,6,1461804,0.000004104517431885534,0,0,nfe,0.00000194,0.997,,0.00,0.00,-0.728,,,0,33476,0,0,0,44704,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,6,1111986,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43091944-G-A,17,43091944,rs80356944,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1196Ile,p.Thr1196Ile,c.3587C>T,missense_variant,Conflicting interpretations of pathogenicity,54926,,3,780984,0.00000384130788850988,0,0,,,2.71,0.370,0.00,0.00,1.36,0.0900,0.0580,0,59244,0,0,0,59006,0,0,0,24452,0,0,0,41242,0,0,0,63752,0,0,1,4442,0,0,2,418098,0,0,0,912,0,0,0,74628,0,0,0,35208,0,0 +17-43091945-T-C,17,43091945,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1196Ala,p.Thr1196Ala,c.3586A>G,missense_variant,Uncertain significance,2663340,,1,628688,0.0000015906141042933855,0,0,,,1.95,0.306,0.00,0.0200,-0.311,0.500,0.0240,0,17690,0,0,0,43718,0,0,0,20980,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33094,0,0 +17-43091947-T-C,17,43091947,rs28897685,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195Arg,p.His1195Arg,c.3584A>G,missense_variant,Conflicting interpretations of pathogenicity,142258,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,7.49,0.489,0.00,0.0600,-1.46,0.180,0.0460,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091948-G-A,17,43091948,rs876659903,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1195Tyr,p.His1195Tyr,c.3583C>T,missense_variant,Conflicting interpretations of pathogenicity,232653,,1,628674,0.0000015906495258273763,0,0,,,15.9,0.444,0.00,0.0400,1.58,0.0400,0.133,0,17688,0,0,0,43716,0,0,0,20978,0,0,0,36056,0,0,0,53124,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43091950-G-A,17,43091950,rs80357290,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194Ile,p.Thr1194Ile,c.3581C>T,missense_variant,Conflicting interpretations of pathogenicity,54922,,12,1461774,0.000008209203337862077,0,0,nfe,0.00000531,6.53,0.585,0.00,0.0400,-0.239,0.0900,0.0580,0,33474,0,0,0,44698,0,0,0,26130,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,11,1111976,0,0,,,,,0,86254,0,0,1,60392,0,0 +17-43091951-T-C,17,43091951,rs369982706,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194Ala,p.Thr1194Ala,c.3580A>G,missense_variant,Conflicting interpretations of pathogenicity,409316,,5,833108,0.000006001622838815616,0,0,nfe,0.0000019200000000000003,2.92,0.298,0.00,0.0400,-0.179,0.630,0.00600,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091952-G-GA,17,43091952,rs397509083,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1194HisfsTer25,p.Thr1194HisfsTer25,c.3578dup,frameshift_variant,Pathogenic,54920,lof_flag,1,833108,0.0000012003245677631232,0,0,,,24.3,,0.00,0.0100,-0.366,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091955-A-G,17,43091955,rs766447664,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1192Pro,p.Pro1192Pro,c.3576T>C,synonymous_variant,Likely benign,415564,,5,1613972,0.0000030979471762831077,0,0,nfe,2.8000000000000007e-7,10.7,,0.00,0.0100,1.21,,,0,74924,0,0,0,59972,0,0,2,29604,0,0,0,44892,0,0,0,64016,0,0,0,6084,0,0,2,1180002,0,0,0,912,0,0,0,91082,0,0,1,62484,0,0 +17-43091956-G-A,17,43091956,rs2154301942,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1192Leu,p.Pro1192Leu,c.3575C>T,missense_variant,,,,2,1461774,0.0000013682005563103463,0,0,nfe,2.999999999999999e-7,22.7,0.526,0.00,0.0100,2.85,0.0200,0.562,0,33474,0,0,0,44698,0,0,0,26132,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43091957-G-A,17,43091957,rs754014157,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1192Ser,p.Pro1192Ser,c.3574C>T,missense_variant,Conflicting interpretations of pathogenicity,918749,,6,780756,0.000007684859290226396,0,0,,,24.3,0.501,0.00,0.00,4.14,0.0100,0.973,0,59062,0,0,0,58974,0,0,0,24450,0,0,0,41256,0,0,2,63730,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74622,0,0,4,35184,0,0 +17-43091958-G-A,17,43091958,rs864622080,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1191Ser,p.Ser1191Ser,c.3573C>T,synonymous_variant,Likely benign,219423,,2,780868,0.000002561252349949031,0,0,,,8.63,,0.00,0.0100,1.17,,,0,59142,0,0,2,59000,0,0,0,24452,0,0,0,41264,0,0,0,63728,0,0,0,4464,0,0,0,418096,0,0,0,912,0,0,0,74624,0,0,0,35186,0,0 +17-43091959-C-T,17,43091959,rs878854948,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1191Asn,p.Ser1191Asn,c.3572G>A,missense_variant,Conflicting interpretations of pathogenicity,240794,,3,1613968,0.0000018587729124741012,0,0,nfe,6.800000000000001e-7,22.1,0.392,0.00,0.0200,4.15,0.0200,0.210,0,74926,0,0,0,59972,0,0,0,29602,0,0,0,44888,0,0,0,64018,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91086,0,0,0,62482,0,0 +17-43091960-T-C,17,43091960,rs2053563998,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1191Gly,p.Ser1191Gly,c.3571A>G,missense_variant,Conflicting interpretations of pathogenicity,924367,,1,628674,0.0000015906495258273763,0,0,,,17.7,0.309,0.0100,0.0400,1.07,0.0700,0.0480,0,17688,0,0,0,43720,0,0,0,20978,0,0,0,36058,0,0,0,53120,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33092,0,0 +17-43091962-G-A,17,43091962,rs755209182,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1190Leu,p.Pro1190Leu,c.3569C>T,missense_variant,Conflicting interpretations of pathogenicity,233875,,1,628662,0.000001590679888397899,0,0,,,21.2,0.815,0.00,0.00,4.10,0.0600,0.677,0,17690,0,0,1,43718,0,0,0,20978,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43091963-G-A,17,43091963,rs2053564906,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1190Ser,p.Pro1190Ser,c.3568C>T,missense_variant,Conflicting interpretations of pathogenicity,1732756,,1,628688,0.0000015906141042933855,0,0,,,16.3,0.566,0.00,0.00,4.11,0.230,0.780,0,17688,0,0,0,43724,0,0,0,20978,0,0,0,36062,0,0,0,53118,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43091967-C-A,17,43091967,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1188Ser,p.Arg1188Ser,c.3564G>T,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,20.0,0.588,0.00,0.0100,1.34,0.170,0.521,1,33474,0,0,0,44708,0,0,0,26132,0,0,0,39686,0,0,0,53390,0,0,0,5768,0,0,0,1111966,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43091967-C-G,17,43091967,rs879255484,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1188Ser,p.Arg1188Ser,c.3564G>C,missense_variant,Conflicting interpretations of pathogenicity,252874,,2,1613972,0.000001239178870513243,0,0,,,20.2,0.588,0.00,0.0500,1.34,0.170,0.521,0,74932,0,0,1,59986,0,0,0,29604,0,0,0,44882,0,0,0,64010,0,0,0,6084,0,0,0,1179998,0,0,0,912,0,0,0,91078,0,0,1,62486,0,0 +17-43091971-C-T,17,43091971,rs80356975,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1187Asn,p.Ser1187Asn,c.3560G>A,missense_variant,Conflicting interpretations of pathogenicity,54917,,6,780894,0.000007683501217834942,0,0,amr,0.00001349,9.31,0.372,0.00,0.0400,1.17,0.430,0.137,0,59150,0,0,3,59002,0,0,0,24450,0,0,0,41254,0,0,0,63736,0,0,0,4464,0,0,3,418114,0,0,0,912,0,0,0,74624,0,0,0,35188,0,0 +17-43091975-G-A,17,43091975,rs1555587505,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1186Phe,p.Leu1186Phe,c.3556C>T,missense_variant,Conflicting interpretations of pathogenicity,531251,,1,833108,0.0000012003245677631232,0,0,,,0.311,0.176,0.00,0.00,0.486,1.00,0.00100,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091975-G-C,17,43091975,rs1555587505,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1186Val,p.Leu1186Val,c.3556C>G,missense_variant,Conflicting interpretations of pathogenicity,1004786,,1,833108,0.0000012003245677631232,0,0,,,2.71,0.331,0.110,0.100,0.486,0.160,0.0270,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091976-C-T,17,43091976,rs587779368,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1185Glu,p.Glu1185Glu,c.3555G>A,synonymous_variant,Likely benign,1732623,,2,1461808,0.0000013681687335135667,0,0,,,0.342,,0.00,0.0400,-0.958,,,0,33476,0,0,0,44714,0,0,0,26132,0,0,1,39690,0,0,0,53392,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86254,0,0,1,60392,0,0 +17-43091976-C-A,17,43091976,rs587779368,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1185Asp,p.Glu1185Asp,c.3555G>T,missense_variant,Conflicting interpretations of pathogenicity,89059,,3,1461808,0.00000205225310027035,0,0,,,0.580,0.541,0.00,0.0200,-0.958,0.0800,0.391,0,33476,0,0,0,44714,0,0,0,26132,0,0,0,39690,0,0,0,53392,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86254,0,0,3,60392,0,0 +17-43091979-TC-T,17,43091979,,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1184GlufsTer26,p.Gly1184GlufsTer26,c.3551del,frameshift_variant,,,lof_flag,1,628710,0.000001590558445070064,0,0,,,22.8,,0.00,0.0300,2.79,,,0,17690,0,0,0,43732,0,0,0,20980,0,0,0,36064,0,0,0,53116,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43091981-C-T,17,43091981,rs1472194405,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1184Arg,p.Gly1184Arg,c.3550G>A,missense_variant,Likely benign,1732593,,1,628710,0.000001590558445070064,0,0,,,0.236,0.333,0.00,0.0100,0.544,0.940,0.0200,0,17690,0,0,1,43734,0,0,0,20980,0,0,0,36060,0,0,0,53116,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091982-T-A,17,43091982,rs2154304049,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Asn,p.Lys1183Asn,c.3549A>T,missense_variant,,,,1,628720,0.0000015905331467107776,0,0,,,11.3,0.143,0.00,0.0400,1.22,0.150,0.0250,0,17690,0,0,0,43736,0,0,0,20980,0,0,0,36062,0,0,0,53122,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091982-T-C,17,43091982,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Lys,p.Lys1183Lys,c.3549A>G,synonymous_variant,,,,1,628720,0.0000015905331467107776,0,0,,,3.42,,0.00,0.0100,1.22,,,0,17690,0,0,0,43736,0,0,0,20980,0,0,0,36062,0,0,0,53122,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091983-T-A,17,43091983,rs16942,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1183Ile,p.Lys1183Ile,c.3548A>T,missense_variant,Conflicting interpretations of pathogenicity,531339,,1,1461744,6.84114318239035e-7,0,0,,,14.9,0.375,0.00,0.0100,0.866,0.0100,0.372,0,33476,0,0,1,44708,0,0,0,26132,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,0,1111938,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091983-T-C,17,43091983,rs16942,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1183Arg,p.Lys1183Arg,c.3548A>G,missense_variant,Benign,41818,,542417,1613632,0.3361466554951811,93431,0,sas,0.49501444999999994,1.10,0.0670,0.00,0.00,0.866,1.00,0.00,17342,74962,2043,0,19309,59964,3167,0,10816,29596,1962,0,15929,44858,2879,0,25407,63946,5020,0,2241,6060,437,0,384479,1179768,62593,0,258,908,41,0,45432,91072,11641,0,21204,62498,3648,0 +17-43091985-C-G,17,43091985,rs2154304291,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1182His,p.Gln1182His,c.3546G>C,missense_variant,,,,2,1461810,0.0000013681668616304443,0,0,nfe,2.999999999999999e-7,10.6,0.476,0.00,0.00,0.689,0.0300,0.334,0,33476,0,0,0,44720,0,0,0,26132,0,0,0,39694,0,0,0,53384,0,0,0,5768,0,0,2,1111990,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43091986-T-C,17,43091986,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1182Arg,p.Gln1182Arg,c.3545A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,12.2,0.446,0.00,0.0900,0.138,0.130,0.808,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091988-G-T,17,43091988,rs1567791230,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Val,p.Val1181Val,c.3543C>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.22,,0.00,0.0100,1.52,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43091990-C-T,17,43091990,rs56336919,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1181Ile,p.Val1181Ile,c.3541G>A,missense_variant,Benign,54911,,73,1614060,0.000045227562791965604,1,0,sas,0.00018988,1.43,0.376,0.00,0.00,0.168,0.140,0.0130,2,75028,0,0,2,60010,0,0,0,29604,0,0,2,44876,0,0,0,63984,0,0,0,6062,0,0,38,1180010,0,0,0,910,0,0,25,91076,1,0,4,62500,0,0 +17-43091990-C-G,17,43091990,rs56336919,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Leu,p.Val1181Leu,c.3541G>C,missense_variant,Conflicting interpretations of pathogenicity,1346072,,2,1461798,0.0000013681780930060105,0,0,amr,0.000007410000000000001,7.49,0.500,0.00,0.00,0.168,0.0800,0.131,0,33478,0,0,2,44720,0,0,0,26132,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091990-C-A,17,43091990,rs56336919,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1181Phe,p.Val1181Phe,c.3541G>T,missense_variant,Conflicting interpretations of pathogenicity,823906,,2,1461798,0.0000013681780930060105,0,0,,,3.49,0.498,0.00,0.00,0.168,0.140,0.686,1,33478,0,0,0,44720,0,0,0,26132,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86256,0,0,0,60394,0,0 +17-43091991-G-A,17,43091991,rs928545955,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1180Ser,p.Ser1180Ser,c.3540C>T,synonymous_variant,Likely benign,381400,,5,1461798,0.000003420445232515026,0,0,nfe,2.999999999999999e-7,2.46,,0.00,0.00,1.04,,,0,33480,0,0,1,44718,0,0,0,26132,0,0,1,39694,0,0,0,53364,0,0,0,5768,0,0,2,1111992,0,0,,,,,0,86256,0,0,1,60394,0,0 +17-43091992-C-T,17,43091992,rs1064793057,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1180Asn,p.Ser1180Asn,c.3539G>A,missense_variant,Conflicting interpretations of pathogenicity,418069,,1,628712,0.0000015905533853338253,0,0,,,0.809,0.363,0.00,0.0100,0.699,0.220,0.140,0,17694,0,0,0,43732,0,0,0,20980,0,0,0,36064,0,0,0,53104,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43091998-C-T,17,43091998,rs1294360179,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1178Asn,p.Ser1178Asn,c.3533G>A,missense_variant,Conflicting interpretations of pathogenicity,441297,,2,152140,0.000013145786775338504,0,0,afr,0.000008,9.14,0.236,0.00,0.100,2.82,0.320,0.0800,2,41438,0,0,0,15268,0,0,0,3468,0,0,0,5194,0,0,0,10612,0,0,0,316,0,0,0,68022,0,0,0,910,0,0,0,4822,0,0,0,2090,0,0 +17-43091998-C-A,17,43091998,rs1294360179,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1178Ile,p.Ser1178Ile,c.3533G>T,missense_variant,Conflicting interpretations of pathogenicity,1054658,,1,833106,0.0000012003274493281767,0,0,,,16.2,0.413,0.00,0.100,2.82,0.0400,0.149,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092005-C-T,17,43092005,rs777796838,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1176Ile,p.Val1176Ile,c.3526G>A,missense_variant,Conflicting interpretations of pathogenicity,565640,,2,628702,0.000003181157368673871,0,0,,,12.9,0.483,0.00,0.00,1.40,0.0900,0.742,0,17694,0,0,0,43736,0,0,0,20982,0,0,1,36064,0,0,0,53088,0,0,1,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43092006-A-C,17,43092006,rs1131692086,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1175Ala,p.Ala1175Ala,c.3525T>G,synonymous_variant,Likely benign,427276,,1,628700,0.0000015905837442341339,0,0,,,9.19,,0.00,0.0300,0.00800,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53084,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43092006-A-G,17,43092006,rs1131692086,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1175Ala,p.Ala1175Ala,c.3525T>C,synonymous_variant,,,,1,628700,0.0000015905837442341339,0,0,,,9.48,,0.00,0.0200,0.00800,,,0,17694,0,0,0,43736,0,0,0,20982,0,0,0,36066,0,0,0,53084,0,0,1,4148,0,0,0,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43092010-G-T,17,43092010,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1174Tyr,p.Ser1174Tyr,c.3521C>A,missense_variant,,,,1,833096,0.0000012003418573609765,0,0,,,24.7,0.712,0.00,0.0100,8.79,0.00,0.999,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43092010-G-C,17,43092010,rs1055368753,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1174Cys,p.Ser1174Cys,c.3521C>G,missense_variant,Conflicting interpretations of pathogenicity,651521,,1,833096,0.0000012003418573609765,0,0,,,24.9,0.682,0.00,0.0100,8.79,0.00,0.999,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27296,0,0 +17-43092012-A-G,17,43092012,rs1597863152,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1173Ser,p.Ser1173Ser,c.3519T>C,synonymous_variant,Likely benign,759863,,1,628684,0.0000015906242245706906,0,0,,,3.03,,0.00,0.0100,-0.0670,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36064,0,0,0,53072,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43092013-C-T,17,43092013,rs746949187,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1173Asn,p.Ser1173Asn,c.3518G>A,missense_variant,Conflicting interpretations of pathogenicity,240793,,10,780884,0.000012805999354577632,0,0,nfe,0.00001209,3.80,0.226,0.0100,0.0100,0.350,0.0500,0.0390,0,59142,0,0,0,59016,0,0,0,24452,0,0,0,41266,0,0,0,63684,0,0,0,4464,0,0,10,418132,0,0,0,910,0,0,0,74628,0,0,0,35190,0,0 +17-43092016-T-C,17,43092016,rs80357206,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1172Gly,p.Glu1172Gly,c.3515A>G,missense_variant,Conflicting interpretations of pathogenicity,54907,,2,152206,0.000013140086461768918,0,0,nfe,0.00000488,25.3,0.693,0.00,0.0100,6.35,0.00,0.992,0,41436,0,0,0,15286,0,0,0,3470,0,0,0,5200,0,0,0,10624,0,0,0,316,0,0,2,68038,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43092017-C-A,17,43092017,rs397509079,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1172Ter,p.Glu1172Ter,c.3514G>T,stop_gained,Pathogenic,54906,lof_flag,1,628674,0.0000015906495258273763,0,0,,,37.0,,0.00,0.0200,7.11,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53060,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69796,0,0,1,33098,0,0 +17-43092021-A-C,17,43092021,rs183119644,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1170Met,p.Ile1170Met,c.3510T>G,missense_variant,Conflicting interpretations of pathogenicity,650534,,4,1614034,0.000002478262539698668,0,0,nfe,7.899999999999998e-7,20.2,0.584,0.00,0.0900,0.731,0.0100,0.506,0,75022,0,0,0,60012,0,0,0,29600,0,0,0,44882,0,0,0,63952,0,0,0,6062,0,0,4,1180000,0,0,0,912,0,0,0,91084,0,0,0,62508,0,0 +17-43092022-A-T,17,43092022,rs780869838,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1170Asn,p.Ile1170Asn,c.3509T>A,missense_variant,,,,1,628670,0.0000015906596465554266,0,0,,,23.0,0.517,0.00,0.0400,0.985,0.00,0.903,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53058,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43092023-T-C,17,43092023,rs273899708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1170Val,p.Ile1170Val,c.3508A>G,missense_variant,Conflicting interpretations of pathogenicity,479203,,2,1461788,0.0000013681874526265095,0,0,,,0.767,0.488,0.00,0.0300,-1.30,0.240,0.0290,0,33480,0,0,1,44722,0,0,0,26134,0,0,1,39696,0,0,0,53340,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43092026-C-A,17,43092026,rs876659269,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1169Tyr,p.Asp1169Tyr,c.3505G>T,missense_variant,Conflicting interpretations of pathogenicity,231627,,1,833102,0.0000012003332124997898,0,0,,,20.9,0.453,0.00,0.00,2.47,0.00,0.873,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092034-G-A,17,43092034,rs2154308367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1166Val,p.Ala1166Val,c.3497C>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,14.0,0.437,0.00,0.0100,0.865,0.100,0.170,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092035-C-G,17,43092035,rs745418679,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1166Pro,p.Ala1166Pro,c.3496G>C,missense_variant,Conflicting interpretations of pathogenicity,216663,,1,628662,0.000001590679888397899,0,0,,,19.9,0.476,0.00,0.0100,0.112,0.0100,0.214,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53048,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43092039-ACTAGTATCTTC-A,17,43092039,rs80357877,ACTAGTATCTTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1161PhefsTer3,p.Glu1161PhefsTer3,c.3481_3491del,frameshift_variant,Pathogenic,17684,lof_flag,3,1461770,0.0000020523064503991737,0,0,nfe,7.200000000000001e-7,27.4,,0.00,0.0400,3.41,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53320,0,0,0,5768,0,0,3,1111996,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43092040-C-A,17,43092040,rs397509075,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1164Ile,p.Ser1164Ile,c.3491G>T,missense_variant,Conflicting interpretations of pathogenicity,54900,,1,628642,0.0000015907304952580323,0,0,,,22.4,0.622,0.00,0.0800,1.87,0.00,0.354,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53034,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69796,0,0,1,33098,0,0 +17-43092043-G-C,17,43092043,rs80356918,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1163Ser,p.Thr1163Ser,c.3488C>G,missense_variant,Conflicting interpretations of pathogenicity,1419542,,2,1461736,0.0000013682361247174592,0,0,,,0.708,0.427,0.00,0.0100,-0.431,0.280,0.0130,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53302,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86256,0,0,1,60396,0,0 +17-43092043-G-A,17,43092043,rs80356918,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr1163Ile,p.Thr1163Ile,c.3488C>T,missense_variant,Likely benign,54899,,1,152278,0.000006566936786666491,0,0,,,1.45,0.398,0.00,0.00,-0.431,0.270,0.00700,0,41544,0,0,0,15284,0,0,0,3466,0,0,1,5192,0,0,0,10612,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2114,0,0 +17-43092044-T-C,17,43092044,rs769456095,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1163Ala,p.Thr1163Ala,c.3487A>G,missense_variant,Conflicting interpretations of pathogenicity,479235,,8,1461744,0.00000547291454591228,0,0,nfe,0.0000013199999999999999,13.4,0.362,0.00,0.0300,-0.124,0.150,0.0240,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53316,0,0,0,5768,0,0,5,1111980,0,0,,,,,1,86256,0,0,2,60396,0,0 +17-43092045-A-G,17,43092045,rs1555587617,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1162Asp,p.Asp1162Asp,c.3486T>C,synonymous_variant,Likely benign,482922,,1,628650,0.000001590710252127575,0,0,,,8.59,,0.00,0.0300,-0.263,,,0,17690,0,0,1,43740,0,0,0,20982,0,0,0,36066,0,0,0,53044,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69796,0,0,0,33098,0,0 +17-43092045-AT-A,17,43092045,rs80357509,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1162ValfsTer48,p.Asp1162ValfsTer48,c.3485del,frameshift_variant,Pathogenic,37531,lof_flag,3,780850,0.00000384196708714862,0,0,nfe,0.0000019100000000000003,25.0,,0.0100,0.0300,-0.263,,,0,59138,0,0,0,59008,0,0,0,24450,0,0,0,41268,0,0,0,63660,0,0,0,4464,0,0,3,418134,0,0,0,912,0,0,0,74626,0,0,0,35190,0,0 +17-43092047-C-G,17,43092047,rs1555587619,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1162His,p.Asp1162His,c.3484G>C,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,18.8,0.349,0.00,0.00,1.22,0.0300,0.0170,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092049-T-G,17,43092049,rs2053579677,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1161Ala,p.Glu1161Ala,c.3482A>C,missense_variant,Conflicting interpretations of pathogenicity,1509039,,7,1613962,0.00000433715291933763,0,0,sas,0.000021040000000000002,22.3,0.457,0.00,0.0100,1.49,0.0500,0.926,0,74926,0,0,0,59990,0,0,0,29602,0,0,0,44904,0,0,0,63936,0,0,0,6084,0,0,0,1180032,0,0,0,912,0,0,5,91088,0,0,2,62488,0,0 +17-43092050-C-T,17,43092050,rs786203438,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1161Lys,p.Glu1161Lys,c.3481G>A,missense_variant,Conflicting interpretations of pathogenicity,823822,,1,1461756,6.841087021363347e-7,0,0,,,23.9,0.591,0.00,0.00,5.94,0.0400,0.780,0,33478,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53312,0,0,0,5768,0,0,0,1111990,0,0,,,,,0,86256,0,0,0,60396,0,0 +17-43092051-C-T,17,43092051,rs2053580143,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys1160Lys,p.Lys1160Lys,c.3480G>A,synonymous_variant,Likely benign,1131870,,1,152168,0.000006571683928289785,0,0,,,5.64,,0.00,0.0600,1.92,,,1,41444,0,0,0,15256,0,0,0,3464,0,0,0,5208,0,0,0,10606,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43092052-TTTA-T,17,43092052,,TTTA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1159del,p.Ile1159del,c.3476_3478del,inframe_deletion,Uncertain significance,2585831,,2,628650,0.00000318142050425515,0,0,eas,0.00000919,13.5,,0.00,0.0200,2.29,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,53030,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092057-T-G,17,43092057,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1158Asp,p.Glu1158Asp,c.3474A>C,missense_variant,,,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,15.7,0.499,0.00,0.0100,1.18,0.340,0.411,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092063-A-G,17,43092063,rs864622146,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Asp,p.Asp1156Asp,c.3468T>C,synonymous_variant,Likely benign,219540,,24,1461768,0.000016418474067020212,0,0,nfe,0.000014599999999999999,3.54,,0.00,0.0600,0.277,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53314,0,0,0,5768,0,0,24,1112002,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092064-T-C,17,43092064,rs2154312065,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Gly,p.Asp1156Gly,c.3467A>G,missense_variant,,,,1,628660,0.0000015906849489390132,0,0,,,17.6,0.379,0.00,0.00,0.458,0.120,0.143,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,53040,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092064-T-A,17,43092064,rs2154312065,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Val,p.Asp1156Val,c.3467A>T,missense_variant,Conflicting interpretations of pathogenicity,1731692,,1,628660,0.0000015906849489390132,0,0,,,21.4,0.537,0.00,0.00,0.458,0.0200,0.688,0,17694,0,0,0,43738,0,0,0,20982,0,0,1,36068,0,0,0,53040,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092065-C-T,17,43092065,rs1064793302,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1156Asn,p.Asp1156Asn,c.3466G>A,missense_variant,Conflicting interpretations of pathogenicity,418557,,1,628650,0.000001590710252127575,0,0,,,20.3,0.406,0.00,0.0100,2.29,0.0400,0.443,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53028,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092067-T-C,17,43092067,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1155Gly,p.Asp1155Gly,c.3464A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,13.7,0.513,0.00,0.0100,0.493,0.0800,0.175,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43092068-C-G,17,43092068,rs80357484,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1155His,p.Asp1155His,c.3463G>C,missense_variant,Benign,54891,,3,1461748,0.0000020523373385836683,0,0,nfe,7.200000000000001e-7,22.8,0.518,0.00,0.0900,1.48,0.0500,0.245,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,3,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092072-C-G,17,43092072,rs1482441548,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1153Leu,p.Leu1153Leu,c.3459G>C,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,1.21,,0.00,0.0100,0.174,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43092075-G-A,17,43092075,rs2154314157,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1152Asp,p.Asp1152Asp,c.3456C>T,synonymous_variant,,,,2,985342,0.0000020297521063752485,0,0,,,1.16,,0.00,0.00,0.114,,,0,57324,0,0,0,16268,0,0,0,8624,0,0,1,8816,0,0,0,10876,0,0,0,1914,0,0,1,829920,0,0,0,910,0,0,0,21276,0,0,0,29414,0,0 +17-43092077-C-A,17,43092077,rs80357175,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1152Tyr,p.Asp1152Tyr,c.3454G>T,missense_variant,,,,1,1461736,6.841180623587296e-7,0,0,,,22.9,0.644,0.00,0.0100,2.92,0.00,0.652,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53284,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092077-C-T,17,43092077,rs80357175,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp1152Asn,p.Asp1152Asn,c.3454G>A,missense_variant,Conflicting interpretations of pathogenicity,54890,,44,1613928,0.000027262678384661523,1,0,nfe,0.00002826,16.1,0.370,0.00,0.00,2.92,0.0900,0.216,0,74926,0,0,0,59996,0,0,0,29606,0,0,0,44894,0,0,0,63900,0,0,0,6084,0,0,44,1180036,1,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43092077-C-G,17,43092077,rs80357175,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1152His,p.Asp1152His,c.3454G>C,missense_variant,Conflicting interpretations of pathogenicity,496367,,1,1461736,6.841180623587296e-7,0,0,,,22.8,0.588,0.00,0.00,2.92,0.0100,0.966,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53284,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092079-T-G,17,43092079,rs1419874153,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1151Ala,p.Asp1151Ala,c.3452A>C,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,23.7,0.560,0.00,0.00,6.36,0.00,0.901,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53020,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092082-G-C,17,43092082,rs587782752,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1150Arg,p.Pro1150Arg,c.3449C>G,missense_variant,,,,3,780806,0.000003842183589777742,0,0,eas,0.00000803,24.0,0.786,0.00,0.0100,7.03,0.00,0.998,0,59144,0,0,0,59002,0,0,0,24452,0,0,2,41268,0,0,0,63630,0,0,0,4464,0,0,1,418122,0,0,0,912,0,0,0,74620,0,0,0,35192,0,0 +17-43092083-G-A,17,43092083,rs80357272,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1150Ser,p.Pro1150Ser,c.3448C>T,missense_variant,Benign,54887,,48,1613976,0.000029740219185415396,0,0,eas,0.0007890900000000002,23.7,0.856,0.00,0.0100,7.04,0.00,0.968,0,75030,0,0,0,60016,0,0,0,29604,0,0,46,44884,0,0,0,63882,0,0,0,6062,0,0,1,1180010,0,0,0,912,0,0,0,91064,0,0,1,62512,0,0 +17-43092089-C-T,17,43092089,rs886038012,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1148Lys,p.Glu1148Lys,c.3442G>A,missense_variant,Conflicting interpretations of pathogenicity,956650,,1,833078,0.0000012003677926916808,0,0,,,23.6,0.679,0.00,0.0100,4.24,0.0100,0.829,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761872,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43092091-G-A,17,43092091,rs876660757,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1147Phe,p.Ser1147Phe,c.3440C>T,missense_variant,,,,1,152158,0.000006572115826969334,0,0,,,24.6,0.816,0.00,0.00,5.89,0.00,0.994,0,41432,0,0,0,15270,0,0,0,3468,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43092094-C-G,17,43092094,rs80357247,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1146Ser,p.Cys1146Ser,c.3437G>C,missense_variant,Conflicting interpretations of pathogenicity,54886,,1,628630,0.000001590760860919778,0,0,,,23.3,0.547,0.0400,0.100,5.03,0.00,0.986,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53012,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092096-A-G,17,43092096,rs786201222,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1145Val,p.Val1145Val,c.3435T>C,synonymous_variant,Benign/Likely benign,184013,,7,1614016,0.000004337007811570641,0,0,nfe,6.800000000000001e-7,5.37,,0.00,0.0400,1.06,,,0,75056,0,0,0,60026,0,0,0,29604,0,0,0,44894,0,0,0,63908,0,0,0,6062,0,0,3,1179966,0,0,0,912,0,0,1,91078,0,0,3,62510,0,0 +17-43092098-C-A,17,43092098,rs431825396,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1145Phe,p.Val1145Phe,c.3433G>T,missense_variant,Conflicting interpretations of pathogenicity,96912,,2,1461694,0.0000013682754393190367,0,0,,,12.7,0.556,0.0100,0.0200,-0.409,0.00,0.963,0,33478,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53268,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60396,0,0 +17-43092098-C-T,17,43092098,rs431825396,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1145Ile,p.Val1145Ile,c.3433G>A,missense_variant,Conflicting interpretations of pathogenicity,491062,,3,1461694,0.000002052413158978555,0,0,eas,0.00000835,0.0650,0.332,0.0500,0.0800,-0.409,0.580,0.130,0,33478,0,0,0,44724,0,0,0,26134,0,0,2,39698,0,0,0,53268,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60396,0,0 +17-43092099-C-T,17,43092099,rs80356922,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1144Gln,p.Gln1144Gln,c.3432G>A,synonymous_variant,Benign,187223,,2,780790,0.000002561508216037603,0,0,,,3.41,,0.0900,0.150,3.29,,,0,59132,0,0,0,59014,0,0,0,24450,0,0,0,41272,0,0,0,63608,0,0,0,4464,0,0,1,418126,0,0,0,912,0,0,0,74622,0,0,1,35190,0,0 +17-43092100-T-C,17,43092100,rs773638815,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1144Arg,p.Gln1144Arg,c.3431A>G,missense_variant,,,,2,1461544,0.0000013684158670556617,0,0,amr,0.000007410000000000001,21.7,0.631,0.0600,0.140,2.24,0.0300,0.178,0,33474,0,0,2,44724,0,0,0,26134,0,0,0,39696,0,0,0,53266,0,0,0,5768,0,0,0,1111838,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092101-G-A,17,43092101,rs80357369,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1144Ter,p.Gln1144Ter,c.3430C>T,stop_gained,Pathogenic,54883,lof_flag,2,833082,0.0000024007240583760064,0,0,nfe,4.4e-7,35.0,,0.00,0.0100,6.83,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761878,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092103-G-A,17,43092103,rs80357434,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1143Phe,p.Ser1143Phe,c.3428C>T,missense_variant,Conflicting interpretations of pathogenicity,54880,,1,628590,0.000001590862088165577,0,0,,,13.8,0.337,0.00,0.00,4.51,0.260,0.100,0,17694,0,0,0,43740,0,0,1,20982,0,0,0,36068,0,0,0,52972,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092107-C-A,17,43092107,rs80357101,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1142Ser,p.Ala1142Ser,c.3424G>T,missense_variant,Conflicting interpretations of pathogenicity,571397,,1,1461644,6.841611226810358e-7,0,0,,,0.408,0.265,0.00,0.00,0.863,0.180,0.125,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53240,0,0,1,5768,0,0,0,1111956,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092107-C-G,17,43092107,rs80357101,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1142Pro,p.Ala1142Pro,c.3424G>C,missense_variant,Conflicting interpretations of pathogenicity,54878,,1,1461644,6.841611226810358e-7,0,0,,,1.79,0.353,0.0500,0.110,0.863,0.0900,0.125,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53240,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43092108-A-G,17,43092108,rs863224419,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His1141His,p.His1141His,c.3423T>C,synonymous_variant,Likely benign,215872,,3,628592,0.000004772571079491944,0,0,nfe,9.5e-7,2.20,,0.0300,0.100,-0.197,,,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52976,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092110-GACT-G,17,43092110,rs80358337,GACT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1140del,p.Ser1140del,c.3418_3420del,inframe_deletion,Conflicting interpretations of pathogenicity,54876,,22,1613928,0.000013631339192330761,0,0,nfe,0.00001144,5.58,,0.0800,0.170,-0.0270,,,0,75064,0,0,0,60030,0,0,0,29602,0,0,0,44888,0,0,0,63834,0,0,0,6062,0,0,21,1179956,0,0,0,912,0,0,0,91072,0,0,1,62508,0,0 +17-43092111-A-T,17,43092111,rs2154317544,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1140Arg,p.Ser1140Arg,c.3420T>A,missense_variant,,,,1,628554,0.0000015909532037024663,0,0,,,9.15,0.372,0.0100,0.0600,0.777,0.0800,0.0300,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52960,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,1,33096,0,0 +17-43092113-T-C,17,43092113,rs2227945,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1140Gly,p.Ser1140Gly,c.3418A>G,missense_variant,Benign,41817,,3013,1613880,0.001866929387562892,55,0,afr,0.03341849000000001,7.78,0.0690,0.0600,0.120,1.17,0.220,0.00700,2591,75042,55,0,122,60024,0,0,0,29606,0,0,0,44892,0,0,0,63862,0,0,7,6062,0,0,141,1179892,0,0,0,912,0,0,7,91080,0,0,145,62508,0,0 +17-43092115-C-A,17,43092115,rs80357228,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1139Ile,p.Ser1139Ile,c.3416G>T,missense_variant,Benign,54873,,17,1461586,0.000011631200627263808,0,0,nfe,0.0000081,7.30,0.505,0.00,0.00,0.176,0.0300,0.210,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53224,0,0,0,5768,0,0,15,1111916,0,0,,,,,0,86254,0,0,2,60392,0,0 +17-43092119-C-A,17,43092119,rs886040126,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1138Ter,p.Gly1138Ter,c.3412G>T,stop_gained,Pathogenic,266367,lof_flag,1,152196,0.0000065704749139267785,0,0,,,28.0,,0.00,0.00,0.906,,,1,41448,0,0,0,15276,0,0,0,3468,0,0,0,5206,0,0,0,10608,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43092120-C-T,17,43092120,rs786202900,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1137Ile,p.Met1137Ile,c.3411G>A,missense_variant,Conflicting interpretations of pathogenicity,186375,,2,780732,0.0000025616985085791283,0,0,,,7.09,0.335,0.00,0.00,1.71,0.240,0.0580,0,59148,0,0,0,59012,0,0,0,24452,0,0,0,41274,0,0,0,63520,0,0,0,4464,0,0,1,418130,0,0,0,912,0,0,0,74628,0,0,1,35192,0,0 +17-43092121-A-G,17,43092121,rs80357297,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1137Thr,p.Met1137Thr,c.3410T>C,missense_variant,Conflicting interpretations of pathogenicity,54871,,3,628546,0.000004772920359050889,0,0,nfe,9.5e-7,5.52,0.399,0.0900,0.150,0.222,0.140,0.0310,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52930,0,0,0,4148,0,0,2,350092,0,0,,,,,0,69794,0,0,1,33098,0,0 +17-43092122-T-C,17,43092122,rs771479616,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1137Val,p.Met1137Val,c.3409A>G,missense_variant,Conflicting interpretations of pathogenicity,462610,,2,628540,0.000003181977280682216,0,0,eas,0.00000919,0.162,0.479,0.0200,0.0500,-1.32,0.360,0.0130,0,17694,0,0,0,43740,0,0,0,20982,0,0,2,36068,0,0,0,52924,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092124-G-C,17,43092124,rs80357329,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1136Arg,p.Pro1136Arg,c.3407C>G,missense_variant,Conflicting interpretations of pathogenicity,54869,,55,780666,0.00007045266477597333,0,0,amr,0.0007200700000000002,15.8,0.447,0.0200,0.0600,2.30,0.0100,0.399,0,59120,0,0,54,59014,0,0,0,24452,0,0,0,41270,0,0,0,63506,0,0,0,4464,0,0,0,418118,0,0,0,912,0,0,1,74618,0,0,0,35192,0,0 +17-43092125-GCTGTT-G,17,43092125,rs1555587781,GCTGTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1134AlafsTer5,p.Glu1134AlafsTer5,c.3401_3405del,frameshift_variant,Pathogenic,462609,lof_flag,1,628476,0.0000015911506565087609,0,0,,,23.9,,0.00,0.0100,1.23,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33098,0,0 +17-43092125-G-A,17,43092125,rs431825395,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1136Ser,p.Pro1136Ser,c.3406C>T,missense_variant,Conflicting interpretations of pathogenicity,823737,,3,628476,0.000004773451969526283,0,0,sas,0.000017510000000000003,9.02,0.382,0.00,0.00,1.23,0.100,0.303,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,3,69794,0,0,0,33098,0,0 +17-43092125-G-T,17,43092125,rs431825395,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1136Thr,p.Pro1136Thr,c.3406C>A,missense_variant,Conflicting interpretations of pathogenicity,96911,,4,628476,0.0000063646026260350435,0,0,,,8.75,0.489,0.00,0.00,1.23,0.110,0.424,0,17694,0,0,1,43740,0,0,3,20982,0,0,0,36068,0,0,0,52858,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43092128-G-T,17,43092128,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1135Lys,p.Gln1135Lys,c.3403C>A,missense_variant,,,,1,628474,0.000001591155720045698,0,0,,,16.4,0.518,0.00,0.00,3.43,0.0400,0.596,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,1,52862,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092128-G-A,17,43092128,rs80357136,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1135Ter,p.Gln1135Ter,c.3403C>T,stop_gained,Pathogenic,54868,lof_flag,1,152298,0.0000065660744067551775,0,0,,,35.0,,0.00,0.0100,3.43,,,0,41560,0,0,0,15298,0,0,0,3470,0,0,0,5190,0,0,0,10606,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,1,4830,0,0,0,2116,0,0 +17-43092128-G-C,17,43092128,rs80357136,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1135Glu,p.Gln1135Glu,c.3403C>G,missense_variant,Conflicting interpretations of pathogenicity,240792,,2,628474,0.000003182311440091396,0,0,,,20.2,0.542,0.180,0.220,3.43,0.0100,0.893,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,52862,0,0,0,4148,0,0,0,350092,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092130-T-A,17,43092130,rs762744684,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1134Val,p.Glu1134Val,c.3401A>T,missense_variant,Conflicting interpretations of pathogenicity,233080,,5,780704,0.000006404475960159036,0,0,amr,0.00003272999999999999,23.0,0.573,0.00,0.00,2.98,0.00,0.980,0,59146,0,0,5,59026,0,0,0,24448,0,0,0,41268,0,0,0,63500,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74618,0,0,0,35192,0,0 +17-43092131-C-A,17,43092131,rs80357018,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1134Ter,p.Glu1134Ter,c.3400G>T,stop_gained,Pathogenic,37529,lof_flag,11,1461398,0.0000075270391775546425,0,0,nfe,0.00000531,35.0,,0.0200,0.00,1.73,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39694,0,0,0,53136,0,0,0,5768,0,0,11,1111828,0,0,,,,,0,86248,0,0,0,60392,0,0 +17-43092135-G-C,17,43092135,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1132Lys,p.Asn1132Lys,c.3396C>G,missense_variant,,,,1,1461200,6.84369011771147e-7,0,0,,,4.02,0.343,0.00,0.00,-0.0350,0.150,0.418,0,33476,0,0,0,44720,0,0,0,26134,0,0,0,39694,0,0,0,53116,0,0,0,5768,0,0,1,1111668,0,0,,,,,0,86246,0,0,0,60378,0,0 +17-43092135-G-A,17,43092135,rs764013144,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1132Asn,p.Asn1132Asn,c.3396C>T,synonymous_variant,Likely benign,427334,,5,1461200,0.000003421845058855735,0,0,nfe,0.0000013199999999999999,0.686,,0.00,0.00,-0.0350,,,0,33476,0,0,0,44720,0,0,0,26134,0,0,0,39694,0,0,0,53116,0,0,0,5768,0,0,5,1111668,0,0,,,,,0,86246,0,0,0,60378,0,0 +17-43092137-T-C,17,43092137,rs530464947,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1132Asp,p.Asn1132Asp,c.3394A>G,missense_variant,Conflicting interpretations of pathogenicity,183852,,13,1613748,0.000008055780704298316,0,0,afr,0.00010232999999999998,15.7,0.259,0.0300,0.0300,1.43,0.0700,0.222,13,75062,0,0,0,60026,0,0,0,29604,0,0,0,44886,0,0,0,63736,0,0,0,6062,0,0,0,1179880,0,0,0,912,0,0,0,91074,0,0,0,62506,0,0 +17-43092140-C-T,17,43092140,rs1555587816,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp1131Asn,p.Asp1131Asn,c.3391G>A,missense_variant,Conflicting interpretations of pathogenicity,496366,,1,152200,0.00000657030223390276,0,0,,,22.0,0.485,0.00,0.0100,3.57,,,0,41450,0,0,0,15276,0,0,0,3470,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43092141-T-C,17,43092141,rs757237039,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1130Ser,p.Ser1130Ser,c.3390A>G,synonymous_variant,Likely benign,433707,,1,152222,0.000006569352655989279,0,0,,,6.42,,0.00,0.0100,0.118,,,0,41460,0,0,0,15280,0,0,0,3470,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43092146-T-A,17,43092146,rs1597863986,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1129Phe,p.Ile1129Phe,c.3385A>T,missense_variant,,,,1,832964,0.0000012005320758160017,0,0,,,8.74,0.320,0.160,0.170,0.705,0.220,0.222,0,15784,0,0,0,982,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761778,0,0,,,,,0,16456,0,0,0,27286,0,0 +17-43092148-A-C,17,43092148,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1128Arg,p.Leu1128Arg,c.3383T>G,missense_variant,,,,1,1461214,6.843624547807508e-7,0,0,,,16.7,0.573,0.00,0.0100,0.164,0.100,0.665,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52948,0,0,0,5768,0,0,1,1111832,0,0,,,,,0,86252,0,0,0,60386,0,0 +17-43092152-A-G,17,43092152,rs1451089848,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1127His,p.Tyr1127His,c.3379T>C,missense_variant,Conflicting interpretations of pathogenicity,479249,,71,1461228,0.00004858926875203596,0,0,nfe,0.00005161,16.9,0.312,0.00,0.00,-0.356,0.0100,0.00100,0,33476,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52962,0,0,0,5768,0,0,71,1111840,0,0,,,,,0,86248,0,0,0,60380,0,0 +17-43092153-T-C,17,43092153,rs1057521325,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1126Pro,p.Pro1126Pro,c.3378A>G,synonymous_variant,Likely benign,382315,,7,1613292,0.000004338954138494457,0,0,afr,0.00003470999999999999,3.65,,0.0100,0.0100,-1.67,,,6,74934,0,0,0,60012,0,0,0,29606,0,0,0,44896,0,0,0,63564,0,0,0,6084,0,0,0,1179738,0,0,0,910,0,0,1,91082,0,0,0,62466,0,0 +17-43092153-T-G,17,43092153,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1126Pro,p.Pro1126Pro,c.3378A>C,synonymous_variant,Likely benign,1730779,,2,1461042,0.0000013688860416059223,0,0,nfe,2.999999999999999e-7,3.83,,0.120,0.180,-1.67,,,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52934,0,0,0,5768,0,0,2,1111692,0,0,,,,,0,86248,0,0,0,60372,0,0 +17-43092154-G-A,17,43092154,rs80356887,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1126Leu,p.Pro1126Leu,c.3377C>T,missense_variant,Conflicting interpretations of pathogenicity,54862,,4,1460950,0.0000027379444881755024,0,0,nfe,7.200000000000001e-7,18.3,0.349,0.100,0.160,3.42,0.0200,0.289,0,33476,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52910,0,0,0,5768,0,0,3,1111634,0,0,,,,,0,86246,0,0,1,60364,0,0 +17-43092157-G-T,17,43092157,rs1555587835,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1125Tyr,p.Ser1125Tyr,c.3374C>A,missense_variant,Likely benign,433706,,2,1461120,0.0000013688129653964083,0,0,nfe,2.999999999999999e-7,11.7,0.515,0.00,0.00,2.86,0.0900,0.762,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52868,0,0,0,5768,0,0,2,1111828,0,0,,,,,0,86244,0,0,0,60380,0,0 +17-43092159-G-T,17,43092159,rs786203431,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1124Leu,p.Phe1124Leu,c.3372C>A,missense_variant,Conflicting interpretations of pathogenicity,1034479,,1,628184,0.0000015918902741871808,0,0,,,5.09,0.440,0.00,0.00,-0.167,0.170,0.0330,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52584,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43092160-A-C,17,43092160,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1124Cys,p.Phe1124Cys,c.3371T>G,missense_variant,,,,1,1461192,6.843727586792153e-7,0,0,,,22.8,0.495,0.00,0.00,2.34,0.00,0.928,1,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52886,0,0,0,5768,0,0,0,1111874,0,0,,,,,0,86248,0,0,0,60384,0,0 +17-43092164-C-A,17,43092164,rs80356867,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp1123Tyr,p.Asp1123Tyr,c.3367G>T,missense_variant,Conflicting interpretations of pathogenicity,54860,,4,628126,0.000006368149065633329,0,0,nfe,9.5e-7,19.6,0.545,0.0700,0.110,1.68,0.00,0.817,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52526,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69790,0,0,2,33092,0,0 +17-43092166-G-A,17,43092166,rs2053599251,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1122Ile,p.Thr1122Ile,c.3365C>T,missense_variant,Conflicting interpretations of pathogenicity,1044703,,1,832930,0.0000012005810812433217,0,0,,,5.51,0.421,0.0100,0.00,1.23,0.270,0.0100,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761736,0,0,,,,,0,16456,0,0,0,27292,0,0 +17-43092169-T-C,17,43092169,rs80356919,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1121Ser,p.Asn1121Ser,c.3362A>G,missense_variant,Conflicting interpretations of pathogenicity,37527,,11,780354,0.000014096166611563469,0,0,afr,0.00003267,1.96,0.241,0.00,0.0100,0.146,0.510,0.0240,5,59158,0,0,2,59030,0,0,0,24452,0,0,0,41266,0,0,0,63136,0,0,0,4464,0,0,3,418128,0,0,0,912,0,0,0,74622,0,0,1,35186,0,0 +17-43092170-T-C,17,43092170,rs876660526,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1121Asp,p.Asn1121Asp,c.3361A>G,missense_variant,Conflicting interpretations of pathogenicity,531290,,3,1461066,0.000002053295333681025,0,0,afr,0.00000989,3.90,0.308,0.00,0.00,-0.564,0.100,0.0130,2,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52764,0,0,0,5768,0,0,0,1111870,0,0,,,,,1,86248,0,0,0,60382,0,0 +17-43092170-T-G,17,43092170,rs876660526,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1121His,p.Asn1121His,c.3361A>C,missense_variant,Conflicting interpretations of pathogenicity,233620,,1,1461066,6.844317778936749e-7,0,0,,,1.88,0.311,0.00,0.00,-0.564,0.230,0.0910,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,52764,0,0,0,5768,0,0,1,1111870,0,0,,,,,0,86248,0,0,0,60382,0,0 +17-43092171-AAC-A,17,43092171,rs80357945,AAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1120Ter,p.Val1120Ter,c.3358_3359del,frameshift_variant,Pathogenic,37526,lof_flag,1,1461032,6.844477054575123e-7,0,0,,,24.2,,0.0900,0.0900,-0.0320,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52732,0,0,0,5768,0,0,1,1111862,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43092172-A-T,17,43092172,rs1361427704,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1120Asp,p.Val1120Asp,c.3359T>A,missense_variant,Conflicting interpretations of pathogenicity,489715,,5,1613232,0.000003099368224781061,0,0,nfe,0.0000012399999999999998,22.4,0.594,0.00,0.00,1.03,0.00,0.826,0,74924,0,0,0,59986,0,0,0,29606,0,0,0,44896,0,0,0,63368,0,0,0,6084,0,0,5,1179898,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 +17-43092173-C-G,17,43092173,rs748894760,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1120Leu,p.Val1120Leu,c.3358G>C,missense_variant,Conflicting interpretations of pathogenicity,811966,,1,1461038,6.844448946570863e-7,0,0,,,17.3,0.560,0.00,0.00,2.94,0.0100,0.770,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,52726,0,0,0,5768,0,0,0,1111876,0,0,,,,,1,86248,0,0,0,60390,0,0 +17-43092173-C-T,17,43092173,rs748894760,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1120Ile,p.Val1120Ile,c.3358G>A,missense_variant,Conflicting interpretations of pathogenicity,184039,,14,1613232,0.00000867823102938697,0,0,nfe,0.00000615,13.4,0.464,0.0300,0.0500,2.94,0.160,0.574,0,74924,0,0,0,59996,0,0,0,29604,0,0,1,44898,0,0,0,63344,0,0,0,6084,0,0,13,1179910,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 +17-43092175-G-A,17,43092175,rs863224759,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1119Ile,p.Thr1119Ile,c.3356C>T,missense_variant,,,,2,628000,0.0000031847133757961785,0,0,sas,0.00000476,12.5,0.575,0.0300,0.0600,0.537,0.0500,0.0650,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,52404,0,0,0,4148,0,0,0,350082,0,0,,,,,2,69792,0,0,0,33094,0,0 +17-43092176-T-A,17,43092176,rs80356949,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr1119Ser,p.Thr1119Ser,c.3355A>T,missense_variant,Conflicting interpretations of pathogenicity,54855,,20,1613288,0.000012397042561526523,0,0,nfe,0.0000103,0.824,0.407,0.0200,0.0200,0.149,0.130,0.00300,0,74942,0,0,0,59998,0,0,0,29606,0,0,0,44896,0,0,0,63332,0,0,0,6084,0,0,19,1179960,0,0,0,912,0,0,0,91078,0,0,1,62480,0,0 +17-43092177-C-A,17,43092177,rs80357334,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118His,p.Gln1118His,c.3354G>T,missense_variant,Conflicting interpretations of pathogenicity,37525,,4,1461038,0.0000027377795786283452,0,0,nfe,8.4e-7,15.0,0.567,0.0300,0.0400,1.09,0.0100,0.940,0,33472,0,0,0,44720,0,0,0,26134,0,0,0,39696,0,0,0,52686,0,0,0,5768,0,0,4,1111924,0,0,,,,,0,86248,0,0,0,60390,0,0 +17-43092177-CT-C,17,43092177,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118ArgfsTer11,p.Gln1118ArgfsTer11,c.3353del,frameshift_variant,,,lof_flag,1,1461040,6.844439577287412e-7,0,0,,,20.6,,0.120,0.120,1.09,,,0,33472,0,0,0,44720,0,0,0,26134,0,0,0,39696,0,0,0,52686,0,0,0,5768,0,0,1,1111924,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43092179-G-C,17,43092179,rs397507215,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1118Glu,p.Gln1118Glu,c.3352C>G,missense_variant,,,,1,1460950,6.844861220438756e-7,0,0,,,6.82,0.557,0.00,0.00,0.909,0.0800,0.0740,0,33474,0,0,0,44722,0,0,0,26134,0,0,0,39692,0,0,0,52630,0,0,0,5768,0,0,1,1111894,0,0,,,,,0,86248,0,0,0,60388,0,0 +17-43092180-AACT-A,17,43092180,rs2053603077,AACT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val1117del,p.Val1117del,c.3348_3350del,inframe_deletion,Uncertain significance,1730472,,1,152146,0.0000065726341803267915,0,0,,,2.59,,0.0100,0.0100,1.05,,,1,41438,0,0,0,15252,0,0,0,3468,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2082,0,0 +17-43092181-A-C,17,43092181,rs2053602865,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1117Gly,p.Val1117Gly,c.3350T>G,missense_variant,,,,2,627994,0.000003184743803284745,0,0,nfe,9.5e-7,13.9,0.518,0.00,0.00,0.793,0.110,0.175,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36064,0,0,0,52400,0,0,0,4148,0,0,2,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092184-A-ACTT,17,43092184,rs80358336,A,ACTT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1115dup,p.Glu1115dup,c.3344_3346dup,inframe_insertion,Uncertain significance,142922,,2,1460918,0.000001369002230104633,0,0,nfe,2.999999999999999e-7,0.255,,0.00,0.00,-1.19,,,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39694,0,0,0,52616,0,0,0,5768,0,0,2,1111876,0,0,,,,,0,86250,0,0,0,60388,0,0 +17-43092184-ACTT-A,17,43092184,rs80358336,ACTT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1115del,p.Glu1115del,c.3344_3346del,inframe_deletion,Benign,54852,,11,1613056,0.000006819354070782415,0,0,nfe,0.0000035900000000000004,0.317,,0.0600,0.0500,-1.19,,,1,74916,0,0,0,59982,0,0,0,29604,0,0,0,44886,0,0,0,63222,0,0,0,6084,0,0,9,1179906,0,0,0,912,0,0,0,91068,0,0,1,62476,0,0 +17-43092185-C-G,17,43092185,rs55909400,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1116Leu,p.Val1116Leu,c.3346G>C,missense_variant,Conflicting interpretations of pathogenicity,54853,,14,1612984,0.000008679565327368405,0,0,afr,0.00009217999999999997,0.00100,0.426,0.00,0.00,-1.09,0.140,0.00500,12,74884,0,0,2,59976,0,0,0,29600,0,0,0,44884,0,0,0,63198,0,0,0,6084,0,0,0,1179896,0,0,0,912,0,0,0,91076,0,0,0,62474,0,0 +17-43092186-T-G,17,43092186,rs876658243,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1115Asp,p.Glu1115Asp,c.3345A>C,missense_variant,Conflicting interpretations of pathogenicity,229872,,1,152162,0.000006571943060685322,0,0,,,0.571,0.368,0.00,0.00,-1.22,,,1,41444,0,0,0,15270,0,0,0,3472,0,0,0,5202,0,0,0,10604,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4818,0,0,0,2086,0,0 +17-43092190-T-C,17,43092190,rs2154327006,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1114Gly,p.Glu1114Gly,c.3341A>G,missense_variant,Conflicting interpretations of pathogenicity,1352647,,1,1460980,6.844720666949582e-7,0,0,,,13.6,0.355,0.00,0.0200,0.847,0.170,0.00300,0,33472,0,0,0,44720,0,0,0,26130,0,0,0,39694,0,0,0,52624,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86250,0,0,0,60388,0,0 +17-43092191-CAT-C,17,43092191,rs2053605677,CAT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr1113Ter,p.Tyr1113Ter,c.3338_3339del,frameshift_variant,,,lof_flag,1,152132,0.00000657323902926406,0,0,,,20.8,,0.00,0.100,2.42,,,0,41436,0,0,0,15264,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,314,0,0,0,68018,0,0,0,912,0,0,1,4824,0,0,0,2092,0,0 +17-43092191-C-T,17,43092191,rs80357278,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1114Lys,p.Glu1114Lys,c.3340G>A,missense_variant,Conflicting interpretations of pathogenicity,949517,,1,1460924,6.844983038132031e-7,0,0,,,16.5,0.418,0.00,0.0300,2.42,0.0500,0.00,0,33470,0,0,0,44722,0,0,0,26130,0,0,1,39694,0,0,0,52560,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86252,0,0,0,60386,0,0 +17-43092193-T-C,17,43092193,rs1225577943,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1113Cys,p.Tyr1113Cys,c.3338A>G,missense_variant,Conflicting interpretations of pathogenicity,644849,,4,1460968,0.000002737910755061028,0,0,sas,0.00000385,14.5,0.360,0.00,0.0300,0.144,0.0400,0.00700,0,33472,0,0,0,44722,0,0,0,26130,0,0,0,39694,0,0,0,52614,0,0,0,5768,0,0,1,1111930,0,0,,,,,2,86250,0,0,1,60388,0,0 +17-43092196-TCTTG-T,17,43092196,rs80357701,TCTTG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1111AsnfsTer5,p.Gln1111AsnfsTer5,c.3331_3334del,frameshift_variant,Pathogenic,37523,lof_flag,18,1613164,0.000011158195942879955,0,0,nfe,0.000006880000000000001,23.6,,0.00,0.110,0.231,,,1,74906,0,0,1,59998,0,0,0,29600,0,0,0,44892,0,0,0,63236,0,0,0,6084,0,0,14,1179986,0,0,0,912,0,0,0,91072,0,0,2,62478,0,0 +17-43092198-T-C,17,43092198,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Gln,p.Gln1111Gln,c.3333A>G,synonymous_variant,,,,1,1460988,6.844683186994006e-7,0,0,,,0.958,,0.00,0.0200,0.536,,,0,33472,0,0,0,44722,0,0,0,26130,0,0,0,39692,0,0,0,52638,0,0,0,5768,0,0,1,1111934,0,0,,,,,0,86250,0,0,0,60382,0,0 +17-43092200-G-A,17,43092200,rs80357089,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Ter,p.Gln1111Ter,c.3331C>T,stop_gained,Pathogenic,54845,lof_flag,1,1460900,6.845095489082072e-7,0,0,,,35.0,,0.00,0.130,4.10,,,0,33468,0,0,0,44724,0,0,0,26128,0,0,1,39688,0,0,0,52580,0,0,0,5768,0,0,0,1111916,0,0,,,,,0,86248,0,0,0,60380,0,0 +17-43092200-GCTT-G,17,43092200,rs80358335,GCTT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1110del,p.Lys1110del,c.3328_3330del,inframe_deletion,Conflicting interpretations of pathogenicity,54840,,264,1612992,0.00016367099154862517,1,0,sas,0.0025690000000000005,2.23,,0.00,0.0100,4.10,,,0,74892,0,0,1,59992,0,0,0,29596,0,0,0,44884,0,0,0,63164,0,0,1,6084,0,0,0,1179920,0,0,0,912,0,0,260,91080,1,0,2,62468,0,0 +17-43092200-G-T,17,43092200,rs80357089,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1111Lys,p.Gln1111Lys,c.3331C>A,missense_variant,,,,1,1460900,6.845095489082072e-7,0,0,,,13.0,0.349,0.00,0.0400,4.10,0.100,0.342,0,33468,0,0,0,44724,0,0,0,26128,0,0,0,39688,0,0,1,52580,0,0,0,5768,0,0,0,1111916,0,0,,,,,0,86248,0,0,0,60380,0,0 +17-43092201-CTTT-C,17,43092201,rs80357575,CTTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1110del,p.Lys1110del,c.3327_3329del,inframe_deletion,Conflicting interpretations of pathogenicity,125625,,14,1612574,0.000008681772123325814,0,0,nfe,0.000005,4.97,,0.00,0.0100,-0.644,,,0,74894,0,0,1,59986,0,0,0,29600,0,0,1,44878,0,0,0,63230,0,0,0,6082,0,0,11,1179960,0,0,0,912,0,0,1,90564,0,0,0,62468,0,0 +17-43092204-T-G,17,43092204,rs41293449,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys1109Asn,p.Lys1109Asn,c.3327A>C,missense_variant,Benign,37522,,94,1613220,0.000058268556055590684,0,0,nfe,0.000060480000000000004,20.3,0.363,0.00,0.00,1.01,0.0100,0.665,0,74932,0,0,0,59990,0,0,0,29600,0,0,0,44886,0,0,0,63320,0,0,0,6084,0,0,87,1179956,0,0,0,912,0,0,0,91066,0,0,7,62474,0,0 +17-43092207-T-C,17,43092207,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1108Met,p.Ile1108Met,c.3324A>G,missense_variant,Conflicting interpretations of pathogenicity,1730229,,1,833076,0.0000012003706744642745,0,0,,,1.48,0.373,0.00,0.00,-0.631,0.170,0.0270,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761878,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43092210-T-A,17,43092210,rs2154329127,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Asp,p.Glu1107Asp,c.3321A>T,missense_variant,Uncertain significance,2450677,,1,628028,0.0000015922856942684084,0,0,,,13.0,0.446,0.00,0.0100,1.43,0.0300,0.120,0,17690,0,0,0,43740,0,0,0,20974,0,0,0,36056,0,0,1,52464,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33086,0,0 +17-43092211-T-C,17,43092211,rs1597864403,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Gly,p.Glu1107Gly,c.3320A>G,missense_variant,Conflicting interpretations of pathogenicity,823606,,3,1461108,0.000002053236311073514,0,0,nfe,7.200000000000001e-7,17.0,0.368,0.00,0.00,3.73,0.0300,0.120,0,33474,0,0,0,44722,0,0,0,26126,0,0,0,39688,0,0,0,52760,0,0,0,5768,0,0,3,1111936,0,0,,,,,0,86252,0,0,0,60382,0,0 +17-43092212-C-A,17,43092212,rs80357106,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1107Ter,p.Glu1107Ter,c.3319G>T,stop_gained,Pathogenic,54836,lof_flag,1,833050,0.0000012004081387671809,0,0,,,32.0,,0.00,0.0800,2.96,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761852,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43092213-A-T,17,43092213,rs2053609439,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Pro,p.Pro1106Pro,c.3318T>A,synonymous_variant,,,,1,628064,0.0000015921944260457532,0,0,,,0.813,,0.00,0.00,-1.10,,,0,17692,0,0,0,43738,0,0,0,20974,0,0,0,36056,0,0,0,52492,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33090,0,0 +17-43092215-G-T,17,43092215,rs45599040,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Thr,p.Pro1106Thr,c.3316C>A,missense_variant,,,,1,628042,0.0000015922501998274,0,0,,,7.15,0.348,0.00,0.0500,0.400,0.180,0.0860,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52466,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33090,0,0 +17-43092215-G-C,17,43092215,rs45599040,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1106Ala,p.Pro1106Ala,c.3316C>G,missense_variant,Conflicting interpretations of pathogenicity,1703930,,1,628042,0.0000015922501998274,0,0,,,5.01,0.348,0.00,0.0400,0.400,0.300,0.133,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52466,0,0,1,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43092222-A-G,17,43092222,rs80357317,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1103Cys,p.Cys1103Cys,c.3309T>C,synonymous_variant,Uncertain significance,499284,,1,628190,0.0000015918750696445343,0,0,,,4.68,,0.00,0.00,0.830,,,0,17694,0,0,0,43738,0,0,0,20976,0,0,0,36056,0,0,0,52614,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33090,0,0 +17-43092223-C-T,17,43092223,rs80357135,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys1103Tyr,p.Cys1103Tyr,c.3308G>A,missense_variant,Conflicting interpretations of pathogenicity,419152,,34,1461200,0.000023268546400218997,0,0,nfe,0.00002201,6.57,0.505,0.00,0.00,0.400,0.230,0.119,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39684,0,0,0,52876,0,0,0,5766,0,0,34,1111920,0,0,,,,,0,86252,0,0,0,60380,0,0 +17-43092225-A-C,17,43092225,rs876658664,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1102Lys,p.Asn1102Lys,c.3306T>G,missense_variant,Uncertain significance,2565352,,1,1461274,6.843343548164136e-7,0,0,,,2.81,0.398,0.00,0.0300,-0.148,0.110,0.311,0,33480,0,0,0,44720,0,0,0,26126,0,0,0,39686,0,0,0,52906,0,0,0,5768,0,0,1,1111946,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092225-A-G,17,43092225,rs876658664,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1102Asn,p.Asn1102Asn,c.3306T>C,synonymous_variant,Likely benign,230607,,5,1613396,0.0000030990531772732795,0,0,afr,0.00001063,0.468,,0.00,0.00,-0.148,,,3,74912,0,0,0,59980,0,0,0,29592,0,0,0,44878,0,0,0,63514,0,0,0,6084,0,0,2,1179964,0,0,0,912,0,0,0,91082,0,0,0,62478,0,0 +17-43092226-T-C,17,43092226,rs80356900,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1102Ser,p.Asn1102Ser,c.3305A>G,missense_variant,Conflicting interpretations of pathogenicity,54831,,9,1613422,0.0000055782058258781644,0,0,nfe,6.800000000000001e-7,4.56,0.150,0.00,0.0200,0.112,0.170,0.156,0,74922,0,0,0,59986,0,0,6,29592,0,0,0,44886,0,0,0,63530,0,0,0,6084,0,0,3,1179958,0,0,0,912,0,0,0,91082,0,0,0,62470,0,0 +17-43092227-T-G,17,43092227,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1102His,p.Asn1102His,c.3304A>C,missense_variant,,,,1,628190,0.0000015918750696445343,0,0,,,8.59,0.376,0.00,0.00,-0.0120,0.0700,0.927,0,17692,0,0,0,43738,0,0,0,20976,0,0,0,36054,0,0,0,52624,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43092229-C-T,17,43092229,rs41293447,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1101Asn,p.Ser1101Asn,c.3302G>A,missense_variant,Benign,54830,,407,1613344,0.00025227105936489677,1,0,nfe,0.00023064,4.91,0.412,0.00,0.0100,0.342,0.200,0.263,4,74910,0,0,3,59980,0,0,0,29596,0,0,0,44874,0,0,1,63490,0,0,3,6084,0,0,301,1179942,0,0,62,912,0,0,9,91084,0,0,24,62472,1,0 +17-43092232-C-A,17,43092232,rs2154330690,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1100Val,p.Gly1100Val,c.3299G>T,missense_variant,,,,1,628204,0.0000015918395935078415,0,0,,,0.601,0.328,0.0100,0.0600,0.254,1.00,0.00,0,17692,0,0,0,43738,0,0,0,20976,0,0,1,36054,0,0,0,52636,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43092234-AG-A,17,43092234,rs80357815,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1099LeufsTer10,p.Pro1099LeufsTer10,c.3296del,frameshift_variant,Pathogenic,54824,lof_flag,1,1461328,6.843090668214118e-7,0,0,,,24.9,,0.00,0.0700,0.243,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39686,0,0,0,52972,0,0,0,5768,0,0,1,1111932,0,0,,,,,0,86254,0,0,0,60386,0,0 +17-43092235-G-A,17,43092235,rs80357201,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1099Leu,p.Pro1099Leu,c.3296C>T,missense_variant,Benign,41816,,425,1613482,0.00026340547957770836,0,0,sas,0.0006333500000000001,22.8,0.338,0.00,0.0100,2.79,0.0200,0.677,2,74986,0,0,18,59986,0,0,0,29598,0,0,1,44864,0,0,36,63546,0,0,2,6062,0,0,285,1179954,0,0,0,912,0,0,71,91076,0,0,10,62498,0,0 +17-43092239-G-A,17,43092239,rs879255291,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098Phe,p.Leu1098Phe,c.3292C>T,missense_variant,Conflicting interpretations of pathogenicity,252394,,1,628282,0.0000015916419696887704,0,0,,,8.61,0.331,0.00,0.0200,3.08,0.230,0.410,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,52698,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43092239-G-C,17,43092239,rs879255291,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098Val,p.Leu1098Val,c.3292C>G,missense_variant,,,,1,628282,0.0000015916419696887704,0,0,,,8.06,0.328,0.00,0.0100,3.08,0.120,0.418,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,52698,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33090,0,0 +17-43092241-CTT-C,17,43092241,rs80357686,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1098SerfsTer4,p.Leu1098SerfsTer4,c.3288_3289del,frameshift_variant,Pathogenic,54821,lof_flag,1,1461394,6.842781618098884e-7,0,0,,,23.7,,0.00,0.0700,0.761,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39686,0,0,0,53030,0,0,0,5768,0,0,1,1111932,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43092244-TG-T,17,43092244,rs80357533,TG,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln1096LysfsTer13,p.Gln1096LysfsTer13,c.3286del,frameshift_variant,Pathogenic,54819,lof_flag,1,152180,0.000006571165724799579,0,0,,,24.8,,0.00,0.0600,1.48,,,1,41438,0,0,0,15268,0,0,0,3470,0,0,0,5202,0,0,0,10620,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43092244-T-C,17,43092244,rs273899704,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1096Arg,p.Gln1096Arg,c.3287A>G,missense_variant,Conflicting interpretations of pathogenicity,54820,,2,1461430,0.0000013685226114148472,0,0,eas,0.00000835,21.4,0.573,0.00,0.0100,1.48,0.0200,0.410,0,33478,0,0,0,44724,0,0,0,26134,0,0,2,39684,0,0,0,53048,0,0,0,5768,0,0,0,1111952,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092245-G-T,17,43092245,rs80357485,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1096Lys,p.Gln1096Lys,c.3286C>A,missense_variant,Conflicting interpretations of pathogenicity,482959,,1,628342,0.000001591489984753526,0,0,,,22.2,0.537,0.00,0.0100,4.14,0.0200,0.540,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36054,0,0,0,52754,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092248-T-C,17,43092248,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys1095Glu,p.Lys1095Glu,c.3283A>G,missense_variant,Conflicting interpretations of pathogenicity,1729764,,1,628394,0.0000015913582879530996,0,0,,,2.51,0.471,0.00,0.0100,0.173,0.290,0.188,0,17692,0,0,0,43740,0,0,0,20982,0,0,1,36054,0,0,0,52802,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092250-T-C,17,43092250,rs1597864637,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1094Cys,p.Tyr1094Cys,c.3281A>G,missense_variant,Conflicting interpretations of pathogenicity,639392,,1,1461470,6.842425776786386e-7,0,0,,,0.00600,0.322,0.00,0.0200,-1.48,0.610,0.00,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39684,0,0,0,53080,0,0,0,5768,0,0,1,1111960,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092251-A-G,17,43092251,rs1555588026,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr1094His,p.Tyr1094His,c.3280T>C,missense_variant,Conflicting interpretations of pathogenicity,438923,,1,628400,0.000001591343093570974,0,0,,,16.8,0.447,0.00,0.00,0.952,0.280,0.642,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36054,0,0,0,52810,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092255-C-A,17,43092255,rs764458412,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Asp,p.Glu1092Asp,c.3276G>T,missense_variant,Conflicting interpretations of pathogenicity,489714,,2,1461498,0.000001368458937336897,0,0,sas,0.00000385,4.51,0.537,0.00,0.0100,0.759,0.110,0.443,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53106,0,0,0,5768,0,0,0,1111966,0,0,,,,,2,86254,0,0,0,60386,0,0 +17-43092255-C-T,17,43092255,rs764458412,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Glu,p.Glu1092Glu,c.3276G>A,synonymous_variant,,,,2,1461498,0.000001368458937336897,0,0,nfe,2.999999999999999e-7,0.734,,0.00,0.0100,0.759,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53106,0,0,0,5768,0,0,2,1111966,0,0,,,,,0,86254,0,0,0,60386,0,0 +17-43092256-T-C,17,43092256,rs751368643,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1092Gly,p.Glu1092Gly,c.3275A>G,missense_variant,Conflicting interpretations of pathogenicity,922736,,1,628422,0.0000015912873833188526,0,0,,,13.9,0.234,0.00,0.0400,0.513,0.200,0.225,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,52836,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092261-T-A,17,43092261,rs369925993,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1090His,p.Gln1090His,c.3270A>T,missense_variant,Conflicting interpretations of pathogenicity,182153,,11,1613676,0.000006816733966422008,0,0,nfe,0.000005,15.2,0.628,0.00,0.00,-0.307,0.0300,0.901,0,74916,0,0,0,59990,0,0,0,29604,0,0,0,44872,0,0,0,63746,0,0,0,6084,0,0,11,1179996,0,0,0,910,0,0,0,91076,0,0,0,62482,0,0 +17-43092261-T-C,17,43092261,rs369925993,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln1090Gln,p.Gln1090Gln,c.3270A>G,synonymous_variant,Likely benign,187419,,23,1613676,0.000014253171020700562,0,0,nfe,0.00001298,1.98,,0.00,0.0100,-0.307,,,0,74916,0,0,0,59990,0,0,0,29604,0,0,0,44872,0,0,0,63746,0,0,0,6084,0,0,23,1179996,0,0,0,910,0,0,0,91076,0,0,0,62482,0,0 +17-43092262-T-C,17,43092262,rs1555588045,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1090Arg,p.Gln1090Arg,c.3269A>G,missense_variant,Conflicting interpretations of pathogenicity,462606,,1,628454,0.0000015912063571876383,0,0,,,23.3,0.734,0.00,0.00,6.36,0.0100,0.878,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36054,0,0,0,52866,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092264-C-A,17,43092264,rs767544239,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1089Phe,p.Leu1089Phe,c.3267G>T,missense_variant,Conflicting interpretations of pathogenicity,485399,,7,1613626,0.000004338056030331688,0,0,nfe,0.00000247,20.3,0.516,0.00,0.00,3.04,0.00,0.174,0,74884,0,0,0,59986,0,0,0,29604,0,0,0,44866,0,0,0,63732,0,0,0,6084,0,0,7,1180002,0,0,0,912,0,0,0,91076,0,0,0,62480,0,0 +17-43092264-C-T,17,43092264,rs767544239,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1089Leu,p.Leu1089Leu,c.3267G>A,synonymous_variant,Likely benign,496364,,2,1461544,0.0000013684158670556617,0,0,,,5.40,,0.00,0.00,3.04,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,2,53136,0,0,0,5768,0,0,0,1111982,0,0,,,,,0,86252,0,0,0,60388,0,0 +17-43092269-C-A,17,43092269,rs2154333487,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1088Phe,p.Val1088Phe,c.3262G>T,missense_variant,Uncertain significance,2565334,,2,1461570,0.0000013683915241828993,0,0,nfe,2.999999999999999e-7,14.2,0.408,0.00,0.00,1.18,0.0200,0.00,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53162,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092270-C-A,17,43092270,rs1454692887,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1087Gly,p.Gly1087Gly,c.3261G>T,synonymous_variant,,,,1,152004,0.0000065787742427830845,0,0,,,2.98,,0.00,0.00,1.50,,,0,41372,0,0,0,15238,0,0,0,3470,0,0,0,5190,0,0,0,10582,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4822,0,0,0,2082,0,0 +17-43092271-C-G,17,43092271,rs80357172,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1087Ala,p.Gly1087Ala,c.3260G>C,missense_variant,Conflicting interpretations of pathogenicity,54812,,29,1613632,0.000017971879585927895,0,0,nfe,0.00001567,7.22,0.374,0.00,0.0100,3.38,0.0600,0.424,1,74866,0,0,0,59978,0,0,0,29606,0,0,0,44872,0,0,0,63760,0,0,0,6084,0,0,27,1179998,0,0,0,912,0,0,0,91074,0,0,1,62482,0,0 +17-43092274-A-G,17,43092274,rs80357006,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1086Ser,p.Leu1086Ser,c.3257T>C,missense_variant,Conflicting interpretations of pathogenicity,54809,,7,628504,0.000011137558392627572,0,0,nfe,9.5e-7,16.5,0.554,0.00,0.00,-0.237,0.150,0.780,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,5,52906,0,0,0,4148,0,0,2,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092278-T-C,17,43092278,rs1432504119,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1085Gly,p.Arg1085Gly,c.3253A>G,missense_variant,,,,1,628520,0.0000015910392668491059,0,0,,,17.0,0.507,0.00,0.0100,0.0320,0.0500,0.0620,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,0,52924,0,0,0,4148,0,0,1,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092281-G-T,17,43092281,rs879254009,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1084Ile,p.Leu1084Ile,c.3250C>A,missense_variant,Conflicting interpretations of pathogenicity,245941,,7,1613638,0.000004338023769891389,0,0,nfe,0.00000183,21.5,0.381,0.00,0.0100,3.42,0.0300,0.926,0,74866,0,0,0,59976,0,0,0,29602,0,0,0,44872,0,0,0,63768,0,0,0,6084,0,0,6,1179998,0,0,0,912,0,0,0,91074,0,0,1,62486,0,0 +17-43092282-C-T,17,43092282,rs1367761716,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1083Ile,p.Met1083Ile,c.3249G>A,missense_variant,Conflicting interpretations of pathogenicity,1407672,,3,1461608,0.0000020525339215439433,0,0,nfe,2.999999999999999e-7,7.05,0.185,0.00,0.0100,0.818,0.180,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53186,0,0,0,5768,0,0,2,1111990,0,0,,,,,0,86252,0,0,1,60392,0,0 +17-43092283-A-G,17,43092283,rs786203958,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1083Thr,p.Met1083Thr,c.3248T>C,missense_variant,Conflicting interpretations of pathogenicity,187732,,1,1461624,6.841704843379692e-7,0,0,,,15.0,0.321,0.00,0.00,1.80,0.0300,0.0170,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53198,0,0,0,5768,0,0,1,1111992,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092284-T-G,17,43092284,rs397507213,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1083Leu,p.Met1083Leu,c.3247A>C,missense_variant,Conflicting interpretations of pathogenicity,37517,,9,1613778,0.0000055769752716916455,0,0,nfe,0.00000292,0.0750,0.313,0.00,0.00,-0.889,0.120,0.00,0,74914,0,0,0,59994,0,0,0,29604,0,0,0,44868,0,0,0,63824,0,0,0,6084,0,0,8,1180014,0,0,0,912,0,0,0,91082,0,0,1,62482,0,0 +17-43092284-T-C,17,43092284,rs397507213,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1083Val,p.Met1083Val,c.3247A>G,missense_variant,Conflicting interpretations of pathogenicity,185061,,21,1613778,0.00001301294230061384,0,0,amr,0.00001327,0.00100,0.164,0.00,0.00,-0.889,1.00,0.00,0,74914,0,0,3,59994,0,0,0,29604,0,0,0,44868,0,0,0,63824,0,0,2,6084,0,0,16,1180014,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 +17-43092285-A-G,17,43092285,rs1241537585,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ala,p.Ala1082Ala,c.3246T>C,synonymous_variant,Likely benign,1084557,,3,1461644,0.0000020524833680431077,0,0,,,3.99,,0.00,0.00,-0.00600,,,1,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53216,0,0,0,5768,0,0,1,1111996,0,0,,,,,1,86254,0,0,0,60390,0,0 +17-43092285-A-T,17,43092285,rs1241537585,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ala,p.Ala1082Ala,c.3246T>A,synonymous_variant,Likely benign,823292,,1,1461644,6.841611226810358e-7,0,0,,,3.49,,0.00,0.00,-0.00600,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53216,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092287-C-T,17,43092287,rs779459487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Thr,p.Ala1082Thr,c.3244G>A,missense_variant,Conflicting interpretations of pathogenicity,565971,,2,1461662,0.00000136830539481768,0,0,,,7.74,0.349,0.00,0.0100,0.815,0.450,0.474,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,1,53232,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092287-C-A,17,43092287,rs779459487,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1082Ser,p.Ala1082Ser,c.3244G>T,missense_variant,Conflicting interpretations of pathogenicity,801070,,1,1461662,6.8415269740884e-7,0,0,,,8.24,0.373,0.00,0.00,0.815,0.140,0.574,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53232,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092289-T-C,17,43092289,rs753440254,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1081Ser,p.Asn1081Ser,c.3242A>G,missense_variant,Conflicting interpretations of pathogenicity,662436,,1,628552,0.0000015909582659827668,0,0,,,5.26,0.280,0.00,0.0100,-0.462,0.150,0.208,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36050,0,0,0,52956,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092290-T-C,17,43092290,rs876659928,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1081Asp,p.Asn1081Asp,c.3241A>G,missense_variant,Conflicting interpretations of pathogenicity,232694,,1,833110,0.0000012003216862119048,0,0,,,12.3,0.381,0.00,0.00,1.43,0.170,0.391,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092293-A-G,17,43092293,rs754597283,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu1080Leu,p.Leu1080Leu,c.3238T>C,synonymous_variant,Likely benign,184374,,20,1613774,0.00001239330910028294,0,0,sas,0.000021040000000000002,1.60,,0.00,0.00,-0.156,,,2,74894,0,0,3,59978,0,0,0,29606,0,0,0,44866,0,0,0,63842,0,0,0,6084,0,0,6,1180026,0,0,0,912,0,0,5,91080,0,0,4,62486,0,0 +17-43092297-T-C,17,43092297,rs876660522,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro1078Pro,p.Pro1078Pro,c.3234A>G,synonymous_variant,Likely benign,233614,,1,152196,0.0000065704749139267785,0,0,,,1.61,,0.00,0.00,-1.75,,,0,41450,0,0,0,15276,0,0,0,3470,0,0,0,5192,0,0,0,10616,0,0,0,316,0,0,1,68046,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43092298-G-A,17,43092298,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro1078Leu,p.Pro1078Leu,c.3233C>T,missense_variant,,,,1,628548,0.0000015909683906400147,0,0,,,22.1,0.403,0.00,0.0200,3.43,0.00,0.992,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36052,0,0,0,52952,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69792,0,0,0,33094,0,0 +17-43092301-C-T,17,43092301,rs1567792424,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1077Glu,p.Gly1077Glu,c.3230G>A,missense_variant,Conflicting interpretations of pathogenicity,579547,,1,1461648,6.841592503803926e-7,0,0,,,3.57,0.553,0.00,0.00,0.677,0.260,0.157,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39682,0,0,0,53224,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092301-CCT-C,17,43092301,rs80357635,CCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1077AlafsTer8,p.Gly1077AlafsTer8,c.3228_3229del,frameshift_variant,Pathogenic,37516,lof_flag,10,1461648,0.000006841592503803925,0,0,nfe,0.0000031,23.9,,0.00,0.0700,0.677,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39682,0,0,0,53224,0,0,0,5768,0,0,8,1111990,0,0,,,,,1,86254,0,0,0,60392,0,0 +17-43092303-T-C,17,43092303,rs397509048,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1076Arg,p.Arg1076Arg,c.3228A>G,synonymous_variant,,,,1,833104,0.0000012003303309070656,0,0,,,6.54,,0.00,0.0200,1.40,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092306-G-A,17,43092306,rs778607600,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1075Asn,p.Asn1075Asn,c.3225C>T,synonymous_variant,,,,1,628530,0.0000015910139531923694,0,0,,,3.37,,0.00,0.0100,1.61,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36050,0,0,0,52950,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092310-C-G,17,43092310,rs786202155,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1074Thr,p.Arg1074Thr,c.3221G>C,missense_variant,Conflicting interpretations of pathogenicity,185414,,9,985246,0.000009134774462418523,0,0,nfe,0.0000051,17.6,0.432,0.00,0.0300,2.87,0.0100,0.688,0,57204,0,0,0,16254,0,0,0,8624,0,0,0,8824,0,0,0,10878,0,0,0,1936,0,0,9,829936,0,0,0,912,0,0,0,21290,0,0,0,29388,0,0 +17-43092311-T-C,17,43092311,rs80357263,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1074Gly,p.Arg1074Gly,c.3220A>G,missense_variant,Conflicting interpretations of pathogenicity,54800,,4,780814,0.00000512285896513126,0,0,afr,0.00001344,17.0,0.462,0.00,0.00,1.36,0.0300,0.414,3,59256,0,0,0,59018,0,0,0,24450,0,0,1,41236,0,0,0,63576,0,0,0,4442,0,0,0,418090,0,0,0,912,0,0,0,74624,0,0,0,35210,0,0 +17-43092313-C-T,17,43092313,rs757632961,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1073Asp,p.Gly1073Asp,c.3218G>A,missense_variant,Conflicting interpretations of pathogenicity,630123,,3,1461618,0.0000020525198786550247,0,0,nfe,2.999999999999999e-7,1.04,0.502,0.00,0.00,-0.0870,0.180,0.0560,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39680,0,0,1,53218,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092315-T-C,17,43092315,rs1248616066,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu1072Leu,p.Leu1072Leu,c.3216A>G,synonymous_variant,,,,3,1461626,0.000002052508644482241,0,0,,,0.890,,0.00,0.00,-0.365,,,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39680,0,0,0,53226,0,0,0,5768,0,0,1,1111970,0,0,,,,,1,86254,0,0,1,60392,0,0 +17-43092318-T-C,17,43092318,rs528254652,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1071Glu,p.Glu1071Glu,c.3213A>G,synonymous_variant,Likely benign,382207,,1,152290,0.000006566419331538512,0,0,,,0.811,,0.00,0.0100,-2.91,,,0,41554,0,0,1,15278,0,0,0,3470,0,0,0,5186,0,0,0,10624,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 +17-43092320-C-T,17,43092320,rs41293445,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1071Lys,p.Glu1071Lys,c.3211G>A,missense_variant,Conflicting interpretations of pathogenicity,184828,,5,1613784,0.0000030983080759258983,0,0,nfe,0.0000012399999999999998,16.7,0.407,0.00,0.0100,2.43,0.0300,0.443,0,74884,0,0,0,59982,0,0,0,29602,0,0,0,44872,0,0,0,63856,0,0,0,6084,0,0,5,1180032,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 +17-43092322-G-C,17,43092322,rs397507212,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1070Gly,p.Ala1070Gly,c.3209C>G,missense_variant,Conflicting interpretations of pathogenicity,37515,,4,833106,0.000004801309797312707,0,0,nfe,0.0000012299999999999999,14.0,0.194,0.00,0.00,1.06,0.190,0.0840,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092325-TG-T,17,43092325,rs886040103,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln1069LysfsTer4,p.Gln1069LysfsTer4,c.3205del,frameshift_variant,Pathogenic,266342,lof_flag,1,833108,0.0000012003245677631232,0,0,,,25.0,,0.00,0.0800,1.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092327-A-G,17,43092327,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Ile,p.Ile1068Ile,c.3204T>C,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,4.96,,0.00,0.0100,-0.145,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092329-T-A,17,43092329,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Phe,p.Ile1068Phe,c.3202A>T,missense_variant,,,,1,1461714,6.841283588992101e-7,0,0,,,6.93,0.280,0.00,0.00,-0.820,0.290,0.0670,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,0,1111990,0,0,,,,,1,86254,0,0,0,60392,0,0 +17-43092329-T-C,17,43092329,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1068Val,p.Ile1068Val,c.3202A>G,missense_variant,,,,1,1461714,6.841283588992101e-7,0,0,,,3.06,0.335,0.00,0.00,-0.820,0.300,0.0230,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,1,1111990,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092340-C-T,17,43092340,rs2154337756,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1064Asn,p.Ser1064Asn,c.3191G>A,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,22.3,0.528,0.00,0.00,4.18,0.0700,0.990,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53012,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33092,0,0 +17-43092341-T-A,17,43092341,rs273899702,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1064Cys,p.Ser1064Cys,c.3190A>T,missense_variant,Conflicting interpretations of pathogenicity,54795,,2,628606,0.0000031816431914426525,0,0,nfe,9.5e-7,24.7,0.704,0.00,0.00,2.31,0.00,0.993,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53026,0,0,0,4148,0,0,2,350082,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092347-C-T,17,43092347,rs1567792594,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly1062Ser,p.Gly1062Ser,c.3184G>A,missense_variant,Conflicting interpretations of pathogenicity,628537,,1,152196,0.0000065704749139267785,0,0,,,23.1,0.622,0.00,0.00,1.99,,,0,41528,0,0,0,15258,0,0,0,3472,0,0,0,5186,0,0,0,10590,0,0,0,294,0,0,0,68024,0,0,0,912,0,0,0,4820,0,0,1,2112,0,0 +17-43092350-T-G,17,43092350,rs876658975,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1061Leu,p.Ile1061Leu,c.3181A>C,missense_variant,Conflicting interpretations of pathogenicity,482961,,1,833088,0.0000012003533840362603,0,0,,,20.5,0.481,0.00,0.00,1.46,0.00,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092350-T-C,17,43092350,rs876658975,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1061Val,p.Ile1061Val,c.3181A>G,missense_variant,Conflicting interpretations of pathogenicity,231131,,12,833088,0.000014404240608435123,0,0,nfe,0.0000084,9.29,0.415,0.00,0.0100,1.46,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,12,761882,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092353-C-A,17,43092353,rs80357424,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1060Ter,p.Glu1060Ter,c.3178G>T,stop_gained,Pathogenic,54789,lof_flag,1,628610,0.0000015908114729323427,0,0,,,36.0,,0.00,0.0600,5.84,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53024,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43092354-A-G,17,43092354,rs2154338457,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1059Asn,p.Asn1059Asn,c.3177T>C,synonymous_variant,Likely benign,1553345,,1,833096,0.0000012003418573609765,0,0,,,8.19,,0.00,0.00,0.545,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43092355-T-C,17,43092355,rs1427847949,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1059Ser,p.Asn1059Ser,c.3176A>G,missense_variant,Conflicting interpretations of pathogenicity,2037533,,1,628606,0.0000015908215957213262,0,0,,,24.0,0.418,0.00,0.0100,1.94,0.0100,0.780,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,1,53022,0,0,0,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092358-A-G,17,43092358,rs1555588264,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1058Thr,p.Ile1058Thr,c.3173T>C,missense_variant,,,,1,833098,0.0000012003389757267452,0,0,,,17.0,0.575,0.00,0.00,-0.339,0.110,0.0590,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43092360-A-G,17,43092360,rs746394738,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1057Ser,p.Ser1057Ser,c.3171T>C,synonymous_variant,Likely benign,232990,,5,1613790,0.0000030982965565532072,0,0,nfe,0.0000012399999999999998,5.47,,0.00,0.00,0.189,,,0,74892,0,0,0,59968,0,0,0,29604,0,0,0,44880,0,0,0,63914,0,0,0,6084,0,0,5,1179978,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 +17-43092361-C-T,17,43092361,rs587776487,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1057Asn,p.Ser1057Asn,c.3170G>A,missense_variant,Conflicting interpretations of pathogenicity,156191,,3,628620,0.0000047723584995704874,0,0,nfe,0.00000228,23.4,0.543,0.00,0.00,4.59,0.00,0.996,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,3,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092362-T-C,17,43092362,rs80357479,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1057Gly,p.Ser1057Gly,c.3169A>G,missense_variant,Conflicting interpretations of pathogenicity,54787,,6,1613904,0.0000037176932456949113,0,0,afr,0.00001063,23.4,0.599,0.00,0.0100,3.34,0.0400,0.880,3,74936,0,0,1,59984,0,0,0,29602,0,0,0,44880,0,0,0,63932,0,0,0,6084,0,0,1,1180008,0,0,0,912,0,0,0,91086,0,0,1,62480,0,0 +17-43092363-G-A,17,43092363,rs2154338919,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Ser,p.Ser1056Ser,c.3168C>T,synonymous_variant,,,,1,833086,0.0000012003562657396716,0,0,,,7.14,,0.00,0.0200,0.0770,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43092364-G-T,17,43092364,rs587781588,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1056Tyr,p.Ser1056Tyr,c.3167C>A,missense_variant,Conflicting interpretations of pathogenicity,1728378,,1,151944,0.000006581372084452167,0,0,,,24.1,0.577,0.00,0.00,5.62,0.00,0.998,0,41346,0,0,1,15224,0,0,0,3470,0,0,0,5188,0,0,0,10590,0,0,0,316,0,0,0,67998,0,0,0,908,0,0,0,4818,0,0,0,2086,0,0 +17-43092364-G-C,17,43092364,rs587781588,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Cys,p.Ser1056Cys,c.3167C>G,missense_variant,Conflicting interpretations of pathogenicity,141223,,2,1461698,0.0000013682716949739275,0,0,,,24.3,0.611,0.00,0.0100,5.62,0.0100,0.998,1,33480,0,0,0,44724,0,0,0,26130,0,0,0,39682,0,0,0,53308,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092364-G-A,17,43092364,rs587781588,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1056Phe,p.Ser1056Phe,c.3167C>T,missense_variant,Conflicting interpretations of pathogenicity,231051,,1,1461698,6.841358474869637e-7,0,0,,,24.6,0.620,0.00,0.0100,5.62,0.0100,0.996,0,33480,0,0,0,44724,0,0,0,26130,0,0,1,39682,0,0,0,53308,0,0,0,5768,0,0,0,1111958,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092365-A-G,17,43092365,rs876659601,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1056Pro,p.Ser1056Pro,c.3166T>C,missense_variant,Conflicting interpretations of pathogenicity,232179,,2,985152,0.0000020301435717533943,0,0,,,23.3,0.535,0.00,0.0100,0.817,0.0900,0.728,0,57182,0,0,0,16246,0,0,0,8618,0,0,1,8816,0,0,0,10878,0,0,0,1936,0,0,1,829890,0,0,0,912,0,0,0,21286,0,0,0,29388,0,0 +17-43092366-G-A,17,43092366,rs1399306338,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1055Gly,p.Gly1055Gly,c.3165C>T,synonymous_variant,Likely benign,481426,,1,628614,0.000001590801350272186,0,0,,,6.85,,0.00,0.0100,0.0650,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43092368-C-T,17,43092368,rs749417532,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1055Ser,p.Gly1055Ser,c.3163G>A,missense_variant,Conflicting interpretations of pathogenicity,630124,,1,628612,0.0000015908064115861614,0,0,,,13.6,0.537,0.00,0.00,1.45,0.110,0.308,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43092371-C-T,17,43092371,rs876658479,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val1054Met,p.Val1054Met,c.3160G>A,missense_variant,Conflicting interpretations of pathogenicity,230277,,2,780710,0.0000025617706959050097,0,0,,,16.2,0.513,0.00,0.0100,3.94,0.0300,0.957,0,59092,0,0,0,58992,0,0,0,24448,0,0,0,41246,0,0,0,63640,0,0,0,4464,0,0,2,418108,0,0,0,912,0,0,0,74620,0,0,0,35188,0,0 +17-43092372-T-C,17,43092372,rs1567792698,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1053Glu,p.Glu1053Glu,c.3159A>G,synonymous_variant,Uncertain significance,647142,,1,628620,0.0000015907861665234959,0,0,,,7.77,,0.00,0.0200,1.26,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36052,0,0,0,53038,0,0,0,4148,0,0,0,350082,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092374-C-T,17,43092374,rs786203587,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1053Lys,p.Glu1053Lys,c.3157G>A,missense_variant,,,,2,628618,0.0000031815824554817074,0,0,eas,0.00000919,23.7,0.645,0.00,0.0200,6.66,0.0100,0.994,0,17694,0,0,0,43740,0,0,0,20980,0,0,2,36052,0,0,0,53034,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092376-T-C,17,43092376,rs398122672,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1052Ser,p.Asn1052Ser,c.3155A>G,missense_variant,Conflicting interpretations of pathogenicity,91606,,2,985164,0.0000020301188431570786,0,0,,,21.7,0.504,0.00,0.0100,4.80,0.0600,0.829,1,57210,0,0,0,16248,0,0,0,8620,0,0,0,8826,0,0,0,10884,0,0,0,1936,0,0,1,829858,0,0,0,910,0,0,0,21286,0,0,0,29386,0,0 +17-43092377-T-C,17,43092377,rs768995134,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1052Asp,p.Asn1052Asp,c.3154A>G,missense_variant,Conflicting interpretations of pathogenicity,232778,,9,1461664,0.0000061573658515226486,0,0,sas,0.00002995,21.1,0.520,0.00,0.00,1.42,0.0900,0.742,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53322,0,0,0,5768,0,0,3,1111912,0,0,,,,,6,86250,0,0,0,60394,0,0 +17-43092377-T-G,17,43092377,rs768995134,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1052His,p.Asn1052His,c.3154A>C,missense_variant,,,,1,1461664,6.841517612802942e-7,0,0,,,22.8,0.522,0.00,0.00,1.42,0.0200,0.993,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53322,0,0,0,5768,0,0,1,1111912,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43092378-A-G,17,43092378,rs1057521053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1051Thr,p.Thr1051Thr,c.3153T>C,synonymous_variant,Likely benign,381500,,8,1461634,0.000005473326427819824,0,0,nfe,0.0000031,6.00,,0.00,0.00,-0.229,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53318,0,0,0,5768,0,0,8,1111886,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092380-T-C,17,43092380,rs398122671,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1051Ala,p.Thr1051Ala,c.3151A>G,missense_variant,Conflicting interpretations of pathogenicity,91605,,1,628622,0.0000015907811053383433,0,0,,,10.8,0.564,0.00,0.00,0.0160,0.150,0.0490,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53038,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092382-C-G,17,43092382,rs1597865440,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1050Thr,p.Ser1050Thr,c.3149G>C,missense_variant,Conflicting interpretations of pathogenicity,822994,,3,1461656,0.0000020524665174295455,0,0,nfe,2.999999999999999e-7,22.5,0.418,0.00,0.00,5.38,0.0100,0.979,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53316,0,0,0,5768,0,0,2,1111908,0,0,,,,,1,86252,0,0,0,60392,0,0 +17-43092387-A-G,17,43092387,rs80356837,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1048Gly,p.Gly1048Gly,c.3144T>C,synonymous_variant,Likely benign,54778,,1,628624,0.0000015907760441853954,0,0,,,6.07,,0.00,0.00,0.297,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53040,0,0,0,4146,0,0,0,350082,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092388-C-T,17,43092388,rs80356899,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly1048Asp,p.Gly1048Asp,c.3143G>A,missense_variant,Conflicting interpretations of pathogenicity,54776,,16,1613750,0.000009914794732765298,0,0,afr,0.00011214,19.9,0.391,0.00,0.00,0.958,0.0300,0.411,14,74884,0,0,0,59972,0,0,0,29602,0,0,0,44880,0,0,0,63914,0,0,0,6080,0,0,2,1179946,0,0,0,912,0,0,0,91080,0,0,0,62480,0,0 +17-43092388-C-A,17,43092388,rs80356899,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1048Val,p.Gly1048Val,c.3143G>T,missense_variant,Benign,54777,,8,1461658,0.000005473236557388938,0,0,sas,0.00000385,15.7,0.369,0.00,0.00,0.958,0.0300,0.677,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53314,0,0,0,5766,0,0,6,1111918,0,0,,,,,2,86248,0,0,0,60392,0,0 +17-43092392-CTTCATTAATA-C,17,43092392,rs730881462,CTTCATTAATA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043LysfsTer2,p.Asn1043LysfsTer2,c.3129_3138del,frameshift_variant,Pathogenic,182111,lof_flag,1,628616,0.000001590796288990417,0,0,,,25.8,,0.00,0.0700,1.74,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53030,0,0,0,4146,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092393-T-C,17,43092393,rs1567792762,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1046Glu,p.Glu1046Glu,c.3138A>G,synonymous_variant,Likely benign,1728027,,1,628608,0.000001590816534310731,0,0,,,8.45,,0.130,0.260,0.847,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36054,0,0,0,53024,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092399-A-C,17,43092399,rs1555588333,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1044Met,p.Ile1044Met,c.3132T>G,missense_variant,Conflicting interpretations of pathogenicity,441445,,1,833064,0.0000012003879653904143,0,0,,,16.9,0.482,0.00,0.00,0.296,0.0100,0.832,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43092401-T-C,17,43092401,rs80357271,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1044Val,p.Ile1044Val,c.3130A>G,missense_variant,Benign,37510,,26,1613822,0.000016110822630996478,0,0,afr,0.000017460000000000002,0.650,0.420,0.00,0.00,-0.692,0.380,0.00900,4,74906,0,0,0,59988,0,0,0,29602,0,0,0,44876,0,0,0,63912,0,0,0,6082,0,0,21,1179978,0,0,0,912,0,0,0,91084,0,0,1,62482,0,0 +17-43092402-A-G,17,43092402,rs1555588339,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043Asn,p.Asn1043Asn,c.3129T>C,synonymous_variant,Conflicting interpretations of pathogenicity,462604,,9,1461692,0.000006157247901746743,0,0,nfe,0.00000381,6.70,,0.00,0.0200,0.400,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53308,0,0,0,5766,0,0,9,1111954,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092403-T-C,17,43092403,rs1228972723,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1043Ser,p.Asn1043Ser,c.3128A>G,missense_variant,,,,2,1461688,0.000001368281055875125,0,0,,,4.62,0.194,0.00,0.0100,1.04,1.00,0.00,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39682,0,0,0,53304,0,0,0,5766,0,0,1,1111954,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092405-G-C,17,43092405,rs878854943,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1042Arg,p.Ser1042Arg,c.3126C>G,missense_variant,Conflicting interpretations of pathogenicity,240787,,4,628600,0.000006363347120585428,0,0,nfe,0.0000036699999999999996,18.0,0.469,0.00,0.00,0.959,0.160,0.175,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53014,0,0,0,4148,0,0,4,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092406-C-T,17,43092406,rs767217821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1042Asn,p.Ser1042Asn,c.3125G>A,missense_variant,Conflicting interpretations of pathogenicity,952782,,1,628610,0.0000015908114729323427,0,0,,,16.9,0.344,0.00,0.0100,4.24,0.200,0.0620,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53024,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092412-C-G,17,43092412,rs4986852,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1040Thr,p.Ser1040Thr,c.3119G>C,missense_variant,Conflicting interpretations of pathogenicity,462603,,2,1613754,0.0000012393462696296957,0,0,,,13.5,0.409,0.00,0.00,1.49,0.0800,0.987,0,74882,0,0,0,59976,0,0,0,29602,0,0,0,44882,0,0,0,63872,0,0,0,6084,0,0,0,1179982,0,0,0,912,0,0,2,91080,0,0,0,62482,0,0 +17-43092412-C-T,17,43092412,rs4986852,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser1040Asn,p.Ser1040Asn,c.3119G>A,missense_variant,Benign,17670,,31073,1613846,0.01925400564861827,338,0,nfe,0.02298923,6.61,0.376,0.00,0.00,1.49,0.210,0.831,326,75004,0,0,768,59996,6,0,589,29602,6,0,1,44870,0,0,230,63872,1,0,85,6062,2,0,27398,1179948,304,0,75,912,1,0,541,91076,6,0,1060,62504,12,0 +17-43092415-G-A,17,43092415,rs1173254670,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala1039Val,p.Ala1039Val,c.3116C>T,missense_variant,Conflicting interpretations of pathogenicity,628386,,1,151948,0.000006581198831179088,0,0,,,7.06,0.442,0.00,0.0100,0.724,,,0,41352,0,0,0,15226,0,0,0,3466,0,0,0,5190,0,0,0,10582,0,0,0,314,0,0,1,67996,0,0,0,912,0,0,0,4824,0,0,0,2086,0,0 +17-43092415-G-C,17,43092415,rs1173254670,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1039Gly,p.Ala1039Gly,c.3116C>G,missense_variant,,,,1,628592,0.0000015908570264973147,0,0,,,7.04,0.382,0.00,0.0100,0.724,0.280,0.00500,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53006,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092415-GC-G,17,43092415,rs886040098,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala1039ProfsTer9,p.Ala1039ProfsTer9,c.3115del,frameshift_variant,Pathogenic,266336,lof_flag,1,628592,0.0000015908570264973147,0,0,,,18.4,,0.00,0.0500,0.724,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53006,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092417-T-C,17,43092417,rs1479034426,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1038Glu,p.Glu1038Glu,c.3114A>G,synonymous_variant,,,,1,152122,0.000006573671132380589,0,0,,,3.88,,0.00,0.0200,0.231,,,0,41428,0,0,0,15254,0,0,1,3468,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 +17-43092418-T-C,17,43092418,rs16941,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1038Gly,p.Glu1038Gly,c.3113A>G,missense_variant,Benign,41815,,538509,1613370,0.33377898436192566,92638,0,sas,0.49444410999999994,14.1,0.227,0.00,0.0100,0.993,0.160,0.606,13305,74934,1227,0,18936,59956,3024,0,10533,29598,1859,0,15905,44862,2872,0,25339,63778,5007,0,2223,6062,437,0,385798,1179724,63037,0,260,912,41,0,45368,91048,11615,0,20842,62496,3519,0 +17-43092418-T-G,17,43092418,rs16941,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1038Ala,p.Glu1038Ala,c.3113A>C,missense_variant,Conflicting interpretations of pathogenicity,240786,,2,1461660,0.0000013683072670798954,0,0,eas,0.00000835,21.1,0.420,0.00,0.0100,0.993,0.0300,0.967,0,33480,0,0,0,44724,0,0,0,26130,0,0,2,39682,0,0,0,53278,0,0,0,5768,0,0,0,1111952,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092425-A-G,17,43092425,rs766381694,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe1036Leu,p.Phe1036Leu,c.3106T>C,missense_variant,Conflicting interpretations of pathogenicity,265049,,6,1613786,0.0000037179650833505805,0,0,nfe,0.00000183,7.50,0.225,0.00,0.0100,0.534,0.400,0.00500,0,74888,0,0,0,59980,0,0,0,29602,0,0,0,44882,0,0,0,63902,0,0,0,6084,0,0,6,1179976,0,0,0,912,0,0,0,91076,0,0,0,62484,0,0 +17-43092426-A-C,17,43092426,rs1452354450,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1035Val,p.Val1035Val,c.3105T>G,synonymous_variant,Likely benign,1343633,,1,628602,0.0000015908317186391388,0,0,,,3.54,,0.00,0.00,2.33,,,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,53020,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092430-T-G,17,43092430,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1034Thr,p.Asn1034Thr,c.3101A>C,missense_variant,Conflicting interpretations of pathogenicity,1727646,,1,833100,0.0000012003360941063497,0,0,,,0.0750,0.412,0.00,0.00,0.0930,0.260,0.147,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092431-T-C,17,43092431,rs2154342594,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1034Asp,p.Asn1034Asp,c.3100A>G,missense_variant,Conflicting interpretations of pathogenicity,1398452,,1,628612,0.0000015908064115861614,0,0,,,1.82,0.268,0.00,0.0200,0.00200,0.380,0.0270,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53030,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092434-C-T,17,43092434,rs273899698,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1033Lys,p.Glu1033Lys,c.3097G>A,missense_variant,Conflicting interpretations of pathogenicity,182152,,1,833090,0.0000012003505023466853,0,0,,,14.4,0.492,0.00,0.0100,4.78,0.0700,0.688,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761886,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43092438-A-T,17,43092438,rs786204265,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1031Ile,p.Ile1031Ile,c.3093T>A,synonymous_variant,Likely benign,188410,,6,1461696,0.000004104820701431761,0,0,nfe,0.00000194,2.04,,0.00,0.00,0.271,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53298,0,0,0,5768,0,0,6,1111968,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092439-A-C,17,43092439,rs863224758,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1031Ser,p.Ile1031Ser,c.3092T>G,missense_variant,Conflicting interpretations of pathogenicity,216661,,6,780650,0.000007685902773329918,0,0,nfe,0.0000061599999999999995,4.70,0.551,0.00,0.0100,0.271,0.650,0.342,0,59072,0,0,0,59002,0,0,0,24448,0,0,0,41244,0,0,0,63610,0,0,0,4464,0,0,6,418100,0,0,0,912,0,0,0,74614,0,0,0,35184,0,0 +17-43092440-T-C,17,43092440,rs786203979,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1031Val,p.Ile1031Val,c.3091A>G,missense_variant,Conflicting interpretations of pathogenicity,188293,,2,628612,0.0000031816128231723227,0,0,,,6.91,0.599,0.00,0.00,0.272,0.130,0.109,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,1,53034,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092440-T-A,17,43092440,rs786203979,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile1031Phe,p.Ile1031Phe,c.3091A>T,missense_variant,Conflicting interpretations of pathogenicity,187759,,1,152170,0.0000065715975553657095,0,0,,,16.1,0.562,0.00,0.00,0.272,,,1,41436,0,0,0,15268,0,0,0,3464,0,0,0,5200,0,0,0,10612,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43092441-G-A,17,43092441,rs1221088119,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1030Asn,p.Asn1030Asn,c.3090C>T,synonymous_variant,Likely benign,482893,,7,1461702,0.0000047889378272725906,0,0,nfe,0.0000026200000000000003,2.34,,0.00,0.00,1.67,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53302,0,0,0,5768,0,0,7,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092445-T-C,17,43092445,rs753286589,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1029Ser,p.Asn1029Ser,c.3086A>G,missense_variant,Conflicting interpretations of pathogenicity,630125,,1,628608,0.000001590816534310731,0,0,,,2.37,0.270,0.00,0.0100,0.233,0.320,0.574,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53022,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092448-C-T,17,43092448,rs80357459,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1028His,p.Arg1028His,c.3083G>A,missense_variant,Benign,37507,,408,1613886,0.0002528059602722869,2,0,amr,0.0048049600000000005,3.88,0.325,0.00,0.0100,0.704,0.170,0.00,12,75028,0,0,317,59992,1,0,0,29598,0,0,5,44870,0,0,0,63892,0,0,0,6062,0,0,51,1179952,0,0,0,912,0,0,6,91076,1,0,17,62504,0,0 +17-43092448-C-A,17,43092448,rs80357459,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1028Leu,p.Arg1028Leu,c.3083G>T,missense_variant,Conflicting interpretations of pathogenicity,185826,,2,1461662,0.00000136830539481768,0,0,,,3.51,0.259,0.00,0.0200,0.704,0.150,0.00,0,33480,0,0,1,44724,0,0,0,26130,0,0,0,39682,0,0,0,53292,0,0,0,5768,0,0,1,1111942,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092449-G-A,17,43092449,rs80357049,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1028Cys,p.Arg1028Cys,c.3082C>T,missense_variant,Benign,37506,,51,1613618,0.00003160599348792589,0,0,nfe,0.00002665,21.8,0.341,0.00,0.0100,4.17,0.120,0.276,0,74834,0,0,1,59964,0,0,0,29600,0,0,0,44872,0,0,0,63834,0,0,1,6080,0,0,42,1179968,0,0,0,912,0,0,5,91072,0,0,2,62482,0,0 +17-43092449-G-T,17,43092449,rs80357049,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1028Ser,p.Arg1028Ser,c.3082C>A,missense_variant,,,,1,1461676,6.841461445628169e-7,0,0,,,15.1,0.336,0.00,0.0100,4.17,0.0900,0.00700,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53288,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092450-G-A,17,43092450,rs2154343467,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1027Ser,p.Ser1027Ser,c.3081C>T,synonymous_variant,Likely benign,1078377,,4,1461676,0.0000027365845782512676,0,0,nfe,8.4e-7,5.46,,0.00,0.0100,1.11,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39680,0,0,0,53284,0,0,0,5768,0,0,4,1111968,0,0,,,,,0,86254,0,0,0,60386,0,0 +17-43092452-T-C,17,43092452,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1027Gly,p.Ser1027Gly,c.3079A>G,missense_variant,,,,1,1461720,6.841255507210683e-7,0,0,,,14.8,0.524,0.00,0.0100,1.67,0.0700,0.287,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53318,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092455-T-C,17,43092455,rs1468925322,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile1026Val,p.Ile1026Val,c.3076A>G,missense_variant,Conflicting interpretations of pathogenicity,1049110,,1,628626,0.000001590770983064652,0,0,,,0.0960,0.247,0.00,0.0100,-3.20,0.340,0.0200,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36050,0,0,0,53044,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092456-T-C,17,43092456,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1025Thr,p.Thr1025Thr,c.3075A>G,synonymous_variant,Likely benign,1727298,,3,833104,0.0000036009909927211967,0,0,nfe,0.00000105,3.62,,0.00,0.0100,0.646,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092456-T-G,17,43092456,rs786201258,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1025Thr,p.Thr1025Thr,c.3075A>C,synonymous_variant,Likely benign,184066,,9,833104,0.000010802972978163591,0,0,nfe,0.00000556,3.25,,0.00,0.00,0.646,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,9,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092459-G-T,17,43092459,rs397509033,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1024Arg,p.Ser1024Arg,c.3072C>A,missense_variant,Conflicting interpretations of pathogenicity,1727270,,1,628600,0.000001590836780146357,0,0,,,14.1,0.582,0.00,0.00,1.44,0.0600,0.334,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53018,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092460-C-G,17,43092460,rs757579891,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser1024Thr,p.Ser1024Thr,c.3071G>C,missense_variant,Conflicting interpretations of pathogenicity,224431,,1,152106,0.000006574362615544423,0,0,,,15.3,0.510,0.00,0.0100,0.150,,,0,41416,0,0,0,15250,0,0,0,3466,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43092460-C-T,17,43092460,rs757579891,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1024Asn,p.Ser1024Asn,c.3071G>A,missense_variant,Conflicting interpretations of pathogenicity,187719,,2,628610,0.0000031816229458646854,0,0,,,4.95,0.179,0.00,0.00,0.150,0.140,0.170,1,17694,0,0,0,43740,0,0,0,20980,0,0,1,36052,0,0,0,53026,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092464-CT-C,17,43092464,rs786202906,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val1023Ter,p.Val1023Ter,c.3066del,frameshift_variant,Pathogenic/Likely pathogenic,186381,lof_flag,3,833100,0.0000036010082823190495,0,0,nfe,0.00000105,23.5,,0.0400,0.140,0.0920,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092466-G-C,17,43092466,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr1022Arg,p.Thr1022Arg,c.3065C>G,missense_variant,,,,1,833080,0.0000012003649109329235,0,0,,,17.5,0.566,0.00,0.0100,2.51,0.0100,0.835,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761874,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092468-A-G,17,43092468,rs1364539273,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1021Ser,p.Ser1021Ser,c.3063T>C,synonymous_variant,Likely benign,560730,,6,833092,0.000007202085724025678,0,0,nfe,0.00000283,5.91,,0.0100,0.0100,-0.445,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092469-C-G,17,43092469,rs1414091448,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1021Thr,p.Ser1021Thr,c.3062G>C,missense_variant,Conflicting interpretations of pathogenicity,1799388,,1,628630,0.000001590760860919778,0,0,,,17.6,0.599,0.0100,0.0100,0.849,0.0200,0.928,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53050,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092471-T-C,17,43092471,rs781435355,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro1020Pro,p.Pro1020Pro,c.3060A>G,synonymous_variant,Likely benign,184695,,5,1613916,0.0000030980546695119203,0,0,eas,0.00004345999999999998,3.27,,0.00,0.00,-0.289,,,0,74932,0,0,0,59996,0,0,0,29602,0,0,5,44880,0,0,0,63954,0,0,0,6084,0,0,0,1179988,0,0,0,910,0,0,0,91086,0,0,0,62484,0,0 +17-43092476-T-C,17,43092476,rs80357311,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile1019Val,p.Ile1019Val,c.3055A>G,missense_variant,Conflicting interpretations of pathogenicity,37504,,4,780836,0.000005122714628936166,0,0,nfe,0.0000032400000000000003,0.0430,0.304,0.00,0.00,-1.76,0.330,0.0150,0,59162,0,0,0,59020,0,0,0,24446,0,0,0,41250,0,0,0,63662,0,0,0,4464,0,0,4,418108,0,0,0,912,0,0,0,74628,0,0,0,35184,0,0 +17-43092477-G-A,17,43092477,rs1429701835,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1018Asn,p.Asn1018Asn,c.3054C>T,synonymous_variant,Likely benign,491057,,4,985178,0.000004060179987778858,0,0,nfe,9.6e-7,0.506,,0.00,0.00,-0.107,,,0,57190,0,0,0,16244,0,0,0,8620,0,0,0,8830,0,0,0,10878,0,0,0,1936,0,0,3,829888,0,0,0,912,0,0,0,21290,0,0,1,29390,0,0 +17-43092478-T-TTCTCA,17,43092478,rs80357856,T,TTCTCA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1018MetfsTer8,p.Asn1018MetfsTer8,c.3048_3052dup,frameshift_variant,Pathogenic,54763,lof_flag,11,1461712,0.000007525422244600852,0,0,nfe,0.00000531,24.1,,0.00,0.0500,-0.823,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53328,0,0,0,5768,0,0,11,1111954,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092479-T-A,17,43092479,rs2154345159,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1018Tyr,p.Asn1018Tyr,c.3052A>T,missense_variant,,,,1,628642,0.0000015907304952580323,0,0,,,22.9,0.397,0.00,0.0100,1.38,0.0100,0.615,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53060,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,1,33094,0,0 +17-43092482-C-T,17,43092482,rs80357004,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1017Lys,p.Glu1017Lys,c.3049G>A,missense_variant,Conflicting interpretations of pathogenicity,970579,,1,628642,0.0000015907304952580323,0,0,,,5.94,0.521,0.00,0.00,0.577,0.0800,0.0770,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36052,0,0,0,53058,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69792,0,0,0,33094,0,0 +17-43092484-T-A,17,43092484,rs1567793123,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Ile,p.Asn1016Ile,c.3047A>T,missense_variant,,,,2,1461710,0.000001368260462061558,0,0,eas,0.00000835,18.5,0.361,0.00,0.00,-0.452,0.00,0.928,0,33480,0,0,0,44722,0,0,0,26132,0,0,2,39682,0,0,0,53340,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092484-T-C,17,43092484,rs1567793123,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Ser,p.Asn1016Ser,c.3047A>G,missense_variant,Conflicting interpretations of pathogenicity,584950,,4,1461710,0.000002736520924123116,0,0,nfe,8.4e-7,3.56,0.287,0.00,0.00,-0.452,0.370,0.0810,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,4,1111942,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092485-T-C,17,43092485,rs80357154,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1016Asp,p.Asn1016Asp,c.3046A>G,missense_variant,Conflicting interpretations of pathogenicity,54762,,1,628648,0.0000015907153128618877,0,0,,,21.9,0.385,0.00,0.0100,2.32,0.0100,0.770,1,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53070,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092487-C-T,17,43092487,rs2154345567,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly1015Glu,p.Gly1015Glu,c.3044G>A,missense_variant,,,,1,833048,0.0000012004110207334991,0,0,,,2.30,0.313,0.00,0.00,0.365,0.260,0.350,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761848,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43092490-A-T,17,43092490,rs80357020,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Lys,p.Met1014Lys,c.3041T>A,missense_variant,Conflicting interpretations of pathogenicity,54761,,10,1461722,0.0000068412461466681075,0,0,nfe,0.0000031,13.2,0.352,0.00,0.0100,-0.0650,0.0100,0.127,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,8,1111954,0,0,,,,,0,86252,0,0,2,60390,0,0 +17-43092490-A-G,17,43092490,rs80357020,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Thr,p.Met1014Thr,c.3041T>C,missense_variant,Conflicting interpretations of pathogenicity,91604,,2,1461722,0.0000013682492293336216,0,0,,,10.8,0.352,0.00,0.0100,-0.0650,0.0500,0.0170,0,33480,0,0,0,44724,0,0,2,26132,0,0,0,39682,0,0,0,53340,0,0,0,5768,0,0,0,1111954,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43092491-T-A,17,43092491,rs80356933,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1014Leu,p.Met1014Leu,c.3040A>T,missense_variant,Conflicting interpretations of pathogenicity,54760,,3,780838,0.000003842026130900391,0,0,afr,0.00001346,0.00100,0.385,0.00,0.00,-9.36,0.280,0.00100,3,59158,0,0,0,58998,0,0,0,24446,0,0,0,41252,0,0,0,63690,0,0,0,4464,0,0,0,418108,0,0,0,912,0,0,0,74628,0,0,0,35182,0,0 +17-43092491-T-C,17,43092491,rs80356933,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1014Val,p.Met1014Val,c.3040A>G,missense_variant,Conflicting interpretations of pathogenicity,54759,,1,628654,0.0000015907001307555508,0,0,,,0.00100,0.389,0.00,0.00,-9.36,0.870,0.00,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53072,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092492-TTC-T,17,43092492,rs397507208,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1013AsnfsTer4,p.Glu1013AsnfsTer4,c.3037_3038del,frameshift_variant,Pathogenic,37502,lof_flag,1,628668,0.0000015906647069677476,0,0,,,18.7,,0.00,0.0400,-0.0500,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36052,0,0,0,53080,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092496-C-G,17,43092496,rs876658464,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg1012Thr,p.Arg1012Thr,c.3035G>C,missense_variant,Conflicting interpretations of pathogenicity,844302,,1,628674,0.0000015906495258273763,0,0,,,5.59,0.474,0.00,0.00,0.277,0.220,0.821,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36052,0,0,0,53086,0,0,0,4148,0,0,0,350088,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43092497-T-C,17,43092497,rs1555588503,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg1012Gly,p.Arg1012Gly,c.3034A>G,missense_variant,Conflicting interpretations of pathogenicity,441441,,2,985288,0.0000020298633495993048,0,0,,,22.5,0.415,0.00,0.00,2.50,0.0500,0.178,2,57252,0,0,0,16254,0,0,0,8624,0,0,0,8834,0,0,0,10898,0,0,0,1936,0,0,0,829896,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 +17-43092504-T-G,17,43092504,rs1555588512,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1009Ser,p.Ser1009Ser,c.3027A>C,synonymous_variant,Conflicting interpretations of pathogenicity,462600,,2,1461694,0.0000013682754393190367,0,0,nfe,2.999999999999999e-7,2.30,,0.00,0.0200,0.0240,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53370,0,0,0,5768,0,0,2,1111902,0,0,,,,,0,86252,0,0,0,60388,0,0 +17-43092507-C-T,17,43092507,rs1800704,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1008Ile,p.Met1008Ile,c.3024G>A,missense_variant,Benign,41814,,972,1613918,0.000602261081418015,3,0,amr,0.00187858,0.203,0.452,0.00,0.00,-0.176,0.630,0.00,20,75018,0,0,131,60008,0,0,279,29598,3,0,0,44874,0,0,10,63964,0,0,14,6062,0,0,369,1179902,0,0,0,912,0,0,46,91076,0,0,103,62504,0,0 +17-43092509-T-C,17,43092509,rs56321129,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met1008Val,p.Met1008Val,c.3022A>G,missense_variant,Benign,54755,,265,1614064,0.0001641818416122285,0,0,afr,0.0026638200000000008,0.00100,0.435,0.00,0.0100,-7.76,1.00,0.00,224,75050,0,0,3,60012,0,0,0,29600,0,0,0,44872,0,0,0,63992,0,0,1,6062,0,0,26,1179976,0,0,0,912,0,0,1,91082,0,0,10,62506,0,0 +17-43092509-T-G,17,43092509,rs56321129,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1008Leu,p.Met1008Leu,c.3022A>C,missense_variant,Conflicting interpretations of pathogenicity,142775,,1,1461750,6.841115101761587e-7,0,0,,,0.00100,0.461,0.00,0.0100,-7.76,0.920,0.00,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39682,0,0,0,53372,0,0,0,5768,0,0,1,1111950,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092512-A-G,17,43092512,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser1007Pro,p.Ser1007Pro,c.3019T>C,missense_variant,,,,1,628684,0.0000015906242245706906,0,0,,,2.97,0.518,0.00,0.00,-1.16,0.210,0.0310,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53098,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092518-C-T,17,43092518,rs2154347293,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1005Lys,p.Glu1005Lys,c.3013G>A,missense_variant,,,,1,628678,0.0000015906394052281136,0,0,,,7.31,0.466,0.00,0.0100,1.20,0.420,0.145,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53098,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092519-C-T,17,43092519,rs786201784,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1004Glu,p.Glu1004Glu,c.3012G>A,synonymous_variant,Likely benign,184912,,12,1613864,0.000007435570779198247,0,0,amr,0.00005435999999999998,0.757,,0.00,0.00,2.91,,,0,74886,0,0,7,59982,0,0,0,29602,0,0,0,44878,0,0,0,63974,0,0,0,6084,0,0,4,1179982,0,0,0,912,0,0,0,91080,0,0,1,62484,0,0 +17-43092521-C-G,17,43092521,rs786202534,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1004Gln,p.Glu1004Gln,c.3010G>C,missense_variant,Conflicting interpretations of pathogenicity,185883,,8,1613884,0.00000495698575610143,0,0,nfe,0.00000292,17.8,0.402,0.00,0.0100,2.35,0.0700,0.844,0,74906,0,0,0,59972,0,0,0,29598,0,0,0,44886,0,0,0,63984,0,0,0,6084,0,0,8,1179978,0,0,0,912,0,0,0,91076,0,0,0,62488,0,0 +17-43092521-CAA-C,17,43092521,rs80357617,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1003Ter,p.Phe1003Ter,c.3008_3009del,frameshift_variant,Pathogenic,54747,lof_flag,1,1461764,6.841049581190945e-7,0,0,,,23.0,,0.00,0.0400,2.35,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53376,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092523-A-G,17,43092523,rs1344422504,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe1003Ser,p.Phe1003Ser,c.3008T>C,missense_variant,Conflicting interpretations of pathogenicity,822568,,2,628688,0.000003181228208586771,0,0,nfe,9.5e-7,5.74,0.331,0.00,0.00,-0.833,0.270,0.00700,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53112,0,0,0,4148,0,0,2,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092525-GT-G,17,43092525,rs80357601,GT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn1002ThrfsTer22,p.Asn1002ThrfsTer22,c.3005del,frameshift_variant,Pathogenic,17669,lof_flag,9,1613864,0.000005576678084398686,0,0,nfe,0.0000035900000000000004,10.4,,0.00,0.0300,-0.0190,,,0,74880,0,0,0,59978,0,0,0,29598,0,0,0,44888,0,0,0,63966,0,0,0,6084,0,0,9,1179994,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 +17-43092527-T-C,17,43092527,rs786202665,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn1002Asp,p.Asn1002Asp,c.3004A>G,missense_variant,Conflicting interpretations of pathogenicity,186062,,5,1461782,0.0000034204826711506914,0,0,nfe,0.0000013199999999999999,17.4,0.244,0.00,0.00,1.54,0.0100,0.0570,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,5,1111966,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092527-TTTCCTC-T,17,43092527,rs80358333,TTTCCTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu1000_Glu1001del,p.Glu1000_Glu1001del,c.2998_3003del,inframe_deletion,Conflicting interpretations of pathogenicity,54743,,64,1613982,0.00003965347816766234,0,0,nfe,0.00004101,11.9,,0.00,0.0100,1.54,,,2,74926,0,0,0,59988,0,0,0,29602,0,0,0,44888,0,0,0,64008,0,0,0,6084,0,0,61,1180004,0,0,0,912,0,0,0,91082,0,0,1,62488,0,0 +17-43092529-T-C,17,43092529,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1001Gly,p.Glu1001Gly,c.3002A>G,missense_variant,,,,1,832996,0.0000012004859567152783,0,0,,,14.4,0.260,0.00,0.0200,0.665,0.140,0.0490,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761794,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43092531-C-T,17,43092531,rs748410422,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Glu,p.Glu1000Glu,c.3000G>A,synonymous_variant,Likely benign,2030514,,2,1461658,0.0000013683091393472345,0,0,nfe,2.999999999999999e-7,3.48,,0.00,0.00,0.822,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,2,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092531-CT-C,17,43092531,rs80357991,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000GlyfsTer24,p.Glu1000GlyfsTer24,c.2999del,frameshift_variant,Pathogenic,54744,lof_flag,2,1461658,0.0000013683091393472345,0,0,nfe,2.999999999999999e-7,23.3,,0.00,0.0700,0.822,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,2,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092531-C-A,17,43092531,rs748410422,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Asp,p.Glu1000Asp,c.3000G>T,missense_variant,,,,2,1461658,0.0000013683091393472345,1,0,sas,0.00000385,20.0,0.492,0.00,0.00,0.822,0.0200,0.391,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,0,1111854,0,0,,,,,2,86252,1,0,0,60392,0,0 +17-43092532-T-C,17,43092532,rs1060502330,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu1000Gly,p.Glu1000Gly,c.2999A>G,missense_variant,Conflicting interpretations of pathogenicity,409306,,1,152190,0.000006570733950982325,0,0,,,16.5,0.286,0.00,0.0300,2.40,,,1,41450,0,0,0,15268,0,0,0,3468,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4828,0,0,0,2094,0,0 +17-43092533-C-T,17,43092533,rs80357124,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Lys,p.Glu1000Lys,c.2998G>A,missense_variant,Conflicting interpretations of pathogenicity,54742,,5,1461652,0.000003420786890449984,0,0,nfe,0.0000013199999999999999,14.7,0.419,0.00,0.00,4.05,0.130,0.282,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53372,0,0,0,5768,0,0,5,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092533-C-G,17,43092533,rs80357124,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu1000Gln,p.Glu1000Gln,c.2998G>C,missense_variant,Conflicting interpretations of pathogenicity,1369424,,1,1461652,6.841573780899967e-7,0,0,,,21.3,0.429,0.00,0.0100,4.05,0.0100,0.917,0,33476,0,0,1,44722,0,0,0,26132,0,0,0,39684,0,0,0,53372,0,0,0,5768,0,0,0,1111854,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43092538-A-T,17,43092538,rs1567793330,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Gln,p.Leu998Gln,c.2993T>A,missense_variant,Conflicting interpretations of pathogenicity,628929,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,15.6,0.475,0.00,0.0100,-0.119,0.100,0.996,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092538-A-G,17,43092538,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Pro,p.Leu998Pro,c.2993T>C,missense_variant,,,,1,833102,0.0000012003332124997898,0,0,,,10.6,0.444,0.00,0.00,-0.119,0.0900,0.606,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092539-G-C,17,43092539,rs876659077,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu998Val,p.Leu998Val,c.2992C>G,missense_variant,Conflicting interpretations of pathogenicity,231296,,1,833098,0.0000012003389757267452,0,0,,,13.3,0.512,0.00,0.0100,0.539,0.0300,0.831,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092540-A-ATT,17,43092540,rs80357829,A,ATT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997LysfsTer4,p.Asn997LysfsTer4,c.2989_2990dup,frameshift_variant,Pathogenic,54738,lof_flag,1,628682,0.0000015906292847576358,0,0,,,22.2,,0.0100,0.0300,0.357,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092540-A-C,17,43092540,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997Lys,p.Asn997Lys,c.2991T>G,missense_variant,,,,1,628682,0.0000015906292847576358,0,0,,,6.33,0.257,0.00,0.00,0.357,0.180,0.0860,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092541-T-C,17,43092541,rs1597866298,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn997Ser,p.Asn997Ser,c.2990A>G,missense_variant,Conflicting interpretations of pathogenicity,822444,,1,628682,0.0000015906292847576358,0,0,,,5.94,0.177,0.00,0.00,0.0220,0.340,0.0330,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53106,0,0,0,4148,0,0,0,350074,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092544-T-C,17,43092544,rs786202898,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys996Arg,p.Lys996Arg,c.2987A>G,missense_variant,Conflicting interpretations of pathogenicity,186373,,1,628678,0.0000015906394052281136,0,0,,,7.28,0.427,0.00,0.00,0.569,0.160,0.175,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53106,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092548-T-C,17,43092548,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys995Glu,p.Lys995Glu,c.2983A>G,missense_variant,Conflicting interpretations of pathogenicity,1798417,,1,628674,0.0000015906495258273763,0,0,,,5.29,0.370,0.00,0.00,0.461,0.100,0.0310,0,17694,0,0,0,43738,0,0,0,20980,0,0,1,36054,0,0,0,53104,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092548-TAC-T,17,43092548,rs397507207,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys994Ter,p.Cys994Ter,c.2981_2982del,frameshift_variant,Pathogenic,37495,lof_flag,1,628674,0.0000015906495258273763,0,0,,,22.3,,0.00,0.0100,0.461,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43092550-C-A,17,43092550,rs1238452758,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys994Phe,p.Cys994Phe,c.2981G>T,missense_variant,Conflicting interpretations of pathogenicity,655973,,1,1461778,6.840984061875333e-7,0,0,,,7.54,0.325,0.00,0.00,0.605,0.410,0.0430,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53380,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43092550-C-T,17,43092550,rs1238452758,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys994Tyr,p.Cys994Tyr,c.2981G>A,missense_variant,Conflicting interpretations of pathogenicity,482925,,2,1613880,0.0000012392495104964434,0,0,,,4.26,0.287,0.00,0.00,0.605,0.810,0.00900,0,74894,0,0,2,59980,0,0,0,29602,0,0,0,44888,0,0,0,63982,0,0,0,6084,0,0,0,1179980,0,0,0,912,0,0,0,91074,0,0,0,62484,0,0 +17-43092551-A-G,17,43092551,rs144853230,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys994Arg,p.Cys994Arg,c.2980T>C,missense_variant,Conflicting interpretations of pathogenicity,193694,,2,985320,0.0000020297974262168635,0,0,,,8.09,0.346,0.00,0.00,-0.151,0.270,0.0150,1,57318,0,0,0,16262,0,0,0,8620,0,0,0,8816,0,0,0,10872,0,0,0,1914,0,0,0,829912,0,0,0,912,0,0,0,21286,0,0,1,29408,0,0 +17-43092552-T-C,17,43092552,rs772854836,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys993Lys,p.Lys993Lys,c.2979A>G,synonymous_variant,Likely benign,183786,,37,1461778,0.00002531164102893873,0,0,sas,0.00028991000000000016,2.82,,0.00,0.00,-0.532,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,1,1111968,0,0,,,,,34,86252,0,0,2,60394,0,0 +17-43092553-T-A,17,43092553,rs1391565083,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys993Ile,p.Lys993Ile,c.2978A>T,missense_variant,,,,1,628678,0.0000015906394052281136,0,0,,,1.93,0.236,0.00,0.00,-0.692,0.230,0.00500,0,17694,0,0,1,43738,0,0,0,20980,0,0,0,36054,0,0,0,53104,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092555-A-G,17,43092555,rs1429867282,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr992Thr,p.Thr992Thr,c.2976T>C,synonymous_variant,,,,1,152110,0.00000657418973111564,0,0,,,2.87,,0.00,0.00,0.122,,,0,41412,0,0,0,15262,0,0,0,3470,0,0,0,5198,0,0,0,10608,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43092556-GT-G,17,43092556,rs2053663370,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr992LeufsTer8,p.Thr992LeufsTer8,c.2974del,frameshift_variant,Pathogenic,853416,lof_flag,1,628672,0.0000015906545861753029,0,0,,,21.7,,0.00,0.0300,0.634,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36052,0,0,0,53100,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69792,0,0,1,33096,0,0 +17-43092562-A-G,17,43092562,rs760588785,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val990Ala,p.Val990Ala,c.2969T>C,missense_variant,Conflicting interpretations of pathogenicity,233926,,4,1461792,0.000002736367417525886,0,0,eas,0.00003349,6.52,0.447,0.0100,0.00,1.26,0.110,0.418,0,33480,0,0,0,44722,0,0,0,26132,0,0,4,39684,0,0,0,53390,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43092564-A-G,17,43092564,rs876659270,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Phe,p.Phe989Phe,c.2967T>C,synonymous_variant,,,,3,1461794,0.0000020522727552582648,0,0,sas,0.00000924,3.74,,0.0100,0.0100,0.231,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,3,86252,0,0,0,60394,0,0 +17-43092564-A-T,17,43092564,rs876659270,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Leu,p.Phe989Leu,c.2967T>A,missense_variant,Conflicting interpretations of pathogenicity,231629,,1,1461794,6.840909184194216e-7,0,0,,,8.66,0.311,0.00,0.0100,0.231,0.330,0.0100,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,1,60394,0,0 +17-43092565-A-G,17,43092565,rs4986848,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe989Ser,p.Phe989Ser,c.2966T>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.16,0.220,0.0200,0.0100,0.636,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43092567-T-C,17,43092567,rs1064796061,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser988Ser,p.Ser988Ser,c.2964A>G,synonymous_variant,Conflicting interpretations of pathogenicity,422874,,15,1461784,0.00001026143397382924,0,0,eas,0.00013582999999999998,2.92,,0.00,0.00,0.451,,,0,33478,0,0,0,44720,0,0,0,26132,0,0,10,39684,0,0,0,53392,0,0,0,5768,0,0,5,1111964,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092568-G-A,17,43092568,rs397507206,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser988Leu,p.Ser988Leu,c.2963C>T,missense_variant,Conflicting interpretations of pathogenicity,37494,,6,780732,0.000007685095525737385,0,0,nfe,0.0000045,8.93,0.449,0.00,0.0100,3.18,0.0800,0.302,0,59110,0,0,1,58998,0,0,0,24448,0,0,0,41252,0,0,0,63688,0,0,0,4460,0,0,5,418090,0,0,0,912,0,0,0,74592,0,0,0,35182,0,0 +17-43092571-T-C,17,43092571,rs876659990,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys987Arg,p.Lys987Arg,c.2960A>G,missense_variant,Conflicting interpretations of pathogenicity,232789,,13,1461798,0.000008893157604539068,0,0,nfe,0.00000652,0.00100,0.183,0.00,0.0200,-1.20,1.00,0.00,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,13,1111982,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092571-T-A,17,43092571,rs876659990,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys987Met,p.Lys987Met,c.2960A>T,missense_variant,,,,1,1461798,6.840890465030052e-7,0,0,,,0.0820,0.413,0.00,0.0100,-1.20,0.0700,0.0450,0,33480,0,0,0,44720,0,0,0,26132,0,0,0,39684,0,0,0,53386,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092581-A-G,17,43092581,rs1597866542,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe984Leu,p.Phe984Leu,c.2950T>C,missense_variant,Conflicting interpretations of pathogenicity,822349,,2,1461816,0.0000013681612460118099,0,0,sas,0.00000385,17.3,0.289,0.0100,0.00,2.20,0.0200,0.00,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53400,0,0,0,5768,0,0,0,1111984,0,0,,,,,2,86252,0,0,0,60392,0,0 +17-43092588-T-A,17,43092588,rs587780799,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro981Pro,p.Pro981Pro,c.2943A>T,synonymous_variant,Likely benign,136083,,6,1613948,0.0000037175918926756003,0,0,nfe,0.0000012399999999999998,7.81,,0.00,0.00,0.147,,,0,74914,0,0,0,59984,0,0,0,29604,0,0,0,44878,0,0,0,64012,0,0,0,6084,0,0,5,1180002,0,0,0,912,0,0,0,91076,0,0,1,62482,0,0 +17-43092589-G-A,17,43092589,rs876659025,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro981Leu,p.Pro981Leu,c.2942C>T,missense_variant,,,,1,152052,0.0000065766974456107125,0,0,,,23.0,0.326,0.00,0.0100,3.16,0.0400,0.889,1,41428,0,0,0,15232,0,0,0,3468,0,0,0,5198,0,0,0,10574,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4814,0,0,0,2090,0,0 +17-43092590-G-T,17,43092590,rs1555588677,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro981Thr,p.Pro981Thr,c.2941C>A,missense_variant,Conflicting interpretations of pathogenicity,531238,,2,833100,0.0000024006721882126994,0,0,nfe,4.4e-7,16.3,0.386,0.00,0.0100,2.00,0.0800,0.540,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092593-T-G,17,43092593,rs2154351490,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile980Leu,p.Ile980Leu,c.2938A>C,missense_variant,,,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,10.2,0.299,0.0200,0.0100,0.288,0.280,0.119,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092593-T-C,17,43092593,rs2154351490,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile980Val,p.Ile980Val,c.2938A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,6.15,0.296,0.0100,0.00,0.288,0.770,0.119,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092595-C-T,17,43092595,rs80356985,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg979His,p.Arg979His,c.2936G>A,missense_variant,Conflicting interpretations of pathogenicity,54728,,12,1613814,0.000007435801151805598,0,0,afr,0.00001747,1.53,0.235,0.00,0.0200,-0.401,1.00,0.00,4,74872,0,0,0,59964,0,0,0,29602,0,0,1,44870,0,0,3,63980,0,0,0,6082,0,0,4,1179978,0,0,0,912,0,0,0,91072,0,0,0,62482,0,0 +17-43092596-G-A,17,43092596,rs80356970,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg979Cys,p.Arg979Cys,c.2935C>T,missense_variant,Likely benign,54727,,19,1613858,0.000011773030836665927,0,0,afr,0.00001747,19.4,0.289,0.00,0.0100,2.15,0.110,0.00,4,74886,0,0,1,59966,0,0,0,29602,0,0,0,44882,0,0,0,63992,0,0,2,6084,0,0,10,1179980,0,0,0,912,0,0,0,91072,0,0,2,62482,0,0 +17-43092597-A-C,17,43092597,rs80357115,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978Ter,p.Tyr978Ter,c.2934T>G,stop_gained,Pathogenic,37493,lof_flag,1,628726,0.0000015905179680814854,0,0,,,32.0,,0.00,0.0400,1.01,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53134,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092598-T-C,17,43092598,rs863224756,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978Cys,p.Tyr978Cys,c.2933A>G,missense_variant,Conflicting interpretations of pathogenicity,216659,,5,1461830,0.000003420370357702332,0,0,,,13.1,0.451,0.0100,0.00,0.157,0.160,0.160,0,33480,0,0,0,44722,0,0,1,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111988,0,0,,,,,1,86254,0,0,2,60394,0,0 +17-43092599-A-G,17,43092599,rs876659545,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr978His,p.Tyr978His,c.2932T>C,missense_variant,Conflicting interpretations of pathogenicity,232085,,1,628722,0.0000015905280871354907,0,0,,,7.17,0.284,0.0100,0.00,0.667,0.520,0.199,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53130,0,0,1,4148,0,0,0,350086,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092600-T-C,17,43092600,rs273899691,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Pro,p.Pro977Pro,c.2931A>G,synonymous_variant,Likely benign,54725,,13,1461822,0.00000889301159785528,0,0,amr,0.00008861999999999996,0.857,,0.00,0.0100,-3.40,,,0,33480,0,0,8,44722,0,0,0,26132,0,0,4,39686,0,0,0,53404,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092600-T-A,17,43092600,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Pro,p.Pro977Pro,c.2931A>T,synonymous_variant,,,,2,1461822,0.0000013681556304392737,0,0,sas,0.00000385,0.683,,0.00,0.00,-3.40,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5768,0,0,0,1111982,0,0,,,,,2,86254,0,0,0,60394,0,0 +17-43092601-G-A,17,43092601,rs141465583,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro977Leu,p.Pro977Leu,c.2930C>T,missense_variant,Conflicting interpretations of pathogenicity,409337,,3,780756,0.000003842429645113198,0,0,nfe,0.0000019100000000000003,8.34,0.540,0.00,0.00,1.10,0.0900,0.434,0,59096,0,0,0,58984,0,0,0,24448,0,0,0,41242,0,0,0,63724,0,0,0,4464,0,0,3,418104,0,0,0,910,0,0,0,74600,0,0,0,35184,0,0 +17-43092602-G-A,17,43092602,rs1064794043,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro977Ser,p.Pro977Ser,c.2929C>T,missense_variant,Conflicting interpretations of pathogenicity,419688,,1,628714,0.0000015905483256297776,0,0,,,8.41,0.448,0.00,0.00,1.10,0.290,0.456,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092607-T-G,17,43092607,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Pro,p.Gln975Pro,c.2924A>C,missense_variant,,,,1,1461822,6.840778152196368e-7,0,0,,,19.5,0.601,0.00,0.00,0.140,0.0200,0.219,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,1,53406,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092607-T-C,17,43092607,rs2154352222,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Arg,p.Gln975Arg,c.2924A>G,missense_variant,Conflicting interpretations of pathogenicity,2113266,,1,1461822,6.840778152196368e-7,0,0,,,19.6,0.571,0.00,0.0100,0.140,0.140,0.457,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092608-G-T,17,43092608,rs80357497,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln975Lys,p.Gln975Lys,c.2923C>A,missense_variant,Conflicting interpretations of pathogenicity,1478400,,1,833092,0.0000012003476206709464,0,0,,,18.7,0.493,0.00,0.00,1.88,0.0400,0.457,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761886,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43092611-A-G,17,43092611,rs763845063,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu974Leu,p.Leu974Leu,c.2920T>C,synonymous_variant,Likely benign,186738,,8,1613972,0.000004956715482052972,0,0,afr,0.00000443,4.63,,0.00,0.00,0.697,,,2,74912,0,0,0,59986,0,0,0,29602,0,0,0,44880,0,0,0,64018,0,0,1,6084,0,0,4,1180014,0,0,0,912,0,0,0,91078,0,0,1,62486,0,0 +17-43092615-TC-T,17,43092615,rs80357573,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly972AspfsTer28,p.Gly972AspfsTer28,c.2915del,frameshift_variant,Pathogenic,54716,lof_flag,1,833098,0.0000012003389757267452,0,0,,,20.5,,0.00,0.0500,0.205,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43092616-C-T,17,43092616,rs587782721,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly972Glu,p.Gly972Glu,c.2915G>A,missense_variant,Conflicting interpretations of pathogenicity,142793,,1,833104,0.0000012003303309070656,0,0,,,7.61,0.411,0.00,0.0100,0.647,0.160,0.759,0,15784,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092617-CAT-C,17,43092617,rs878854940,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971ArgfsTer20,p.His971ArgfsTer20,c.2912_2913del,frameshift_variant,Pathogenic,240783,lof_flag,1,628722,0.0000015905280871354907,0,0,,,22.7,,0.00,0.0100,0.423,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092618-A-G,17,43092618,rs786203804,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971His,p.His971His,c.2913T>C,synonymous_variant,Likely benign,187531,,11,1461834,0.0000075247941968787154,0,0,nfe,0.00000455,5.22,,0.00,0.00,-0.0720,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53408,0,0,0,5768,0,0,10,1111988,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43092620-GTTTA-G,17,43092620,,GTTTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys970MetfsTer29,p.Lys970MetfsTer29,c.2907_2910del,frameshift_variant,,,lof_flag,1,1461830,6.840740715404664e-7,0,0,,,23.0,,0.00,0.0100,0.415,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092620-G-C,17,43092620,rs80357478,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His971Asp,p.His971Asp,c.2911C>G,missense_variant,Conflicting interpretations of pathogenicity,431233,,2,1461830,0.0000013681481430809329,0,0,,,8.85,0.401,0.00,0.0100,0.415,0.170,0.491,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092621-T-C,17,43092621,rs431825394,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys970Lys,p.Lys970Lys,c.2910A>G,synonymous_variant,Likely benign,234141,,4,1461830,0.0000027362962861618657,0,0,nfe,8.4e-7,4.93,,0.00,0.00,1.38,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53410,0,0,0,5768,0,0,4,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092621-T-G,17,43092621,rs431825394,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys970Asn,p.Lys970Asn,c.2910A>C,missense_variant,Conflicting interpretations of pathogenicity,96910,,3,1613940,0.0000018588051600431243,0,0,nfe,6.800000000000001e-7,10.8,0.262,0.00,0.00,1.38,0.200,0.378,0,74898,0,0,0,59974,0,0,0,29600,0,0,0,44882,0,0,0,64028,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91078,0,0,0,62486,0,0 +17-43092622-T-C,17,43092622,rs756559408,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys970Arg,p.Lys970Arg,c.2909A>G,missense_variant,Conflicting interpretations of pathogenicity,647254,,1,152094,0.000006574881323392112,0,0,,,17.4,0.546,0.00,0.0100,1.74,0.0300,0.378,1,41404,0,0,0,15260,0,0,0,3470,0,0,0,5196,0,0,0,10612,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 +17-43092624-A-T,17,43092624,rs2053674031,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn969Lys,p.Asn969Lys,c.2907T>A,missense_variant,Conflicting interpretations of pathogenicity,1015821,,1,833104,0.0000012003303309070656,0,0,,,17.4,0.356,0.00,0.0100,1.07,0.0400,0.589,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092626-T-C,17,43092626,rs587781641,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn969Asp,p.Asn969Asp,c.2905A>G,missense_variant,Conflicting interpretations of pathogenicity,141301,,3,1461832,0.0000020522194068812284,0,0,nfe,7.200000000000001e-7,0.834,0.195,0.00,0.00,-0.0960,0.760,0.0290,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53408,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092629-G-A,17,43092629,rs1182090591,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro968Ser,p.Pro968Ser,c.2902C>T,missense_variant,Conflicting interpretations of pathogenicity,856943,,2,628718,0.000003181076412636508,0,0,amr,0.000007580000000000001,0.168,0.378,0.00,0.00,0.630,0.250,0.00100,0,17694,0,0,2,43740,0,0,0,20980,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43092630-A-G,17,43092630,rs2154353519,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr967Thr,p.Thr967Thr,c.2901T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,2.94,,0.00,0.0200,-0.422,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092631-G-A,17,43092631,rs1249532992,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr967Ile,p.Thr967Ile,c.2900C>T,missense_variant,Conflicting interpretations of pathogenicity,821968,,2,1461826,0.0000013681518867498595,0,0,,,0.817,0.408,0.00,0.0100,0.391,0.540,0.00600,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092633-A-G,17,43092633,rs786202249,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile966Ile,p.Ile966Ile,c.2898T>C,synonymous_variant,Likely benign,185526,,1,628728,0.0000015905129086027663,0,0,,,3.07,,0.00,0.00,0.274,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53140,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092634-A-G,17,43092634,rs879254045,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile966Thr,p.Ile966Thr,c.2897T>C,missense_variant,Conflicting interpretations of pathogenicity,246006,,4,985258,0.000004059850313318948,0,0,afr,0.00001391,7.34,0.415,0.00,0.00,0.992,0.220,0.0600,3,57218,0,0,0,16250,0,0,0,8620,0,0,0,8826,0,0,0,10892,0,0,0,1936,0,0,1,829926,0,0,0,912,0,0,0,21288,0,0,0,29390,0,0 +17-43092636-G-A,17,43092636,rs1555588774,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu965Leu,p.Leu965Leu,c.2895C>T,synonymous_variant,Likely benign,481443,,1,1461824,6.840768792960028e-7,0,0,,,1.43,,0.00,0.00,0.942,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092636-G-C,17,43092636,rs1555588774,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu965Leu,p.Leu965Leu,c.2895C>G,synonymous_variant,,,,2,1461824,0.0000013681537585920056,0,0,nfe,2.999999999999999e-7,1.19,,0.00,0.00,0.942,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53406,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092639-T-C,17,43092639,rs1060504553,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Gly,p.Gly964Gly,c.2892A>G,synonymous_variant,Likely benign,415546,,1,628720,0.0000015905331467107776,0,0,,,1.91,,0.00,0.0200,0.357,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092640-C-T,17,43092640,rs1597866960,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Glu,p.Gly964Glu,c.2891G>A,missense_variant,Conflicting interpretations of pathogenicity,821951,,1,628718,0.000001590538206318254,0,0,,,0.144,0.329,0.00,0.00,0.566,1.00,0.00100,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53138,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43092641-C-T,17,43092641,rs879254027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly964Arg,p.Gly964Arg,c.2890G>A,missense_variant,Conflicting interpretations of pathogenicity,245974,,1,628720,0.0000015905331467107776,0,0,,,17.9,0.468,0.00,0.00,3.49,0.0200,0.296,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092643-G-A,17,43092643,rs730881443,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr963Ile,p.Thr963Ile,c.2888C>T,missense_variant,Conflicting interpretations of pathogenicity,182077,,2,1461830,0.0000013681481430809329,0,0,,,16.4,0.517,0.00,0.00,1.69,0.0100,0.378,0,33480,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53410,0,0,0,5768,0,0,0,1111980,0,0,,,,,1,86254,0,0,0,60394,0,0 +17-43092643-GT-G,17,43092643,rs80357559,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr963LeufsTer37,p.Thr963LeufsTer37,c.2887del,frameshift_variant,Pathogenic,54710,lof_flag,1,1461830,6.840740715404664e-7,0,0,,,22.1,,0.00,0.00,1.69,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53410,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092646-T-C,17,43092646,rs780367532,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu962Gly,p.Glu962Gly,c.2885A>G,missense_variant,Conflicting interpretations of pathogenicity,574001,,2,780910,0.000002561114597072646,0,0,,,23.3,0.523,0.00,0.00,4.57,0.00,0.718,0,59146,0,0,0,58998,0,0,0,24448,0,0,0,41260,0,0,0,63768,0,0,0,4464,0,0,2,418106,0,0,0,912,0,0,0,74618,0,0,0,35190,0,0 +17-43092647-C-T,17,43092647,rs80356955,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu962Lys,p.Glu962Lys,c.2884G>A,missense_variant,Benign,54709,,35,1613898,0.000021686624557437955,0,0,nfe,0.00001724,6.99,0.428,0.00,0.00,0.783,0.170,0.474,2,74886,0,0,0,59974,0,0,0,29604,0,0,0,44882,0,0,0,64000,0,0,0,6084,0,0,29,1179996,0,0,0,912,0,0,4,91072,0,0,0,62488,0,0 +17-43092648-G-A,17,43092648,rs201190540,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn961Asn,p.Asn961Asn,c.2883C>T,synonymous_variant,Likely benign,184402,,24,1613830,0.000014871454862036273,0,0,afr,0.00006240999999999998,0.127,,0.00,0.00,-2.50,,,9,74834,0,0,0,59966,0,0,0,29602,0,0,0,44878,0,0,0,64000,0,0,0,6084,0,0,15,1179986,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 +17-43092649-T-C,17,43092649,rs879254130,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn961Ser,p.Asn961Ser,c.2882A>G,missense_variant,Conflicting interpretations of pathogenicity,246160,,20,985270,0.000020299004333837424,0,0,nfe,0.000014639999999999999,0.144,0.258,0.00,0.00,-1.52,0.340,0.0500,1,57212,0,0,0,16246,0,0,0,8622,0,0,0,8832,0,0,0,10894,0,0,0,1936,0,0,19,829936,0,0,0,910,0,0,0,21290,0,0,0,29392,0,0 +17-43092653-C-T,17,43092653,rs1555588796,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly960Ser,p.Gly960Ser,c.2878G>A,missense_variant,Conflicting interpretations of pathogenicity,481478,,1,1461832,6.840731356270762e-7,0,0,,,8.82,0.406,0.00,0.00,1.56,0.250,0.531,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,0,1111980,0,0,,,,,1,86252,0,0,0,60394,0,0 +17-43092653-C-A,17,43092653,rs1555588796,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly960Cys,p.Gly960Cys,c.2878G>T,missense_variant,,,,1,1461832,6.840731356270762e-7,0,0,,,19.8,0.482,0.00,0.00,1.56,0.00,0.906,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43092654-T-C,17,43092654,rs587782743,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Arg,p.Arg959Arg,c.2877A>G,synonymous_variant,Likely benign,485386,,2,1461834,0.0000013681443994324936,0,0,nfe,2.999999999999999e-7,5.95,,0.00,0.00,1.04,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53414,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092655-C-T,17,43092655,rs779153035,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Lys,p.Arg959Lys,c.2876G>A,missense_variant,,,,3,1461832,0.0000020522194068812284,0,0,,,8.64,0.534,0.00,0.00,2.44,0.120,0.759,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53412,0,0,0,5768,0,0,1,1111980,0,0,,,,,1,86254,0,0,1,60394,0,0 +17-43092656-T-C,17,43092656,rs1401324575,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg959Gly,p.Arg959Gly,c.2875A>G,missense_variant,Conflicting interpretations of pathogenicity,821939,,1,628724,0.0000015905230275923935,0,0,,,9.48,0.435,0.00,0.00,0.321,0.170,0.631,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53136,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092657-G-A,17,43092657,rs1029207537,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe958Phe,p.Phe958Phe,c.2874C>T,synonymous_variant,Likely benign,380259,,6,1613904,0.0000037176932456949113,0,0,afr,0.00003472999999999999,1.15,,0.00,0.00,0.0440,,,6,74878,0,0,0,59974,0,0,0,29600,0,0,0,44884,0,0,0,64026,0,0,0,6084,0,0,0,1179992,0,0,0,912,0,0,0,91070,0,0,0,62484,0,0 +17-43092660-C-T,17,43092660,rs1167322579,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln957Gln,p.Gln957Gln,c.2871G>A,synonymous_variant,Likely benign,1797057,,1,152096,0.000006574794866400168,0,0,,,0.571,,0.00,0.00,0.157,,,0,41420,0,0,0,15242,0,0,0,3472,0,0,1,5186,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2086,0,0 +17-43092664-G-C,17,43092664,rs1060502336,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser956Cys,p.Ser956Cys,c.2867C>G,missense_variant,Conflicting interpretations of pathogenicity,409320,,1,152150,0.000006572461386789352,0,0,,,12.3,0.466,0.00,0.00,1.18,0.00,0.908,0,41422,0,0,0,15254,0,0,0,3470,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 +17-43092665-A-G,17,43092665,rs1468065357,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser956Pro,p.Ser956Pro,c.2866T>C,missense_variant,Conflicting interpretations of pathogenicity,2130530,,1,152146,0.0000065726341803267915,0,0,,,10.9,0.490,0.00,0.00,0.704,0.0900,0.737,0,41426,0,0,0,15252,0,0,0,3472,0,0,1,5198,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43092666-T-C,17,43092666,rs748285767,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser955Ser,p.Ser955Ser,c.2865A>G,synonymous_variant,Likely benign,427320,,1,833110,0.0000012003216862119048,0,0,,,5.11,,0.00,0.00,-0.0990,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092667-G-T,17,43092667,rs80357295,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser955Ter,p.Ser955Ter,c.2864C>A,stop_gained,Pathogenic,54701,lof_flag,2,833110,0.0000024006433724238097,0,0,,,34.0,,0.00,0.00,4.03,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092669-T-C,17,43092669,rs559190752,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2862A>G,synonymous_variant,Likely benign,184697,,28,1614126,0.00001734684900683094,0,0,afr,0.00009200999999999998,0.477,,0.00,0.00,-1.10,,,12,75032,0,0,2,60010,0,0,0,29604,0,0,0,44870,0,0,0,64036,0,0,0,6062,0,0,11,1180012,0,0,0,912,0,0,2,91080,0,0,1,62508,0,0 +17-43092669-T-G,17,43092669,rs559190752,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2862A>C,synonymous_variant,Likely benign,185356,,3,1461832,0.0000020522194068812284,0,0,,,0.408,,0.00,0.00,-1.10,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,3,53410,0,0,0,5768,0,0,0,1111982,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092670-AG-A,17,43092670,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu954TyrfsTer46,p.Leu954TyrfsTer46,c.2860del,frameshift_variant,,,lof_flag,1,628724,0.0000015905230275923935,0,0,,,22.3,,0.00,0.00,0.0390,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53134,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092671-G-A,17,43092671,rs730881452,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu954Leu,p.Leu954Leu,c.2860C>T,synonymous_variant,Likely benign,182093,,22,1613926,0.00001363135608447971,0,0,nfe,0.00001107,2.46,,0.00,0.00,2.75,,,1,74882,0,0,0,59980,0,0,0,29604,0,0,0,44880,0,0,0,64010,0,0,0,6084,0,0,20,1180010,0,0,0,912,0,0,0,91082,0,0,1,62482,0,0 +17-43092677-A-T,17,43092677,rs1295122328,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe952Ile,p.Phe952Ile,c.2854T>A,missense_variant,,,,1,628722,0.0000015905280871354907,0,0,,,7.97,0.286,0.00,0.00,1.50,0.0900,0.0120,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53130,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092680-T-G,17,43092680,rs1347533994,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg951Arg,p.Arg951Arg,c.2851A>C,synonymous_variant,Likely benign,491054,,1,628722,0.0000015905280871354907,0,0,,,2.58,,0.00,0.0100,-1.27,,,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092680-T-C,17,43092680,rs1347533994,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg951Gly,p.Arg951Gly,c.2851A>G,missense_variant,Conflicting interpretations of pathogenicity,649341,,3,152208,0.000019709870703248187,0,0,afr,0.00001919,5.91,0.412,0.00,0.00,-1.27,,,3,41460,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10626,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4838,0,0,0,2090,0,0 +17-43092682-G-A,17,43092682,rs1555588847,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser950Phe,p.Ser950Phe,c.2849C>T,missense_variant,Conflicting interpretations of pathogenicity,462595,,1,628720,0.0000015905331467107776,0,0,,,22.3,0.461,0.00,0.00,4.08,0.00,0.616,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53132,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092684-G-A,17,43092684,rs1555588850,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly949Gly,p.Gly949Gly,c.2847C>T,synonymous_variant,Likely benign,491053,,1,833106,0.0000012003274493281767,0,0,,,0.589,,0.00,0.00,0.150,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092686-C-T,17,43092686,rs1324818767,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly949Ser,p.Gly949Ser,c.2845G>A,missense_variant,Conflicting interpretations of pathogenicity,579135,,1,628726,0.0000015905179680814854,0,0,,,6.85,0.497,0.00,0.00,1.12,0.230,0.155,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53136,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092690-T-A,17,43092690,rs864622618,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys947Asn,p.Lys947Asn,c.2841A>T,missense_variant,Conflicting interpretations of pathogenicity,220648,,3,1461836,0.0000020522137914239355,0,0,nfe,7.200000000000001e-7,19.3,0.400,0.00,0.00,1.06,0.0500,0.694,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092691-T-C,17,43092691,rs778118145,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys947Arg,p.Lys947Arg,c.2840A>G,missense_variant,Conflicting interpretations of pathogenicity,481455,,1,628722,0.0000015905280871354907,0,0,,,8.44,0.385,0.00,0.00,0.740,0.120,0.142,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36060,0,0,0,53130,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092693-GAT-G,17,43092693,rs397509016,GAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile946GlnfsTer5,p.Ile946GlnfsTer5,c.2836_2837del,frameshift_variant,Pathogenic,54696,lof_flag,3,628724,0.00000477156908277718,0,0,nfe,0.00000228,20.5,,0.00,0.00,-1.06,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,3,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092694-ATAC-A,17,43092694,rs80358332,ATAC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser945del,p.Ser945del,c.2834_2836del,inframe_deletion,Uncertain significance,54693,,2,780858,0.0000025612851504370835,0,0,,,3.63,,0.00,0.00,-0.718,,,1,59118,0,0,0,58992,0,0,0,24452,0,0,0,41262,0,0,0,63744,0,0,0,4464,0,0,1,418104,0,0,0,912,0,0,0,74626,0,0,0,35184,0,0 +17-43092695-T-A,17,43092695,rs876660901,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile946Phe,p.Ile946Phe,c.2836A>T,missense_variant,Conflicting interpretations of pathogenicity,234176,,1,628716,0.0000015905432659579206,0,0,,,6.18,0.405,0.00,0.00,-4.18,0.0500,0.209,0,17690,0,0,1,43740,0,0,0,20980,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092697-C-G,17,43092697,rs746727823,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser945Thr,p.Ser945Thr,c.2834G>C,missense_variant,Uncertain significance,2445711,,3,628724,0.00000477156908277718,0,0,nfe,0.00000228,10.2,0.391,0.00,0.00,0.870,0.0500,0.525,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53134,0,0,0,4148,0,0,3,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092700-C-T,17,43092700,rs770769275,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys944Tyr,p.Cys944Tyr,c.2831G>A,missense_variant,Conflicting interpretations of pathogenicity,230809,,3,628726,0.000004771553904244456,0,0,sas,0.00000476,0.289,0.363,0.00,0.00,-0.677,0.360,0.00700,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53134,0,0,0,4148,0,0,1,350082,0,0,,,,,2,69794,0,0,0,33096,0,0 +17-43092701-A-T,17,43092701,rs1064795603,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys944Ser,p.Cys944Ser,c.2830T>A,missense_variant,Conflicting interpretations of pathogenicity,422172,,2,628732,0.0000031810055794837864,0,0,nfe,9.5e-7,0.875,0.395,0.00,0.00,-0.426,0.180,0.0440,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53138,0,0,0,4148,0,0,2,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092706-G-C,17,43092706,rs2154357624,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala942Gly,p.Ala942Gly,c.2825C>G,missense_variant,,,,1,628722,0.0000015905280871354907,0,0,,,15.5,0.504,0.00,0.00,1.26,0.0200,0.248,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092708-A-C,17,43092708,rs1465630651,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Lys,p.Asn941Lys,c.2823T>G,missense_variant,Conflicting interpretations of pathogenicity,661501,,1,628732,0.0000015905027897418932,0,0,,,9.86,0.256,0.00,0.00,0.530,0.360,0.140,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092708-A-G,17,43092708,rs1465630651,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Asn,p.Asn941Asn,c.2823T>C,synonymous_variant,Likely benign,792532,,1,628732,0.0000015905027897418932,0,0,,,4.12,,0.00,0.00,0.530,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092709-T-C,17,43092709,rs776512377,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn941Ser,p.Asn941Ser,c.2822A>G,missense_variant,Conflicting interpretations of pathogenicity,485402,,1,1461838,6.84070327902271e-7,0,0,,,0.349,0.234,0.00,0.00,-0.792,0.450,0.0200,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53410,0,0,0,5768,0,0,0,1111988,0,0,,,,,1,86254,0,0,0,60394,0,0 +17-43092709-T-G,17,43092709,rs776512377,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn941Thr,p.Asn941Thr,c.2822A>C,missense_variant,Conflicting interpretations of pathogenicity,952178,,2,1614046,0.0000012391220572400042,0,0,,,1.03,0.319,0.00,0.00,-0.792,0.430,0.0200,0,74932,0,0,0,59984,0,0,0,29600,0,0,0,44898,0,0,0,64040,0,0,0,6084,0,0,2,1180020,0,0,0,912,0,0,0,91090,0,0,0,62486,0,0 +17-43092711-A-G,17,43092711,rs1414992991,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp940Asp,p.Asp940Asp,c.2820T>C,synonymous_variant,Likely benign,1677194,,1,152212,0.000006569784248285286,0,0,,,0.922,,0.00,0.00,-1.05,,,0,41458,0,0,1,15272,0,0,0,3468,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43092712-T-C,17,43092712,rs745954644,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp940Gly,p.Asp940Gly,c.2819A>G,missense_variant,Conflicting interpretations of pathogenicity,928128,,4,985322,0.00000405958661229527,0,0,nfe,9.6e-7,14.8,0.457,0.00,0.0100,0.450,0.0800,0.380,1,57256,0,0,0,16246,0,0,0,8624,0,0,0,8834,0,0,0,10900,0,0,0,1936,0,0,3,829934,0,0,0,912,0,0,0,21290,0,0,0,29390,0,0 +17-43092716-C-T,17,43092716,rs1555588896,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val939Ile,p.Val939Ile,c.2815G>A,missense_variant,Conflicting interpretations of pathogenicity,462594,,1,833110,0.0000012003216862119048,0,0,,,11.0,0.232,0.00,0.00,0.417,0.110,0.425,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092717-T-C,17,43092717,rs80356851,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro938Pro,p.Pro938Pro,c.2814A>G,synonymous_variant,Benign,54688,,543,1614178,0.0003363941275373596,1,0,afr,0.0056786000000000015,5.77,,0.00,0.00,-1.40,,,461,75062,1,0,34,60008,0,0,0,29604,0,0,0,44882,0,0,0,64034,0,0,1,6062,0,0,6,1180020,0,0,0,910,0,0,1,91088,0,0,40,62508,0,0 +17-43092717-T-G,17,43092717,rs80356851,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro938Pro,p.Pro938Pro,c.2814A>C,synonymous_variant,Likely benign,496359,,1,1461838,6.84070327902271e-7,0,0,,,5.42,,0.00,0.00,-1.40,,,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53408,0,0,0,5768,0,0,0,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092718-G-A,17,43092718,rs1064793999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro938Leu,p.Pro938Leu,c.2813C>T,missense_variant,Conflicting interpretations of pathogenicity,419626,,1,628728,0.0000015905129086027663,0,0,,,9.49,0.303,0.00,0.00,0.256,0.130,0.348,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36062,0,0,0,53134,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092720-C-T,17,43092720,rs876659271,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys937Lys,p.Lys937Lys,c.2811G>A,synonymous_variant,Likely benign,231630,,4,780908,0.000005122242312794849,0,0,nfe,0.0000019100000000000003,3.69,,0.00,0.00,0.0860,,,0,59144,0,0,0,59014,0,0,0,24452,0,0,0,41258,0,0,0,63750,0,0,0,4464,0,0,3,418098,0,0,0,912,0,0,1,74626,0,0,0,35190,0,0 +17-43092721-T-G,17,43092721,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys937Thr,p.Lys937Thr,c.2810A>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.9,0.454,0.00,0.00,0.174,0.0300,0.386,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092722-T-A,17,43092722,rs1555588915,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys937Ter,p.Lys937Ter,c.2809A>T,stop_gained,Pathogenic,438921,lof_flag,1,628728,0.0000015905129086027663,0,0,,,33.0,,0.00,0.00,-0.199,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43092723-A-C,17,43092723,rs730881485,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp936Glu,p.Asp936Glu,c.2808T>G,missense_variant,Conflicting interpretations of pathogenicity,182149,,11,1614032,0.000006815230429136473,0,0,nfe,0.000005,4.33,0.408,0.00,0.00,-1.19,0.530,0.0200,0,74920,0,0,0,59994,0,0,0,29600,0,0,0,44894,0,0,0,64030,0,0,0,6084,0,0,11,1180022,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43092723-A-G,17,43092723,rs730881485,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp936Asp,p.Asp936Asp,c.2808T>C,synonymous_variant,,,,1,152198,0.000006570388572780194,0,0,,,3.93,,0.00,0.00,-1.19,,,0,41442,0,0,0,15270,0,0,0,3468,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,1,4834,0,0,0,2094,0,0 +17-43092724-T-G,17,43092724,rs1377019132,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp936Ala,p.Asp936Ala,c.2807A>C,missense_variant,,,,2,628728,0.0000031810258172055326,0,0,sas,0.00000476,19.4,0.439,0.00,0.00,0.416,0.0400,0.0600,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53136,0,0,0,4148,0,0,0,350080,0,0,,,,,2,69794,0,0,0,33096,0,0 +17-43092725-C-CT,17,43092725,rs397509012,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp936ArgfsTer2,p.Asp936ArgfsTer2,c.2805dup,frameshift_variant,Pathogenic,236269,lof_flag,1,833108,0.0000012003245677631232,0,0,,,24.4,,0.00,0.00,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092728-T-G,17,43092728,rs1302678544,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys935Gln,p.Lys935Gln,c.2803A>C,missense_variant,Uncertain significance,2565348,,4,1614042,0.00000247825025618912,0,0,afr,0.00001063,13.4,0.555,0.00,0.00,-0.440,0.0800,0.199,3,74934,0,0,0,59994,0,0,0,29604,0,0,0,44896,0,0,0,64032,0,0,0,6084,0,0,0,1180010,0,0,0,912,0,0,0,91088,0,0,1,62488,0,0 +17-43092731-GACCA-G,17,43092731,rs80357840,GACCA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933ArgfsTer66,p.Gly933ArgfsTer66,c.2796_2799del,frameshift_variant,Pathogenic,54681,lof_flag,1,628698,0.0000015905888041635253,0,0,,,26.0,,0.00,0.00,3.47,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36062,0,0,0,53122,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69784,0,0,0,33094,0,0 +17-43092731-G-A,17,43092731,rs80357223,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln934Ter,p.Gln934Ter,c.2800C>T,stop_gained,Pathogenic,54683,lof_flag,2,628698,0.0000031811776083270507,0,0,eas,0.00000919,35.0,,0.00,0.00,3.47,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,2,36062,0,0,0,53122,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69784,0,0,0,33094,0,0 +17-43092733-C-G,17,43092733,rs80356941,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933Ala,p.Gly933Ala,c.2798G>C,missense_variant,Benign,233288,,2,1461816,0.0000013681612460118099,0,0,nfe,2.999999999999999e-7,6.13,0.316,0.00,0.00,0.558,0.220,0.0150,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,2,1111972,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092733-C-T,17,43092733,rs80356941,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly933Asp,p.Gly933Asp,c.2798G>A,missense_variant,Conflicting interpretations of pathogenicity,37490,,24,1461816,0.00001641793495214172,0,0,nfe,0.000014599999999999999,7.48,0.289,0.00,0.00,0.558,0.180,0.00300,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53404,0,0,0,5768,0,0,24,1111972,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092737-C-T,17,43092737,rs762589415,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val932Ile,p.Val932Ile,c.2794G>A,missense_variant,,,,1,628714,0.0000015905483256297776,0,0,,,4.20,0.424,0.00,0.00,0.226,0.250,0.0710,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53126,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092740-C-T,17,43092740,rs763639161,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val931Met,p.Val931Met,c.2791G>A,missense_variant,Conflicting interpretations of pathogenicity,630796,,1,1461818,6.84079687074588e-7,0,0,,,5.82,0.335,0.00,0.00,0.333,0.0800,0.292,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53396,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092740-C-A,17,43092740,rs763639161,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val931Leu,p.Val931Leu,c.2791G>T,missense_variant,Conflicting interpretations of pathogenicity,219899,,7,1461818,0.000004788557809522115,0,0,nfe,0.0000026200000000000003,3.00,0.467,0.00,0.00,0.333,0.230,0.120,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53396,0,0,0,5768,0,0,7,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43092742-G-A,17,43092742,rs80357256,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro930Leu,p.Pro930Leu,c.2789C>T,missense_variant,Conflicting interpretations of pathogenicity,54680,,4,1461810,0.0000027363337232608887,0,0,nfe,7.200000000000001e-7,17.1,0.402,0.00,0.00,2.84,0.0400,0.0750,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39692,0,0,0,53392,0,0,0,5768,0,0,3,1111978,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092747-G-C,17,43092747,rs2154359643,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly928Gly,p.Gly928Gly,c.2784C>G,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.88,,0.00,0.00,0.275,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092748-C-T,17,43092748,rs202004680,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly928Asp,p.Gly928Asp,c.2783G>A,missense_variant,Conflicting interpretations of pathogenicity,41813,,9,1613966,0.000005576325647504346,0,0,nfe,0.0000035900000000000004,6.91,0.392,0.00,0.00,0.0340,0.150,0.327,0,74916,0,0,0,59988,0,0,0,29602,0,0,0,44886,0,0,0,64006,0,0,0,6084,0,0,9,1180004,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 +17-43092749-C-T,17,43092749,rs80356995,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly928Ser,p.Gly928Ser,c.2782G>A,missense_variant,Conflicting interpretations of pathogenicity,54679,,2,985264,0.000002029912794946329,0,0,,,5.41,0.425,0.00,0.00,0.972,0.120,0.812,0,57236,0,0,0,16240,0,0,0,8622,0,0,0,8826,0,0,0,10892,0,0,0,1936,0,0,1,829924,0,0,0,912,0,0,0,21284,0,0,1,29392,0,0 +17-43092753-AGT-A,17,43092753,rs886040070,AGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr926CysfsTer11,p.Thr926CysfsTer11,c.2776_2777del,frameshift_variant,Pathogenic,266301,lof_flag,1,833108,0.0000012003245677631232,0,0,,,16.9,,0.00,0.00,-0.434,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092755-T-C,17,43092755,rs2154360041,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr926Ala,p.Thr926Ala,c.2776A>G,missense_variant,Uncertain significance,2663975,,2,832786,0.0000024015773560074255,0,0,nfe,4.4e-7,0.975,0.459,0.00,0.00,-1.20,0.190,0.302,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,2,761606,0,0,,,,,0,16454,0,0,0,27290,0,0 +17-43092756-G-A,17,43092756,rs786201104,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Ile,p.Ile925Ile,c.2775C>T,synonymous_variant,Likely benign,183839,,3,1613908,0.000001858842015777851,0,0,,,0.672,,0.00,0.00,-0.0930,,,2,74904,0,0,0,59978,0,0,0,29604,0,0,0,44888,0,0,0,63976,0,0,0,6084,0,0,1,1179994,0,0,0,912,0,0,0,91080,0,0,0,62488,0,0 +17-43092758-T-C,17,43092758,rs4986847,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Val,p.Ile925Val,c.2773A>G,missense_variant,Conflicting interpretations of pathogenicity,185111,,36,1613994,0.000022304915631656624,0,0,nfe,0.00002154,0.590,0.186,0.00,0.00,-0.168,0.140,0.0290,1,74930,0,0,0,59976,0,0,0,29602,0,0,0,44894,0,0,0,64012,0,0,0,6084,0,0,35,1180008,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43092758-T-G,17,43092758,rs4986847,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile925Leu,p.Ile925Leu,c.2773A>C,missense_variant,Benign,37489,,76,1614112,0.00004708471283281458,0,0,afr,0.0006604900000000001,7.76,0.340,0.00,0.00,-0.168,0.0200,0.0380,62,75052,0,0,9,59996,0,0,0,29602,0,0,0,44882,0,0,0,64012,0,0,0,6062,0,0,0,1180000,0,0,0,912,0,0,1,91084,0,0,4,62510,0,0 +17-43092760-TTAAC-T,17,43092760,rs80357661,TTAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val923IlefsTer76,p.Val923IlefsTer76,c.2767_2770del,frameshift_variant,Pathogenic,54678,lof_flag,1,152164,0.000006571856680949502,0,0,,,17.1,,0.00,0.00,-1.78,,,0,41454,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10618,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43092761-T-C,17,43092761,rs760877199,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn924Asp,p.Asn924Asp,c.2770A>G,missense_variant,,,,1,628694,0.0000015905989241188878,0,0,,,0.185,0.316,0.00,0.00,0.0140,0.650,0.0120,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53110,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092764-CT-C,17,43092764,rs80357812,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val923LeufsTer77,p.Val923LeufsTer77,c.2766del,frameshift_variant,Pathogenic,54677,lof_flag,1,628692,0.0000015906039841448595,0,0,,,21.6,,0.00,0.00,-0.425,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43092764-C-T,17,43092764,rs1324340897,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val923Ile,p.Val923Ile,c.2767G>A,missense_variant,Conflicting interpretations of pathogenicity,1426644,,2,628692,0.000003181207968289719,0,0,sas,0.00000476,0.418,0.434,0.00,0.00,-0.425,0.200,0.158,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,2,69794,0,0,0,33096,0,0 +17-43092765-T-C,17,43092765,rs2154360535,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr922Thr,p.Thr922Thr,c.2766A>G,synonymous_variant,,,,1,628702,0.0000015905786843369356,0,0,,,4.07,,0.00,0.0100,1.32,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53114,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43092766-G-C,17,43092766,rs80357460,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr922Arg,p.Thr922Arg,c.2765C>G,missense_variant,Conflicting interpretations of pathogenicity,54676,,4,1613908,0.000002478456021037135,0,0,nfe,7.899999999999998e-7,9.23,0.399,0.00,0.00,1.65,0.0100,0.449,0,74886,0,0,0,59994,0,0,0,29602,0,0,0,44890,0,0,0,63984,0,0,0,6084,0,0,4,1179992,0,0,0,912,0,0,0,91078,0,0,0,62486,0,0 +17-43092768-CT-C,17,43092768,rs80357703,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln921ArgfsTer79,p.Gln921ArgfsTer79,c.2762del,frameshift_variant,Pathogenic,54674,lof_flag,1,628682,0.0000015906292847576358,0,0,,,22.8,,0.00,0.0100,0.995,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53100,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43092772-A-G,17,43092772,rs80357008,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val920Ala,p.Val920Ala,c.2759T>C,missense_variant,Conflicting interpretations of pathogenicity,54672,,1,628684,0.0000015906242245706906,0,0,,,5.65,0.451,0.00,0.00,-0.573,0.0800,0.170,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350074,0,0,,,,,1,69792,0,0,0,33094,0,0 +17-43092773-C-A,17,43092773,rs80357361,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val920Leu,p.Val920Leu,c.2758G>T,missense_variant,Conflicting interpretations of pathogenicity,567742,,1,152152,0.000006572374993427625,0,0,,,0.574,0.404,0.00,0.00,0.00700,,,1,41440,0,0,0,15260,0,0,0,3472,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43092773-C-T,17,43092773,rs80357361,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val920Ile,p.Val920Ile,c.2758G>A,missense_variant,Benign,37488,,12,1613942,0.00000743521142643292,0,0,amr,0.00003234,0.320,0.394,0.00,0.00,0.00700,0.160,0.340,0,74918,0,0,5,59984,0,0,4,29602,0,0,0,44888,0,0,0,63992,0,0,0,6084,0,0,3,1179998,0,0,0,912,0,0,0,91082,0,0,0,62482,0,0 +17-43092774-A-G,17,43092774,rs755516286,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro919Pro,p.Pro919Pro,c.2757T>C,synonymous_variant,Likely benign,233831,,5,1613958,0.0000030979740488909873,0,0,eas,0.000029770000000000005,2.58,,0.00,0.00,-2.87,,,0,74916,0,0,0,59986,0,0,0,29604,0,0,4,44892,0,0,0,64004,0,0,0,6084,0,0,0,1179996,0,0,0,912,0,0,0,91080,0,0,1,62484,0,0 +17-43092776-G-T,17,43092776,rs2154361097,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro919Thr,p.Pro919Thr,c.2755C>A,missense_variant,,,,1,628672,0.0000015906545861753029,0,0,,,0.608,0.359,0.00,0.00,-0.00400,0.190,0.145,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36064,0,0,0,53098,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33090,0,0 +17-43092777-C-T,17,43092777,rs398122668,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Lys,p.Lys918Lys,c.2754G>A,synonymous_variant,Likely benign,2450688,,1,1461786,6.84094662282988e-7,0,0,,,0.388,,0.00,0.00,-0.261,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39694,0,0,0,53380,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43092777-C-G,17,43092777,rs398122668,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Asn,p.Lys918Asn,c.2754G>C,missense_variant,,,,1,1461786,6.84094662282988e-7,0,0,,,6.36,0.313,0.00,0.00,-0.261,0.0400,0.100,0,33476,0,0,0,44722,0,0,0,26132,0,0,1,39694,0,0,0,53380,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43092779-T-G,17,43092779,rs397509010,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys918Gln,p.Lys918Gln,c.2752A>C,missense_variant,Conflicting interpretations of pathogenicity,54671,,7,833110,0.000008402251803483333,0,0,nfe,0.00000382,2.14,0.432,0.00,0.00,-0.752,0.100,0.213,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092781-A-C,17,43092781,rs587781492,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile917Ser,p.Ile917Ser,c.2750T>G,missense_variant,Conflicting interpretations of pathogenicity,216658,,1,1461756,6.841087021363347e-7,0,0,,,6.56,0.483,0.00,0.00,-0.560,0.130,0.236,0,33472,0,0,0,44720,0,0,0,26132,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86248,0,0,0,60388,0,0 +17-43092781-A-G,17,43092781,rs587781492,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile917Thr,p.Ile917Thr,c.2750T>C,missense_variant,Conflicting interpretations of pathogenicity,141097,,2,1613934,0.0000012392080469213735,0,0,,,4.46,0.546,0.00,0.00,-0.560,0.100,0.259,0,74920,0,0,0,59982,0,0,0,29602,0,0,2,44898,0,0,0,63988,0,0,0,6084,0,0,0,1179988,0,0,0,912,0,0,0,91078,0,0,0,62482,0,0 +17-43092784-T-A,17,43092784,rs864622588,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn916Ile,p.Asn916Ile,c.2747A>T,missense_variant,Conflicting interpretations of pathogenicity,220573,,5,1613926,0.0000030980354737453886,0,0,nfe,0.0000012399999999999998,18.1,0.310,0.00,0.00,1.72,0.0100,0.530,0,74928,0,0,0,59980,0,0,0,29604,0,0,0,44894,0,0,0,63992,0,0,0,6084,0,0,5,1179974,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 +17-43092785-T-C,17,43092785,rs398122666,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn916Asp,p.Asn916Asp,c.2746A>G,missense_variant,Conflicting interpretations of pathogenicity,482936,,1,628634,0.0000015907507389037182,0,0,,,7.59,0.211,0.00,0.00,-0.132,0.0400,0.0170,0,17684,0,0,0,43736,0,0,0,20978,0,0,0,36064,0,0,0,53104,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69782,0,0,0,33090,0,0 +17-43092789-C-T,17,43092789,rs961042365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu914Glu,p.Glu914Glu,c.2742G>A,synonymous_variant,Likely benign,389454,,3,780762,0.000003842400116808964,0,0,amr,0.00000562,1.04,,0.00,0.00,0.349,,,0,59112,0,0,2,58996,0,0,0,24446,0,0,0,41264,0,0,0,63712,0,0,0,4464,0,0,0,418062,0,0,0,912,0,0,1,74618,0,0,0,35176,0,0 +17-43092791-C-G,17,43092791,rs80357419,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu914Gln,p.Glu914Gln,c.2740G>C,missense_variant,Conflicting interpretations of pathogenicity,1409056,,2,1461680,0.0000013682885446883039,0,0,nfe,2.999999999999999e-7,10.9,0.557,0.00,0.00,1.26,0.0200,0.955,0,33464,0,0,0,44710,0,0,0,26130,0,0,0,39694,0,0,0,53376,0,0,0,5768,0,0,2,1111924,0,0,,,,,0,86230,0,0,0,60384,0,0 +17-43092793-T-C,17,43092793,rs199954851,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn913Ser,p.Asn913Ser,c.2738A>G,missense_variant,Conflicting interpretations of pathogenicity,232370,,1,152314,0.000006565384665887574,0,0,,,8.24,0.192,0.120,0.100,1.83,0.240,0.00100,0,41578,0,0,1,15288,0,0,0,3472,0,0,0,5190,0,0,0,10608,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 +17-43092796-T-C,17,43092796,rs397507204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys912Arg,p.Lys912Arg,c.2735A>G,missense_variant,Likely benign,37487,,11,628578,0.000017499817047367232,0,0,amr,0.00014039999999999997,5.44,0.408,0.00,0.00,0.387,0.170,0.213,0,17678,0,0,11,43722,0,0,0,20976,0,0,0,36064,0,0,0,53102,0,0,0,4148,0,0,0,350022,0,0,,,,,0,69778,0,0,0,33088,0,0 +17-43092797-T-G,17,43092797,rs1555589048,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys912Gln,p.Lys912Gln,c.2734A>C,missense_variant,Conflicting interpretations of pathogenicity,531231,,5,833110,0.000006001608431059524,0,0,nfe,0.0000019200000000000003,1.73,0.394,0.00,0.00,-0.0400,0.200,0.158,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092798-T-C,17,43092798,rs1800740,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly911Gly,p.Gly911Gly,c.2733A>G,synonymous_variant,Likely benign,54664,,972,1613990,0.0006022342145862119,3,0,amr,0.0018638799999999998,5.58,,0.00,0.00,-0.190,,,22,75034,0,0,130,59988,0,0,279,29602,3,0,0,44882,0,0,10,64002,0,0,14,6060,0,0,368,1179940,0,0,0,912,0,0,46,91068,0,0,103,62502,0,0 +17-43092800-CTTGATTTTCTTCCTT-C,17,43092800,rs755789142,CTTGATTTTCTTCCTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys906_Gln910del,p.Lys906_Gln910del,c.2716_2730del,inframe_deletion,Uncertain significance,479264,,4,1613902,0.0000024784652351877625,0,0,nfe,7.899999999999998e-7,13.9,,0.00,0.00,3.16,,,0,75012,0,0,0,59970,0,0,0,29598,0,0,0,44880,0,0,0,63978,0,0,0,6062,0,0,4,1179928,0,0,0,912,0,0,0,91064,0,0,0,62498,0,0 +17-43092800-CTTGA-C,17,43092800,rs80357605,CTTGA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn909LysfsTer90,p.Asn909LysfsTer90,c.2727_2730del,frameshift_variant,Pathogenic,54661,lof_flag,2,1461664,0.0000013683035225605884,0,0,,,22.4,,0.00,0.00,3.16,,,0,33460,0,0,0,44702,0,0,0,26126,0,0,0,39694,0,0,0,53374,0,0,0,5768,0,0,1,1111916,0,0,,,,,1,86240,0,0,0,60384,0,0 +17-43092801-T-C,17,43092801,rs2154362407,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln910Gln,p.Gln910Gln,c.2730A>G,synonymous_variant,,,,2,833106,0.0000024006548986563534,0,0,nfe,4.4e-7,2.37,,0.00,0.00,0.344,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092805-T-A,17,43092805,rs80357127,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn909Ile,p.Asn909Ile,c.2726A>T,missense_variant,Conflicting interpretations of pathogenicity,37486,,31,1613856,0.00001920865306446176,0,0,eas,0.00042383000000000004,9.20,0.482,0.00,0.00,-0.307,0.0100,0.781,0,74922,0,0,0,59968,0,0,0,29600,0,0,27,44892,0,0,0,63992,0,0,0,6084,0,0,0,1179938,0,0,0,912,0,0,0,91070,0,0,4,62478,0,0 +17-43092807-T-G,17,43092807,rs1350643283,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Asp,p.Glu908Asp,c.2724A>C,missense_variant,Conflicting interpretations of pathogenicity,481453,,1,628562,0.0000015909329549034144,0,0,,,16.0,0.463,0.00,0.00,0.0670,0.100,0.327,0,17674,0,0,0,43722,0,0,0,20976,0,0,0,36064,0,0,0,53100,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69778,0,0,1,33088,0,0 +17-43092809-C-T,17,43092809,rs80356978,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Lys,p.Glu908Lys,c.2722G>A,missense_variant,,,,7,1461652,0.000004789101646629977,0,0,nfe,0.0000026200000000000003,14.9,0.517,0.00,0.00,0.969,0.100,0.718,0,33460,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53372,0,0,0,5768,0,0,7,1111912,0,0,,,,,0,86238,0,0,0,60386,0,0 +17-43092809-C-A,17,43092809,rs80356978,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu908Ter,p.Glu908Ter,c.2722G>T,stop_gained,Pathogenic,54657,lof_flag,5,1461652,0.000003420786890449984,0,0,nfe,0.0000013199999999999999,34.0,,0.00,0.00,0.969,,,0,33460,0,0,0,44698,0,0,0,26126,0,0,0,39692,0,0,0,53372,0,0,0,5768,0,0,5,1111912,0,0,,,,,0,86238,0,0,0,60386,0,0 +17-43092814-T-C,17,43092814,rs2154363066,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys906Arg,p.Lys906Arg,c.2717A>G,missense_variant,,,,1,628578,0.0000015908924588515665,0,0,,,6.31,0.608,0.00,0.00,0.346,0.240,0.893,0,17684,0,0,0,43730,0,0,0,20974,0,0,0,36064,0,0,0,53078,0,0,0,4148,0,0,1,350026,0,0,,,,,0,69784,0,0,0,33090,0,0 +17-43092817-T-C,17,43092817,rs397507203,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln905Arg,p.Gln905Arg,c.2714A>G,missense_variant,Conflicting interpretations of pathogenicity,37485,,4,1461730,0.0000027364834819015824,0,0,nfe,8.4e-7,17.7,0.512,0.00,0.00,0.0650,0.0400,0.340,0,33474,0,0,0,44714,0,0,0,26128,0,0,0,39694,0,0,0,53378,0,0,0,5768,0,0,4,1111942,0,0,,,,,0,86246,0,0,0,60386,0,0 +17-43092817-T-G,17,43092817,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln905Pro,p.Gln905Pro,c.2714A>C,missense_variant,,,,1,1461730,6.841208704753956e-7,0,0,,,18.3,0.514,0.00,0.00,0.0650,0.0100,0.314,0,33474,0,0,0,44714,0,0,0,26128,0,0,1,39694,0,0,0,53378,0,0,0,5768,0,0,0,1111942,0,0,,,,,0,86246,0,0,0,60386,0,0 +17-43092819-T-C,17,43092819,rs1057522242,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu904Glu,p.Glu904Glu,c.2712A>G,synonymous_variant,Likely benign,385498,,1,833110,0.0000012003216862119048,0,0,,,3.50,,0.00,0.0100,-0.309,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092820-T-C,17,43092820,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu904Gly,p.Glu904Gly,c.2711A>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.7,0.317,0.00,0.00,1.06,0.460,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092823-C-CAT,17,43092823,rs80357717,C,CAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys903TyrfsTer98,p.Cys903TyrfsTer98,c.2706_2707dup,frameshift_variant,Pathogenic,37483,lof_flag,4,1613896,0.000002478474449406901,0,0,nfe,6.800000000000001e-7,21.8,,0.00,0.00,0.169,,,0,74926,0,0,0,59974,0,0,0,29602,0,0,0,44888,0,0,0,63984,0,0,0,6084,0,0,3,1179970,0,0,0,912,0,0,0,91076,0,0,1,62480,0,0 +17-43092825-T-G,17,43092825,rs398122665,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Asp,p.Glu902Asp,c.2706A>C,missense_variant,Conflicting interpretations of pathogenicity,91597,,12,1461718,0.000008209517841334648,0,0,sas,0.00007997999999999999,8.23,0.394,0.00,0.00,-0.0100,0.120,0.340,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53368,0,0,0,5768,0,0,0,1111936,0,0,,,,,12,86246,0,0,0,60386,0,0 +17-43092825-T-C,17,43092825,rs398122665,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Glu,p.Glu902Glu,c.2706A>G,synonymous_variant,Likely benign,184424,,1,1461718,6.841264867778874e-7,0,0,,,3.83,,0.00,0.00,-0.0100,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53368,0,0,0,5768,0,0,1,1111936,0,0,,,,,0,86246,0,0,0,60386,0,0 +17-43092826-T-C,17,43092826,rs747287311,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu902Gly,p.Glu902Gly,c.2705A>G,missense_variant,Conflicting interpretations of pathogenicity,928778,,2,628618,0.0000031815824554817074,0,0,nfe,9.5e-7,13.3,0.435,0.00,0.0100,0.831,0.0600,0.219,0,17690,0,0,0,43734,0,0,0,20976,0,0,0,36062,0,0,0,53096,0,0,0,4148,0,0,2,350038,0,0,,,,,0,69786,0,0,0,33088,0,0 +17-43092827-CAA-C,17,43092827,rs80357899,CAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Ter,p.Phe901Ter,c.2702_2703del,frameshift_variant,Pathogenic,54653,lof_flag,1,833110,0.0000012003216862119048,0,0,,,22.0,,0.00,0.00,0.846,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092828-A-G,17,43092828,rs2154363694,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Phe,p.Phe901Phe,c.2703T>C,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,5.87,,0.00,0.00,1.89,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092829-A-G,17,43092829,rs397507202,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe901Ser,p.Phe901Ser,c.2702T>C,missense_variant,Conflicting interpretations of pathogenicity,37482,,3,1461720,0.000002052376652163205,0,0,sas,0.00000385,6.09,0.303,0.00,0.0100,0.536,0.390,0.00,0,33474,0,0,0,44716,0,0,0,26128,0,0,0,39692,0,0,0,53370,0,0,0,5768,0,0,1,1111942,0,0,,,,,2,86244,0,0,0,60386,0,0 +17-43092839-T-C,17,43092839,rs80357420,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys898Glu,p.Lys898Glu,c.2692A>G,missense_variant,Conflicting interpretations of pathogenicity,54649,,1,628610,0.0000015908114729323427,0,0,,,11.9,0.448,0.00,0.0100,1.42,0.410,0.219,0,17690,0,0,0,43732,0,0,0,20974,0,0,0,36062,0,0,0,53062,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69784,0,0,0,33088,0,0 +17-43092841-G-A,17,43092841,rs587776484,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro897Leu,p.Pro897Leu,c.2690C>T,missense_variant,Conflicting interpretations of pathogenicity,156188,,3,1613750,0.0000018590240123934934,0,0,nfe,6.800000000000001e-7,18.5,0.399,0.00,0.00,3.92,0.0900,0.893,0,74886,0,0,0,59964,0,0,0,29596,0,0,0,44880,0,0,0,63920,0,0,0,6084,0,0,3,1179974,0,0,0,912,0,0,0,91058,0,0,0,62476,0,0 +17-43092842-G-C,17,43092842,rs770583134,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro897Ala,p.Pro897Ala,c.2689C>G,missense_variant,,,,2,628580,0.000003181774793980082,0,0,sas,0.00000476,8.59,0.433,0.00,0.00,1.14,0.120,0.893,0,17690,0,0,0,43734,0,0,0,20974,0,0,0,36062,0,0,0,53040,0,0,0,4148,0,0,0,350058,0,0,,,,,2,69784,0,0,0,33090,0,0 +17-43092844-CTT-C,17,43092844,rs80357636,CTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro897LysfsTer5,p.Pro897LysfsTer5,c.2685_2686del,frameshift_variant,Pathogenic,54646,lof_flag,2,780682,0.0000025618625765676677,0,0,,,22.7,,0.00,0.00,0.904,,,0,59126,0,0,0,58976,0,0,0,24446,0,0,0,41256,0,0,0,63646,0,0,0,4464,0,0,1,418074,0,0,0,910,0,0,1,74606,0,0,0,35178,0,0 +17-43092846-T-C,17,43092846,rs1164046546,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln895Gln,p.Gln895Gln,c.2685A>G,synonymous_variant,,,,1,628592,0.0000015908570264973147,0,0,,,3.98,,0.00,0.00,2.38,,,0,17688,0,0,0,43730,0,0,0,20974,0,0,0,36062,0,0,0,53052,0,0,0,4148,0,0,0,350064,0,0,,,,,1,69784,0,0,0,33090,0,0 +17-43092848-GTT-G,17,43092848,rs80357971,GTT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys894ThrfsTer8,p.Lys894ThrfsTer8,c.2681_2682del,frameshift_variant,Pathogenic,17667,lof_flag,22,1613724,0.000013633062407202224,0,0,nfe,0.00001221,22.9,,0.00,0.00,2.56,,,0,74890,0,0,0,59966,0,0,0,29594,0,0,0,44878,0,0,0,63902,0,0,0,6084,0,0,22,1179954,0,0,0,912,0,0,0,91064,0,0,0,62480,0,0 +17-43092849-T-A,17,43092849,rs1131692093,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys894Asn,p.Lys894Asn,c.2682A>T,missense_variant,Conflicting interpretations of pathogenicity,489712,,1,628580,0.000001590887396990041,0,0,,,15.4,0.345,0.00,0.00,-0.0850,0.0500,0.491,0,17690,0,0,0,43730,0,0,0,20974,0,0,1,36062,0,0,0,53034,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69786,0,0,0,33090,0,0 +17-43092852-C-T,17,43092852,rs587781771,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Lys,p.Lys893Lys,c.2679G>A,synonymous_variant,Likely benign,231698,,1,1461672,6.841480167917289e-7,0,0,,,1.59,,0.00,0.00,1.41,,,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 +17-43092852-C-A,17,43092852,rs587781771,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Asn,p.Lys893Asn,c.2679G>T,missense_variant,Conflicting interpretations of pathogenicity,141468,,1,1461672,6.841480167917289e-7,0,0,,,12.6,0.291,0.00,0.00,1.41,0.0100,0.568,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 +17-43092852-C-G,17,43092852,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Asn,p.Lys893Asn,c.2679G>C,missense_variant,,,,2,1461672,0.0000013682960335834579,0,0,nfe,2.999999999999999e-7,12.7,0.291,0.00,0.00,1.41,0.0100,0.568,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53288,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86248,0,0,0,60386,0,0 +17-43092853-T-C,17,43092853,rs1567794714,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys893Arg,p.Lys893Arg,c.2678A>G,missense_variant,Conflicting interpretations of pathogenicity,581219,,3,1461700,0.000002052404734213587,0,0,sas,0.00000385,0.408,0.196,0.00,0.00,0.662,1.00,0.00300,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53294,0,0,0,5768,0,0,0,1111980,0,0,,,,,2,86248,0,0,1,60388,0,0 +17-43092857-A-G,17,43092857,rs137998759,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu892Leu,p.Leu892Leu,c.2674T>C,synonymous_variant,Likely benign,386793,,20,1461676,0.000013682922891256338,0,0,nfe,0.00000852,4.59,,0.00,0.00,0.589,,,0,33474,0,0,0,44724,0,0,0,26128,0,0,2,39690,0,0,0,53290,0,0,0,5768,0,0,16,1111970,0,0,,,,,0,86246,0,0,2,60386,0,0 +17-43092859-G-A,17,43092859,rs2053717743,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser891Phe,p.Ser891Phe,c.2672C>T,missense_variant,,,,1,628550,0.0000015909633282952827,0,0,,,9.54,0.369,0.00,0.00,1.03,0.0800,0.363,0,17692,0,0,0,43740,0,0,0,20978,0,0,1,36060,0,0,0,52984,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69786,0,0,0,33090,0,0 +17-43092861-C-A,17,43092861,rs786201677,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly890Gly,p.Gly890Gly,c.2670G>T,synonymous_variant,Likely benign,184769,,3,1613844,0.0000018589157316320538,0,0,,,1.81,,0.00,0.00,-0.00400,,,0,74926,0,0,0,59986,0,0,0,29602,0,0,0,44884,0,0,2,63886,0,0,0,6084,0,0,1,1179996,0,0,0,912,0,0,0,91086,0,0,0,62482,0,0 +17-43092862-C-A,17,43092862,rs80356874,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly890Val,p.Gly890Val,c.2669G>T,missense_variant,Benign,37479,,58,1613710,0.00003594202180069529,0,0,nfe,0.00003585,0.0280,0.349,0.00,0.00,-0.951,0.320,0.00700,4,74872,0,0,0,59960,0,0,0,29600,0,0,0,44876,0,0,0,63876,0,0,0,6084,0,0,54,1179988,0,0,0,912,0,0,0,91068,0,0,0,62474,0,0 +17-43092863-C-G,17,43092863,rs80357200,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly890Arg,p.Gly890Arg,c.2668G>C,missense_variant,,,,1,1461680,6.841442723441519e-7,0,0,,,0.0140,0.393,0.00,0.00,-2.83,0.530,0.00300,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092863-C-T,17,43092863,rs80357200,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly890Arg,p.Gly890Arg,c.2668G>A,missense_variant,Conflicting interpretations of pathogenicity,54634,,2,1461680,0.0000013682885446883039,0,0,,,0.0190,0.393,0.00,0.00,-2.83,0.530,0.00300,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86254,0,0,2,60388,0,0 +17-43092865-G-A,17,43092865,rs769712441,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser889Phe,p.Ser889Phe,c.2666C>T,missense_variant,Conflicting interpretations of pathogenicity,186759,,13,1461666,0.000008893960727006033,0,0,nfe,0.00000652,21.3,0.449,0.00,0.00,4.68,0.0200,0.887,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53256,0,0,0,5768,0,0,13,1111980,0,0,,,,,0,86252,0,0,0,60386,0,0 +17-43092865-G-C,17,43092865,rs769712441,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser889Cys,p.Ser889Cys,c.2666C>G,missense_variant,,,,1,1461666,6.841508251543102e-7,0,0,,,20.8,0.365,0.00,0.00,4.68,0.0100,0.996,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53256,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86252,0,0,0,60386,0,0 +17-43092867-G-A,17,43092867,rs1597868491,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888His,p.His888His,c.2664C>T,synonymous_variant,Likely benign,697410,,1,1461684,6.841424001357339e-7,0,0,,,0.721,,0.00,0.00,0.112,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53272,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43092868-T-A,17,43092868,rs876658843,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888Leu,p.His888Leu,c.2663A>T,missense_variant,Conflicting interpretations of pathogenicity,482938,,2,1461690,0.000001368279183684639,0,0,nfe,2.999999999999999e-7,1.17,0.526,0.00,0.00,-0.506,0.320,0.886,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092868-T-G,17,43092868,rs876658843,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His888Pro,p.His888Pro,c.2663A>C,missense_variant,Conflicting interpretations of pathogenicity,230920,,1,1461690,6.841395918423195e-7,0,0,,,1.78,0.540,0.00,0.00,-0.506,0.150,0.414,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53276,0,0,0,5768,0,0,0,1111978,0,0,,,,,1,86254,0,0,0,60390,0,0 +17-43092869-G-A,17,43092869,rs80357480,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His888Tyr,p.His888Tyr,c.2662C>T,missense_variant,Conflicting interpretations of pathogenicity,54632,,42,1613814,0.000026025304031319596,0,0,amr,0.00008998999999999998,5.02,0.485,0.00,0.00,0.991,0.550,0.444,0,74922,0,0,10,59990,0,0,0,29598,0,0,0,44886,0,0,0,63844,0,0,0,6084,0,0,30,1180018,0,0,0,912,0,0,0,91080,0,0,2,62480,0,0 +17-43092872-CAG-C,17,43092872,rs397508990,CAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser886CysfsTer16,p.Ser886CysfsTer16,c.2657_2658del,frameshift_variant,Pathogenic,54629,lof_flag,4,1461672,0.0000027365920671669158,0,0,nfe,8.4e-7,22.8,,0.00,0.00,0.932,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39694,0,0,0,53252,0,0,0,5768,0,0,4,1111980,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092874-G-C,17,43092874,rs587782134,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser886Cys,p.Ser886Cys,c.2657C>G,missense_variant,Conflicting interpretations of pathogenicity,141950,,1,152190,0.000006570733950982325,0,0,,,0.00200,0.390,0.00,0.00,-6.26,0.880,0.00600,1,41462,0,0,0,15274,0,0,0,3472,0,0,0,5192,0,0,0,10620,0,0,0,316,0,0,0,68036,0,0,0,910,0,0,0,4818,0,0,0,2090,0,0 +17-43092875-A-G,17,43092875,rs762310583,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser886Pro,p.Ser886Pro,c.2656T>C,missense_variant,,,,2,1461678,0.0000013682904169044072,0,0,sas,0.00000385,13.6,0.596,0.00,0.00,-0.215,0.230,0.699,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39694,0,0,0,53264,0,0,0,5768,0,0,0,1111972,0,0,,,,,2,86256,0,0,0,60392,0,0 +17-43092876-G-C,17,43092876,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe885Leu,p.Phe885Leu,c.2655C>G,missense_variant,Uncertain significance,2565359,,1,1461638,6.841639311512153e-7,0,0,,,9.30,0.282,0.00,0.00,0.307,0.190,0.0170,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39694,0,0,0,53230,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092882-T-G,17,43092882,rs2154366693,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala883Ala,p.Ala883Ala,c.2649A>C,synonymous_variant,Likely benign,1050140,,1,628524,0.0000015910291412897518,0,0,,,7.30,,0.00,0.00,-0.459,,,0,17692,0,0,0,43740,0,0,0,20976,0,0,0,36064,0,0,0,52966,0,0,0,4148,0,0,1,350048,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43092883-G-A,17,43092883,rs431825391,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala883Val,p.Ala883Val,c.2648C>T,missense_variant,Conflicting interpretations of pathogenicity,96907,,2,628486,0.0000031822506786149574,0,0,,,10.0,0.464,0.00,0.00,1.27,0.550,0.531,0,17690,0,0,0,43740,0,0,0,20978,0,0,0,36064,0,0,2,52922,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43092885-A-T,17,43092885,rs2053723557,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys882Ter,p.Cys882Ter,c.2646T>A,stop_gained,Pathogenic,2573266,lof_flag,1,628510,0.0000015910645813113554,0,0,,,35.0,,0.00,0.00,2.05,,,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36060,0,0,0,52954,0,0,0,4148,0,0,1,350052,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43092886-C-G,17,43092886,rs1555589241,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys882Ser,p.Cys882Ser,c.2645G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,1.15,0.529,0.00,0.00,-0.383,0.320,0.740,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43092887-A-T,17,43092887,rs184374817,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys882Ser,p.Cys882Ser,c.2644T>A,missense_variant,Conflicting interpretations of pathogenicity,245978,,1,152304,0.000006565815736947158,0,0,,,15.7,0.496,0.00,0.0100,0.523,0.320,0.740,0,41570,0,0,1,15296,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4830,0,0,0,2108,0,0 +17-43092887-A-C,17,43092887,rs184374817,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys882Gly,p.Cys882Gly,c.2644T>G,missense_variant,,,,1,152304,0.000006565815736947158,0,0,,,21.1,0.507,0.00,0.0100,0.523,,,0,41570,0,0,0,15296,0,0,0,3472,0,0,0,5188,0,0,0,10612,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,1,4830,0,0,0,2108,0,0 +17-43092890-C-G,17,43092890,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Gln,p.Glu881Gln,c.2641G>C,missense_variant,,,,1,628494,0.0000015911050861265183,0,0,,,17.0,0.543,0.00,0.00,1.57,0.0800,0.904,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,0,350052,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092890-C-T,17,43092890,rs397508988,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Lys,p.Glu881Lys,c.2641G>A,missense_variant,,,,1,628494,0.0000015911050861265183,0,0,,,14.0,0.351,0.00,0.00,1.57,0.120,0.248,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,0,350052,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43092890-C-A,17,43092890,rs397508988,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu881Ter,p.Glu881Ter,c.2641G>T,stop_gained,Pathogenic,54625,lof_flag,3,628494,0.000004773315258379555,0,0,nfe,9.5e-7,34.0,,0.00,0.0100,1.57,,,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,0,52934,0,0,0,4148,0,0,2,350052,0,0,,,,,0,69794,0,0,1,33094,0,0 +17-43092891-C-G,17,43092891,rs2154367261,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Asp,p.Glu880Asp,c.2640G>C,missense_variant,,,,1,1461586,6.841882721919887e-7,0,0,,,18.2,0.407,0.00,0.00,1.35,0.00,0.210,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53192,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86256,0,0,0,60390,0,0 +17-43092892-T-A,17,43092892,rs2154367305,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Val,p.Glu880Val,c.2639A>T,missense_variant,,,,1,628496,0.0000015911000229118403,0,0,,,21.0,0.434,0.00,0.00,1.34,0.00,0.266,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,1,52932,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43092893-C-G,17,43092893,rs587782370,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu880Gln,p.Glu880Gln,c.2638G>C,missense_variant,Conflicting interpretations of pathogenicity,142303,,2,628486,0.0000031822506786149574,0,0,amr,0.000007580000000000001,8.78,0.469,0.00,0.00,2.24,0.110,0.158,0,17692,0,0,2,43740,0,0,0,20980,0,0,0,36062,0,0,0,52920,0,0,0,4148,0,0,0,350054,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43092896-C-T,17,43092896,rs80357251,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu879Lys,p.Glu879Lys,c.2635G>A,missense_variant,Likely benign,54624,,1,1461574,6.841938896012108e-7,0,0,,,21.1,0.529,0.00,0.00,3.77,0.0700,0.513,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53178,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86256,0,0,0,60386,0,0 +17-43092897-T-C,17,43092897,rs730881451,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala878Ala,p.Ala878Ala,c.2634A>G,synonymous_variant,Likely benign,182092,,55,1613812,0.00003408079751544789,1,0,amr,0.00024813000000000005,9.46,,0.00,0.00,-0.128,,,0,74952,0,0,22,60004,0,0,2,29602,0,0,0,44890,0,0,0,63802,0,0,3,6084,1,0,10,1180006,0,0,0,912,0,0,17,91084,0,0,1,62476,0,0 +17-43092897-T-G,17,43092897,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala878Ala,p.Ala878Ala,c.2634A>C,synonymous_variant,,,,2,1461578,0.000001368384034242442,0,0,nfe,2.999999999999999e-7,9.15,,0.00,0.00,-0.128,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53184,0,0,0,5768,0,0,2,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092899-CATTTCCTGG-C,17,43092899,,CATTTCCTGG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875_Asn877del,p.Pro875_Asn877del,c.2623_2631del,inframe_deletion,,,,2,1461562,0.0000013683990142053501,0,0,nfe,2.999999999999999e-7,15.9,,0.00,0.00,-0.0540,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53170,0,0,0,5768,0,0,2,1111960,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092901-T-C,17,43092901,rs786203689,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn877Ser,p.Asn877Ser,c.2630A>G,missense_variant,Conflicting interpretations of pathogenicity,187381,,23,1461582,0.00001573637332698405,0,0,nfe,0.00001295,13.7,0.206,0.00,0.00,2.01,0.220,0.100,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,22,1111956,0,0,,,,,1,86256,0,0,0,60390,0,0 +17-43092904-C-G,17,43092904,rs2154367824,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly876Ala,p.Gly876Ala,c.2627G>C,missense_variant,,,,1,628472,0.0000015911607836148627,0,0,,,17.9,0.383,0.00,0.00,0.484,0.0600,0.329,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36062,0,0,0,52898,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69796,0,0,0,33094,0,0 +17-43092905-C-A,17,43092905,rs1567794885,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly876Ter,p.Gly876Ter,c.2626G>T,stop_gained,,,lof_flag,1,1461570,6.841957620914496e-7,0,0,,,35.0,,0.00,0.00,0.652,,,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53172,0,0,0,5768,0,0,1,1111964,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43092906-T-C,17,43092906,rs754222140,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro875Pro,p.Pro875Pro,c.2625A>G,synonymous_variant,Likely benign,230865,,4,780700,0.0000051236070193416165,0,0,afr,0.000022770000000000004,10.6,,0.00,0.0100,0.256,,,4,59158,0,0,0,59014,0,0,0,24444,0,0,0,41262,0,0,0,63524,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74632,0,0,0,35188,0,0 +17-43092907-G-C,17,43092907,rs867654871,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875Arg,p.Pro875Arg,c.2624C>G,missense_variant,Conflicting interpretations of pathogenicity,964381,,1,833108,0.0000012003245677631232,0,0,,,23.0,0.390,0.00,0.0100,2.50,0.00,0.989,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092908-G-C,17,43092908,rs866257451,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro875Ala,p.Pro875Ala,c.2623C>G,missense_variant,Conflicting interpretations of pathogenicity,1793976,,9,1461536,0.000006157905108050708,0,0,sas,0.00004578999999999998,20.7,0.375,0.0100,0.0100,0.0770,0.0200,0.897,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53136,0,0,0,5768,0,0,0,1111966,0,0,,,,,8,86254,0,0,1,60390,0,0 +17-43092910-T-C,17,43092910,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn874Ser,p.Asn874Ser,c.2621A>G,missense_variant,,,,1,1461578,6.84192017121221e-7,0,0,,,17.9,0.127,0.00,0.0100,0.708,0.230,0.673,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53170,0,0,0,5768,0,0,1,1111970,0,0,,,,,0,86256,0,0,0,60392,0,0 +17-43092911-T-G,17,43092911,rs1064795862,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn874His,p.Asn874His,c.2620A>C,missense_variant,Conflicting interpretations of pathogenicity,422565,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,22.5,0.302,0.00,0.00,0.977,0.0900,0.665,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092913-G-C,17,43092913,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser873Ter,p.Ser873Ter,c.2618C>G,stop_gained,,,lof_flag,1,1461534,6.842126149648246e-7,0,0,,,38.0,,0.00,0.00,5.89,,,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53144,0,0,0,5766,0,0,1,1111960,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43092918-C-T,17,43092918,rs587782608,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Pro,p.Pro871Pro,c.2613G>A,synonymous_variant,Likely benign,142642,,19,1613722,0.00001177402303494654,0,0,eas,0.00005786999999999997,9.70,,0.00,0.00,1.37,,,0,74912,0,0,0,59986,0,0,0,29602,0,0,6,44890,0,0,0,63762,0,0,0,6084,0,0,13,1180002,0,0,0,912,0,0,0,91090,0,0,0,62482,0,0 +17-43092919-G-A,17,43092919,rs799917,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Leu,p.Pro871Leu,c.2612C>T,missense_variant,Benign,41812,,606755,1613362,0.37608112748409844,124333,0,afr,0.8144708500000001,17.7,0.140,0.0100,0.0400,3.68,1.00,0.00,61491,74998,25316,0,21893,59996,4094,0,10955,29602,2020,0,15924,44852,2878,0,25369,63608,5031,0,2579,6062,574,0,395791,1179760,66417,0,260,910,41,0,48024,91076,12960,0,24469,62498,5002,0 +17-43092919-G-C,17,43092919,rs799917,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro871Arg,p.Pro871Arg,c.2612C>G,missense_variant,Conflicting interpretations of pathogenicity,91594,,6,1613424,0.000003718799274090382,0,0,amr,0.00004284999999999998,23.0,0.325,0.00,0.00,3.68,0.00,0.00300,0,74886,0,0,6,59986,0,0,0,29602,0,0,0,44872,0,0,0,63636,0,0,0,6084,0,0,0,1179882,0,0,0,910,0,0,0,91086,0,0,0,62480,0,0 +17-43092919-G-T,17,43092919,rs799917,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro871Gln,p.Pro871Gln,c.2612C>A,missense_variant,Conflicting interpretations of pathogenicity,54618,,2,1461428,0.0000013685244842715482,0,0,nfe,2.999999999999999e-7,22.9,0.315,0.00,0.00,3.68,0.0100,0.00,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39684,0,0,0,53090,0,0,0,5768,0,0,2,1111912,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43092921-A-G,17,43092921,rs2053729923,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala870Ala,p.Ala870Ala,c.2610T>C,synonymous_variant,Likely benign,925534,,1,628402,0.0000015913380288414103,0,0,,,11.1,,0.00,0.00,0.299,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36058,0,0,0,52852,0,0,0,4148,0,0,1,350050,0,0,,,,,0,69796,0,0,0,33088,0,0 +17-43092922-G-A,17,43092922,rs1060502324,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala870Val,p.Ala870Val,c.2609C>T,missense_variant,Conflicting interpretations of pathogenicity,409297,,2,780532,0.000002562354906653411,0,0,,,24.2,0.734,0.00,0.0200,5.85,0.0500,0.951,0,59146,0,0,2,59004,0,0,0,24448,0,0,0,41262,0,0,0,63408,0,0,0,4464,0,0,0,418082,0,0,0,912,0,0,0,74626,0,0,0,35180,0,0 +17-43092923-C-G,17,43092923,rs753256448,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala870Pro,p.Ala870Pro,c.2608G>C,missense_variant,Conflicting interpretations of pathogenicity,937580,,1,1461482,6.842369594699079e-7,0,0,,,23.6,0.766,0.00,0.00,4.06,0.00,0.999,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39690,0,0,0,53100,0,0,0,5768,0,0,1,1111952,0,0,,,,,0,86256,0,0,0,60386,0,0 +17-43092926-A-G,17,43092926,rs2154368926,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe869Leu,p.Phe869Leu,c.2605T>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,26.6,0.888,0.00,0.00,6.33,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092928-G-C,17,43092928,rs80356925,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser868Ter,p.Ser868Ter,c.2603C>G,stop_gained,Pathogenic,37477,lof_flag,2,628348,0.0000031829495757128214,0,0,sas,0.00000476,38.0,,0.00,0.0200,8.80,,,0,17692,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,0,52822,0,0,0,4148,0,0,0,350038,0,0,,,,,2,69788,0,0,0,33086,0,0 +17-43092929-A-G,17,43092929,rs2154369061,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser868Pro,p.Ser868Pro,c.2602T>C,missense_variant,,,,1,1461498,6.842294686684484e-7,0,0,,,25.2,0.750,0.00,0.00,4.71,0.00,0.995,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53128,0,0,0,5768,0,0,1,1111944,0,0,,,,,0,86254,0,0,0,60386,0,0 +17-43092934-C-T,17,43092934,rs80356911,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg866His,p.Arg866His,c.2597G>A,missense_variant,Benign,54613,,32,1613622,0.000019831162440769895,0,0,nfe,0.00001645,25.9,0.735,0.00,0.00,7.13,0.0100,0.986,2,74936,0,0,0,59982,0,0,0,29600,0,0,0,44894,0,0,0,63714,0,0,0,6084,0,0,28,1179948,0,0,0,912,0,0,2,91076,0,0,0,62476,0,0 +17-43092934-C-A,17,43092934,rs80356911,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg866Leu,p.Arg866Leu,c.2597G>T,missense_variant,,,,1,1461432,6.842603692816361e-7,0,0,,,25.8,0.759,0.00,0.0100,7.13,0.00,0.999,0,33476,0,0,0,44720,0,0,0,26130,0,0,0,39688,0,0,0,53092,0,0,0,5768,0,0,1,1111926,0,0,,,,,0,86248,0,0,0,60384,0,0 +17-43092935-G-A,17,43092935,rs41286300,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg866Cys,p.Arg866Cys,c.2596C>T,missense_variant,Benign,41811,,313,1613668,0.00019396802811978673,0,0,nfe,0.00021722,28.2,0.847,0.00,0.00,7.02,0.00,1.00,4,75032,0,0,0,60000,0,0,8,29602,0,0,0,44878,0,0,2,63678,0,0,3,6060,0,0,284,1179938,0,0,0,912,0,0,5,91070,0,0,7,62498,0,0 +17-43092936-C-T,17,43092936,rs1268762258,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys865Lys,p.Lys865Lys,c.2595G>A,synonymous_variant,Likely benign,799836,,4,1613702,0.0000024787724127503096,0,0,,,8.15,,0.00,0.00,0.0300,,,2,74938,0,0,1,59990,0,0,0,29600,0,0,0,44896,0,0,0,63754,0,0,0,6084,0,0,1,1179972,0,0,0,912,0,0,0,91080,0,0,0,62476,0,0 +17-43092937-T-A,17,43092937,rs1396916075,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys865Met,p.Lys865Met,c.2594A>T,missense_variant,,,,1,628366,0.0000015914291989063699,0,0,,,25.5,0.790,0.00,0.00,2.99,0.00,0.999,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,0,52864,0,0,0,4148,0,0,1,350018,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43092939-T-C,17,43092939,rs2154369596,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser864Ser,p.Ser864Ser,c.2592A>G,synonymous_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,10.2,,0.00,0.0100,0.353,,,0,33474,0,0,0,44720,0,0,0,26128,0,0,0,39688,0,0,0,53142,0,0,0,5768,0,0,1,1111922,0,0,,,,,0,86252,0,0,0,60382,0,0 +17-43092940-G-A,17,43092940,rs80357003,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser864Leu,p.Ser864Leu,c.2591C>T,missense_variant,Conflicting interpretations of pathogenicity,54611,,2,628328,0.000003183050890617639,0,0,amr,0.000007580000000000001,26.6,0.730,0.00,0.0100,8.80,0.00,1.00,0,17688,0,0,2,43734,0,0,0,20974,0,0,0,36058,0,0,0,52832,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69792,0,0,0,33082,0,0 +17-43092943-A-G,17,43092943,rs757440752,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val863Ala,p.Val863Ala,c.2588T>C,missense_variant,Conflicting interpretations of pathogenicity,1793452,,1,628364,0.0000015914342642162824,0,0,,,6.48,0.553,0.00,0.0100,-0.454,0.470,0.0970,0,17688,0,0,0,43738,0,0,0,20974,0,0,0,36056,0,0,0,52888,0,0,0,4148,0,0,1,350000,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43092946-T-G,17,43092946,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys862Thr,p.Lys862Thr,c.2585A>C,missense_variant,,,,2,1461472,0.0000013684832826082197,0,0,nfe,2.999999999999999e-7,22.5,0.666,0.00,0.00,-0.107,0.00,0.978,0,33474,0,0,0,44718,0,0,0,26128,0,0,0,39688,0,0,0,53156,0,0,0,5768,0,0,2,1111914,0,0,,,,,0,86248,0,0,0,60378,0,0 +17-43092946-T-C,17,43092946,rs2053734181,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys862Arg,p.Lys862Arg,c.2585A>G,missense_variant,Conflicting interpretations of pathogenicity,845804,,1,1461470,6.842425776786386e-7,0,0,,,13.4,0.607,0.00,0.00,-0.107,0.290,0.530,0,33474,0,0,0,44718,0,0,0,26128,0,0,0,39688,0,0,0,53154,0,0,0,5768,0,0,1,1111914,0,0,,,,,0,86248,0,0,0,60378,0,0 +17-43092947-T-C,17,43092947,rs80356927,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys862Glu,p.Lys862Glu,c.2584A>G,missense_variant,Benign,37476,,62,1613700,0.00003842102001611204,0,0,nfe,0.00002826,24.7,0.808,0.00,0.00,5.52,0.0100,0.876,1,74936,0,0,1,59990,0,0,0,29600,0,0,0,44888,0,0,2,63790,0,0,2,6084,0,0,44,1179952,0,0,0,912,0,0,5,91076,0,0,7,62472,0,0 +17-43092948-G-T,17,43092948,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe861Leu,p.Phe861Leu,c.2583C>A,missense_variant,,,,1,1461440,6.842566236041164e-7,0,0,,,24.9,0.823,0.00,0.00,3.88,0.00,0.991,0,33472,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53140,0,0,0,5768,0,0,1,1111898,0,0,,,,,0,86244,0,0,0,60380,0,0 +17-43092951-T-C,17,43092951,rs556684572,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr860Thr,p.Thr860Thr,c.2580A>G,synonymous_variant,Likely benign,233787,,13,1613850,0.000008055271555596865,0,0,sas,0.00006762999999999999,7.92,,0.00,0.00,-3.25,,,0,75068,0,0,0,60012,0,0,0,29602,0,0,0,44882,0,0,0,63808,0,0,0,6062,0,0,0,1179932,0,0,0,912,0,0,11,91080,0,0,2,62492,0,0 +17-43092953-T-A,17,43092953,rs373207084,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr860Ser,p.Thr860Ser,c.2578A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,24.3,0.739,0.00,0.00,4.72,0.0300,0.725,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092954-A-G,17,43092954,rs1555589344,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn859Asn,p.Asn859Asn,c.2577T>C,synonymous_variant,Likely benign,531529,,1,833110,0.0000012003216862119048,0,0,,,9.24,,0.00,0.00,-0.00200,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092957-C-T,17,43092957,rs1555589357,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln858Gln,p.Gln858Gln,c.2574G>A,synonymous_variant,Likely benign,491048,,3,1461330,0.000002052924390794687,0,0,nfe,7.200000000000001e-7,6.82,,0.00,0.00,1.07,,,0,33464,0,0,0,44716,0,0,0,26126,0,0,0,39690,0,0,0,53176,0,0,0,5768,0,0,3,1111796,0,0,,,,,0,86222,0,0,0,60372,0,0 +17-43092959-G-C,17,43092959,rs397508983,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln858Glu,p.Gln858Glu,c.2572C>G,missense_variant,,,,1,628224,0.0000015917889160554196,0,0,,,18.0,0.724,0.00,0.00,3.48,0.0300,0.759,0,17680,0,0,0,43732,0,0,0,20978,0,0,0,36058,0,0,0,52882,0,0,0,4148,0,0,0,349906,0,0,,,,,1,69768,0,0,0,33072,0,0 +17-43092962-A-G,17,43092962,rs779895958,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu857Leu,p.Leu857Leu,c.2569T>C,synonymous_variant,Likely benign,184852,,1,628228,0.0000015917787809521384,0,0,,,9.71,,0.00,0.00,1.38,,,1,17680,0,0,0,43732,0,0,0,20978,0,0,0,36056,0,0,0,52948,0,0,0,4148,0,0,0,349834,0,0,,,,,0,69780,0,0,0,33072,0,0 +17-43092964-TACTGA-T,17,43092964,,TACTGA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855PhefsTer46,p.Gln855PhefsTer46,c.2562_2566del,frameshift_variant,,,lof_flag,1,1461350,6.842987648407295e-7,0,0,,,32.0,,0.00,0.0100,0.158,,,0,33468,0,0,0,44716,0,0,0,26128,0,0,0,39686,0,0,0,53234,0,0,0,5768,0,0,1,1111742,0,0,,,,,0,86234,0,0,0,60374,0,0 +17-43092965-A-G,17,43092965,rs80356892,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr856His,p.Tyr856His,c.2566T>C,missense_variant,Benign,54604,,762,1613694,0.00047220848562366845,5,0,eas,0.013238669999999998,23.3,0.815,0.00,0.00,0.289,0.0200,0.733,0,75054,0,0,4,60008,0,0,0,29600,0,0,635,44876,5,0,0,63870,0,0,0,6062,0,0,11,1179752,0,0,0,912,0,0,39,91070,0,0,73,62490,0,0 +17-43092966-C-T,17,43092966,rs1597869178,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Gln,p.Gln855Gln,c.2565G>A,synonymous_variant,Likely benign,821494,,1,1461298,6.843231154767884e-7,0,0,,,7.09,,0.00,0.00,2.08,,,0,33464,0,0,0,44714,0,0,0,26126,0,0,0,39686,0,0,0,53236,0,0,0,5768,0,0,1,1111702,0,0,,,,,0,86230,0,0,0,60372,0,0 +17-43092967-T-G,17,43092967,rs768001441,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln855Pro,p.Gln855Pro,c.2564A>C,missense_variant,Conflicting interpretations of pathogenicity,186203,,5,780284,0.000006407923268963608,0,0,eas,0.0000326,25.4,0.883,0.00,0.0100,6.36,0.00,1.00,0,59140,0,0,0,59000,0,0,0,24444,0,0,4,41254,0,0,0,63594,0,0,0,4464,0,0,1,417714,0,0,0,912,0,0,0,74606,0,0,0,35156,0,0 +17-43092967-T-C,17,43092967,rs768001441,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Arg,p.Gln855Arg,c.2564A>G,missense_variant,Conflicting interpretations of pathogenicity,531320,,1,628024,0.00000159229583582793,0,0,,,25.1,0.838,0.00,0.0100,6.36,0.00,1.00,0,17672,0,0,0,43718,0,0,0,20974,0,0,0,36046,0,0,0,52968,0,0,0,4148,0,0,1,349666,0,0,,,,,0,69770,0,0,0,33062,0,0 +17-43092967-T-A,17,43092967,rs768001441,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Leu,p.Gln855Leu,c.2564A>T,missense_variant,Conflicting interpretations of pathogenicity,491047,,2,628024,0.00000318459167165586,0,0,nfe,9.5e-7,25.7,0.847,0.0100,0.0400,6.36,0.00,0.993,0,17672,0,0,0,43718,0,0,0,20974,0,0,0,36046,0,0,0,52968,0,0,0,4148,0,0,2,349666,0,0,,,,,0,69770,0,0,0,33062,0,0 +17-43092968-G-A,17,43092968,rs80357131,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855Ter,p.Gln855Ter,c.2563C>T,stop_gained,Pathogenic,37475,lof_flag,1,628040,0.000001592255270364945,0,0,,,40.0,,0.00,0.0100,8.80,,,0,17678,0,0,0,43722,0,0,0,20972,0,0,0,36052,0,0,0,52936,0,0,0,4148,0,0,1,349706,0,0,,,,,0,69758,0,0,0,33068,0,0 +17-43092969-A-AGC,17,43092969,rs80357968,A,AGC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln855LeufsTer39,p.Gln855LeufsTer39,c.2560_2561dup,frameshift_variant,Pathogenic,54600,lof_flag,3,1461104,0.0000020532419321280347,0,0,nfe,7.200000000000001e-7,27.1,,0.00,0.00,-1.02,,,0,33462,0,0,0,44708,0,0,0,26122,0,0,0,39676,0,0,0,53254,0,0,0,5768,0,0,3,1111528,0,0,,,,,0,86222,0,0,0,60364,0,0 +17-43092969-A-C,17,43092969,rs1182712531,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala854Ala,p.Ala854Ala,c.2562T>G,synonymous_variant,,,,1,1461104,6.844139773760115e-7,0,0,,,8.64,,0.00,0.0100,-1.02,,,0,33462,0,0,0,44708,0,0,0,26122,0,0,0,39676,0,0,0,53254,0,0,0,5768,0,0,0,1111528,0,0,,,,,1,86222,0,0,0,60364,0,0 +17-43092976-A-C,17,43092976,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu852Arg,p.Leu852Arg,c.2555T>G,missense_variant,,,,1,628006,0.0000015923414744445118,0,0,,,26.0,0.779,0.00,0.00,6.33,0.00,0.996,0,17676,0,0,0,43730,0,0,0,20972,0,0,0,36042,0,0,0,53000,0,0,0,4148,0,0,1,349598,0,0,,,,,0,69774,0,0,0,33066,0,0 +17-43092976-A-G,17,43092976,rs1555589415,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu852Pro,p.Leu852Pro,c.2555T>C,missense_variant,Conflicting interpretations of pathogenicity,462591,,3,780198,0.000003845177762567963,0,0,amr,0.00000562,26.3,0.785,0.00,0.00,6.33,0.00,0.955,0,59130,0,0,2,59002,0,0,0,24442,0,0,0,41244,0,0,0,63608,0,0,0,4464,0,0,1,417626,0,0,0,912,0,0,0,74612,0,0,0,35158,0,0 +17-43092977-GTT-G,17,43092977,rs886040050,GTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu851AlafsTer2,p.Glu851AlafsTer2,c.2552_2553del,frameshift_variant,Pathogenic,266280,lof_flag,1,833110,0.0000012003216862119048,0,0,,,32.0,,0.00,0.0100,4.88,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092980-C-T,17,43092980,rs398122662,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu851Lys,p.Glu851Lys,c.2551G>A,missense_variant,Conflicting interpretations of pathogenicity,91593,,2,780086,0.000002563819886525332,0,0,,,25.9,0.751,0.00,0.00,7.13,0.0100,0.967,0,59124,0,0,0,58994,0,0,0,24440,0,0,0,41250,0,0,0,63610,0,0,0,4464,0,0,1,417550,0,0,0,912,0,0,1,74592,0,0,0,35150,0,0 +17-43092983-T-C,17,43092983,rs1555589429,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser850Gly,p.Ser850Gly,c.2548A>G,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,23.0,0.634,0.00,0.0100,3.74,0.0100,0.776,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092984-T-C,17,43092984,rs2154371845,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu849Glu,p.Glu849Glu,c.2547A>G,synonymous_variant,,,,1,627994,0.0000015923719016423724,0,0,,,3.54,,0.00,0.00,-0.297,,,0,17676,0,0,0,43736,0,0,0,20974,0,0,0,36044,0,0,0,53008,0,0,0,4148,0,0,0,349572,0,0,,,,,1,69774,0,0,0,33062,0,0 +17-43092990-C-T,17,43092990,rs80357195,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met847Ile,p.Met847Ile,c.2541G>A,missense_variant,Conflicting interpretations of pathogenicity,54594,,2,1461132,0.0000013688017235951304,0,0,nfe,2.999999999999999e-7,10.7,0.404,0.00,0.00,0.0190,0.0900,0.0260,0,33464,0,0,0,44718,0,0,0,26124,0,0,0,39674,0,0,0,53282,0,0,0,5768,0,0,2,1111534,0,0,,,,,0,86212,0,0,0,60356,0,0 +17-43092991-A-G,17,43092991,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met847Thr,p.Met847Thr,c.2540T>C,missense_variant,,,,1,1461168,6.843839996495954e-7,0,0,,,17.1,0.447,0.00,0.00,0.939,0.230,0.0780,0,33464,0,0,0,44718,0,0,0,26124,0,0,0,39672,0,0,0,53308,0,0,1,5766,0,0,0,1111526,0,0,,,,,0,86226,0,0,0,60364,0,0 +17-43092994-T-C,17,43092994,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu846Gly,p.Glu846Gly,c.2537A>G,missense_variant,,,,3,833108,0.0000036009737032893692,0,0,nfe,0.00000105,22.5,0.477,0.00,0.00,2.97,0.0200,0.248,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43092997-A-G,17,43092997,rs397508976,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile845Thr,p.Ile845Thr,c.2534T>C,missense_variant,Conflicting interpretations of pathogenicity,54593,,1,628266,0.0000015916825039075804,0,0,,,1.36,0.529,0.00,0.0100,0.407,0.790,0.140,0,17688,0,0,0,43736,0,0,0,20972,0,0,0,36052,0,0,0,53028,0,0,0,4148,0,0,1,349798,0,0,,,,,0,69772,0,0,0,33072,0,0 +17-43093001-T-C,17,43093001,rs1420399110,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser844Gly,p.Ser844Gly,c.2530A>G,missense_variant,Conflicting interpretations of pathogenicity,1792691,,2,833110,0.0000024006433724238097,0,0,,,8.88,0.416,0.00,0.00,0.254,0.100,0.0810,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,1,27298,0,0 +17-43093004-T-C,17,43093004,rs80357435,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr843Ala,p.Thr843Ala,c.2527A>G,missense_variant,Conflicting interpretations of pathogenicity,54592,,6,628468,0.000009547025465099258,0,0,eas,0.00007155999999999997,5.82,0.431,0.00,0.00,0.898,0.290,0.291,0,17692,0,0,0,43738,0,0,0,20972,0,0,6,36056,0,0,0,53030,0,0,0,4146,0,0,0,349970,0,0,,,,,0,69780,0,0,0,33084,0,0 +17-43093006-T-C,17,43093006,rs28897684,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu842Gly,p.Glu842Gly,c.2525A>G,missense_variant,Benign,91592,,63,1613804,0.00003903819794721044,0,0,nfe,0.00004019,17.4,0.407,0.00,0.00,2.35,0.0300,0.819,1,74942,0,0,0,59992,0,0,0,29594,0,0,0,44890,0,0,0,63934,0,0,0,6084,0,0,60,1179906,0,0,0,912,0,0,0,91076,0,0,2,62474,0,0 +17-43093007-C-A,17,43093007,rs876658552,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu842Ter,p.Glu842Ter,c.2524G>T,stop_gained,Pathogenic,266273,lof_flag,1,833110,0.0000012003216862119048,0,0,,,33.0,,0.00,0.0100,3.02,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093008-C-T,17,43093008,rs773013395,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Arg,p.Arg841Arg,c.2523G>A,synonymous_variant,Likely benign,185316,,11,1461524,0.000007526390261124689,0,0,nfe,0.00000455,2.86,,0.00,0.00,0.347,,,0,33476,0,0,0,44722,0,0,0,26126,0,0,0,39686,0,0,0,53288,0,0,0,5766,0,0,10,1111848,0,0,,,,,0,86232,0,0,1,60380,0,0 +17-43093009-C-A,17,43093009,rs80357337,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Leu,p.Arg841Leu,c.2522G>T,missense_variant,Conflicting interpretations of pathogenicity,1792565,,1,1461514,6.842219780310007e-7,0,0,,,8.03,0.411,0.00,0.00,0.264,0.160,0.00700,0,33476,0,0,0,44722,0,0,0,26122,0,0,0,39684,0,0,0,53280,0,0,0,5768,0,0,1,1111854,0,0,,,,,0,86228,0,0,0,60380,0,0 +17-43093009-C-T,17,43093009,rs80357337,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg841Gln,p.Arg841Gln,c.2522G>A,missense_variant,Benign/Likely benign,54591,,117,1613790,0.00007250013942334505,0,0,nfe,0.00007491,2.40,0.385,0.00,0.00,0.264,1.00,0.00,2,75034,0,0,0,60004,0,0,0,29588,0,0,1,44874,0,0,0,63882,0,0,0,6062,0,0,105,1179882,0,0,0,912,0,0,2,91058,0,0,7,62494,0,0 +17-43093010-G-A,17,43093010,rs1800709,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg841Trp,p.Arg841Trp,c.2521C>T,missense_variant,Benign,17681,,4110,1613768,0.0025468344892202598,7,0,nfe,0.00298986,22.0,0.355,0.00,0.00,2.28,0.00,0.00600,49,75014,0,0,57,60010,1,0,0,29592,0,0,0,44870,0,0,48,63884,0,0,4,6062,0,0,3627,1179874,4,0,0,912,0,0,176,91062,2,0,149,62488,0,0 +17-43093010-G-T,17,43093010,rs1800709,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg841Arg,p.Arg841Arg,c.2521C>A,synonymous_variant,,,,2,1461524,0.0000013684345929317617,0,0,nfe,2.999999999999999e-7,2.44,,0.00,0.0100,2.28,,,0,33476,0,0,0,44722,0,0,0,26124,0,0,0,39684,0,0,0,53282,0,0,0,5768,0,0,2,1111862,0,0,,,,,0,86230,0,0,0,60376,0,0 +17-43093013-T-C,17,43093013,rs377475866,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser840Gly,p.Ser840Gly,c.2518A>G,missense_variant,Conflicting interpretations of pathogenicity,187463,,8,1613818,0.000004957188480981127,0,0,afr,0.00005276999999999998,7.25,0.251,0.00,0.00,-1.22,0.0700,0.0210,8,74948,0,0,0,60000,0,0,0,29596,0,0,0,44884,0,0,0,63912,0,0,0,6084,0,0,0,1179926,0,0,0,912,0,0,0,91080,0,0,0,62476,0,0 +17-43093013-T-A,17,43093013,rs377475866,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser840Cys,p.Ser840Cys,c.2518A>T,missense_variant,Conflicting interpretations of pathogenicity,89056,,14,1461572,0.000009578727561830687,0,0,nfe,0.00000731,18.3,0.427,0.00,0.00,-1.22,0.0300,0.886,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39684,0,0,0,53284,0,0,0,5768,0,0,14,1111882,0,0,,,,,0,86242,0,0,0,60384,0,0 +17-43093018-T-G,17,43093018,rs564375670,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn838Thr,p.Asn838Thr,c.2513A>C,missense_variant,,,,1,152342,0.000006564177967993068,0,0,,,14.2,0.424,0.00,0.00,0.563,,,1,41588,0,0,0,15296,0,0,0,3470,0,0,0,5190,0,0,0,10624,0,0,0,294,0,0,0,68030,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 +17-43093020-A-G,17,43093020,rs2154373446,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Val,p.Val837Val,c.2511T>C,synonymous_variant,,,,1,1461626,6.84169548160747e-7,0,0,,,4.46,,0.00,0.0100,1.37,,,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39690,0,0,0,53284,0,0,0,5768,0,0,0,1111924,0,0,,,,,1,86246,0,0,0,60386,0,0 +17-43093020-A-C,17,43093020,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Val,p.Val837Val,c.2511T>G,synonymous_variant,,,,2,1461626,0.000001368339096321494,0,0,nfe,2.999999999999999e-7,4.11,,0.00,0.0100,1.37,,,0,33478,0,0,0,44722,0,0,0,26128,0,0,0,39690,0,0,0,53284,0,0,0,5768,0,0,2,1111924,0,0,,,,,0,86246,0,0,0,60386,0,0 +17-43093021-A-T,17,43093021,rs2154373500,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val837Asp,p.Val837Asp,c.2510T>A,missense_variant,Conflicting interpretations of pathogenicity,2075020,,4,1461626,0.000002736678192642988,0,0,nfe,7.200000000000001e-7,6.09,0.477,0.00,0.0200,-0.144,0.190,0.0290,0,33476,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53288,0,0,0,5768,0,0,3,1111922,0,0,,,,,1,86248,0,0,0,60386,0,0 +17-43093022-C-T,17,43093022,rs2053747957,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val837Ile,p.Val837Ile,c.2509G>A,missense_variant,,,,1,152210,0.000006569870573549701,0,0,,,1.82,0.337,0.00,0.00,0.601,,,0,41458,0,0,0,15264,0,0,0,3472,0,0,0,5198,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 +17-43093023-T-C,17,43093023,rs2154373602,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu836Glu,p.Glu836Glu,c.2508A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,1.01,,0.00,0.00,-2.24,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093025-C-T,17,43093025,rs2154373739,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu836Lys,p.Glu836Lys,c.2506G>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.02,0.517,0.00,0.00,0.375,0.210,0.392,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093027-T-C,17,43093027,rs765157365,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His835Arg,p.His835Arg,c.2504A>G,missense_variant,Conflicting interpretations of pathogenicity,2001791,,4,1461658,0.000002736618278694469,0,0,nfe,7.200000000000001e-7,0.00100,0.344,0.00,0.00,-4.18,0.460,0.00700,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39688,0,0,0,53282,0,0,0,5768,0,0,3,1111954,0,0,,,,,1,86250,0,0,0,60388,0,0 +17-43093028-G-A,17,43093028,rs751656678,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His835Tyr,p.His835Tyr,c.2503C>T,missense_variant,Conflicting interpretations of pathogenicity,441498,,9,1613714,0.000005577196454886058,0,0,nfe,0.00000183,0.00800,0.420,0.00,0.00,-2.06,1.00,0.0380,1,74890,0,0,0,59968,0,0,0,29594,0,0,0,44886,0,0,1,63864,0,0,0,6084,0,0,6,1179960,0,0,0,910,0,0,1,91076,0,0,0,62482,0,0 +17-43093030-C-T,17,43093030,rs757383244,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly834Glu,p.Gly834Glu,c.2501G>A,missense_variant,Conflicting interpretations of pathogenicity,462587,,11,1613830,0.000006816083478433292,0,0,sas,0.000051369999999999984,8.64,0.363,0.00,0.0100,1.03,0.0400,0.216,0,74940,0,0,0,59990,0,0,0,29596,0,0,0,44890,0,0,0,63868,0,0,0,6084,0,0,1,1179986,0,0,0,912,0,0,9,91082,0,0,1,62482,0,0 +17-43093031-C-G,17,43093031,rs786202215,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly834Arg,p.Gly834Arg,c.2500G>C,missense_variant,Conflicting interpretations of pathogenicity,185491,,7,1613738,0.000004337754951547277,0,0,amr,0.00004284999999999998,0.593,0.346,0.00,0.0100,0.623,1.00,0.00100,0,74906,0,0,6,59980,0,0,0,29594,0,0,0,44880,0,0,0,63838,0,0,0,6084,0,0,1,1179986,0,0,0,912,0,0,0,91080,0,0,0,62478,0,0 +17-43093031-C-T,17,43093031,rs786202215,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly834Arg,p.Gly834Arg,c.2500G>A,missense_variant,,,,3,1461606,0.0000020525367301447858,0,0,nfe,7.200000000000001e-7,0.730,0.346,0.00,0.00,0.623,1.00,0.00100,0,33476,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53236,0,0,0,5768,0,0,3,1111952,0,0,,,,,0,86248,0,0,0,60388,0,0 +17-43093034-A-G,17,43093034,rs887578121,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu833Leu,p.Leu833Leu,c.2497T>C,synonymous_variant,Likely benign,415591,,5,1613792,0.000003098292716781345,0,0,nfe,7.899999999999998e-7,0.243,,0.00,0.00,-1.69,,,1,74934,0,0,0,59990,0,0,0,29594,0,0,0,44888,0,0,0,63858,0,0,0,6084,0,0,4,1179992,0,0,0,912,0,0,0,91068,0,0,0,62472,0,0 +17-43093035-T-A,17,43093035,rs767666029,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro832Pro,p.Pro832Pro,c.2496A>T,synonymous_variant,Likely benign,220539,,6,780776,0.000007684662438394623,0,0,afr,0.00003267,0.249,,0.00,0.0100,-2.79,,,5,59166,0,0,0,59012,0,0,0,24444,0,0,0,41264,0,0,0,63600,0,0,0,4464,0,0,0,418102,0,0,0,912,0,0,0,74626,0,0,1,35186,0,0 +17-43093039-T-C,17,43093039,rs750645074,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr831Cys,p.Tyr831Cys,c.2492A>G,missense_variant,,,,2,1461622,0.0000013683428410355072,0,0,nfe,2.999999999999999e-7,17.4,0.514,0.00,0.00,0.509,0.0200,0.852,0,33478,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53238,0,0,0,5768,0,0,2,1111964,0,0,,,,,0,86246,0,0,0,60390,0,0 +17-43093045-AAGC-A,17,43093045,rs80358331,AAGC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly828_Phe829delinsVal,p.Gly828_Phe829delinsVal,c.2483_2485del,inframe_deletion,Conflicting interpretations of pathogenicity,54582,,2,780666,0.0000025619150827626666,0,0,,,2.07,,0.00,0.0100,-0.412,,,0,59134,0,0,0,59002,0,0,0,24448,0,0,0,41258,0,0,0,63562,0,0,0,4464,0,0,2,418078,0,0,0,912,0,0,0,74626,0,0,0,35182,0,0 +17-43093046-A-G,17,43093046,rs2154374989,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe829Leu,p.Phe829Leu,c.2485T>C,missense_variant,,,,1,1461640,6.841629949919269e-7,0,0,,,6.25,0.449,0.00,0.0100,-0.567,0.240,0.0290,0,33478,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53234,0,0,1,5768,0,0,0,1111968,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093049-C-T,17,43093049,rs80357185,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly828Ser,p.Gly828Ser,c.2482G>A,missense_variant,Conflicting interpretations of pathogenicity,54581,,1,833108,0.0000012003245677631232,0,0,,,5.52,0.558,0.00,0.00,-0.238,0.170,0.604,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093050-T-C,17,43093050,rs397508970,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu827Glu,p.Glu827Glu,c.2481A>G,synonymous_variant,Conflicting interpretations of pathogenicity,491046,,1,152214,0.0000065696979252893955,0,0,,,0.559,,0.00,0.00,0.0510,,,0,41466,0,0,0,15270,0,0,0,3470,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43093050-T-G,17,43093050,rs397508970,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu827Asp,p.Glu827Asp,c.2481A>C,missense_variant,Conflicting interpretations of pathogenicity,54580,,2,628500,0.0000031821797931583135,0,0,eas,0.00000919,5.54,0.533,0.00,0.0100,0.0510,0.0400,0.330,0,17692,0,0,0,43740,0,0,0,20976,0,0,2,36060,0,0,0,52930,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093053-T-C,17,43093053,rs2154375353,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr826Thr,p.Thr826Thr,c.2478A>G,synonymous_variant,,,,2,1461590,0.0000013683727994854918,0,0,nfe,2.999999999999999e-7,1.61,,0.00,0.0100,-0.157,,,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,2,1111968,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43093053-T-G,17,43093053,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr826Thr,p.Thr826Thr,c.2478A>C,synonymous_variant,,,,1,1461590,6.841863997427459e-7,0,0,,,1.39,,0.00,0.0100,-0.157,,,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53188,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43093054-G-T,17,43093054,rs28897683,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr826Lys,p.Thr826Lys,c.2477C>A,missense_variant,Benign,37473,,550,1613812,0.00034080797515447897,1,0,nfe,0.00039583,14.8,0.548,0.00,0.00,0.974,0.0600,0.968,7,75026,0,0,10,60010,0,0,0,29594,0,0,0,44878,0,0,1,63762,0,0,3,6062,0,0,504,1179988,1,0,0,912,0,0,1,91072,0,0,24,62508,0,0 +17-43093055-TG-T,17,43093055,rs80357970,TG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp825GlufsTer21,p.Asp825GlufsTer21,c.2475del,frameshift_variant,Pathogenic,37472,lof_flag,18,1613794,0.0000111538399572684,0,0,nfe,0.00000953,21.6,,0.00,0.0100,-0.231,,,0,74934,0,0,0,59994,0,0,0,29600,0,0,0,44892,0,0,0,63800,0,0,0,6084,0,0,18,1180012,0,0,0,912,0,0,0,91084,0,0,0,62482,0,0 +17-43093058-C-A,17,43093058,rs80357328,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp825Tyr,p.Asp825Tyr,c.2473G>T,missense_variant,Conflicting interpretations of pathogenicity,54575,,12,1613716,0.00000743625272352756,0,0,nfe,0.00000542,6.07,0.419,0.00,0.00,-0.00300,0.0200,0.385,0,74924,0,0,0,59998,0,0,0,29598,0,0,0,44888,0,0,0,63758,0,0,0,6084,0,0,12,1180004,0,0,0,910,0,0,0,91066,0,0,0,62486,0,0 +17-43093058-C-G,17,43093058,rs80357328,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp825His,p.Asp825His,c.2473G>C,missense_variant,,,,1,1461544,6.842079335278308e-7,0,0,,,16.1,0.425,0.00,0.00,-0.00300,0.0300,0.930,0,33478,0,0,0,44724,0,0,1,26126,0,0,0,39690,0,0,0,53152,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86240,0,0,0,60394,0,0 +17-43093060-T-A,17,43093060,rs1485586275,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn824Ile,p.Asn824Ile,c.2471A>T,missense_variant,Conflicting interpretations of pathogenicity,963966,,1,628450,0.0000015912164850027847,0,0,,,21.7,0.326,0.00,0.00,1.58,0.00,0.992,0,17692,0,0,1,43740,0,0,0,20976,0,0,0,36062,0,0,0,52880,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093060-T-C,17,43093060,rs1485586275,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn824Ser,p.Asn824Ser,c.2471A>G,missense_variant,Conflicting interpretations of pathogenicity,481488,,3,628450,0.000004773649455008354,0,0,nfe,0.00000228,7.41,0.171,0.00,0.00,1.58,0.410,0.531,0,17692,0,0,0,43740,0,0,0,20976,0,0,0,36062,0,0,0,52880,0,0,0,4148,0,0,3,350066,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093063-C-T,17,43093063,rs876659731,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg823Lys,p.Arg823Lys,c.2468G>A,missense_variant,Conflicting interpretations of pathogenicity,1446321,,1,628422,0.0000015912873833188526,0,0,,,8.78,0.453,0.00,0.00,2.23,0.440,0.0740,0,17688,0,0,0,43740,0,0,0,20974,0,0,0,36062,0,0,0,52860,0,0,0,4148,0,0,0,350062,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43093063-C-A,17,43093063,rs876659731,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg823Ile,p.Arg823Ile,c.2468G>T,missense_variant,Conflicting interpretations of pathogenicity,232385,,1,152170,0.0000065715975553657095,0,0,,,21.4,0.409,0.00,0.00,2.23,0.0400,0.936,1,41450,0,0,0,15262,0,0,0,3470,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4832,0,0,0,2086,0,0 +17-43093064-T-C,17,43093064,rs758180755,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg823Gly,p.Arg823Gly,c.2467A>G,missense_variant,,,,1,628424,0.0000015912823189438977,0,0,,,4.38,0.426,0.00,0.00,0.410,0.520,0.0200,0,17690,0,0,0,43740,0,0,0,20976,0,0,0,36060,0,0,0,52860,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093065-A-C,17,43093065,rs1064794701,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Lys,p.Asn822Lys,c.2466T>G,missense_variant,Conflicting interpretations of pathogenicity,420787,,1,1461524,6.842172964658808e-7,0,0,,,14.1,0.214,0.00,0.00,-0.0270,0.00,0.00300,0,33476,0,0,0,44724,0,0,0,26128,0,0,0,39692,0,0,0,53130,0,0,0,5768,0,0,1,1111964,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43093065-A-G,17,43093065,rs1064794701,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Asn,p.Asn822Asn,c.2466T>C,synonymous_variant,Likely benign,481437,,5,1461524,0.000003421086482329404,0,0,sas,0.00000924,2.79,,0.00,0.0200,-0.0270,,,0,33476,0,0,0,44724,0,0,1,26128,0,0,0,39692,0,0,0,53130,0,0,0,5768,0,0,1,1111964,0,0,,,,,3,86250,0,0,0,60392,0,0 +17-43093066-T-A,17,43093066,rs1555589630,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn822Ile,p.Asn822Ile,c.2465A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,8.60,0.348,0.00,0.00,-0.0970,0.0800,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093069-T-A,17,43093069,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp821Val,p.Asp821Val,c.2462A>T,missense_variant,Conflicting interpretations of pathogenicity,1791648,,1,628398,0.0000015913481583327763,0,0,,,21.9,0.476,0.00,0.00,0.619,0.00,0.961,0,17692,0,0,0,43740,0,0,0,20974,0,0,1,36058,0,0,0,52832,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093073-T-C,17,43093073,rs56082113,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys820Glu,p.Lys820Glu,c.2458A>G,missense_variant,Benign,41810,,2725,1613798,0.00168856325264996,33,0,afr,0.030608,7.22,0.237,0.00,0.00,0.174,0.150,0.108,2377,75056,31,0,130,60018,2,0,2,29596,0,0,0,44880,0,0,0,63700,0,0,6,6062,0,0,60,1179990,0,0,0,912,0,0,6,91080,0,0,144,62504,0,0 +17-43093075-G-C,17,43093075,rs192655097,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser819Cys,p.Ser819Cys,c.2456C>G,missense_variant,Conflicting interpretations of pathogenicity,156187,,3,1613494,0.0000018593189686481635,0,0,,,20.9,0.474,0.00,0.00,3.93,0.00,0.410,2,75000,0,0,0,59984,0,0,0,29596,0,0,0,44866,0,0,0,63578,0,0,0,6062,0,0,1,1179934,0,0,0,912,0,0,0,91058,0,0,0,62504,0,0 +17-43093075-G-A,17,43093075,rs192655097,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser819Phe,p.Ser819Phe,c.2456C>T,missense_variant,Conflicting interpretations of pathogenicity,2131859,,1,1461358,6.842950187428406e-7,0,0,,,16.1,0.427,0.00,0.0100,3.93,0.0300,0.208,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39690,0,0,1,52982,0,0,0,5768,0,0,0,1111954,0,0,,,,,0,86244,0,0,0,60392,0,0 +17-43093076-A-AACAACCATGAATTAGTCC,17,43093076,,A,AACAACCATGAATTAGTCC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly813_Cys818dup,p.Gly813_Cys818dup,c.2437_2454dup,inframe_insertion,,,,1,628322,0.0000015915406431734047,0,0,,,8.44,,0.00,0.00,0.315,,,0,17690,0,0,0,43740,0,0,0,20974,0,0,1,36062,0,0,0,52762,0,0,0,4148,0,0,0,350060,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093079-A-C,17,43093079,rs2154376722,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys818Gly,p.Cys818Gly,c.2452T>G,missense_variant,Conflicting interpretations of pathogenicity,1791515,,1,833108,0.0000012003245677631232,0,0,,,1.43,0.434,0.00,0.00,-0.197,0.100,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093081-C-T,17,43093081,rs1060502365,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly817Asp,p.Gly817Asp,c.2450G>A,missense_variant,,,,1,1461408,6.842716065602487e-7,0,0,,,5.88,0.406,0.00,0.00,-0.432,0.190,0.232,0,33478,0,0,0,44722,0,0,0,26124,0,0,0,39692,0,0,0,53026,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43093084-T-A,17,43093084,rs80357108,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His816Leu,p.His816Leu,c.2447A>T,missense_variant,Conflicting interpretations of pathogenicity,496357,,2,1461428,0.0000013685244842715482,0,0,,,5.47,0.473,0.00,0.0200,-2.30,0.100,0.0710,0,33478,0,0,0,44724,0,0,0,26126,0,0,1,39692,0,0,0,53044,0,0,0,5768,0,0,0,1111954,0,0,,,,,1,86252,0,0,0,60390,0,0 +17-43093084-T-C,17,43093084,rs80357108,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His816Arg,p.His816Arg,c.2447A>G,missense_variant,Conflicting interpretations of pathogenicity,37470,,70,1613644,0.00004338007639851169,1,0,nfe,0.0000451,3.26,0.487,0.00,0.00,-2.30,0.130,0.117,1,74944,0,0,0,59990,0,0,0,29598,0,0,0,44896,0,0,1,63674,0,0,0,6084,0,0,66,1179982,1,0,0,912,0,0,0,91082,0,0,2,62482,0,0 +17-43093085-G-T,17,43093085,rs1597869935,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His816Asn,p.His816Asn,c.2446C>A,missense_variant,Conflicting interpretations of pathogenicity,1023503,,1,1461386,6.842819077232162e-7,0,0,,,10.6,0.346,0.00,0.00,0.568,0.0600,0.0710,0,33478,0,0,0,44724,0,0,0,26126,0,0,0,39692,0,0,0,53000,0,0,0,5768,0,0,1,1111958,0,0,,,,,0,86248,0,0,0,60392,0,0 +17-43093091-G-A,17,43093091,rs786202054,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu814Leu,p.Leu814Leu,c.2440C>T,synonymous_variant,Likely benign,185284,,5,1461338,0.0000034215219203223347,0,0,nfe,0.0000013199999999999999,3.00,,0.00,0.00,1.20,,,0,33478,0,0,0,44724,0,0,0,26124,0,0,0,39692,0,0,0,52976,0,0,0,5768,0,0,5,1111940,0,0,,,,,0,86246,0,0,0,60390,0,0 +17-43093097-TG-T,17,43093097,rs80357524,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys812ArgfsTer3,p.Lys812ArgfsTer3,c.2433del,frameshift_variant,Pathogenic,37469,lof_flag,4,628262,0.000006366770551139493,0,0,amr,0.00001819,20.4,,0.00,0.0200,0.756,,,0,17688,0,0,3,43740,0,0,0,20972,0,0,1,36058,0,0,0,52736,0,0,0,4148,0,0,0,350038,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43093101-G-A,17,43093101,rs1459103756,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn810Asn,p.Asn810Asn,c.2430C>T,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,1.16,,0.00,0.00,0.478,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27296,0,0 +17-43093103-T-A,17,43093103,rs28897682,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn810Tyr,p.Asn810Tyr,c.2428A>T,missense_variant,Benign,54567,,189,1613522,0.00011713506230469742,0,0,nfe,0.00012665,22.6,0.462,0.00,0.00,1.83,0.00,0.992,2,74912,0,0,7,59980,0,0,0,29598,0,0,0,44892,0,0,0,63610,0,0,0,6084,0,0,171,1179980,0,0,0,912,0,0,0,91074,0,0,9,62480,0,0 +17-43093105-T-C,17,43093105,rs397507201,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu809Gly,p.Glu809Gly,c.2426A>G,missense_variant,Conflicting interpretations of pathogenicity,37468,,46,1613550,0.000028508568064206252,0,0,sas,0.00034053,15.3,0.392,0.00,0.00,0.636,0.100,0.0970,0,74922,0,0,0,59990,0,0,0,29594,0,0,0,44892,0,0,0,63626,0,0,0,6084,0,0,0,1179970,0,0,0,912,0,0,41,91074,0,0,5,62486,0,0 +17-43093105-T-G,17,43093105,rs397507201,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu809Ala,p.Glu809Ala,c.2426A>C,missense_variant,Conflicting interpretations of pathogenicity,1719414,,1,1461352,6.84297828312412e-7,0,0,,,18.5,0.492,0.00,0.00,0.636,0.130,0.457,1,33472,0,0,0,44724,0,0,0,26124,0,0,0,39690,0,0,0,53002,0,0,0,5768,0,0,0,1111934,0,0,,,,,0,86244,0,0,0,60394,0,0 +17-43093106-C-T,17,43093106,rs786204151,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu809Lys,p.Glu809Lys,c.2425G>A,missense_variant,Conflicting interpretations of pathogenicity,188213,,2,780358,0.0000025629262466713996,0,0,,,11.5,0.481,0.00,0.00,1.95,0.100,0.219,0,59122,0,0,0,59006,0,0,0,24442,0,0,1,41254,0,0,0,63312,0,0,0,4464,0,0,1,418056,0,0,0,912,0,0,0,74600,0,0,0,35190,0,0 +17-43093110-T-C,17,43093110,rs772960140,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Ala,p.Ala807Ala,c.2421A>G,synonymous_variant,Likely benign,184951,,1,833110,0.0000012003216862119048,0,0,,,3.13,,0.00,0.00,-0.887,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093111-G-A,17,43093111,rs273899683,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Val,p.Ala807Val,c.2420C>T,missense_variant,,,,1,628202,0.000001591844661430559,0,0,,,15.7,0.612,0.00,0.0100,1.87,0.0800,0.893,0,17690,0,0,0,43734,0,0,0,20968,0,0,0,36060,0,0,0,52720,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69774,0,0,0,33092,0,0 +17-43093112-C-T,17,43093112,rs80357240,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Thr,p.Ala807Thr,c.2419G>A,missense_variant,Conflicting interpretations of pathogenicity,821253,,3,1461352,0.0000020528934849372364,0,0,eas,0.00000835,8.34,0.562,0.00,0.00,2.81,0.0900,0.893,0,33476,0,0,0,44720,0,0,0,26128,0,0,2,39690,0,0,0,53016,0,0,1,5768,0,0,0,1111934,0,0,,,,,0,86230,0,0,0,60390,0,0 +17-43093112-C-A,17,43093112,rs80357240,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala807Ser,p.Ala807Ser,c.2419G>T,missense_variant,Conflicting interpretations of pathogenicity,54564,,4,1461352,0.000002737191313249648,0,0,afr,0.00000989,16.5,0.545,0.00,0.0100,2.81,0.0100,0.980,2,33476,0,0,0,44720,0,0,0,26128,0,0,0,39690,0,0,0,53016,0,0,0,5768,0,0,2,1111934,0,0,,,,,0,86230,0,0,0,60390,0,0 +17-43093115-C-T,17,43093115,rs80357144,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala806Thr,p.Ala806Thr,c.2416G>A,missense_variant,Conflicting interpretations of pathogenicity,54563,,13,1461296,0.0000088962126769662,0,0,nfe,0.00000652,0.270,0.406,0.00,0.00,0.0650,0.500,0.0740,0,33472,0,0,0,44708,0,0,0,26120,0,0,0,39688,0,0,0,53036,0,0,0,5768,0,0,13,1111894,0,0,,,,,0,86224,0,0,0,60386,0,0 +17-43093117-C-T,17,43093117,rs1060502352,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys805Tyr,p.Cys805Tyr,c.2414G>A,missense_variant,Conflicting interpretations of pathogenicity,409350,,1,833108,0.0000012003245677631232,0,0,,,2.39,0.349,0.00,0.00,0.559,0.720,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093117-C-A,17,43093117,rs1060502352,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys805Phe,p.Cys805Phe,c.2414G>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,3.10,0.291,0.00,0.00,0.559,0.580,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093118-ACT-A,17,43093118,rs80357664,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804LeufsTer5,p.Gln804LeufsTer5,c.2411_2412del,frameshift_variant,Pathogenic,37466,lof_flag,4,628212,0.000006367277288558639,0,0,nfe,0.0000036699999999999996,22.4,,0.00,0.0300,0.167,,,0,17688,0,0,0,43726,0,0,0,20966,0,0,0,36058,0,0,0,52782,0,0,0,4148,0,0,4,349992,0,0,,,,,0,69766,0,0,0,33086,0,0 +17-43093119-C-G,17,43093119,rs55746541,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln804His,p.Gln804His,c.2412G>C,missense_variant,Benign,54561,,101,1613486,0.00006259738231382238,0,0,nfe,0.0000571,4.96,0.433,0.00,0.00,0.328,0.140,0.285,2,74914,0,0,0,59982,0,0,0,29596,0,0,0,44894,0,0,0,63660,0,0,1,6084,0,0,82,1179916,0,0,0,912,0,0,6,91054,0,0,10,62474,0,0 +17-43093119-C-T,17,43093119,rs55746541,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804Gln,p.Gln804Gln,c.2412G>A,synonymous_variant,Likely benign,184501,,2,1461310,0.0000013686349918908378,0,0,nfe,2.999999999999999e-7,0.725,,0.00,0.00,0.328,,,0,33476,0,0,0,44712,0,0,0,26124,0,0,0,39688,0,0,0,53042,0,0,0,5768,0,0,2,1111894,0,0,,,,,0,86224,0,0,0,60382,0,0 +17-43093120-T-C,17,43093120,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804Arg,p.Gln804Arg,c.2411A>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,20.4,0.485,0.00,0.00,2.25,0.0800,0.821,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093121-GA-G,17,43093121,rs770460699,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln804SerfsTer11,p.Gln804SerfsTer11,c.2409del,frameshift_variant,Pathogenic,254412,lof_flag,1,628180,0.000001591900410710306,0,0,,,15.6,,0.00,0.0100,2.71,,,0,17690,0,0,0,43726,0,0,0,20972,0,0,0,36058,0,0,0,52756,0,0,0,4148,0,0,0,349998,0,0,,,,,1,69742,0,0,0,33090,0,0 +17-43093124-T-C,17,43093124,rs2053766204,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser803Gly,p.Ser803Gly,c.2407A>G,missense_variant,Conflicting interpretations of pathogenicity,945299,,1,628278,0.0000015916521030499239,0,0,,,6.45,0.367,0.00,0.0100,0.255,0.130,0.0150,0,17690,0,0,0,43726,0,0,0,20968,0,0,1,36058,0,0,0,52828,0,0,0,4148,0,0,0,350004,0,0,,,,,0,69766,0,0,0,33090,0,0 +17-43093124-TCA-T,17,43093124,rs80357706,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val802GlufsTer7,p.Val802GlufsTer7,c.2405_2406del,frameshift_variant,Pathogenic,54558,lof_flag,3,628278,0.000004774956309149771,0,0,sas,0.00001142,14.1,,0.00,0.0200,0.255,,,0,17690,0,0,0,43726,0,0,0,20968,0,0,0,36058,0,0,0,52828,0,0,0,4148,0,0,0,350004,0,0,,,,,3,69766,0,0,0,33090,0,0 +17-43093127-C-A,17,43093127,rs876660885,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val802Leu,p.Val802Leu,c.2404G>T,missense_variant,Conflicting interpretations of pathogenicity,234150,,1,152154,0.000006572288602337106,0,0,,,0.475,0.331,0.00,0.00,-0.242,0.200,0.00700,0,41434,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4828,0,0,0,2086,0,0 +17-43093127-C-G,17,43093127,rs876660885,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val802Leu,p.Val802Leu,c.2404G>C,missense_variant,Conflicting interpretations of pathogenicity,481483,,1,152154,0.000006572288602337106,0,0,,,0.515,0.331,0.00,0.00,-0.242,0.200,0.00700,0,41434,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,1,2086,0,0 +17-43093128-A-G,17,43093128,rs80357381,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Cys,p.Cys801Cys,c.2403T>C,synonymous_variant,Likely benign,1561159,,1,1461334,6.843062571595542e-7,0,0,,,3.45,,0.00,0.00,0.224,,,1,33474,0,0,0,44706,0,0,0,26114,0,0,0,39686,0,0,0,53118,0,0,0,5768,0,0,0,1111868,0,0,,,,,0,86218,0,0,0,60382,0,0 +17-43093128-A-C,17,43093128,rs80357381,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Trp,p.Cys801Trp,c.2403T>G,missense_variant,Conflicting interpretations of pathogenicity,439440,,1,1461334,6.843062571595542e-7,0,0,,,11.2,0.426,0.0200,0.0300,0.224,0.190,0.971,0,33474,0,0,0,44706,0,0,0,26114,0,0,0,39686,0,0,0,53118,0,0,0,5768,0,0,1,1111868,0,0,,,,,0,86218,0,0,0,60382,0,0 +17-43093129-C-T,17,43093129,rs1567795821,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Tyr,p.Cys801Tyr,c.2402G>A,missense_variant,Conflicting interpretations of pathogenicity,581709,,2,1461328,0.0000013686181336428236,0,0,,,0.0590,0.427,0.00,0.00,-1.05,1.00,0.411,1,33470,0,0,0,44712,0,0,0,26112,0,0,0,39688,0,0,1,53100,0,0,0,5768,0,0,0,1111870,0,0,,,,,0,86224,0,0,0,60384,0,0 +17-43093129-C-A,17,43093129,rs1567795821,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys801Phe,p.Cys801Phe,c.2402G>T,missense_variant,Conflicting interpretations of pathogenicity,923426,,9,1461328,0.0000061587816013927055,0,0,nfe,0.00000381,0.202,0.483,0.00,0.00,-1.05,0.700,0.862,0,33470,0,0,0,44712,0,0,0,26112,0,0,0,39688,0,0,0,53100,0,0,0,5768,0,0,9,1111870,0,0,,,,,0,86224,0,0,0,60384,0,0 +17-43093134-A-T,17,43093134,rs80357203,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn799Lys,p.Asn799Lys,c.2397T>A,missense_variant,Conflicting interpretations of pathogenicity,54556,,4,1461358,0.0000027371800749713623,0,0,nfe,8.4e-7,12.1,0.349,0.00,0.00,-0.574,0.0600,0.444,0,33474,0,0,0,44702,0,0,0,26114,0,0,0,39686,0,0,0,53170,0,0,0,5766,0,0,4,1111844,0,0,,,,,0,86224,0,0,0,60378,0,0 +17-43093135-T-C,17,43093135,rs587782027,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn799Ser,p.Asn799Ser,c.2396A>G,missense_variant,Conflicting interpretations of pathogenicity,141806,,1,628222,0.0000015917939836554593,0,0,,,2.08,0.284,0.00,0.00,-0.219,0.410,0.348,0,17686,0,0,0,43724,0,0,0,20962,0,0,0,36058,0,0,0,52878,0,0,0,4148,0,0,1,349926,0,0,,,,,0,69758,0,0,0,33082,0,0 +17-43093138-G-A,17,43093138,rs876660005,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro798Leu,p.Pro798Leu,c.2393C>T,missense_variant,Conflicting interpretations of pathogenicity,232813,,15,1613282,0.000009297816500772958,0,0,nfe,0.000006890000000000001,1.89,0.344,0.00,0.00,1.57,0.0500,0.0580,0,74858,0,0,0,59928,0,0,0,29578,0,0,0,44882,0,0,0,63740,0,0,0,6080,0,0,14,1179818,0,0,0,912,0,0,0,91026,0,0,1,62460,0,0 +17-43093139-G-A,17,43093139,rs398122658,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro798Ser,p.Pro798Ser,c.2392C>T,missense_variant,Conflicting interpretations of pathogenicity,91587,,5,1613360,0.000003099122328556553,0,0,afr,0.00001747,1.41,0.431,0.00,0.00,-0.152,0.570,0.0350,4,74864,0,0,0,59944,0,0,0,29588,0,0,0,44886,0,0,0,63728,0,0,0,6080,0,0,1,1179844,0,0,0,912,0,0,0,91040,0,0,0,62474,0,0 +17-43093139-G-C,17,43093139,rs398122658,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro798Ala,p.Pro798Ala,c.2392C>G,missense_variant,Likely benign,599042,,2,1461318,0.0000013686274992848921,0,0,nfe,2.999999999999999e-7,2.16,0.349,0.00,0.00,-0.152,0.220,0.0580,0,33472,0,0,0,44704,0,0,0,26116,0,0,0,39688,0,0,0,53134,0,0,0,5764,0,0,2,1111838,0,0,,,,,0,86222,0,0,0,60380,0,0 +17-43093140-T-G,17,43093140,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Asp,p.Glu797Asp,c.2391A>C,missense_variant,,,,1,1461382,6.842837806952597e-7,0,0,,,15.2,0.279,0.00,0.00,0.318,0.00,0.348,0,33474,0,0,0,44712,0,0,0,26116,0,0,0,39686,0,0,0,53178,0,0,0,5764,0,0,0,1111842,0,0,,,,,1,86230,0,0,0,60380,0,0 +17-43093140-TTC-T,17,43093140,rs80357695,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797ThrfsTer3,p.Glu797ThrfsTer3,c.2389_2390del,frameshift_variant,Pathogenic,54552,lof_flag,5,1461382,0.0000034214189034762985,0,0,eas,0.00004907999999999998,18.8,,0.00,0.0200,0.318,,,0,33474,0,0,0,44712,0,0,0,26116,0,0,5,39686,0,0,0,53178,0,0,0,5764,0,0,0,1111842,0,0,,,,,0,86230,0,0,0,60380,0,0 +17-43093142-C-T,17,43093142,rs62625306,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Lys,p.Glu797Lys,c.2389G>A,missense_variant,Likely benign,91586,,2,1461322,0.000001368623753012683,0,0,nfe,2.999999999999999e-7,14.6,0.281,0.00,0.00,0.509,0.00,0.193,0,33472,0,0,0,44706,0,0,0,26112,0,0,0,39680,0,0,0,53160,0,0,0,5768,0,0,2,1111818,0,0,,,,,0,86226,0,0,0,60380,0,0 +17-43093142-C-A,17,43093142,rs62625306,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu797Ter,p.Glu797Ter,c.2389G>T,stop_gained,Pathogenic,17682,lof_flag,1,1461322,6.843118765063415e-7,0,0,,,32.0,,0.00,0.0300,0.509,,,0,33472,0,0,0,44706,0,0,0,26112,0,0,0,39680,0,0,0,53160,0,0,0,5768,0,0,1,1111818,0,0,,,,,0,86226,0,0,0,60380,0,0 +17-43093144-G-C,17,43093144,rs80357364,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796Arg,p.Thr796Arg,c.2387C>G,missense_variant,Conflicting interpretations of pathogenicity,496355,,1,1461336,6.843053206107288e-7,0,0,,,15.8,0.469,0.00,0.00,1.09,0.160,0.887,0,33472,0,0,0,44708,0,0,0,26118,0,0,0,39686,0,0,0,53150,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 +17-43093144-GT-G,17,43093144,rs398122657,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796GlnfsTer7,p.Thr796GlnfsTer7,c.2386del,frameshift_variant,Pathogenic,662411,lof_flag,1,1461336,6.843053206107288e-7,0,0,,,22.8,,0.00,0.0100,1.09,,,0,33472,0,0,0,44708,0,0,0,26118,0,0,0,39686,0,0,0,53150,0,0,0,5766,0,0,1,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 +17-43093144-G-A,17,43093144,rs80357364,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr796Ile,p.Thr796Ile,c.2387C>T,missense_variant,Conflicting interpretations of pathogenicity,54551,,16,1461336,0.000010948885129771661,0,0,eas,0.0002525300000000002,14.8,0.510,0.00,0.00,1.09,0.0200,0.838,0,33472,0,0,0,44708,0,0,0,26118,0,0,16,39686,0,0,0,53150,0,0,0,5766,0,0,0,1111820,0,0,,,,,0,86230,0,0,0,60386,0,0 +17-43093146-T-A,17,43093146,rs2154380521,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys795Asn,p.Lys795Asn,c.2385A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.8,0.392,0.00,0.00,1.57,0.0200,0.854,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093149-T-C,17,43093149,rs2053770720,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala794Ala,p.Ala794Ala,c.2382A>G,synonymous_variant,Likely benign,2000079,,1,152202,0.000006570215897294385,0,0,,,5.35,,0.00,0.00,0.510,,,0,41448,0,0,0,15270,0,0,0,3466,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43093150-G-A,17,43093150,rs7502059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala794Val,p.Ala794Val,c.2381C>T,missense_variant,Conflicting interpretations of pathogenicity,233404,,3,1461308,0.0000020529552975827134,0,0,,,17.1,0.523,0.0100,0.0100,2.33,0.100,0.838,0,33468,0,0,0,44684,0,0,0,26120,0,0,1,39686,0,0,0,53174,0,0,0,5766,0,0,1,1111822,0,0,,,,,0,86208,0,0,1,60380,0,0 +17-43093155-C-T,17,43093155,rs1490530545,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly792Gly,p.Gly792Gly,c.2376G>A,synonymous_variant,Likely benign,761448,,4,1613672,0.0000024788184959520893,0,0,sas,0.00000875,2.57,,0.00,0.00,-0.214,,,0,74996,0,0,0,59996,0,0,0,29590,0,0,0,44874,0,0,0,63806,0,0,0,6060,0,0,0,1179884,0,0,0,912,0,0,3,91058,0,0,1,62496,0,0 +17-43093157-C-G,17,43093157,rs1555589778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly792Arg,p.Gly792Arg,c.2374G>C,missense_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,0.00700,0.370,0.0100,0.0100,0.175,1.00,0.0230,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093159-A-C,17,43093159,rs774730386,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Arg,p.Leu791Arg,c.2372T>G,missense_variant,Conflicting interpretations of pathogenicity,821176,,1,1461494,6.842313413534369e-7,0,0,,,5.96,0.449,0.00,0.00,0.0200,0.430,0.285,0,33474,0,0,1,44722,0,0,0,26120,0,0,0,39688,0,0,0,53236,0,0,0,5768,0,0,0,1111872,0,0,,,,,0,86232,0,0,0,60382,0,0 +17-43093159-A-G,17,43093159,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Pro,p.Leu791Pro,c.2372T>C,missense_variant,,,,4,1461494,0.0000027369253654137476,0,0,nfe,8.4e-7,5.15,0.367,0.00,0.00,0.0200,0.390,0.0290,0,33474,0,0,0,44722,0,0,0,26120,0,0,0,39688,0,0,0,53236,0,0,0,5768,0,0,4,1111872,0,0,,,,,0,86232,0,0,0,60382,0,0 +17-43093160-G-C,17,43093160,rs1567795916,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu791Val,p.Leu791Val,c.2371C>G,missense_variant,Conflicting interpretations of pathogenicity,629997,,1,833110,0.0000012003216862119048,0,0,,,0.166,0.362,0.00,0.00,0.187,0.620,0.141,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093162-G-A,17,43093162,rs2154381160,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr790Ile,p.Thr790Ile,c.2369C>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,12.1,0.449,0.00,0.00,0.952,0.0400,0.838,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093163-T-C,17,43093163,rs41286298,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr790Ala,p.Thr790Ala,c.2368A>G,missense_variant,Conflicting interpretations of pathogenicity,37465,,113,1613726,0.00007002427921468701,0,0,afr,0.0011214699999999998,8.76,0.504,0.00,0.00,0.318,0.0500,0.759,100,75000,0,0,3,60004,0,0,0,29588,0,0,0,44872,0,0,0,63850,0,0,0,6062,0,0,0,1179892,0,0,0,912,0,0,0,91058,0,0,10,62488,0,0 +17-43093166-T-C,17,43093166,rs2053773104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser789Gly,p.Ser789Gly,c.2365A>G,missense_variant,Conflicting interpretations of pathogenicity,845101,,2,1461528,0.0000013684308477155415,0,0,nfe,2.999999999999999e-7,4.03,0.249,0.00,0.00,0.381,0.150,0.0100,0,33470,0,0,0,44718,0,0,0,26120,0,0,0,39688,0,0,0,53248,0,0,0,5768,0,0,2,1111898,0,0,,,,,0,86236,0,0,0,60382,0,0 +17-43093169-C-T,17,43093169,rs80357060,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val788Ile,p.Val788Ile,c.2362G>A,missense_variant,Conflicting interpretations of pathogenicity,54550,,7,1613662,0.000004337959250450218,0,0,nfe,0.00000247,8.74,0.309,0.00,0.00,1.49,0.0500,0.0620,0,74902,0,0,0,59968,0,0,0,29584,0,0,0,44890,0,0,0,63878,0,0,0,6084,0,0,7,1179922,0,0,0,912,0,0,0,91050,0,0,0,62472,0,0 +17-43093170-T-C,17,43093170,rs750594744,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu787Glu,p.Glu787Glu,c.2361A>G,synonymous_variant,,,,1,628444,0.0000015912316769672397,0,0,,,0.470,,0.00,0.0100,-0.243,,,0,17688,0,0,0,43734,0,0,0,20966,0,0,0,36060,0,0,0,52986,0,0,0,4148,0,0,0,350006,0,0,,,,,1,69772,0,0,0,33084,0,0 +17-43093172-C-G,17,43093172,rs1288796003,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu787Gln,p.Glu787Gln,c.2359G>C,missense_variant,Conflicting interpretations of pathogenicity,1432111,,1,833108,0.0000012003245677631232,0,0,,,5.70,0.574,0.00,0.00,2.07,0.240,0.728,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093174-A-G,17,43093174,rs760864137,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu786Pro,p.Leu786Pro,c.2357T>C,missense_variant,Conflicting interpretations of pathogenicity,630128,,2,628506,0.0000031821494146436153,0,0,,,24.0,0.792,0.00,0.00,4.69,0.0100,0.914,0,17690,0,0,0,43736,0,0,0,20972,0,0,0,36060,0,0,1,53018,0,0,0,4148,0,0,0,350020,0,0,,,,,0,69776,0,0,1,33086,0,0 +17-43093179-C-T,17,43093179,rs372017932,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser784Ser,p.Ser784Ser,c.2352G>A,synonymous_variant,Likely benign,136543,,95,1613702,0.00005887084480281985,0,0,eas,0.00012015999999999997,1.49,,0.00,0.00,-1.64,,,1,74890,0,0,1,59976,0,0,0,29594,0,0,10,44888,0,0,1,63888,0,0,0,6084,0,0,77,1179922,0,0,0,912,0,0,2,91068,0,0,3,62480,0,0 +17-43093179-C-G,17,43093179,rs372017932,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser784Ser,p.Ser784Ser,c.2352G>C,synonymous_variant,Likely benign,799520,,1,1461570,6.841957620914496e-7,0,0,,,1.22,,0.00,0.00,-1.64,,,0,33474,0,0,0,44722,0,0,0,26124,0,0,0,39690,0,0,0,53272,0,0,0,5768,0,0,0,1111898,0,0,,,,,1,86236,0,0,0,60386,0,0 +17-43093180-G-A,17,43093180,rs55914168,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser784Leu,p.Ser784Leu,c.2351C>T,missense_variant,Benign,37464,,79,1613816,0.000048952296916129224,0,0,amr,0.0007225100000000001,23.9,0.632,0.00,0.00,6.98,0.0100,0.954,1,75010,0,0,55,59986,0,0,0,29590,0,0,2,44876,0,0,0,63902,0,0,0,6062,0,0,20,1179936,0,0,0,912,0,0,1,91042,0,0,0,62500,0,0 +17-43093183-A-T,17,43093183,rs562370358,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile783Asn,p.Ile783Asn,c.2348T>A,missense_variant,Conflicting interpretations of pathogenicity,1418291,,1,628554,0.0000015909532037024663,0,0,,,14.3,0.349,0.00,0.00,1.35,0.110,0.285,0,17690,0,0,0,43736,0,0,1,20972,0,0,0,36060,0,0,0,53040,0,0,0,4148,0,0,0,350046,0,0,,,,,0,69774,0,0,0,33088,0,0 +17-43093184-T-C,17,43093184,rs80356948,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile783Val,p.Ile783Val,c.2347A>G,missense_variant,Conflicting interpretations of pathogenicity,54541,,18,1613836,0.000011153549679149555,0,0,eas,0.00022307999999999996,0.364,0.240,0.00,0.00,-1.10,0.750,0.0230,0,74926,0,0,0,59984,0,0,0,29594,0,0,16,44886,0,0,0,63940,0,0,0,6084,0,0,0,1179972,0,0,0,912,0,0,0,91060,0,0,2,62478,0,0 +17-43093185-A-T,17,43093185,rs1555589837,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser782Arg,p.Ser782Arg,c.2346T>A,missense_variant,Conflicting interpretations of pathogenicity,496356,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,20.6,0.683,0.00,0.00,0.0740,0.00,0.998,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093187-TTTCC-T,17,43093187,rs886040026,TTTCC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781ValfsTer10,p.Glu781ValfsTer10,c.2340_2343del,frameshift_variant,Pathogenic,266251,lof_flag,1,628548,0.0000015909683906400147,0,0,,,23.8,,0.00,0.0100,4.72,,,0,17692,0,0,0,43738,0,0,0,20972,0,0,0,36060,0,0,0,53042,0,0,0,4148,0,0,0,350038,0,0,,,,,1,69766,0,0,0,33092,0,0 +17-43093187-T-C,17,43093187,rs1433746078,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser782Gly,p.Ser782Gly,c.2344A>G,missense_variant,Conflicting interpretations of pathogenicity,570674,,1,152198,0.000006570388572780194,0,0,,,22.8,0.627,0.0100,0.00,4.72,0.0100,0.919,0,41444,0,0,0,15268,0,0,0,3470,0,0,0,5198,0,0,0,10630,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43093189-T-A,17,43093189,rs587776482,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Val,p.Glu781Val,c.2342A>T,missense_variant,,,,1,1461648,6.841592503803926e-7,0,0,,,22.5,0.458,0.270,0.370,0.0120,0.00,0.348,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,0,1111950,0,0,,,,,1,86220,0,0,0,60390,0,0 +17-43093189-T-C,17,43093189,rs587776482,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Gly,p.Glu781Gly,c.2342A>G,missense_variant,,,,1,1461648,6.841592503803926e-7,0,0,,,13.6,0.390,0.00,0.00,0.0120,0.130,0.0100,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,1,1111950,0,0,,,,,0,86220,0,0,0,60390,0,0 +17-43093189-T-G,17,43093189,rs587776482,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Ala,p.Glu781Ala,c.2342A>C,missense_variant,Conflicting interpretations of pathogenicity,156186,,13,1461648,0.000008894070254945102,0,0,nfe,0.00000575,17.0,0.423,0.0200,0.0600,0.0120,0.0100,0.0380,0,33478,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53304,0,0,0,5768,0,0,12,1111950,0,0,,,,,0,86220,0,0,1,60390,0,0 +17-43093190-C-A,17,43093190,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu781Ter,p.Glu781Ter,c.2341G>T,stop_gained,Pathogenic,1789877,lof_flag,1,1461660,6.841536335399477e-7,0,0,,,35.0,,0.00,0.0100,2.17,,,0,33476,0,0,0,44722,0,0,0,26126,0,0,0,39690,0,0,0,53310,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86220,0,0,0,60392,0,0 +17-43093191-C-T,17,43093191,rs1555589856,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln780Gln,p.Gln780Gln,c.2340G>A,synonymous_variant,Likely benign,479265,,8,1461646,0.000005473281492235466,0,0,nfe,0.0000031,6.30,,0.00,0.00,3.51,,,0,33476,0,0,0,44720,0,0,0,26126,0,0,0,39690,0,0,0,53310,0,0,0,5768,0,0,8,1111950,0,0,,,,,0,86214,0,0,0,60392,0,0 +17-43093192-T-C,17,43093192,rs1410232200,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Arg,p.Gln780Arg,c.2339A>G,missense_variant,Conflicting interpretations of pathogenicity,438919,,18,1613866,0.000011153342346886296,0,0,nfe,0.00000953,25.0,0.759,0.00,0.00,3.73,0.00,0.995,0,74936,0,0,0,59982,0,0,0,29596,0,0,0,44890,0,0,0,63944,0,0,0,6084,0,0,18,1179982,0,0,0,912,0,0,0,91054,0,0,0,62486,0,0 +17-43093193-G-A,17,43093193,rs80356945,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Ter,p.Gln780Ter,c.2338C>T,stop_gained,Pathogenic,54540,lof_flag,4,1613642,0.0000024788645808673795,0,0,nfe,6.800000000000001e-7,38.0,,0.00,0.0100,5.87,,,0,74856,0,0,0,59942,0,0,0,29596,0,0,0,44892,0,0,0,63884,0,0,0,6084,0,0,3,1179964,0,0,0,912,0,0,1,91028,0,0,0,62484,0,0 +17-43093193-G-C,17,43093193,rs80356945,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln780Glu,p.Gln780Glu,c.2338C>G,missense_variant,Conflicting interpretations of pathogenicity,91584,,19,1613642,0.000011774606759120052,0,0,nfe,0.00000878,24.4,0.620,0.00,0.00,5.87,0.0200,0.836,1,74856,0,0,0,59942,0,0,0,29596,0,0,0,44892,0,0,0,63884,0,0,0,6084,0,0,17,1179964,0,0,0,912,0,0,0,91028,0,0,1,62484,0,0 +17-43093195-G-A,17,43093195,rs2154382857,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr779Ile,p.Thr779Ile,c.2336C>T,missense_variant,Conflicting interpretations of pathogenicity,1516076,,1,628554,0.0000015909532037024663,0,0,,,22.8,0.552,0.00,0.00,4.18,0.0100,0.955,0,17692,0,0,0,43732,0,0,0,20976,0,0,1,36060,0,0,0,53036,0,0,0,4148,0,0,0,350050,0,0,,,,,0,69766,0,0,0,33094,0,0 +17-43093196-T-G,17,43093196,rs1348270931,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr779Pro,p.Thr779Pro,c.2335A>C,missense_variant,Conflicting interpretations of pathogenicity,1330114,,1,628568,0.0000015909177686423745,0,0,,,23.3,0.569,0.00,0.00,1.33,0.0300,0.927,0,17692,0,0,0,43736,0,0,0,20974,0,0,0,36060,0,0,0,53042,0,0,0,4148,0,0,0,350056,0,0,,,,,1,69766,0,0,0,33094,0,0 +17-43093197-G-A,17,43093197,rs777404687,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly778Gly,p.Gly778Gly,c.2334C>T,synonymous_variant,Likely benign,427355,,4,628554,0.000006363812814809865,0,0,amr,0.000030320000000000004,5.39,,0.00,0.00,0.668,,,0,17692,0,0,4,43738,0,0,0,20976,0,0,0,36060,0,0,0,53012,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69770,0,0,0,33096,0,0 +17-43093198-C-T,17,43093198,rs730881483,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly778Asp,p.Gly778Asp,c.2333G>A,missense_variant,Conflicting interpretations of pathogenicity,182147,,5,1613720,0.0000030984309545646086,0,0,nfe,0.0000012399999999999998,8.89,0.253,0.00,0.00,0.829,0.770,0.173,0,74864,0,0,0,59962,0,0,0,29594,0,0,0,44888,0,0,0,63882,0,0,0,6084,0,0,5,1179988,0,0,0,912,0,0,0,91060,0,0,0,62486,0,0 +17-43093200-A-G,17,43093200,rs80357444,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Tyr,p.Tyr777Tyr,c.2331T>C,synonymous_variant,,,,1,833106,0.0000012003274493281767,0,0,,,5.96,,0.00,0.00,-0.0540,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093201-TA-T,17,43093201,rs80357725,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777MetfsTer15,p.Tyr777MetfsTer15,c.2329del,frameshift_variant,Pathogenic,54536,lof_flag,1,1461696,6.841367835719602e-7,0,0,,,23.2,,0.00,0.0100,-0.579,,,1,33476,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53316,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86240,0,0,0,60394,0,0 +17-43093201-T-A,17,43093201,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Phe,p.Tyr777Phe,c.2330A>T,missense_variant,Conflicting interpretations of pathogenicity,1789716,,6,1461696,0.000004104820701431761,0,0,nfe,0.00000194,20.4,0.476,0.00,0.00,-0.579,0.0700,0.992,0,33476,0,0,0,44724,0,0,0,26128,0,0,0,39690,0,0,0,53316,0,0,0,5768,0,0,6,1111960,0,0,,,,,0,86240,0,0,0,60394,0,0 +17-43093202-A-G,17,43093202,rs397507199,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777His,p.Tyr777His,c.2329T>C,missense_variant,Conflicting interpretations of pathogenicity,821108,,1,1461700,6.84134911404529e-7,0,0,,,20.3,0.499,0.00,0.00,0.491,0.0600,0.775,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53326,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86236,0,0,0,60394,0,0 +17-43093202-A-T,17,43093202,rs397507199,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr777Asn,p.Tyr777Asn,c.2329T>A,missense_variant,,,,1,1461700,6.84134911404529e-7,0,0,,,22.7,0.532,0.00,0.00,0.491,0.0300,0.775,0,33476,0,0,0,44724,0,0,0,26130,0,0,0,39690,0,0,0,53326,0,0,0,5768,0,0,0,1111956,0,0,,,,,0,86236,0,0,1,60394,0,0 +17-43093202-A-C,17,43093202,rs397507199,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr777Asp,p.Tyr777Asp,c.2329T>G,missense_variant,Conflicting interpretations of pathogenicity,37463,,5,1613880,0.0000030981237762411082,0,0,amr,0.00001327,16.4,0.514,0.00,0.00,0.491,0.100,0.678,0,74920,0,0,3,59996,0,0,0,29600,0,0,0,44888,0,0,0,63946,0,0,0,6084,0,0,2,1179982,0,0,0,912,0,0,0,91066,0,0,0,62486,0,0 +17-43093207-G-C,17,43093207,rs1567796086,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr775Ser,p.Thr775Ser,c.2324C>G,missense_variant,Conflicting interpretations of pathogenicity,2159540,,1,628600,0.000001590836780146357,0,0,,,24.5,0.532,0.00,0.00,7.02,0.0300,0.951,0,17692,0,0,0,43740,0,0,0,20978,0,0,1,36060,0,0,0,53044,0,0,0,4148,0,0,0,350058,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43093210-C-T,17,43093210,rs730881482,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly774Asp,p.Gly774Asp,c.2321G>A,missense_variant,Conflicting interpretations of pathogenicity,182146,,1,628628,0.000001590765921976113,0,0,,,12.7,0.268,0.00,0.00,3.82,1.00,0.00,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36060,0,0,0,53066,0,0,0,4148,0,0,0,350064,0,0,,,,,1,69784,0,0,0,33096,0,0 +17-43093211-C-T,17,43093211,rs1555589917,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly774Ser,p.Gly774Ser,c.2320G>A,missense_variant,Conflicting interpretations of pathogenicity,1064262,,1,628646,0.0000015907203736284014,0,0,,,18.8,0.433,0.00,0.00,7.12,0.0900,0.0270,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53076,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69788,0,0,0,33096,0,0 +17-43093212-A-G,17,43093212,rs2154383725,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro773Pro,p.Pro773Pro,c.2319T>C,synonymous_variant,Likely benign,1789533,,1,1461742,6.841152542651166e-7,0,0,,,9.94,,0.00,0.00,0.382,,,0,33476,0,0,0,44722,0,0,0,26132,0,0,0,39690,0,0,0,53344,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86248,0,0,0,60388,0,0 +17-43093213-G-C,17,43093213,rs2053781755,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro773Arg,p.Pro773Arg,c.2318C>G,missense_variant,Conflicting interpretations of pathogenicity,1789512,,2,985196,0.000002030052903178657,0,0,,,24.3,0.476,0.0100,0.0100,4.13,0.00,0.998,0,57190,0,0,0,16240,0,0,0,8622,0,0,0,8828,0,0,0,10872,0,0,0,1936,0,0,0,829918,0,0,0,912,0,0,1,21288,0,0,1,29390,0,0 +17-43093215-T-G,17,43093215,rs876658590,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val772Val,p.Val772Val,c.2316A>C,synonymous_variant,Likely benign,230479,,1,628652,0.0000015907051914254627,0,0,,,7.28,,0.00,0.00,-0.562,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53080,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093216-A-G,17,43093216,rs80357467,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val772Ala,p.Val772Ala,c.2315T>C,missense_variant,Benign,41809,,393,1613936,0.00024350407946783516,0,0,nfe,0.00028483,23.9,0.639,0.00,0.00,2.16,0.0100,0.928,10,74918,0,0,0,59992,0,0,0,29604,0,0,0,44896,0,0,0,63980,0,0,0,6084,0,0,368,1179984,0,0,0,912,0,0,0,91082,0,0,15,62484,0,0 +17-43093219-A-G,17,43093219,rs730881481,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu771Ser,p.Leu771Ser,c.2312T>C,missense_variant,Conflicting interpretations of pathogenicity,182145,,5,780852,0.000006403262077832931,0,0,amr,0.000022810000000000004,25.0,0.492,0.00,0.00,4.64,0.00,0.988,0,59134,0,0,4,59006,0,0,0,24452,0,0,0,41264,0,0,0,63706,0,0,0,4464,0,0,1,418106,0,0,0,912,0,0,0,74622,0,0,0,35186,0,0 +17-43093220-A-G,17,43093220,rs16940,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu771Leu,p.Leu771Leu,c.2311T>C,synonymous_variant,Benign,125554,,536645,1613608,0.33257457821230435,91981,0,sas,0.4943241399999999,3.67,,0.00,0.00,-2.61,,,13290,74946,1224,0,18932,59978,3019,0,10531,29592,1858,0,15906,44862,2869,0,25360,63878,5006,0,2210,6062,430,0,384034,1179822,62431,0,260,912,41,0,45360,91054,11613,0,20762,62502,3490,0 +17-43093229-T-C,17,43093229,rs398122656,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser768Gly,p.Ser768Gly,c.2302A>G,missense_variant,Conflicting interpretations of pathogenicity,91583,,4,628652,0.000006362820765701851,0,0,eas,0.00002205,13.9,0.294,0.00,0.00,0.793,0.0900,0.139,0,17692,0,0,0,43740,0,0,0,20980,0,0,3,36058,0,0,0,53086,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43093229-T-G,17,43093229,rs398122656,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser768Arg,p.Ser768Arg,c.2302A>C,missense_variant,,,,1,628652,0.0000015907051914254627,0,0,,,22.3,0.528,0.00,0.00,0.793,0.0100,0.914,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53086,0,0,0,4148,0,0,1,350064,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43093232-T-C,17,43093232,rs80357194,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser767Gly,p.Ser767Gly,c.2299A>G,missense_variant,Conflicting interpretations of pathogenicity,37461,,6,1613978,0.000003717522791512648,0,0,afr,0.00000443,22.5,0.208,0.00,0.00,0.991,0.00,0.348,2,74936,0,0,1,60004,0,0,0,29602,0,0,0,44894,0,0,0,63994,0,0,0,6084,0,0,0,1179988,0,0,0,912,0,0,0,91084,0,0,3,62480,0,0 +17-43093233-ACT-A,17,43093233,rs80357780,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser766Ter,p.Ser766Ter,c.2296_2297del,frameshift_variant,Pathogenic,17666,lof_flag,1,628658,0.0000015906900095123263,0,0,,,24.4,,0.00,0.0100,-0.169,,,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093235-T-C,17,43093235,rs398122655,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser766Gly,p.Ser766Gly,c.2296A>G,missense_variant,Conflicting interpretations of pathogenicity,91581,,7,1461752,0.000004788774019122259,0,0,nfe,0.0000026200000000000003,23.4,0.453,0.00,0.00,2.95,0.0100,0.768,0,33478,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53372,0,0,0,5768,0,0,7,1111952,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43093236-C-G,17,43093236,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Asp,p.Glu765Asp,c.2295G>C,missense_variant,,,,6,1461756,0.000004104652212818008,0,0,nfe,0.00000194,14.7,0.580,0.00,0.00,0.0140,0.0200,0.819,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53372,0,0,0,5768,0,0,6,1111960,0,0,,,,,0,86244,0,0,0,60392,0,0 +17-43093236-C-A,17,43093236,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Asp,p.Glu765Asp,c.2295G>T,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,14.7,0.580,0.00,0.00,0.0140,0.0200,0.819,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,1,53372,0,0,0,5768,0,0,0,1111960,0,0,,,,,0,86244,0,0,0,60392,0,0 +17-43093236-C-T,17,43093236,rs201875054,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu765Glu,p.Glu765Glu,c.2295G>A,synonymous_variant,Likely benign,185582,,5,1614076,0.000003097747565789963,0,0,eas,0.000007390000000000001,4.65,,0.00,0.00,0.0140,,,2,75052,0,0,0,60014,0,0,0,29600,0,0,2,44880,0,0,0,63994,0,0,0,6062,0,0,1,1179986,0,0,0,912,0,0,0,91070,0,0,0,62506,0,0 +17-43093238-C-T,17,43093238,rs80357449,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu765Lys,p.Glu765Lys,c.2293G>A,missense_variant,,,,4,1461756,0.0000027364348085453387,0,0,nfe,7.200000000000001e-7,22.9,0.529,0.00,0.00,5.91,0.0300,0.893,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,3,1111966,0,0,,,,,0,86242,0,0,1,60392,0,0 +17-43093239-T-C,17,43093239,rs1555589969,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val764Val,p.Val764Val,c.2292A>G,synonymous_variant,Likely benign,479254,,1,628662,0.000001590679888397899,0,0,,,2.01,,0.00,0.00,-1.00,,,0,17692,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53096,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69792,0,0,1,33092,0,0 +17-43093240-A-G,17,43093240,rs1234701709,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val764Ala,p.Val764Ala,c.2291T>C,missense_variant,Conflicting interpretations of pathogenicity,1392157,,1,152196,0.0000065704749139267785,0,0,,,0.609,0.324,0.00,0.00,-0.534,,,0,41440,0,0,0,15286,0,0,0,3472,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43093242-A-G,17,43093242,rs1567796270,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser763Ser,p.Ser763Ser,c.2289T>C,synonymous_variant,Likely benign,628443,,7,1461766,0.0000047887281548483135,0,0,nfe,0.0000026200000000000003,8.72,,0.00,0.00,2.27,,,0,33478,0,0,0,44724,0,0,0,26130,0,0,0,39688,0,0,0,53366,0,0,0,5768,0,0,7,1111968,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093245-T-A,17,43093245,rs273898682,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg762Ser,p.Arg762Ser,c.2286A>T,missense_variant,Benign,54522,,47,1614104,0.00002911832199164366,1,0,eas,0.00053764,22.5,0.813,0.00,0.00,-0.173,0.0100,0.588,0,75062,0,0,0,60014,0,0,0,29602,0,0,33,44876,0,0,0,63996,0,0,0,6062,0,0,1,1179994,0,0,0,912,0,0,12,91078,1,0,1,62508,0,0 +17-43093249-T-G,17,43093249,rs80356869,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Ala,p.Glu761Ala,c.2282A>C,missense_variant,Conflicting interpretations of pathogenicity,54520,,1,628662,0.000001590679888397899,0,0,,,14.3,0.445,0.00,0.00,0.259,0.0700,0.386,1,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53088,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093249-T-C,17,43093249,rs80356869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Gly,p.Glu761Gly,c.2282A>G,missense_variant,Conflicting interpretations of pathogenicity,1788957,,1,628662,0.000001590679888397899,0,0,,,18.3,0.441,0.00,0.00,0.259,0.0200,0.119,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53088,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093250-C-G,17,43093250,rs397507198,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu761Gln,p.Glu761Gln,c.2281G>C,missense_variant,Conflicting interpretations of pathogenicity,185726,,1,628652,0.0000015907051914254627,0,0,,,18.9,0.463,0.00,0.00,4.64,0.140,0.506,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53086,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69790,0,0,0,33092,0,0 +17-43093252-G-A,17,43093252,rs1161074446,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr760Ile,p.Thr760Ile,c.2279C>T,missense_variant,Conflicting interpretations of pathogenicity,659006,,2,628662,0.000003181359776795798,0,0,,,3.55,0.456,0.00,0.00,0.338,0.190,0.0980,0,17688,0,0,0,43740,0,0,0,20982,0,0,1,36058,0,0,0,53094,0,0,0,4148,0,0,0,350068,0,0,,,,,1,69790,0,0,0,33094,0,0 +17-43093253-T-C,17,43093253,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr760Ala,p.Thr760Ala,c.2278A>G,missense_variant,Conflicting interpretations of pathogenicity,1788885,,1,628668,0.0000015906647069677476,0,0,,,14.1,0.313,0.00,0.00,0.501,0.190,0.0980,0,17690,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53094,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43093254-T-C,17,43093254,rs2154385875,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln759Gln,p.Gln759Gln,c.2277A>G,synonymous_variant,Likely benign,1788867,,1,833108,0.0000012003245677631232,0,0,,,6.83,,0.00,0.00,0.349,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093256-G-A,17,43093256,rs80356999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln759Ter,p.Gln759Ter,c.2275C>T,stop_gained,Pathogenic,54519,lof_flag,1,628654,0.0000015907001307555508,0,0,,,35.0,,0.00,0.0100,2.90,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36058,0,0,0,53084,0,0,0,4148,0,0,0,350066,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093261-AC-A,17,43093261,rs80357583,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val757PhefsTer8,p.Val757PhefsTer8,c.2269del,frameshift_variant,Pathogenic,37459,lof_flag,4,628678,0.000006362557620912454,0,0,nfe,0.00000228,21.6,,0.00,0.0100,0.311,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53104,0,0,0,4148,0,0,3,350066,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43093262-C-A,17,43093262,rs772617029,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val757Phe,p.Val757Phe,c.2269G>T,missense_variant,Conflicting interpretations of pathogenicity,438918,,1,628660,0.0000015906849489390132,0,0,,,18.3,0.412,0.00,0.00,-0.167,0.0800,0.611,0,17692,0,0,1,43740,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093263-C-A,17,43093263,rs80356884,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Ser,p.Arg756Ser,c.2268G>T,missense_variant,Conflicting interpretations of pathogenicity,224428,,2,1461770,0.0000013682043002661157,0,0,,,7.51,0.349,0.00,0.00,1.27,0.0700,0.0700,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86248,0,0,1,60394,0,0 +17-43093263-C-G,17,43093263,rs80356884,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg756Ser,p.Arg756Ser,c.2268G>C,missense_variant,Conflicting interpretations of pathogenicity,54518,,34,1613912,0.000021066823965618945,0,0,nfe,0.00001645,7.67,0.349,0.00,0.00,1.27,0.0700,0.0700,0,74914,0,0,0,59988,0,0,1,29600,0,0,1,44888,0,0,0,63974,0,0,0,6084,0,0,28,1179986,0,0,0,912,0,0,3,91078,0,0,1,62488,0,0 +17-43093263-C-T,17,43093263,rs80356884,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Arg,p.Arg756Arg,c.2268G>A,synonymous_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,5.10,,0.00,0.00,1.27,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111970,0,0,,,,,1,86248,0,0,0,60394,0,0 +17-43093265-T-C,17,43093265,rs1064795091,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg756Gly,p.Arg756Gly,c.2266A>G,missense_variant,Conflicting interpretations of pathogenicity,421371,,1,628670,0.0000015906596465554266,0,0,,,16.5,0.444,0.00,0.00,1.97,0.170,0.113,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53092,0,0,0,4148,0,0,1,350070,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43093267-T-G,17,43093267,rs922908090,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu755Ala,p.Glu755Ala,c.2264A>C,missense_variant,Conflicting interpretations of pathogenicity,619787,,1,1461774,6.841002781551731e-7,0,0,,,11.7,0.541,0.00,0.00,0.705,0.220,0.386,0,33478,0,0,1,44722,0,0,0,26134,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093267-T-C,17,43093267,rs922908090,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu755Gly,p.Glu755Gly,c.2264A>G,missense_variant,Conflicting interpretations of pathogenicity,482906,,2,152194,0.000013141122514685205,0,0,afr,0.00000799,10.0,0.353,0.00,0.00,0.705,,,2,41464,0,0,0,15266,0,0,0,3468,0,0,0,5204,0,0,0,10620,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43093267-TC-T,17,43093267,rs80357960,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu755LysfsTer10,p.Glu755LysfsTer10,c.2263del,frameshift_variant,Pathogenic,54517,lof_flag,2,1461774,0.0000013682005563103463,0,0,nfe,2.999999999999999e-7,22.9,,0.00,0.0100,0.705,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,2,1111972,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093268-C-T,17,43093268,rs41286296,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu755Lys,p.Glu755Lys,c.2263G>A,missense_variant,Conflicting interpretations of pathogenicity,230102,,5,780866,0.000006403147274948583,0,0,afr,0.00003267,16.9,0.445,0.00,0.00,2.48,0.690,0.686,5,59162,0,0,0,59000,0,0,0,24454,0,0,0,41260,0,0,0,63710,0,0,0,4464,0,0,0,418096,0,0,0,912,0,0,0,74620,0,0,0,35188,0,0 +17-43093270-CCACTT-C,17,43093270,rs2053792576,CCACTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser753ArgfsTer7,p.Ser753ArgfsTer7,c.2256_2260del,frameshift_variant,Pathogenic,965126,lof_flag,1,833110,0.0000012003216862119048,0,0,,,22.6,,0.00,0.0100,0.126,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093273-C-T,17,43093273,rs878854939,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser753Asn,p.Ser753Asn,c.2258G>A,missense_variant,Conflicting interpretations of pathogenicity,240782,,3,1461778,0.0000020522952185625998,0,0,nfe,2.999999999999999e-7,10.2,0.254,0.00,0.00,1.38,0.150,0.0490,0,33478,0,0,1,44722,0,0,0,26134,0,0,0,39686,0,0,0,53374,0,0,0,5768,0,0,2,1111970,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43093279-A-G,17,43093279,rs587781684,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met751Thr,p.Met751Thr,c.2252T>C,missense_variant,Conflicting interpretations of pathogenicity,141357,,13,1613958,0.000008054732527116567,0,0,nfe,0.00000542,6.63,0.325,0.00,0.0100,1.05,0.110,0.0170,1,74916,0,0,0,59994,0,0,0,29602,0,0,0,44888,0,0,0,64004,0,0,0,6084,0,0,12,1179990,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 +17-43093280-T-C,17,43093280,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met751Val,p.Met751Val,c.2251A>G,missense_variant,,,,1,1459988,6.849371364696148e-7,0,0,,,0.0330,0.254,0.00,0.00,-0.0840,1.00,0.00300,0,33446,0,0,0,44718,0,0,0,26120,0,0,0,39680,0,0,0,53388,0,0,0,5766,0,0,1,1110326,0,0,,,,,0,86222,0,0,0,60322,0,0 +17-43093281-G-T,17,43093281,rs1245494100,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu750Leu,p.Leu750Leu,c.2250C>A,synonymous_variant,,,,1,628670,0.0000015906596465554266,0,0,,,0.707,,0.00,0.00,0.0590,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53106,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69782,0,0,1,33096,0,0 +17-43093282-A-G,17,43093282,rs1555590048,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu750Pro,p.Leu750Pro,c.2249T>C,missense_variant,Conflicting interpretations of pathogenicity,496354,,1,833106,0.0000012003274493281767,0,0,,,4.39,0.539,0.00,0.00,-0.959,0.240,0.501,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093284-A-G,17,43093284,rs1289739423,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Asp,p.Asp749Asp,c.2247T>C,synonymous_variant,Likely benign,482956,,1,628670,0.0000015906596465554266,0,0,,,3.98,,0.00,0.00,0.309,,,0,17692,0,0,0,43738,0,0,0,20980,0,0,1,36058,0,0,0,53106,0,0,0,4148,0,0,0,350064,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43093285-T-A,17,43093285,rs730881479,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp749Val,p.Asp749Val,c.2246A>T,missense_variant,Conflicting interpretations of pathogenicity,182143,,1,152178,0.000006571252086372537,0,0,,,7.73,0.454,0.00,0.00,-0.118,0.0200,0.733,1,41452,0,0,0,15260,0,0,0,3470,0,0,0,5208,0,0,0,10606,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43093285-T-C,17,43093285,rs730881479,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Gly,p.Asp749Gly,c.2246A>G,missense_variant,Conflicting interpretations of pathogenicity,947747,,1,628682,0.0000015906292847576358,0,0,,,2.01,0.424,0.00,0.0100,-0.118,0.220,0.380,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43093286-C-A,17,43093286,rs80357114,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749Tyr,p.Asp749Tyr,c.2245G>T,missense_variant,Conflicting interpretations of pathogenicity,54512,,2,628668,0.000003181329413935495,0,0,amr,0.000007580000000000001,16.0,0.430,0.00,0.00,3.35,0.0100,0.876,0,17692,0,0,2,43738,0,0,0,20982,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350058,0,0,,,,,0,69784,0,0,0,33094,0,0 +17-43093289-TG-T,17,43093289,rs80357650,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp749IlefsTer4,p.Asp749IlefsTer4,c.2241del,frameshift_variant,Pathogenic,54510,lof_flag,1,833108,0.0000012003245677631232,0,0,,,18.9,,0.00,0.0100,-0.626,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093290-G-T,17,43093290,rs1597871237,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro747Pro,p.Pro747Pro,c.2241C>A,synonymous_variant,,,,1,628654,0.0000015907001307555508,0,0,,,1.37,,0.00,0.00,-0.0100,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,1,36058,0,0,0,53102,0,0,0,4148,0,0,0,350060,0,0,,,,,0,69782,0,0,0,33096,0,0 +17-43093295-C-T,17,43093295,rs876660267,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp746Asn,p.Asp746Asn,c.2236G>A,missense_variant,Conflicting interpretations of pathogenicity,1019393,,1,152148,0.000006572547782422378,0,0,,,17.2,0.264,0.00,0.00,2.25,,,1,41452,0,0,0,15258,0,0,0,3468,0,0,0,5202,0,0,0,10608,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4818,0,0,0,2090,0,0 +17-43093299-A-C,17,43093299,rs4986846,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala744Ala,p.Ala744Ala,c.2232T>G,synonymous_variant,Likely benign,183843,,25,1613976,0.00001548969749240385,0,0,nfe,0.00001144,5.47,,0.00,0.00,4.93,,,0,74928,0,0,0,59994,0,0,0,29600,0,0,0,44890,0,0,0,64008,0,0,2,6084,0,0,21,1180004,0,0,0,912,0,0,0,91072,0,0,2,62484,0,0 +17-43093299-A-G,17,43093299,rs4986846,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala744Ala,p.Ala744Ala,c.2232T>C,synonymous_variant,Benign,54508,,111,1614094,0.00006876922905357433,1,0,afr,0.00097457,5.81,,0.00,0.00,4.93,,,88,75050,1,0,9,60014,0,0,0,29600,0,0,0,44878,0,0,0,64008,0,0,1,6062,0,0,4,1179996,0,0,0,912,0,0,1,91068,0,0,8,62506,0,0 +17-43093300-G-A,17,43093300,rs786204220,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala744Val,p.Ala744Val,c.2231C>T,missense_variant,Conflicting interpretations of pathogenicity,1319808,,1,152150,0.000006572461386789352,0,0,,,20.5,0.474,0.00,0.00,1.18,,,0,41434,0,0,0,15270,0,0,0,3472,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 +17-43093301-C-T,17,43093301,rs786203435,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala744Thr,p.Ala744Thr,c.2230G>A,missense_variant,Likely benign,187051,,1,1461720,6.841255507210683e-7,0,0,,,0.144,0.438,0.00,0.00,-0.410,1.00,0.00600,0,33470,0,0,0,44718,0,0,1,26128,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,0,1111946,0,0,,,,,0,86226,0,0,0,60386,0,0 +17-43093301-CATT-C,17,43093301,rs769088801,CATT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743del,p.Asn743del,c.2227_2229del,inframe_deletion,,,,3,1461720,0.000002052376652163205,0,0,nfe,2.999999999999999e-7,2.62,,0.00,0.00,-0.410,,,0,33470,0,0,1,44718,0,0,0,26128,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,2,1111946,0,0,,,,,0,86226,0,0,0,60386,0,0 +17-43093303-T-G,17,43093303,rs1567796489,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743Thr,p.Asn743Thr,c.2228A>C,missense_variant,,,,1,833100,0.0000012003360941063497,0,0,,,0.0340,0.299,0.00,0.00,-1.54,0.140,0.0200,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093304-T-C,17,43093304,rs1212635015,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn743Asp,p.Asn743Asp,c.2227A>G,missense_variant,,,,1,628606,0.0000015908215957213262,0,0,,,4.61,0.167,0.00,0.00,0.101,0.130,0.0140,1,17686,0,0,0,43724,0,0,0,20970,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350050,0,0,,,,,0,69768,0,0,0,33088,0,0 +17-43093307-T-C,17,43093307,rs876658733,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn742Asp,p.Asn742Asp,c.2224A>G,missense_variant,Conflicting interpretations of pathogenicity,230731,,1,152234,0.0000065688348200796145,0,0,,,1.29,0.292,0.00,0.00,-0.358,,,1,41480,0,0,0,15264,0,0,0,3468,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,0,68034,0,0,0,910,0,0,0,4838,0,0,0,2094,0,0 +17-43093309-G-C,17,43093309,rs80357051,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser741Cys,p.Ser741Cys,c.2222C>G,missense_variant,Conflicting interpretations of pathogenicity,54506,,6,780774,0.000007684682123123978,0,0,nfe,0.0000061599999999999995,15.2,0.394,0.00,0.00,1.17,0.0200,0.599,0,59136,0,0,0,58992,0,0,0,24442,0,0,0,41262,0,0,0,63714,0,0,0,4464,0,0,6,418086,0,0,0,910,0,0,0,74586,0,0,0,35182,0,0 +17-43093309-G-A,17,43093309,rs80357051,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser741Phe,p.Ser741Phe,c.2222C>T,missense_variant,Conflicting interpretations of pathogenicity,54507,,3,628590,0.000004772586264496731,0,0,nfe,0.00000228,16.0,0.467,0.00,0.00,1.17,0.0300,0.733,0,17684,0,0,0,43722,0,0,0,20972,0,0,0,36058,0,0,0,53108,0,0,0,4148,0,0,3,350056,0,0,,,,,0,69754,0,0,0,33088,0,0 +17-43093311-C-T,17,43093311,rs2154391327,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Val,p.Val740Val,c.2220G>A,synonymous_variant,Likely benign,2450672,,2,833098,0.0000024006779514534903,0,0,nfe,4.4e-7,1.21,,0.00,0.00,0.874,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093313-C-G,17,43093313,rs80357415,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Leu,p.Val740Leu,c.2218G>C,missense_variant,Conflicting interpretations of pathogenicity,54505,,2,1461498,0.000001368458937336897,0,0,nfe,2.999999999999999e-7,0.851,0.338,0.00,0.00,0.719,0.0700,0.0680,0,33420,0,0,0,44638,0,0,0,26118,0,0,0,39688,0,0,0,53388,0,0,0,5768,0,0,2,1111922,0,0,,,,,0,86190,0,0,0,60366,0,0 +17-43093313-C-A,17,43093313,rs80357415,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val740Leu,p.Val740Leu,c.2218G>T,missense_variant,Conflicting interpretations of pathogenicity,185481,,3,1461498,0.000002052688406005345,0,0,,,0.806,0.338,0.00,0.00,0.719,0.0700,0.0680,0,33420,0,0,0,44638,0,0,0,26118,0,0,0,39688,0,0,0,53388,0,0,2,5768,0,0,1,1111922,0,0,,,,,0,86190,0,0,0,60366,0,0 +17-43093314-T-C,17,43093314,rs200521980,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Lys,p.Lys739Lys,c.2217A>G,synonymous_variant,Likely benign,415580,,17,1461478,0.000011632060147330306,0,0,sas,0.00012481,2.50,,0.00,0.0100,-0.422,,,0,33418,0,0,0,44634,0,0,0,26116,0,0,0,39688,0,0,0,53384,0,0,0,5768,0,0,0,1111914,0,0,,,,,17,86186,0,0,0,60370,0,0 +17-43093315-T-TA,17,43093315,,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739IlefsTer4,p.Lys739IlefsTer4,c.2215_2216insT,frameshift_variant,,,lof_flag,1,628378,0.0000015913988077240132,0,0,,,22.8,,0.00,0.0200,0.0840,,,0,17636,0,0,0,43650,0,0,0,20964,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,1,350004,0,0,,,,,0,69732,0,0,0,33072,0,0 +17-43093316-T-C,17,43093316,rs56329598,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Glu,p.Lys739Glu,c.2215A>G,missense_variant,Conflicting interpretations of pathogenicity,481479,,5,1461466,0.000003421222252176924,0,0,nfe,8.4e-7,16.1,0.400,0.00,0.0100,2.78,0.0300,0.0290,0,33412,0,0,1,44642,0,0,0,26116,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,4,1111906,0,0,,,,,0,86184,0,0,0,60368,0,0 +17-43093316-T-TA,17,43093316,rs80357574,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys739Ter,p.Lys739Ter,c.2214dup,frameshift_variant,Pathogenic,186881,lof_flag,1,1461466,6.842444504353847e-7,0,0,,,22.1,,0.00,0.0100,2.78,,,0,33412,0,0,0,44642,0,0,0,26116,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,0,1111906,0,0,,,,,1,86184,0,0,0,60368,0,0 +17-43093319-C-T,17,43093319,rs2154392681,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val738Ile,p.Val738Ile,c.2212G>A,missense_variant,,,,1,628352,0.0000015914646567529029,0,0,,,0.00200,0.185,0.00,0.00,-1.74,1.00,0.0100,0,17612,0,0,0,43646,0,0,0,20964,0,0,0,36058,0,0,0,53112,0,0,0,4148,0,0,0,350012,0,0,,,,,1,69732,0,0,0,33068,0,0 +17-43093323-T-C,17,43093323,rs2154393302,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu736Glu,p.Glu736Glu,c.2208A>G,synonymous_variant,Likely benign,1617691,,1,833094,0.0000012003447390090433,0,0,,,1.13,,0.00,0.00,0.527,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43093324-T-G,17,43093324,rs397507196,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu736Ala,p.Glu736Ala,c.2207A>C,missense_variant,Benign/Likely benign,37455,,6,1613432,0.0000037187808348910893,0,0,,,10.3,0.450,0.00,0.00,-0.182,0.160,0.217,0,74798,0,0,1,59856,0,0,0,29582,0,0,1,44890,0,0,0,64014,0,0,0,6084,0,0,0,1179892,0,0,0,912,0,0,0,90964,0,0,4,62440,0,0 +17-43093328-G-C,17,43093328,rs587781781,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu735Val,p.Leu735Val,c.2203C>G,missense_variant,Conflicting interpretations of pathogenicity,141481,,2,833092,0.0000024006952413418927,0,0,nfe,4.4e-7,7.25,0.539,0.00,0.00,0.679,0.0800,0.549,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093329-T-G,17,43093329,rs1475423886,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys734Asn,p.Lys734Asn,c.2202A>C,missense_variant,,,,1,628112,0.000001592072751356446,0,0,,,0.0670,0.117,0.00,0.00,-0.0500,1.00,0.00100,0,17558,0,0,0,43598,0,0,0,20952,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,1,349968,0,0,,,,,0,69678,0,0,0,33052,0,0 +17-43093329-TTTCTC-T,17,43093329,rs80357507,TTTCTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu733ThrfsTer5,p.Glu733ThrfsTer5,c.2197_2201del,frameshift_variant,Pathogenic,54495,lof_flag,2,780296,0.0000025631298891702638,0,0,,,22.1,,0.00,0.0100,-0.0500,,,0,58998,0,0,0,58874,0,0,0,24422,0,0,0,41256,0,0,0,63720,0,0,0,4464,0,0,2,417998,0,0,0,912,0,0,0,74510,0,0,0,35142,0,0 +17-43093332-CTCT-C,17,43093332,rs1167268646,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu733del,p.Glu733del,c.2196_2198del,inframe_deletion,Uncertain significance,801064,,1,628100,0.0000015921031682853049,0,0,,,7.87,,0.00,0.00,0.998,,,0,17564,0,0,0,43600,0,0,0,20952,0,0,1,36056,0,0,0,53096,0,0,0,4148,0,0,0,349970,0,0,,,,,0,69668,0,0,0,33046,0,0 +17-43093334-CTTCTTT-C,17,43093334,rs1394201588,CTTCTTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys731_Glu732del,p.Lys731_Glu732del,c.2191_2196del,inframe_deletion,Uncertain significance,489709,,1,628080,0.000001592153865749586,0,0,,,8.20,,0.00,0.00,2.08,,,0,17560,0,0,0,43602,0,0,0,20952,0,0,0,36052,0,0,0,53090,0,0,0,4148,0,0,1,349942,0,0,,,,,0,69676,0,0,0,33058,0,0 +17-43093336-T-G,17,43093336,rs876660463,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu732Ala,p.Glu732Ala,c.2195A>C,missense_variant,Conflicting interpretations of pathogenicity,233526,,1,152206,0.000006570043230884459,0,0,,,9.92,0.404,0.00,0.00,0.461,,,1,41466,0,0,0,15278,0,0,0,3470,0,0,0,5204,0,0,0,10616,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43093337-C-A,17,43093337,rs80357426,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu732Ter,p.Glu732Ter,c.2194G>T,stop_gained,Pathogenic,54492,lof_flag,2,985268,0.000002029904553887876,0,0,,,33.0,,0.00,0.0100,0.727,,,1,57228,0,0,0,16260,0,0,0,8622,0,0,0,8830,0,0,0,10890,0,0,0,1936,0,0,1,829906,0,0,0,912,0,0,0,21294,0,0,0,29390,0,0 +17-43093339-T-C,17,43093339,rs1415985638,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys731Arg,p.Lys731Arg,c.2192A>G,missense_variant,,,,1,628062,0.0000015921994962280793,0,0,,,0.148,0.390,0.00,0.00,-1.26,0.510,0.00,0,17556,0,0,0,43602,0,0,0,20952,0,0,0,36054,0,0,0,53092,0,0,0,4148,0,0,1,349950,0,0,,,,,0,69666,0,0,0,33042,0,0 +17-43093341-TTCTTC-T,17,43093341,rs886040007,TTCTTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu729LysfsTer9,p.Glu729LysfsTer9,c.2185_2189del,frameshift_variant,Pathogenic,266230,lof_flag,1,628096,0.0000015921133075198695,0,0,,,22.1,,0.00,0.0100,0.165,,,0,17556,0,0,0,43594,0,0,0,20958,0,0,1,36054,0,0,0,53102,0,0,0,4148,0,0,0,349966,0,0,,,,,0,69666,0,0,0,33052,0,0 +17-43093342-T-G,17,43093342,rs2154394845,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu730Ala,p.Glu730Ala,c.2189A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.64,0.388,0.00,0.00,0.479,0.0800,0.369,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093347-T-A,17,43093347,rs2154395074,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg728Ser,p.Arg728Ser,c.2184A>T,missense_variant,,,,1,628118,0.000001592057543327846,0,0,,,21.0,0.495,0.00,0.00,0.971,0.0700,0.461,0,17582,0,0,0,43610,0,0,0,20950,0,0,0,36058,0,0,0,53070,0,0,0,4148,0,0,1,349962,0,0,,,,,0,69692,0,0,0,33046,0,0 +17-43093348-C-T,17,43093348,rs80357335,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg728Lys,p.Arg728Lys,c.2183G>A,missense_variant,Conflicting interpretations of pathogenicity,54487,,14,1613300,0.000008677865245149693,0,0,nfe,0.00000429,8.20,0.347,0.00,0.00,0.806,0.460,0.491,0,74826,0,0,0,59862,0,0,0,29566,0,0,0,44882,0,0,1,63954,0,0,0,6084,0,0,10,1179836,0,0,0,912,0,0,0,90942,0,0,3,62436,0,0 +17-43093351-G-A,17,43093351,rs80356912,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro727Leu,p.Pro727Leu,c.2180C>T,missense_variant,Benign,54486,,4,1461152,0.0000027375659753400056,0,0,nfe,7.200000000000001e-7,10.9,0.364,0.00,0.00,-0.0210,0.0700,0.0150,0,33382,0,0,0,44582,0,0,0,26096,0,0,0,39688,0,0,0,53350,0,0,0,5768,0,0,3,1111834,0,0,,,,,0,86110,0,0,1,60342,0,0 +17-43093355-G-A,17,43093355,rs2053811444,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu726Phe,p.Leu726Phe,c.2176C>T,missense_variant,,,,3,985196,0.0000030450793547679854,0,0,nfe,9.6e-7,21.7,0.457,0.00,0.00,2.38,0.0800,0.364,0,57212,0,0,0,16226,0,0,0,8618,0,0,0,8830,0,0,0,10884,0,0,0,1936,0,0,3,829908,0,0,0,912,0,0,0,21286,0,0,0,29384,0,0 +17-43093357-C-T,17,43093357,rs1555590284,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser725Asn,p.Ser725Asn,c.2174G>A,missense_variant,,,,1,628540,0.000001590988640341108,0,0,,,12.6,0.310,0.00,0.00,0.754,0.180,0.0810,0,17684,0,0,0,43722,0,0,0,20962,0,0,0,36058,0,0,1,53076,0,0,0,4148,0,0,0,350048,0,0,,,,,0,69752,0,0,0,33090,0,0 +17-43093360-G-A,17,43093360,rs751104940,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro724Leu,p.Pro724Leu,c.2171C>T,missense_variant,Conflicting interpretations of pathogenicity,581291,,1,628542,0.0000015909835778675093,0,0,,,21.8,0.429,0.00,0.00,1.96,0.0200,0.728,0,17686,0,0,0,43718,0,0,0,20960,0,0,0,36058,0,0,0,53072,0,0,0,4148,0,0,0,350056,0,0,,,,,1,69754,0,0,0,33090,0,0 +17-43093361-G-T,17,43093361,rs2154395681,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro724Thr,p.Pro724Thr,c.2170C>A,missense_variant,,,,1,1461676,6.841461445628169e-7,0,0,,,22.0,0.435,0.00,0.00,0.150,0.0200,0.948,0,33472,0,0,0,44706,0,0,0,26130,0,0,0,39688,0,0,0,53348,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86212,0,0,0,60390,0,0 +17-43093364-T-C,17,43093364,rs4986845,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn723Asp,p.Asn723Asp,c.2167A>G,missense_variant,Benign,37454,,549,1613992,0.0003401503848841878,4,0,afr,0.00552597,8.38,0.363,0.00,0.00,-0.748,0.180,0.119,449,75044,3,0,56,59988,1,0,0,29596,0,0,0,44882,0,0,0,63998,0,0,4,6062,0,0,2,1179978,0,0,0,912,0,0,3,91028,0,0,35,62504,0,0 +17-43093367-C-A,17,43093367,rs2154395949,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val722Phe,p.Val722Phe,c.2164G>T,missense_variant,Conflicting interpretations of pathogenicity,1720088,,1,1461706,6.841321031725942e-7,0,0,,,20.3,0.563,0.00,0.0100,1.62,0.0100,0.945,1,33472,0,0,0,44708,0,0,0,26128,0,0,0,39688,0,0,0,53364,0,0,0,5768,0,0,0,1111972,0,0,,,,,0,86216,0,0,0,60390,0,0 +17-43093369-A-G,17,43093369,rs2154396157,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe721Ser,p.Phe721Ser,c.2162T>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.74,0.498,0.00,0.00,-0.768,0.310,0.101,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093372-T-A,17,43093372,rs2053814550,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu720Val,p.Glu720Val,c.2159A>T,missense_variant,,,,1,152200,0.00000657030223390276,0,0,,,19.0,0.453,0.00,0.00,1.52,,,1,41464,0,0,0,15260,0,0,0,3472,0,0,0,5204,0,0,0,10618,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43093373-C-T,17,43093373,rs80356875,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu720Lys,p.Glu720Lys,c.2158G>A,missense_variant,Conflicting interpretations of pathogenicity,54479,,1,628614,0.000001590801350272186,0,0,,,15.9,0.548,0.00,0.00,5.01,0.0700,0.678,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69760,0,0,0,33094,0,0 +17-43093374-T-C,17,43093374,rs1597871809,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys719Lys,p.Lys719Lys,c.2157A>G,synonymous_variant,Likely benign,820811,,2,1461742,0.000001368230508530233,0,0,,,6.61,,0.00,0.00,0.590,,,0,33474,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53370,0,0,1,5768,0,0,1,1111980,0,0,,,,,0,86228,0,0,0,60392,0,0 +17-43093376-T-C,17,43093376,rs80357147,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys719Glu,p.Lys719Glu,c.2155A>G,missense_variant,Benign,37452,,67,1614060,0.00004151022886385884,0,0,afr,0.0006850300000000001,12.7,0.404,0.00,0.00,0.218,0.0700,0.0170,64,75066,0,0,0,59998,0,0,0,29600,0,0,0,44876,0,0,0,63994,0,0,0,6062,0,0,0,1179994,0,0,0,912,0,0,0,91052,0,0,3,62506,0,0 +17-43093377-A-C,17,43093377,rs779227326,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu718Leu,p.Leu718Leu,c.2154T>G,synonymous_variant,Likely benign,427293,,6,628636,0.000009544474067663959,0,0,,,6.28,,0.00,0.00,3.44,,,0,17690,0,0,0,43726,0,0,0,20978,0,0,0,36056,0,0,3,53096,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69776,0,0,3,33094,0,0 +17-43093378-A-C,17,43093378,rs748550848,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu718Arg,p.Leu718Arg,c.2153T>G,missense_variant,Conflicting interpretations of pathogenicity,482963,,3,1461762,0.0000020523176823586878,0,0,nfe,2.999999999999999e-7,6.83,0.524,0.00,0.00,0.397,0.200,0.566,0,33476,0,0,1,44714,0,0,0,26126,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,2,1111984,0,0,,,,,0,86236,0,0,0,60392,0,0 +17-43093380-T-C,17,43093380,rs2154396785,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Glu,p.Glu717Glu,c.2151A>G,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,0.774,,0.00,0.00,-0.0480,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093382-C-T,17,43093382,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Lys,p.Glu717Lys,c.2149G>A,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,1.32,0.307,0.00,0.00,0.513,1.00,0.00100,0,33476,0,0,0,44718,0,0,0,26128,0,0,0,39686,0,0,0,53376,0,0,0,5768,0,0,1,1111988,0,0,,,,,0,86228,0,0,0,60388,0,0 +17-43093382-C-A,17,43093382,rs886040004,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu717Ter,p.Glu717Ter,c.2149G>T,stop_gained,Pathogenic,266226,lof_flag,1,1461756,6.841087021363347e-7,0,0,,,32.0,,0.00,0.0100,0.513,,,0,33476,0,0,0,44718,0,0,0,26128,0,0,0,39686,0,0,0,53376,0,0,0,5768,0,0,0,1111988,0,0,,,,,1,86228,0,0,0,60388,0,0 +17-43093383-A-G,17,43093383,rs730881478,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser716Ser,p.Ser716Ser,c.2148T>C,synonymous_variant,Likely benign,1085588,,2,1461788,0.0000013681874526265095,0,0,nfe,2.999999999999999e-7,3.12,,0.00,0.00,0.571,,,0,33476,0,0,0,44718,0,0,0,26130,0,0,0,39688,0,0,0,53380,0,0,0,5768,0,0,2,1111988,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43093385-T-C,17,43093385,rs2053817086,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser716Gly,p.Ser716Gly,c.2146A>G,missense_variant,Conflicting interpretations of pathogenicity,1172246,,2,985296,0.0000020298468683522516,0,0,,,3.95,0.221,0.00,0.00,0.258,0.250,0.0120,0,57244,0,0,0,16252,0,0,0,8622,0,0,0,8832,0,0,0,10896,0,0,0,1936,0,0,0,829918,0,0,0,910,0,0,2,21294,0,0,0,29392,0,0 +17-43093386-G-C,17,43093386,rs1461142307,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr715Thr,p.Thr715Thr,c.2145C>G,synonymous_variant,,,,1,628650,0.000001590710252127575,0,0,,,0.848,,0.00,0.00,0.681,,,0,17690,0,0,1,43734,0,0,0,20974,0,0,0,36058,0,0,0,53090,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69784,0,0,0,33092,0,0 +17-43093391-T-C,17,43093391,rs568312345,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn714Asp,p.Asn714Asp,c.2140A>G,missense_variant,Conflicting interpretations of pathogenicity,922899,,2,985416,0.00000202959968175877,0,0,,,1.78,0.379,0.00,0.00,-0.491,0.210,0.281,0,57362,0,0,0,16264,0,0,0,8618,0,0,0,8818,0,0,0,10906,0,0,0,1914,0,0,0,829920,0,0,0,910,0,0,1,21292,0,0,1,29412,0,0 +17-43093392-T-G,17,43093392,rs1131692089,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser713Ser,p.Ser713Ser,c.2139A>C,synonymous_variant,Likely benign,427279,,9,1461796,0.000006156809842139395,0,0,nfe,0.00000194,1.71,,0.00,0.00,-0.144,,,0,33480,0,0,0,44718,0,0,0,26130,0,0,0,39690,0,0,0,53374,0,0,0,5766,0,0,6,1111992,0,0,,,,,0,86254,0,0,3,60392,0,0 +17-43093393-G-C,17,43093393,rs80357233,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser713Ter,p.Ser713Ter,c.2138C>G,stop_gained,Pathogenic,37451,lof_flag,2,152104,0.000013148898122337348,0,0,nfe,0.00000488,33.0,,0.00,0.00,1.82,,,0,41422,0,0,0,15256,0,0,0,3468,0,0,0,5198,0,0,0,10602,0,0,0,316,0,0,2,68008,0,0,0,910,0,0,0,4830,0,0,0,2094,0,0 +17-43093400-T-C,17,43093400,rs747046197,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys711Glu,p.Lys711Glu,c.2131A>G,missense_variant,Conflicting interpretations of pathogenicity,229793,,1,628678,0.0000015906394052281136,0,0,,,8.35,0.436,0.00,0.00,1.68,0.180,0.0270,0,17694,0,0,0,43734,0,0,0,20978,0,0,1,36060,0,0,0,53104,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43093401-A-C,17,43093401,rs273898678,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr710Thr,p.Thr710Thr,c.2130T>G,synonymous_variant,Likely benign,54474,,1,628696,0.0000015905938641251098,0,0,,,1.68,,0.00,0.00,0.816,,,0,17694,0,0,0,43734,0,0,0,20978,0,0,0,36060,0,0,0,53108,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093403-T-C,17,43093403,rs876659959,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr710Ala,p.Thr710Ala,c.2128A>G,missense_variant,Conflicting interpretations of pathogenicity,232737,,1,833108,0.0000012003245677631232,0,0,,,1.82,0.562,0.00,0.00,-0.110,0.180,0.759,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093405-A-G,17,43093405,rs1567796937,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe709Ser,p.Phe709Ser,c.2126T>C,missense_variant,Conflicting interpretations of pathogenicity,1387599,,1,628692,0.0000015906039841448595,0,0,,,8.67,0.400,0.00,0.00,0.609,0.310,0.217,0,17694,0,0,0,43732,0,0,0,20978,0,0,0,36060,0,0,0,53106,0,0,0,4148,0,0,1,350086,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43093408-G-T,17,43093408,rs80357182,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser708Tyr,p.Ser708Tyr,c.2123C>A,missense_variant,Conflicting interpretations of pathogenicity,37447,,61,1613916,0.000037796266968045424,0,0,sas,0.0002925600000000001,0.0390,0.466,0.00,0.00,0.524,0.880,0.0120,0,74924,0,0,1,59968,0,0,0,29600,0,0,0,44884,0,0,0,63990,0,0,1,6084,0,0,19,1180000,0,0,0,910,0,0,36,91076,0,0,4,62480,0,0 +17-43093408-G-A,17,43093408,rs80357182,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser708Phe,p.Ser708Phe,c.2123C>T,missense_variant,Conflicting interpretations of pathogenicity,91576,,25,1461790,0.000017102319758652065,0,0,nfe,0.000014599999999999999,0.222,0.226,0.00,0.00,0.524,1.00,0.00100,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53374,0,0,0,5768,0,0,24,1111984,0,0,,,,,0,86252,0,0,1,60392,0,0 +17-43093411-C-T,17,43093411,rs80357192,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly707Asp,p.Gly707Asp,c.2120G>A,missense_variant,Conflicting interpretations of pathogenicity,54468,,6,1461790,0.000004104556742076495,0,0,afr,0.00005848999999999997,0.557,0.540,0.00,0.00,-1.13,0.0900,0.250,5,33480,0,0,0,44720,0,0,0,26128,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,1,1111974,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43093412-C-T,17,43093412,rs587781420,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly707Ser,p.Gly707Ser,c.2119G>A,missense_variant,,,,2,1461778,0.0000013681968123750666,0,0,,,2.90,0.469,0.00,0.00,-0.00600,0.290,0.395,0,33480,0,0,0,44718,0,0,0,26128,0,0,0,39690,0,0,0,53378,0,0,0,5768,0,0,1,1111972,0,0,,,,,0,86254,0,0,1,60390,0,0 +17-43093412-C-G,17,43093412,rs587781420,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly707Arg,p.Gly707Arg,c.2119G>C,missense_variant,Conflicting interpretations of pathogenicity,140990,,1,152114,0.0000065740168557792186,0,0,,,9.62,0.437,0.00,0.00,-0.00600,,,1,41434,0,0,0,15252,0,0,0,3472,0,0,0,5194,0,0,0,10600,0,0,0,316,0,0,0,68018,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 +17-43093414-G-A,17,43093414,rs759655692,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro706Leu,p.Pro706Leu,c.2117C>T,missense_variant,Conflicting interpretations of pathogenicity,628627,,1,628678,0.0000015906394052281136,0,0,,,21.6,0.330,0.00,0.00,3.74,0.0600,0.783,0,17694,0,0,0,43734,0,0,0,20976,0,0,0,36060,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,1,69794,0,0,0,33092,0,0 +17-43093422-T-C,17,43093422,rs4986844,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr703Thr,p.Thr703Thr,c.2109A>G,synonymous_variant,Benign,54461,,414,1614070,0.00025649445191348576,2,0,afr,0.004616600000000001,3.83,,0.00,0.00,0.628,,,378,75062,2,0,17,60000,0,0,0,29598,0,0,0,44882,0,0,0,64004,0,0,0,6062,0,0,2,1179958,0,0,0,912,0,0,1,91084,0,0,16,62508,0,0 +17-43093423-G-A,17,43093423,rs1302055573,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr703Ile,p.Thr703Ile,c.2108C>T,missense_variant,Conflicting interpretations of pathogenicity,441434,,2,1461726,0.0000013682454851319603,0,0,nfe,2.999999999999999e-7,13.1,0.421,0.00,0.00,2.55,0.0200,0.771,0,33480,0,0,0,44714,0,0,0,26126,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,2,1111940,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43093428-C-T,17,43093428,rs273898677,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys701Lys,p.Lys701Lys,c.2103G>A,synonymous_variant,Likely benign,54459,,1,628662,0.000001590679888397899,0,0,,,0.168,,0.00,0.00,-0.385,,,0,17694,0,0,0,43730,0,0,0,20978,0,0,0,36058,0,0,0,53098,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43093433-G-C,17,43093433,rs775424259,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu700Val,p.Leu700Val,c.2098C>G,missense_variant,Conflicting interpretations of pathogenicity,1330120,,1,628668,0.0000015906647069677476,0,0,,,0.0860,0.598,0.0200,0.0300,0.292,0.270,0.444,0,17694,0,0,1,43728,0,0,0,20980,0,0,0,36058,0,0,0,53104,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69794,0,0,0,33088,0,0 +17-43093434-C-G,17,43093434,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu699Asp,p.Glu699Asp,c.2097G>C,missense_variant,,,,1,833070,0.0000012003793198650773,0,0,,,0.248,0.616,0.00,0.00,0.0110,0.130,0.893,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761866,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43093438-G-A,17,43093438,rs1555590478,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro698Leu,p.Pro698Leu,c.2093C>T,missense_variant,Conflicting interpretations of pathogenicity,482905,,7,1461734,0.000004788832988765398,0,0,nfe,0.00000194,18.9,0.436,0.00,0.00,2.77,0.0600,0.819,0,33480,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53368,0,0,0,5768,0,0,6,1111938,0,0,,,,,0,86252,0,0,1,60392,0,0 +17-43093440-G-A,17,43093440,rs2154399882,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe697Phe,p.Phe697Phe,c.2091C>T,synonymous_variant,,,,1,628666,0.0000015906697674122666,0,0,,,4.60,,0.00,0.00,1.10,,,0,17694,0,0,0,43734,0,0,0,20980,0,0,1,36058,0,0,0,53094,0,0,0,4148,0,0,0,350070,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43093444-G-C,17,43093444,rs1334969117,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ser,p.Thr696Ser,c.2087C>G,missense_variant,,,,1,1461746,6.841133822155149e-7,0,0,,,3.34,0.442,0.00,0.00,0.271,0.200,0.0210,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,1,1111936,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43093444-G-A,17,43093444,rs1334969117,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ile,p.Thr696Ile,c.2087C>T,missense_variant,Conflicting interpretations of pathogenicity,861683,,1,1461746,6.841133822155149e-7,0,0,,,10.7,0.552,0.00,0.00,0.271,0.0300,0.0620,0,33478,0,0,0,44720,0,0,0,26132,0,0,0,39688,0,0,0,53382,0,0,0,5768,0,0,0,1111936,0,0,,,,,1,86252,0,0,0,60390,0,0 +17-43093445-T-C,17,43093445,rs80357441,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr696Ala,p.Thr696Ala,c.2086A>G,missense_variant,Conflicting interpretations of pathogenicity,54457,,1,628688,0.0000015906141042933855,0,0,,,0.150,0.412,0.00,0.00,0.179,1.00,0.00100,0,17694,0,0,0,43732,0,0,0,20978,0,0,0,36058,0,0,0,53114,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69794,0,0,0,33094,0,0 +17-43093448-C-A,17,43093448,rs28897681,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp695Tyr,p.Asp695Tyr,c.2083G>T,missense_variant,Benign,54456,,61,1613910,0.00003779640748244946,0,0,nfe,0.0000315,20.8,0.483,0.00,0.00,0.214,0.0100,0.836,0,74906,0,0,0,59994,0,0,0,29600,0,0,0,44888,0,0,10,63990,0,0,0,6084,0,0,48,1179968,0,0,0,912,0,0,0,91086,0,0,3,62482,0,0 +17-43093448-C-T,17,43093448,rs28897681,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp695Asn,p.Asp695Asn,c.2083G>A,missense_variant,Conflicting interpretations of pathogenicity,54455,,10,1613910,0.0000061961323741720415,0,0,afr,0.000025500000000000003,12.8,0.248,0.00,0.00,0.214,0.100,0.545,5,74906,0,0,0,59994,0,0,0,29600,0,0,0,44888,0,0,0,63990,0,0,0,6084,0,0,2,1179968,0,0,0,912,0,0,0,91086,0,0,3,62482,0,0 +17-43093449-G-A,17,43093449,rs1799949,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser694Ser,p.Ser694Ser,c.2082C>T,synonymous_variant,Benign,125536,,542412,1613688,0.3361318916667906,93409,0,sas,0.4951560099999999,2.62,,0.00,0.00,-0.0510,,,17376,74932,2050,0,19325,59978,3172,0,10816,29602,1961,0,15910,44866,2873,0,25390,63896,5017,0,2239,6058,436,0,384522,1179890,62596,0,258,904,40,0,45439,91060,11643,0,21137,62502,3621,0 +17-43093449-G-C,17,43093449,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Arg,p.Ser694Arg,c.2082C>G,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,15.3,0.542,0.00,0.00,-0.0510,0.0400,0.531,0,33480,0,0,0,44712,0,0,0,26132,0,0,1,39688,0,0,0,53374,0,0,0,5768,0,0,0,1111970,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093450-C-T,17,43093450,rs431825388,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Asn,p.Ser694Asn,c.2081G>A,missense_variant,Conflicting interpretations of pathogenicity,96904,,5,1461742,0.000003420576271325583,0,0,nfe,0.0000013199999999999999,7.08,0.420,0.00,0.00,-0.0570,0.150,0.199,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,5,1111932,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43093451-T-A,17,43093451,rs2154400472,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser694Cys,p.Ser694Cys,c.2080A>T,missense_variant,,,,1,833064,0.0000012003879653904143,0,0,,,17.0,0.442,0.00,0.00,-0.437,0.00,0.967,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761860,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43093453-T-C,17,43093453,rs756748588,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp693Gly,p.Asp693Gly,c.2078A>G,missense_variant,Conflicting interpretations of pathogenicity,630129,,13,628674,0.000020678443835755892,0,0,,,6.95,0.388,0.00,0.00,0.540,0.0600,0.00,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36058,0,0,12,53110,0,0,0,4148,0,0,1,350068,0,0,,,,,0,69788,0,0,0,33092,0,0 +17-43093454-CAT-C,17,43093454,rs397508936,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His692ArgfsTer19,p.His692ArgfsTer19,c.2075_2076del,frameshift_variant,Pathogenic,54452,lof_flag,1,1461746,6.841133822155149e-7,0,0,,,18.7,,0.00,0.00,-0.313,,,0,33480,0,0,0,44720,0,0,0,26130,0,0,1,39688,0,0,0,53376,0,0,0,5768,0,0,0,1111948,0,0,,,,,0,86244,0,0,0,60392,0,0 +17-43093454-C-T,17,43093454,rs4986850,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp693Asn,p.Asp693Asn,c.2077G>A,missense_variant,Benign,41808,,112589,1613950,0.0697599058211221,4445,0,nfe,0.07772215,16.0,0.126,0.00,0.00,-0.313,0.0800,0.0100,1736,75020,27,0,2426,60016,64,0,2707,29598,136,0,7,44878,1,0,5615,63962,273,0,451,6062,22,0,92206,1179928,3650,0,43,912,0,0,3254,91070,101,0,4144,62504,171,0 +17-43093455-A-T,17,43093455,rs587782595,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His692Gln,p.His692Gln,c.2076T>A,missense_variant,Conflicting interpretations of pathogenicity,142622,,4,1461752,0.0000027364422966412906,0,0,nfe,8.4e-7,4.31,0.558,0.00,0.00,-0.408,0.320,0.102,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,4,1111948,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43093456-T-C,17,43093456,rs2053831947,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His692Arg,p.His692Arg,c.2075A>G,missense_variant,Conflicting interpretations of pathogenicity,1785447,,5,1613960,0.0000030979702099184616,0,0,nfe,7.899999999999998e-7,0.616,0.462,0.00,0.00,-1.32,0.380,0.0380,0,74936,0,0,0,59998,0,0,0,29594,0,0,0,44888,0,0,1,64002,0,0,0,6084,0,0,4,1179974,0,0,0,912,0,0,0,91088,0,0,0,62484,0,0 +17-43093457-G-A,17,43093457,rs545736576,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His692Tyr,p.His692Tyr,c.2074C>T,missense_variant,Conflicting interpretations of pathogenicity,433700,,13,1614012,0.000008054463039927831,0,0,sas,0.00007505999999999999,0.437,0.473,0.00,0.00,-0.0870,1.00,0.0620,0,75036,0,0,1,59996,0,0,0,29598,0,0,0,44878,0,0,0,63984,0,0,0,6060,0,0,0,1179960,0,0,0,912,0,0,12,91080,0,0,0,62508,0,0 +17-43093459-CT-C,17,43093459,rs80357688,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg691AspfsTer10,p.Arg691AspfsTer10,c.2071del,frameshift_variant,Pathogenic,37444,lof_flag,5,1461742,0.000003420576271325583,0,0,nfe,0.0000013199999999999999,22.7,,0.00,0.0100,0.306,,,0,33480,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53370,0,0,0,5768,0,0,5,1111946,0,0,,,,,0,86248,0,0,0,60390,0,0 +17-43093462-T-C,17,43093462,rs2154401162,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys690Arg,p.Lys690Arg,c.2069A>G,missense_variant,Conflicting interpretations of pathogenicity,1395723,,2,833080,0.000002400729821865847,0,0,nfe,4.4e-7,16.2,0.464,0.00,0.00,0.931,0.160,0.819,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761876,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43093463-T-C,17,43093463,rs587781448,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys690Glu,p.Lys690Glu,c.2068A>G,missense_variant,Conflicting interpretations of pathogenicity,141034,,4,1461766,0.0000027364160884847507,0,0,eas,0.00002004,15.6,0.556,0.00,0.00,0.672,0.190,0.773,0,33480,0,0,0,44718,0,0,0,26128,0,0,3,39688,0,0,0,53388,0,0,0,5768,0,0,1,1111956,0,0,,,,,0,86250,0,0,0,60390,0,0 +17-43093465-C-T,17,43093465,rs779748579,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser689Asn,p.Ser689Asn,c.2066G>A,missense_variant,Conflicting interpretations of pathogenicity,1720073,,1,628678,0.0000015906394052281136,0,0,,,0.250,0.261,0.00,0.00,0.168,0.710,0.00900,0,17694,0,0,0,43734,0,0,0,20980,0,0,0,36056,0,0,0,53104,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69792,0,0,0,33094,0,0 +17-43093466-T-C,17,43093466,rs876660188,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser689Gly,p.Ser689Gly,c.2065A>G,missense_variant,Conflicting interpretations of pathogenicity,233092,,2,1461766,0.0000013682080442423753,0,0,nfe,2.999999999999999e-7,12.3,0.355,0.0700,0.0900,1.74,0.200,0.0200,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39688,0,0,0,53388,0,0,0,5768,0,0,2,1111952,0,0,,,,,0,86248,0,0,0,60392,0,0 +17-43093469-T-C,17,43093469,rs1597872432,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr688Ala,p.Thr688Ala,c.2062A>G,missense_variant,Conflicting interpretations of pathogenicity,820629,,4,1461772,0.0000027364048565713394,0,0,nfe,8.4e-7,7.23,0.364,0.0500,0.130,0.0710,0.490,0.0620,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39688,0,0,0,53386,0,0,0,5766,0,0,4,1111964,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093471-T-G,17,43093471,rs28897680,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln687Pro,p.Gln687Pro,c.2060A>C,missense_variant,Conflicting interpretations of pathogenicity,37443,,82,1614138,0.000050801108703221165,0,0,nfe,0.00005381,21.4,0.531,0.00,0.00,1.03,0.0100,0.519,2,75064,0,0,0,60014,0,0,0,29602,0,0,0,44882,0,0,0,64010,0,0,0,6062,0,0,78,1180006,0,0,0,912,0,0,0,91080,0,0,2,62506,0,0 +17-43093473-T-A,17,43093473,rs1262148583,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu686Asp,p.Glu686Asp,c.2058A>T,missense_variant,Conflicting interpretations of pathogenicity,619622,,1,628684,0.0000015906242245706906,0,0,,,15.2,0.519,0.00,0.00,0.564,0.0800,0.838,0,17694,0,0,1,43732,0,0,0,20980,0,0,0,36060,0,0,0,53108,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43093476-A-T,17,43093476,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Lys,p.Asn685Lys,c.2055T>A,missense_variant,,,,3,1461790,0.0000020522783710382476,0,0,nfe,7.200000000000001e-7,5.73,0.379,0.00,0.00,-0.0870,0.100,0.178,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53384,0,0,0,5768,0,0,3,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093476-A-G,17,43093476,rs1555590600,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Asn,p.Asn685Asn,c.2055T>C,synonymous_variant,Likely benign,485389,,1,1461790,6.840927903460826e-7,0,0,,,2.19,,0.00,0.00,-0.0870,,,0,33480,0,0,0,44716,0,0,0,26130,0,0,1,39690,0,0,0,53384,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093477-T-A,17,43093477,rs2154401896,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn685Ile,p.Asn685Ile,c.2054A>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,19.4,0.367,0.00,0.00,-0.144,0.0200,0.781,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093479-T-G,17,43093479,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro684Pro,p.Pro684Pro,c.2052A>C,synonymous_variant,,,,1,628684,0.0000015906242245706906,0,0,,,8.98,,0.00,0.00,0.481,,,0,17694,0,0,0,43736,0,0,0,20978,0,0,0,36060,0,0,0,53104,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43093479-T-C,17,43093479,rs2053836204,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro684Pro,p.Pro684Pro,c.2052A>G,synonymous_variant,,,,1,152238,0.0000065686622262510016,0,0,,,9.27,,0.00,0.00,0.481,,,0,41468,0,0,0,15268,0,0,0,3468,0,0,0,5206,0,0,0,10632,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,1,4836,0,0,0,2088,0,0 +17-43093481-G-A,17,43093481,rs397508934,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro684Ser,p.Pro684Ser,c.2050C>T,missense_variant,Conflicting interpretations of pathogenicity,54447,,24,1613914,0.000014870680841730104,0,0,nfe,0.00001298,11.3,0.488,0.00,0.00,1.50,0.120,0.137,1,74910,0,0,0,59978,0,0,0,29600,0,0,0,44892,0,0,0,63986,0,0,0,6084,0,0,23,1179994,0,0,0,912,0,0,0,91078,0,0,0,62480,0,0 +17-43093482-C-T,17,43093482,rs778215185,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys683Lys,p.Lys683Lys,c.2049G>A,synonymous_variant,Likely benign,427345,,4,780882,0.0000051224128613542125,0,0,sas,0.000017510000000000003,4.68,,0.00,0.00,-0.00700,,,0,59156,0,0,0,59004,0,0,0,24450,0,0,0,41264,0,0,0,63710,0,0,0,4464,0,0,0,418110,0,0,0,912,0,0,4,74630,0,0,0,35182,0,0 +17-43093483-T-C,17,43093483,rs1060502357,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys683Arg,p.Lys683Arg,c.2048A>G,missense_variant,Conflicting interpretations of pathogenicity,409357,,7,1614028,0.000004336975566718793,0,0,eas,0.00001772,21.1,0.526,0.00,0.00,1.05,0.0300,0.250,4,74948,0,0,0,59986,0,0,0,29600,0,0,3,44894,0,0,0,64012,0,0,0,6084,0,0,0,1180022,0,0,0,912,0,0,0,91086,0,0,0,62484,0,0 +17-43093485-G-T,17,43093485,rs2154402217,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn682Lys,p.Asn682Lys,c.2046C>A,missense_variant,,,,1,1461768,6.841030861258421e-7,0,0,,,0.0140,0.364,0.00,0.00,-1.34,0.240,0.425,0,33480,0,0,0,44716,0,0,0,26130,0,0,0,39690,0,0,0,53364,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43093488-A-C,17,43093488,rs143920945,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser681Arg,p.Ser681Arg,c.2043T>G,missense_variant,Conflicting interpretations of pathogenicity,230089,,1,151838,0.000006585966622321158,0,0,,,2.60,0.530,0.00,0.00,0.128,,,1,41306,0,0,0,15242,0,0,0,3470,0,0,0,5180,0,0,0,10568,0,0,0,316,0,0,0,67946,0,0,0,912,0,0,0,4808,0,0,0,2090,0,0 +17-43093489-CTCT-C,17,43093489,rs1597872534,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys680del,p.Lys680del,c.2039_2041del,inframe_deletion,Uncertain significance,820571,,1,1461788,6.840937263132548e-7,0,0,,,8.13,,0.00,0.00,-0.169,,,0,33480,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53374,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093489-C-T,17,43093489,rs1452826319,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser681Asn,p.Ser681Asn,c.2042G>A,missense_variant,Conflicting interpretations of pathogenicity,630466,,3,1461788,0.0000020522811789397644,0,0,nfe,2.999999999999999e-7,0.314,0.310,0.00,0.00,-0.169,0.490,0.0130,1,33480,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53374,0,0,0,5768,0,0,2,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093494-C-T,17,43093494,rs572835027,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys679Lys,p.Lys679Lys,c.2037G>A,synonymous_variant,Likely benign,427303,,2,152306,0.000013131459036413535,0,0,eas,0.00006817999999999999,1.56,,0.0100,0.0100,0.178,,,0,41558,0,0,0,15286,0,0,0,3472,0,0,2,5192,0,0,0,10626,0,0,0,294,0,0,0,68024,0,0,0,912,0,0,0,4830,0,0,0,2112,0,0 +17-43093496-T-A,17,43093496,rs80357082,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys679Ter,p.Lys679Ter,c.2035A>T,stop_gained,Pathogenic,54442,lof_flag,4,1461786,0.000002736378649131952,0,0,nfe,8.4e-7,34.0,,0.00,0.00,-0.156,,,0,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,4,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093496-T-G,17,43093496,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys679Gln,p.Lys679Gln,c.2035A>C,missense_variant,,,,1,1461786,6.84094662282988e-7,0,0,,,16.7,0.461,0.00,0.00,-0.156,0.0100,0.854,1,33480,0,0,0,44720,0,0,0,26130,0,0,0,39690,0,0,0,53370,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093505-T-C,17,43093505,rs1268006720,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr676Ala,p.Thr676Ala,c.2026A>G,missense_variant,Conflicting interpretations of pathogenicity,926207,,1,833110,0.0000012003216862119048,0,0,,,0.702,0.541,0.00,0.00,-4.03,0.530,0.0130,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093507-GCAGGTT-G,17,43093507,rs879254165,GCAGGTT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu673_Pro674del,p.Glu673_Pro674del,c.2018_2023del,inframe_deletion,Uncertain significance,246230,,2,1461742,0.000001368230508530233,0,0,,,14.8,,0.0100,0.00,1.22,,,0,33480,0,0,1,44718,0,0,0,26134,0,0,0,39690,0,0,0,53328,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86254,0,0,1,60392,0,0 +17-43093508-C-T,17,43093508,rs1597872640,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala675Thr,p.Ala675Thr,c.2023G>A,missense_variant,Conflicting interpretations of pathogenicity,656387,,1,628642,0.0000015907304952580323,0,0,,,0.0450,0.496,0.00,0.00,-1.74,0.410,0.137,0,17694,0,0,0,43732,0,0,0,20982,0,0,0,36060,0,0,0,53060,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43093509-A-C,17,43093509,rs771519405,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro674Pro,p.Pro674Pro,c.2022T>G,synonymous_variant,Likely benign,231336,,3,628646,0.000004772161120885204,0,0,,,4.18,,0.00,0.00,-0.388,,,0,17694,0,0,0,43734,0,0,0,20982,0,0,0,36060,0,0,0,53060,0,0,2,4148,0,0,0,350082,0,0,,,,,1,69794,0,0,0,33092,0,0 +17-43093513-T-A,17,43093513,rs2154403692,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu673Val,p.Glu673Val,c.2018A>T,missense_variant,,,,1,833082,0.0000012003620291880032,0,0,,,23.8,0.784,0.0100,0.0100,1.75,0.00,0.989,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761880,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43093515-T-C,17,43093515,rs776542749,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys672Lys,p.Lys672Lys,c.2016A>G,synonymous_variant,Likely benign,427319,,2,1461750,0.0000013682230203523174,0,0,,,4.22,,0.0300,0.0500,1.77,,,0,33480,0,0,0,44720,0,0,0,26134,0,0,1,39688,0,0,0,53334,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093517-T-C,17,43093517,rs397508929,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys672Glu,p.Lys672Glu,c.2014A>G,missense_variant,Conflicting interpretations of pathogenicity,186344,,1,628654,0.0000015907001307555508,0,0,,,2.31,0.604,0.00,0.00,0.386,0.600,0.0600,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53060,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093523-C-T,17,43093523,rs80357029,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu670Lys,p.Glu670Lys,c.2008G>A,missense_variant,Conflicting interpretations of pathogenicity,54433,,4,628630,0.000006363043443679112,0,0,amr,0.000030320000000000004,7.79,0.532,0.00,0.00,2.27,0.330,0.219,0,17694,0,0,4,43738,0,0,0,20982,0,0,0,36058,0,0,0,53038,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093525-A-G,17,43093525,rs80356895,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met669Thr,p.Met669Thr,c.2006T>C,missense_variant,Conflicting interpretations of pathogenicity,37442,,17,1613980,0.000010532968190436064,0,0,eas,0.00022321999999999997,0.0500,0.778,0.00,0.00,-3.89,0.500,0.0600,0,75050,0,0,0,60004,0,0,0,29600,0,0,16,44856,0,0,0,63920,0,0,0,6062,0,0,0,1179996,0,0,0,912,0,0,1,91078,0,0,0,62502,0,0 +17-43093526-T-G,17,43093526,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met669Leu,p.Met669Leu,c.2005A>C,missense_variant,Conflicting interpretations of pathogenicity,1784306,,2,1461736,0.0000013682361247174592,0,0,,,0.0190,0.448,0.00,0.00,-6.47,0.650,0.0280,0,33480,0,0,0,44720,0,0,0,26134,0,0,0,39686,0,0,0,53318,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43093526-T-C,17,43093526,rs561988641,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met669Val,p.Met669Val,c.2005A>G,missense_variant,Conflicting interpretations of pathogenicity,933240,,6,1614074,0.0000037173016850528536,0,0,sas,0.000028630000000000002,0.0630,0.546,0.00,0.00,-6.47,0.240,0.0600,0,75062,0,0,0,60020,0,0,0,29606,0,0,0,44874,0,0,0,63938,0,0,0,6062,0,0,0,1180012,0,0,0,910,0,0,6,91084,0,0,0,62506,0,0 +17-43093527-G-T,17,43093527,rs1057520832,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu668Leu,p.Leu668Leu,c.2004C>A,synonymous_variant,Likely benign,380354,,11,1613898,0.0000068157962894805,0,0,nfe,0.000005,0.693,,0.00,0.00,0.139,,,0,74912,0,0,0,59992,0,0,0,29606,0,0,0,44886,0,0,0,63922,0,0,0,6084,0,0,11,1180028,0,0,0,910,0,0,0,91078,0,0,0,62480,0,0 +17-43093529-G-A,17,43093529,rs80357250,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu668Phe,p.Leu668Phe,c.2002C>T,missense_variant,Benign,37441,,86,1614010,0.00005328343690559538,0,0,amr,0.00007731999999999998,4.68,0.487,0.00,0.00,0.162,0.0800,0.679,2,75042,0,0,9,60004,0,0,0,29606,0,0,0,44876,0,0,0,63916,0,0,0,6062,0,0,74,1180010,0,0,0,912,0,0,0,91078,0,0,1,62504,0,0 +17-43093533-T-C,17,43093533,rs864622452,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu666Leu,p.Leu666Leu,c.1998A>G,synonymous_variant,Likely benign,220277,,13,1613952,0.000008054762471250694,0,0,nfe,0.00000429,0.821,,0.00,0.00,0.0320,,,0,74942,0,0,1,59994,0,0,0,29602,0,0,0,44890,0,0,1,63928,0,0,0,6084,0,0,10,1180026,0,0,0,912,0,0,1,91092,0,0,0,62482,0,0 +17-43093535-G-C,17,43093535,rs1555590709,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu666Val,p.Leu666Val,c.1996C>G,missense_variant,Conflicting interpretations of pathogenicity,482892,,1,1461702,6.841339753246558e-7,0,0,,,6.59,0.459,0.00,0.00,1.21,0.0500,0.627,0,33480,0,0,1,44718,0,0,0,26134,0,0,0,39686,0,0,0,53292,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43093535-G-T,17,43093535,rs1555590709,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu666Ile,p.Leu666Ile,c.1996C>A,missense_variant,Conflicting interpretations of pathogenicity,1198624,,1,1461702,6.841339753246558e-7,0,0,,,16.8,0.434,0.00,0.00,1.21,0.0200,0.942,0,33480,0,0,0,44718,0,0,0,26134,0,0,0,39686,0,0,0,53292,0,0,1,5768,0,0,0,1111980,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43093540-C-G,17,43093540,rs2154405778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg664Thr,p.Arg664Thr,c.1991G>C,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,13.8,0.557,0.00,0.00,0.328,0.0200,0.292,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093542-G-A,17,43093542,rs1597872888,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser663Ser,p.Ser663Ser,c.1989C>T,synonymous_variant,Likely benign,792410,,1,833108,0.0000012003245677631232,0,0,,,4.32,,0.00,0.00,0.689,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093547-G-A,17,43093547,rs397508927,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His662Tyr,p.His662Tyr,c.1984C>T,missense_variant,Conflicting interpretations of pathogenicity,54426,,4,833108,0.000004801298271052493,0,0,nfe,0.0000012299999999999999,16.3,0.564,0.00,0.0100,1.79,0.110,0.934,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093551-G-C,17,43093551,rs762772420,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val660Val,p.Val660Val,c.1980C>G,synonymous_variant,,,,2,628604,0.0000031816533143282577,0,0,amr,0.000007580000000000001,4.72,,0.00,0.00,0.378,,,0,17692,0,0,2,43736,0,0,0,20980,0,0,0,36060,0,0,0,53026,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69790,0,0,0,33092,0,0 +17-43093553-C-T,17,43093553,rs876660889,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val660Ile,p.Val660Ile,c.1978G>A,missense_variant,Conflicting interpretations of pathogenicity,234157,,12,1461732,0.000008209439213207346,0,0,nfe,0.00000531,5.84,0.375,0.00,0.00,-0.0960,0.220,0.168,0,33478,0,0,1,44718,0,0,0,26132,0,0,0,39690,0,0,0,53318,0,0,0,5768,0,0,11,1111986,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43093554-T-C,17,43093554,rs764009120,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Pro,p.Pro659Pro,c.1977A>G,synonymous_variant,Likely benign,1126493,,1,628620,0.0000015907861665234959,0,0,,,7.13,,0.00,0.00,-0.125,,,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36058,0,0,0,53040,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43093555-G-C,17,43093555,rs1258526903,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Arg,p.Pro659Arg,c.1976C>G,missense_variant,Conflicting interpretations of pathogenicity,1004775,,1,628594,0.0000015908519648612617,0,0,,,17.7,0.523,0.00,0.00,3.28,0.120,0.838,0,17690,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53014,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43093556-G-C,17,43093556,rs587776481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Ala,p.Pro659Ala,c.1975C>G,missense_variant,Conflicting interpretations of pathogenicity,156185,,2,1461690,0.000001368279183684639,0,0,nfe,2.999999999999999e-7,18.8,0.470,0.00,0.00,2.73,0.0200,0.838,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39690,0,0,0,53282,0,0,0,5768,0,0,2,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093556-G-A,17,43093556,rs587776481,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro659Ser,p.Pro659Ser,c.1975C>T,missense_variant,Conflicting interpretations of pathogenicity,2177977,,1,1461690,6.841395918423195e-7,0,0,,,22.7,0.477,0.00,0.00,2.73,0.0500,0.842,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39690,0,0,0,53282,0,0,1,5768,0,0,0,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093557-C-G,17,43093557,rs55678461,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met658Ile,p.Met658Ile,c.1974G>C,missense_variant,Conflicting interpretations of pathogenicity,54425,,72,1613890,0.00004461270594650193,1,0,nfe,0.00000292,0.0780,0.429,0.00,0.00,-0.547,0.390,0.0170,0,74922,0,0,0,59980,0,0,58,29604,1,0,0,44890,0,0,0,63912,0,0,0,6084,0,0,8,1180016,0,0,0,912,0,0,0,91082,0,0,6,62488,0,0 +17-43093558-A-G,17,43093558,rs2053849833,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met658Thr,p.Met658Thr,c.1973T>C,missense_variant,,,,3,1613838,0.0000018589226427931429,0,0,,,4.14,0.411,0.00,0.00,0.00200,0.490,0.0290,1,74890,0,0,0,59982,0,0,0,29604,0,0,0,44886,0,0,0,63900,0,0,0,6084,0,0,2,1180008,0,0,0,910,0,0,0,91088,0,0,0,62486,0,0 +17-43093560-T-C,17,43093560,rs28897679,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln657Gln,p.Gln657Gln,c.1971A>G,synonymous_variant,Benign,54424,,1927,1614028,0.0011939074167238734,19,0,afr,0.02226539,1.62,,0.00,0.0100,-0.453,,,1739,75048,19,0,58,60004,0,0,0,29602,0,0,0,44878,0,0,0,63940,0,0,2,6062,0,0,22,1179996,0,0,0,912,0,0,10,91082,0,0,96,62504,0,0 +17-43093561-T-A,17,43093561,rs2053850502,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln657Leu,p.Gln657Leu,c.1970A>T,missense_variant,,,,1,628648,0.0000015907153128618877,0,0,,,17.7,0.547,0.00,0.00,0.251,0.0100,0.733,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36060,0,0,0,53064,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093563-G-A,17,43093563,rs1131692075,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn656Asn,p.Asn656Asn,c.1968C>T,synonymous_variant,Likely benign,427260,,1,833104,0.0000012003303309070656,0,0,,,0.652,,0.00,0.00,0.235,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093563-G-C,17,43093563,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn656Lys,p.Asn656Lys,c.1968C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,4.68,0.361,0.00,0.00,0.235,0.190,0.145,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093566-G-A,17,43093566,rs886039987,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Tyr,p.Tyr655Tyr,c.1965C>T,synonymous_variant,Likely benign,1085025,,2,833106,0.0000024006548986563534,0,0,,,0.0760,,0.00,0.00,-0.320,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43093567-T-A,17,43093567,rs80357193,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Phe,p.Tyr655Phe,c.1964A>T,missense_variant,Likely benign,54421,,1,628638,0.0000015907406170164705,0,0,,,1.98,0.329,0.00,0.00,1.01,0.0600,0.0210,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36060,0,0,0,53054,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093568-A-T,17,43093568,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Asn,p.Tyr655Asn,c.1963T>A,missense_variant,,,,1,628608,0.000001590816534310731,0,0,,,7.14,0.443,0.0100,0.00,0.0920,0.110,0.145,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093568-A-C,17,43093568,rs80357166,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655Asp,p.Tyr655Asp,c.1963T>G,missense_variant,Likely benign,54418,,1,628608,0.000001590816534310731,0,0,,,12.4,0.440,0.0100,0.0100,0.0920,0.0200,0.0100,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36052,0,0,0,53036,0,0,0,4148,0,0,1,350074,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093569-C-CT,17,43093569,rs80357522,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr655ValfsTer18,p.Tyr655ValfsTer18,c.1961dup,frameshift_variant,Pathogenic,54417,lof_flag,10,1461676,0.000006841461445628169,0,0,sas,0.00002995,13.7,,0.00,0.00,-0.0290,,,0,33478,0,0,0,44718,0,0,0,26132,0,0,0,39686,0,0,0,53282,0,0,0,5768,0,0,4,1111970,0,0,,,,,6,86248,0,0,0,60394,0,0 +17-43093569-CT-C,17,43093569,rs80357522,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys654SerfsTer47,p.Lys654SerfsTer47,c.1961del,frameshift_variant,Pathogenic,37438,lof_flag,10,1613680,0.000006197015517326855,0,0,nfe,0.0000035900000000000004,8.63,,0.00,0.00,-0.0290,,,0,74876,0,0,0,59938,0,0,0,29598,0,0,0,44878,0,0,0,63876,0,0,0,6084,0,0,9,1179968,0,0,0,908,0,0,0,91074,0,0,1,62480,0,0 +17-43093569-CTTTT-C,17,43093569,rs80357522,CTTTT,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys653SerfsTer47,p.Lys653SerfsTer47,c.1958_1961del,frameshift_variant,Pathogenic,54413,lof_flag,1,152002,0.0000065788608044630995,0,0,,,16.3,,0.00,0.00,-0.0290,,,1,41398,0,0,0,15220,0,0,0,3466,0,0,0,5192,0,0,0,10592,0,0,0,316,0,0,0,67998,0,0,0,908,0,0,0,4826,0,0,0,2086,0,0 +17-43093571-T-A,17,43093571,rs80357355,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys654Ter,p.Lys654Ter,c.1960A>T,stop_gained,Pathogenic,37436,lof_flag,1,152188,0.000006570820301206403,0,0,,,29.7,,0.00,0.00,-0.279,,,0,41456,0,0,0,15270,0,0,0,3470,0,0,0,5194,0,0,0,10620,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43093571-T-G,17,43093571,rs80357355,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys654Gln,p.Lys654Gln,c.1960A>C,missense_variant,Conflicting interpretations of pathogenicity,572395,,4,1461758,0.0000027364310645127304,0,0,amr,0.000007410000000000001,8.77,0.509,0.00,0.00,-0.279,0.0400,0.0100,0,33478,0,0,2,44722,0,0,0,26132,0,0,0,39690,0,0,0,53346,0,0,0,5768,0,0,2,1111974,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093572-T-C,17,43093572,rs767530204,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys653Lys,p.Lys653Lys,c.1959A>G,synonymous_variant,Likely benign,186453,,4,780852,0.000005122609662266345,0,0,nfe,0.0000032400000000000003,0.386,,0.00,0.0100,-0.510,,,0,59152,0,0,0,59002,0,0,0,24450,0,0,0,41260,0,0,0,63686,0,0,0,4464,0,0,4,418114,0,0,0,912,0,0,0,74622,0,0,0,35190,0,0 +17-43093574-TTTTC-T,17,43093574,rs80357526,TTTTC,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys653SerfsTer47,p.Lys653SerfsTer47,c.1953_1956del,frameshift_variant,Pathogenic,37435,lof_flag,5,1613952,0.0000030979855658656514,0,0,nfe,0.0000012399999999999998,20.4,,0.00,0.00,-0.194,,,0,74918,0,0,0,59996,0,0,0,29604,0,0,0,44890,0,0,0,63976,0,0,0,6082,0,0,5,1180000,0,0,0,912,0,0,0,91086,0,0,0,62488,0,0 +17-43093577-T-C,17,43093577,rs1567797589,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys652Glu,p.Lys652Glu,c.1954A>G,missense_variant,Conflicting interpretations of pathogenicity,628623,,1,1461744,6.84114318239035e-7,0,0,,,1.07,0.393,0.00,0.00,-0.861,0.270,0.449,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53338,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093577-T-TC,17,43093577,rs80357753,T,TC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys652GlufsTer21,p.Lys652GlufsTer21,c.1953dup,frameshift_variant,Pathogenic,54412,lof_flag,2,1461744,0.00000136822863647807,0,0,nfe,2.999999999999999e-7,20.6,,0.00,0.00,-0.861,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53338,0,0,0,5768,0,0,2,1111966,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093581-T-A,17,43093581,rs1060504579,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile650Ile,p.Ile650Ile,c.1950A>T,synonymous_variant,Likely benign,415585,,1,628624,0.0000015907760441853954,0,0,,,0.620,,0.00,0.00,-0.766,,,0,17690,0,0,1,43736,0,0,0,20978,0,0,0,36056,0,0,0,53068,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093582-A-C,17,43093582,rs1555590816,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile650Arg,p.Ile650Arg,c.1949T>G,missense_variant,Conflicting interpretations of pathogenicity,479216,,1,628612,0.0000015908064115861614,0,0,,,7.30,0.520,0.00,0.00,-0.340,0.0300,0.0260,0,17686,0,0,0,43734,0,0,0,20980,0,0,0,36056,0,0,0,53062,0,0,0,4148,0,0,1,350066,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43093583-T-C,17,43093583,rs749896277,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile650Val,p.Ile650Val,c.1948A>G,missense_variant,Conflicting interpretations of pathogenicity,1783156,,1,152192,0.000006570647603027754,0,0,,,0.146,0.346,0.00,0.0100,0.219,,,0,41452,0,0,0,15270,0,0,0,3470,0,0,1,5200,0,0,0,10616,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43093584-C-T,17,43093584,rs755706172,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu649Glu,p.Glu649Glu,c.1947G>A,synonymous_variant,Likely benign,427348,,2,628620,0.0000031815723330469918,0,0,,,2.94,,0.00,0.00,1.20,,,1,17688,0,0,1,43732,0,0,0,20978,0,0,0,36056,0,0,0,53070,0,0,0,4148,0,0,0,350062,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093586-C-G,17,43093586,rs80356907,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu649Gln,p.Glu649Gln,c.1945G>C,missense_variant,Conflicting interpretations of pathogenicity,54407,,4,628630,0.000006363043443679112,0,0,nfe,0.0000036699999999999996,24.4,0.710,0.00,0.00,7.14,0.00,0.999,0,17688,0,0,0,43736,0,0,0,20980,0,0,0,36058,0,0,0,53078,0,0,0,4148,0,0,4,350060,0,0,,,,,0,69786,0,0,0,33096,0,0 +17-43093587-T-C,17,43093587,rs876660781,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu648Glu,p.Glu648Glu,c.1944A>G,synonymous_variant,Likely benign,233993,,12,1613938,0.000007435229853934909,0,0,nfe,0.00000542,8.41,,0.00,0.00,0.172,,,0,74916,0,0,0,59976,0,0,0,29602,0,0,0,44890,0,0,0,63986,0,0,0,6084,0,0,12,1180002,0,0,0,912,0,0,0,91086,0,0,0,62484,0,0 +17-43093594-C-T,17,43093594,rs2053857094,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser646Asn,p.Ser646Asn,c.1937G>A,missense_variant,Conflicting interpretations of pathogenicity,925846,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,24.1,0.772,0.00,0.00,8.90,0.0100,0.950,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093595-T-C,17,43093595,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser646Gly,p.Ser646Gly,c.1936A>G,missense_variant,,,,2,1461778,0.0000013681968123750666,0,0,nfe,2.999999999999999e-7,24.9,0.808,0.00,0.00,2.99,0.0100,0.799,0,33476,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53378,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43093597-G-T,17,43093597,rs80357129,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser645Tyr,p.Ser645Tyr,c.1934C>A,missense_variant,Conflicting interpretations of pathogenicity,54404,,3,1461748,0.0000020523373385836683,0,0,nfe,7.200000000000001e-7,24.0,0.654,0.00,0.00,3.43,0.0100,0.971,0,33474,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53358,0,0,0,5768,0,0,3,1111974,0,0,,,,,0,86248,0,0,0,60392,0,0 +17-43093597-G-C,17,43093597,rs80357129,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser645Cys,p.Ser645Cys,c.1934C>G,missense_variant,Conflicting interpretations of pathogenicity,531244,,1,1461748,6.841124461945561e-7,0,0,,,23.9,0.638,0.00,0.00,3.43,0.0200,0.971,1,33474,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53358,0,0,0,5768,0,0,0,1111974,0,0,,,,,0,86248,0,0,0,60392,0,0 +17-43093601-A-T,17,43093601,rs753521391,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys644Ser,p.Cys644Ser,c.1930T>A,missense_variant,Conflicting interpretations of pathogenicity,409347,,8,1461778,0.000005472787249500266,1,0,eas,0.00009930999999999997,18.4,0.549,0.00,0.00,1.80,0.240,0.178,0,33472,0,0,0,44716,0,0,0,26132,0,0,8,39688,1,0,0,53384,0,0,0,5768,0,0,0,1111984,0,0,,,,,0,86244,0,0,0,60390,0,0 +17-43093602-A-G,17,43093602,rs1060502361,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser643Ser,p.Ser643Ser,c.1929T>C,synonymous_variant,Likely benign,1782823,,1,628672,0.0000015906545861753029,0,0,,,6.69,,0.00,0.00,0.0180,,,0,17688,0,0,0,43732,0,0,0,20980,0,0,0,36058,0,0,0,53110,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43093603-C-A,17,43093603,rs876660335,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser643Ile,p.Ser643Ile,c.1928G>T,missense_variant,Conflicting interpretations of pathogenicity,233327,,8,1461782,0.000005472772273841106,0,0,nfe,0.0000026200000000000003,22.9,0.759,0.0100,0.120,0.706,0.00,0.985,0,33476,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53386,0,0,0,5768,0,0,7,1111980,0,0,,,,,0,86244,0,0,1,60392,0,0 +17-43093607-C-G,17,43093607,rs80357344,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp642His,p.Asp642His,c.1924G>C,missense_variant,Benign,54401,,15,1613906,0.000009294221596548993,0,0,nfe,0.00000542,23.8,0.662,0.00,0.0100,3.52,0.0100,0.945,0,74882,0,0,0,59988,0,0,0,29602,0,0,0,44886,0,0,0,63990,0,0,0,6084,0,0,12,1180002,0,0,0,912,0,0,0,91076,0,0,3,62484,0,0 +17-43093609-A-G,17,43093609,rs730881474,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile641Thr,p.Ile641Thr,c.1922T>C,missense_variant,Conflicting interpretations of pathogenicity,182138,,14,1613838,0.000008674972333034667,0,0,nfe,0.00000615,23.0,0.803,0.00,0.00,1.01,0.0600,0.927,0,74854,0,0,0,59974,0,0,0,29602,0,0,0,44880,0,0,0,63988,0,0,0,6084,0,0,13,1179990,0,0,0,912,0,0,0,91072,0,0,1,62482,0,0 +17-43093611-T-A,17,43093611,rs587782843,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln640His,p.Gln640His,c.1920A>T,missense_variant,Conflicting interpretations of pathogenicity,142950,,4,780864,0.000005122530940086878,0,0,afr,0.00001347,19.4,0.633,0.00,0.0100,-0.664,0.0100,0.495,3,59128,0,0,0,59000,0,0,0,24448,0,0,0,41256,0,0,0,63736,0,0,0,4464,0,0,1,418110,0,0,0,912,0,0,0,74624,0,0,0,35186,0,0 +17-43093614-C-T,17,43093614,rs786202103,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Leu,p.Leu639Leu,c.1917G>A,synonymous_variant,Likely benign,185345,,1,833108,0.0000012003245677631232,0,0,,,0.901,,0.00,0.00,-0.210,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093616-A-G,17,43093616,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Leu,p.Leu639Leu,c.1915T>C,synonymous_variant,,,,1,1461810,6.840834308152222e-7,0,0,,,0.748,,0.00,0.00,1.67,,,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093616-A-C,17,43093616,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu639Val,p.Leu639Val,c.1915T>G,missense_variant,,,,1,1461810,6.840834308152222e-7,0,0,,,5.53,0.511,0.00,0.00,1.67,0.0200,0.242,0,33472,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43093620-A-G,17,43093620,rs62625305,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr637Thr,p.Thr637Thr,c.1911T>C,synonymous_variant,Likely benign,54396,,187,1613924,0.00011586667030169946,0,0,nfe,0.00013333,0.497,,0.00,0.00,-2.84,,,1,74900,0,0,2,59988,0,0,0,29602,0,0,0,44884,0,0,0,64004,0,0,2,6084,0,0,179,1179992,0,0,0,912,0,0,0,91074,0,0,3,62484,0,0 +17-43093624-C-T,17,43093624,rs398122649,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys636Tyr,p.Cys636Tyr,c.1907G>A,missense_variant,Conflicting interpretations of pathogenicity,91570,,3,1613862,0.0000018588949984571172,0,0,,,1.74,0.521,0.00,0.00,-1.36,0.200,0.00100,1,74866,0,0,0,59968,0,0,0,29596,0,0,0,44886,0,0,0,63988,0,0,0,6084,0,0,2,1180000,0,0,0,912,0,0,0,91082,0,0,0,62480,0,0 +17-43093624-C-G,17,43093624,rs398122649,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys636Ser,p.Cys636Ser,c.1907G>C,missense_variant,Conflicting interpretations of pathogenicity,579537,,1,1461794,6.840909184194216e-7,0,0,,,2.27,0.524,0.00,0.00,-1.36,0.0700,0.0620,0,33474,0,0,0,44716,0,0,0,26132,0,0,0,39688,0,0,0,53392,0,0,0,5768,0,0,1,1111984,0,0,,,,,0,86252,0,0,0,60388,0,0 +17-43093625-A-C,17,43093625,rs1334848140,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys636Gly,p.Cys636Gly,c.1906T>G,missense_variant,Conflicting interpretations of pathogenicity,820284,,1,152104,0.000006574449061168674,0,0,,,8.58,0.483,0.00,0.00,0.624,,,1,41392,0,0,0,15254,0,0,0,3470,0,0,0,5200,0,0,0,10614,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43093626-A-G,17,43093626,rs369373293,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn635Asn,p.Asn635Asn,c.1905T>C,synonymous_variant,Likely benign,136542,,35,1613928,0.000021686221442344393,0,0,afr,0.0002427,2.27,,0.00,0.00,0.0230,,,26,74908,0,0,3,59960,0,0,0,29598,0,0,0,44886,0,0,0,64010,0,0,0,6084,0,0,3,1180008,0,0,0,912,0,0,2,91080,0,0,1,62482,0,0 +17-43093631-G-A,17,43093631,rs80357056,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro634Ser,p.Pro634Ser,c.1900C>T,missense_variant,Conflicting interpretations of pathogenicity,54391,,2,833110,0.0000024006433724238097,0,0,,,19.4,0.471,0.00,0.00,1.64,0.160,0.829,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093633-G-A,17,43093633,rs398122647,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro633Leu,p.Pro633Leu,c.1898C>T,missense_variant,Conflicting interpretations of pathogenicity,91568,,5,780718,0.000006404361113744015,0,0,amr,0.000032739999999999995,22.6,0.398,0.00,0.00,4.14,0.0300,0.216,0,59078,0,0,5,58990,0,0,0,24450,0,0,0,41250,0,0,0,63704,0,0,0,4464,0,0,0,418066,0,0,0,912,0,0,0,74624,0,0,0,35180,0,0 +17-43093634-G-A,17,43093634,rs80356902,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro633Ser,p.Pro633Ser,c.1897C>T,missense_variant,Conflicting interpretations of pathogenicity,54387,,29,1613842,0.000017969541008351498,0,0,nfe,0.00001567,21.5,0.451,0.00,0.00,2.96,0.200,0.477,0,74868,0,0,0,59976,0,0,0,29594,0,0,0,44884,0,0,0,63978,0,0,0,6084,0,0,27,1179998,0,0,0,912,0,0,0,91072,0,0,2,62476,0,0 +17-43093636-C-T,17,43093636,rs80356983,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser632Asn,p.Ser632Asn,c.1895G>A,missense_variant,Conflicting interpretations of pathogenicity,54385,,4,1461794,0.0000027363636736776865,0,0,,,18.1,0.428,0.00,0.00,2.52,0.0300,0.609,0,33474,0,0,0,44718,0,0,0,26132,0,0,0,39688,0,0,0,53392,0,0,2,5768,0,0,1,1111982,0,0,,,,,0,86250,0,0,1,60390,0,0 +17-43093638-T-G,17,43093638,rs80356834,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu631Leu,p.Leu631Leu,c.1893A>C,synonymous_variant,Likely benign,184306,,24,1614014,0.00001486975949403165,0,0,nfe,0.00001107,5.73,,0.00,0.00,0.153,,,3,74928,0,0,0,59996,0,0,0,29594,0,0,0,44892,0,0,0,64034,0,0,0,6084,0,0,20,1180018,0,0,0,912,0,0,0,91080,0,0,1,62476,0,0 +17-43093638-T-TA,17,43093638,rs80357932,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser632LysfsTer4,p.Ser632LysfsTer4,c.1892dup,frameshift_variant,Pathogenic,54383,,2,1461804,0.0000013681724772951777,0,0,nfe,2.999999999999999e-7,23.7,,0.00,0.00,0.153,,,0,33474,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,2,1111982,0,0,,,,,0,86248,0,0,0,60390,0,0 +17-43093643-T-C,17,43093643,rs1597873547,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn630Asp,p.Asn630Asp,c.1888A>G,missense_variant,,,,1,628704,0.0000015905736244719296,0,0,,,22.8,0.351,0.00,0.00,3.19,0.0100,0.465,0,17690,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53122,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43093647-A-C,17,43093647,rs80357495,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser628Arg,p.Ser628Arg,c.1884T>G,missense_variant,Conflicting interpretations of pathogenicity,54380,,1,833108,0.0000012003245677631232,0,0,,,22.6,0.592,0.00,0.00,1.32,0.00,0.726,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43093647-A-G,17,43093647,rs80357495,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser628Ser,p.Ser628Ser,c.1884T>C,synonymous_variant,Likely benign,758459,,1,833108,0.0000012003245677631232,0,0,,,8.50,,0.00,0.00,1.32,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43093650-G-C,17,43093650,rs80356838,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val627Val,p.Val627Val,c.1881C>G,synonymous_variant,Conflicting interpretations of pathogenicity,54378,,26,1613912,0.000016109924209002722,0,0,nfe,0.00001454,6.28,,0.0100,0.0200,2.90,,,0,74906,0,0,0,59970,0,0,0,29602,0,0,0,44888,0,0,0,63996,0,0,0,6084,0,0,25,1179996,0,0,0,912,0,0,0,91074,0,0,1,62484,0,0 +17-43093650-G-A,17,43093650,rs80356838,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627Val,p.Val627Val,c.1881C>T,synonymous_variant,Likely benign,185004,,25,1461796,0.00001710224956149832,0,0,nfe,0.000014599999999999999,6.74,,0.00,0.00,2.90,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53390,0,0,0,5768,0,0,24,1111980,0,0,,,,,0,86244,0,0,1,60394,0,0 +17-43093651-A-C,17,43093651,rs770002293,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627Gly,p.Val627Gly,c.1880T>G,missense_variant,Conflicting interpretations of pathogenicity,193697,,1,628708,0.0000015905635048384942,0,0,,,21.5,0.555,0.00,0.00,1.04,0.0500,0.414,0,17690,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53120,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093652-C-T,17,43093652,rs80357425,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val627Ile,p.Val627Ile,c.1879G>A,missense_variant,Conflicting interpretations of pathogenicity,54377,,14,1613964,0.000008674295089605468,0,0,eas,0.00007256999999999998,16.9,0.500,0.00,0.00,4.23,0.0800,0.574,0,74912,0,0,0,59982,0,0,0,29598,0,0,7,44890,0,0,0,64000,0,0,0,6084,0,0,7,1180010,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43093653-T-C,17,43093653,rs8176154,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val626Val,p.Val626Val,c.1878A>G,synonymous_variant,Conflicting interpretations of pathogenicity,231250,,42,1614016,0.000026022046869423848,0,0,sas,0.00009193999999999999,7.61,,0.0100,0.0100,0.0810,,,1,74926,0,0,0,59992,0,0,0,29602,0,0,0,44892,0,0,0,64028,0,0,0,6084,0,0,25,1180010,0,0,0,912,0,0,14,91086,0,0,2,62484,0,0 +17-43093653-T-TACTA,17,43093653,rs80357516,T,TACTA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val627SerfsTer4,p.Val627SerfsTer4,c.1874_1877dup,frameshift_variant,Pathogenic,54376,,1,1461816,6.840806230059049e-7,0,0,,,23.4,,0.00,0.0100,0.0810,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39688,0,0,0,53402,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43093656-T-C,17,43093656,rs786201429,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu625Leu,p.Leu625Leu,c.1875A>G,synonymous_variant,Likely benign,184378,,11,1461824,0.000007524845672256031,0,0,nfe,0.00000455,6.59,,0.00,0.00,-1.32,,,0,33476,0,0,1,44724,0,0,0,26132,0,0,0,39688,0,0,0,53400,0,0,0,5768,0,0,10,1111988,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093658-G-A,17,43093658,rs769044421,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu625Leu,p.Leu625Leu,c.1873C>T,synonymous_variant,Likely benign,219809,,7,1613950,0.000004337185166826729,0,0,eas,0.00004344999999999998,7.24,,0.00,0.00,0.937,,,0,74902,0,0,1,59986,0,0,0,29598,0,0,5,44884,0,0,0,64004,0,0,0,6084,0,0,1,1180012,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 +17-43093663-A-G,17,43093663,rs397508915,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu623Pro,p.Leu623Pro,c.1868T>C,missense_variant,Conflicting interpretations of pathogenicity,54373,,1,152214,0.0000065696979252893955,0,0,,,26.0,0.833,0.00,0.00,3.24,0.0300,0.918,0,41444,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10632,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43093664-G-C,17,43093664,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu623Val,p.Leu623Val,c.1867C>G,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,24.0,0.744,0.00,0.00,6.23,0.0100,0.925,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093665-C-T,17,43093665,rs1800064,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala622Ala,p.Ala622Ala,c.1866G>A,synonymous_variant,Likely benign,182091,,20,1613932,0.0000123920958255986,0,0,eas,0.000007390000000000001,4.42,,0.00,0.00,-3.12,,,2,74904,0,0,1,59986,0,0,0,29596,0,0,2,44888,0,0,0,63988,0,0,0,6082,0,0,14,1180004,0,0,0,912,0,0,0,91086,0,0,1,62486,0,0 +17-43093666-G-A,17,43093666,rs56039126,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala622Val,p.Ala622Val,c.1865C>T,missense_variant,Benign,54371,,132,1613884,0.00008179026497567359,0,0,nfe,0.00008673,17.1,0.563,0.00,0.00,3.35,0.0400,0.150,1,74890,0,0,2,59986,0,0,0,29602,0,0,1,44886,0,0,0,63968,0,0,1,6084,0,0,120,1179992,0,0,0,912,0,0,0,91078,0,0,7,62486,0,0 +17-43093666-G-T,17,43093666,rs56039126,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala622Glu,p.Ala622Glu,c.1865C>A,missense_variant,,,,1,1461766,6.841040221211877e-7,0,0,,,12.7,0.524,0.00,0.00,3.35,0.110,0.136,0,33476,0,0,0,44724,0,0,0,26132,0,0,1,39688,0,0,0,53368,0,0,0,5768,0,0,0,1111966,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43093667-C-T,17,43093667,rs1567797954,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala622Thr,p.Ala622Thr,c.1864G>A,missense_variant,Conflicting interpretations of pathogenicity,619786,,1,628694,0.0000015905989241188878,0,0,,,12.8,0.596,0.00,0.00,1.34,0.180,0.314,0,17690,0,0,0,43740,0,0,0,20978,0,0,1,36058,0,0,0,53112,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093671-A-T,17,43093671,rs1324048846,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile620Ile,p.Ile620Ile,c.1860T>A,synonymous_variant,Likely benign,1533259,,1,152184,0.000006570993008463439,0,0,,,7.20,,0.00,0.00,0.483,,,0,41442,0,0,0,15268,0,0,0,3470,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43093675-T-G,17,43093675,rs771890863,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His619Pro,p.His619Pro,c.1856A>C,missense_variant,,,,1,628694,0.0000015905989241188878,0,0,,,13.3,0.495,0.00,0.00,0.176,0.210,0.0130,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,0,350076,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093677-C-T,17,43093677,rs1060504585,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg618Arg,p.Arg618Arg,c.1854G>A,synonymous_variant,Likely benign,415595,,8,1461792,0.000005472734835051772,0,0,nfe,0.0000013199999999999999,9.00,,0.00,0.00,0.257,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,1,53376,0,0,0,5768,0,0,5,1111980,0,0,,,,,1,86254,0,0,1,60392,0,0 +17-43093680-G-C,17,43093680,rs1555591097,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr617Thr,p.Thr617Thr,c.1851C>G,synonymous_variant,Likely benign,462569,,1,628692,0.0000015906039841448595,0,0,,,8.23,,0.00,0.00,1.97,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53100,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093682-T-C,17,43093682,rs45564238,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr617Ala,p.Thr617Ala,c.1849A>G,missense_variant,Conflicting interpretations of pathogenicity,41807,,7,1461806,0.000004788597118906339,0,0,nfe,0.0000013199999999999999,6.28,0.540,0.00,0.00,-0.205,0.500,0.443,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,5,1111982,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43093682-TAGA-T,17,43093682,rs80358329,TAGA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser616del,p.Ser616del,c.1846_1848del,inframe_deletion,Benign,37430,,342,1614142,0.00021187726978171684,1,0,afr,0.0035352900000000004,17.3,,0.00,0.00,-0.205,,,293,75060,1,0,4,60016,0,0,0,29602,0,0,0,44880,0,0,0,64012,0,0,2,6062,0,0,21,1180006,0,0,0,912,0,0,2,91084,0,0,20,62508,0,0 +17-43093683-A-G,17,43093683,rs2154417226,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser616Ser,p.Ser616Ser,c.1848T>C,synonymous_variant,Likely benign,1544086,,1,628486,0.0000015911253393074787,0,0,,,5.34,,0.00,0.00,-0.728,,,0,17542,0,0,0,43736,0,0,0,20980,0,0,1,36056,0,0,0,53098,0,0,0,4148,0,0,0,350068,0,0,,,,,0,69790,0,0,0,33068,0,0 +17-43093686-A-C,17,43093686,rs1349314670,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser615Ser,p.Ser615Ser,c.1845T>G,synonymous_variant,,,,1,151948,0.000006581198831179088,0,0,,,9.14,,0.00,0.00,-0.0610,,,0,41192,0,0,1,15270,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43093687-G-T,17,43093687,rs398122645,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615Tyr,p.Ser615Tyr,c.1844C>A,missense_variant,,,,3,1461778,0.0000020522952185625998,0,0,sas,0.00000924,23.9,0.672,0.00,0.00,4.13,0.00,0.957,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5766,0,0,0,1111982,0,0,,,,,3,86248,0,0,0,60394,0,0 +17-43093687-G-GAC,17,43093687,rs767595162,G,GAC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615CysfsTer12,p.Ser615CysfsTer12,c.1842_1843dup,frameshift_variant,Pathogenic,254400,,5,1461778,0.000003420492030937666,0,0,sas,0.000021940000000000003,26.3,,0.00,0.00,4.13,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5766,0,0,0,1111982,0,0,,,,,5,86248,0,0,0,60394,0,0 +17-43093688-A-T,17,43093688,rs1384752453,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser615Thr,p.Ser615Thr,c.1843T>A,missense_variant,,,,1,628698,0.0000015905888041635253,0,0,,,22.7,0.533,0.00,0.00,0.963,0.120,0.474,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53106,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,1,33096,0,0 +17-43093689-C-A,17,43093689,rs760109939,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614Asn,p.Lys614Asn,c.1842G>T,missense_variant,Conflicting interpretations of pathogenicity,252401,,2,628690,0.0000031812180884060508,0,0,,,23.4,0.605,0.00,0.00,0.675,0.00,0.994,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53098,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43093689-C-T,17,43093689,rs760109939,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys614Lys,p.Lys614Lys,c.1842G>A,synonymous_variant,Likely benign,184574,,3,780894,0.000003841750608917471,0,0,,,7.95,,0.00,0.00,0.675,,,0,59142,0,0,1,59012,0,0,0,24452,0,0,0,41254,0,0,0,63724,0,0,0,4464,0,0,2,418116,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 +17-43093690-T-C,17,43093690,rs1597873869,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614Arg,p.Lys614Arg,c.1841A>G,missense_variant,Conflicting interpretations of pathogenicity,820172,,1,1461780,6.840974702075551e-7,0,0,,,21.6,0.641,0.00,0.00,0.818,0.310,0.927,1,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53366,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093690-TTC-T,17,43093690,rs752474843,TTC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys614ValfsTer10,p.Lys614ValfsTer10,c.1839_1840del,frameshift_variant,Pathogenic,254399,,5,1461780,0.000003420487351037776,0,0,sas,0.000021940000000000003,26.9,,0.00,0.00,0.818,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53366,0,0,0,5768,0,0,0,1111978,0,0,,,,,5,86254,0,0,0,60394,0,0 +17-43093691-T-A,17,43093691,rs80357282,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys614Ter,p.Lys614Ter,c.1840A>T,stop_gained,Pathogenic,54369,,2,780892,0.000002561173632205222,0,0,,,36.0,,0.00,0.0100,4.69,,,0,59144,0,0,0,59008,0,0,0,24450,0,0,0,41264,0,0,0,63726,0,0,0,4464,0,0,1,418106,0,0,0,912,0,0,0,74628,0,0,1,35190,0,0 +17-43093692-C-T,17,43093692,rs759157605,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg613Arg,p.Arg613Arg,c.1839G>A,synonymous_variant,Likely benign,427297,,2,1461764,0.000001368209916238189,0,0,,,8.52,,0.00,0.00,1.12,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,1,39686,0,0,0,53360,0,0,0,5768,0,0,1,1111978,0,0,,,,,0,86244,0,0,0,60394,0,0 +17-43093693-C-T,17,43093693,rs786203937,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg613Lys,p.Arg613Lys,c.1838G>A,missense_variant,Conflicting interpretations of pathogenicity,187705,,2,628676,0.0000031812889310232935,0,0,amr,0.000007580000000000001,15.7,0.452,0.00,0.00,0.985,0.270,0.751,0,17694,0,0,2,43738,0,0,0,20980,0,0,0,36056,0,0,0,53086,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093694-T-C,17,43093694,rs863224753,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg613Gly,p.Arg613Gly,c.1837A>G,missense_variant,Conflicting interpretations of pathogenicity,216655,,3,781014,0.000003841160337714817,0,0,nfe,8e-7,25.2,0.738,0.00,0.00,1.77,0.0100,0.992,0,59280,0,0,0,59026,0,0,0,24450,0,0,0,41242,0,0,0,63712,0,0,0,4442,0,0,2,418116,0,0,0,912,0,0,0,74622,0,0,1,35212,0,0 +17-43093695-C-T,17,43093695,rs2154418419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg612Arg,p.Arg612Arg,c.1836G>A,synonymous_variant,Likely benign,1656292,,2,1461778,0.0000013681968123750666,0,0,nfe,2.999999999999999e-7,10.1,,0.00,0.00,1.95,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39684,0,0,0,53364,0,0,0,5768,0,0,2,1111980,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093697-T-C,17,43093697,rs80357245,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg612Gly,p.Arg612Gly,c.1834A>G,missense_variant,Benign,54367,,6,780916,0.000007683284757899697,0,0,sas,0.00000445,23.1,0.601,0.00,0.00,2.39,0.0500,0.323,0,59158,0,0,0,59016,0,0,0,24450,0,0,0,41262,0,0,0,63718,0,0,0,4464,0,0,4,418120,0,0,0,912,0,0,2,74626,0,0,0,35190,0,0 +17-43093701-C-T,17,43093701,rs587780796,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg610Arg,p.Arg610Arg,c.1830G>A,synonymous_variant,Likely benign,136080,,9,628672,0.000014315891275577726,0,0,nfe,0.00000931,8.68,,0.00,0.00,1.86,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53082,0,0,0,4148,0,0,7,350082,0,0,,,,,0,69794,0,0,2,33096,0,0 +17-43093704-ATTCT-A,17,43093704,rs80357585,ATTCT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys608IlefsTer3,p.Lys608IlefsTer3,c.1823_1826del,frameshift_variant,Pathogenic,54361,,5,1461770,0.0000034205107506652893,0,0,nfe,0.0000013199999999999999,24.3,,0.00,0.00,-1.63,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39686,0,0,0,53364,0,0,0,5768,0,0,5,1111970,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093704-A-G,17,43093704,rs757657445,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn609Asn,p.Asn609Asn,c.1827T>C,synonymous_variant,Likely benign,427307,,6,1613896,0.0000037177116741103517,0,0,afr,0.000025500000000000003,1.82,,0.00,0.00,-1.63,,,5,74898,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,63962,0,0,0,6084,0,0,1,1179988,0,0,0,912,0,0,0,91086,0,0,0,62486,0,0 +17-43093704-ATTC-A,17,43093704,rs587781614,ATTC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys608del,p.Lys608del,c.1824_1826del,inframe_deletion,Uncertain significance,141263,,16,1613896,0.000009913897797627604,0,0,nfe,0.00000803,11.8,,0.00,0.00,-1.63,,,0,74898,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,63962,0,0,0,6084,0,0,16,1179988,0,0,0,912,0,0,0,91086,0,0,0,62486,0,0 +17-43093705-T-C,17,43093705,rs80357236,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn609Ser,p.Asn609Ser,c.1826A>G,missense_variant,Conflicting interpretations of pathogenicity,37429,,3,1461746,0.0000020523401466465445,0,0,nfe,7.200000000000001e-7,17.7,0.403,0.00,0.00,0.775,0.110,0.780,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,3,1111946,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093707-C-A,17,43093707,rs2053878737,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys608Asn,p.Lys608Asn,c.1824G>T,missense_variant,,,,1,152178,0.000006571252086372537,0,0,,,18.9,0.417,0.00,0.00,1.19,,,0,41430,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10616,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43093710-T-C,17,43093710,rs2154419638,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys607Lys,p.Lys607Lys,c.1821A>G,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,6.22,,0.00,0.00,3.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,1,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093712-T-C,17,43093712,rs80357220,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys607Glu,p.Lys607Glu,c.1819A>G,missense_variant,Conflicting interpretations of pathogenicity,224430,,1,152344,0.000006564091792259623,0,0,,,23.2,0.527,0.00,0.00,2.35,0.00,0.926,0,41578,0,0,0,15298,0,0,0,3466,0,0,1,5192,0,0,0,10624,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2116,0,0 +17-43093718-C-G,17,43093718,rs587781613,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala605Pro,p.Ala605Pro,c.1813G>C,missense_variant,Conflicting interpretations of pathogenicity,619785,,1,628660,0.0000015906849489390132,0,0,,,9.58,0.562,0.00,0.00,0.605,0.0800,0.289,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53068,0,0,0,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093724-A-G,17,43093724,rs1555591208,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser603Pro,p.Ser603Pro,c.1807T>C,missense_variant,,,,1,628638,0.0000015907406170164705,0,0,,,22.8,0.542,0.00,0.00,2.23,0.0400,0.473,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53048,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093726-T-C,17,43093726,rs1567798189,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn602Ser,p.Asn602Ser,c.1805A>G,missense_variant,Conflicting interpretations of pathogenicity,628485,,1,628634,0.0000015907507389037182,0,0,,,0.230,0.182,0.00,0.00,-0.364,0.980,0.00600,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53044,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093728-G-A,17,43093728,rs1057523373,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His601His,p.His601His,c.1803C>T,synonymous_variant,Likely benign,389240,,1,152170,0.0000065715975553657095,0,0,,,1.55,,0.00,0.00,-0.618,,,0,41454,0,0,1,15262,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43093729-T-C,17,43093729,rs371631805,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His601Arg,p.His601Arg,c.1802A>G,missense_variant,Conflicting interpretations of pathogenicity,188204,,14,1613960,0.000008674316587771691,0,0,afr,0.00007226999999999998,7.52,0.500,0.00,0.00,-0.885,0.310,0.168,10,74942,0,0,1,59992,0,0,0,29604,0,0,0,44886,0,0,0,63946,0,0,1,6084,0,0,2,1180022,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 +17-43093734-A-G,17,43093734,rs756211343,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn599Asn,p.Asn599Asn,c.1797T>C,synonymous_variant,Likely benign,184539,,13,1613922,0.000008054912195260985,0,0,eas,0.00015392999999999996,6.83,,0.00,0.00,0.737,,,0,74926,0,0,0,59992,0,0,0,29602,0,0,12,44888,0,0,0,63936,0,0,0,6084,0,0,0,1180006,0,0,0,912,0,0,0,91088,0,0,1,62488,0,0 +17-43093735-T-C,17,43093735,rs1174268388,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn599Ser,p.Asn599Ser,c.1796A>G,missense_variant,Conflicting interpretations of pathogenicity,652519,,1,833110,0.0000012003216862119048,0,0,,,20.6,0.445,0.00,0.00,0.751,0.0600,0.829,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43093737-T-C,17,43093737,rs876659644,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu598Leu,p.Leu598Leu,c.1794A>G,synonymous_variant,Likely benign,232242,,8,1461740,0.000005472929522350076,0,0,nfe,0.0000031,7.89,,0.00,0.00,0.381,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53316,0,0,0,5768,0,0,8,1111986,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093738-A-C,17,43093738,rs80357118,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu598Ter,p.Leu598Ter,c.1793T>G,stop_gained,Pathogenic,54352,,4,628620,0.0000063631446660939835,0,0,sas,0.00001141,34.0,,0.00,0.00,2.95,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53034,0,0,0,4148,0,0,1,350080,0,0,,,,,3,69794,0,0,0,33096,0,0 +17-43093742-C-G,17,43093742,rs55650082,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu597Gln,p.Glu597Gln,c.1789G>C,missense_variant,,,,1,1461706,6.841321031725942e-7,0,0,,,23.3,0.628,0.00,0.00,6.96,0.00,0.997,0,33480,0,0,0,44724,0,0,0,26130,0,0,1,39686,0,0,0,53304,0,0,0,5768,0,0,0,1111980,0,0,,,,,0,86242,0,0,0,60392,0,0 +17-43093742-C-T,17,43093742,rs55650082,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu597Lys,p.Glu597Lys,c.1789G>A,missense_variant,Benign,41806,,269,1613814,0.00016668587581964217,0,0,nfe,0.00017818,22.8,0.636,0.00,0.00,6.96,0.0400,0.992,5,74900,0,0,0,59992,0,0,0,29602,0,0,2,44880,0,0,0,63894,0,0,0,6084,0,0,235,1180006,0,0,0,912,0,0,1,91064,0,0,26,62480,0,0 +17-43093743-G-A,17,43093743,rs779253414,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu596Leu,p.Leu596Leu,c.1788C>T,synonymous_variant,Likely benign,427314,,5,1461698,0.000003420679237434819,0,0,nfe,8.4e-7,2.67,,0.00,0.00,-0.370,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53284,0,0,0,5768,0,0,4,1111986,0,0,,,,,0,86246,0,0,1,60394,0,0 +17-43093745-G-C,17,43093745,rs80357371,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu596Val,p.Leu596Val,c.1786C>G,missense_variant,Conflicting interpretations of pathogenicity,54347,,4,1461702,0.0000027365359012986232,0,0,nfe,8.4e-7,15.2,0.600,0.00,0.00,0.711,0.130,0.348,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53282,0,0,0,5768,0,0,4,1111984,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43093745-G-A,17,43093745,rs80357371,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu596Phe,p.Leu596Phe,c.1786C>T,missense_variant,Conflicting interpretations of pathogenicity,182136,,4,1613926,0.0000024784283789963107,0,0,nfe,2.8000000000000007e-7,22.8,0.520,0.00,0.00,0.711,0.0200,0.665,1,75020,0,0,1,60002,0,0,0,29604,0,0,0,44864,0,0,0,63886,0,0,0,6062,0,0,2,1179994,0,0,0,912,0,0,0,91076,0,0,0,62506,0,0 +17-43093750-A-G,17,43093750,rs2053884703,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met594Thr,p.Met594Thr,c.1781T>C,missense_variant,Conflicting interpretations of pathogenicity,949994,,1,833110,0.0000012003216862119048,0,0,,,21.4,0.511,0.00,0.00,2.17,0.0200,0.206,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093752-A-G,17,43093752,rs1060504563,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593Asn,p.Asn593Asn,c.1779T>C,synonymous_variant,Likely benign,415563,,1,628602,0.0000015908317186391388,0,0,,,7.24,,0.00,0.00,0.485,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53014,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093754-T-C,17,43093754,rs772975110,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593Asp,p.Asn593Asp,c.1777A>G,missense_variant,,,,1,628600,0.000001590836780146357,0,0,,,15.2,0.347,0.00,0.00,1.09,0.450,0.109,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53026,0,0,0,4144,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43093754-T-G,17,43093754,rs772975110,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn593His,p.Asn593His,c.1777A>C,missense_variant,Conflicting interpretations of pathogenicity,1779891,,1,628600,0.000001590836780146357,0,0,,,20.9,0.412,0.00,0.00,1.09,0.100,0.433,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53026,0,0,0,4144,0,0,1,350078,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43093755-G-A,17,43093755,rs876658911,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser592Ser,p.Ser592Ser,c.1776C>T,synonymous_variant,Likely benign,231027,,1,628584,0.0000015908772733636235,0,0,,,6.04,,0.00,0.00,0.184,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53002,0,0,0,4146,0,0,0,350082,0,0,,,,,0,69792,0,0,1,33092,0,0 +17-43093756-C-T,17,43093756,rs786203044,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser592Asn,p.Ser592Asn,c.1775G>A,missense_variant,Conflicting interpretations of pathogenicity,186563,,1,628586,0.0000015908722115987311,0,0,,,9.18,0.411,0.00,0.00,0.484,0.180,0.0290,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36054,0,0,0,52998,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43093758-TA-T,17,43093758,rs80357901,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591LysfsTer8,p.Ile591LysfsTer8,c.1772del,frameshift_variant,Pathogenic,54346,,1,628598,0.0000015908418416857832,0,0,,,24.3,,0.00,0.0100,1.03,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53014,0,0,0,4146,0,0,1,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43093759-A-G,17,43093759,rs80356859,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591Thr,p.Ile591Thr,c.1772T>C,missense_variant,Conflicting interpretations of pathogenicity,54345,,6,1461684,0.000004104854400814403,0,0,nfe,8.4e-7,18.7,0.661,0.00,0.00,1.71,0.0300,0.780,0,33480,0,0,0,44724,0,0,0,26130,0,0,0,39686,0,0,0,53274,0,0,1,5768,0,0,4,1111982,0,0,,,,,0,86246,0,0,1,60394,0,0 +17-43093760-T-C,17,43093760,rs1064795358,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile591Val,p.Ile591Val,c.1771A>G,missense_variant,Conflicting interpretations of pathogenicity,421781,,1,628574,0.0000015909025826712528,0,0,,,13.1,0.598,0.00,0.0100,-0.111,0.190,0.463,0,17692,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,52994,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43093762-C-T,17,43093762,rs1060502349,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser590Asn,p.Ser590Asn,c.1769G>A,missense_variant,Conflicting interpretations of pathogenicity,409345,,1,833110,0.0000012003216862119048,0,0,,,17.9,0.476,0.00,0.00,2.53,0.120,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093763-T-C,17,43093763,rs80357454,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser590Gly,p.Ser590Gly,c.1768A>G,missense_variant,Conflicting interpretations of pathogenicity,54344,,1,833110,0.0000012003216862119048,0,0,,,22.9,0.561,0.00,0.00,4.75,0.0100,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093765-C-A,17,43093765,rs1567798335,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser589Ile,p.Ser589Ile,c.1766G>T,missense_variant,Conflicting interpretations of pathogenicity,801061,,2,780704,0.0000025617903840636143,0,0,,,20.9,0.541,0.00,0.00,0.439,0.0400,0.125,0,59122,0,0,2,59004,0,0,0,24448,0,0,0,41258,0,0,0,63608,0,0,0,4464,0,0,0,418100,0,0,0,912,0,0,0,74608,0,0,0,35180,0,0 +17-43093765-C-T,17,43093765,rs1567798335,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser589Asn,p.Ser589Asn,c.1766G>A,missense_variant,Conflicting interpretations of pathogenicity,619784,,1,628562,0.0000015909329549034144,0,0,,,14.7,0.339,0.00,0.00,0.439,0.270,0.0610,0,17692,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,52996,0,0,0,4148,0,0,0,350080,0,0,,,,,1,69780,0,0,0,33092,0,0 +17-43093766-T-C,17,43093766,rs2154424891,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser589Gly,p.Ser589Gly,c.1765A>G,missense_variant,Conflicting interpretations of pathogenicity,1947263,,4,833110,0.000004801286744847619,0,0,nfe,0.0000012299999999999999,16.0,0.454,0.00,0.00,2.88,0.280,0.125,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093767-G-T,17,43093767,rs1597874296,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser588Arg,p.Ser588Arg,c.1764C>A,missense_variant,Conflicting interpretations of pathogenicity,1361721,,1,152266,0.000006567454323355181,0,0,,,20.9,0.600,0.00,0.00,2.25,0.0100,0.566,0,41560,0,0,0,15290,0,0,0,3472,0,0,1,5192,0,0,0,10596,0,0,0,294,0,0,0,68012,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 +17-43093769-T-C,17,43093769,rs1169162396,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser588Gly,p.Ser588Gly,c.1762A>G,missense_variant,Conflicting interpretations of pathogenicity,531235,,7,780744,0.00000896580697386083,0,0,amr,0.000055149999999999985,23.4,0.474,0.00,0.00,2.70,0.00,0.937,0,59146,0,0,7,59014,0,0,0,24448,0,0,0,41262,0,0,0,63626,0,0,0,4460,0,0,0,418094,0,0,0,912,0,0,0,74598,0,0,0,35184,0,0 +17-43093772-T-C,17,43093772,rs1597874361,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile587Val,p.Ile587Val,c.1759A>G,missense_variant,Conflicting interpretations of pathogenicity,662219,,7,1461600,0.000004789272030651341,0,0,nfe,0.00000194,14.1,0.513,0.00,0.0100,0.631,0.390,0.593,0,33466,0,0,0,44712,0,0,0,26126,0,0,0,39686,0,0,0,53278,0,0,0,5766,0,0,6,1111958,0,0,,,,,1,86222,0,0,0,60386,0,0 +17-43093773-AG-A,17,43093773,rs80357723,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro586LeufsTer2,p.Pro586LeufsTer2,c.1757del,frameshift_variant,Pathogenic,54343,,1,833110,0.0000012003216862119048,0,0,,,25.6,,0.00,0.0200,-0.181,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093782-T-C,17,43093782,rs876659580,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys583Lys,p.Lys583Lys,c.1749A>G,synonymous_variant,Likely benign,232140,,3,628366,0.0000047742875967191095,0,0,amr,0.000007590000000000001,6.10,,0.00,0.00,1.48,,,0,17662,0,0,2,43696,0,0,0,20968,0,0,0,36056,0,0,0,52986,0,0,0,4146,0,0,1,350028,0,0,,,,,0,69744,0,0,0,33080,0,0 +17-43093784-T-C,17,43093784,rs80356928,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys583Glu,p.Lys583Glu,c.1747A>G,missense_variant,Conflicting interpretations of pathogenicity,91562,,17,1613654,0.000010535096123456454,0,0,afr,0.00011211,8.70,0.537,0.00,0.00,0.775,0.150,0.0620,14,74906,0,0,1,59952,0,0,0,29590,0,0,0,44890,0,0,0,63880,0,0,0,6082,0,0,0,1179962,0,0,0,912,0,0,0,91014,0,0,2,62466,0,0 +17-43093785-C-T,17,43093785,rs776115545,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr582Thr,p.Thr582Thr,c.1746G>A,synonymous_variant,Likely benign,427309,,1,628278,0.0000015916521030499239,0,0,,,0.216,,0.00,0.00,-1.03,,,0,17662,0,0,1,43674,0,0,0,20968,0,0,0,36056,0,0,0,52972,0,0,0,4144,0,0,0,350006,0,0,,,,,0,69716,0,0,0,33080,0,0 +17-43093786-G-A,17,43093786,rs786202386,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr582Met,p.Thr582Met,c.1745C>T,missense_variant,Conflicting interpretations of pathogenicity,185698,,15,1613436,0.000009296929038400035,0,0,nfe,0.00000615,13.1,0.387,0.00,0.00,1.38,0.0100,0.901,0,74856,0,0,0,59914,0,0,0,29590,0,0,0,44880,0,0,0,63852,0,0,0,6076,0,0,13,1179894,0,0,0,912,0,0,1,91008,0,0,1,62454,0,0 +17-43093794-A-C,17,43093794,rs1567798463,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala579Ala,p.Ala579Ala,c.1737T>G,synonymous_variant,Likely benign,628257,,5,1461354,0.0000034214844589332905,0,0,nfe,0.0000013199999999999999,4.47,,0.00,0.00,-0.136,,,0,33420,0,0,0,44658,0,0,0,26120,0,0,0,39686,0,0,0,53238,0,0,0,5764,0,0,5,1111908,0,0,,,,,0,86190,0,0,0,60370,0,0 +17-43093796-C-G,17,43093796,rs759108406,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala579Pro,p.Ala579Pro,c.1735G>C,missense_variant,Conflicting interpretations of pathogenicity,1779064,,1,152146,0.0000065726341803267915,0,0,,,13.7,0.508,0.00,0.00,0.930,,,0,41438,0,0,0,15266,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,1,68024,0,0,0,910,0,0,0,4830,0,0,0,2086,0,0 +17-43093798-G-T,17,43093798,rs80356939,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser578Tyr,p.Ser578Tyr,c.1733C>A,missense_variant,Conflicting interpretations of pathogenicity,54338,,5,1461314,0.0000034215781139440255,0,0,nfe,0.0000013199999999999999,23.3,0.578,0.00,0.00,4.93,0.00,0.922,0,33424,0,0,0,44650,0,0,0,26124,0,0,0,39682,0,0,0,53218,0,0,0,5760,0,0,5,1111904,0,0,,,,,0,86182,0,0,0,60370,0,0 +17-43093800-T-G,17,43093800,rs28897678,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu577Asp,p.Glu577Asp,c.1731A>C,missense_variant,,,,1,1461360,6.842940822247769e-7,0,0,,,22.5,0.659,0.00,0.00,1.09,0.0100,0.566,0,33424,0,0,0,44662,0,0,0,26124,0,0,1,39686,0,0,0,53230,0,0,0,5758,0,0,0,1111916,0,0,,,,,0,86190,0,0,0,60370,0,0 +17-43093800-T-C,17,43093800,rs28897678,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu577Glu,p.Glu577Glu,c.1731A>G,synonymous_variant,Likely benign,184373,,64,1613536,0.00003966443884735141,0,0,nfe,0.00004183,5.64,,0.00,0.00,1.09,,,1,74866,0,0,0,59930,0,0,0,29594,0,0,0,44886,0,0,0,63852,0,0,0,6074,0,0,62,1179938,0,0,0,912,0,0,0,91026,0,0,1,62458,0,0 +17-43093802-C-G,17,43093802,rs397508903,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu577Gln,p.Glu577Gln,c.1729G>C,missense_variant,Conflicting interpretations of pathogenicity,860128,,1,628180,0.000001591900410710306,0,0,,,23.1,0.592,0.00,0.00,2.45,0.0100,0.770,0,17634,0,0,1,43662,0,0,0,20970,0,0,0,36054,0,0,0,52936,0,0,0,4140,0,0,0,350000,0,0,,,,,0,69714,0,0,0,33070,0,0 +17-43093807-T-C,17,43093807,rs111539978,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu575Gly,p.Glu575Gly,c.1724A>G,missense_variant,Conflicting interpretations of pathogenicity,186110,,50,1613682,0.000030985039183680554,0,0,afr,0.00023103999999999998,3.72,0.369,0.00,0.00,-0.994,0.170,0.0260,25,75006,0,0,3,59952,0,0,0,29594,0,0,0,44878,0,0,0,63868,0,0,1,6050,0,0,0,1179932,0,0,0,912,0,0,0,91014,0,0,21,62476,0,0 +17-43093808-C-T,17,43093808,rs397508902,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu575Lys,p.Glu575Lys,c.1723G>A,missense_variant,Conflicting interpretations of pathogenicity,54334,,29,1461170,0.00001984710882375083,0,0,sas,0.00004583999999999998,7.63,0.616,0.00,0.00,1.58,0.140,0.122,0,33410,0,0,3,44620,0,0,0,26122,0,0,0,39682,0,0,0,53214,0,0,0,5754,0,0,17,1111868,0,0,,,,,8,86134,0,0,1,60366,0,0 +17-43093809-G-A,17,43093809,rs530914551,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu574Leu,p.Leu574Leu,c.1722C>T,synonymous_variant,Likely benign,427326,,7,1613184,0.0000043392446242958025,0,0,sas,0.00000876,0.660,,0.00,0.00,1.17,,,0,74912,0,0,0,59878,0,0,0,29584,0,0,1,44868,0,0,0,63730,0,0,0,6046,0,0,2,1179838,0,0,0,912,0,0,3,90952,0,0,1,62464,0,0 +17-43093811-G-A,17,43093811,rs1323998441,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu574Phe,p.Leu574Phe,c.1720C>T,missense_variant,Conflicting interpretations of pathogenicity,1652406,,2,628100,0.0000031842063365706097,0,0,,,11.8,0.493,0.00,0.00,-1.79,0.0100,0.742,0,17624,0,0,0,43644,0,0,0,20970,0,0,0,36052,0,0,0,52938,0,0,0,4138,0,0,1,349980,0,0,,,,,1,69682,0,0,0,33072,0,0 +17-43093813-G-A,17,43093813,rs876660434,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser573Leu,p.Ser573Leu,c.1718C>T,missense_variant,Conflicting interpretations of pathogenicity,233482,,3,1461120,0.0000020532194480946122,0,0,nfe,2.999999999999999e-7,23.0,0.506,0.00,0.00,3.99,0.0600,0.443,0,33394,0,0,0,44606,0,0,0,26118,0,0,0,39684,0,0,0,53184,0,0,0,5754,0,0,2,1111868,0,0,,,,,0,86150,0,0,1,60362,0,0 +17-43093814-A-G,17,43093814,rs876660448,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser573Pro,p.Ser573Pro,c.1717T>C,missense_variant,Conflicting interpretations of pathogenicity,233500,,8,833102,0.000009602665699998319,0,0,nfe,0.00000452,23.4,0.575,0.00,0.00,1.29,0.0500,0.414,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,8,761900,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43093818-T-C,17,43093818,rs552505690,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile571Met,p.Ile571Met,c.1713A>G,missense_variant,Conflicting interpretations of pathogenicity,186051,,8,1613636,0.000004957747596112135,0,0,afr,0.000043699999999999985,0.773,0.481,0.00,0.00,-0.483,0.110,0.0190,7,74990,0,0,1,59938,0,0,0,29594,0,0,0,44876,0,0,0,63842,0,0,0,6048,0,0,0,1179932,0,0,0,910,0,0,0,91028,0,0,0,62478,0,0 +17-43093819-A-G,17,43093819,rs80357159,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile571Thr,p.Ile571Thr,c.1712T>C,missense_variant,Conflicting interpretations of pathogenicity,54330,,31,1613480,0.000019213129384931948,0,0,amr,0.00001329,0.167,0.539,0.00,0.00,0.762,0.680,0.00,1,74970,0,0,3,59910,0,0,0,29596,0,0,0,44864,0,0,0,63800,0,0,0,6048,0,0,23,1179886,0,0,0,912,0,0,1,91014,0,0,3,62480,0,0 +17-43093820-T-C,17,43093820,rs1310719199,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile571Val,p.Ile571Val,c.1711A>G,missense_variant,Conflicting interpretations of pathogenicity,462566,,16,1461320,0.000010949005009169792,0,0,nfe,0.0000081,0.144,0.563,0.00,0.00,-1.60,1.00,0.00,0,33414,0,0,0,44650,0,0,0,26124,0,0,0,39686,0,0,0,53212,0,0,0,5756,0,0,15,1111912,0,0,,,,,0,86202,0,0,1,60364,0,0 +17-43093821-T-C,17,43093821,rs876659901,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro570Pro,p.Pro570Pro,c.1710A>G,synonymous_variant,Likely benign,232651,,6,1461090,0.000004106523212122457,0,0,nfe,0.00000194,4.63,,0.00,0.00,0.490,,,0,33378,0,0,0,44604,0,0,0,26118,0,0,0,39686,0,0,0,53210,0,0,0,5758,0,0,6,1111846,0,0,,,,,0,86136,0,0,0,60354,0,0 +17-43093822-G-T,17,43093822,rs879254020,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro570Gln,p.Pro570Gln,c.1709C>A,missense_variant,Conflicting interpretations of pathogenicity,245965,,5,1461132,0.000003422004308987826,0,0,nfe,0.0000013199999999999999,17.4,0.473,0.00,0.00,0.544,0.0100,0.142,0,33400,0,0,0,44614,0,0,0,26116,0,0,0,39686,0,0,0,53198,0,0,0,5754,0,0,5,1111860,0,0,,,,,0,86144,0,0,0,60360,0,0 +17-43093824-G-T,17,43093824,rs876659110,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn569Lys,p.Asn569Lys,c.1707C>A,missense_variant,,,,1,628096,0.0000015921133075198695,0,0,,,7.39,0.399,0.00,0.00,1.13,0.0500,0.0860,0,17630,0,0,0,43654,0,0,0,20970,0,0,0,36056,0,0,0,52906,0,0,0,4132,0,0,0,349984,0,0,,,,,1,69700,0,0,0,33064,0,0 +17-43093825-T-C,17,43093825,rs1060502329,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn569Ser,p.Asn569Ser,c.1706A>G,missense_variant,Conflicting interpretations of pathogenicity,819849,,2,1461158,0.0000013687773669924814,0,0,nfe,2.999999999999999e-7,6.37,0.390,0.00,0.00,0.697,0.240,0.137,0,33412,0,0,0,44634,0,0,0,26122,0,0,0,39684,0,0,0,53200,0,0,0,5746,0,0,2,1111852,0,0,,,,,0,86150,0,0,0,60358,0,0 +17-43093827-A-C,17,43093827,rs587780795,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro568Pro,p.Pro568Pro,c.1704T>G,synonymous_variant,Likely benign,136079,,3,628074,0.000004776507226855434,0,0,amr,0.000007600000000000001,3.87,,0.00,0.00,-0.0890,,,0,17618,0,0,2,43642,0,0,0,20968,0,0,0,36054,0,0,0,52932,0,0,0,4130,0,0,0,349986,0,0,,,,,0,69682,0,0,1,33062,0,0 +17-43093828-G-A,17,43093828,rs80356910,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Leu,p.Pro568Leu,c.1703C>T,missense_variant,Benign,54329,,14,1613200,0.000008678403173816017,1,0,sas,0.0000036500000000000006,16.5,0.407,0.00,0.00,0.973,0.0200,0.0410,0,74800,0,0,0,59872,0,0,0,29590,0,0,0,44878,0,0,0,63780,0,0,3,6066,1,0,8,1179876,0,0,0,912,0,0,2,90976,0,0,1,62450,0,0 +17-43093828-G-C,17,43093828,rs80356910,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Arg,p.Pro568Arg,c.1703C>G,missense_variant,Conflicting interpretations of pathogenicity,54328,,8,1613200,0.000004959087527894867,0,0,nfe,0.00000247,16.4,0.548,0.00,0.00,0.973,0.0200,0.119,0,74800,0,0,1,59872,0,0,0,29590,0,0,0,44878,0,0,0,63780,0,0,0,6066,0,0,7,1179876,0,0,0,912,0,0,0,90976,0,0,0,62450,0,0 +17-43093829-G-A,17,43093829,rs755122577,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro568Ser,p.Pro568Ser,c.1702C>T,missense_variant,Conflicting interpretations of pathogenicity,185060,,2,780092,0.000002563800167159771,0,0,,,3.70,0.561,0.00,0.00,-0.112,0.130,0.00700,2,59034,0,0,0,58884,0,0,0,24436,0,0,0,41250,0,0,0,63502,0,0,0,4442,0,0,0,417996,0,0,0,912,0,0,0,74494,0,0,0,35142,0,0 +17-43093830-A-AT,17,43093830,rs80357784,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567LysfsTer3,p.Asn567LysfsTer3,c.1700dup,frameshift_variant,Pathogenic,125508,,1,833098,0.0000012003389757267452,0,0,,,17.2,,0.00,0.0100,-0.481,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093831-T-A,17,43093831,rs2053898401,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567Ile,p.Asn567Ile,c.1700A>T,missense_variant,,,,1,1461134,6.843999249897683e-7,0,0,,,16.7,0.434,0.00,0.00,-0.620,0.0100,0.969,0,33402,0,0,0,44612,0,0,0,26122,0,0,0,39684,0,0,0,53196,0,0,0,5746,0,0,1,1111880,0,0,,,,,0,86132,0,0,0,60360,0,0 +17-43093831-T-C,17,43093831,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn567Ser,p.Asn567Ser,c.1700A>G,missense_variant,,,,1,1461134,6.843999249897683e-7,0,0,,,2.79,0.307,0.00,0.00,-0.620,0.220,0.474,0,33402,0,0,0,44612,0,0,0,26122,0,0,0,39684,0,0,0,53196,0,0,0,5746,0,0,1,1111880,0,0,,,,,0,86132,0,0,0,60360,0,0 +17-43093836-C-G,17,43093836,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu565Asp,p.Glu565Asp,c.1695G>C,missense_variant,,,,1,833100,0.0000012003360941063497,0,0,,,13.2,0.516,0.00,0.00,2.38,0.0100,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,1,16458,0,0,0,27298,0,0 +17-43093838-C-T,17,43093838,rs886039963,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu565Lys,p.Glu565Lys,c.1693G>A,missense_variant,,,,1,627982,0.0000015924023300030893,0,0,,,13.4,0.553,0.00,0.00,4.08,0.160,0.562,0,17612,0,0,0,43638,0,0,0,20966,0,0,0,36054,0,0,1,52916,0,0,0,4108,0,0,0,349976,0,0,,,,,0,69648,0,0,0,33064,0,0 +17-43093839-A-T,17,43093839,rs2154429843,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn564Lys,p.Asn564Lys,c.1692T>A,missense_variant,,,,3,833106,0.00000360098234798453,0,0,nfe,0.00000105,0.334,0.481,0.00,0.00,-0.772,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093841-T-C,17,43093841,rs397507191,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn564Asp,p.Asn564Asp,c.1690A>G,missense_variant,,,,1,628110,0.0000015920778207638789,0,0,,,22.7,0.457,0.00,0.00,2.32,0.0200,0.0100,0,17634,0,0,0,43664,0,0,0,20972,0,0,0,36054,0,0,0,52920,0,0,0,4114,0,0,0,349996,0,0,,,,,0,69680,0,0,1,33076,0,0 +17-43093842-C-A,17,43093842,rs2053899751,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln563His,p.Gln563His,c.1689G>T,missense_variant,,,,1,628024,0.00000159229583582793,0,0,,,20.6,0.494,0.00,0.0100,2.01,0.0500,0.844,0,17620,0,0,0,43646,0,0,0,20966,0,0,0,36052,0,0,0,52918,0,0,0,4102,0,0,0,349988,0,0,,,,,1,69658,0,0,0,33074,0,0 +17-43093844-G-A,17,43093844,rs80356898,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln563Ter,p.Gln563Ter,c.1687C>T,stop_gained,Pathogenic,37426,,15,1613306,0.000009297678183803941,0,0,nfe,0.00000763,36.0,,0.00,0.0100,4.84,,,0,74864,0,0,0,59912,0,0,0,29596,0,0,0,44886,0,0,0,63760,0,0,0,6052,0,0,15,1179908,0,0,0,912,0,0,0,90946,0,0,0,62470,0,0 +17-43093844-G-C,17,43093844,rs80356898,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln563Glu,p.Gln563Glu,c.1687C>G,missense_variant,,,,1,1461232,6.843540245491476e-7,0,0,,,22.5,0.497,0.00,0.00,4.84,0.0200,0.780,0,33452,0,0,0,44660,0,0,0,26126,0,0,1,39684,0,0,0,53170,0,0,0,5736,0,0,0,1111906,0,0,,,,,0,86118,0,0,0,60380,0,0 +17-43093848-A-G,17,43093848,rs1567798735,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser561Ser,p.Ser561Ser,c.1683T>C,synonymous_variant,Uncertain significance,619621,,1,628228,0.0000015917787809521384,0,0,,,7.70,,0.00,0.00,1.77,,,0,17672,0,0,0,43680,0,0,0,20972,0,0,0,36054,0,0,0,52926,0,0,0,4118,0,0,1,350030,0,0,,,,,0,69696,0,0,0,33080,0,0 +17-43093850-A-AATCACCTTTTGTTTTATTCTCATG,17,43093850,rs2053901411,A,AATCACCTTTTGTTTTATTCTCATG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His553_Asp560dup,p.His553_Asp560dup,c.1657_1680dup,inframe_insertion,Uncertain significance,1018104,,1,628260,0.0000015916977047719097,0,0,,,9.90,,0.00,0.0100,-0.752,,,0,17676,0,0,0,43692,0,0,0,20974,0,0,0,36054,0,0,0,52930,0,0,0,4118,0,0,1,350034,0,0,,,,,0,69698,0,0,0,33084,0,0 +17-43093851-A-G,17,43093851,rs2154430469,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp560Asp,p.Asp560Asp,c.1680T>C,synonymous_variant,Likely benign,1128597,,5,833104,0.000006001651654535328,0,0,nfe,0.0000019200000000000003,7.63,,0.00,0.00,0.681,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,5,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093852-T-A,17,43093852,rs1567798739,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp560Val,p.Asp560Val,c.1679A>T,missense_variant,Conflicting interpretations of pathogenicity,628573,,1,628286,0.0000015916318364566456,0,0,,,10.5,0.525,0.00,0.00,-1.12,0.0600,0.643,0,17678,0,0,0,43702,0,0,0,20978,0,0,0,36054,0,0,0,52936,0,0,0,4110,0,0,0,350040,0,0,,,,,0,69702,0,0,1,33086,0,0 +17-43093854-A-T,17,43093854,rs2053901841,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Gly,p.Gly559Gly,c.1677T>A,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.38,,0.00,0.00,0.0490,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093855-C-T,17,43093855,rs80356980,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Asp,p.Gly559Asp,c.1676G>A,missense_variant,Conflicting interpretations of pathogenicity,630049,,3,1461440,0.0000020527698708123493,0,0,nfe,7.200000000000001e-7,4.65,0.577,0.00,0.00,-1.61,0.0700,0.125,0,33472,0,0,0,44700,0,0,0,26130,0,0,0,39680,0,0,0,53224,0,0,0,5730,0,0,3,1111940,0,0,,,,,0,86182,0,0,0,60382,0,0 +17-43093856-C-T,17,43093856,rs1555591384,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly559Ser,p.Gly559Ser,c.1675G>A,missense_variant,Conflicting interpretations of pathogenicity,462565,,1,833108,0.0000012003245677631232,0,0,,,0.864,0.517,0.00,0.00,-0.584,0.0800,0.210,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093858-T-C,17,43093858,rs2154430983,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys558Arg,p.Lys558Arg,c.1673A>G,missense_variant,,,,3,1461486,0.0000020527052602625,0,0,nfe,7.200000000000001e-7,11.7,0.548,0.00,0.00,1.35,0.0700,0.298,0,33472,0,0,0,44698,0,0,0,26130,0,0,0,39684,0,0,0,53226,0,0,0,5736,0,0,3,1111954,0,0,,,,,0,86202,0,0,0,60384,0,0 +17-43093858-T-A,17,43093858,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys558Ile,p.Lys558Ile,c.1673A>T,missense_variant,Conflicting interpretations of pathogenicity,1777742,,4,1461486,0.0000027369403470166666,0,0,nfe,8.4e-7,21.3,0.521,0.00,0.00,1.35,0.0100,0.642,0,33472,0,0,0,44698,0,0,0,26130,0,0,0,39684,0,0,0,53226,0,0,0,5736,0,0,4,1111954,0,0,,,,,0,86202,0,0,0,60384,0,0 +17-43093868-T-C,17,43093868,rs2053904001,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn555Asp,p.Asn555Asp,c.1663A>G,missense_variant,Conflicting interpretations of pathogenicity,945062,,2,628440,0.0000031824836102094074,0,0,sas,0.00000476,13.5,0.367,0.00,0.0100,1.31,0.110,0.443,0,17694,0,0,0,43722,0,0,0,20978,0,0,0,36056,0,0,0,52970,0,0,0,4120,0,0,0,350052,0,0,,,,,2,69762,0,0,0,33086,0,0 +17-43093873-T-C,17,43093873,rs748431827,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His553Arg,p.His553Arg,c.1658A>G,missense_variant,Conflicting interpretations of pathogenicity,943608,,3,780720,0.00000384260682446972,0,0,afr,0.00001346,8.80,0.557,0.00,0.00,-0.106,0.190,0.00700,3,59158,0,0,0,59010,0,0,0,24448,0,0,0,41256,0,0,0,63614,0,0,0,4444,0,0,0,418090,0,0,0,912,0,0,0,74610,0,0,0,35178,0,0 +17-43093874-G-T,17,43093874,rs1176222161,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His553Asn,p.His553Asn,c.1657C>A,missense_variant,,,,2,628392,0.0000031827267056232416,0,0,,,5.44,0.399,0.00,0.0100,2.22,0.280,0.0150,0,17692,0,0,0,43722,0,0,0,20976,0,0,0,36056,0,0,0,52960,0,0,0,4126,0,0,1,350060,0,0,,,,,1,69714,0,0,0,33086,0,0 +17-43093876-CCACTATTAGTAATATTCAT-C,17,43093876,rs80359881,CCACTATTAGTAATATTCAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met546ValfsTer20,p.Met546ValfsTer20,c.1636_1654del,frameshift_variant,Pathogenic,54315,,1,833096,0.0000012003418573609765,0,0,,,23.4,,0.0100,0.0200,1.33,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093877-C-T,17,43093877,rs758598971,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly552Ser,p.Gly552Ser,c.1654G>A,missense_variant,Conflicting interpretations of pathogenicity,232405,,7,780504,0.000008968563902299028,0,0,,,9.66,0.528,0.00,0.00,0.457,0.160,0.142,0,59092,0,0,0,58976,0,0,0,24444,0,0,0,41252,0,0,7,63554,0,0,0,4442,0,0,0,418060,0,0,0,912,0,0,0,74594,0,0,0,35178,0,0 +17-43093880-T-G,17,43093880,rs730881472,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser551Arg,p.Ser551Arg,c.1651A>C,missense_variant,Conflicting interpretations of pathogenicity,950867,,1,1461594,6.84184527303752e-7,0,0,,,8.37,0.605,0.00,0.0100,0.378,0.100,0.00900,0,33478,0,0,0,44712,0,0,0,26130,0,0,0,39686,0,0,0,53260,0,0,0,5750,0,0,1,1111954,0,0,,,,,0,86240,0,0,0,60384,0,0 +17-43093880-T-TA,17,43093880,rs753524038,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser551Ter,p.Ser551Ter,c.1650dup,frameshift_variant,Pathogenic,254396,,2,1613922,0.0000012392172608093824,0,0,,,22.1,,0.00,0.00,0.378,,,0,75054,0,0,0,60014,0,0,0,29600,0,0,0,44876,0,0,0,63882,0,0,0,6044,0,0,0,1179978,0,0,0,912,0,0,2,91066,0,0,0,62496,0,0 +17-43093881-A-G,17,43093881,rs777595821,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn550Asn,p.Asn550Asn,c.1650T>C,synonymous_variant,Likely benign,427340,,5,1461598,0.0000034209132743750334,0,0,sas,0.000021940000000000003,5.46,,0.00,0.0100,-0.00900,,,0,33478,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53256,0,0,0,5752,0,0,0,1111952,0,0,,,,,5,86242,0,0,0,60388,0,0 +17-43093883-T-G,17,43093883,rs56012641,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn550His,p.Asn550His,c.1648A>C,missense_variant,Benign,37423,,542,1613938,0.00033582454840272674,8,0,amr,0.0002888600000000001,20.0,0.361,0.00,0.00,0.450,0.0100,0.880,5,75046,0,0,25,60014,0,0,0,29602,0,0,2,44878,0,0,1,63890,0,0,111,6040,6,0,322,1179984,0,0,0,910,0,0,29,91072,2,0,47,62502,0,0 +17-43093883-TAGTAATATTCA-T,17,43093883,,TAGTAATATTCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met546LysfsTer2,p.Met546LysfsTer2,c.1637_1647del,frameshift_variant,,,,1,1461606,6.84178910048262e-7,0,0,,,23.4,,0.00,0.0100,0.450,,,0,33474,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,0,53266,0,0,0,5748,0,0,0,1111956,0,0,,,,,0,86244,0,0,1,60388,0,0 +17-43093892-T-G,17,43093892,rs1060502351,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn547His,p.Asn547His,c.1639A>C,missense_variant,Conflicting interpretations of pathogenicity,409349,,1,152188,0.000006570820301206403,0,0,,,6.89,0.477,0.00,0.00,-0.364,,,1,41446,0,0,0,15268,0,0,0,3468,0,0,0,5206,0,0,0,10618,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43093898-C-T,17,43093898,rs1304908704,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val545Met,p.Val545Met,c.1633G>A,missense_variant,,,,1,628572,0.000001590907644629414,0,0,,,15.5,0.496,0.00,0.00,1.35,0.0400,0.335,0,17694,0,0,0,43726,0,0,0,20978,0,0,0,36054,0,0,1,53040,0,0,0,4140,0,0,0,350062,0,0,,,,,0,69784,0,0,0,33094,0,0 +17-43093899-T-C,17,43093899,rs876658401,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln544Gln,p.Gln544Gln,c.1632A>G,synonymous_variant,Likely benign,230123,,1,628564,0.0000015909278927841874,0,0,,,0.210,,0.00,0.0300,-1.96,,,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36054,0,0,0,53042,0,0,0,4140,0,0,1,350060,0,0,,,,,0,69778,0,0,0,33094,0,0 +17-43093900-T-C,17,43093900,rs397508892,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln544Arg,p.Gln544Arg,c.1631A>G,missense_variant,,,,1,628586,0.0000015908722115987311,0,0,,,15.9,0.606,0.00,0.00,-0.183,0.0500,0.0220,0,17694,0,0,0,43728,0,0,0,20978,0,0,0,36054,0,0,0,53050,0,0,0,4142,0,0,1,350064,0,0,,,,,0,69784,0,0,0,33092,0,0 +17-43093905-A-G,17,43093905,rs1281191417,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn542Asn,p.Asn542Asn,c.1626T>C,synonymous_variant,,,,1,628590,0.000001590862088165577,0,0,,,1.53,,0.00,0.00,-0.366,,,0,17694,0,0,1,43726,0,0,0,20980,0,0,0,36054,0,0,0,53062,0,0,0,4140,0,0,0,350064,0,0,,,,,0,69776,0,0,0,33094,0,0 +17-43093905-A-T,17,43093905,rs1281191417,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn542Lys,p.Asn542Lys,c.1626T>A,missense_variant,,,,1,628590,0.000001590862088165577,0,0,,,6.00,0.493,0.00,0.0100,-0.366,0.0900,0.178,0,17694,0,0,0,43726,0,0,0,20980,0,0,0,36054,0,0,1,53062,0,0,0,4140,0,0,0,350064,0,0,,,,,0,69776,0,0,0,33094,0,0 +17-43093907-T-TC,17,43093907,rs397508891,T,TC,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn542GlufsTer9,p.Asn542GlufsTer9,c.1623dup,frameshift_variant,Pathogenic,54312,,1,152220,0.000006569438969911969,0,0,,,20.6,,0.00,0.00,0.503,,,1,41456,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43093912-T-G,17,43093912,rs1375255651,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu540Ala,p.Glu540Ala,c.1619A>C,missense_variant,,,,1,628574,0.0000015909025826712528,0,0,,,6.66,0.542,0.00,0.00,1.00,0.150,0.410,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36050,0,0,0,53072,0,0,0,4140,0,0,1,350052,0,0,,,,,0,69774,0,0,0,33090,0,0 +17-43093913-C-T,17,43093913,rs730881471,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu540Lys,p.Glu540Lys,c.1618G>A,missense_variant,Conflicting interpretations of pathogenicity,182133,,1,628562,0.0000015909329549034144,0,0,,,11.3,0.559,0.00,0.00,1.66,0.140,0.298,0,17694,0,0,0,43724,0,0,0,20978,0,0,0,36050,0,0,0,53062,0,0,1,4142,0,0,0,350054,0,0,,,,,0,69768,0,0,0,33090,0,0 +17-43093914-C-T,17,43093914,rs372002119,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr539Thr,p.Thr539Thr,c.1617G>A,synonymous_variant,Likely benign,185046,,34,1613714,0.00002106940882956955,0,0,afr,0.00001747,2.42,,0.00,0.00,0.500,,,4,74876,0,0,3,59966,0,0,0,29602,0,0,0,44870,0,0,0,63932,0,0,0,6076,0,0,23,1179948,0,0,0,910,0,0,3,91052,0,0,1,62482,0,0 +17-43093915-G-T,17,43093915,rs80357374,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr539Lys,p.Thr539Lys,c.1616C>A,missense_variant,Conflicting interpretations of pathogenicity,182132,,2,1461640,0.0000013683259899838538,0,0,nfe,2.999999999999999e-7,9.15,0.578,0.00,0.00,-0.523,0.0500,0.0180,0,33478,0,0,0,44706,0,0,0,26130,0,0,0,39682,0,0,0,53338,0,0,0,5758,0,0,2,1111936,0,0,,,,,0,86226,0,0,0,60386,0,0 +17-43093915-G-A,17,43093915,rs80357374,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr539Met,p.Thr539Met,c.1616C>T,missense_variant,Benign,54310,,81,1613808,0.000050191844382974925,0,0,sas,0.00032176000000000004,0.268,0.467,0.00,0.00,-0.523,1.00,0.00,1,75008,0,0,0,59986,0,0,0,29602,0,0,0,44860,0,0,0,63916,0,0,3,6052,0,0,36,1179930,0,0,0,908,0,0,39,91050,0,0,2,62496,0,0 +17-43093918-T-C,17,43093918,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln538Arg,p.Gln538Arg,c.1613A>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,13.9,0.537,0.00,0.00,1.08,0.0700,0.210,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093920-G-C,17,43093920,rs1316419984,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn537Lys,p.Asn537Lys,c.1611C>G,missense_variant,,,,3,628572,0.000004772722933888242,0,0,sas,0.00001142,9.57,0.406,0.00,0.00,0.483,0.140,0.0900,0,17694,0,0,0,43718,0,0,0,20978,0,0,0,36050,0,0,0,53082,0,0,0,4148,0,0,0,350044,0,0,,,,,3,69770,0,0,0,33088,0,0 +17-43093922-T-C,17,43093922,rs398122639,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn537Asp,p.Asn537Asp,c.1609A>G,missense_variant,Conflicting interpretations of pathogenicity,91558,,16,1613880,0.000009913996083971547,0,0,afr,0.00013299999999999998,4.05,0.352,0.00,0.00,0.852,1.00,0.00,16,74932,0,0,0,59974,0,0,0,29600,0,0,0,44886,0,0,0,63978,0,0,0,6084,0,0,0,1179976,0,0,0,912,0,0,0,91062,0,0,0,62476,0,0 +17-43093923-A-C,17,43093923,rs1555591482,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr536Thr,p.Thr536Thr,c.1608T>G,synonymous_variant,Conflicting interpretations of pathogenicity,485398,,1,833096,0.0000012003418573609765,0,0,,,6.64,,0.00,0.00,-0.162,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761890,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43093924-G-A,17,43093924,rs398122638,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr536Ile,p.Thr536Ile,c.1607C>T,missense_variant,Conflicting interpretations of pathogenicity,819657,,1,628548,0.0000015909683906400147,0,0,,,17.1,0.507,0.00,0.00,0.983,0.0500,0.566,0,17694,0,0,1,43708,0,0,0,20976,0,0,0,36050,0,0,0,53076,0,0,0,4146,0,0,0,350042,0,0,,,,,0,69768,0,0,0,33088,0,0 +17-43093930-T-C,17,43093930,rs80357173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln534Arg,p.Gln534Arg,c.1601A>G,missense_variant,Conflicting interpretations of pathogenicity,54304,,2,628562,0.000003181865909806829,0,0,,,20.4,0.451,0.00,0.0100,1.30,0.0200,0.115,0,17694,0,0,0,43708,0,0,0,20978,0,0,1,36052,0,0,0,53090,0,0,0,4146,0,0,1,350038,0,0,,,,,0,69770,0,0,0,33086,0,0 +17-43093931-G-C,17,43093931,rs142074233,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln534Glu,p.Gln534Glu,c.1600C>G,missense_variant,,,,5,985148,0.000005075379536881768,0,0,nfe,0.0000017699999999999998,9.23,0.371,0.00,0.00,2.84,0.420,0.0150,0,57190,0,0,0,16242,0,0,0,8622,0,0,0,8814,0,0,0,10858,0,0,0,1936,0,0,5,829898,0,0,0,912,0,0,0,21292,0,0,0,29384,0,0 +17-43093932-A-G,17,43093932,rs1199322858,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn533Asn,p.Asn533Asn,c.1599T>C,synonymous_variant,Likely benign,819640,,2,780658,0.000002561941336667273,0,0,,,4.91,,0.00,0.00,0.242,,,2,59098,0,0,0,58964,0,0,0,24446,0,0,0,41238,0,0,0,63690,0,0,0,4464,0,0,0,418068,0,0,0,912,0,0,0,74598,0,0,0,35180,0,0 +17-43093933-T-C,17,43093933,rs786204263,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn533Ser,p.Asn533Ser,c.1598A>G,missense_variant,Conflicting interpretations of pathogenicity,188408,,6,833064,0.000007202327792342485,0,0,nfe,0.00000283,0.927,0.369,0.00,0.00,-0.101,0.700,0.146,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761862,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093937-T-A,17,43093937,rs2053915860,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile532Leu,p.Ile532Leu,c.1594A>T,missense_variant,Conflicting interpretations of pathogenicity,926833,,1,833062,0.0000012003908472598677,0,0,,,8.62,0.472,0.00,0.00,-0.210,0.220,0.0200,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761858,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43093938-C-T,17,43093938,rs2154434764,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met531Ile,p.Met531Ile,c.1593G>A,missense_variant,,,,1,1461588,6.841873359660862e-7,0,0,,,11.0,0.534,0.00,0.00,0.809,0.0200,0.00,0,33476,0,0,0,44684,0,0,0,26130,0,0,0,39680,0,0,0,53374,0,0,0,5766,0,0,0,1111886,0,0,,,,,1,86210,0,0,0,60382,0,0 +17-43093940-T-C,17,43093940,rs2053916000,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met531Val,p.Met531Val,c.1591A>G,missense_variant,Conflicting interpretations of pathogenicity,1063010,,1,628526,0.000001591024078558405,0,0,,,16.1,0.459,0.00,0.00,1.02,0.0100,0.00,0,17694,0,0,0,43696,0,0,0,20980,0,0,0,36048,0,0,0,53096,0,0,0,4148,0,0,0,350028,0,0,,,,,0,69750,0,0,1,33086,0,0 +17-43093944-A-C,17,43093944,rs1597875228,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro529Pro,p.Pro529Pro,c.1587T>G,synonymous_variant,Likely benign,1101458,,1,628516,0.000001591049392537342,0,0,,,11.0,,0.00,0.00,0.293,,,0,17694,0,0,0,43698,0,0,0,20980,0,0,0,36046,0,0,0,53088,0,0,0,4148,0,0,1,350024,0,0,,,,,0,69748,0,0,0,33090,0,0 +17-43093950-C-G,17,43093950,rs80357493,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys527Asn,p.Lys527Asn,c.1581G>C,missense_variant,Conflicting interpretations of pathogenicity,54300,,42,1613716,0.00002602688453234646,0,0,nfe,0.00002665,20.1,0.549,0.00,0.00,0.964,0.0300,0.814,0,74922,0,0,0,59936,0,0,0,29604,0,0,0,44876,0,0,0,63968,0,0,0,6084,0,0,42,1179938,0,0,0,912,0,0,0,91000,0,0,0,62476,0,0 +17-43093950-CTT-C,17,43093950,rs431825387,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys527AspfsTer3,p.Lys527AspfsTer3,c.1579_1580del,frameshift_variant,Pathogenic,96902,,2,1461576,0.0000013683859067198696,0,0,nfe,2.999999999999999e-7,24.2,,0.00,0.00,0.964,,,0,33480,0,0,0,44678,0,0,0,26132,0,0,0,39676,0,0,0,53366,0,0,0,5768,0,0,2,1111920,0,0,,,,,0,86172,0,0,0,60384,0,0 +17-43093951-T-C,17,43093951,rs774959350,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys527Arg,p.Lys527Arg,c.1580A>G,missense_variant,Conflicting interpretations of pathogenicity,418567,,1,628458,0.0000015911962295014146,0,0,,,22.5,0.672,0.00,0.00,4.71,0.100,0.742,0,17694,0,0,0,43700,0,0,0,20980,0,0,0,36044,0,0,0,53090,0,0,0,4148,0,0,1,350008,0,0,,,,,0,69712,0,0,0,33082,0,0 +17-43093953-T-C,17,43093953,rs762642319,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln526Gln,p.Gln526Gln,c.1578A>G,synonymous_variant,Likely benign,427361,,1,628490,0.0000015911152126525483,0,0,,,7.82,,0.00,0.00,-0.557,,,0,17692,0,0,0,43704,0,0,0,20980,0,0,0,36046,0,0,0,53100,0,0,0,4148,0,0,0,350018,0,0,,,,,1,69716,0,0,0,33086,0,0 +17-43093954-T-C,17,43093954,rs2053917320,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln526Arg,p.Gln526Arg,c.1577A>G,missense_variant,,,,1,628466,0.0000015911759745157255,0,0,,,14.8,0.582,0.00,0.00,0.815,0.120,0.133,0,17688,0,0,0,43696,0,0,0,20980,0,0,0,36046,0,0,0,53104,0,0,0,4146,0,0,1,350018,0,0,,,,,0,69706,0,0,0,33082,0,0 +17-43093957-A-G,17,43093957,rs879253902,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val525Ala,p.Val525Ala,c.1574T>C,missense_variant,Conflicting interpretations of pathogenicity,245690,,2,1461562,0.0000013683990142053501,0,0,sas,0.00000385,21.9,0.648,0.00,0.00,0.571,0.0100,0.688,0,33476,0,0,0,44680,0,0,0,26132,0,0,0,39676,0,0,0,53378,0,0,0,5768,0,0,0,1111914,0,0,,,,,2,86152,0,0,0,60386,0,0 +17-43093958-C-T,17,43093958,rs80357273,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val525Ile,p.Val525Ile,c.1573G>A,missense_variant,Conflicting interpretations of pathogenicity,54298,,14,1613566,0.000008676434679461516,0,0,afr,0.00009216999999999998,10.5,0.629,0.00,0.00,1.59,0.0900,0.348,12,74892,0,0,0,59932,0,0,0,29600,0,0,0,44882,0,0,0,63970,0,0,0,6082,0,0,0,1179878,0,0,0,912,0,0,0,90944,0,0,2,62474,0,0 +17-43093960-G-A,17,43093960,rs80357333,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala524Val,p.Ala524Val,c.1571C>T,missense_variant,Conflicting interpretations of pathogenicity,54297,,5,1461378,0.000003421428268387782,0,0,nfe,7.200000000000001e-7,16.4,0.528,0.00,0.0100,2.87,0.250,0.558,0,33462,0,0,1,44658,0,0,0,26126,0,0,0,39676,0,0,0,53362,0,0,0,5760,0,0,3,1111864,0,0,,,,,0,86092,0,0,1,60378,0,0 +17-43093961-C-T,17,43093961,rs761178502,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala524Thr,p.Ala524Thr,c.1570G>A,missense_variant,Conflicting interpretations of pathogenicity,940587,,4,1461454,0.0000027370002750685276,0,0,sas,0.000015850000000000002,8.69,0.578,0.00,0.00,-0.683,0.230,0.0270,0,33468,0,0,0,44664,0,0,0,26132,0,0,0,39678,0,0,0,53372,0,0,0,5766,0,0,0,1111888,0,0,,,,,4,86100,0,0,0,60386,0,0 +17-43093962-C-T,17,43093962,rs766934857,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Leu,p.Leu523Leu,c.1569G>A,synonymous_variant,Likely benign,427339,,1,628360,0.000001591444394932841,0,0,,,8.44,,0.00,0.00,2.29,,,0,17676,0,0,0,43684,0,0,0,20978,0,0,0,36050,0,0,0,53106,0,0,0,4146,0,0,1,349986,0,0,,,,,0,69648,0,0,0,33086,0,0 +17-43093963-A-C,17,43093963,rs397508885,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Trp,p.Leu523Trp,c.1568T>G,missense_variant,Conflicting interpretations of pathogenicity,54295,,1,628390,0.0000015913684177023822,0,0,,,23.7,0.613,0.00,0.00,1.02,0.00,0.928,0,17680,0,0,0,43690,0,0,0,20978,0,0,0,36052,0,0,0,53112,0,0,0,4146,0,0,1,349998,0,0,,,,,0,69648,0,0,0,33086,0,0 +17-43093964-A-C,17,43093964,rs754398271,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu523Val,p.Leu523Val,c.1567T>G,missense_variant,Conflicting interpretations of pathogenicity,937374,,1,628394,0.0000015913582879530996,0,0,,,15.2,0.612,0.00,0.00,0.0970,0.100,0.530,0,17680,0,0,0,43684,0,0,0,20980,0,0,0,36052,0,0,0,53116,0,0,0,4146,0,0,1,350000,0,0,,,,,0,69648,0,0,0,33088,0,0 +17-43093967-C-A,17,43093967,rs80357453,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp522Tyr,p.Asp522Tyr,c.1564G>T,missense_variant,,,,1,628356,0.0000015914545257783803,0,0,,,24.7,0.825,0.00,0.00,5.04,0.00,0.996,0,17676,0,0,0,43680,0,0,0,20974,0,0,0,36054,0,0,0,53112,0,0,0,4144,0,0,1,349992,0,0,,,,,0,69638,0,0,0,33086,0,0 +17-43093968-T-C,17,43093968,rs754970915,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala521Ala,p.Ala521Ala,c.1563A>G,synonymous_variant,Likely benign,427318,,5,628320,0.00000795772854596384,0,0,sas,0.000027970000000000005,11.5,,0.00,0.00,1.14,,,0,17674,0,0,0,43678,0,0,0,20976,0,0,0,36054,0,0,0,53108,0,0,0,4146,0,0,0,349976,0,0,,,,,5,69620,0,0,0,33088,0,0 +17-43093970-C-T,17,43093970,rs80357122,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala521Thr,p.Ala521Thr,c.1561G>A,missense_variant,Conflicting interpretations of pathogenicity,54291,,51,1613534,0.00003160763888458502,0,0,afr,0.0005199600000000002,16.0,0.530,0.00,0.00,2.02,0.350,0.127,50,74886,0,0,0,59914,0,0,0,29598,0,0,0,44886,0,0,0,63976,0,0,0,6080,0,0,0,1179902,0,0,0,912,0,0,0,90906,0,0,1,62474,0,0 +17-43093974-CT-C,17,43093974,rs80357662,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys519ArgfsTer13,p.Lys519ArgfsTer13,c.1556del,frameshift_variant,Pathogenic,17685,,3,1461400,0.0000020528260572054195,0,0,nfe,7.200000000000001e-7,27.6,,0.00,0.00,4.24,,,0,33460,0,0,0,44648,0,0,0,26126,0,0,0,39682,0,0,0,53384,0,0,0,5764,0,0,3,1111872,0,0,,,,,0,86086,0,0,0,60378,0,0 +17-43093976-T-G,17,43093976,rs397508882,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys519Gln,p.Lys519Gln,c.1555A>C,missense_variant,Conflicting interpretations of pathogenicity,54290,,6,1613606,0.0000037183798275415438,0,0,nfe,0.00000183,25.5,0.874,0.00,0.00,6.33,0.00,0.947,0,74918,0,0,0,59922,0,0,0,29598,0,0,0,44886,0,0,0,64012,0,0,0,6082,0,0,6,1179902,0,0,0,912,0,0,0,90898,0,0,0,62476,0,0 +17-43093977-G-A,17,43093977,rs1064794487,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile518Ile,p.Ile518Ile,c.1554C>T,synonymous_variant,,,,1,628300,0.0000015915963711602737,0,0,,,9.09,,0.00,0.00,1.90,,,0,17670,0,0,0,43666,0,0,0,20970,0,0,0,36054,0,0,0,53122,0,0,0,4146,0,0,1,349984,0,0,,,,,0,69604,0,0,0,33084,0,0 +17-43093978-A-G,17,43093978,rs1567799193,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile518Thr,p.Ile518Thr,c.1553T>C,missense_variant,Conflicting interpretations of pathogenicity,582489,,1,833108,0.0000012003245677631232,0,0,,,25.8,0.917,0.00,0.00,6.31,0.00,0.927,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093979-TAA-T,17,43093979,,TAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe517TyrfsTer13,p.Phe517TyrfsTer13,c.1550_1551del,frameshift_variant,,,,1,833108,0.0000012003245677631232,0,0,,,28.5,,0.00,0.00,4.72,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093982-A-G,17,43093982,rs2154438040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe517Leu,p.Phe517Leu,c.1549T>C,missense_variant,,,,1,833106,0.0000012003274493281767,0,0,,,26.9,0.948,0.00,0.00,6.31,0.0100,0.922,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43093988-C-T,17,43093988,rs886037990,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu515Lys,p.Glu515Lys,c.1543G>A,missense_variant,Conflicting interpretations of pathogenicity,631084,,1,833106,0.0000012003274493281767,0,0,,,26.1,0.900,0.00,0.00,8.87,0.00,0.992,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093990-G-A,17,43093990,rs56100707,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro514Leu,p.Pro514Leu,c.1541C>T,missense_variant,Conflicting interpretations of pathogenicity,619620,,2,152066,0.000013152183920139938,0,0,afr,0.00000801,26.3,0.823,0.00,0.00,8.76,,,2,41394,0,0,0,15254,0,0,0,3472,0,0,0,5194,0,0,0,10580,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43093993-T-C,17,43093993,rs1356078500,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Arg,p.His513Arg,c.1538A>G,missense_variant,Conflicting interpretations of pathogenicity,531377,,2,628542,0.0000031819671557350185,0,0,,,6.29,0.527,0.00,0.00,0.0890,0.180,0.0400,0,17686,0,0,0,43706,0,0,0,20976,0,0,0,36054,0,0,0,53122,0,0,0,4148,0,0,1,350026,0,0,,,,,1,69742,0,0,0,33082,0,0 +17-43093993-T-G,17,43093993,rs1356078500,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Pro,p.His513Pro,c.1538A>C,missense_variant,Conflicting interpretations of pathogenicity,1774749,,1,628542,0.0000015909835778675093,0,0,,,18.6,0.583,0.00,0.00,0.0890,0.0100,0.707,0,17686,0,0,0,43706,0,0,0,20976,0,0,0,36054,0,0,0,53122,0,0,0,4148,0,0,1,350026,0,0,,,,,0,69742,0,0,0,33082,0,0 +17-43093994-G-A,17,43093994,rs2154439034,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His513Tyr,p.His513Tyr,c.1537C>T,missense_variant,Conflicting interpretations of pathogenicity,1774740,,1,833102,0.0000012003332124997898,0,0,,,7.11,0.505,0.00,0.00,0.990,0.130,0.0400,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43093997-G-C,17,43093997,rs41286294,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu512Val,p.Leu512Val,c.1534C>G,missense_variant,Conflicting interpretations of pathogenicity,141741,,2,1461684,0.0000013682848002714677,0,0,nfe,2.999999999999999e-7,24.2,0.687,0.00,0.00,8.76,0.00,0.986,0,33474,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53396,0,0,0,5768,0,0,2,1111938,0,0,,,,,0,86206,0,0,0,60382,0,0 +17-43093997-G-A,17,43093997,rs41286294,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu512Phe,p.Leu512Phe,c.1534C>T,missense_variant,Benign,37420,,190,1613824,0.00011773278870558376,0,0,nfe,0.00013249,24.7,0.716,0.00,0.00,8.76,0.00,0.998,0,74904,0,0,0,59970,0,0,0,29598,0,0,0,44880,0,0,0,63998,0,0,0,6084,0,0,178,1179972,0,0,0,912,0,0,0,91036,0,0,12,62470,0,0 +17-43093998-G-GC,17,43093998,,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu512ProfsTer4,p.Leu512ProfsTer4,c.1532dup,frameshift_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,23.1,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,1,39686,0,0,0,53392,0,0,0,5768,0,0,0,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 +17-43093998-G-A,17,43093998,rs1280391272,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly511Gly,p.Gly511Gly,c.1533C>T,synonymous_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,3.70,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53392,0,0,0,5768,0,0,1,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 +17-43093998-G-T,17,43093998,rs1280391272,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly511Gly,p.Gly511Gly,c.1533C>A,synonymous_variant,Likely benign,462562,,5,1461678,0.000003420726042261018,0,0,nfe,0.0000013199999999999999,3.10,,0.00,0.00,0.548,,,0,33474,0,0,0,44706,0,0,0,26126,0,0,0,39686,0,0,0,53392,0,0,0,5768,0,0,5,1111930,0,0,,,,,0,86216,0,0,0,60380,0,0 +17-43093999-C-A,17,43093999,rs397507188,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly511Val,p.Gly511Val,c.1532G>T,missense_variant,Conflicting interpretations of pathogenicity,37419,,1,152080,0.000006575486586007364,0,0,,,17.9,0.563,0.00,0.00,4.20,0.270,0.596,0,41402,0,0,0,15250,0,0,0,3470,0,0,0,5200,0,0,0,10594,0,0,0,316,0,0,0,68018,0,0,0,910,0,0,0,4830,0,0,1,2090,0,0 +17-43094003-A-T,17,43094003,rs777916645,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser510Thr,p.Ser510Thr,c.1528T>A,missense_variant,Conflicting interpretations of pathogenicity,1315521,,2,628622,0.0000031815622106766867,0,0,sas,0.00000476,6.33,0.600,0.00,0.00,-0.900,0.250,0.223,0,17686,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,0,53124,0,0,0,4148,0,0,0,350056,0,0,,,,,2,69764,0,0,0,33086,0,0 +17-43094006-T-C,17,43094006,rs1238203770,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr509Ala,p.Thr509Ala,c.1525A>G,missense_variant,Likely benign,1275855,,1,628636,0.000001590745677943993,0,0,,,5.81,0.568,0.00,0.00,-1.15,0.160,0.0490,0,17690,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,0,53126,0,0,0,4148,0,0,1,350056,0,0,,,,,0,69766,0,0,0,33092,0,0 +17-43094007-A-G,17,43094007,rs200616937,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro508Pro,p.Pro508Pro,c.1524T>C,synonymous_variant,Likely benign,427337,,6,780898,0.000007683461860575901,0,0,amr,0.00004343999999999998,6.55,,0.00,0.00,-0.0790,,,0,59256,0,0,6,59008,0,0,0,24444,0,0,0,41244,0,0,0,63732,0,0,0,4442,0,0,0,418070,0,0,0,912,0,0,0,74586,0,0,0,35204,0,0 +17-43094009-G-A,17,43094009,rs1555591622,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro508Ser,p.Pro508Ser,c.1522C>T,missense_variant,Conflicting interpretations of pathogenicity,1774458,,1,1461740,6.841161902937595e-7,0,0,,,0.0690,0.537,0.00,0.00,-1.72,0.260,0.00300,0,33478,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111960,0,0,,,,,1,86222,0,0,0,60390,0,0 +17-43094009-G-C,17,43094009,rs1555591622,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro508Ala,p.Pro508Ala,c.1522C>G,missense_variant,Likely benign,482916,,1,1461740,6.841161902937595e-7,0,0,,,0.0440,0.549,0.00,0.00,-1.72,0.110,0.00300,0,33478,0,0,0,44706,0,0,0,26128,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,1,1111960,0,0,,,,,0,86222,0,0,0,60390,0,0 +17-43094010-T-C,17,43094010,rs2154440939,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg507Arg,p.Arg507Arg,c.1521A>G,synonymous_variant,Likely benign,1774426,,2,628634,0.0000031815014778074364,0,0,,,9.58,,0.00,0.00,0.378,,,0,17692,0,0,0,43724,0,0,0,20978,0,0,0,36056,0,0,1,53126,0,0,0,4146,0,0,1,350056,0,0,,,,,0,69764,0,0,0,33092,0,0 +17-43094014-C-T,17,43094014,rs2053926351,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg506Lys,p.Arg506Lys,c.1517G>A,missense_variant,Uncertain significance,2450667,,1,628680,0.0000015906343449767767,0,0,,,24.5,0.852,0.00,0.00,8.84,0.0200,0.953,0,17694,0,0,0,43730,0,0,0,20980,0,0,1,36056,0,0,0,53128,0,0,0,4144,0,0,0,350072,0,0,,,,,0,69784,0,0,0,33092,0,0 +17-43094015-T-C,17,43094015,rs2154441272,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg506Gly,p.Arg506Gly,c.1516A>G,missense_variant,,,,1,628684,0.0000015906242245706906,0,0,,,26.4,0.924,0.00,0.00,3.68,0.0100,0.997,0,17694,0,0,0,43732,0,0,0,20980,0,0,1,36054,0,0,0,53128,0,0,0,4144,0,0,0,350072,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43094020-C-T,17,43094020,rs56272539,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg504His,p.Arg504His,c.1511G>A,missense_variant,Benign,54278,,81,1614002,0.00005018581141782972,0,0,amr,0.00008997999999999999,16.1,0.658,0.00,0.00,0.981,0.0600,0.344,1,75012,0,0,10,59998,0,0,0,29598,0,0,1,44874,0,0,0,63994,0,0,1,6060,0,0,53,1179976,0,0,0,912,0,0,10,91074,0,0,5,62504,0,0 +17-43094021-G-T,17,43094021,rs80357445,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg504Ser,p.Arg504Ser,c.1510C>A,missense_variant,,,,1,1461764,6.841049581190945e-7,0,0,,,23.5,0.722,0.00,0.00,2.88,0.0100,0.832,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53394,0,0,0,5764,0,0,1,1111960,0,0,,,,,0,86246,0,0,0,60390,0,0 +17-43094021-G-A,17,43094021,rs80357445,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg504Cys,p.Arg504Cys,c.1510C>T,missense_variant,Conflicting interpretations of pathogenicity,54277,,22,1613918,0.000013631423653494168,0,0,afr,0.00001062,23.0,0.649,0.00,0.00,2.88,0.0300,0.344,3,74990,0,0,0,59984,0,0,0,29600,0,0,0,44858,0,0,0,63992,0,0,0,6058,0,0,19,1179966,0,0,0,908,0,0,0,91062,0,0,0,62500,0,0 +17-43094021-GCTTTA-G,17,43094021,rs876659139,GCTTTA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502SerfsTer2,p.Leu502SerfsTer2,c.1505_1509del,frameshift_variant,Pathogenic,231406,,5,1461764,0.0000034205247905954723,0,0,nfe,0.0000013199999999999999,25.6,,0.00,0.00,2.88,,,0,33480,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53394,0,0,0,5764,0,0,5,1111960,0,0,,,,,0,86246,0,0,0,60390,0,0 +17-43094022-CT-C,17,43094022,rs80357506,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503SerfsTer29,p.Lys503SerfsTer29,c.1508del,frameshift_variant,Pathogenic,54275,,4,1461764,0.000002736419832476378,0,0,nfe,8.4e-7,25.4,,0.00,0.00,0.145,,,0,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,4,1111954,0,0,,,,,0,86244,0,0,0,60390,0,0 +17-43094022-C-A,17,43094022,rs919114934,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys503Asn,p.Lys503Asn,c.1509G>T,missense_variant,,,,1,152124,0.000006573584707212537,0,0,,,21.6,0.690,0.00,0.00,0.145,,,0,41424,0,0,0,15268,0,0,0,3466,0,0,0,5194,0,0,0,10600,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,0,2088,0,0 +17-43094022-CTTTAA-C,17,43094022,rs80357888,CTTTAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502AlafsTer2,p.Leu502AlafsTer2,c.1504_1508del,frameshift_variant,Pathogenic,37417,,9,1461764,0.0000061569446230718505,0,0,sas,0.000015830000000000003,25.6,,0.00,0.0100,0.145,,,0,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,5,1111954,0,0,,,,,4,86244,0,0,0,60390,0,0 +17-43094022-CTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCT-C,17,43094022,rs2154442124,CTTTAATTTATTTGTGAGGGGACGCTCTTGTATTATCTGTGGCTCAGTAACAAATGCTCCTATAATTAGATTTTCAGTTACATGGCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser475AlafsTer2,p.Ser475AlafsTer2,c.1423_1508del,frameshift_variant,Pathogenic,1074343,,1,1461764,6.841049581190945e-7,0,0,,,27.1,,0.00,0.00,0.145,,,1,33478,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5766,0,0,0,1111954,0,0,,,,,0,86244,0,0,0,60390,0,0 +17-43094023-T-C,17,43094023,rs62625304,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503Arg,p.Lys503Arg,c.1508A>G,missense_variant,Conflicting interpretations of pathogenicity,54274,,78,1461738,0.00005336113585334718,0,0,nfe,0.0000551,24.2,0.757,0.00,0.00,1.39,0.0300,0.914,1,33478,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,75,1111940,0,0,,,,,0,86226,0,0,2,60390,0,0 +17-43094024-T-G,17,43094024,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys503Gln,p.Lys503Gln,c.1507A>C,missense_variant,,,,1,833084,0.0000012003591474569191,0,0,,,24.4,0.769,0.00,0.0100,2.31,0.0100,0.971,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43094025-T-C,17,43094025,rs786203671,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502Leu,p.Leu502Leu,c.1506A>G,synonymous_variant,Likely benign,187359,,1,628668,0.0000015906647069677476,0,0,,,10.5,,0.00,0.0100,0.522,,,0,17694,0,0,1,43732,0,0,0,20980,0,0,0,36056,0,0,0,53124,0,0,0,4146,0,0,0,350070,0,0,,,,,0,69774,0,0,0,33092,0,0 +17-43094027-A-G,17,43094027,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu502Leu,p.Leu502Leu,c.1504T>C,synonymous_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,6.74,,0.00,0.00,-0.153,,,0,33478,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5768,0,0,1,1111962,0,0,,,,,0,86234,0,0,0,60392,0,0 +17-43094027-AT-A,17,43094027,,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys501AsnfsTer2,p.Lys501AsnfsTer2,c.1503del,frameshift_variant,,,,1,1461770,6.841021501330579e-7,0,0,,,24.2,,0.00,0.00,-0.153,,,0,33478,0,0,0,44712,0,0,0,26132,0,0,0,39686,0,0,1,53406,0,0,0,5768,0,0,0,1111962,0,0,,,,,0,86234,0,0,0,60392,0,0 +17-43094029-T-G,17,43094029,rs113656989,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys501Thr,p.Lys501Thr,c.1502A>C,missense_variant,Conflicting interpretations of pathogenicity,438911,,2,1461786,0.000001368189324565976,0,0,nfe,2.999999999999999e-7,22.7,0.566,0.00,0.00,1.46,0.0900,0.990,0,33478,0,0,0,44716,0,0,0,26132,0,0,0,39686,0,0,0,53406,0,0,0,5766,0,0,2,1111968,0,0,,,,,0,86246,0,0,0,60388,0,0 +17-43094032-T-C,17,43094032,rs1555591677,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn500Ser,p.Asn500Ser,c.1499A>G,missense_variant,Conflicting interpretations of pathogenicity,489708,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,17.8,0.476,0.00,0.00,0.269,0.140,0.934,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094035-G-A,17,43094035,rs876658285,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Ile,p.Thr499Ile,c.1496C>T,missense_variant,Conflicting interpretations of pathogenicity,229940,,1,833092,0.0000012003476206709464,0,0,,,22.8,0.576,0.00,0.00,2.24,0.0300,0.838,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43094035-G-C,17,43094035,rs876658285,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Arg,p.Thr499Arg,c.1496C>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,20.8,0.582,0.00,0.00,2.24,0.0100,0.887,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43094035-G-T,17,43094035,rs876658285,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr499Lys,p.Thr499Lys,c.1496C>A,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,21.1,0.550,0.00,0.00,2.24,0.0800,0.897,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43094041-G-A,17,43094041,rs1555591693,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro497Leu,p.Pro497Leu,c.1490C>T,missense_variant,Conflicting interpretations of pathogenicity,479224,,1,151994,0.000006579207073963446,0,0,,,14.2,0.514,0.00,0.00,1.96,0.0700,0.893,0,41382,0,0,0,15242,0,0,0,3468,0,0,0,5184,0,0,0,10590,0,0,0,316,0,0,0,67996,0,0,0,910,0,0,1,4824,0,0,0,2082,0,0 +17-43094042-G-T,17,43094042,rs1555591695,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro497Thr,p.Pro497Thr,c.1489C>A,missense_variant,Conflicting interpretations of pathogenicity,489707,,1,833070,0.0000012003793198650773,0,0,,,13.3,0.500,0.00,0.00,1.02,0.0400,0.934,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761872,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43094044-C-T,17,43094044,rs28897677,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496His,p.Arg496His,c.1487G>A,missense_variant,Benign,41805,,1078,1613824,0.0006679786643401015,1,0,nfe,0.0008149,0.00200,0.550,0.00,0.00,-2.83,1.00,0.00300,16,74870,0,0,5,59976,0,0,0,29602,0,0,0,44876,0,0,14,64004,0,0,0,6082,0,0,1014,1179946,1,0,0,912,0,0,1,91074,0,0,28,62482,0,0 +17-43094044-C-G,17,43094044,rs28897677,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg496Pro,p.Arg496Pro,c.1487G>C,missense_variant,,,,1,1461756,6.841087021363347e-7,0,0,,,0.0320,0.578,0.00,0.00,-2.83,0.220,0.665,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53404,0,0,0,5766,0,0,1,1111926,0,0,,,,,0,86252,0,0,0,60392,0,0 +17-43094045-G-T,17,43094045,rs28897676,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496Ser,p.Arg496Ser,c.1486C>A,missense_variant,Conflicting interpretations of pathogenicity,54267,,5,1613802,0.0000030982735180647937,0,0,afr,0.000025500000000000003,0.753,0.610,0.00,0.00,-0.0930,0.320,0.0780,5,74886,0,0,0,59974,0,0,0,29598,0,0,0,44886,0,0,0,63996,0,0,0,6082,0,0,0,1179912,0,0,0,912,0,0,0,91076,0,0,0,62480,0,0 +17-43094045-G-A,17,43094045,rs28897676,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg496Cys,p.Arg496Cys,c.1486C>T,missense_variant,Benign,37416,,477,1613802,0.0002955752936233813,1,0,nfe,0.00031961,2.96,0.570,0.00,0.00,-0.0930,0.420,0.00900,7,74886,0,0,27,59974,0,0,14,29598,0,0,0,44886,0,0,1,63996,0,0,0,6082,0,0,410,1179912,1,0,0,912,0,0,0,91076,0,0,18,62480,0,0 +17-43094047-T-G,17,43094047,rs1567799498,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu495Ala,p.Glu495Ala,c.1484A>C,missense_variant,Conflicting interpretations of pathogenicity,575821,,1,628718,0.000001590538206318254,0,0,,,14.8,0.569,0.00,0.00,0.727,0.110,0.530,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53130,0,0,0,4146,0,0,0,350086,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43094050-T-C,17,43094050,rs2154443717,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln494Arg,p.Gln494Arg,c.1481A>G,missense_variant,,,,1,833088,0.0000012003533840362603,0,0,,,6.46,0.619,0.00,0.00,-0.386,0.160,0.139,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094051-G-A,17,43094051,rs80357010,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln494Ter,p.Gln494Ter,c.1480C>T,stop_gained,Pathogenic,37415,,1,628712,0.0000015905533853338253,0,0,,,33.0,,0.00,0.00,2.12,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53124,0,0,0,4146,0,0,0,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43094054-T-G,17,43094054,rs2053933371,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile493Leu,p.Ile493Leu,c.1477A>C,missense_variant,Conflicting interpretations of pathogenicity,856541,,1,628716,0.0000015905432659579206,0,0,,,5.73,0.621,0.00,0.00,-0.361,0.140,0.00900,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4146,0,0,1,350086,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43094060-G-A,17,43094060,rs62625303,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln491Ter,p.Gln491Ter,c.1471C>T,stop_gained,Pathogenic,54264,,1,833080,0.0000012003649109329235,0,0,,,29.3,,0.00,0.00,2.31,,,1,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761882,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43094061-T-C,17,43094061,rs775032066,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro490Pro,p.Pro490Pro,c.1470A>G,synonymous_variant,Likely benign,184840,,39,780938,0.00004993994401604225,0,0,amr,0.0004969500000000001,5.30,,0.00,0.0100,-0.128,,,0,59164,0,0,39,59006,0,0,0,24452,0,0,0,41254,0,0,0,63748,0,0,0,4462,0,0,0,418122,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 +17-43094064-C-T,17,43094064,rs794726997,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu489Glu,p.Glu489Glu,c.1467G>A,synonymous_variant,Likely benign,193695,,7,833098,0.000008402372830087217,0,0,nfe,0.00000283,0.342,,0.00,0.0100,-1.37,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,6,761894,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43094066-C-T,17,43094066,rs80357167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu489Lys,p.Glu489Lys,c.1465G>A,missense_variant,Conflicting interpretations of pathogenicity,54261,,2,833090,0.0000024007010046933706,0,0,nfe,4.4e-7,18.4,0.671,0.00,0.00,2.43,0.0600,0.893,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094067-A-T,17,43094067,rs1555591722,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr488Thr,p.Thr488Thr,c.1464T>A,synonymous_variant,Likely benign,1602312,,2,1461808,0.0000013681687335135667,0,0,sas,0.00000385,1.36,,0.0100,0.0100,-0.412,,,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111974,0,0,,,,,2,86252,0,0,0,60394,0,0 +17-43094068-G-C,17,43094068,rs2154444737,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr488Ser,p.Thr488Ser,c.1463C>G,missense_variant,,,,1,833084,0.0000012003591474569191,0,0,,,2.19,0.613,0.00,0.00,-0.0350,0.420,0.0340,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761882,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43094071-A-C,17,43094071,rs748812609,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val487Gly,p.Val487Gly,c.1460T>G,missense_variant,Conflicting interpretations of pathogenicity,482955,,16,1461826,0.000010945215093998876,0,0,sas,0.00011548999999999998,8.78,0.638,0.00,0.00,0.0610,0.0400,0.0210,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111990,0,0,,,,,16,86252,0,0,0,60394,0,0 +17-43094072-C-A,17,43094072,rs369588942,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val487Phe,p.Val487Phe,c.1459G>T,missense_variant,Conflicting interpretations of pathogenicity,37414,,32,781020,0.00004097206217510435,0,0,afr,0.00036373000000000015,16.4,0.634,0.00,0.00,0.207,0.00,0.530,30,59262,0,0,2,59028,0,0,0,24452,0,0,0,41240,0,0,0,63732,0,0,0,4442,0,0,0,418120,0,0,0,912,0,0,0,74620,0,0,0,35212,0,0 +17-43094074-A-G,17,43094074,rs774159828,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe486Ser,p.Phe486Ser,c.1457T>C,missense_variant,Conflicting interpretations of pathogenicity,819266,,1,628722,0.0000015905280871354907,0,0,,,3.19,0.591,0.00,0.0100,0.192,0.600,0.00700,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53128,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43094075-A-G,17,43094075,rs55906931,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe486Leu,p.Phe486Leu,c.1456T>C,missense_variant,Benign,54258,,562,1614110,0.00034817949210400777,8,0,amr,0.0002888600000000001,0.0100,0.567,0.00,0.00,-0.732,0.800,0.00700,19,75042,0,0,25,60014,0,0,0,29600,0,0,1,44866,0,0,1,64018,0,0,113,6062,6,0,323,1180006,0,0,0,912,0,0,32,91080,2,0,48,62510,0,0 +17-43094075-A-T,17,43094075,rs55906931,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe486Ile,p.Phe486Ile,c.1456T>A,missense_variant,Conflicting interpretations of pathogenicity,182090,,1,1461822,6.840778152196368e-7,0,0,,,0.0290,0.551,0.00,0.00,-0.732,0.400,0.0210,0,33478,0,0,1,44724,0,0,0,26132,0,0,0,39686,0,0,0,53402,0,0,0,5768,0,0,0,1111986,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094077-G-A,17,43094077,rs2154445229,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala485Val,p.Ala485Val,c.1454C>T,missense_variant,Conflicting interpretations of pathogenicity,1773016,,1,152258,0.000006567799393135336,0,0,,,8.68,0.629,0.00,0.00,1.52,,,0,41574,0,0,0,15284,0,0,0,3470,0,0,1,5180,0,0,0,10594,0,0,0,292,0,0,0,68008,0,0,0,912,0,0,0,4830,0,0,0,2114,0,0 +17-43094078-C-T,17,43094078,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala485Thr,p.Ala485Thr,c.1453G>A,missense_variant,Conflicting interpretations of pathogenicity,1974842,,3,833092,0.000003601042862012839,0,0,nfe,0.00000105,4.78,0.617,0.00,0.00,-0.806,0.410,0.401,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761888,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094081-C-T,17,43094081,rs80357304,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly484Arg,p.Gly484Arg,c.1450G>A,missense_variant,Conflicting interpretations of pathogenicity,568267,,3,1461804,0.000002052258715942767,0,0,nfe,2.999999999999999e-7,12.1,0.574,0.00,0.00,1.02,0.250,0.893,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,1,53394,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094083-A-G,17,43094083,rs80357489,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile483Thr,p.Ile483Thr,c.1448T>C,missense_variant,Conflicting interpretations of pathogenicity,54255,,15,1613958,0.000009293922146672961,0,0,nfe,0.00000615,9.94,0.605,0.0100,0.0300,-0.107,0.120,0.297,0,74928,0,0,0,59986,0,0,0,29604,0,0,0,44880,0,0,0,64000,0,0,0,6082,0,0,13,1180002,0,0,0,912,0,0,0,91078,0,0,2,62486,0,0 +17-43094085-A-G,17,43094085,rs1597875988,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile482Ile,p.Ile482Ile,c.1446T>C,synonymous_variant,Likely benign,819240,,1,152074,0.000006575746018385786,0,0,,,6.59,,0.00,0.00,-0.735,,,0,41396,0,0,0,15260,0,0,0,3470,0,0,0,5194,0,0,0,10604,0,0,0,316,0,0,0,68014,0,0,0,912,0,0,0,4814,0,0,1,2094,0,0 +17-43094085-A-T,17,43094085,rs1597875988,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile482Ile,p.Ile482Ile,c.1446T>A,synonymous_variant,,,,1,833094,0.0000012003447390090433,0,0,,,6.14,,0.00,0.00,-0.735,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761892,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43094086-A-G,17,43094086,rs1327980486,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile482Thr,p.Ile482Thr,c.1445T>C,missense_variant,,,,1,833104,0.0000012003303309070656,0,0,,,10.2,0.578,0.00,0.00,0.567,0.260,0.530,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094089-A-G,17,43094089,rs2053937820,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Pro,p.Leu481Pro,c.1442T>C,missense_variant,Conflicting interpretations of pathogenicity,921100,,1,628702,0.0000015905786843369356,0,0,,,18.1,0.604,0.00,0.00,0.258,0.0800,0.819,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53122,0,0,0,4148,0,0,0,350074,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43094090-G-T,17,43094090,rs1397842308,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Ile,p.Leu481Ile,c.1441C>A,missense_variant,Conflicting interpretations of pathogenicity,856298,,1,1461796,6.840899824599329e-7,0,0,,,21.5,0.580,0.00,0.00,1.72,0.0600,0.893,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43094090-G-C,17,43094090,rs1397842308,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu481Val,p.Leu481Val,c.1441C>G,missense_variant,Conflicting interpretations of pathogenicity,433698,,1,1461796,6.840899824599329e-7,0,0,,,16.3,0.668,0.00,0.00,1.72,0.130,0.893,0,33476,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53386,0,0,0,5768,0,0,1,1111980,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43094095-T-C,17,43094095,rs1597876039,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu479Gly,p.Glu479Gly,c.1436A>G,missense_variant,Conflicting interpretations of pathogenicity,819211,,2,1461812,0.0000013681649897524442,0,0,sas,0.00000385,20.0,0.599,0.00,0.00,3.72,0.0600,0.819,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53400,0,0,0,5768,0,0,0,1111978,0,0,,,,,2,86252,0,0,0,60394,0,0 +17-43094097-A-C,17,43094097,rs876658280,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr478Thr,p.Thr478Thr,c.1434T>G,synonymous_variant,Likely benign,229934,,1,152160,0.000006572029442691903,0,0,,,8.14,,0.00,0.00,0.892,,,0,41444,0,0,0,15268,0,0,0,3472,0,0,0,5200,0,0,0,10606,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43094103-A-G,17,43094103,rs1060504572,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His476His,p.His476His,c.1428T>C,synonymous_variant,Likely benign,415576,,1,833106,0.0000012003274493281767,0,0,,,3.97,,0.00,0.00,-1.22,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094104-T-C,17,43094104,rs55720177,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His476Arg,p.His476Arg,c.1427A>G,missense_variant,Benign/Likely benign,54251,,194,1614134,0.00012018828672216804,0,0,afr,0.0019486999999999994,8.15,0.576,0.00,0.00,-0.0860,0.130,0.759,167,75056,0,0,13,60018,0,0,0,29604,0,0,0,44876,0,0,0,64006,0,0,0,6062,0,0,2,1180010,0,0,0,912,0,0,0,91082,0,0,12,62508,0,0 +17-43094108-T-A,17,43094108,rs1064794047,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser475Cys,p.Ser475Cys,c.1423A>T,missense_variant,Conflicting interpretations of pathogenicity,419692,,4,985296,0.000004059693736704503,0,0,nfe,0.00000113,23.4,0.618,0.00,0.00,3.74,0.00,0.996,0,57238,0,0,0,16254,0,0,0,8624,0,0,0,8834,0,0,0,10898,0,0,0,1936,0,0,4,829918,0,0,0,912,0,0,0,21292,0,0,0,29390,0,0 +17-43094111-A-G,17,43094111,rs2154446945,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu474Leu,p.Leu474Leu,c.1420T>C,synonymous_variant,Likely benign,2565354,,1,628700,0.0000015905837442341339,0,0,,,3.74,,0.00,0.00,0.130,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43094112-G-A,17,43094112,rs777228325,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Asn,p.Asn473Asn,c.1419C>T,synonymous_variant,Likely benign,185689,,11,781000,0.000014084507042253522,0,0,afr,0.000054939999999999986,0.623,,0.00,0.00,0.358,,,7,59266,0,0,0,59034,0,0,0,24450,0,0,0,41248,0,0,0,63720,0,0,0,4442,0,0,3,418104,0,0,0,912,0,0,0,74616,0,0,1,35208,0,0 +17-43094113-T-A,17,43094113,rs80357057,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Ile,p.Asn473Ile,c.1418A>T,missense_variant,Benign,54249,,9,1613992,0.0000055762358177735705,0,0,afr,0.00001063,15.5,0.426,0.00,0.00,2.43,0.00,0.971,3,74934,0,0,2,59992,0,0,0,29602,0,0,0,44888,0,0,0,64000,0,0,0,6084,0,0,4,1180010,0,0,0,912,0,0,0,91084,0,0,0,62486,0,0 +17-43094113-T-G,17,43094113,rs80357057,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn473Thr,p.Asn473Thr,c.1418A>C,missense_variant,Conflicting interpretations of pathogenicity,653618,,3,1461810,0.0000020522502924456667,0,0,nfe,7.200000000000001e-7,14.9,0.438,0.00,0.00,2.43,0.00,0.924,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39686,0,0,0,53388,0,0,0,5768,0,0,3,1111986,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094113-T-C,17,43094113,rs80357057,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn473Ser,p.Asn473Ser,c.1418A>G,missense_variant,Benign,54248,,15,1614110,0.000009293046942277787,0,0,sas,0.000028630000000000002,6.34,0.371,0.00,0.00,2.43,0.200,0.641,1,75056,0,0,1,60012,0,0,0,29602,0,0,0,44876,0,0,1,64000,0,0,0,6062,0,0,5,1180002,0,0,0,912,0,0,6,91080,0,0,1,62508,0,0 +17-43094115-G-T,17,43094115,rs752808917,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro472Pro,p.Pro472Pro,c.1416C>A,synonymous_variant,Likely benign,1772130,,1,628678,0.0000015906394052281136,0,0,,,0.856,,0.00,0.00,0.145,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,0,350084,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43094115-G-A,17,43094115,rs752808917,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro472Pro,p.Pro472Pro,c.1416C>T,synonymous_variant,Likely benign,427352,,1,628678,0.0000015906394052281136,0,0,,,1.20,,0.00,0.00,0.145,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53088,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43094119-A-T,17,43094119,rs1167718207,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu471His,p.Leu471His,c.1412T>A,missense_variant,,,,1,628688,0.0000015906141042933855,0,0,,,5.44,0.524,0.00,0.00,0.995,0.320,0.718,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43094120-G-A,17,43094120,rs1282963652,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu471Phe,p.Leu471Phe,c.1411C>T,missense_variant,Conflicting interpretations of pathogenicity,1522766,,1,628690,0.0000015906090442030254,0,0,,,8.68,0.514,0.00,0.00,1.02,0.180,0.443,0,17694,0,0,0,43740,0,0,0,20978,0,0,1,36056,0,0,0,53106,0,0,0,4148,0,0,0,350082,0,0,,,,,0,69790,0,0,0,33096,0,0 +17-43094122-C-T,17,43094122,rs1567799713,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser470Asn,p.Ser470Asn,c.1409G>A,missense_variant,Conflicting interpretations of pathogenicity,627698,,4,1461786,0.000002736378649131952,0,0,afr,0.000039819999999999975,11.7,0.434,0.00,0.00,2.54,0.0300,0.163,4,33480,0,0,0,44724,0,0,0,26132,0,0,0,39684,0,0,0,53378,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86248,0,0,0,60394,0,0 +17-43094123-T-C,17,43094123,rs2053942184,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser470Gly,p.Ser470Gly,c.1408A>G,missense_variant,Conflicting interpretations of pathogenicity,846197,,1,628686,0.0000015906191644159405,0,0,,,11.6,0.538,0.00,0.00,0.737,0.140,0.163,0,17694,0,0,1,43740,0,0,0,20980,0,0,0,36056,0,0,0,53104,0,0,0,4148,0,0,0,350080,0,0,,,,,0,69788,0,0,0,33096,0,0 +17-43094126-C-T,17,43094126,rs397507187,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala469Thr,p.Ala469Thr,c.1405G>A,missense_variant,Conflicting interpretations of pathogenicity,37411,,3,628666,0.0000047720093022368,0,0,,,2.44,0.642,0.00,0.00,0.0490,0.230,0.255,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36056,0,0,0,53090,0,0,0,4148,0,0,0,350076,0,0,,,,,1,69790,0,0,2,33094,0,0 +17-43094127-C-T,17,43094127,rs1555591782,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys468Lys,p.Lys468Lys,c.1404G>A,synonymous_variant,Likely benign,479228,,1,833110,0.0000012003216862119048,0,0,,,5.88,,0.00,0.00,4.16,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094130-C-T,17,43094130,rs786201323,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys467Lys,p.Lys467Lys,c.1401G>A,synonymous_variant,Likely benign,184191,,29,1613982,0.000017967982294722,0,0,nfe,0.00001567,8.27,,0.00,0.0100,3.35,,,0,74938,0,0,2,59992,0,0,0,29602,0,0,0,44892,0,0,0,63996,0,0,0,6084,0,0,27,1180012,0,0,0,912,0,0,0,91072,0,0,0,62482,0,0 +17-43094132-T-G,17,43094132,rs80357279,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys467Gln,p.Lys467Gln,c.1399A>C,missense_variant,,,,1,628670,0.0000015906596465554266,0,0,,,22.8,0.485,0.00,0.00,3.78,0.00,0.201,0,17690,0,0,0,43738,0,0,0,20978,0,0,0,36056,0,0,0,53102,0,0,0,4148,0,0,0,350078,0,0,,,,,0,69788,0,0,1,33092,0,0 +17-43094134-C-T,17,43094134,rs199540030,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg466Gln,p.Arg466Gln,c.1397G>A,missense_variant,Conflicting interpretations of pathogenicity,91552,,15,1613972,0.000009293841528849323,0,0,amr,0.000054339999999999985,13.1,0.546,0.00,0.00,0.400,0.290,0.472,0,74996,0,0,7,60000,0,0,0,29596,0,0,0,44874,0,0,0,63980,0,0,1,6062,0,0,6,1179990,0,0,0,912,0,0,0,91060,0,0,1,62502,0,0 +17-43094135-G-C,17,43094135,rs80356964,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg466Gly,p.Arg466Gly,c.1396C>G,missense_variant,Conflicting interpretations of pathogenicity,54240,,3,1461768,0.0000020523092583775265,0,0,,,17.4,0.478,0.00,0.0100,1.28,0.0700,0.667,0,33474,0,0,0,44722,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,3,5768,0,0,0,1111976,0,0,,,,,0,86244,0,0,0,60388,0,0 +17-43094135-G-A,17,43094135,rs80356964,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg466Trp,p.Arg466Trp,c.1396C>T,missense_variant,Conflicting interpretations of pathogenicity,37410,,15,1613874,0.000009294405882987147,0,0,nfe,0.00000615,22.7,0.474,0.00,0.0100,1.28,0.00,0.999,0,74896,0,0,1,59982,0,0,0,29596,0,0,1,44882,0,0,0,63966,0,0,0,6084,0,0,13,1180002,0,0,0,912,0,0,0,91074,0,0,0,62480,0,0 +17-43094139-G-A,17,43094139,rs533802049,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr464Thr,p.Thr464Thr,c.1392C>T,synonymous_variant,Benign,136541,,45,1613974,0.000027881490036394637,0,0,eas,0.0006728700000000001,6.39,,0.00,0.00,0.676,,,0,75006,0,0,1,59986,0,0,0,29600,0,0,40,44872,0,0,0,63978,0,0,0,6062,0,0,1,1179988,0,0,0,912,0,0,0,91074,0,0,3,62496,0,0 +17-43094140-G-A,17,43094140,rs62625301,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr464Ile,p.Thr464Ile,c.1391C>T,missense_variant,Conflicting interpretations of pathogenicity,54237,,6,1461734,0.000004104713990370341,0,0,nfe,0.00000194,25.2,0.867,0.00,0.00,7.02,0.00,0.995,0,33460,0,0,0,44714,0,0,0,26132,0,0,0,39686,0,0,0,53368,0,0,0,5768,0,0,6,1111972,0,0,,,,,0,86246,0,0,0,60388,0,0 +17-43094142-T-C,17,43094142,rs2154449126,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys463Lys,p.Lys463Lys,c.1389A>G,synonymous_variant,Likely benign,1630481,,1,628642,0.0000015907304952580323,0,0,,,10.2,,0.00,0.00,1.06,,,0,17674,0,0,0,43730,0,0,0,20976,0,0,0,36056,0,0,0,53110,0,0,0,4148,0,0,1,350072,0,0,,,,,0,69786,0,0,0,33090,0,0 +17-43094145-C-T,17,43094145,rs876659749,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly462Gly,p.Gly462Gly,c.1386G>A,synonymous_variant,Likely benign,232413,,7,780814,0.000008965003188979706,0,0,afr,0.00001347,10.1,,0.00,0.00,1.39,,,3,59124,0,0,1,59004,0,0,0,24448,0,0,0,41254,0,0,0,63710,0,0,0,4464,0,0,3,418104,0,0,0,912,0,0,0,74616,0,0,0,35178,0,0 +17-43094147-C-T,17,43094147,rs80357221,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly462Arg,p.Gly462Arg,c.1384G>A,missense_variant,Conflicting interpretations of pathogenicity,54230,,22,1613866,0.000013631862868416585,0,0,nfe,0.0000103,24.6,0.899,0.00,0.00,5.96,0.0200,0.998,1,74884,0,0,0,59976,0,0,0,29600,0,0,0,44886,0,0,0,63982,0,0,0,6084,0,0,19,1180002,0,0,0,912,0,0,0,91062,0,0,2,62478,0,0 +17-43094148-A-T,17,43094148,rs56046357,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe461Leu,p.Phe461Leu,c.1383T>A,missense_variant,Benign,54228,,7,985308,0.000007104377514442185,0,0,nfe,0.0000035100000000000003,24.0,0.846,0.00,0.00,0.454,0.00,1.00,0,57248,0,0,0,16258,0,0,0,8624,0,0,0,8832,0,0,0,10880,0,0,0,1936,0,0,7,829936,0,0,0,912,0,0,0,21294,0,0,0,29388,0,0 +17-43094150-A-G,17,43094150,rs62625300,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe461Leu,p.Phe461Leu,c.1381T>C,missense_variant,Conflicting interpretations of pathogenicity,54227,,10,1613934,0.0000061960402346068674,0,0,nfe,0.0000035900000000000004,26.6,0.936,0.00,0.00,6.33,0.00,1.00,0,74900,0,0,0,59974,0,0,0,29600,0,0,0,44892,0,0,0,64000,0,0,0,6084,0,0,9,1180012,0,0,0,912,0,0,1,91082,0,0,0,62478,0,0 +17-43094151-T-C,17,43094151,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile460Met,p.Ile460Met,c.1380A>G,missense_variant,,,,1,628626,0.000001590770983064652,0,0,,,23.5,0.855,0.00,0.00,2.21,0.00,0.999,0,17672,0,0,0,43728,0,0,0,20976,0,0,1,36056,0,0,0,53110,0,0,0,4148,0,0,0,350070,0,0,,,,,0,69780,0,0,0,33086,0,0 +17-43094152-A-G,17,43094152,rs398122634,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile460Thr,p.Ile460Thr,c.1379T>C,missense_variant,Conflicting interpretations of pathogenicity,843219,,1,628626,0.000001590770983064652,0,0,,,25.4,0.918,0.00,0.00,6.33,0.00,0.998,0,17672,0,0,0,43728,0,0,0,20978,0,0,0,36056,0,0,0,53106,0,0,0,4148,0,0,0,350072,0,0,,,,,0,69780,0,0,1,33086,0,0 +17-43094155-T-G,17,43094155,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys459Thr,p.Lys459Thr,c.1376A>C,missense_variant,,,,1,1461734,6.841189983950568e-7,0,0,,,24.6,0.676,0.00,0.00,2.35,0.00,0.990,0,33458,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,1,1111968,0,0,,,,,0,86244,0,0,0,60386,0,0 +17-43094155-T-A,17,43094155,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys459Ile,p.Lys459Ile,c.1376A>T,missense_variant,,,,1,1461734,6.841189983950568e-7,0,0,,,25.0,0.615,0.00,0.00,2.35,0.00,0.973,0,33458,0,0,0,44714,0,0,0,26130,0,0,0,39686,0,0,0,53380,0,0,0,5768,0,0,0,1111968,0,0,,,,,1,86244,0,0,0,60386,0,0 +17-43094157-G-T,17,43094157,rs879253999,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp458Glu,p.Asp458Glu,c.1374C>A,missense_variant,Conflicting interpretations of pathogenicity,245916,,1,1461714,6.841283588992101e-7,0,0,,,21.7,0.694,0.00,0.00,0.516,0.00,0.980,0,33458,0,0,0,44708,0,0,0,26130,0,0,0,39686,0,0,0,53374,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86238,0,0,0,60386,0,0 +17-43094157-G-A,17,43094157,rs879253999,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp458Asp,p.Asp458Asp,c.1374C>T,synonymous_variant,Likely benign,427249,,2,1461714,0.0000013682567177984201,0,0,,,5.45,,0.00,0.00,0.516,,,0,33458,0,0,0,44708,0,0,0,26130,0,0,1,39686,0,0,0,53374,0,0,0,5768,0,0,1,1111966,0,0,,,,,0,86238,0,0,0,60386,0,0 +17-43094164-A-G,17,43094164,rs80357360,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile456Thr,p.Ile456Thr,c.1367T>C,missense_variant,Conflicting interpretations of pathogenicity,54222,,5,1614086,0.000003097728373828904,0,0,nfe,6.800000000000001e-7,21.4,0.613,0.00,0.00,2.33,0.0200,0.919,1,75050,0,0,0,60018,0,0,0,29596,0,0,0,44878,0,0,0,63994,0,0,0,6062,0,0,3,1180004,0,0,0,912,0,0,0,91072,0,0,1,62500,0,0 +17-43094168-T-A,17,43094168,rs1468740591,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn455Tyr,p.Asn455Tyr,c.1363A>T,missense_variant,,,,1,152226,0.000006569180034948038,0,0,,,15.1,0.525,0.00,0.00,1.85,,,0,41466,0,0,0,15272,0,0,0,3472,0,0,0,5206,0,0,0,10614,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43094169-ACT-A,17,43094169,rs80357969,ACT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser454Ter,p.Ser454Ter,c.1360_1361del,frameshift_variant,Pathogenic,37406,,3,628660,0.000004772054846817039,0,0,nfe,0.00000228,14.8,,0.00,0.0100,0.311,,,0,17686,0,0,0,43740,0,0,0,20978,0,0,0,36056,0,0,0,53094,0,0,0,4148,0,0,3,350076,0,0,,,,,0,69790,0,0,0,33092,0,0 +17-43094170-C-T,17,43094170,rs80357181,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser454Asn,p.Ser454Asn,c.1361G>A,missense_variant,Conflicting interpretations of pathogenicity,54220,,3,152194,0.000019711683772027807,0,0,afr,0.00001919,0.188,0.528,0.00,0.00,0.0570,0.700,0.0600,3,41456,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10610,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43094173-T-C,17,43094173,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu453Gly,p.Glu453Gly,c.1358A>G,missense_variant,,,,1,628636,0.000001590745677943993,0,0,,,14.1,0.444,0.00,0.00,0.479,0.0400,0.617,0,17680,0,0,0,43736,0,0,0,20976,0,0,0,36056,0,0,0,53086,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69782,0,0,0,33090,0,0 +17-43094174-C-G,17,43094174,rs768054411,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu453Gln,p.Glu453Gln,c.1357G>C,missense_variant,Conflicting interpretations of pathogenicity,423223,,7,1613946,0.000004337195916096325,0,0,afr,0.000017460000000000002,15.8,0.576,0.00,0.00,1.20,0.0300,0.930,4,74924,0,0,0,59996,0,0,0,29596,0,0,2,44890,0,0,0,63970,0,0,0,6084,0,0,1,1180028,0,0,0,912,0,0,0,91068,0,0,0,62478,0,0 +17-43094174-CT-C,17,43094174,rs80357939,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu453ArgfsTer22,p.Glu453ArgfsTer22,c.1356del,frameshift_variant,Pathogenic,125495,,1,1461752,6.841105741603227e-7,0,0,,,16.7,,0.00,0.00,1.20,,,0,33472,0,0,0,44724,0,0,0,26126,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86244,0,0,0,60388,0,0 +17-43094177-C-T,17,43094177,rs2154455068,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val452Ile,p.Val452Ile,c.1354G>A,missense_variant,Conflicting interpretations of pathogenicity,1410648,,1,628646,0.0000015907203736284014,0,0,,,10.5,0.557,0.00,0.00,0.442,0.150,0.491,0,17688,0,0,0,43738,0,0,0,20978,0,0,0,36056,0,0,0,53074,0,0,0,4148,0,0,1,350082,0,0,,,,,0,69792,0,0,0,33090,0,0 +17-43094178-T-C,17,43094178,rs1178888270,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser451Ser,p.Ser451Ser,c.1353A>G,synonymous_variant,Likely benign,506497,,6,1461744,0.00000410468590943421,0,0,nfe,0.00000194,4.95,,0.00,0.00,0.165,,,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39686,0,0,0,53362,0,0,0,5768,0,0,6,1111974,0,0,,,,,0,86244,0,0,0,60388,0,0 +17-43094179-G-A,17,43094179,rs80356891,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser451Leu,p.Ser451Leu,c.1352C>T,missense_variant,,,,2,833102,0.0000024006664249995797,0,0,nfe,4.4e-7,20.1,0.474,0.00,0.00,1.62,0.0200,0.0380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761898,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43094182-T-C,17,43094182,rs778668550,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys450Arg,p.Lys450Arg,c.1349A>G,missense_variant,Conflicting interpretations of pathogenicity,1471719,,4,628658,0.000006362760038049305,0,0,nfe,0.0000036699999999999996,14.1,0.538,0.00,0.00,1.44,0.100,0.443,0,17692,0,0,0,43736,0,0,0,20980,0,0,0,36056,0,0,0,53082,0,0,0,4148,0,0,4,350086,0,0,,,,,0,69786,0,0,0,33092,0,0 +17-43094189-G-A,17,43094189,rs786203578,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His448Tyr,p.His448Tyr,c.1342C>T,missense_variant,Conflicting interpretations of pathogenicity,187241,,6,780802,0.00000768440654608979,0,0,afr,0.000032689999999999994,3.11,0.561,0.00,0.00,0.567,1.00,0.0600,5,59126,0,0,0,59002,0,0,0,24452,0,0,0,41258,0,0,0,63668,0,0,0,4464,0,0,0,418126,0,0,0,910,0,0,0,74612,0,0,1,35184,0,0 +17-43094191-A-G,17,43094191,rs2154457435,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val447Ala,p.Val447Ala,c.1340T>C,missense_variant,Conflicting interpretations of pathogenicity,1410408,,1,628668,0.0000015906647069677476,0,0,,,4.88,0.573,0.00,0.00,0.130,0.820,0.643,0,17694,0,0,0,43736,0,0,0,20980,0,0,1,36056,0,0,0,53076,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43094192-C-T,17,43094192,rs587782784,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val447Ile,p.Val447Ile,c.1339G>A,missense_variant,Conflicting interpretations of pathogenicity,142873,,1,833094,0.0000012003447390090433,0,0,,,5.26,0.574,0.00,0.00,0.218,0.360,0.304,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761888,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094195-T-C,17,43094195,rs587781715,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg446Gly,p.Arg446Gly,c.1336A>G,missense_variant,Conflicting interpretations of pathogenicity,141392,,3,780882,0.000003841809646015659,0,0,afr,0.00001346,19.6,0.530,0.00,0.00,2.31,0.0500,0.737,3,59142,0,0,0,59012,0,0,0,24452,0,0,0,41260,0,0,0,63700,0,0,0,4464,0,0,0,418134,0,0,0,912,0,0,0,74622,0,0,0,35184,0,0 +17-43094198-C-G,17,43094198,rs80356915,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu445Gln,p.Glu445Gln,c.1333G>C,missense_variant,Conflicting interpretations of pathogenicity,54203,,19,780828,0.00002433314379095012,0,0,sas,0.00004388999999999999,20.6,0.526,0.00,0.00,1.22,0.0100,0.989,0,59120,0,0,1,59012,0,0,0,24452,0,0,0,41252,0,0,0,63684,0,0,0,4464,0,0,9,418128,0,0,0,912,0,0,7,74620,0,0,2,35184,0,0 +17-43094202-T-C,17,43094202,rs771892131,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys443Lys,p.Lys443Lys,c.1329A>G,synonymous_variant,Likely benign,427305,,11,628670,0.000017497256112109692,0,0,,,8.33,,0.00,0.00,0.733,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,10,53076,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43094205-A-T,17,43094205,rs397508854,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys442Ter,p.Cys442Ter,c.1326T>A,stop_gained,Pathogenic,54202,,2,833108,0.0000024006491355262463,0,0,nfe,4.4e-7,33.0,,0.00,0.00,-0.100,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094206-C-T,17,43094206,rs1285425507,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Cys442Tyr,p.Cys442Tyr,c.1325G>A,missense_variant,,,,1,152160,0.000006572029442691903,0,0,,,9.06,0.517,0.00,0.00,-0.415,,,1,41436,0,0,0,15264,0,0,0,3470,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43094209-A-G,17,43094209,rs1163497041,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile441Thr,p.Ile441Thr,c.1322T>C,missense_variant,Conflicting interpretations of pathogenicity,818924,,1,628670,0.0000015906596465554266,0,0,,,4.54,0.595,0.00,0.00,0.251,0.450,0.444,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36056,0,0,0,53074,0,0,0,4148,0,0,0,350090,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094210-T-C,17,43094210,rs1567800029,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile441Val,p.Ile441Val,c.1321A>G,missense_variant,Conflicting interpretations of pathogenicity,628756,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,0.505,0.626,0.00,0.00,-0.573,0.370,0.241,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094213-A-T,17,43094213,rs2154459050,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu440Ile,p.Leu440Ile,c.1318T>A,missense_variant,,,,1,628690,0.0000015906090442030254,0,0,,,4.18,0.600,0.00,0.00,-0.401,0.0600,0.893,0,17694,0,0,0,43740,0,0,1,20980,0,0,0,36058,0,0,0,53090,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094213-A-G,17,43094213,rs2154459050,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu440Leu,p.Leu440Leu,c.1318T>C,synonymous_variant,,,,1,628690,0.0000015906090442030254,0,0,,,1.89,,0.00,0.00,-0.401,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36058,0,0,0,53090,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094214-A-G,17,43094214,rs1555591949,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Ala,p.Ala439Ala,c.1317T>C,synonymous_variant,Likely benign,462557,,2,1461796,0.0000013681799649198658,0,0,nfe,2.999999999999999e-7,7.17,,0.00,0.00,0.992,,,0,33480,0,0,0,44722,0,0,0,26132,0,0,0,39688,0,0,0,53366,0,0,0,5768,0,0,2,1111994,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43094215-G-C,17,43094215,rs777132211,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Gly,p.Ala439Gly,c.1316C>G,missense_variant,Conflicting interpretations of pathogenicity,862887,,3,628678,0.0000047719182156843405,0,0,eas,0.00002205,15.3,0.457,0.00,0.00,0.365,0.0200,0.0630,0,17694,0,0,0,43740,0,0,0,20980,0,0,3,36058,0,0,0,53076,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094216-C-A,17,43094216,rs1064794098,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala439Ser,p.Ala439Ser,c.1315G>T,missense_variant,Conflicting interpretations of pathogenicity,419772,,1,628682,0.0000015906292847576358,0,0,,,0.0200,0.554,0.00,0.00,-0.227,0.0500,0.176,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36058,0,0,0,53080,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094216-C-T,17,43094216,rs1064794098,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala439Thr,p.Ala439Thr,c.1315G>A,missense_variant,Conflicting interpretations of pathogenicity,818886,,1,152136,0.000006573066203922806,0,0,,,0.0290,0.551,0.00,0.00,-0.227,0.230,0.0440,0,41414,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10602,0,0,0,316,0,0,1,68036,0,0,0,910,0,0,0,4824,0,0,0,2092,0,0 +17-43094221-T-C,17,43094221,rs80357255,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His437Arg,p.His437Arg,c.1310A>G,missense_variant,Conflicting interpretations of pathogenicity,633088,,4,1461824,0.000002736307517184011,0,0,nfe,2.999999999999999e-7,12.5,0.542,0.00,0.00,-2.02,0.0400,0.196,0,33480,0,0,1,44724,0,0,0,26132,0,0,1,39690,0,0,0,53382,0,0,0,5768,0,0,2,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094222-G-A,17,43094222,rs759878392,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His437Tyr,p.His437Tyr,c.1309C>T,missense_variant,Conflicting interpretations of pathogenicity,491029,,8,1461804,0.000005472689909180711,0,0,nfe,0.0000031,10.0,0.536,0.00,0.00,1.46,0.0800,0.285,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53372,0,0,0,5768,0,0,8,1111994,0,0,,,,,0,86250,0,0,0,60394,0,0 +17-43094223-A-G,17,43094223,rs770279083,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro436Pro,p.Pro436Pro,c.1308T>C,synonymous_variant,Likely benign,186850,,5,1614012,0.000003097870399972243,0,0,nfe,0.0000012399999999999998,7.74,,0.00,0.00,-0.00200,,,0,74920,0,0,0,59994,0,0,0,29600,0,0,0,44890,0,0,0,63996,0,0,0,6084,0,0,5,1180044,0,0,0,912,0,0,0,91084,0,0,0,62488,0,0 +17-43094223-A-C,17,43094223,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro436Pro,p.Pro436Pro,c.1308T>G,synonymous_variant,,,,1,1461818,6.84079687074588e-7,0,0,,,7.38,,0.00,0.00,-0.00200,,,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53376,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094225-G-A,17,43094225,rs1198367014,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro436Ser,p.Pro436Ser,c.1306C>T,missense_variant,,,,1,628696,0.0000015905938641251098,0,0,,,11.7,0.518,0.00,0.00,1.18,0.110,0.612,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53096,0,0,0,4148,0,0,0,350092,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094226-ATCACTGGCCAGT-A,17,43094226,rs1263295759,ATCACTGGCCAGT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu431_Asp435delinsPhe,p.Leu431_Asp435delinsPhe,c.1293_1304del,inframe_deletion,,,,1,628704,0.0000015905736244719296,0,0,,,16.1,,0.00,0.00,-0.832,,,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36060,0,0,1,53098,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094230-C-T,17,43094230,rs1485510803,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser434Asn,p.Ser434Asn,c.1301G>A,missense_variant,Conflicting interpretations of pathogenicity,924513,,1,152206,0.000006570043230884459,0,0,,,3.11,0.547,0.00,0.00,0.726,0.450,0.196,0,41456,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43094231-T-TGG,17,43094231,,T,TGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434ProfsTer8,p.Ser434ProfsTer8,c.1298_1299dup,frameshift_variant,,,,1,1461802,6.840871745968332e-7,0,0,,,25.5,,0.00,0.00,-0.225,,,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,1,1111996,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094231-T-G,17,43094231,rs786203753,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434Arg,p.Ser434Arg,c.1300A>C,missense_variant,Conflicting interpretations of pathogenicity,837806,,1,1461802,6.840871745968332e-7,0,0,,,17.5,0.576,0.00,0.00,-0.225,0.0400,0.196,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39690,0,0,0,53366,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094231-T-A,17,43094231,rs786203753,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser434Cys,p.Ser434Cys,c.1300A>T,missense_variant,Conflicting interpretations of pathogenicity,2108999,,2,1461802,0.0000013681743491936664,0,0,,,17.6,0.555,0.00,0.00,-0.225,0.0100,0.315,1,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53366,0,0,0,5768,0,0,0,1111996,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43094236-A-G,17,43094236,rs369394098,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu432Pro,p.Leu432Pro,c.1295T>C,missense_variant,Conflicting interpretations of pathogenicity,156183,,2,1461818,0.000001368159374149176,0,0,eas,0.00000835,21.1,0.605,0.00,0.00,0.136,0.0300,0.139,0,33480,0,0,0,44724,0,0,0,26132,0,0,2,39690,0,0,0,53378,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094237-G-A,17,43094237,rs864622454,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu432Leu,p.Leu432Leu,c.1294C>T,synonymous_variant,Likely benign,220280,,1,152184,0.000006570993008463439,0,0,,,4.79,,0.00,0.00,-0.409,,,0,41452,0,0,0,15268,0,0,0,3468,0,0,0,5200,0,0,0,10610,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43094238-T-TA,17,43094238,rs80357528,T,TA,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu431PhefsTer5,p.Leu431PhefsTer5,c.1292dup,frameshift_variant,Pathogenic,54188,,1,152198,0.000006570388572780194,0,0,,,23.3,,0.00,0.0100,0.215,,,0,41450,0,0,0,15278,0,0,0,3468,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43094243-C-CT,17,43094243,rs80357576,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp430ArgfsTer6,p.Asp430ArgfsTer6,c.1287dup,frameshift_variant,Pathogenic,54186,,2,780892,0.000002561173632205222,0,0,,,23.5,,0.00,0.0100,1.20,,,0,59150,0,0,0,59010,0,0,0,24452,0,0,0,41258,0,0,0,63706,0,0,0,4464,0,0,2,418134,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 +17-43094245-AT-A,17,43094245,rs1567800172,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Ter,p.Ile429Ter,c.1285del,frameshift_variant,Pathogenic,579869,,1,1461814,6.84081558939783e-7,0,0,,,24.1,,0.00,0.0100,-0.343,,,0,33480,0,0,1,44722,0,0,0,26132,0,0,0,39690,0,0,0,53376,0,0,0,5768,0,0,0,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094245-A-G,17,43094245,rs775869160,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Thr,p.Ile429Thr,c.1286T>C,missense_variant,Conflicting interpretations of pathogenicity,187435,,8,1461814,0.000005472652471518264,0,0,afr,0.00000989,10.6,0.600,0.00,0.00,-0.343,0.620,0.656,2,33480,0,0,0,44722,0,0,0,26132,0,0,1,39690,0,0,0,53376,0,0,0,5768,0,0,4,1111998,0,0,,,,,1,86254,0,0,0,60394,0,0 +17-43094246-T-C,17,43094246,rs2154461561,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile429Val,p.Ile429Val,c.1285A>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,15.9,0.648,0.00,0.00,-0.0860,0.130,0.530,0,15786,0,0,0,982,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094253-T-G,17,43094253,rs1442003131,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser426Ser,p.Ser426Ser,c.1278A>C,synonymous_variant,Likely benign,481457,,1,833110,0.0000012003216862119048,0,0,,,9.43,,0.00,0.00,0.436,,,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094254-GA-G,17,43094254,rs80357766,GA,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser426GlnfsTer4,p.Ser426GlnfsTer4,c.1276del,frameshift_variant,Pathogenic,54184,,1,152094,0.000006574881323392112,0,0,,,23.5,,0.00,0.0100,4.81,,,1,41424,0,0,0,15258,0,0,0,3468,0,0,0,5194,0,0,0,10588,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4828,0,0,0,2086,0,0 +17-43094256-A-T,17,43094256,rs786201160,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser425Ser,p.Ser425Ser,c.1275T>A,synonymous_variant,Likely benign,183924,,16,1614046,0.000009912976457920034,0,0,nfe,0.00000803,9.49,,0.00,0.00,2.25,,,0,74936,0,0,0,59994,0,0,0,29602,0,0,0,44890,0,0,0,64008,0,0,0,6084,0,0,16,1180046,0,0,0,912,0,0,0,91088,0,0,0,62486,0,0 +17-43094257-G-A,17,43094257,rs1260879887,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser425Phe,p.Ser425Phe,c.1274C>T,missense_variant,,,,1,628716,0.0000015905432659579206,0,0,,,22.9,0.555,0.00,0.0100,3.45,0.0500,0.893,0,17692,0,0,0,43740,0,0,0,20980,0,0,1,36060,0,0,0,53110,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094258-A-G,17,43094258,rs1328261486,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser425Pro,p.Ser425Pro,c.1273T>C,missense_variant,Conflicting interpretations of pathogenicity,1721552,,1,152222,0.000006569352655989279,0,0,,,23.1,0.591,0.00,0.00,2.32,,,0,41460,0,0,0,15278,0,0,0,3470,0,0,1,5200,0,0,0,10614,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43094261-C-G,17,43094261,rs763051683,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly424Arg,p.Gly424Arg,c.1270G>C,missense_variant,Conflicting interpretations of pathogenicity,418958,,1,1461820,6.840787511458319e-7,0,0,,,13.4,0.512,0.00,0.00,0.520,0.0300,0.411,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53382,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094261-C-T,17,43094261,rs763051683,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly424Ser,p.Gly424Ser,c.1270G>A,missense_variant,Conflicting interpretations of pathogenicity,630131,,2,1461820,0.0000013681575022916638,0,0,sas,0.00000385,1.50,0.558,0.00,0.00,0.520,0.910,0.0520,0,33478,0,0,0,44724,0,0,0,26132,0,0,0,39690,0,0,0,53382,0,0,0,5768,0,0,0,1112000,0,0,,,,,2,86252,0,0,0,60394,0,0 +17-43094263-G-C,17,43094263,rs2154463118,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser423Cys,p.Ser423Cys,c.1268C>G,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,22.1,0.568,0.00,0.00,1.42,0.0200,0.630,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094267-A-G,17,43094267,rs764186025,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr422His,p.Tyr422His,c.1264T>C,missense_variant,Conflicting interpretations of pathogenicity,441286,,1,152154,0.000006572288602337106,0,0,,,9.95,0.482,0.00,0.00,-0.457,0.390,0.111,1,41442,0,0,0,15268,0,0,0,3466,0,0,0,5188,0,0,0,10608,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43094268-T-G,17,43094268,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu421Asp,p.Glu421Asp,c.1263A>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,9.56,0.640,0.00,0.00,-0.343,0.110,0.266,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094272-T-C,17,43094272,rs730881442,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp420Gly,p.Asp420Gly,c.1259A>G,missense_variant,Conflicting interpretations of pathogenicity,182076,,23,1614088,0.000014249532863140052,0,0,nfe,0.00001298,9.08,0.586,0.0200,0.210,-0.422,0.0800,0.104,0,74952,0,0,0,60006,0,0,0,29604,0,0,0,44896,0,0,0,64010,0,0,0,6084,0,0,23,1180050,0,0,0,912,0,0,0,91090,0,0,0,62484,0,0 +17-43094273-C-A,17,43094273,rs80357488,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp420Tyr,p.Asp420Tyr,c.1258G>T,missense_variant,Conflicting interpretations of pathogenicity,54178,,20,1614062,0.00001239109773973986,0,0,amr,0.00001327,18.1,0.474,0.00,0.0100,0.773,0.00,0.951,0,74942,0,0,3,59996,0,0,0,29604,0,0,0,44892,0,0,0,64016,0,0,0,6084,0,0,14,1180042,0,0,0,912,0,0,0,91088,0,0,3,62486,0,0 +17-43094274-T-A,17,43094274,rs751690840,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Val,p.Val419Val,c.1257A>T,synonymous_variant,Likely benign,383475,,2,628730,0.000003181015698312471,0,0,amr,0.000007580000000000001,4.28,,0.00,0.00,0.851,,,0,17692,0,0,2,43740,0,0,0,20982,0,0,0,36060,0,0,0,53120,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094274-T-C,17,43094274,rs751690840,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Val,p.Val419Val,c.1257A>G,synonymous_variant,Likely benign,482888,,1,628730,0.0000015905078491562355,0,0,,,4.84,,0.00,0.00,0.851,,,1,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53120,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094275-A-C,17,43094275,rs398122628,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Gly,p.Val419Gly,c.1256T>G,missense_variant,Conflicting interpretations of pathogenicity,91542,,2,628730,0.000003181015698312471,0,0,nfe,9.5e-7,7.24,0.575,0.00,0.00,-1.24,0.0400,0.380,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53116,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094275-A-G,17,43094275,rs398122628,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Ala,p.Val419Ala,c.1256T>C,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,4.75,0.617,0.00,0.00,-1.24,0.220,0.380,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53116,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094276-C-G,17,43094276,rs876658873,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val419Leu,p.Val419Leu,c.1255G>C,missense_variant,Conflicting interpretations of pathogenicity,230967,,2,1461828,0.0000013681500149128352,0,0,,,7.70,0.565,0.00,0.00,1.03,0.170,0.649,0,33478,0,0,0,44724,0,0,0,26132,0,0,1,39690,0,0,0,53394,0,0,0,5768,0,0,0,1111994,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43094277-C-T,17,43094277,rs786201948,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu418Glu,p.Glu418Glu,c.1254G>A,synonymous_variant,Likely benign,185128,,1,628734,0.0000015904977303597388,0,0,,,0.443,,0.00,0.00,0.597,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53124,0,0,0,4148,0,0,0,350098,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094278-T-G,17,43094278,rs1555592050,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu418Ala,p.Glu418Ala,c.1253A>C,missense_variant,Conflicting interpretations of pathogenicity,481489,,14,833108,0.000016804543948683724,0,0,nfe,0.00001066,12.1,0.498,0.00,0.00,1.53,0.0900,0.812,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,14,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094280-A-G,17,43094280,rs80357197,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Asn,p.Asn417Asn,c.1251T>C,synonymous_variant,Likely benign,512577,,3,628740,0.0000047714476572192,0,0,eas,0.00002205,0.716,,0.00,0.00,-0.619,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,3,36060,0,0,0,53126,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094280-A-C,17,43094280,rs80357197,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Lys,p.Asn417Lys,c.1251T>G,missense_variant,Conflicting interpretations of pathogenicity,54175,,1,628740,0.0000015904825524064001,0,0,,,0.845,0.444,0.00,0.00,-0.619,0.310,0.444,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53126,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094281-T-C,17,43094281,rs80357113,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn417Ser,p.Asn417Ser,c.1250A>G,missense_variant,Conflicting interpretations of pathogenicity,54174,,28,1461842,0.000019153916770759084,0,0,nfe,0.000014599999999999999,4.07,0.322,0.00,0.0100,0.721,0.370,0.348,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,1,53404,0,0,2,5768,0,0,24,1111996,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43094283-T-C,17,43094283,rs1057522369,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu416Leu,p.Leu416Leu,c.1248A>G,synonymous_variant,Conflicting interpretations of pathogenicity,385932,,1,833108,0.0000012003245677631232,0,0,,,4.36,,0.00,0.00,-0.0450,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094287-A-G,17,43094287,rs1064796031,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val415Ala,p.Val415Ala,c.1244T>C,missense_variant,Conflicting interpretations of pathogenicity,422833,,1,628740,0.0000015904825524064001,0,0,,,8.62,0.539,0.00,0.00,1.79,0.290,0.491,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094288-C-T,17,43094288,rs587782770,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val415Ile,p.Val415Ile,c.1243G>A,missense_variant,Conflicting interpretations of pathogenicity,142855,,41,1614036,0.000025402159555301122,0,0,amr,0.00010202999999999998,2.00,0.628,0.00,0.00,0.0450,0.250,0.477,0,74926,0,0,11,59996,0,0,0,29602,0,0,4,44890,0,0,22,64018,0,0,0,6084,0,0,2,1180040,0,0,0,912,0,0,1,91084,0,0,1,62484,0,0 +17-43094289-G-A,17,43094289,rs372400428,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp414Asp,p.Asp414Asp,c.1242C>T,synonymous_variant,Likely benign,184215,,30,1614034,0.00001858696904774001,0,0,amr,0.00007732999999999998,1.87,,0.00,0.00,0.291,,,1,75016,0,0,9,59988,0,0,0,29604,0,0,0,44876,0,0,0,63984,0,0,0,6062,0,0,15,1180012,0,0,0,910,0,0,5,91076,0,0,0,62506,0,0 +17-43094290-T-A,17,43094290,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp414Val,p.Asp414Val,c.1241A>T,missense_variant,,,,5,1461852,0.0000034203188831701157,0,0,nfe,0.0000013199999999999999,19.0,0.486,0.00,0.0100,0.717,0.00,0.266,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,5,1112000,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094294-A-G,17,43094294,rs574008372,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu413Leu,p.Leu413Leu,c.1237T>C,synonymous_variant,Likely benign,187539,,10,1614148,0.000006195218777955924,0,0,afr,0.00006224999999999998,1.49,,0.00,0.00,-0.448,,,9,75042,0,0,0,60014,0,0,0,29604,0,0,0,44886,0,0,0,64008,0,0,0,6062,0,0,0,1180032,0,0,0,912,0,0,1,91078,0,0,0,62510,0,0 +17-43094294-A-C,17,43094294,rs574008372,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu413Val,p.Leu413Val,c.1237T>G,missense_variant,Likely benign,479198,,3,1461850,0.000002052194137565414,0,0,nfe,7.200000000000001e-7,1.51,0.602,0.00,0.00,-0.448,0.440,0.0440,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,3,1112004,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094297-CAT-C,17,43094297,rs397508848,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411GlyfsTer7,p.Asp411GlyfsTer7,c.1232_1233del,frameshift_variant,Pathogenic,54169,,1,1461848,6.840656484121468e-7,0,0,,,15.0,,0.00,0.0100,1.68,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43094297-C-G,17,43094297,rs587776478,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val412Leu,p.Val412Leu,c.1234G>C,missense_variant,,,,1,1461848,6.840656484121468e-7,0,0,,,10.3,0.588,0.00,0.00,1.68,0.0200,0.232,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,1,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43094297-C-T,17,43094297,rs587776478,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val412Ile,p.Val412Ile,c.1234G>A,missense_variant,Conflicting interpretations of pathogenicity,156182,,1,1461848,6.840656484121468e-7,0,0,,,3.80,0.534,0.00,0.00,1.68,0.130,0.0680,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53400,0,0,0,5768,0,0,0,1112004,0,0,,,,,1,86254,0,0,0,60392,0,0 +17-43094298-A-C,17,43094298,rs80357024,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp411Glu,p.Asp411Glu,c.1233T>G,missense_variant,Benign,41804,,41,1614214,0.00002539935844937536,0,0,afr,0.00028752000000000015,0.518,0.639,0.00,0.0100,-1.02,0.160,0.00700,30,75080,0,0,4,60014,0,0,0,29606,0,0,0,44888,0,0,0,64022,0,0,0,6062,0,0,1,1180036,0,0,0,912,0,0,0,91088,0,0,6,62506,0,0 +17-43094300-C-G,17,43094300,rs80357301,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411His,p.Asp411His,c.1231G>C,missense_variant,Conflicting interpretations of pathogenicity,929252,,1,628734,0.0000015904977303597388,0,0,,,13.2,0.519,0.00,0.00,1.25,0.0400,0.0620,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36062,0,0,0,53120,0,0,0,4148,0,0,0,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094300-C-T,17,43094300,rs80357301,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp411Asn,p.Asp411Asn,c.1231G>A,missense_variant,Conflicting interpretations of pathogenicity,54168,,2,628734,0.0000031809954607194776,0,0,nfe,9.5e-7,9.33,0.185,0.00,0.0100,1.25,0.170,0.0260,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36062,0,0,0,53120,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094303-C-G,17,43094303,rs779974365,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala410Pro,p.Ala410Pro,c.1228G>C,missense_variant,Conflicting interpretations of pathogenicity,1754889,,1,1461846,6.840665843050499e-7,0,0,,,17.8,0.596,0.00,0.00,0.948,0.0200,0.887,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53404,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43094303-C-T,17,43094303,rs779974365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala410Thr,p.Ala410Thr,c.1228G>A,missense_variant,Conflicting interpretations of pathogenicity,246448,,3,1614040,0.0000018586899952913187,0,0,afr,0.00001063,8.54,0.611,0.00,0.00,0.948,0.150,0.759,3,74926,0,0,0,59998,0,0,0,29604,0,0,0,44896,0,0,0,64014,0,0,0,6084,0,0,0,1180036,0,0,0,912,0,0,0,91088,0,0,0,62482,0,0 +17-43094304-T-C,17,43094304,rs149349675,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val409Val,p.Val409Val,c.1227A>G,synonymous_variant,Likely benign,185871,,1,152216,0.0000065696116045619385,0,0,,,3.61,,0.00,0.00,0.270,,,0,41462,0,0,0,15276,0,0,0,3470,0,0,0,5196,0,0,0,10620,0,0,0,316,0,0,1,68036,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43094307-T-C,17,43094307,rs2154465949,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys408Lys,p.Lys408Lys,c.1224A>G,synonymous_variant,,,,1,628748,0.0000015904623155858944,0,0,,,4.00,,0.00,0.0100,0.890,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094309-T-C,17,43094309,rs80357253,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys408Glu,p.Lys408Glu,c.1222A>G,missense_variant,Conflicting interpretations of pathogenicity,37399,,41,1461860,0.00002804646135744873,0,0,nfe,0.00002743,2.38,0.550,0.00,0.0100,0.160,1.00,0.00100,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53410,0,0,0,5768,0,0,41,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43094313-A-G,17,43094313,rs2053974420,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn406Asn,p.Asn406Asn,c.1218T>C,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,4.84,,0.00,0.0100,-0.143,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094316-TGATTCA-T,17,43094316,,TGATTCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu404_Ser405del,p.Glu404_Ser405del,c.1209_1214del,inframe_deletion,,,,1,1461858,6.840609689860438e-7,0,0,,,11.1,,0.00,0.00,-0.00200,,,0,33480,0,0,0,44722,0,0,0,26134,0,0,1,39692,0,0,0,53412,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86254,0,0,0,60392,0,0 +17-43094316-TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA-T,17,43094316,rs80359874,TGATTCAGACTCCCCATCATGTGAGTCATCAGAACCTAACA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu392GlnfsTer5,p.Leu392GlnfsTer5,c.1175_1214del,frameshift_variant,Pathogenic,17665,,12,1614088,0.000007434538885116548,0,0,nfe,0.00000429,25.9,,0.00,0.0200,-0.00200,,,0,74942,0,0,0,60000,0,0,0,29604,0,0,0,44888,0,0,0,64036,0,0,0,6084,0,0,10,1180048,0,0,0,912,0,0,0,91092,0,0,2,62482,0,0 +17-43094316-T-C,17,43094316,rs786201517,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser405Ser,p.Ser405Ser,c.1215A>G,synonymous_variant,Likely benign,184519,,2,1614088,0.0000012390898141860915,0,0,,,6.63,,0.00,0.00,-0.00200,,,0,74942,0,0,0,60000,0,0,0,29604,0,0,0,44888,0,0,0,64036,0,0,0,6084,0,0,2,1180048,0,0,0,912,0,0,0,91092,0,0,0,62482,0,0 +17-43094317-G-C,17,43094317,rs80357481,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser405Ter,p.Ser405Ter,c.1214C>G,stop_gained,Pathogenic,96896,,1,1461816,6.840806230059049e-7,0,0,,,32.0,,0.00,0.0100,2.31,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53408,0,0,0,5768,0,0,1,1111982,0,0,,,,,0,86242,0,0,0,60388,0,0 +17-43094319-T-C,17,43094319,rs1057521863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu404Glu,p.Glu404Glu,c.1212A>G,synonymous_variant,Likely benign,384114,,4,628726,0.000006362071872325942,0,0,nfe,0.0000036699999999999996,5.34,,0.00,0.00,-0.451,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36060,0,0,0,53132,0,0,0,4148,0,0,4,350090,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43094321-C-G,17,43094321,rs753748171,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu404Gln,p.Glu404Gln,c.1210G>C,missense_variant,,,,4,1613986,0.000002478336243313139,0,0,sas,0.00000875,22.2,0.602,0.00,0.00,1.31,0.0100,0.926,0,74924,0,0,0,59996,0,0,0,29602,0,0,0,44890,0,0,0,64026,0,0,0,6084,0,0,0,1179992,0,0,0,912,0,0,3,91082,0,0,1,62478,0,0 +17-43094324-A-G,17,43094324,rs1555592200,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser403Pro,p.Ser403Pro,c.1207T>C,missense_variant,Conflicting interpretations of pathogenicity,481460,,2,628726,0.000003181035936162971,0,0,nfe,9.5e-7,5.08,0.637,0.00,0.00,-0.258,0.230,0.0490,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,0,53132,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43094324-A-C,17,43094324,rs1555592200,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser403Ala,p.Ser403Ala,c.1207T>G,missense_variant,Conflicting interpretations of pathogenicity,818573,,2,628726,0.000003181035936162971,0,0,,,4.18,0.580,0.00,0.00,-0.258,0.200,0.140,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36062,0,0,1,53132,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43094325-C-A,17,43094325,rs1283231905,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu402Asp,p.Glu402Asp,c.1206G>T,missense_variant,Conflicting interpretations of pathogenicity,1172310,,2,628724,0.000003181046055184787,0,0,,,0.299,0.587,0.00,0.00,-0.584,0.580,0.0880,0,17692,0,0,0,43740,0,0,0,20980,0,0,0,36062,0,0,0,53134,0,0,2,4148,0,0,0,350084,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43094329-C-T,17,43094329,rs397507184,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Glu,p.Gly401Glu,c.1202G>A,missense_variant,Conflicting interpretations of pathogenicity,37398,,10,1461830,0.000006840740715404664,0,0,eas,0.00013579999999999997,0.373,0.560,0.00,0.00,-0.647,0.400,0.0200,0,33480,0,0,0,44724,0,0,0,26134,0,0,10,39692,0,0,0,53412,0,0,0,5768,0,0,0,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43094329-C-G,17,43094329,rs397507184,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Ala,p.Gly401Ala,c.1202G>C,missense_variant,Conflicting interpretations of pathogenicity,91541,,2,1461830,0.0000013681481430809329,0,0,nfe,2.999999999999999e-7,0.328,0.543,0.00,0.0100,-0.647,0.290,0.219,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53412,0,0,0,5768,0,0,2,1111978,0,0,,,,,0,86252,0,0,0,60390,0,0 +17-43094330-C-T,17,43094330,rs1555592242,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly401Arg,p.Gly401Arg,c.1201G>A,missense_variant,Conflicting interpretations of pathogenicity,531230,,2,1461822,0.0000013681556304392737,0,0,nfe,2.999999999999999e-7,0.327,0.584,0.00,0.0100,-2.01,0.990,0.0200,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39692,0,0,0,53404,0,0,0,5768,0,0,2,1111976,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43094332-T-C,17,43094332,rs1555592245,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp400Gly,p.Asp400Gly,c.1199A>G,missense_variant,Conflicting interpretations of pathogenicity,441494,,1,833100,0.0000012003360941063497,0,0,,,15.6,0.497,0.00,0.0100,0.0290,0.0700,0.380,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761894,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094333-C-T,17,43094333,rs2053979139,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp400Asn,p.Asp400Asn,c.1198G>A,missense_variant,Benign,1060748,,2,152206,0.000013140086461768918,0,0,afr,0.000008,18.9,0.289,0.00,0.00,1.14,,,2,41444,0,0,0,15284,0,0,0,3470,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43094335-T-C,17,43094335,rs587780794,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His399Arg,p.His399Arg,c.1196A>G,missense_variant,Conflicting interpretations of pathogenicity,136078,,2,628736,0.000003180985342019544,0,0,,,5.56,0.580,0.00,0.00,-0.371,0.370,0.0550,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36064,0,0,0,53134,0,0,0,4148,0,0,1,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43094338-G-A,17,43094338,rs80357068,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser398Leu,p.Ser398Leu,c.1193C>T,missense_variant,Conflicting interpretations of pathogenicity,652057,,2,628726,0.000003181035936162971,0,0,nfe,9.5e-7,15.4,0.527,0.00,0.00,1.49,0.0600,0.139,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,2,350086,0,0,,,,,0,69792,0,0,0,33092,0,0 +17-43094340-GT-G,17,43094340,rs748714307,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp397AlafsTer13,p.Asp397AlafsTer13,c.1190del,frameshift_variant,Pathogenic,254392,,1,1461828,6.840750074564176e-7,0,0,,,20.9,,0.00,0.0300,-0.327,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5766,0,0,0,1111982,0,0,,,,,1,86254,0,0,0,60390,0,0 +17-43094340-G-A,17,43094340,rs2154471430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp397Asp,p.Asp397Asp,c.1191C>T,synonymous_variant,Likely benign,1744986,,1,1461828,6.840750074564176e-7,0,0,,,5.19,,0.00,0.00,-0.327,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5766,0,0,1,1111982,0,0,,,,,0,86254,0,0,0,60390,0,0 +17-43094344-T-A,17,43094344,rs1555592280,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp396Val,p.Asp396Val,c.1187A>T,missense_variant,Conflicting interpretations of pathogenicity,629134,,2,628730,0.000003181015698312471,0,0,nfe,9.5e-7,23.4,0.557,0.00,0.0100,0.301,0.00,0.988,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53128,0,0,0,4148,0,0,2,350088,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43094345-C-T,17,43094345,rs786203145,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp396Asn,p.Asp396Asn,c.1186G>A,missense_variant,Conflicting interpretations of pathogenicity,186688,,5,1461820,0.0000034203937557291596,0,0,nfe,0.0000013199999999999999,16.0,0.425,0.00,0.0100,1.05,0.100,0.775,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53404,0,0,0,5768,0,0,5,1111974,0,0,,,,,0,86254,0,0,0,60388,0,0 +17-43094349-A-G,17,43094349,rs2154471852,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly394Gly,p.Gly394Gly,c.1182T>C,synonymous_variant,,,,1,833102,0.0000012003332124997898,0,0,,,11.4,,0.00,0.00,1.95,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094351-C-G,17,43094351,rs771837028,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly394Arg,p.Gly394Arg,c.1180G>C,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,16.8,0.519,0.00,0.0100,-0.104,0.00,0.0880,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53132,0,0,0,4148,0,0,1,350084,0,0,,,,,0,69794,0,0,0,33092,0,0 +17-43094353-A-G,17,43094353,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu393Ser,p.Leu393Ser,c.1178T>C,missense_variant,,,,1,833102,0.0000012003332124997898,0,0,,,23.8,0.683,0.00,0.00,2.00,0.0100,0.976,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761896,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094356-A-T,17,43094356,rs777305766,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu392Gln,p.Leu392Gln,c.1175T>A,missense_variant,,,,1,628720,0.0000015905331467107776,0,0,,,23.7,0.516,0.00,0.00,0.315,0.00,0.808,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53132,0,0,0,4148,0,0,1,350076,0,0,,,,,0,69794,0,0,0,33090,0,0 +17-43094357-G-A,17,43094357,rs2154472222,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu392Leu,p.Leu392Leu,c.1174C>T,synonymous_variant,Likely benign,1740301,,1,628744,0.0000015904724339317751,0,0,,,4.47,,0.00,0.00,0.231,,,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53136,0,0,0,4148,0,0,1,350090,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094358-T-C,17,43094358,rs1131692097,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu391Glu,p.Glu391Glu,c.1173A>G,synonymous_variant,Likely benign,427288,,7,1461854,0.000004788439885241618,0,0,nfe,0.0000026200000000000003,7.22,,0.00,0.00,-0.304,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,7,1111994,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094360-C-G,17,43094360,rs562553169,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu391Gln,p.Glu391Gln,c.1171G>C,missense_variant,,,,2,1614162,0.000001239033009078395,0,0,,,22.6,0.533,0.00,0.00,2.49,0.00,0.974,0,75058,0,0,0,60030,0,0,0,29604,0,0,0,44884,0,0,0,64020,0,0,0,6062,0,0,0,1180012,0,0,0,912,0,0,2,91072,0,0,0,62508,0,0 +17-43094360-C-A,17,43094360,rs562553169,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu391Ter,p.Glu391Ter,c.1171G>T,stop_gained,Pathogenic,266140,,2,1461846,0.0000013681331686100997,0,0,,,33.0,,0.00,0.0300,2.49,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53408,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86244,0,0,0,60394,0,0 +17-43094369-T-C,17,43094369,rs111312760,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg388Gly,p.Arg388Gly,c.1162A>G,missense_variant,Conflicting interpretations of pathogenicity,1737108,,2,1461850,0.000001368129425043609,0,0,,,27.3,0.900,0.00,0.00,4.72,0.00,0.999,1,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86252,0,0,0,60394,0,0 +17-43094371-G-A,17,43094371,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser387Phe,p.Ser387Phe,c.1160C>T,missense_variant,,,,1,1461856,6.840619048661428e-7,0,0,,,23.9,0.755,0.00,-0.0100,4.18,0.0300,0.521,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094372-A-T,17,43094372,rs876659403,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser387Thr,p.Ser387Thr,c.1159T>A,missense_variant,Benign,231852,,3,1461858,0.0000020521829069581315,0,0,nfe,2.999999999999999e-7,24.9,0.800,0.00,0.00,4.66,0.0200,0.855,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53410,0,0,0,5768,0,0,2,1111998,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43094379-C-T,17,43094379,rs1057523704,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu384Glu,p.Glu384Glu,c.1152G>A,synonymous_variant,Likely benign,390270,,1,833110,0.0000012003216862119048,0,0,,,6.60,,0.00,0.00,0.494,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094382-A-G,17,43094382,rs979531844,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn383Asn,p.Asn383Asn,c.1149T>C,synonymous_variant,Likely benign,491027,,1,628746,0.0000015904673747427419,0,0,,,8.49,,0.00,0.00,-0.192,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53130,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69794,0,0,1,33096,0,0 +17-43094383-T-C,17,43094383,rs770090143,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn383Ser,p.Asn383Ser,c.1148A>G,missense_variant,Conflicting interpretations of pathogenicity,1319809,,2,1461852,0.0000013681275532680463,0,0,,,24.6,0.769,0.00,0.0100,2.96,0.0100,0.951,0,33478,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53404,0,0,0,5768,0,0,1,1112000,0,0,,,,,1,86254,0,0,0,60394,0,0 +17-43094387-C-A,17,43094387,rs1160165083,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val382Phe,p.Val382Phe,c.1144G>T,missense_variant,Conflicting interpretations of pathogenicity,822244,,1,152242,0.0000065684896414918355,0,0,,,25.1,0.897,0.00,0.00,8.90,,,0,41462,0,0,1,15288,0,0,0,3472,0,0,0,5206,0,0,0,10624,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2088,0,0 +17-43094387-C-G,17,43094387,rs1160165083,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val382Leu,p.Val382Leu,c.1144G>C,missense_variant,Conflicting interpretations of pathogenicity,1732175,,2,833110,0.0000024006433724238097,0,0,,,24.8,0.872,0.00,0.00,8.90,0.00,1.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094393-G-T,17,43094393,rs397508840,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln380Lys,p.Gln380Lys,c.1138C>A,missense_variant,,,,1,628738,0.0000015904876116919926,0,0,,,24.1,0.717,0.00,0.00,4.90,0.0100,0.854,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094394-A-C,17,43094394,rs56128296,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile379Met,p.Ile379Met,c.1137T>G,missense_variant,Benign/Likely benign,54143,,449,1614162,0.00027816291053809966,2,0,afr,0.005001030000000001,23.9,0.819,0.00,0.00,1.35,0.00,0.999,408,75046,2,0,10,60018,0,0,0,29602,0,0,0,44882,0,0,0,64024,0,0,1,6062,0,0,7,1180026,0,0,0,912,0,0,0,91082,0,0,23,62508,0,0 +17-43094395-A-G,17,43094395,rs1567800757,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379Thr,p.Ile379Thr,c.1136T>C,missense_variant,Conflicting interpretations of pathogenicity,580309,,1,628740,0.0000015904825524064001,0,0,,,25.3,0.893,0.00,0.00,4.72,0.00,0.980,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094395-ATGCTG-A,17,43094395,,ATGCTG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379GlufsTer3,p.Ile379GlufsTer3,c.1131_1135del,frameshift_variant,,,,1,628740,0.0000015904825524064001,0,0,,,27.7,,0.00,0.0400,4.72,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094396-T-C,17,43094396,rs864622723,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile379Val,p.Ile379Val,c.1135A>G,missense_variant,Conflicting interpretations of pathogenicity,221036,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,23.3,0.737,0.00,0.00,2.32,0.0300,0.953,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094397-G-T,17,43094397,rs863224752,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser378Arg,p.Ser378Arg,c.1134C>A,missense_variant,Conflicting interpretations of pathogenicity,216654,,11,1614032,0.000006815230429136473,0,0,nfe,0.000005,24.0,0.832,0.00,0.00,4.15,0.0400,0.976,0,74918,0,0,0,60000,0,0,0,29606,0,0,0,44896,0,0,0,64018,0,0,0,6084,0,0,11,1180030,0,0,0,912,0,0,0,91088,0,0,0,62480,0,0 +17-43094400-G-C,17,43094400,rs786203434,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser377Arg,p.Ser377Arg,c.1131C>G,missense_variant,Conflicting interpretations of pathogenicity,489706,,4,1614004,0.00000247830860394398,0,0,nfe,6.800000000000001e-7,23.2,0.722,0.00,0.0100,1.04,0.0800,0.993,0,74918,0,0,0,59996,0,0,0,29604,0,0,1,44898,0,0,0,63996,0,0,0,6084,0,0,3,1180028,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 +17-43094400-G-T,17,43094400,rs786203434,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser377Arg,p.Ser377Arg,c.1131C>A,missense_variant,Conflicting interpretations of pathogenicity,187050,,3,1614004,0.0000018587314529579852,0,0,nfe,2.8000000000000007e-7,23.2,0.722,0.00,0.00,1.04,0.0800,0.993,1,74918,0,0,0,59996,0,0,0,29604,0,0,0,44898,0,0,0,63996,0,0,0,6084,0,0,2,1180028,0,0,0,912,0,0,0,91082,0,0,0,62486,0,0 +17-43094403-AT-A,17,43094403,rs80357821,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn376IlefsTer18,p.Asn376IlefsTer18,c.1127del,frameshift_variant,Pathogenic,54140,,1,628742,0.0000015904774931529943,0,0,,,25.5,,0.00,0.0200,-0.897,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53122,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094406-T-C,17,43094406,rs1060504578,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu375Leu,p.Leu375Leu,c.1125A>G,synonymous_variant,Likely benign,415584,,3,628738,0.000004771462835075978,0,0,nfe,0.00000228,9.30,,0.00,0.00,0.417,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53120,0,0,0,4148,0,0,3,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094408-G-C,17,43094408,rs1131692084,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu375Val,p.Leu375Val,c.1123C>G,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,17.6,0.639,0.00,0.0100,1.61,0.0600,0.838,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53112,0,0,0,4148,0,0,0,350100,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094409-TG-T,17,43094409,rs80357612,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374AsnfsTer2,p.Thr374AsnfsTer2,c.1121del,frameshift_variant,Pathogenic,37391,,2,628740,0.0000031809651048128003,0,0,nfe,9.5e-7,25.9,,0.00,0.0300,-0.446,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53122,0,0,0,4148,0,0,2,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094410-G-A,17,43094410,rs80357235,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374Ile,p.Thr374Ile,c.1121C>T,missense_variant,Conflicting interpretations of pathogenicity,54136,,1,628722,0.0000015905280871354907,0,0,,,23.9,0.677,0.00,0.0100,4.20,0.0100,0.919,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53110,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094411-T-C,17,43094411,rs2154475036,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr374Ala,p.Thr374Ala,c.1120A>G,missense_variant,,,,1,628738,0.0000015904876116919926,0,0,,,19.1,0.722,0.00,0.0100,1.07,0.0700,0.874,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53118,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094414-T-A,17,43094414,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile373Leu,p.Ile373Leu,c.1117A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,10.2,0.530,0.00,0.0200,-1.26,0.150,0.0840,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094414-T-C,17,43094414,rs373218165,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile373Val,p.Ile373Val,c.1117A>G,missense_variant,,,,1,152234,0.0000065688348200796145,0,0,,,6.84,0.549,0.00,0.0200,-1.26,,,0,41466,0,0,0,15286,0,0,0,3470,0,0,0,5206,0,0,0,10622,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4824,0,0,0,2094,0,0 +17-43094415-C-G,17,43094415,rs80357468,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Cys,p.Trp372Cys,c.1116G>C,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,24.8,0.602,0.00,0.0100,5.02,0.0100,0.967,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094415-C-T,17,43094415,rs80357468,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Ter,p.Trp372Ter,c.1116G>A,stop_gained,Pathogenic,54135,,1,1461836,6.840712638079785e-7,0,0,,,35.0,,0.00,0.0300,5.02,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39694,0,0,0,53382,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094416-C-T,17,43094416,rs397508838,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Trp372Ter,p.Trp372Ter,c.1115G>A,stop_gained,Pathogenic,54134,,1,152184,0.000006570993008463439,0,0,,,35.0,,0.00,0.0500,5.03,,,0,41442,0,0,0,15284,0,0,0,3468,0,0,0,5198,0,0,1,10610,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43094417-A-G,17,43094417,rs1306111238,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp372Arg,p.Trp372Arg,c.1114T>C,missense_variant,Conflicting interpretations of pathogenicity,485404,,3,833106,0.00000360098234798453,0,0,sas,0.00002107,25.1,0.616,0.00,0.00,2.94,0.0400,0.946,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,2,16460,0,0,0,27298,0,0 +17-43094418-A-G,17,43094418,rs876658619,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Pro371Pro,p.Pro371Pro,c.1113T>C,synonymous_variant,Likely benign,230530,,2,152218,0.000013139050572205653,0,0,afr,0.00000799,9.93,,0.00,0.00,0.634,,,2,41462,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10612,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43094420-G-A,17,43094420,rs2154475408,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro371Ser,p.Pro371Ser,c.1111C>T,missense_variant,,,,1,1461836,6.840712638079785e-7,0,0,,,0.603,0.562,0.00,0.0100,0.407,0.430,0.702,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53384,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094422-ACAT-A,17,43094422,rs80358325,ACAT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp369del,p.Asp369del,c.1106_1108del,inframe_deletion,Benign,54130,,156,1614042,0.00009665175999137569,0,0,nfe,0.00010792,9.23,,0.00,0.0100,1.01,,,2,74928,0,0,0,60004,0,0,0,29606,0,0,0,44906,0,0,0,63996,0,0,0,6084,0,0,147,1180044,0,0,0,912,0,0,0,91076,0,0,7,62486,0,0 +17-43094423-C-A,17,43094423,rs1567800850,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val370Phe,p.Val370Phe,c.1108G>T,missense_variant,Conflicting interpretations of pathogenicity,1794369,,1,628674,0.0000015906495258273763,0,0,,,6.42,0.590,0.00,0.00,-0.160,0.0300,0.513,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53110,0,0,0,4148,0,0,1,350046,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094423-C-G,17,43094423,rs1567800850,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val370Leu,p.Val370Leu,c.1108G>C,missense_variant,Conflicting interpretations of pathogenicity,628528,,1,628674,0.0000015906495258273763,0,0,,,0.820,0.647,0.00,0.00,-0.160,0.0800,0.392,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53110,0,0,0,4148,0,0,1,350046,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094424-A-G,17,43094424,rs1173044823,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp369Asp,p.Asp369Asp,c.1107T>C,synonymous_variant,Likely benign,1619219,,1,152210,0.000006569870573549701,0,0,,,4.18,,0.00,0.00,0.388,,,1,41460,0,0,0,15276,0,0,0,3466,0,0,0,5202,0,0,0,10616,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43094426-C-T,17,43094426,rs56056711,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp369Asn,p.Asp369Asn,c.1105G>A,missense_variant,Benign,37390,,22,780922,0.000028171827660124828,0,0,nfe,0.000035419999999999996,14.0,0.398,0.00,0.0200,4.17,0.0600,0.838,0,59152,0,0,0,59018,0,0,0,24450,0,0,0,41272,0,0,0,63704,0,0,0,4464,0,0,22,418132,0,0,0,912,0,0,0,74628,0,0,0,35190,0,0 +17-43094427-T-A,17,43094427,rs2154475859,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu368Asp,p.Glu368Asp,c.1104A>T,missense_variant,,,,2,628724,0.000003181046055184787,0,0,sas,0.00000476,10.7,0.625,0.00,0.0100,-0.336,0.0300,0.0380,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53100,0,0,0,4148,0,0,0,350102,0,0,,,,,2,69794,0,0,0,33096,0,0 +17-43094431-G-A,17,43094431,rs1238929596,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr367Ile,p.Thr367Ile,c.1100C>T,missense_variant,,,,2,1461818,0.000001368159374149176,0,0,,,5.89,0.518,0.00,0.00,1.86,0.0100,0.0560,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53362,0,0,0,5768,0,0,0,1112004,0,0,,,,,0,86254,0,0,2,60394,0,0 +17-43094432-T-C,17,43094432,rs878854929,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr367Ala,p.Thr367Ala,c.1099A>G,missense_variant,Conflicting interpretations of pathogenicity,240769,,1,833108,0.0000012003245677631232,0,0,,,0.531,0.538,0.00,0.00,-0.196,0.280,0.00700,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43094435-C-G,17,43094435,rs1289961661,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp366His,p.Asp366His,c.1096G>C,missense_variant,Conflicting interpretations of pathogenicity,489705,,13,833110,0.00001560418192075476,0,0,nfe,0.00000952,17.0,0.446,0.00,0.00,0.743,0.0300,0.665,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,13,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094436-T-C,17,43094436,rs2154476392,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg365Arg,p.Arg365Arg,c.1095A>G,synonymous_variant,Likely benign,2008407,,1,833110,0.0000012003216862119048,0,0,,,3.62,,0.00,0.0200,0.0110,,,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094437-C-T,17,43094437,rs2053994698,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg365Lys,p.Arg365Lys,c.1094G>A,missense_variant,Conflicting interpretations of pathogenicity,948211,,1,1461790,6.840927903460826e-7,0,0,,,0.587,0.614,0.00,0.00,0.772,0.270,0.593,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53342,0,0,0,5768,0,0,1,1111998,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094438-TAGGATTCTCTG-T,17,43094438,rs80359880,TAGGATTCTCTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser361Ter,p.Ser361Ter,c.1082_1092del,frameshift_variant,Pathogenic,54122,,4,628686,0.000006362476657663762,0,0,nfe,0.00000228,22.4,,0.00,0.0300,-0.0380,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,1,53070,0,0,0,4148,0,0,3,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094449-G-C,17,43094449,rs397508833,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser361Ter,p.Ser361Ter,c.1082C>G,stop_gained,Pathogenic,54121,,1,833110,0.0000012003216862119048,0,0,,,33.0,,0.00,-0.0300,2.44,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094450-A-G,17,43094450,rs80356946,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser361Pro,p.Ser361Pro,c.1081T>C,missense_variant,Conflicting interpretations of pathogenicity,54120,,5,780830,0.000006403442490682991,0,0,nfe,0.0000045,2.88,0.560,0.00,0.00,0.110,0.500,0.0440,0,59146,0,0,0,59008,0,0,0,24452,0,0,0,41258,0,0,0,63648,0,0,0,4464,0,0,5,418130,0,0,0,910,0,0,0,74624,0,0,0,35190,0,0 +17-43094454-T-C,17,43094454,rs1360964488,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Pro,p.Pro359Pro,c.1077A>G,synonymous_variant,Likely benign,928220,,1,628632,0.0000015907557998956464,0,0,,,1.32,,0.00,0.00,-2.19,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53016,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69794,0,0,0,33092,0,0 +17-43094455-G-A,17,43094455,rs397508831,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Leu,p.Pro359Leu,c.1076C>T,missense_variant,Conflicting interpretations of pathogenicity,54118,,1,833110,0.0000012003216862119048,0,0,,,1.50,0.439,0.00,0.00,-0.00300,0.450,0.0500,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094456-G-A,17,43094456,rs767666190,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro359Ser,p.Pro359Ser,c.1075C>T,missense_variant,Conflicting interpretations of pathogenicity,252384,,13,1461700,0.000008893753848258876,0,0,sas,0.000015830000000000003,1.09,0.516,0.00,0.00,1.13,0.270,0.196,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53248,0,0,0,5768,0,0,8,1112004,0,0,,,,,4,86254,0,0,0,60392,0,0 +17-43094457-C-A,17,43094457,rs2154477691,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu358Leu,p.Leu358Leu,c.1074G>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,0.546,,0.00,0.00,0.440,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094459-G-A,17,43094459,rs377310179,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu358Leu,p.Leu358Leu,c.1072C>T,synonymous_variant,Likely benign,230917,,1,152198,0.000006570388572780194,0,0,,,0.595,,0.00,0.00,-0.185,,,0,41442,0,0,0,15280,0,0,0,3470,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43094460-T-C,17,43094460,rs786202159,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys357Lys,p.Lys357Lys,c.1071A>G,synonymous_variant,Likely benign,185419,,15,1461744,0.000010261714773585525,0,0,nfe,0.00000652,3.45,,0.00,0.00,-0.111,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53286,0,0,0,5768,0,0,13,1112008,0,0,,,,,0,86254,0,0,2,60394,0,0 +17-43094464-T-C,17,43094464,rs1799950,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln356Arg,p.Gln356Arg,c.1067A>G,missense_variant,Benign,41803,,88872,1614048,0.05506155950752394,2838,0,nfe,0.06244073,22.4,0.417,0.00,0.00,2.48,0.0100,0.988,783,75064,7,0,1830,60032,36,0,2324,29602,86,0,9,44890,0,0,5015,63878,225,0,355,6062,23,0,74129,1180014,2331,0,15,912,0,0,1238,91088,23,0,3174,62506,107,0 +17-43094465-G-A,17,43094465,rs80357215,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln356Ter,p.Gln356Ter,c.1066C>T,stop_gained,Pathogenic,54114,,1,628592,0.0000015908570264973147,0,0,,,33.0,,0.00,0.0400,3.49,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,52972,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094466-C-T,17,43094466,rs41286292,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys355Lys,p.Lys355Lys,c.1065G>A,synonymous_variant,Likely benign,54113,,149,1614038,0.00009231505082284309,0,0,nfe,0.00008756,2.46,,0.00,0.00,0.211,,,2,75042,0,0,0,60026,0,0,0,29604,0,0,0,44890,0,0,0,63880,0,0,5,6062,0,0,121,1180030,0,0,0,912,0,0,3,91084,0,0,18,62508,0,0 +17-43094468-T-G,17,43094468,rs397508829,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys355Gln,p.Lys355Gln,c.1063A>C,missense_variant,,,,1,628622,0.0000015907811053383433,0,0,,,6.68,0.511,0.00,0.00,-0.411,0.0200,0.710,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52998,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094477-C-A,17,43094477,rs80357472,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu352Ter,p.Glu352Ter,c.1054G>T,stop_gained,Pathogenic,54108,,1,628606,0.0000015908215957213262,0,0,,,23.9,,0.00,0.0300,0.234,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094482-C-T,17,43094482,rs2054001685,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg350Lys,p.Arg350Lys,c.1049G>A,missense_variant,Conflicting interpretations of pathogenicity,921476,,2,1461708,0.0000013682623342008117,0,0,nfe,2.999999999999999e-7,7.44,0.636,0.00,0.00,0.945,0.120,0.627,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53252,0,0,0,5768,0,0,2,1112004,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094488-C-T,17,43094488,rs752198747,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys348Tyr,p.Cys348Tyr,c.1043G>A,missense_variant,Conflicting interpretations of pathogenicity,225706,,1,1461688,6.841405279375625e-7,0,0,,,0.00500,0.561,0.00,0.00,-0.624,1.00,0.00100,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53236,0,0,0,5768,0,0,1,1112002,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43094490-C-T,17,43094490,rs1555592609,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Leu,p.Leu347Leu,c.1041G>A,synonymous_variant,Likely benign,462545,,1,628592,0.0000015908570264973147,0,0,,,0.128,,0.00,0.0100,0.0620,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,52972,0,0,0,4146,0,0,0,350100,0,0,,,,,1,69794,0,0,0,33098,0,0 +17-43094491-A-T,17,43094491,rs757987511,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Gln,p.Leu347Gln,c.1040T>A,missense_variant,Conflicting interpretations of pathogenicity,441364,,8,1461682,0.000005473146689909296,0,0,sas,0.00003764999999999999,18.7,0.546,0.00,0.0100,0.672,0.0300,0.775,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39698,0,0,0,53234,0,0,0,5768,0,0,1,1111998,0,0,,,,,7,86252,0,0,0,60396,0,0 +17-43094492-G-A,17,43094492,rs1378561919,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu347Leu,p.Leu347Leu,c.1039C>T,synonymous_variant,Likely benign,462544,,1,628546,0.000001590973453016963,0,0,,,0.451,,0.00,0.00,-0.0280,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,1,52932,0,0,0,4148,0,0,0,350096,0,0,,,,,0,69790,0,0,0,33098,0,0 +17-43094495-G-A,17,43094495,rs80357015,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro346Ser,p.Pro346Ser,c.1036C>T,missense_variant,Benign,37389,,34,1613798,0.000021068312143155462,0,0,eas,0.0005184900000000001,0.359,0.515,0.00,0.00,0.820,0.720,0.0480,0,74918,0,0,0,59986,0,0,0,29600,0,0,32,44896,0,0,0,63794,0,0,0,6084,0,0,0,1180040,0,0,0,912,0,0,0,91084,0,0,2,62484,0,0 +17-43094495-G-C,17,43094495,rs80357015,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro346Ala,p.Pro346Ala,c.1036C>G,missense_variant,Conflicting interpretations of pathogenicity,573731,,2,1613798,0.000001239312479009145,0,0,,,0.911,0.447,0.00,0.00,0.820,0.150,0.0610,0,74918,0,0,0,59986,0,0,0,29600,0,0,0,44896,0,0,0,63794,0,0,0,6084,0,0,2,1180040,0,0,0,912,0,0,0,91084,0,0,0,62484,0,0 +17-43094496-A-T,17,43094496,rs1164807386,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp345Glu,p.Asp345Glu,c.1035T>A,missense_variant,,,,1,628588,0.000001590867149866049,0,0,,,6.85,0.538,0.00,0.00,0.283,0.120,0.396,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36068,0,0,0,52964,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69794,0,0,0,33098,0,0 +17-43094498-C-G,17,43094498,rs80356961,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp345His,p.Asp345His,c.1033G>C,missense_variant,,,,1,1461678,6.841452084522036e-7,0,0,,,14.0,0.501,0.00,0.0100,2.42,0.140,0.900,1,33478,0,0,0,44722,0,0,0,26132,0,0,0,39698,0,0,0,53226,0,0,0,5768,0,0,0,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094499-A-G,17,43094499,rs2154479461,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Ala,p.Ala344Ala,c.1032T>C,synonymous_variant,,,,2,833110,0.0000024006433724238097,0,0,,,5.51,,0.00,0.00,0.107,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094500-G-A,17,43094500,rs876658636,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Val,p.Ala344Val,c.1031C>T,missense_variant,Conflicting interpretations of pathogenicity,230563,,1,628540,0.000001590988640341108,0,0,,,9.55,0.482,0.00,0.0100,3.29,0.120,0.491,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52920,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094501-C-T,17,43094501,rs79727659,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala344Thr,p.Ala344Thr,c.1030G>A,missense_variant,Conflicting interpretations of pathogenicity,54104,,4,628588,0.000006363468599464196,0,0,nfe,0.0000036699999999999996,6.18,0.560,0.00,0.0100,1.89,0.120,0.260,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52966,0,0,0,4148,0,0,4,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094505-C-T,17,43094505,rs1171571879,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu342Leu,p.Leu342Leu,c.1026G>A,synonymous_variant,Benign/Likely benign,481481,,1,152188,0.000006570820301206403,0,0,,,3.54,,0.00,0.0100,1.84,,,1,41446,0,0,0,15270,0,0,0,3468,0,0,0,5206,0,0,0,10620,0,0,0,316,0,0,0,68030,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 +17-43094509-T-G,17,43094509,rs1567801162,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp341Ala,p.Asp341Ala,c.1022A>C,missense_variant,Conflicting interpretations of pathogenicity,574708,,1,628604,0.0000015908266571641288,0,0,,,5.55,0.568,0.00,0.0100,0.276,0.380,0.0240,0,17694,0,0,0,43740,0,0,0,20980,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43094510-C-A,17,43094510,rs756987689,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp341Tyr,p.Asp341Tyr,c.1021G>T,missense_variant,Conflicting interpretations of pathogenicity,482915,,1,628600,0.000001590836780146357,0,0,,,15.1,0.628,0.00,0.0200,1.27,0.0800,0.0910,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36068,0,0,0,52980,0,0,0,4148,0,0,0,350102,0,0,,,,,1,69792,0,0,0,33098,0,0 +17-43094511-T-A,17,43094511,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val340Val,p.Val340Val,c.1020A>T,synonymous_variant,,,,1,833110,0.0000012003216862119048,0,0,,,3.59,,0.00,0.00,-0.914,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761904,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094514-C-T,17,43094514,rs863224416,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339Lys,p.Lys339Lys,c.1017G>A,synonymous_variant,Likely benign,215867,,2,628612,0.0000031816128231723227,0,0,nfe,9.5e-7,5.15,,0.00,0.0100,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52986,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43094514-CT-C,17,43094514,rs80357569,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339ArgfsTer2,p.Lys339ArgfsTer2,c.1016del,frameshift_variant,Pathogenic,37386,,1,628610,0.0000015908114729323427,0,0,,,21.2,,0.00,0.0400,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,52984,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43094514-C-CT,17,43094514,rs80357569,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val340GlyfsTer6,p.Val340GlyfsTer6,c.1016dup,frameshift_variant,Pathogenic,54102,,2,628610,0.0000031816229458646854,0,0,,,21.7,,0.00,0.0300,1.06,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,52984,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69792,0,0,0,33098,0,0 +17-43094515-T-G,17,43094515,rs587781737,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys339Thr,p.Lys339Thr,c.1016A>C,missense_variant,Conflicting interpretations of pathogenicity,141428,,7,152320,0.000045955882352941176,0,0,afr,0.00007869999999999997,13.4,0.496,0.00,0.00,0.234,0.270,0.688,7,41574,0,0,0,15302,0,0,0,3470,0,0,0,5194,0,0,0,10630,0,0,0,294,0,0,0,68006,0,0,0,912,0,0,0,4824,0,0,0,2114,0,0 +17-43094516-T-C,17,43094516,rs55842957,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys339Glu,p.Lys339Glu,c.1015A>G,missense_variant,Conflicting interpretations of pathogenicity,96894,,19,1461760,0.000012998029772329247,0,0,nfe,0.00001093,14.0,0.536,0.00,0.0100,2.48,0.120,0.443,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53302,0,0,0,5768,0,0,19,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094517-T-A,17,43094517,rs876660793,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Asn,p.Lys338Asn,c.1014A>T,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,15.9,0.432,0.00,0.0100,0.307,0.0500,0.133,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094519-T-C,17,43094519,rs397508826,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Glu,p.Lys338Glu,c.1012A>G,missense_variant,Conflicting interpretations of pathogenicity,409360,,1,1461760,6.84106830122592e-7,0,0,,,0.506,0.544,0.00,0.00,-1.57,0.630,0.0120,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43094519-T-A,17,43094519,rs397508826,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys338Ter,p.Lys338Ter,c.1012A>T,stop_gained,Pathogenic,54101,,3,1461760,0.000002052320490367776,0,0,nfe,7.200000000000001e-7,24.1,,0.00,0.0500,-1.57,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53298,0,0,0,5768,0,0,3,1112008,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43094523-T-C,17,43094523,rs1060504568,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Thr,p.Thr336Thr,c.1008A>G,synonymous_variant,Conflicting interpretations of pathogenicity,415571,,2,628656,0.0000031813901402356776,0,0,amr,0.000007580000000000001,3.88,,0.00,0.0100,0.381,,,0,17692,0,0,2,43738,0,0,0,20982,0,0,0,36068,0,0,0,53032,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094524-G-C,17,43094524,rs1597878639,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Arg,p.Thr336Arg,c.1007C>G,missense_variant,Conflicting interpretations of pathogenicity,818253,,5,1461576,0.000003420964766799674,0,0,nfe,0.0000013199999999999999,18.0,0.521,0.00,0.0100,5.88,0.00,0.378,0,33464,0,0,0,44678,0,0,0,26126,0,0,0,39694,0,0,0,53276,0,0,0,5764,0,0,5,1111958,0,0,,,,,0,86226,0,0,0,60390,0,0 +17-43094524-G-A,17,43094524,rs1597878639,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr336Ile,p.Thr336Ile,c.1007C>T,missense_variant,,,,1,1461576,6.841929533599348e-7,0,0,,,17.8,0.488,0.00,0.0400,5.88,0.0200,0.285,0,33464,0,0,0,44678,0,0,0,26126,0,0,0,39694,0,0,0,53276,0,0,0,5764,0,0,0,1111958,0,0,,,,,1,86226,0,0,0,60390,0,0 +17-43094530-G-A,17,43094530,rs41286290,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro334Leu,p.Pro334Leu,c.1001C>T,missense_variant,Benign,54099,,114,1613776,0.0000706417743230783,0,0,nfe,0.00007023,13.0,0.452,0.00,0.0100,1.02,0.0800,0.263,2,74862,0,0,0,59966,0,0,0,29606,0,0,0,44888,0,0,1,63890,0,0,0,6084,0,0,99,1180002,0,0,0,912,0,0,0,91078,0,0,12,62488,0,0 +17-43094531-G-A,17,43094531,rs1555592700,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro334Ser,p.Pro334Ser,c.1000C>T,missense_variant,,,,1,628688,0.0000015906141042933855,0,0,,,7.38,0.484,0.00,0.0100,0.982,0.0800,0.474,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53060,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094533-G-A,17,43094533,rs431825420,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr333Ile,p.Thr333Ile,c.998C>T,missense_variant,Conflicting interpretations of pathogenicity,96957,,1,628682,0.0000015906292847576358,0,0,,,9.63,0.571,0.00,0.0100,0.188,0.250,0.0200,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53056,0,0,0,4148,0,0,0,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094534-T-C,17,43094534,rs786201634,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr333Ala,p.Thr333Ala,c.997A>G,missense_variant,Benign,184709,,4,780846,0.000005122649024263427,0,0,nfe,0.0000032400000000000003,12.1,0.506,0.00,0.0500,-0.675,0.220,0.0190,0,59132,0,0,0,59002,0,0,0,24454,0,0,0,41270,0,0,0,63686,0,0,0,4464,0,0,4,418120,0,0,0,912,0,0,0,74616,0,0,0,35190,0,0 +17-43094535-C-A,17,43094535,rs80356836,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Arg,p.Arg332Arg,c.996G>T,synonymous_variant,Likely benign,55777,,18,1613950,0.000011152761857554448,0,0,amr,0.00015359,6.84,,0.00,0.0300,1.59,,,0,74912,0,0,15,59986,0,0,0,29604,0,0,0,44902,0,0,0,63962,0,0,0,6084,0,0,1,1180030,0,0,0,912,0,0,0,91070,0,0,2,62488,0,0 +17-43094535-C-T,17,43094535,rs80356836,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg332Arg,p.Arg332Arg,c.996G>A,synonymous_variant,,,,1,1461806,6.840853027009056e-7,0,0,,,7.21,,0.00,0.0300,1.59,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53348,0,0,0,5768,0,0,0,1112008,0,0,,,,,1,86250,0,0,0,60396,0,0 +17-43094536-C-T,17,43094536,rs80357464,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Gln,p.Arg332Gln,c.995G>A,missense_variant,Conflicting interpretations of pathogenicity,55776,,18,1614032,0.000011152195247677864,0,0,amr,0.00003233,6.94,0.479,0.00,0.0600,0.486,1.00,0.00,1,75018,0,0,5,60008,0,0,0,29604,0,0,4,44886,0,0,0,63946,0,0,0,6062,0,0,4,1180024,0,0,0,910,0,0,2,91066,0,0,2,62508,0,0 +17-43094537-G-A,17,43094537,rs80357176,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg332Trp,p.Arg332Trp,c.994C>T,missense_variant,Conflicting interpretations of pathogenicity,55775,,18,1613872,0.00001115330088135862,0,0,afr,0.00001063,24.3,0.520,0.00,0.0400,5.87,0.00,0.339,3,74908,0,0,1,59986,0,0,0,29600,0,0,0,44902,0,0,0,63914,0,0,0,6084,0,0,14,1180006,0,0,0,912,0,0,0,91072,0,0,0,62488,0,0 +17-43094538-C-T,17,43094538,rs80357140,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg331Arg,p.Arg331Arg,c.993G>A,synonymous_variant,,,,1,833108,0.0000012003245677631232,0,0,,,8.13,,0.00,0.0100,1.35,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094540-T-C,17,43094540,rs2154480962,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg331Gly,p.Arg331Gly,c.991A>G,missense_variant,,,,4,833106,0.000004801309797312707,0,0,nfe,0.0000012299999999999999,20.5,0.541,0.00,0.0100,0.726,0.230,0.411,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,4,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094541-A-G,17,43094541,rs978690648,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp330Asp,p.Asp330Asp,c.990T>C,synonymous_variant,Likely benign,427264,,5,1461844,0.0000034203376010025695,0,0,nfe,8.4e-7,8.00,,0.00,0.0200,0.500,,,0,33480,0,0,1,44724,0,0,0,26134,0,0,0,39698,0,0,0,53384,0,0,0,5768,0,0,4,1112006,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43094542-T-C,17,43094542,rs1282699332,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp330Gly,p.Asp330Gly,c.989A>G,missense_variant,,,,1,152244,0.0000065684033525130715,0,0,,,16.1,0.525,0.00,0.0300,1.74,,,0,41462,0,0,0,15286,0,0,0,3470,0,0,0,5206,0,0,0,10624,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43094543-C-T,17,43094543,rs397507259,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp330Asn,p.Asp330Asn,c.988G>A,missense_variant,Conflicting interpretations of pathogenicity,37713,,1,628726,0.0000015905179680814854,0,0,,,17.8,0.309,0.00,0.0100,2.98,0.0700,0.742,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53098,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094544-A-G,17,43094544,rs774849810,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn329Asn,p.Asn329Asn,c.987T>C,synonymous_variant,Likely benign,185687,,24,628740,0.0000381715812577536,0,0,amr,0.00035858000000000027,6.56,,0.00,0.0200,-0.403,,,0,17694,0,0,23,43740,0,0,0,20982,0,0,0,36068,0,0,0,53112,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,1,33098,0,0 +17-43094546-T-A,17,43094546,rs786203732,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn329Tyr,p.Asn329Tyr,c.985A>T,missense_variant,Conflicting interpretations of pathogenicity,187436,,2,152250,0.000013136288998357964,0,0,afr,0.00000799,22.2,0.554,0.00,0.00,-0.529,0.0200,0.354,2,41462,0,0,0,15286,0,0,0,3472,0,0,0,5206,0,0,0,10630,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43094548-C-G,17,43094548,rs1567801307,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys328Ser,p.Cys328Ser,c.983G>C,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,15.8,0.525,0.00,0.0200,2.43,0.140,0.969,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094548-CAT-C,17,43094548,rs80357772,CAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys328Ter,p.Cys328Ter,c.981_982del,frameshift_variant,Pathogenic,55772,,5,833108,0.000006001622838815616,0,0,nfe,0.0000012299999999999999,23.4,,0.00,0.0200,2.43,,,0,15786,0,0,0,984,0,0,0,5152,0,0,1,3630,0,0,0,276,0,0,0,1620,0,0,4,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094549-A-G,17,43094549,rs748156170,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys328Arg,p.Cys328Arg,c.982T>C,missense_variant,Conflicting interpretations of pathogenicity,230150,,6,985244,0.000006089862003726996,0,0,nfe,0.00000113,22.2,0.489,0.00,0.0100,1.03,0.0200,0.443,1,57208,0,0,0,16262,0,0,0,8624,0,0,0,8834,0,0,0,10876,0,0,0,1936,0,0,4,829916,0,0,0,912,0,0,1,21284,0,0,0,29392,0,0 +17-43094550-T-C,17,43094550,rs1800063,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr327Thr,p.Thr327Thr,c.981A>G,synonymous_variant,Benign,55771,,972,1614214,0.0006021506442144597,3,0,amr,0.0018471999999999998,7.60,,0.00,0.0100,-0.442,,,22,75064,0,0,129,60032,0,0,279,29604,3,0,0,44892,0,0,10,64022,0,0,14,6062,0,0,369,1180032,0,0,0,912,0,0,46,91082,0,0,103,62512,0,0 +17-43094551-G-A,17,43094551,rs2154481430,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr327Ile,p.Thr327Ile,c.980C>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,18.5,0.561,0.00,0.0300,1.61,0.0800,0.677,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094555-C-G,17,43094555,rs773433679,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu326Gln,p.Glu326Gln,c.976G>C,missense_variant,Conflicting interpretations of pathogenicity,801090,,21,1461856,0.000014365300002188999,0,0,sas,0.00015298,23.6,0.741,0.00,0.0100,5.03,0.0100,0.939,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53394,0,0,0,5768,0,0,0,1112008,0,0,,,,,20,86254,0,0,1,60396,0,0 +17-43094556-C-T,17,43094556,rs786201624,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys325Lys,p.Lys325Lys,c.975G>A,synonymous_variant,Likely benign,184694,,16,1614038,0.000009913025591714692,0,0,nfe,0.00000763,8.06,,0.00,0.0100,1.77,,,1,74920,0,0,0,59998,0,0,0,29606,0,0,0,44904,0,0,0,63998,0,0,0,6084,0,0,15,1180040,0,0,0,912,0,0,0,91088,0,0,0,62488,0,0 +17-43094559-A-T,17,43094559,rs2154481654,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Arg,p.Ser324Arg,c.972T>A,missense_variant,,,,1,628752,0.000001590452197368756,0,0,,,23.3,0.691,0.00,0.0300,1.92,0.0200,0.677,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36068,0,0,0,53126,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094560-C-T,17,43094560,rs1462728426,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Asn,p.Ser324Asn,c.971G>A,missense_variant,Conflicting interpretations of pathogenicity,481450,,1,628760,0.0000015904319613206948,0,0,,,15.8,0.539,0.00,0.00,3.57,0.200,0.677,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53132,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094560-C-A,17,43094560,rs1462728426,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser324Ile,p.Ser324Ile,c.971G>T,missense_variant,,,,1,628760,0.0000015904319613206948,0,0,,,23.3,0.677,0.00,0.00,3.57,0.00,0.985,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36068,0,0,0,53132,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094562-T-A,17,43094562,rs45586033,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly323Gly,p.Gly323Gly,c.969A>T,synonymous_variant,Likely benign,184649,,5,1461866,0.0000034202861274562783,0,0,nfe,8.4e-7,9.86,,0.00,0.0700,0.368,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39698,0,0,0,53404,0,0,0,5768,0,0,4,1112008,0,0,,,,,0,86254,0,0,1,60396,0,0 +17-43094567-C-G,17,43094567,rs80357252,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala322Pro,p.Ala322Pro,c.964G>C,missense_variant,Conflicting interpretations of pathogenicity,55767,,14,1614044,0.000008673865148657658,0,0,afr,0.00001063,19.7,0.670,0.00,0.0100,4.10,0.0300,0.194,3,74928,0,0,0,60004,0,0,0,29606,0,0,0,44898,0,0,0,64020,0,0,0,6084,0,0,11,1180030,0,0,0,910,0,0,0,91080,0,0,0,62484,0,0 +17-43094567-C-T,17,43094567,rs80357252,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala322Thr,p.Ala322Thr,c.964G>A,missense_variant,Conflicting interpretations of pathogenicity,55766,,12,1461866,0.000008208686705895068,0,0,nfe,0.00000575,15.6,0.548,0.00,0.0100,4.10,0.0900,0.0470,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53408,0,0,0,5768,0,0,12,1112006,0,0,,,,,0,86254,0,0,0,60396,0,0 +17-43094569-C-T,17,43094569,rs80357292,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Trp321Ter,p.Trp321Ter,c.962G>A,stop_gained,Pathogenic,37712,,3,628762,0.000004771280707167418,0,0,nfe,9.5e-7,34.0,,0.00,0.0800,7.09,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53138,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69792,0,0,1,33098,0,0 +17-43094574-G-A,17,43094574,rs1057524333,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn319Asn,p.Asn319Asn,c.957C>T,synonymous_variant,Likely benign,392036,,3,628758,0.000004771311060853301,0,0,nfe,0.00000228,9.06,,0.00,0.0500,7.00,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53132,0,0,0,4148,0,0,3,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094575-T-C,17,43094575,rs397507258,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn319Ser,p.Asn319Ser,c.956A>G,missense_variant,Conflicting interpretations of pathogenicity,37711,,1,628766,0.0000015904167846225783,0,0,,,2.49,0.417,0.00,0.0300,0.279,1.00,0.00100,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33098,0,0 +17-43094577-A-C,17,43094577,rs1135401826,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Gln,p.His318Gln,c.954T>G,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,7.00,0.488,0.00,-0.0100,0.983,1.00,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094577-A-T,17,43094577,rs1135401826,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Gln,p.His318Gln,c.954T>A,missense_variant,Conflicting interpretations of pathogenicity,431184,,1,1461876,6.840525461803874e-7,0,0,,,6.86,0.488,0.00,-0.0100,0.983,1.00,0.00,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094578-T-G,17,43094578,rs776278453,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Pro,p.His318Pro,c.953A>C,missense_variant,,,,1,1461876,6.840525461803874e-7,0,0,,,22.0,0.556,0.00,0.00,1.79,0.0200,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094578-T-C,17,43094578,rs776278453,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His318Arg,p.His318Arg,c.953A>G,missense_variant,Conflicting interpretations of pathogenicity,569329,,6,1461876,0.000004104315277082324,0,0,sas,0.000021940000000000003,20.7,0.508,0.00,0.0100,1.79,0.0400,0.00300,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,5,86254,0,0,0,60394,0,0 +17-43094580-T-C,17,43094580,rs759419385,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln317Gln,p.Gln317Gln,c.951A>G,synonymous_variant,Likely benign,219860,,3,1461874,0.000002052160446112319,0,0,eas,0.00000835,6.59,,0.00,0.0100,-1.78,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,2,39696,0,0,0,53416,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094583-G-T,17,43094583,rs1555592782,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser316Arg,p.Ser316Arg,c.948C>A,missense_variant,Conflicting interpretations of pathogenicity,1303010,,3,628756,0.00000477132623784107,0,0,,,24.8,0.756,0.00,0.0100,6.97,0.0200,0.882,0,17694,0,0,1,43740,0,0,0,20982,0,0,0,36066,0,0,0,53134,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69792,0,0,2,33096,0,0 +17-43094584-C-T,17,43094584,rs1465372282,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser316Asn,p.Ser316Asn,c.947G>A,missense_variant,Conflicting interpretations of pathogenicity,441333,,4,1461870,0.000002736221415036905,0,0,sas,0.000015830000000000003,18.9,0.543,0.00,0.00,3.55,0.0600,0.994,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53412,0,0,0,5768,0,0,0,1112008,0,0,,,,,4,86254,0,0,0,60394,0,0 +17-43094585-T-C,17,43094585,rs55874646,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser316Gly,p.Ser316Gly,c.946A>G,missense_variant,Benign,37709,,60,1614080,0.000037172878667724025,0,0,nfe,0.00003774,24.2,0.751,0.00,0.0600,2.92,0.0100,0.991,2,74944,0,0,0,60004,0,0,0,29606,0,0,0,44900,0,0,0,64028,0,0,0,6084,0,0,57,1180034,0,0,0,912,0,0,0,91086,0,0,1,62482,0,0 +17-43094588-T-C,17,43094588,rs80357050,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg315Gly,p.Arg315Gly,c.943A>G,missense_variant,Conflicting interpretations of pathogenicity,55761,,1,628764,0.0000015904218434897671,0,0,,,22.0,0.607,0.00,0.0500,1.05,0.0200,0.285,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094590-G-A,17,43094590,rs863224766,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala314Val,p.Ala314Val,c.941C>T,missense_variant,Conflicting interpretations of pathogenicity,216676,,1,833110,0.0000012003216862119048,0,0,,,18.4,0.612,0.00,0.0400,0.746,0.0300,0.259,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094591-C-T,17,43094591,rs1597879004,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala314Thr,p.Ala314Thr,c.940G>A,missense_variant,,,,1,152276,0.000006567023037116814,0,0,,,14.9,0.660,0.00,0.0100,1.02,,,0,41574,0,0,0,15292,0,0,0,3472,0,0,0,5186,0,0,0,10598,0,0,0,294,0,0,0,68012,0,0,0,910,0,0,1,4826,0,0,0,2112,0,0 +17-43094594-A-G,17,43094594,rs1131692072,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu313Leu,p.Leu313Leu,c.937T>C,synonymous_variant,Likely benign,427257,,2,628768,0.0000031808234515751436,0,0,nfe,9.5e-7,9.31,,0.00,0.00,0.345,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,2,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094597-C-T,17,43094597,rs752715574,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly312Ser,p.Gly312Ser,c.934G>A,missense_variant,,,,1,152126,0.000006573498284316948,0,0,,,22.9,0.678,0.00,0.0500,2.51,0.0200,0.598,0,41416,0,0,0,15272,0,0,0,3470,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,1,68018,0,0,0,910,0,0,0,4826,0,0,0,2090,0,0 +17-43094597-C-A,17,43094597,rs752715574,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly312Cys,p.Gly312Cys,c.934G>T,missense_variant,,,,1,628766,0.0000015904167846225783,0,0,,,24.6,0.699,0.00,0.0100,2.51,0.00,0.977,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094598-AG-A,17,43094598,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311LeufsTer3,p.Pro311LeufsTer3,c.932del,frameshift_variant,,,,2,833110,0.0000024006433724238097,0,0,nfe,4.4e-7,24.4,,0.00,0.0300,2.27,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094599-G-A,17,43094599,rs1301795658,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311Leu,p.Pro311Leu,c.932C>T,missense_variant,Conflicting interpretations of pathogenicity,628645,,3,1461868,0.0000020521688688718817,0,0,amr,0.000007410000000000001,22.4,0.495,0.00,0.0100,4.15,0.0300,0.704,1,33480,0,0,2,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094599-G-C,17,43094599,rs1301795658,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro311Arg,p.Pro311Arg,c.932C>G,missense_variant,Conflicting interpretations of pathogenicity,1686513,,1,1461868,6.840562896239606e-7,0,0,,,22.0,0.552,0.00,0.00,4.15,0.0300,0.814,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,1,1112000,0,0,,,,,0,86252,0,0,0,60394,0,0 +17-43094600-GC-G,17,43094600,rs80357689,GC,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310HisfsTer4,p.Gln310HisfsTer4,c.930del,frameshift_variant,Pathogenic,55759,,2,628754,0.0000031808942766169283,0,0,nfe,9.5e-7,24.3,,0.00,-0.0400,2.19,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36064,0,0,0,53140,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43094601-CT-C,17,43094601,rs80357844,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310ArgfsTer4,p.Gln310ArgfsTer4,c.929del,frameshift_variant,Pathogenic,37708,,3,833108,0.0000036009737032893692,0,0,nfe,0.00000105,25.1,,0.00,0.0300,3.63,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094602-T-G,17,43094602,rs1597879098,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310Pro,p.Gln310Pro,c.929A>C,missense_variant,Conflicting interpretations of pathogenicity,655576,,1,833100,0.0000012003360941063497,0,0,,,24.1,0.679,0.00,0.00,4.71,0.0300,0.880,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761894,0,0,,,,,1,16460,0,0,0,27298,0,0 +17-43094603-G-A,17,43094603,rs397509338,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln310Ter,p.Gln310Ter,c.928C>T,stop_gained,Pathogenic,55758,,1,833108,0.0000012003245677631232,0,0,,,35.0,,0.00,0.0700,8.80,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094604-T-C,17,43094604,rs757936216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys309Lys,p.Lys309Lys,c.927A>G,synonymous_variant,Likely benign,184110,,6,1461876,0.000004104315277082324,0,0,nfe,0.00000194,9.81,,0.00,0.00,0.825,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,6,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094605-T-G,17,43094605,rs80356877,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys309Thr,p.Lys309Thr,c.926A>C,missense_variant,Conflicting interpretations of pathogenicity,55756,,1,628766,0.0000015904167846225783,0,0,,,25.0,0.732,0.00,0.0100,2.98,0.00,0.994,1,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094606-T-C,17,43094606,rs879255498,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys309Glu,p.Lys309Glu,c.925A>G,missense_variant,Conflicting interpretations of pathogenicity,252893,,2,780978,0.0000025608916000194626,0,0,,,22.1,0.733,0.00,0.00,0.737,0.130,0.831,1,59166,0,0,1,59022,0,0,0,24452,0,0,0,41264,0,0,0,63762,0,0,0,4464,0,0,0,418130,0,0,0,912,0,0,0,74620,0,0,0,35186,0,0 +17-43094607-G-T,17,43094607,rs1555592819,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser308Arg,p.Ser308Arg,c.924C>A,missense_variant,,,,2,1461874,0.0000013681069640748791,0,0,sas,0.00000385,24.4,0.692,0.00,0.00,5.85,0.00,0.994,0,33480,0,0,0,44724,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,0,1112006,0,0,,,,,2,86254,0,0,0,60394,0,0 +17-43094607-G-A,17,43094607,rs1555592819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser308Ser,p.Ser308Ser,c.924C>T,synonymous_variant,Uncertain significance,482944,,3,1461874,0.000002052160446112319,0,0,nfe,2.999999999999999e-7,11.0,,0.00,0.0100,5.85,,,0,33480,0,0,0,44724,0,0,0,26134,0,0,1,39696,0,0,0,53418,0,0,0,5768,0,0,2,1112006,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094608-C-G,17,43094608,rs561998108,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser308Thr,p.Ser308Thr,c.923G>C,missense_variant,Conflicting interpretations of pathogenicity,182129,,5,1614132,0.0000030976400938708852,0,0,afr,0.00001061,22.6,0.723,0.00,0.00,3.03,0.00,0.893,3,75054,0,0,0,60008,0,0,0,29604,0,0,0,44886,0,0,0,64002,0,0,0,6062,0,0,0,1180020,0,0,0,912,0,0,0,91078,0,0,2,62506,0,0 +17-43094615-T-C,17,43094615,rs1264744701,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn306Asp,p.Asn306Asp,c.916A>G,missense_variant,Conflicting interpretations of pathogenicity,2131600,,1,628764,0.0000015904218434897671,0,0,,,15.3,0.435,0.00,0.00,-0.100,0.190,0.566,0,17694,0,0,0,43740,0,0,0,20980,0,0,1,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094616-A-G,17,43094616,rs2154485509,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Cys,p.Cys305Cys,c.915T>C,synonymous_variant,Likely benign,1649738,,1,833110,0.0000012003216862119048,0,0,,,12.8,,0.00,0.0100,3.72,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094617-C-T,17,43094617,rs751124745,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Tyr,p.Cys305Tyr,c.914G>A,missense_variant,Conflicting interpretations of pathogenicity,229918,,1,1461874,6.840534820374396e-7,0,0,,,19.0,0.607,0.00,0.00,3.52,0.100,0.659,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094617-C-A,17,43094617,rs751124745,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Phe,p.Cys305Phe,c.914G>T,missense_variant,Conflicting interpretations of pathogenicity,823049,,11,1461874,0.000007524588302411836,0,0,nfe,0.00000455,23.8,0.694,0.00,0.00,3.52,0.0200,0.959,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,10,1112008,0,0,,,,,0,86254,0,0,1,60394,0,0 +17-43094618-A-G,17,43094618,rs1597879229,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys305Arg,p.Cys305Arg,c.913T>C,missense_variant,Conflicting interpretations of pathogenicity,928767,,1,628766,0.0000015904167846225783,0,0,,,24.5,0.697,0.00,0.00,2.30,0.0300,0.833,1,17694,0,0,0,43740,0,0,0,20980,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094620-A-G,17,43094620,rs1426681028,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Phe304Ser,p.Phe304Ser,c.911T>C,missense_variant,,,,1,152142,0.000006572806982950139,0,0,,,24.0,0.621,0.00,0.00,3.60,,,0,41432,0,0,0,15268,0,0,0,3468,0,0,1,5196,0,0,0,10610,0,0,0,316,0,0,0,68028,0,0,0,910,0,0,0,4822,0,0,0,2092,0,0 +17-43094621-A-T,17,43094621,rs1567801570,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe304Ile,p.Phe304Ile,c.910T>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,20.8,0.559,0.00,0.00,1.38,0.0300,0.566,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094626-G-A,17,43094626,rs1418676444,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala302Val,p.Ala302Val,c.905C>T,missense_variant,Conflicting interpretations of pathogenicity,1035776,,1,152062,0.000006576264944562087,0,0,,,25.0,0.638,0.00,0.0400,7.04,,,0,41388,0,0,0,15254,0,0,0,3468,0,0,0,5194,0,0,0,10592,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4820,0,0,0,2094,0,0 +17-43094629-T-C,17,43094629,rs878854965,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys301Arg,p.Lys301Arg,c.902A>G,missense_variant,Conflicting interpretations of pathogenicity,240831,,1,628768,0.0000015904117257875718,0,0,,,25.3,0.719,0.00,0.0500,2.90,0.0200,0.992,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,0,350106,0,0,,,,,0,69792,0,0,1,33096,0,0 +17-43094630-T-C,17,43094630,rs756859863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys301Glu,p.Lys301Glu,c.901A>G,missense_variant,Conflicting interpretations of pathogenicity,1394854,,1,628766,0.0000015904167846225783,0,0,,,23.7,0.749,0.00,0.0100,6.36,0.0400,0.831,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094631-T-G,17,43094631,rs80356861,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu300Asp,p.Glu300Asp,c.900A>C,missense_variant,Conflicting interpretations of pathogenicity,55747,,4,1461874,0.0000027362139281497583,0,0,nfe,8.4e-7,24.6,0.745,0.00,0.00,2.34,0.0200,0.994,0,33480,0,0,0,44724,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,4,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094634-TAC-T,17,43094634,rs80357670,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val299ArgfsTer4,p.Val299ArgfsTer4,c.895_896del,frameshift_variant,Pathogenic,55744,,1,628764,0.0000015904218434897671,0,0,,,24.8,,0.00,0.0300,2.94,,,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094636-C-A,17,43094636,rs780952576,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val299Leu,p.Val299Leu,c.895G>T,missense_variant,,,,1,628758,0.0000015904370202844338,0,0,,,23.8,0.701,0.00,0.0100,7.14,0.00,0.912,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69792,0,0,0,33096,0,0 +17-43094637-A-G,17,43094637,rs1597879373,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Asn,p.Asn298Asn,c.894T>C,synonymous_variant,Conflicting interpretations of pathogenicity,801089,,1,628762,0.0000015904269023891392,0,0,,,10.8,,0.00,0.0100,3.64,,,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,1,69794,0,0,0,33096,0,0 +17-43094638-T-C,17,43094638,rs749593365,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Ser,p.Asn298Ser,c.893A>G,missense_variant,,,,2,628764,0.0000031808436869795343,0,0,sas,0.00000476,22.6,0.589,0.00,0.0300,2.35,0.120,0.780,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,0,350104,0,0,,,,,2,69794,0,0,0,33096,0,0 +17-43094639-T-C,17,43094639,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn298Asp,p.Asn298Asp,c.892A>G,missense_variant,,,,3,833110,0.0000036009650586357143,0,0,nfe,0.00000105,16.7,0.391,0.00,0.0100,0.385,0.360,0.562,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094640-C-T,17,43094640,rs80357103,C,T,gnomAD Genomes,NA,PASS,ENST00000497488.1,p.Met1?,p.Met1?,c.3G>A,start_lost,Benign,55743,,3,152168,0.000019715051784869355,0,0,afr,0.0000192,18.5,0.593,0.00,0.0300,3.58,0.0500,0.0600,3,41432,0,0,0,15268,0,0,0,3472,0,0,0,5190,0,0,0,10618,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43094641-A-T,17,43094641,rs80356924,A,T,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.2T>A,start_lost,Conflicting interpretations of pathogenicity,55742,,1,628766,0.0000015904167846225783,0,0,,,22.5,0.637,0.00,0.00,0.686,0.0100,0.0600,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53144,0,0,0,4148,0,0,1,350104,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43094642-T-C,17,43094642,rs80357196,T,C,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.1A>G,start_lost,Conflicting interpretations of pathogenicity,142628,,2,1461874,0.0000013681069640748791,0,0,,,17.4,0.579,0.00,0.00,0.161,0.0200,0.0410,0,33480,0,0,0,44722,0,0,0,26134,0,0,1,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094642-T-G,17,43094642,rs80357196,T,G,gnomAD Exomes,PASS,NA,ENST00000497488.1,p.Met1?,p.Met1?,c.1A>C,start_lost,Conflicting interpretations of pathogenicity,55741,,1,1461874,6.840534820374396e-7,0,0,,,15.0,0.502,0.00,0.00,0.161,0.120,0.00700,0,33480,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112008,0,0,,,,,0,86254,0,0,0,60394,0,0 +17-43094645-T-C,17,43094645,rs748675395,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg296Gly,p.Arg296Gly,c.886A>G,missense_variant,Conflicting interpretations of pathogenicity,431183,,8,1614094,0.0000049563408326900415,0,0,nfe,0.00000292,25.2,0.656,0.00,0.0100,1.82,0.0100,0.414,0,74952,0,0,0,59994,0,0,0,29604,0,0,0,44894,0,0,0,64044,0,0,0,6084,0,0,8,1180044,0,0,0,912,0,0,0,91084,0,0,0,62482,0,0 +17-43094645-T-G,17,43094645,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg296Arg,p.Arg296Arg,c.886A>C,synonymous_variant,,,,1,1461864,6.840581613611115e-7,0,0,,,12.4,,0.00,0.0100,1.82,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,1,1112006,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43094647-T-C,17,43094647,rs772684048,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp295Gly,p.Asp295Gly,c.884A>G,missense_variant,Conflicting interpretations of pathogenicity,233188,,42,1461868,0.000028730364164206343,1,0,sas,0.0003695400000000001,23.0,0.605,0.00,0.0100,3.73,0.0300,0.323,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53420,0,0,0,5768,0,0,0,1112006,0,0,,,,,42,86252,1,0,0,60392,0,0 +17-43094650-T-C,17,43094650,rs1555592934,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys294Arg,p.Lys294Arg,c.881A>G,missense_variant,Conflicting interpretations of pathogenicity,531293,,1,628756,0.0000015904420792803568,0,0,,,24.8,0.655,0.00,-0.0400,2.33,0.0300,0.285,0,17692,0,0,0,43738,0,0,0,20982,0,0,1,36066,0,0,0,53144,0,0,0,4146,0,0,0,350102,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43094652-A-C,17,43094652,rs139433219,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr293Thr,p.Thr293Thr,c.879T>G,synonymous_variant,Likely benign,427356,,3,780840,0.00000384201629014907,0,0,afr,0.00000561,9.92,,0.00,0.00,0.974,,,2,59096,0,0,0,58996,0,0,0,24454,0,0,0,41252,0,0,0,63734,0,0,0,4464,0,0,0,418120,0,0,0,912,0,0,0,74630,0,0,1,35182,0,0 +17-43094653-G-C,17,43094653,rs747172803,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr293Ser,p.Thr293Ser,c.878C>G,missense_variant,Conflicting interpretations of pathogenicity,570469,,20,1613932,0.0000123920958255986,1,0,sas,0.00013602999999999998,22.2,0.583,0.00,0.0100,4.17,0.170,0.780,0,74874,0,0,0,59982,0,0,0,29606,0,0,0,44888,0,0,0,63992,0,0,0,6084,0,0,0,1180024,0,0,0,912,0,0,19,91086,1,0,1,62484,0,0 +17-43094653-G-A,17,43094653,rs747172803,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr293Ile,p.Thr293Ile,c.878C>T,missense_variant,Conflicting interpretations of pathogenicity,491193,,1,1461858,6.840609689860438e-7,0,0,,,23.6,0.631,0.00,0.0100,4.17,0.0400,0.677,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39696,0,0,0,53418,0,0,0,5768,0,0,0,1111996,0,0,,,,,1,86254,0,0,0,60392,0,0 +17-43094654-T-C,17,43094654,rs1555592945,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr293Ala,p.Thr293Ala,c.877A>G,missense_variant,,,,1,628754,0.0000015904471383084641,0,0,,,23.9,0.591,0.00,0.00,2.28,0.0400,0.677,0,17692,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43094655-G-A,17,43094655,rs771001707,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu292Leu,p.Leu292Leu,c.876C>T,synonymous_variant,Likely benign,427344,,1,628750,0.0000015904572564612325,0,0,,,10.0,,0.00,0.0200,5.87,,,0,17692,0,0,0,43738,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69790,0,0,0,33094,0,0 +17-43094658-T-C,17,43094658,rs2154488173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu291Leu,p.Leu291Leu,c.873A>G,synonymous_variant,,,,1,1461852,6.840637766340232e-7,0,0,,,7.95,,0.00,0.00,0.174,,,0,33478,0,0,0,44722,0,0,0,26132,0,0,0,39696,0,0,0,53418,0,0,0,5766,0,0,1,1111998,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43094660-A-C,17,43094660,rs1209004897,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu291Val,p.Leu291Val,c.871T>G,missense_variant,Conflicting interpretations of pathogenicity,1764447,,1,152158,0.000006572115826969334,0,0,,,24.4,0.731,0.00,0.0300,1.93,,,0,41438,0,0,0,15266,0,0,0,3472,0,0,0,5192,0,0,0,10606,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43094661-T-A,17,43094661,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu290Phe,p.Leu290Phe,c.870A>T,missense_variant,,,,1,628748,0.0000015904623155858944,0,0,,,24.4,0.687,0.00,-0.0100,1.03,0.0100,0.831,0,17690,0,0,0,43740,0,0,0,20982,0,0,0,36066,0,0,0,53140,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43094665-C-T,17,43094665,rs776999497,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser289Asn,p.Ser289Asn,c.866G>A,missense_variant,Conflicting interpretations of pathogenicity,441442,,2,628720,0.000003181066293421555,0,0,,,23.9,0.603,0.00,0.0100,2.47,0.0300,0.566,1,17688,0,0,0,43730,0,0,0,20980,0,0,0,36066,0,0,0,53142,0,0,0,4148,0,0,1,350080,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43094667-G-T,17,43094667,rs759366409,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser288Arg,p.Ser288Arg,c.864C>A,missense_variant,,,,1,628700,0.0000015905837442341339,0,0,,,23.1,0.594,0.00,0.0100,5.54,0.0300,0.566,0,17688,0,0,0,43726,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,1,350072,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43094673-C-T,17,43094673,rs2054034679,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu286Glu,p.Glu286Glu,c.858G>A,synonymous_variant,Likely benign,1104640,,2,628676,0.0000031812889310232935,0,0,nfe,9.5e-7,8.73,,0.00,0.00,2.37,,,0,17686,0,0,0,43722,0,0,0,20978,0,0,0,36066,0,0,0,53142,0,0,0,4146,0,0,2,350056,0,0,,,,,0,69790,0,0,0,33090,0,0 +17-43094675-C-T,17,43094675,rs886037980,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu286Lys,p.Glu286Lys,c.856G>A,missense_variant,,,,1,628660,0.0000015906849489390132,0,0,,,17.3,0.677,0.00,0.0300,2.37,0.140,0.323,1,17686,0,0,0,43730,0,0,0,20978,0,0,0,36064,0,0,0,53136,0,0,0,4146,0,0,0,350046,0,0,,,,,0,69782,0,0,0,33092,0,0 +17-43094676-A-T,17,43094676,rs1345896191,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His285Gln,p.His285Gln,c.855T>A,missense_variant,,,,1,628674,0.0000015906495258273763,0,0,,,16.3,0.568,0.00,0.00,0.260,0.100,0.596,0,17686,0,0,0,43730,0,0,0,20976,0,0,0,36064,0,0,0,53138,0,0,0,4146,0,0,1,350046,0,0,,,,,0,69796,0,0,0,33092,0,0 +17-43094677-T-C,17,43094677,rs2154489161,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His285Arg,p.His285Arg,c.854A>G,missense_variant,Conflicting interpretations of pathogenicity,1479741,,3,1461790,0.0000020522783710382476,0,0,sas,0.00000385,8.31,0.525,0.0200,0.0100,-0.268,0.320,0.465,0,33472,0,0,0,44712,0,0,0,26130,0,0,0,39694,0,0,0,53414,0,0,0,5766,0,0,1,1111958,0,0,,,,,2,86256,0,0,0,60388,0,0 +17-43094679-C-G,17,43094679,rs1597879571,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284His,p.Gln284His,c.852G>C,missense_variant,Conflicting interpretations of pathogenicity,822538,,5,628556,0.000007954740707271906,0,0,eas,0.00005409999999999997,24.3,0.607,0.00,-0.0200,5.04,0.0200,0.365,0,17684,0,0,0,43716,0,0,0,20976,0,0,5,36064,0,0,0,53136,0,0,0,4146,0,0,0,349962,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43094680-T-TGTAATGA,17,43094680,rs80357989,T,TGTAATGA,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284LeufsTer5,p.Gln284LeufsTer5,c.844_850dup,frameshift_variant,Pathogenic,55735,,1,1461682,6.84143336238662e-7,0,0,,,24.4,,0.0100,0.0700,1.02,,,0,33470,0,0,0,44702,0,0,0,26128,0,0,0,39694,0,0,0,53410,0,0,0,5766,0,0,1,1111882,0,0,,,,,0,86250,0,0,0,60380,0,0 +17-43094680-T-C,17,43094680,rs80357039,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln284Arg,p.Gln284Arg,c.851A>G,missense_variant,Conflicting interpretations of pathogenicity,55739,,2,1461682,0.000001368286672477324,0,0,,,21.0,0.595,0.00,0.00,1.02,0.0600,0.213,0,33470,0,0,0,44702,0,0,0,26128,0,0,0,39694,0,0,0,53410,0,0,1,5766,0,0,0,1111882,0,0,,,,,0,86250,0,0,1,60380,0,0 +17-43094682-T-C,17,43094682,rs1567801796,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu283Leu,p.Leu283Leu,c.849A>G,synonymous_variant,Likely benign,1610957,,1,628572,0.000001590907644629414,0,0,,,10.9,,0.00,0.00,2.34,,,0,17682,0,0,1,43722,0,0,0,20974,0,0,0,36062,0,0,0,53132,0,0,0,4146,0,0,0,349982,0,0,,,,,0,69790,0,0,0,33082,0,0 +17-43094684-ATGAG-A,17,43094684,rs80357919,ATGAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282TyrfsTer15,p.Ser282TyrfsTer15,c.843_846del,frameshift_variant,Pathogenic,17683,,1,628368,0.0000015914241336287016,0,0,,,27.9,,0.00,-0.0400,2.28,,,0,17666,0,0,0,43702,0,0,0,20972,0,0,0,36064,0,0,0,53132,0,0,0,4146,0,0,1,349824,0,0,,,,,0,69788,0,0,0,33074,0,0 +17-43094685-T-A,17,43094685,rs1220045136,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282Ser,p.Ser282Ser,c.846A>T,synonymous_variant,Likely benign,1763483,,2,1461464,0.0000013684907736352042,0,0,,,9.12,,0.00,0.00,0.162,,,0,33450,0,0,1,44688,0,0,0,26124,0,0,0,39694,0,0,0,53408,0,0,0,5766,0,0,1,1111718,0,0,,,,,0,86246,0,0,0,60370,0,0 +17-43094687-A-G,17,43094687,rs2054037292,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser282Pro,p.Ser282Pro,c.844T>C,missense_variant,Conflicting interpretations of pathogenicity,964205,,1,833106,0.0000012003274493281767,0,0,,,26.4,0.721,0.00,-0.0100,4.72,0.00,0.996,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761900,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094690-T-A,17,43094690,rs1300771163,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser281Cys,p.Ser281Cys,c.841A>T,missense_variant,Uncertain significance,2450671,,1,628126,0.0000015920372664083322,0,0,,,25.7,0.649,0.00,0.0300,3.61,0.00,0.984,0,17648,0,0,1,43670,0,0,0,20970,0,0,0,36060,0,0,0,53130,0,0,0,4146,0,0,0,349656,0,0,,,,,0,69780,0,0,0,33066,0,0 +17-43094692-G-C,17,43094692,rs80357199,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala280Gly,p.Ala280Gly,c.839C>G,missense_variant,Benign,55731,,38,780138,0.000048709330913248684,0,0,amr,0.0004825600000000001,25.7,0.643,0.00,-0.0100,6.99,0.0100,0.831,0,59038,0,0,38,58926,0,0,0,24434,0,0,0,41260,0,0,0,63708,0,0,0,4462,0,0,0,417664,0,0,0,912,0,0,0,74582,0,0,0,35152,0,0 +17-43094694-A-G,17,43094694,rs775477245,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His279His,p.His279His,c.837T>C,synonymous_variant,Likely benign,224429,,7,780252,0.00000897146050250432,0,0,eas,0.00007922999999999997,9.50,,0.00,0.00,1.31,,,0,59074,0,0,0,58932,0,0,0,24434,0,0,7,41260,0,0,0,63728,0,0,0,4462,0,0,0,417696,0,0,0,912,0,0,0,74598,0,0,0,35156,0,0 +17-43094695-T-C,17,43094695,rs80357482,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His279Arg,p.His279Arg,c.836A>G,missense_variant,Conflicting interpretations of pathogenicity,55730,,1,1461028,6.844495793372885e-7,0,0,,,12.9,0.506,0.00,0.00,-1.39,0.360,0.348,0,33432,0,0,0,44638,0,0,0,26116,0,0,0,39688,0,0,0,53404,0,0,0,5764,0,0,1,1111424,0,0,,,,,0,86220,0,0,0,60342,0,0 +17-43094696-G-C,17,43094696,rs1380919500,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His279Asp,p.His279Asp,c.835C>G,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,23.1,0.541,0.00,0.0100,4.19,0.0100,0.979,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094696-G-A,17,43094696,rs1380919500,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.His279Tyr,p.His279Tyr,c.835C>T,missense_variant,Conflicting interpretations of pathogenicity,659023,,1,152126,0.000006573498284316948,0,0,,,22.9,0.520,0.0200,0.0100,4.19,,,0,41408,0,0,0,15264,0,0,0,3470,0,0,1,5194,0,0,0,10604,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43094697-A-C,17,43094697,rs762956862,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr278Thr,p.Thr278Thr,c.834T>G,synonymous_variant,Likely benign,184380,,2,1461100,0.0000013688317021422216,0,0,,,10.6,,0.00,0.00,2.31,,,0,33430,0,0,0,44650,0,0,0,26116,0,0,1,39690,0,0,0,53408,0,0,0,5762,0,0,0,1111472,0,0,,,,,0,86220,0,0,1,60352,0,0 +17-43094698-G-A,17,43094698,rs2154490731,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr278Ile,p.Thr278Ile,c.833C>T,missense_variant,Conflicting interpretations of pathogenicity,1442869,,1,627694,0.0000015931329596905498,0,0,,,17.8,0.500,0.00,0.00,1.76,0.180,0.465,0,17634,0,0,0,43638,0,0,0,20956,0,0,0,36058,0,0,0,53124,0,0,0,4144,0,0,1,349334,0,0,,,,,0,69758,0,0,0,33048,0,0 +17-43094703-T-C,17,43094703,rs186274774,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276Thr,p.Thr276Thr,c.828A>G,synonymous_variant,Likely benign,184319,,45,1612746,0.00002790271995714142,0,0,afr,0.00043673000000000014,10.8,,0.00,0.0100,0.0470,,,43,74976,0,0,0,59876,0,0,0,29576,0,0,0,44876,0,0,0,64000,0,0,0,6058,0,0,0,1179010,0,0,0,912,0,0,0,91016,0,0,2,62446,0,0 +17-43094704-G-C,17,43094704,rs80357436,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276Arg,p.Thr276Arg,c.827C>G,missense_variant,Benign,37706,,22,1612390,0.000013644341629506509,0,0,nfe,0.00001145,17.5,0.708,0.00,0.0100,2.89,0.150,0.844,0,74776,0,0,0,59844,0,0,0,29574,0,0,0,44872,0,0,1,63950,0,0,0,6080,0,0,21,1178946,0,0,0,912,0,0,0,91010,0,0,0,62426,0,0 +17-43094704-G-T,17,43094704,rs80357436,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr276Lys,p.Thr276Lys,c.827C>A,missense_variant,Conflicting interpretations of pathogenicity,252891,,1,151990,0.000006579380222383052,0,0,,,21.8,0.613,0.00,0.0200,2.89,,,0,41370,0,0,0,15248,0,0,0,3470,0,0,0,5186,0,0,0,10570,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4806,0,0,0,2092,0,0 +17-43094706-G-A,17,43094706,rs397509328,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Gly,p.Gly275Gly,c.825C>T,synonymous_variant,Likely benign,55727,,73,1612298,0.000045276989737629145,0,0,eas,0.00005789999999999997,10.3,,0.0200,0.0400,4.90,,,0,74882,0,0,0,59836,0,0,0,29568,0,0,6,44860,0,0,0,63936,0,0,0,6058,0,0,65,1178824,0,0,0,910,0,0,0,91000,0,0,2,62424,0,0 +17-43094706-G-GCCACATGGCT,17,43094706,rs387906563,G,GCCACATGGCT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr276AlafsTer14,p.Thr276AlafsTer14,c.815_824dup,frameshift_variant,Pathogenic,55723,,9,1612180,0.000005582503194432383,0,0,afr,0.000025540000000000003,25.2,,0.00,0.0400,4.90,,,5,74760,0,0,3,59816,0,0,0,29568,0,0,0,44872,0,0,0,63936,0,0,0,6080,0,0,0,1178832,0,0,0,910,0,0,0,91004,0,0,1,62402,0,0 +17-43094706-G-C,17,43094706,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly275Gly,p.Gly275Gly,c.825C>G,synonymous_variant,,,,1,1460240,6.848189338738837e-7,0,0,,,9.90,,0.0200,0.0600,4.90,,,1,33400,0,0,0,44580,0,0,0,26098,0,0,0,39684,0,0,0,53378,0,0,0,5764,0,0,0,1110830,0,0,,,,,0,86194,0,0,0,60312,0,0 +17-43094707-C-T,17,43094707,rs397509327,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Asp,p.Gly275Asp,c.824G>A,missense_variant,Benign,55726,,57,1611772,0.00003536480345855369,0,0,eas,0.0010070299999999997,22.8,0.691,0.00,0.0200,4.26,0.150,0.994,0,74876,0,0,0,59770,0,0,0,29530,0,0,57,44852,0,0,0,63942,0,0,0,6052,0,0,0,1178478,0,0,0,912,0,0,0,90958,0,0,0,62402,0,0 +17-43094708-C-T,17,43094708,rs8176153,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gly275Ser,p.Gly275Ser,c.823G>A,missense_variant,Benign,55725,,461,1611784,0.00028601847393943606,5,0,sas,0.00453709,25.0,0.657,0.0600,0.0600,7.13,0.0100,0.927,0,74866,0,0,0,59778,0,0,0,29538,0,0,0,44854,0,0,0,63926,0,0,0,6054,0,0,1,1178474,0,0,0,912,0,0,447,90966,5,0,13,62416,0,0 +17-43094711-A-C,17,43094711,rs755285181,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys274Gly,p.Cys274Gly,c.820T>G,missense_variant,,,,1,626708,0.0000015956394365478022,0,0,,,24.8,0.535,0.00,-0.0200,2.92,0.00,0.990,0,17584,0,0,0,43550,0,0,0,20928,0,0,0,36044,0,0,0,53088,0,0,0,4142,0,0,1,348642,0,0,,,,,0,69726,0,0,0,33004,0,0 +17-43094712-T-C,17,43094712,rs779225364,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro273Pro,p.Pro273Pro,c.819A>G,synonymous_variant,Likely benign,427325,,1,626766,0.0000015954917784308658,0,0,,,11.8,,0.00,0.0100,-0.238,,,0,17588,0,0,0,43556,0,0,0,20934,0,0,1,36044,0,0,0,53094,0,0,0,4140,0,0,0,348674,0,0,,,,,0,69726,0,0,0,33010,0,0 +17-43094714-G-A,17,43094714,rs1597879824,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro273Ser,p.Pro273Ser,c.817C>T,missense_variant,Conflicting interpretations of pathogenicity,801088,,1,626550,0.0000015960418162955869,0,0,,,25.2,0.593,0.0200,0.0400,7.02,0.00,0.992,0,17586,0,0,0,43542,0,0,0,20932,0,0,0,36040,0,0,0,53098,0,0,1,4140,0,0,0,348510,0,0,,,,,0,69692,0,0,0,33010,0,0 +17-43094716-T-C,17,43094716,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu272Gly,p.Glu272Gly,c.815A>G,missense_variant,,,,2,626566,0.0000031920021194894074,0,0,eas,0.00000919,27.5,0.609,0.190,0.110,6.36,0.00,0.993,0,17586,0,0,0,43540,0,0,0,20920,0,0,2,36036,0,0,0,53092,0,0,0,4140,0,0,0,348550,0,0,,,,,0,69704,0,0,0,32998,0,0 +17-43094717-C-T,17,43094717,rs886040321,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu272Lys,p.Glu272Lys,c.814G>A,missense_variant,Conflicting interpretations of pathogenicity,2128795,,1,626470,0.000001596245630277587,0,0,,,23.8,0.534,0.0100,0.0400,5.99,0.180,0.878,0,17588,0,0,0,43542,0,0,0,20920,0,0,1,36036,0,0,0,53086,0,0,0,4140,0,0,0,348460,0,0,,,,,0,69692,0,0,0,33006,0,0 +17-43094718-C-T,17,43094718,rs2054043820,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Val,p.Val271Val,c.813G>A,synonymous_variant,Likely benign,934452,,2,1459564,0.0000013702722182788833,0,0,nfe,2.999999999999999e-7,11.0,,0.0900,0.110,5.93,,,0,33364,0,0,0,44518,0,0,0,26068,0,0,0,39666,0,0,0,53372,0,0,0,5758,0,0,2,1110356,0,0,,,,,0,86164,0,0,0,60298,0,0 +17-43094719-A-C,17,43094719,rs753099787,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Gly,p.Val271Gly,c.812T>G,missense_variant,Conflicting interpretations of pathogenicity,252383,,1,626544,0.0000015960571005388289,0,0,,,23.0,0.656,0.0800,0.0500,0.990,0.00,0.414,0,17578,0,0,0,43554,0,0,0,20924,0,0,0,36038,0,0,0,53086,0,0,0,4136,0,0,1,348520,0,0,,,,,0,69712,0,0,0,32996,0,0 +17-43094720-C-T,17,43094720,rs80357244,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val271Met,p.Val271Met,c.811G>A,missense_variant,Conflicting interpretations of pathogenicity,55720,,88,1611680,0.0000546014097091234,0,0,eas,0.0016300999999999996,21.4,0.559,0.00,0.0200,2.52,0.120,0.688,0,74904,0,0,0,59802,0,0,0,29524,0,0,88,44860,0,0,0,63944,0,0,0,6052,0,0,0,1178318,0,0,0,912,0,0,0,90952,0,0,0,62412,0,0 +17-43094720-C-G,17,43094720,rs80357244,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val271Leu,p.Val271Leu,c.811G>C,missense_variant,Conflicting interpretations of pathogenicity,55721,,4,1459460,0.0000027407397256519535,0,0,nfe,8.4e-7,22.7,0.568,0.00,0.00,2.52,0.0100,0.770,0,33358,0,0,0,44530,0,0,0,26054,0,0,0,39668,0,0,0,53360,0,0,0,5758,0,0,4,1110294,0,0,,,,,0,86140,0,0,0,60298,0,0 +17-43094721-AT-A,17,43094721,rs80357965,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His270LeufsTer28,p.His270LeufsTer28,c.809del,frameshift_variant,Pathogenic,55714,,1,1459536,6.851492529132547e-7,0,0,,,23.2,,0.00,-0.0600,1.03,,,0,33352,0,0,0,44526,0,0,0,26064,0,0,0,39664,0,0,0,53368,0,0,0,5756,0,0,0,1110354,0,0,,,,,0,86154,0,0,1,60298,0,0 +17-43094721-A-G,17,43094721,rs778359104,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His270His,p.His270His,c.810T>C,synonymous_variant,Likely benign,427327,,11,1611640,0.0000068253456106822865,0,0,nfe,0.00000501,8.13,,0.00,0.00,1.03,,,0,74784,0,0,0,59774,0,0,0,29534,0,0,0,44868,0,0,0,63976,0,0,0,6072,0,0,11,1178370,0,0,0,912,0,0,0,90962,0,0,0,62388,0,0 +17-43094724-C-T,17,43094724,rs149867679,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu269Leu,p.Leu269Leu,c.807G>A,synonymous_variant,Benign,136540,,77,1611378,0.00004778518758478768,0,0,afr,0.0006748500000000002,7.75,,0.00,0.0300,2.38,,,63,74880,0,0,9,59780,0,0,0,29500,0,0,0,44854,0,0,0,63956,0,0,0,6052,0,0,0,1178146,0,0,0,912,0,0,1,90900,0,0,4,62398,0,0 +17-43094724-C-A,17,43094724,rs149867679,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu269Phe,p.Leu269Phe,c.807G>T,missense_variant,,,,1,1459194,6.853098354296961e-7,0,0,,,14.9,0.524,0.00,0.0800,2.38,0.0900,0.167,0,33354,0,0,0,44510,0,0,0,26028,0,0,0,39670,0,0,0,53362,0,0,0,5758,0,0,0,1110140,0,0,,,,,1,86088,0,0,0,60284,0,0 +17-43094725-A-G,17,43094725,rs2154492047,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu269Ser,p.Leu269Ser,c.806T>C,missense_variant,,,,2,1459418,0.0000013704093001456745,0,0,nfe,2.999999999999999e-7,23.5,0.589,0.00,0.00,1.33,0.0700,0.939,0,33358,0,0,0,44522,0,0,0,26052,0,0,0,39666,0,0,0,53352,0,0,0,5754,0,0,2,1110278,0,0,,,,,0,86148,0,0,0,60288,0,0 +17-43094727-G-A,17,43094727,rs771076131,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn268Asn,p.Asn268Asn,c.804C>T,synonymous_variant,Benign/Likely benign,415558,,9,1611386,0.00000558525393667315,0,0,nfe,0.00000183,9.77,,0.0700,0.0700,4.93,,,0,74760,0,0,0,59772,0,0,0,29526,0,0,0,44860,0,0,0,63928,0,0,1,6072,0,0,6,1178246,0,0,0,910,0,0,0,90948,0,0,2,62364,0,0 +17-43094727-G-C,17,43094727,rs771076131,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn268Lys,p.Asn268Lys,c.804C>G,missense_variant,Conflicting interpretations of pathogenicity,441285,,28,1611504,0.00001737507322352287,1,0,sas,0.00021789999999999998,24.5,0.546,0.00,-0.0100,4.93,0.00,0.717,0,74882,0,0,0,59792,0,0,0,29526,0,0,0,44848,0,0,0,63928,0,0,0,6050,0,0,0,1178238,0,0,0,910,0,0,28,90944,1,0,0,62386,0,0 +17-43094730-T-A,17,43094730,rs2154492181,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267Ser,p.Ser267Ser,c.801A>T,synonymous_variant,,,,1,626298,0.000001596684006654979,0,0,,,12.3,,0.0700,0.0900,2.92,,,0,17566,0,0,0,43530,0,0,0,20912,0,0,0,36036,0,0,0,53076,0,0,0,4136,0,0,0,348376,0,0,,,,,1,69682,0,0,0,32984,0,0 +17-43094731-GAA-G,17,43094731,rs80357724,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267LysfsTer19,p.Ser267LysfsTer19,c.798_799del,frameshift_variant,Pathogenic,37698,,2,1459238,0.0000013705783429433718,0,0,nfe,2.999999999999999e-7,26.0,,0.00,-0.0500,8.80,,,0,33344,0,0,0,44500,0,0,0,26052,0,0,0,39662,0,0,0,53346,0,0,0,5756,0,0,2,1110198,0,0,,,,,0,86106,0,0,0,60274,0,0 +17-43094732-A-G,17,43094732,rs587781496,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser267Pro,p.Ser267Pro,c.799T>C,missense_variant,Conflicting interpretations of pathogenicity,141103,,4,626208,0.000006387653942460013,0,0,sas,0.00001144,19.1,0.549,0.00,-0.0100,2.28,0.0500,0.996,0,17558,0,0,0,43524,0,0,0,20900,0,0,0,36040,0,0,0,53064,0,0,0,4134,0,0,0,348360,0,0,,,,,3,69650,0,0,1,32978,0,0 +17-43094736-AGAAC-A,17,43094736,rs80357707,AGAAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser264MetfsTer33,p.Ser264MetfsTer33,c.791_794del,frameshift_variant,Pathogenic,55705,,2,1458418,0.0000013713489548263942,0,0,,,29.0,,0.660,0.680,1.74,,,0,33284,0,0,1,44330,0,0,0,26012,0,0,0,39656,0,0,0,53320,0,0,0,5750,0,0,1,1109808,0,0,,,,,0,86026,0,0,0,60232,0,0 +17-43094736-A-G,17,43094736,rs201441987,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,c.787+8T>C,,c.787+8T>C,splice_region_variant,Benign,55708,,67,1610722,0.00004159625310885429,0,0,eas,0.001066819999999999,12.2,,0.00,0.0100,1.74,,,0,74856,0,0,0,59608,0,0,0,29482,0,0,60,44846,0,0,0,63936,0,0,0,6044,0,0,2,1177844,0,0,0,912,0,0,0,90848,0,0,5,62346,0,0 +17-43094737-G-T,17,43094737,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser265Tyr,p.Ser265Tyr,c.794C>A,missense_variant,,,,1,833110,0.0000012003216862119048,0,0,,,24.3,0.582,0.170,0.120,4.07,0.00,0.988,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761904,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094738-A-T,17,43094738,rs1567802051,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser265Thr,p.Ser265Thr,c.793T>A,missense_variant,,,,1,626340,0.0000015965769390426926,0,0,,,23.9,0.529,0.0400,0.100,2.35,0.0200,0.846,0,17538,0,0,0,43454,0,0,0,20882,0,0,0,36046,0,0,0,53076,0,0,1,4132,0,0,0,348586,0,0,,,,,0,69632,0,0,0,32994,0,0 +17-43094743-C-T,17,43094743,rs397509319,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000468300.5,c.787+1G>A,,c.787+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,182127,,4,1611122,0.000002482741840779283,0,0,afr,0.00001066,16.4,0.524,0.0100,0.0100,2.02,0.140,0.175,3,74694,0,0,0,59616,0,0,0,29480,0,0,0,44870,0,0,0,63928,0,0,0,6064,0,0,1,1178344,0,0,0,910,0,0,0,90872,0,0,0,62344,0,0 +17-43094744-C-T,17,43094744,rs397509318,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly263Ser,p.Gly263Ser,c.787G>A,missense_variant,Conflicting interpretations of pathogenicity,133725,,2,1459002,0.000001370800040027361,0,0,,,17.1,0.542,0.0100,0.0100,1.92,0.370,0.0450,0,33288,0,0,0,44356,0,0,0,26004,0,0,0,39676,0,0,0,53340,0,0,0,5752,0,0,1,1110262,0,0,,,,,1,86062,0,0,0,60262,0,0 +17-43094745-C-T,17,43094745,rs397509317,C,T,gnomAD Exomes,PASS,NA,ENST00000468300.5,p.Gln262Gln,p.Gln262Gln,c.786G>A,splice_region_variant,Likely benign,55698,,3,1458900,0.000002056343820686819,0,0,nfe,7.200000000000001e-7,12.9,,0.550,0.580,5.00,,,0,33286,0,0,0,44334,0,0,0,25998,0,0,0,39676,0,0,0,53342,0,0,0,5748,0,0,3,1110216,0,0,,,,,0,86040,0,0,0,60260,0,0 +17-43094750-A-T,17,43094750,rs2054049254,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr261Asn,p.Tyr261Asn,c.781T>A,missense_variant,Conflicting interpretations of pathogenicity,1511200,,1,151926,0.0000065821518370785775,0,0,,,21.2,0.474,0.110,0.110,1.87,,,1,41326,0,0,0,15252,0,0,0,3466,0,0,0,5182,0,0,0,10556,0,0,0,316,0,0,0,68020,0,0,0,910,0,0,0,4808,0,0,0,2090,0,0 +17-43094753-T-C,17,43094753,rs786202263,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys260Glu,p.Lys260Glu,c.778A>G,missense_variant,Conflicting interpretations of pathogenicity,1009121,,1,833108,0.0000012003245677631232,0,0,,,23.7,0.493,0.0900,0.100,2.33,0.150,0.858,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094761-T-A,17,43094761,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257Leu,p.His257Leu,c.770A>T,missense_variant,,,,1,833108,0.0000012003245677631232,0,0,,,24.4,0.624,0.00,0.0100,2.88,0.00,0.960,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761902,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094762-G-T,17,43094762,rs1597880077,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257Asn,p.His257Asn,c.769C>A,missense_variant,,,,1,624870,0.0000016003328692368013,0,0,,,23.6,0.543,0.0300,0.0700,4.06,0.00,0.973,0,17412,0,0,0,43154,0,0,0,20788,0,0,0,36034,0,0,1,53066,0,0,0,4134,0,0,0,347944,0,0,,,,,0,69446,0,0,0,32892,0,0 +17-43094763-C-A,17,43094763,rs746067447,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Ser,p.Arg256Ser,c.768G>T,missense_variant,Conflicting interpretations of pathogenicity,1760148,,2,1458962,0.0000013708376229127284,0,0,eas,0.00000835,20.6,0.494,0.0100,0.0200,0.766,0.0600,0.0770,0,33304,0,0,0,44356,0,0,0,25970,0,0,2,39682,0,0,0,53350,0,0,0,5756,0,0,0,1110342,0,0,,,,,0,85956,0,0,0,60246,0,0 +17-43094763-C-T,17,43094763,rs746067447,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg256Arg,p.Arg256Arg,c.768G>A,synonymous_variant,Likely benign,183872,,19,1610992,0.000011793975389077042,0,0,amr,0.00020810999999999998,9.34,,0.0100,0.0300,0.766,,,0,74696,0,0,19,59606,0,0,0,29442,0,0,0,44884,0,0,0,63950,0,0,0,6072,0,0,0,1178330,0,0,0,912,0,0,0,90764,0,0,0,62336,0,0 +17-43094763-C-CCT,17,43094763,,C,CCT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His257GlyfsTer42,p.His257GlyfsTer42,c.766_767dup,frameshift_variant,,,,1,1458962,6.854188114563642e-7,0,0,,,23.1,,0.00,0.0800,0.766,,,0,33304,0,0,0,44356,0,0,0,25970,0,0,0,39682,0,0,0,53350,0,0,0,5756,0,0,1,1110342,0,0,,,,,0,85956,0,0,0,60246,0,0 +17-43094765-T-A,17,43094765,rs587781833,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Trp,p.Arg256Trp,c.766A>T,missense_variant,Conflicting interpretations of pathogenicity,141549,,1,626190,0.0000015969593893227296,0,0,,,25.6,0.581,0.00,0.0100,1.32,0.00,0.837,0,17504,0,0,0,43372,0,0,0,20860,0,0,0,36052,0,0,0,53092,0,0,0,4136,0,0,1,348664,0,0,,,,,0,69552,0,0,0,32958,0,0 +17-43094765-T-G,17,43094765,rs587781833,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg256Arg,p.Arg256Arg,c.766A>C,synonymous_variant,Likely benign,427300,,3,626190,0.0000047908781679681886,0,0,sas,0.00001145,11.4,,0.0400,0.0900,1.32,,,0,17504,0,0,0,43372,0,0,0,20860,0,0,0,36052,0,0,0,53092,0,0,0,4136,0,0,0,348664,0,0,,,,,3,69552,0,0,0,32958,0,0 +17-43094766-C-G,17,43094766,rs62625299,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu255Asp,p.Glu255Asp,c.765G>C,missense_variant,Conflicting interpretations of pathogenicity,662612,,1,1459138,6.853361368150237e-7,0,0,,,22.8,0.522,0.00,-0.0400,3.96,0.0300,0.815,0,33288,0,0,0,44322,0,0,0,25974,0,0,0,39676,0,0,0,53370,0,0,0,5756,0,0,0,1110500,0,0,,,,,1,86004,0,0,0,60248,0,0 +17-43094766-C-T,17,43094766,rs62625299,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu255Glu,p.Glu255Glu,c.765G>A,synonymous_variant,Benign/Likely benign,136091,,274,1611322,0.00017004670698966438,1,0,afr,0.0030649300000000017,7.40,,0.00,-0.0100,3.96,,,255,74806,1,0,8,59596,0,0,0,29446,0,0,0,44866,0,0,0,63974,0,0,0,6050,0,0,2,1178498,0,0,0,912,0,0,0,90814,0,0,9,62360,0,0 +17-43094773-G-A,17,43094773,rs1555593177,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala253Val,p.Ala253Val,c.758C>T,missense_variant,Conflicting interpretations of pathogenicity,489737,,1,1459792,6.850291000361696e-7,0,0,,,20.2,0.525,0.00,-0.0700,3.15,0.160,0.942,0,33300,0,0,0,44372,0,0,0,26004,0,0,0,39674,0,0,0,53372,0,0,0,5762,0,0,1,1111014,0,0,,,,,0,86018,0,0,0,60276,0,0 +17-43094773-G-T,17,43094773,rs1555593177,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala253Glu,p.Ala253Glu,c.758C>A,missense_variant,Conflicting interpretations of pathogenicity,1759651,,1,1459792,6.850291000361696e-7,0,0,,,18.1,0.529,0.0300,0.0600,3.15,0.0400,0.980,0,33300,0,0,0,44372,0,0,0,26004,0,0,0,39674,0,0,0,53372,0,0,0,5762,0,0,0,1111014,0,0,,,,,1,86018,0,0,0,60276,0,0 +17-43094775-A-G,17,43094775,rs786201338,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Arg,p.Arg252Arg,c.756T>C,synonymous_variant,Likely benign,184217,,12,1460082,0.000008218716483046842,0,0,eas,0.00017351999999999995,10.5,,0.0200,0.0400,2.76,,,0,33310,0,0,0,44406,0,0,0,26012,0,0,12,39676,0,0,0,53380,0,0,0,5762,0,0,0,1111182,0,0,,,,,0,86072,0,0,0,60282,0,0 +17-43094776-C-G,17,43094776,rs80357138,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Pro,p.Arg252Pro,c.755G>C,missense_variant,,,,1,1459806,6.850225303910246e-7,0,0,,,18.1,0.560,0.0100,0.0200,0.459,0.0100,0.0400,0,33308,0,0,0,44378,0,0,0,26000,0,0,0,39678,0,0,0,53376,0,0,0,5758,0,0,1,1111016,0,0,,,,,0,86018,0,0,0,60274,0,0 +17-43094776-C-T,17,43094776,rs80357138,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252His,p.Arg252His,c.755G>A,missense_variant,Conflicting interpretations of pathogenicity,55689,,14,1459806,0.000009590315425474344,0,0,nfe,0.00000653,7.69,0.543,0.00,-0.0200,0.459,1.00,0.00,0,33308,0,0,1,44378,0,0,0,26000,0,0,0,39678,0,0,0,53376,0,0,0,5758,0,0,13,1111016,0,0,,,,,0,86018,0,0,0,60274,0,0 +17-43094777-G-A,17,43094777,rs273902786,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg252Cys,p.Arg252Cys,c.754C>T,missense_variant,Conflicting interpretations of pathogenicity,55688,,6,1459730,0.000004110349174162345,0,0,nfe,8.4e-7,25.4,0.516,0.00,-0.0300,3.27,0.00,0.200,0,33276,0,0,0,44310,0,0,0,25998,0,0,0,39662,0,0,1,53378,0,0,0,5758,0,0,4,1111074,0,0,,,,,0,86010,0,0,1,60264,0,0 +17-43094779-T-C,17,43094779,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys251Arg,p.Lys251Arg,c.752A>G,missense_variant,,,,1,833092,0.0000012003476206709464,0,0,,,24.1,0.468,0.00,-0.0700,1.68,0.120,0.973,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094781-C-T,17,43094781,rs762867923,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu250Glu,p.Glu250Glu,c.750G>A,synonymous_variant,Likely benign,427360,,1,152168,0.000006571683928289785,0,0,,,8.13,,0.00,-0.0400,3.41,,,0,41434,0,0,1,15276,0,0,0,3472,0,0,0,5194,0,0,0,10598,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4830,0,0,0,2094,0,0 +17-43094787-G-A,17,43094787,rs886037791,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Thr,p.Thr248Thr,c.744C>T,synonymous_variant,Likely benign,506303,,5,1460966,0.0000034223931289297628,0,0,sas,0.00000385,3.90,,0.00,-0.0100,0.115,,,0,33392,0,0,0,44528,0,0,0,26072,0,0,0,39688,0,0,0,53384,0,0,0,5762,0,0,3,1111666,0,0,,,,,2,86132,0,0,0,60342,0,0 +17-43094789-T-C,17,43094789,rs879255288,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Ala,p.Thr248Ala,c.742A>G,missense_variant,Conflicting interpretations of pathogenicity,531383,,1,627844,0.000001592752339753187,0,0,,,4.50,0.564,0.0300,0.0300,0.603,0.740,0.0480,0,17590,0,0,0,43506,0,0,0,20920,0,0,0,36062,0,0,0,53114,0,0,0,4140,0,0,0,349800,0,0,,,,,0,69676,0,0,1,33036,0,0 +17-43094789-T-G,17,43094789,rs879255288,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr248Pro,p.Thr248Pro,c.742A>C,missense_variant,Conflicting interpretations of pathogenicity,252390,,1,627844,0.000001592752339753187,0,0,,,7.65,0.575,0.00,-0.0400,0.603,0.440,0.0480,0,17590,0,0,0,43506,0,0,0,20920,0,0,0,36062,0,0,0,53114,0,0,0,4140,0,0,1,349800,0,0,,,,,0,69676,0,0,0,33036,0,0 +17-43094790-G-A,17,43094790,rs1597880263,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn247Asn,p.Asn247Asn,c.741C>T,synonymous_variant,Likely benign,827036,,3,1461026,0.000002053351548843073,0,0,nfe,7.200000000000001e-7,3.28,,0.00,-0.0300,0.244,,,0,33404,0,0,0,44516,0,0,0,26076,0,0,0,39684,0,0,0,53386,0,0,0,5760,0,0,3,1111716,0,0,,,,,0,86148,0,0,0,60336,0,0 +17-43094792-T-C,17,43094792,rs767720128,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn247Asp,p.Asn247Asp,c.739A>G,missense_variant,Likely benign,232600,,1,833102,0.0000012003332124997898,0,0,,,12.4,0.421,0.0700,0.0700,1.80,0.160,0.0120,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094793-C-G,17,43094793,rs768416164,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu246Phe,p.Leu246Phe,c.738G>C,missense_variant,Conflicting interpretations of pathogenicity,1758654,,1,627926,0.0000015925443443972698,0,0,,,6.48,0.510,0.0500,0.0300,0.858,0.280,0.996,0,17626,0,0,0,43548,0,0,0,20926,0,0,0,36056,0,0,0,53104,0,0,0,4142,0,0,1,349802,0,0,,,,,0,69678,0,0,0,33044,0,0 +17-43094795-A-G,17,43094795,rs28897675,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu246Leu,p.Leu246Leu,c.736T>C,synonymous_variant,Likely benign,482941,,2,1461064,0.000001368865429577349,0,0,nfe,2.999999999999999e-7,2.54,,0.00,0.0300,0.0710,,,0,33406,0,0,0,44536,0,0,0,26094,0,0,0,39686,0,0,0,53374,0,0,0,5762,0,0,2,1111734,0,0,,,,,0,86132,0,0,0,60340,0,0 +17-43094795-A-C,17,43094795,rs28897675,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu246Val,p.Leu246Val,c.736T>G,missense_variant,Benign,41835,,1141,1613334,0.0007072311127144163,0,0,nfe,0.00088361,3.94,0.555,0.00,0.0300,0.0710,0.300,0.981,10,74958,0,0,4,59808,0,0,1,29564,0,0,0,44874,0,0,4,63998,0,0,1,6056,0,0,1097,1179760,0,0,0,912,0,0,0,90952,0,0,24,62452,0,0 +17-43094797-T-A,17,43094797,rs80356865,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp245Val,p.Asp245Val,c.734A>T,missense_variant,Conflicting interpretations of pathogenicity,55682,,7,1461144,0.000004790766686924766,0,0,nfe,0.0000026200000000000003,22.9,0.621,0.00,-0.0500,1.90,0.0300,0.875,0,33408,0,0,0,44540,0,0,0,26102,0,0,0,39692,0,0,0,53386,0,0,0,5762,0,0,7,1111754,0,0,,,,,0,86148,0,0,0,60352,0,0 +17-43094798-C-A,17,43094798,rs147519994,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp245Tyr,p.Asp245Tyr,c.733G>T,missense_variant,Conflicting interpretations of pathogenicity,142867,,6,1613312,0.000003719057442081879,0,0,afr,0.000017460000000000002,22.8,0.558,0.00,-0.0800,5.00,0.00,0.933,4,74940,0,0,0,59842,0,0,0,29570,0,0,0,44878,0,0,0,63970,0,0,0,6054,0,0,1,1179760,0,0,0,912,0,0,0,90928,0,0,1,62458,0,0 +17-43094799-A-G,17,43094799,rs2054057742,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn244Asn,p.Asn244Asn,c.732T>C,synonymous_variant,Likely benign,1094207,,2,152130,0.000013146650890685597,0,0,,,1.79,,0.00,0.0700,0.281,,,1,41436,0,0,0,15252,0,0,0,3472,0,0,0,5196,0,0,0,10604,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,1,4822,0,0,0,2088,0,0 +17-43094802-A-G,17,43094802,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn243Asn,p.Asn243Asn,c.729T>C,synonymous_variant,,,,1,833098,0.0000012003389757267452,0,0,,,3.52,,0.00,0.0600,-0.0630,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43094802-A-C,17,43094802,rs730881467,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn243Lys,p.Asn243Lys,c.729T>G,missense_variant,Conflicting interpretations of pathogenicity,182126,,1,152162,0.000006571943060685322,0,0,,,15.2,0.480,0.0300,0.0900,-0.0630,,,0,41436,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10600,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43094805-A-G,17,43094805,rs2054058959,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser242Ser,p.Ser242Ser,c.726T>C,synonymous_variant,,,,1,152154,0.000006572288602337106,0,0,,,7.29,,0.00,0.0500,2.42,,,0,41426,0,0,0,15268,0,0,0,3468,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,1,4830,0,0,0,2084,0,0 +17-43094806-C-A,17,43094806,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser242Ile,p.Ser242Ile,c.725G>T,missense_variant,,,,2,833092,0.0000024006952413418927,0,0,nfe,4.4e-7,13.2,0.578,0.00,-0.0200,1.04,0.140,0.890,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761886,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094808-G-A,17,43094808,rs1379167990,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Pro,p.Pro241Pro,c.723C>T,synonymous_variant,Likely benign,2028072,,1,628296,0.0000015916065039408176,0,0,,,7.12,,0.00,-0.0600,1.64,,,0,17660,0,0,0,43622,0,0,0,20962,0,0,0,36054,0,0,0,53104,0,0,0,4146,0,0,0,349972,0,0,,,,,1,69714,0,0,0,33062,0,0 +17-43094809-G-A,17,43094809,rs80357351,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Leu,p.Pro241Leu,c.722C>T,missense_variant,Conflicting interpretations of pathogenicity,55679,,8,1461344,0.0000054744125955285,0,0,nfe,0.00000194,12.3,0.540,0.00,-0.0200,3.38,0.270,0.00,0,33444,0,0,0,44610,0,0,0,26108,0,0,0,39684,0,0,0,53370,0,0,0,5766,0,0,6,1111824,0,0,,,,,0,86172,0,0,2,60366,0,0 +17-43094809-G-T,17,43094809,rs80357351,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241His,p.Pro241His,c.722C>A,missense_variant,,,,1,1461344,6.843015744410625e-7,0,0,,,16.0,0.563,0.00,-0.0200,3.38,0.0700,0.0540,0,33444,0,0,0,44610,0,0,0,26108,0,0,0,39684,0,0,0,53370,0,0,0,5766,0,0,0,1111824,0,0,,,,,0,86172,0,0,1,60366,0,0 +17-43094810-G-A,17,43094810,rs1555593260,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro241Ser,p.Pro241Ser,c.721C>T,missense_variant,,,,1,833072,0.0000012003764380509728,0,0,,,0.131,0.563,0.00,0.0100,0.392,1.00,0.00,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761866,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094811-T-A,17,43094811,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln240His,p.Gln240His,c.720A>T,missense_variant,,,,1,628414,0.0000015913076411410312,0,0,,,1.28,0.533,0.00,-0.0200,-1.66,0.180,0.0180,0,17674,0,0,0,43642,0,0,0,20966,0,0,0,36058,0,0,0,53110,0,0,0,4144,0,0,1,350006,0,0,,,,,0,69740,0,0,0,33074,0,0 +17-43094814-A-G,17,43094814,rs56310439,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239His,p.His239His,c.717T>C,synonymous_variant,,,,2,628414,0.0000031826152822820624,0,0,nfe,9.5e-7,3.99,,0.0100,-0.0300,-0.0510,,,0,17674,0,0,0,43646,0,0,0,20972,0,0,0,36058,0,0,0,53110,0,0,0,4146,0,0,2,349994,0,0,,,,,0,69740,0,0,0,33074,0,0 +17-43094815-T-C,17,43094815,rs80357396,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239Arg,p.His239Arg,c.716A>G,missense_variant,Benign,55677,,5,1461476,0.0000034211988428137033,0,0,nfe,0.0000013199999999999999,0.156,0.600,0.00,0.0400,-0.660,0.950,0.0880,0,33456,0,0,0,44624,0,0,0,26120,0,0,0,39682,0,0,0,53378,0,0,0,5766,0,0,5,1111884,0,0,,,,,0,86196,0,0,0,60370,0,0 +17-43094815-T-A,17,43094815,rs80357396,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His239Leu,p.His239Leu,c.716A>T,missense_variant,Conflicting interpretations of pathogenicity,231422,,2,1461476,0.0000013684795371254813,0,0,nfe,2.999999999999999e-7,0.246,0.638,0.00,0.0100,-0.660,1.00,0.797,0,33456,0,0,0,44624,0,0,0,26120,0,0,0,39682,0,0,0,53378,0,0,0,5766,0,0,2,1111884,0,0,,,,,0,86196,0,0,0,60370,0,0 +17-43094816-G-A,17,43094816,rs1270749718,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.His239Tyr,p.His239Tyr,c.715C>T,missense_variant,Conflicting interpretations of pathogenicity,826868,,2,780354,0.000002562939383920631,0,0,,,22.0,0.551,0.0200,-0.130,5.55,0.210,0.879,2,59024,0,0,0,58894,0,0,0,24442,0,0,0,41246,0,0,0,63670,0,0,0,4462,0,0,0,417984,0,0,0,912,0,0,0,74552,0,0,0,35168,0,0 +17-43094820-T-G,17,43094820,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu237Asp,p.Glu237Asp,c.711A>C,missense_variant,,,,1,628386,0.0000015913785475806272,0,0,,,14.4,0.581,0.00,-0.0200,-0.0310,0.270,0.402,1,17680,0,0,0,43658,0,0,0,20968,0,0,0,36046,0,0,0,53084,0,0,0,4146,0,0,0,349990,0,0,,,,,0,69736,0,0,0,33078,0,0 +17-43094823-A-T,17,43094823,rs2154496753,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr236Thr,p.Thr236Thr,c.708T>A,synonymous_variant,,,,1,628344,0.0000015914849190889067,0,0,,,6.13,,0.00,0.0100,0.950,,,0,17674,0,0,0,43646,0,0,0,20960,0,0,0,36046,0,0,0,53078,0,0,0,4146,0,0,1,349992,0,0,,,,,0,69730,0,0,0,33072,0,0 +17-43094824-G-A,17,43094824,rs80356990,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr236Ile,p.Thr236Ile,c.707C>T,missense_variant,Conflicting interpretations of pathogenicity,665165,,1,151984,0.000006579639962101274,0,0,,,0.00600,0.584,0.00,-0.0100,-1.31,,,1,41354,0,0,0,15252,0,0,0,3470,0,0,0,5192,0,0,0,10568,0,0,0,316,0,0,0,68006,0,0,0,910,0,0,0,4822,0,0,0,2094,0,0 +17-43094826-A-G,17,43094826,rs1165432483,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Asn,p.Asn235Asn,c.705T>C,synonymous_variant,Likely benign,481425,,1,628384,0.0000015913836125681113,0,0,,,2.26,,0.00,0.0100,0.442,,,0,17688,0,0,0,43662,0,0,0,20972,0,0,0,36042,0,0,0,53066,0,0,0,4146,0,0,1,349986,0,0,,,,,0,69746,0,0,0,33076,0,0 +17-43094827-T-C,17,43094827,rs1555593283,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Ser,p.Asn235Ser,c.704A>G,missense_variant,Conflicting interpretations of pathogenicity,531207,,1,833096,0.0000012003418573609765,0,0,,,7.75,0.433,0.00,0.0300,2.92,0.400,0.311,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43094828-TTG-T,17,43094828,,TTG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr234LysfsTer3,p.Thr234LysfsTer3,c.701_702del,frameshift_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,21.8,,0.0400,-0.230,0.852,,,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 +17-43094828-T-G,17,43094828,rs2154497564,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235His,p.Asn235His,c.703A>C,missense_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,18.8,0.411,0.00,-0.0200,0.852,0.0100,0.972,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 +17-43094828-T-A,17,43094828,rs2154497564,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn235Tyr,p.Asn235Tyr,c.703A>T,missense_variant,,,,1,1461476,6.842397685627406e-7,0,0,,,20.7,0.492,0.00,-0.0300,0.852,0.0100,0.972,0,33474,0,0,0,44638,0,0,0,26122,0,0,0,39670,0,0,0,53338,0,0,0,5768,0,0,1,1111876,0,0,,,,,0,86212,0,0,0,60378,0,0 +17-43094830-G-T,17,43094830,rs1555593290,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr234Lys,p.Thr234Lys,c.701C>A,missense_variant,Conflicting interpretations of pathogenicity,628440,,1,151928,0.0000065820651887736295,0,0,,,16.6,0.547,0.00,-0.0300,2.80,0.510,0.982,0,41328,0,0,0,15252,0,0,0,3470,0,0,0,5194,0,0,0,10556,0,0,0,316,0,0,0,67998,0,0,0,912,0,0,0,4810,0,0,1,2092,0,0 +17-43094832-T-C,17,43094832,rs786202162,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val233Val,p.Val233Val,c.699A>G,synonymous_variant,Likely benign,185425,,11,1613396,0.000006817916990001215,0,0,amr,0.00006623999999999998,3.69,,0.00,0.0200,0.705,,,0,74866,0,0,8,59902,0,0,0,29590,0,0,0,44852,0,0,0,63930,0,0,0,6084,0,0,3,1179808,0,0,0,912,0,0,0,90998,0,0,0,62454,0,0 +17-43094835-A-G,17,43094835,rs1057523563,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp232Asp,p.Asp232Asp,c.696T>C,synonymous_variant,Likely benign,389874,,1,833098,0.0000012003389757267452,0,0,,,1.50,,0.00,0.0200,0.444,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43094836-T-A,17,43094836,rs398122708,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp232Val,p.Asp232Val,c.695A>T,missense_variant,Conflicting interpretations of pathogenicity,91664,,6,1461100,0.000004106495106426665,0,0,nfe,0.00000194,22.4,0.536,0.0200,-0.120,0.760,0.0100,0.556,0,33470,0,0,0,44600,0,0,0,26108,0,0,0,39656,0,0,0,53292,0,0,0,5768,0,0,6,1111688,0,0,,,,,0,86158,0,0,0,60360,0,0 +17-43094837-C-T,17,43094837,rs55975699,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp232Asn,p.Asp232Asn,c.694G>A,missense_variant,Conflicting interpretations of pathogenicity,55672,,32,1612896,0.000019840088883598198,0,0,afr,0.00031052000000000006,18.9,0.439,0.0100,-0.100,1.94,0.190,0.690,32,74814,0,0,0,59806,0,0,0,29572,0,0,0,44844,0,0,0,63880,0,0,0,6080,0,0,0,1179596,0,0,0,912,0,0,0,90942,0,0,0,62450,0,0 +17-43094838-C-T,17,43094838,rs62625298,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr231Thr,p.Thr231Thr,c.693G>A,synonymous_variant,Likely benign,55670,,176,1612652,0.00010913699917899212,0,0,nfe,0.00011566,4.91,,0.0500,-0.160,1.53,,,2,74750,0,0,5,59788,0,0,0,29574,0,0,2,44828,0,0,3,63842,0,0,4,6082,0,0,157,1179506,0,0,0,912,0,0,0,90924,0,0,3,62446,0,0 +17-43094839-G-T,17,43094839,rs80357001,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr231Lys,p.Thr231Lys,c.692C>A,missense_variant,,,,1,1460654,6.846248324380723e-7,0,0,,,3.24,0.516,0.0100,-0.0300,0.254,1.00,0.00,0,33458,0,0,0,44536,0,0,0,26098,0,0,0,39644,0,0,0,53232,0,0,0,5768,0,0,1,1111446,0,0,,,,,0,86120,0,0,0,60352,0,0 +17-43094839-G-A,17,43094839,rs80357001,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr231Met,p.Thr231Met,c.692C>T,missense_variant,Conflicting interpretations of pathogenicity,55669,,86,1612488,0.00005333373023551183,0,0,sas,0.00014525,18.6,0.545,0.0100,-0.0400,0.254,0.0100,0.118,7,74760,0,0,2,59768,0,0,0,29564,0,0,1,44832,0,0,1,63774,0,0,0,6084,0,0,50,1179428,0,0,0,912,0,0,20,90922,0,0,5,62444,0,0 +17-43094848-A-T,17,43094848,rs191872612,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Phe228Tyr,p.Phe228Tyr,c.683T>A,missense_variant,Conflicting interpretations of pathogenicity,186506,,2,779306,0.0000025663859895856055,0,0,,,23.3,0.532,0.00,0.0100,2.10,0.00,0.522,2,59218,0,0,0,58754,0,0,0,24388,0,0,0,41200,0,0,0,63576,0,0,0,4442,0,0,0,417278,0,0,0,912,0,0,0,74408,0,0,0,35130,0,0 +17-43094850-T-G,17,43094850,rs2054066333,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu227Asp,p.Glu227Asp,c.681A>C,missense_variant,,,,1,626550,0.0000015960418162955869,0,0,,,11.1,0.569,0.00,0.00,0.868,0.240,0.0770,0,17660,0,0,0,43430,0,0,0,20926,0,0,0,36006,0,0,0,52896,0,0,0,4144,0,0,0,348970,0,0,,,,,1,69522,0,0,0,32996,0,0 +17-43094854-C-T,17,43094854,rs1376262238,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys226Tyr,p.Cys226Tyr,c.677G>A,missense_variant,Conflicting interpretations of pathogenicity,441363,,4,1458230,0.000002743051507649685,0,0,nfe,8.4e-7,22.2,0.583,0.0100,0.0100,1.60,0.0800,0.804,0,33410,0,0,0,44188,0,0,0,26060,0,0,0,39586,0,0,0,53064,0,0,0,5766,0,0,4,1110066,0,0,,,,,0,85838,0,0,0,60252,0,0 +17-43094854-C-G,17,43094854,rs1376262238,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys226Ser,p.Cys226Ser,c.677G>C,missense_variant,Conflicting interpretations of pathogenicity,826617,,1,1458230,6.857628769124212e-7,0,0,,,23.0,0.560,0.00,0.0100,1.60,0.00,0.164,0,33410,0,0,0,44188,0,0,0,26060,0,0,0,39586,0,0,0,53064,0,0,0,5766,0,0,0,1110066,0,0,,,,,1,85838,0,0,0,60252,0,0 +17-43094856-A-C,17,43094856,rs1555593332,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala225Ala,p.Ala225Ala,c.675T>G,synonymous_variant,Likely benign,491184,,1,832970,0.0000012005234282147015,0,0,,,8.90,,0.00,0.0100,1.04,,,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,761776,0,0,,,,,0,16460,0,0,1,27294,0,0 +17-43094859-A-C,17,43094859,rs1064794486,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Ala,p.Ala224Ala,c.672T>G,splice_region_variant,Conflicting interpretations of pathogenicity,420455,,7,1455940,0.0000048078904350454,0,0,nfe,0.0000026300000000000002,13.8,,0.0200,-0.0300,1.80,,,0,33336,0,0,0,43934,0,0,0,26026,0,0,0,39510,0,0,0,52886,0,0,0,5760,0,0,7,1108702,0,0,,,,,0,85628,0,0,0,60158,0,0 +17-43094862-T-G,17,43094862,rs80358108,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-2A>C,,c.671-2A>C,splice_acceptor_variant,Pathogenic/Likely pathogenic,55663,,1,621834,0.0000016081462255199941,0,0,,,33.0,,0.980,-0.870,6.36,,,1,17506,0,0,0,42752,0,0,0,20846,0,0,0,35856,0,0,0,52480,0,0,0,4136,0,0,0,346356,0,0,,,,,0,69088,0,0,0,32814,0,0 +17-43094862-T-A,17,43094862,rs80358108,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-2A>T,,c.671-2A>T,splice_acceptor_variant,Pathogenic,267618,,1,621834,0.0000016081462255199941,0,0,,,33.0,,0.980,-0.870,6.36,,,0,17506,0,0,0,42752,0,0,0,20846,0,0,0,35856,0,0,0,52480,0,0,0,4136,0,0,1,346356,0,0,,,,,0,69088,0,0,0,32814,0,0 +17-43094866-A-C,17,43094866,rs878854964,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-6T>G,,c.671-6T>G,splice_region_variant,Uncertain significance,240829,,2,617200,0.000003240440699935191,0,0,eas,0.0000093,17.5,,0.240,-0.570,1.94,,,0,17368,0,0,0,42090,0,0,0,20790,0,0,2,35636,0,0,0,52098,0,0,0,4124,0,0,0,343808,0,0,,,,,0,68640,0,0,0,32646,0,0 +17-43094868-T-C,17,43094868,rs80358144,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-8A>G,,c.671-8A>G,splice_region_variant,Conflicting interpretations of pathogenicity,136539,,85,1601710,0.00005306828327225278,0,0,eas,0.0015840899999999992,1.64,,0.00,-0.0200,-0.0680,,,0,74620,0,0,0,58302,0,0,0,29412,0,0,85,44434,0,0,0,62964,0,0,0,6036,0,0,0,1173082,0,0,0,912,0,0,0,89910,0,0,0,62038,0,0 +17-43094870-T-C,17,43094870,rs398122707,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-10A>G,,c.671-10A>G,intron_variant,Conflicting interpretations of pathogenicity,91662,,3,617094,0.000004861495979542825,0,0,nfe,9.699999999999998e-7,1.60,,0.00,0.0100,-2.85,,,0,17366,0,0,0,42066,0,0,0,20798,0,0,0,35628,0,0,0,52084,0,0,0,4124,0,0,2,343752,0,0,,,,,1,68630,0,0,0,32646,0,0 +17-43094871-AC-A,17,43094871,rs273902781,AC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-12del,,c.671-12del,intron_variant,Benign/Likely benign,96955,,251,1598088,0.00015706268991444778,4,0,sas,0.0024428900000000005,0.179,,0.00,0.0400,3.65,,,1,74574,0,0,1,57794,0,0,0,29374,0,0,0,44286,0,0,0,62704,0,0,0,6036,0,0,1,1170960,0,0,0,912,0,0,244,89570,4,0,4,61878,0,0 +17-43094871-A-G,17,43094871,rs1597880676,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-11T>C,,c.671-11T>C,intron_variant,Likely benign,760548,,14,1445750,0.000009683555248141104,0,0,nfe,0.00000737,17.1,,0.0400,-0.150,3.65,,,0,33006,0,0,0,42494,0,0,0,25904,0,0,0,39094,0,0,0,52076,0,0,0,5742,0,0,14,1102926,0,0,,,,,0,84744,0,0,0,59764,0,0 +17-43094871-A-C,17,43094871,rs1597880676,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-11T>G,,c.671-11T>G,intron_variant,Uncertain significance,1692976,,1,1445750,6.916825177243646e-7,0,0,,,18.9,,0.0700,-0.220,3.65,,,0,33006,0,0,0,42494,0,0,0,25904,0,0,0,39094,0,0,0,52076,0,0,0,5742,0,0,1,1102926,0,0,,,,,0,84744,0,0,0,59764,0,0 +17-43094872-C-A,17,43094872,rs781393191,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-12G>T,,c.671-12G>T,intron_variant,Conflicting interpretations of pathogenicity,516873,,1,612958,0.0000016314331487638631,0,0,,,0.465,,0.00,0.0200,-0.0670,,,0,17242,0,0,0,41408,0,0,0,20742,0,0,0,35440,0,0,0,51760,0,0,0,4118,0,0,1,341848,0,0,,,,,0,67888,0,0,0,32512,0,0 +17-43094872-CAAA-C,17,43094872,,CAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-15_671-13del,,c.671-15_671-13del,intron_variant,,,,1,612958,0.0000016314331487638631,0,0,,,14.2,,0.0500,-0.210,-0.0670,,,0,17242,0,0,0,41408,0,0,0,20742,0,0,0,35440,0,0,0,51760,0,0,0,4118,0,0,0,341848,0,0,,,,,1,67888,0,0,0,32512,0,0 +17-43094875-AAAT-A,17,43094875,rs398122354,AAAT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-18_671-16del,,c.671-18_671-16del,intron_variant,Conflicting interpretations of pathogenicity,125907,,2,1445026,0.0000013840581415144087,0,0,nfe,2.999999999999999e-7,11.1,,0.00,-0.0200,1.40,,,0,32990,0,0,0,42364,0,0,0,25882,0,0,0,39072,0,0,0,51980,0,0,0,5738,0,0,2,1102614,0,0,,,,,0,84632,0,0,0,59754,0,0 +17-43094875-A-T,17,43094875,rs80358058,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-15T>A,,c.671-15T>A,intron_variant,Conflicting interpretations of pathogenicity,125906,,3,1597178,0.0000018783128743321032,0,0,nfe,6.800000000000001e-7,14.9,,0.0400,-0.180,1.40,,,0,74406,0,0,0,57630,0,0,0,29354,0,0,0,44272,0,0,0,62592,0,0,0,6054,0,0,3,1170652,0,0,0,912,0,0,0,89462,0,0,0,61844,0,0 +17-43094878-T-A,17,43094878,rs746016001,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-18A>T,,c.671-18A>T,intron_variant,Likely benign,462687,,1,609482,0.000001640737544340932,0,0,,,5.89,,0.00,0.0200,-0.303,,,0,17134,0,0,1,40858,0,0,0,20688,0,0,0,35286,0,0,0,51326,0,0,0,4116,0,0,0,339862,0,0,,,,,0,67852,0,0,0,32360,0,0 +17-43094880-A-G,17,43094880,rs1392175166,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-20T>C,,c.671-20T>C,intron_variant,,,,1,152180,0.000006571165724799579,0,0,,,17.1,,0.0100,-0.0500,0.630,,,0,41436,0,0,0,15280,0,0,0,3472,0,0,0,5198,0,0,0,10626,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4818,0,0,0,2092,0,0 +17-43094881-C-A,17,43094881,rs770132088,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-21G>T,,c.671-21G>T,intron_variant,,,,1,604424,0.0000016544677246436277,0,0,,,0.322,,0.00,0.0200,-0.221,,,0,16954,0,0,1,39974,0,0,0,20624,0,0,0,35050,0,0,0,50802,0,0,0,4102,0,0,0,337350,0,0,,,,,0,67420,0,0,0,32148,0,0 +17-43094888-C-T,17,43094888,rs577740757,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-28G>A,,c.671-28G>A,intron_variant,,,,1,152154,0.000006572288602337106,0,0,,,3.35,,0.00,0.0200,0.284,,,1,41508,0,0,0,15284,0,0,0,3470,0,0,0,5186,0,0,0,10572,0,0,0,294,0,0,0,68008,0,0,0,912,0,0,0,4808,0,0,0,2112,0,0 +17-43094890-C-A,17,43094890,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-30G>T,,c.671-30G>T,intron_variant,,,,1,596146,0.0000016774414321323971,0,0,,,10.5,,0.0100,0.00,1.85,,,0,16694,0,0,0,38784,0,0,0,20512,0,0,0,34516,0,0,0,49700,0,0,0,4086,0,0,0,333354,0,0,,,,,1,66660,0,0,0,31840,0,0 +17-43094891-A-C,17,43094891,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-31T>G,,c.671-31T>G,intron_variant,,,,1,823102,0.0000012149162558224861,0,0,,,13.6,,0.0500,-0.180,1.76,,,0,15566,0,0,0,962,0,0,0,5104,0,0,0,3564,0,0,0,272,0,0,0,1608,0,0,0,752816,0,0,,,,,1,16232,0,0,0,26978,0,0 +17-43094899-A-T,17,43094899,rs2154501992,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-39T>A,,c.671-39T>A,intron_variant,,,,1,581416,0.000001719938907769996,0,0,,,7.46,,0.00,0.00,2.33,,,0,16272,0,0,0,36772,0,0,0,20348,0,0,0,33568,0,0,0,47318,0,0,0,4004,0,0,1,326338,0,0,,,,,0,65498,0,0,0,31298,0,0 +17-43094900-A-C,17,43094900,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-40T>G,,c.671-40T>G,intron_variant,,,,1,581576,0.0000017194657276091174,0,0,,,9.39,,0.00,-0.0100,2.89,,,0,16274,0,0,0,36774,0,0,0,20354,0,0,1,33570,0,0,0,47372,0,0,0,4006,0,0,0,326408,0,0,,,,,0,65522,0,0,0,31296,0,0 +17-43094901-T-C,17,43094901,rs2054070372,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-41A>G,,c.671-41A>G,intron_variant,,,,5,1393398,0.000003588350205756001,0,0,nfe,0.0000013700000000000002,8.22,,0.0100,-0.0100,1.07,,,0,31542,0,0,0,37630,0,0,0,25394,0,0,0,37080,0,0,0,47566,0,0,0,5598,0,0,5,1069222,0,0,,,,,0,81440,0,0,0,57926,0,0 +17-43094902-T-C,17,43094902,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-42A>G,,c.671-42A>G,intron_variant,,,,2,1391800,0.0000014369880729989942,0,0,nfe,3.1e-7,5.29,,0.00,-0.0100,0.714,,,0,31494,0,0,0,37532,0,0,0,25388,0,0,0,36998,0,0,0,47350,0,0,0,5588,0,0,2,1068226,0,0,,,,,0,81318,0,0,0,57906,0,0 +17-43094902-T-G,17,43094902,rs1456087761,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-42A>C,,c.671-42A>C,intron_variant,,,,3,1391800,0.0000021554821094984913,0,0,nfe,3.1e-7,5.22,,0.00,-0.0100,0.714,,,0,31494,0,0,0,37532,0,0,0,25388,0,0,0,36998,0,0,0,47350,0,0,1,5588,0,0,2,1068226,0,0,,,,,0,81318,0,0,0,57906,0,0 +17-43094903-G-A,17,43094903,rs2154502075,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-43C>T,,c.671-43C>T,intron_variant,,,,2,1386400,0.0000014425851125216388,0,0,nfe,3.1e-7,2.12,,0.00,0.00,1.06,,,0,31352,0,0,0,37362,0,0,0,25348,0,0,0,36890,0,0,0,46972,0,0,0,5562,0,0,2,1064092,0,0,,,,,0,81082,0,0,0,57740,0,0 +17-43094903-G-T,17,43094903,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-43C>A,,c.671-43C>A,intron_variant,,,,2,1386400,0.0000014425851125216388,0,0,nfe,3.1e-7,1.71,,0.00,0.00,1.06,,,0,31352,0,0,0,37362,0,0,0,25348,0,0,0,36890,0,0,0,46972,0,0,0,5562,0,0,2,1064092,0,0,,,,,0,81082,0,0,0,57740,0,0 +17-43094905-C-A,17,43094905,rs1184958055,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-45G>T,,c.671-45G>T,intron_variant,,,,2,576034,0.000003472017276757969,0,0,sas,0.00000512,0.164,,0.00,0.00,-0.196,,,0,16060,0,0,0,36042,0,0,0,20272,0,0,0,33252,0,0,0,46326,0,0,0,3950,0,0,0,324226,0,0,,,,,2,64796,0,0,0,31110,0,0 +17-43094906-A-G,17,43094906,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-46T>C,,c.671-46T>C,intron_variant,,,,1,575430,0.0000017378308395460786,0,0,,,3.28,,0.00,-0.0100,-0.462,,,0,16114,0,0,0,36080,0,0,0,20282,0,0,0,33146,0,0,1,46082,0,0,0,3936,0,0,0,323734,0,0,,,,,0,64958,0,0,0,31098,0,0 +17-43094907-T-A,17,43094907,rs1237524173,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-47A>T,,c.671-47A>T,intron_variant,,,,1,575126,0.0000017387494218658172,0,0,,,0.815,,0.00,-0.0100,-1.05,,,0,16058,0,0,1,35970,0,0,0,20258,0,0,0,33148,0,0,0,46090,0,0,0,3928,0,0,0,323686,0,0,,,,,0,64900,0,0,0,31088,0,0 +17-43094907-T-C,17,43094907,rs1237524173,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-47A>G,,c.671-47A>G,intron_variant,,,,2,575126,0.0000034774988437316343,0,0,,,1.32,,0.00,-0.0100,-1.05,,,0,16058,0,0,0,35970,0,0,0,20258,0,0,0,33148,0,0,0,46090,0,0,0,3928,0,0,0,323686,0,0,,,,,1,64900,0,0,1,31088,0,0 +17-43094908-T-TA,17,43094908,rs273902784,T,TA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49dup,,c.671-49dup,intron_variant,Likely benign,1697606,,8,1515576,0.00000527852116950915,0,0,nfe,0.00000309,0.416,,0.00,-0.0200,0.0520,,,0,72216,0,0,0,51918,0,0,0,28674,0,0,0,41674,0,0,0,56608,0,0,0,5776,0,0,8,1113704,0,0,0,912,0,0,0,85072,0,0,0,59022,0,0 +17-43094908-TAAAA-T,17,43094908,,TAAAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-52_671-49del,,c.671-52_671-49del,intron_variant,,,,1,1363502,7.334055982316124e-7,0,0,,,7.68,,0.0100,-0.0300,0.0520,,,0,30816,0,0,0,36672,0,0,0,25202,0,0,0,36476,0,0,0,46004,0,0,0,5460,0,0,1,1045682,0,0,,,,,0,80256,0,0,0,56934,0,0 +17-43094908-TA-T,17,43094908,rs273902784,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49del,,c.671-49del,intron_variant,Uncertain significance,125910,,3,1515578,0.0000019794428264332156,0,0,,,0.196,,0.0100,0.0200,0.0520,,,0,72216,0,0,1,51918,0,0,0,28674,0,0,0,41674,0,0,0,56608,0,0,0,5776,0,0,2,1113706,0,0,0,912,0,0,0,85072,0,0,0,59022,0,0 +17-43094909-A-T,17,43094909,rs1161378345,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.671-49T>A,,c.671-49T>A,intron_variant,Likely benign,1275842,,6,724490,0.000008281687807975265,0,0,nfe,0.000006519999999999999,0.963,,0.00,0.00,0.517,,,0,57484,0,0,0,51034,0,0,0,23714,0,0,0,38166,0,0,0,55890,0,0,0,4210,0,0,6,390578,0,0,0,912,0,0,0,69420,0,0,0,33082,0,0 +17-43094918-C-T,17,43094918,rs1161575164,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-58G>A,,c.671-58G>A,intron_variant,,,,5,1305676,0.000003829433948391484,0,0,nfe,0.0000014700000000000001,0.588,,0.00,-0.0100,-2.45,,,0,29608,0,0,0,35838,0,0,0,24740,0,0,0,35648,0,0,0,42292,0,0,0,5062,0,0,5,999204,0,0,,,,,0,78268,0,0,0,55016,0,0 +17-43094919-A-T,17,43094919,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-59T>A,,c.671-59T>A,intron_variant,,,,1,743676,0.0000013446716043007976,0,0,,,5.71,,0.00,0.0100,0.0430,,,0,13784,0,0,0,872,0,0,0,4652,0,0,0,3218,0,0,0,250,0,0,0,1474,0,0,0,680478,0,0,,,,,0,14610,0,0,1,24338,0,0 +17-43094920-T-C,17,43094920,rs2054071313,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-60A>G,,c.671-60A>G,intron_variant,,,,1,152146,0.0000065726341803267915,0,0,,,0.273,,0.00,0.00,-0.217,,,1,41428,0,0,0,15262,0,0,0,3472,0,0,0,5194,0,0,0,10624,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43094920-T-A,17,43094920,rs2054071313,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-60A>T,,c.671-60A>T,intron_variant,,,,1,562734,0.000001777038529749402,0,0,,,0.207,,0.00,0.00,-0.217,,,0,15858,0,0,0,35000,0,0,0,20106,0,0,0,32444,0,0,0,42074,0,0,0,3594,0,0,1,319244,0,0,,,,,0,63680,0,0,0,30734,0,0 +17-43094921-A-G,17,43094921,rs2154502486,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-61T>C,,c.671-61T>C,intron_variant,,,,2,1299344,0.0000015392382617690157,0,0,sas,0.00000426,5.25,,0.00,-0.0200,0.631,,,0,29436,0,0,0,35650,0,0,0,24684,0,0,0,35554,0,0,0,41668,0,0,0,4966,0,0,0,994618,0,0,,,,,2,77930,0,0,0,54838,0,0 +17-43094922-C-G,17,43094922,rs2154502522,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-62G>C,,c.671-62G>C,intron_variant,,,,1,1293576,7.730508296381504e-7,0,0,,,0.478,,0.00,0.00,0.239,,,0,29314,0,0,0,35510,0,0,0,24618,0,0,0,35454,0,0,0,40854,0,0,0,4858,0,0,1,990736,0,0,,,,,0,77560,0,0,0,54672,0,0 +17-43094924-T-C,17,43094924,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-64A>G,,c.671-64A>G,intron_variant,,,,2,1292248,0.0000015476905361819094,0,0,,,6.47,,0.00,-0.0100,0.427,,,0,29312,0,0,0,35536,0,0,2,24618,0,0,0,35440,0,0,0,40818,0,0,0,4834,0,0,0,989468,0,0,,,,,0,77574,0,0,0,54648,0,0 +17-43094925-C-T,17,43094925,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-65G>A,,c.671-65G>A,intron_variant,,,,1,1292866,7.7347536403618e-7,0,0,,,2.31,,0.00,0.0100,0.479,,,0,29294,0,0,0,35538,0,0,0,24616,0,0,0,35438,0,0,0,40808,0,0,0,4856,0,0,1,990104,0,0,,,,,0,77560,0,0,0,54652,0,0 +17-43094927-T-G,17,43094927,rs1417490516,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-67A>C,,c.671-67A>C,intron_variant,,,,1,152174,0.0000065714248163286764,0,0,,,5.34,,0.00,-0.0100,0.371,,,0,41436,0,0,0,15268,0,0,0,3470,0,0,0,5200,0,0,0,10620,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43094930-A-G,17,43094930,rs2054071806,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-70T>C,,c.671-70T>C,intron_variant,,,,3,1267616,0.0000023666473127508647,0,0,nfe,3.399999999999999e-7,12.1,,0.00,-0.0200,0.569,,,0,28596,0,0,0,34636,0,0,0,24342,0,0,0,35256,0,0,0,39460,0,0,0,4570,0,0,2,970546,0,0,,,,,0,76350,0,0,1,53860,0,0 +17-43094931-C-A,17,43094931,rs2054071934,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-71G>T,,c.671-71G>T,intron_variant,,,,2,152106,0.000013148725231088847,0,0,afr,0.00000801,6.66,,0.00,0.0100,0.343,,,2,41388,0,0,0,15258,0,0,0,3472,0,0,0,5202,0,0,0,10608,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43094931-C-T,17,43094931,rs2054071934,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-71G>A,,c.671-71G>A,intron_variant,,,,1,1266408,7.896349359763994e-7,0,0,,,7.27,,0.00,0.00,0.343,,,0,28598,0,0,0,34664,0,0,0,24328,0,0,0,35252,0,0,0,39278,0,0,0,4556,0,0,1,969694,0,0,,,,,0,76262,0,0,0,53776,0,0 +17-43094932-C-T,17,43094932,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-72G>A,,c.671-72G>A,intron_variant,,,,2,710540,0.0000028147606046105777,0,0,nfe,5.1e-7,9.40,,0.00,0.0100,0.955,,,0,13072,0,0,0,826,0,0,0,4428,0,0,0,3056,0,0,0,236,0,0,0,1408,0,0,2,650358,0,0,,,,,0,13890,0,0,0,23266,0,0 +17-43094933-T-C,17,43094933,rs1245635145,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.671-73A>G,,c.671-73A>G,intron_variant,,,,2,551506,0.000003626433801264175,0,0,nfe,0.00000105,10.1,,0.00,0.00,-0.00600,,,0,15444,0,0,0,33740,0,0,0,19832,0,0,0,32170,0,0,0,38562,0,0,0,3090,0,0,2,316106,0,0,,,,,0,62166,0,0,0,30396,0,0 +17-43094933-T-G,17,43094933,rs1245635145,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.671-73A>C,,c.671-73A>C,intron_variant,,,,1,152158,0.000006572115826969334,0,0,,,9.50,,0.00,-0.0100,-0.00600,,,0,41432,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43095771-G-A,17,43095771,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+75C>T,,c.670+75C>T,intron_variant,,,,1,1096700,9.118263882556762e-7,0,0,,,18.4,,0.00,0.00,3.35,,,0,25908,0,0,0,37288,0,0,0,23458,0,0,0,36174,0,0,0,50508,0,0,0,5086,0,0,1,795448,0,0,,,,,0,74798,0,0,0,48032,0,0 +17-43095771-G-T,17,43095771,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+75C>A,,c.670+75C>A,intron_variant,,,,1,1096698,9.118280511134333e-7,0,0,,,18.1,,0.00,0.00,3.35,,,0,25908,0,0,0,37288,0,0,0,23458,0,0,0,36174,0,0,0,50508,0,0,0,5086,0,0,1,795446,0,0,,,,,0,74798,0,0,0,48032,0,0 +17-43095772-A-G,17,43095772,rs1258494237,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+74T>C,,c.670+74T>C,intron_variant,,,,3,1251702,0.000002396736603440755,0,0,nfe,9.199999999999999e-7,19.1,,0.00,-0.0200,2.21,,,0,67452,0,0,0,52690,0,0,0,26948,0,0,0,41462,0,0,0,61242,0,0,0,5412,0,0,3,865630,0,0,0,912,0,0,0,79774,0,0,0,50180,0,0 +17-43095776-A-C,17,43095776,rs2054105037,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.670+70T>G,,c.670+70T>G,intron_variant,,,,1,152178,0.000006571252086372537,0,0,,,15.6,,0.00,0.00,1.25,,,1,41426,0,0,0,15282,0,0,0,3470,0,0,0,5194,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43095778-C-T,17,43095778,rs2154512984,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+68G>A,,c.670+68G>A,intron_variant,,,,1,589722,0.0000016957142518000006,0,0,,,12.2,,0.0100,0.00,0.674,,,0,16876,0,0,0,37726,0,0,0,20362,0,0,1,34470,0,0,0,50926,0,0,0,4080,0,0,0,328270,0,0,,,,,0,65466,0,0,0,31546,0,0 +17-43095780-AATTAC-A,17,43095780,rs1180536178,AATTAC,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.670+61_670+65del,,c.670+61_670+65del,intron_variant,,,,2,152142,0.000013145613965900278,0,0,afr,0.000008,13.6,,0.00,-0.0300,0.0820,,,2,41432,0,0,0,15260,0,0,0,3470,0,0,0,5198,0,0,0,10608,0,0,0,316,0,0,0,68028,0,0,0,908,0,0,0,4830,0,0,0,2092,0,0 +17-43095780-A-G,17,43095780,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+66T>C,,c.670+66T>C,intron_variant,,,,1,1150160,8.694442512346109e-7,0,0,,,14.0,,0.00,-0.0300,0.0820,,,0,27076,0,0,0,38736,0,0,0,23836,0,0,0,37112,0,0,0,51274,0,0,0,5188,0,0,0,840570,0,0,,,,,0,76572,0,0,1,49796,0,0 +17-43095781-A-T,17,43095781,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+65T>A,,c.670+65T>A,intron_variant,,,,1,573150,0.0000017447439588240426,0,0,,,12.9,,0.00,-0.0100,0.126,,,0,10400,0,0,0,636,0,0,0,3542,0,0,0,2468,0,0,0,200,0,0,0,1132,0,0,1,524950,0,0,,,,,0,11170,0,0,0,18652,0,0 +17-43095784-A-C,17,43095784,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+62T>G,,c.670+62T>G,intron_variant,,,,1,1164058,8.590637236288913e-7,0,0,,,16.1,,0.00,-0.0500,1.42,,,0,27352,0,0,0,39588,0,0,0,23970,0,0,0,37400,0,0,0,51598,0,0,0,5194,0,0,1,851280,0,0,,,,,0,77330,0,0,0,50346,0,0 +17-43095784-A-G,17,43095784,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+62T>C,,c.670+62T>C,intron_variant,,,,1,1164058,8.590637236288913e-7,0,0,,,16.3,,0.00,-0.0400,1.42,,,0,27352,0,0,0,39588,0,0,0,23970,0,0,0,37400,0,0,1,51598,0,0,0,5194,0,0,0,851280,0,0,,,,,0,77330,0,0,0,50346,0,0 +17-43095785-C-T,17,43095785,rs2154513023,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+61G>A,,c.670+61G>A,intron_variant,,,,1,586796,0.0000017041697625750686,0,0,,,8.16,,0.0100,-0.0200,-0.143,,,0,10636,0,0,0,664,0,0,0,3666,0,0,0,2536,0,0,0,204,0,0,0,1152,0,0,1,537310,0,0,,,,,0,11428,0,0,0,19200,0,0 +17-43095786-A-G,17,43095786,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+60T>C,,c.670+60T>C,intron_variant,,,,3,600452,0.000004996236168752873,0,0,nfe,0.00000239,13.6,,0.00,-0.0200,0.188,,,0,17206,0,0,0,39452,0,0,0,20468,0,0,0,35170,0,0,0,51594,0,0,0,4094,0,0,3,333942,0,0,,,,,0,66570,0,0,0,31956,0,0 +17-43095787-G-A,17,43095787,rs2154513042,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+59C>T,,c.670+59C>T,intron_variant,,,,4,1203106,0.00000332472782946806,0,0,,,12.1,,0.0100,0.00,0.907,,,1,28196,0,0,0,40320,0,0,0,24234,0,0,0,37780,0,0,0,51842,0,0,0,5280,0,0,0,885354,0,0,,,,,1,78414,0,0,2,51686,0,0 +17-43095788-TA-T,17,43095788,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+57del,,c.670+57del,intron_variant,,,,1,1206324,8.289646894200894e-7,0,0,,,4.96,,0.00,-0.0200,-0.382,,,0,28250,0,0,1,40498,0,0,0,24258,0,0,0,37886,0,0,0,51934,0,0,0,5286,0,0,0,887848,0,0,,,,,0,78600,0,0,0,51764,0,0 +17-43095791-T-C,17,43095791,rs2154513078,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+55A>G,,c.670+55A>G,intron_variant,,,,1,1240858,8.058939862578958e-7,0,0,,,2.44,,0.0600,0.0600,-1.10,,,0,28972,0,0,0,41234,0,0,0,24510,0,0,0,38222,0,0,0,52238,0,0,0,5338,0,0,1,917834,0,0,,,,,0,79546,0,0,0,52964,0,0 +17-43095791-T-G,17,43095791,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+55A>C,,c.670+55A>C,intron_variant,,,,1,1240858,8.058939862578958e-7,0,0,,,1.71,,0.0100,-0.0100,-1.10,,,0,28972,0,0,0,41234,0,0,0,24510,0,0,1,38222,0,0,0,52238,0,0,0,5338,0,0,0,917834,0,0,,,,,0,79546,0,0,0,52964,0,0 +17-43095794-A-ATCTACCCACTCTCTTTTCAGTGCCTG,17,43095794,,A,ATCTACCCACTCTCTTTTCAGTGCCTG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+26_670+51dup,,c.670+26_670+51dup,intron_variant,,,,1,1266028,7.89871945960121e-7,0,0,,,6.26,,0.00,-0.0500,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,1,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 +17-43095794-ATCTACCCACTC-A,17,43095794,,ATCTACCCACTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+41_670+51del,,c.670+41_670+51del,intron_variant,,,,1,1266028,7.89871945960121e-7,0,0,,,6.74,,0.00,-0.0800,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,1,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 +17-43095794-A-G,17,43095794,rs1597881731,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+52T>C,,c.670+52T>C,intron_variant,,,,2,1266028,0.000001579743891920242,0,0,nfe,3.5000000000000004e-7,10.5,,0.00,-0.0200,0.110,,,0,29494,0,0,0,41900,0,0,0,24650,0,0,0,38462,0,0,0,52404,0,0,0,5398,0,0,2,939614,0,0,,,,,0,80338,0,0,0,53768,0,0 +17-43095799-C-A,17,43095799,rs1421409748,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+47G>T,,c.670+47G>T,intron_variant,,,,1,1298314,7.702296979005079e-7,0,0,,,2.91,,0.0200,-0.0500,0.00600,,,0,30152,0,0,0,42664,0,0,0,24904,0,0,0,38714,0,0,0,52654,0,0,0,5484,0,0,1,967460,0,0,,,,,0,81394,0,0,0,54888,0,0 +17-43095799-C-T,17,43095799,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+47G>A,,c.670+47G>A,intron_variant,,,,1,1298312,7.702308844099108e-7,0,0,,,4.31,,0.0500,-0.0800,0.00600,,,0,30152,0,0,0,42664,0,0,0,24904,0,0,0,38714,0,0,0,52654,0,0,0,5484,0,0,1,967458,0,0,,,,,0,81394,0,0,0,54888,0,0 +17-43095800-C-A,17,43095800,rs748966067,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+46G>T,,c.670+46G>T,intron_variant,,,,25,1455620,0.000017174812107555542,0,0,nfe,0.000014719999999999998,0.775,,0.0200,-0.0500,0.165,,,0,71662,0,0,0,58050,0,0,0,28412,0,0,0,43944,0,0,0,63242,0,0,0,5800,0,0,23,1040148,0,0,0,910,0,0,0,86308,0,0,2,57144,0,0 +17-43095800-C-T,17,43095800,rs748966067,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+46G>A,,c.670+46G>A,intron_variant,,,,1,1303534,7.671453141997063e-7,0,0,,,8.88,,0.900,0.750,0.165,,,0,30252,0,0,0,42784,0,0,0,24944,0,0,0,38746,0,0,0,52644,0,0,0,5484,0,0,0,972142,0,0,,,,,1,81484,0,0,0,55054,0,0 +17-43095801-C-T,17,43095801,rs273902780,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+45G>A,,c.670+45G>A,intron_variant,Uncertain significance,125901,,1,1310846,7.628661185219316e-7,0,0,,,2.60,,0.150,0.100,0.142,,,1,30396,0,0,0,42966,0,0,0,25002,0,0,0,38788,0,0,0,52748,0,0,0,5496,0,0,0,978414,0,0,,,,,0,81730,0,0,0,55306,0,0 +17-43095805-C-T,17,43095805,rs2054105782,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+41G>A,,c.670+41G>A,intron_variant,,,,2,1512908,0.000001321957448833637,0,0,,,5.00,,0.0700,0.0300,0.355,,,0,72836,0,0,1,58682,0,0,0,28778,0,0,0,44254,0,0,0,63532,0,0,0,5898,0,0,1,1091102,0,0,0,912,0,0,0,87808,0,0,0,59106,0,0 +17-43095805-C-CT,17,43095805,,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+40dup,,c.670+40dup,intron_variant,,,,1,1360720,7.349050502675054e-7,0,0,,,7.08,,0.0400,-0.0900,0.355,,,0,31386,0,0,0,43414,0,0,0,25310,0,0,0,39054,0,0,0,52920,0,0,0,5582,0,0,0,1023064,0,0,,,,,0,82976,0,0,1,57014,0,0 +17-43095805-C-G,17,43095805,rs2054105782,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+41G>C,,c.670+41G>C,intron_variant,,,,1,1360720,7.349050502675054e-7,0,0,,,4.44,,0.0300,-0.0400,0.355,,,0,31386,0,0,0,43414,0,0,0,25310,0,0,0,39054,0,0,0,52920,0,0,0,5582,0,0,1,1023064,0,0,,,,,0,82976,0,0,0,57014,0,0 +17-43095807-CTT-C,17,43095807,rs763949697,CTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+37_670+38del,,c.670+37_670+38del,intron_variant,,,,2,1531698,0.000001305740426637627,0,0,,,5.91,,0.0500,-0.120,1.41,,,0,73198,0,0,0,58878,0,0,0,28924,0,0,0,44352,0,0,0,63556,0,0,0,5924,0,0,2,1107986,0,0,0,912,0,0,0,88268,0,0,0,59700,0,0 +17-43095813-A-G,17,43095813,rs1464234975,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+33T>C,,c.670+33T>C,intron_variant,,,,1,1395094,7.167975777976252e-7,0,0,,,10.7,,0.0400,-0.0700,1.68,,,0,32062,0,0,0,44052,0,0,0,25596,0,0,0,39320,0,0,0,53104,0,0,0,5656,0,0,0,1053112,0,0,,,,,1,84038,0,0,0,58154,0,0 +17-43095815-T-G,17,43095815,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+31A>C,,c.670+31A>C,intron_variant,,,,2,1406744,0.0000014217227868041379,0,0,nfe,3.1e-7,5.21,,0.00,-0.0100,-0.939,,,0,32290,0,0,0,44152,0,0,0,25672,0,0,0,39380,0,0,0,53158,0,0,0,5680,0,0,2,1063562,0,0,,,,,0,84354,0,0,0,58496,0,0 +17-43095815-T-C,17,43095815,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+31A>G,,c.670+31A>G,intron_variant,,,,1,1406744,7.108613934020689e-7,0,0,,,6.11,,0.0200,-0.0300,-0.939,,,0,32290,0,0,0,44152,0,0,0,25672,0,0,0,39380,0,0,0,53158,0,0,0,5680,0,0,1,1063562,0,0,,,,,0,84354,0,0,0,58496,0,0 +17-43095816-G-A,17,43095816,rs1336317191,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+30C>T,,c.670+30C>T,intron_variant,,,,3,1562614,0.0000019198599270197245,0,0,afr,0.0000108,5.44,,0.930,0.840,0.100,,,3,73778,0,0,0,59444,0,0,0,29160,0,0,0,44558,0,0,0,63756,0,0,0,5994,0,0,0,1134964,0,0,0,912,0,0,0,89326,0,0,0,60722,0,0 +17-43095820-G-C,17,43095820,rs368134697,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+26C>G,,c.670+26C>G,intron_variant,Likely benign,439441,,26,1585660,0.00001639695773368818,0,0,afr,0.00019986999999999997,0.372,,0.0100,-0.0700,-0.851,,,22,74432,0,0,2,59680,0,0,0,29336,0,0,0,44702,0,0,0,63830,0,0,0,6014,0,0,0,1155196,0,0,0,912,0,0,0,90008,0,0,2,61550,0,0 +17-43095821-T-C,17,43095821,rs1201105473,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+25A>G,,c.670+25A>G,intron_variant,,,,7,1435786,0.000004875378364185192,0,0,nfe,0.00000267,6.08,,0.0500,-0.130,0.0190,,,0,32924,0,0,0,44438,0,0,0,25882,0,0,0,39540,0,0,0,53240,0,0,0,5722,0,0,7,1089246,0,0,,,,,0,85272,0,0,0,59522,0,0 +17-43095825-G-T,17,43095825,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+21C>A,,c.670+21C>A,intron_variant,,,,1,814676,0.0000012274818455435044,0,0,,,2.88,,0.0200,-0.0300,0.0330,,,0,15336,0,0,0,960,0,0,0,5070,0,0,0,3534,0,0,0,270,0,0,0,1584,0,0,1,745222,0,0,,,,,0,16012,0,0,0,26688,0,0 +17-43095829-G-A,17,43095829,rs533684596,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+17C>T,,c.670+17C>T,intron_variant,Likely benign,1127631,,3,1604108,0.0000018701982659521678,0,0,sas,0.00000881,1.77,,0.00,0.0100,0.409,,,0,74752,0,0,0,59808,0,0,0,29466,0,0,0,44794,0,0,0,63862,0,0,0,6042,0,0,0,1171830,0,0,0,912,0,0,3,90498,0,0,0,62144,0,0 +17-43095830-C-T,17,43095830,rs199916228,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+16G>A,,c.670+16G>A,intron_variant,Benign,142297,,224,1606486,0.00013943476631604634,2,0,nfe,0.00016549,2.76,,0.00,0.00,0.675,,,1,74836,0,0,0,59892,0,0,0,29490,0,0,0,44812,0,0,0,63894,0,0,0,6046,0,0,218,1173752,2,0,0,912,0,0,1,90614,0,0,4,62238,0,0 +17-43095832-A-G,17,43095832,rs1342806434,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+14T>C,,c.670+14T>C,intron_variant,Likely benign,1106537,,1,1455648,6.869792697135571e-7,0,0,,,10.6,,0.0600,-0.110,2.17,,,1,33328,0,0,0,44624,0,0,0,26038,0,0,0,39652,0,0,0,53338,0,0,0,5754,0,0,0,1106870,0,0,,,,,0,85852,0,0,0,60192,0,0 +17-43095834-C-T,17,43095834,rs560661816,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+12G>A,,c.670+12G>A,intron_variant,Likely benign,462684,,7,1608034,0.000004353141786803016,0,0,sas,0.000028730000000000004,0.258,,0.00,0.0100,0.204,,,0,74874,0,0,0,59930,0,0,0,29518,0,0,0,44812,0,0,0,63930,0,0,0,6048,0,0,0,1174996,0,0,0,912,0,0,6,90710,0,0,1,62304,0,0 +17-43095834-C-G,17,43095834,rs560661816,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+12G>C,,c.670+12G>C,intron_variant,Likely benign,491183,,1,1455794,6.869103733083115e-7,0,0,,,0.211,,0.00,0.0100,0.204,,,0,33322,0,0,0,44638,0,0,0,26048,0,0,0,39648,0,0,0,53334,0,0,0,5754,0,0,1,1106978,0,0,,,,,0,85880,0,0,0,60192,0,0 +17-43095838-G-C,17,43095838,rs80358050,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+8C>G,,c.670+8C>G,splice_region_variant,Uncertain significance,125903,,2,1457978,0.0000013717628112358348,0,0,nfe,2.999999999999999e-7,11.9,,0.0800,-0.140,2.67,,,0,33372,0,0,0,44654,0,0,0,26062,0,0,0,39658,0,0,0,53338,0,0,0,5758,0,0,2,1108898,0,0,,,,,0,85980,0,0,0,60258,0,0 +17-43095838-G-A,17,43095838,rs80358050,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+8C>T,,c.670+8C>T,splice_region_variant,Conflicting interpretations of pathogenicity,37692,,6,1457978,0.000004115288433707505,0,0,nfe,0.0000013199999999999999,15.4,,0.600,0.240,2.67,,,1,33372,0,0,0,44654,0,0,0,26062,0,0,0,39658,0,0,0,53338,0,0,0,5758,0,0,5,1108898,0,0,,,,,0,85980,0,0,0,60258,0,0 +17-43095839-C-T,17,43095839,rs80358167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+7G>A,,c.670+7G>A,splice_region_variant,Likely benign,125902,,1,830904,0.00000120350846788558,0,0,,,5.82,,0.00,0.0100,0.0240,,,0,15716,0,0,0,980,0,0,0,5142,0,0,0,3616,0,0,0,276,0,0,0,1614,0,0,1,759922,0,0,,,,,0,16402,0,0,0,27236,0,0 +17-43095841-A-G,17,43095841,rs1030987340,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.670+5T>C,,c.670+5T>C,intron_variant,Uncertain significance,462686,,3,780280,0.000003844773670989901,0,0,,,13.4,,0.130,-0.200,-0.192,,,0,59116,0,0,0,58958,0,0,0,24406,0,0,0,41218,0,0,0,63682,0,0,0,4462,0,0,0,417884,0,0,0,912,0,0,1,74476,0,0,2,35166,0,0 +17-43095843-T-C,17,43095843,rs1555593531,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+3A>G,,c.670+3A>G,intron_variant,Uncertain significance,482895,,1,628238,0.0000015917534437585755,0,0,,,23.5,,0.750,-0.690,2.91,,,0,17686,0,0,0,43698,0,0,0,20940,0,0,0,36042,0,0,0,53086,0,0,0,4146,0,0,1,349902,0,0,,,,,0,69662,0,0,0,33076,0,0 +17-43095844-A-G,17,43095844,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+2T>C,,c.670+2T>C,splice_donor_variant,,,,3,628250,0.000004775169120573021,0,0,sas,0.00000476,32.0,,0.790,-0.800,4.63,,,0,17688,0,0,0,43698,0,0,0,20940,0,0,0,36046,0,0,0,53086,0,0,0,4146,0,0,1,349906,0,0,,,,,2,69660,0,0,0,33080,0,0 +17-43095845-C-A,17,43095845,rs398122706,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+1G>T,,c.670+1G>T,splice_donor_variant,Uncertain significance,91661,,1,1460402,6.847429680320898e-7,0,0,,,33.0,,0.790,-0.800,2.00,,,0,33454,0,0,0,44682,0,0,0,26082,0,0,0,39664,0,0,0,53362,0,0,0,5764,0,0,1,1110922,0,0,,,,,0,86114,0,0,0,60358,0,0 +17-43095845-C-T,17,43095845,rs398122706,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.670+1G>A,,c.670+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,1755007,,3,1460402,0.0000020542289040962695,0,0,nfe,7.200000000000001e-7,32.0,,0.790,-0.800,2.00,,,0,33454,0,0,0,44682,0,0,0,26082,0,0,0,39664,0,0,0,53362,0,0,0,5764,0,0,3,1110922,0,0,,,,,0,86114,0,0,0,60358,0,0 +17-43095846-C-A,17,43095846,rs431825419,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Ser,p.Ala224Ser,c.670G>T,missense_variant,,,,1,1460598,6.846510812694526e-7,0,0,,,35.0,0.513,0.770,-0.740,5.72,0.0900,0.169,0,33458,0,0,0,44682,0,0,0,26092,0,0,0,39668,0,0,0,53362,0,0,0,5764,0,0,0,1111094,0,0,,,,,0,86112,0,0,1,60366,0,0 +17-43095846-C-T,17,43095846,rs431825419,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala224Thr,p.Ala224Thr,c.670G>A,missense_variant,Conflicting interpretations of pathogenicity,96954,,1,1460598,6.846510812694526e-7,0,0,,,36.0,0.541,0.720,-0.700,5.72,0.0500,0.300,0,33458,0,0,0,44682,0,0,0,26092,0,0,0,39668,0,0,0,53362,0,0,0,5764,0,0,1,1111094,0,0,,,,,0,86112,0,0,0,60366,0,0 +17-43095847-CT-C,17,43095847,rs80357537,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys223ArgfsTer11,p.Lys223ArgfsTer11,c.668del,frameshift_variant,Conflicting interpretations of pathogenicity,55659,,1,1460514,6.846904582907113e-7,0,0,,,22.8,,0.120,-0.0800,0.469,,,0,33458,0,0,0,44670,0,0,0,26088,0,0,0,39662,0,0,0,53362,0,0,0,5764,0,0,0,1111042,0,0,,,,,1,86118,0,0,0,60350,0,0 +17-43095851-T-C,17,43095851,rs398122705,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Arg,p.Lys222Arg,c.665A>G,missense_variant,Uncertain significance,91660,,1,628422,0.0000015912873833188526,0,0,,,16.1,0.573,0.0400,-0.100,0.742,0.280,0.115,0,17688,0,0,0,43710,0,0,0,20950,0,0,0,36048,0,0,0,53108,0,0,0,4146,0,0,1,349976,0,0,,,,,0,69714,0,0,0,33082,0,0 +17-43095852-T-A,17,43095852,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Ter,p.Lys222Ter,c.664A>T,stop_gained,,,,2,1461066,0.0000013688635557873497,0,0,nfe,2.999999999999999e-7,34.0,,0.100,-0.320,0.332,,,0,33468,0,0,0,44698,0,0,0,26092,0,0,0,39676,0,0,0,53382,0,0,0,5766,0,0,2,1111454,0,0,,,,,0,86162,0,0,0,60368,0,0 +17-43095852-T-C,17,43095852,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys222Glu,p.Lys222Glu,c.664A>G,missense_variant,Uncertain significance,1754673,,1,1461066,6.844317778936749e-7,0,0,,,14.5,0.502,0.00,-0.0400,0.332,0.450,0.00300,0,33468,0,0,0,44698,0,0,0,26092,0,0,0,39676,0,0,0,53382,0,0,0,5766,0,0,0,1111454,0,0,,,,,0,86162,0,0,1,60368,0,0 +17-43095854-G-A,17,43095854,rs1597881888,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala221Val,p.Ala221Val,c.662C>T,missense_variant,Uncertain significance,826519,,1,1460948,6.844870590876609e-7,0,0,,,33.0,0.551,0.520,-0.510,1.28,0.0300,0.0840,0,33446,0,0,0,44686,0,0,0,26102,0,0,0,39674,0,0,0,53364,0,0,0,5766,0,0,1,1111384,0,0,,,,,0,86166,0,0,0,60360,0,0 +17-43095855-C-A,17,43095855,rs80357088,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ala221Ser,p.Ala221Ser,c.661G>T,missense_variant,Conflicting interpretations of pathogenicity,37690,,111,1613026,0.00006881476182033023,1,0,nfe,0.0000766,13.7,0.565,0.00,0.00,0.677,0.140,0.0140,2,74854,0,0,0,59938,0,0,0,29566,0,0,0,44868,0,0,0,63924,0,0,0,6082,0,0,107,1179418,0,0,0,912,0,0,0,91012,0,0,2,62452,1,0 +17-43095855-C-T,17,43095855,rs80357088,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala221Thr,p.Ala221Thr,c.661G>A,missense_variant,,,,2,1461048,0.0000013688804200820233,0,0,eas,0.00000835,15.9,0.519,0.00,0.00,0.677,0.340,0.00500,0,33452,0,0,0,44680,0,0,0,26098,0,0,2,39674,0,0,0,53362,0,0,0,5766,0,0,0,1111472,0,0,,,,,0,86182,0,0,0,60362,0,0 +17-43095857-G-C,17,43095857,rs431825418,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ser220Cys,p.Ser220Cys,c.659C>G,missense_variant,Uncertain significance,96953,,1,151876,0.000006584318786378361,0,0,,,32.0,0.479,0.340,-0.380,4.05,0.0400,0.339,0,41352,0,0,0,15250,0,0,0,3466,0,0,1,5182,0,0,0,10530,0,0,0,316,0,0,0,67958,0,0,0,910,0,0,0,4830,0,0,0,2082,0,0 +17-43095861-C-G,17,43095861,rs273902779,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219His,p.Asp219His,c.655G>C,missense_variant,Uncertain significance,234087,,1,1461448,6.842528779676047e-7,0,0,,,22.6,0.575,0.390,-0.410,1.34,0.200,0.380,0,33464,0,0,0,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,1,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 +17-43095861-C-A,17,43095861,rs273902779,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219Tyr,p.Asp219Tyr,c.655G>T,missense_variant,Uncertain significance,1754198,,1,1461448,6.842528779676047e-7,0,0,,,30.0,0.575,0.580,-0.510,1.34,0.0300,0.556,0,33464,0,0,0,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,1,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 +17-43095861-C-T,17,43095861,rs273902779,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp219Asn,p.Asp219Asn,c.655G>A,missense_variant,Conflicting interpretations of pathogenicity,55655,,2,1461448,0.0000013685057559352094,0,0,amr,0.000007420000000000001,19.6,0.391,0.340,-0.330,1.34,0.540,0.00300,0,33464,0,0,2,44704,0,0,0,26102,0,0,0,39680,0,0,0,53386,0,0,0,5768,0,0,0,1111762,0,0,,,,,0,86206,0,0,0,60376,0,0 +17-43095864-A-C,17,43095864,rs765950064,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu218Val,p.Leu218Val,c.652T>G,missense_variant,Benign,1684697,,2,1461530,0.000001368428975115119,0,0,nfe,2.999999999999999e-7,4.86,0.648,0.00,0.0100,-1.98,0.200,0.344,0,33466,0,0,0,44708,0,0,0,26112,0,0,0,39678,0,0,0,53388,0,0,0,5768,0,0,2,1111822,0,0,,,,,0,86204,0,0,0,60384,0,0 +17-43095866-C-G,17,43095866,rs774284145,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser217Thr,p.Ser217Thr,c.650G>C,missense_variant,Uncertain significance,531351,,1,628544,0.0000015909785154261276,0,0,,,7.24,0.577,0.00,0.0100,0.163,0.270,0.00600,0,17688,0,0,0,43724,0,0,0,20964,0,0,0,36050,0,0,0,53110,0,0,0,4148,0,0,1,350024,0,0,,,,,0,69750,0,0,0,33086,0,0 +17-43095875-T-C,17,43095875,rs55680408,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp214Gly,p.Asp214Gly,c.641A>G,missense_variant,Benign,37689,,95,1613828,0.00005886624844778998,0,0,nfe,0.00006642,14.3,0.584,0.230,-0.230,0.350,0.270,0.00,0,74932,0,0,0,59984,0,0,0,29582,0,0,0,44878,0,0,0,64010,0,0,0,6084,0,0,94,1179920,0,0,0,912,0,0,0,91046,0,0,1,62480,0,0 +17-43095878-C-T,17,43095878,rs1567803140,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg213Lys,p.Arg213Lys,c.638G>A,missense_variant,Conflicting interpretations of pathogenicity,578841,,2,628560,0.000003181876034109711,0,0,eas,0.00000919,5.69,0.538,0.130,0.0200,0.126,0.650,0.00,0,17690,0,0,0,43724,0,0,0,20962,0,0,2,36052,0,0,0,53110,0,0,0,4148,0,0,0,350040,0,0,,,,,0,69748,0,0,0,33086,0,0 +17-43095881-G-A,17,43095881,rs2054112546,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr212Ile,p.Thr212Ile,c.635C>T,missense_variant,Uncertain significance,919790,,4,833024,0.0000048017824216349105,0,0,nfe,0.0000012299999999999999,18.4,0.531,0.170,-0.250,2.90,0.0100,0.0340,0,15784,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,4,761826,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43095885-C-T,17,43095885,rs1192717688,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly211Arg,p.Gly211Arg,c.631G>A,missense_variant,Uncertain significance,631030,,1,1461604,6.841798462511049e-7,0,0,,,24.2,0.560,0.370,-0.360,1.96,0.0100,0.673,0,33474,0,0,0,44708,0,0,0,26122,0,0,0,39682,0,0,0,53388,0,0,0,5766,0,0,1,1111874,0,0,,,,,0,86206,0,0,0,60384,0,0 +17-43095886-T-C,17,43095886,rs1555593567,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln210Gln,p.Gln210Gln,c.630A>G,synonymous_variant,Likely benign,481086,,2,1461594,0.000001368369054607504,0,0,,,15.8,,0.380,-0.410,1.38,,,1,33474,0,0,0,44706,0,0,0,26122,0,0,0,39680,0,0,0,53388,0,0,0,5768,0,0,1,1111870,0,0,,,,,0,86200,0,0,0,60386,0,0 +17-43095890-G-A,17,43095890,rs201596327,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro209Leu,p.Pro209Leu,c.626C>T,missense_variant,Uncertain significance,409315,,16,1613812,0.000009914413822675751,0,0,eas,0.00022319999999999995,17.7,0.536,0.0300,0.0100,3.41,0.200,0.0150,0,75032,0,0,0,59996,0,0,0,29594,0,0,16,44860,0,0,0,63994,0,0,0,6062,0,0,0,1179856,0,0,0,912,0,0,0,91018,0,0,0,62488,0,0 +17-43095891-G-A,17,43095891,rs730881466,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro209Ser,p.Pro209Ser,c.625C>T,missense_variant,Uncertain significance,182125,,1,833008,0.000001200468662966022,0,0,,,11.0,0.615,0.0300,-0.0400,1.56,0.130,0.164,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,761810,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43095892-G-A,17,43095892,rs2054114975,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Thr,p.Thr208Thr,c.624C>T,synonymous_variant,Likely benign,918385,,2,628534,0.00000318200765591042,0,0,sas,0.00000476,5.79,,0.0100,0.00,0.347,,,0,17690,0,0,0,43724,0,0,0,20972,0,0,0,36046,0,0,0,53104,0,0,0,4146,0,0,0,350030,0,0,,,,,2,69740,0,0,0,33082,0,0 +17-43095893-G-C,17,43095893,rs764499766,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Ser,p.Thr208Ser,c.623C>G,missense_variant,,,,6,1461538,0.0000041052644542940385,0,0,sas,0.000015830000000000003,7.42,0.612,0.0100,0.00,0.248,0.390,0.0570,0,33474,0,0,0,44710,0,0,0,26122,0,0,0,39672,0,0,0,53382,0,0,0,5768,0,0,0,1111830,0,0,,,,,4,86200,0,0,2,60380,0,0 +17-43095893-G-A,17,43095893,rs764499766,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr208Ile,p.Thr208Ile,c.623C>T,missense_variant,,,,1,1461538,6.842107423823397e-7,0,0,,,15.2,0.634,0.0300,0.0100,0.248,0.0400,0.00900,0,33474,0,0,0,44710,0,0,0,26122,0,0,0,39672,0,0,0,53382,0,0,0,5768,0,0,0,1111830,0,0,,,,,1,86200,0,0,0,60380,0,0 +17-43095897-T-C,17,43095897,rs2054115706,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile207Val,p.Ile207Val,c.619A>G,missense_variant,Uncertain significance,856578,,1,628478,0.0000015911455930040512,0,0,,,16.6,0.509,0.00,0.0100,0.500,0.0600,0.0170,0,17690,0,0,0,43724,0,0,0,20960,0,0,1,36044,0,0,0,53096,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69720,0,0,0,33084,0,0 +17-43095898-T-A,17,43095898,rs1597882068,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln206His,p.Gln206His,c.618A>T,missense_variant,,,,2,832924,0.000002401179459350433,0,0,afr,0.000021930000000000002,14.2,0.599,0.0500,-0.0300,-0.368,0.0500,0.00,2,15782,0,0,0,984,0,0,0,5150,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,0,761734,0,0,,,,,0,16456,0,0,0,27296,0,0 +17-43095901-T-C,17,43095901,rs1597882085,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu205Leu,p.Leu205Leu,c.615A>G,synonymous_variant,Likely benign,759823,,1,628476,0.0000015911506565087609,0,0,,,7.06,,0.00,0.0100,1.28,,,0,17692,0,0,0,43722,0,0,0,20952,0,0,0,36044,0,0,0,53098,0,0,0,4148,0,0,0,350012,0,0,,,,,1,69726,0,0,0,33082,0,0 +17-43095904-C-T,17,43095904,rs80357394,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu204Leu,p.Leu204Leu,c.612G>A,synonymous_variant,Likely benign,756892,,1,1461238,6.843512145181004e-7,0,0,,,6.76,,0.0400,-0.0300,0.176,,,0,33472,0,0,0,44708,0,0,0,26108,0,0,0,39670,0,0,0,53370,0,0,0,5768,0,0,1,1111586,0,0,,,,,0,86180,0,0,0,60376,0,0 +17-43095904-C-G,17,43095904,rs80357394,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu204Phe,p.Leu204Phe,c.612G>C,missense_variant,Conflicting interpretations of pathogenicity,55646,,177,1613428,0.00010970430660680241,0,0,nfe,0.00012836,15.3,0.634,0.00,-0.0100,0.176,0.0400,0.0250,1,74926,0,0,0,59982,0,0,0,29580,0,0,0,44876,0,0,0,63980,0,0,0,6084,0,0,173,1179612,0,0,0,910,0,0,0,91012,0,0,3,62466,0,0 +17-43095905-A-C,17,43095905,rs1403004357,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu204Trp,p.Leu204Trp,c.611T>G,missense_variant,Uncertain significance,639275,,2,1613306,0.000001239690424507192,0,0,,,23.0,0.664,0.00,0.00,1.59,0.00,0.846,0,74906,0,0,0,59984,0,0,0,29578,0,0,0,44870,0,0,0,63994,0,0,0,6084,0,0,0,1179516,0,0,0,910,0,0,2,91006,0,0,0,62458,0,0 +17-43095906-ATTC-A,17,43095906,,ATTC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu203del,p.Glu203del,c.607_609del,inframe_deletion,,,,2,1461042,0.0000013688860416059223,0,0,nfe,2.999999999999999e-7,16.9,,0.330,-0.320,0.382,,,0,33468,0,0,0,44700,0,0,0,26104,0,0,0,39670,0,0,0,53368,0,0,0,5768,0,0,2,1111432,0,0,,,,,0,86168,0,0,0,60364,0,0 +17-43095906-A-G,17,43095906,rs2154514962,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu204Leu,p.Leu204Leu,c.610T>C,synonymous_variant,Likely benign,1090009,,1,1461042,6.844430208029611e-7,0,0,,,7.94,,0.00,0.0100,0.382,,,0,33468,0,0,0,44700,0,0,0,26104,0,0,0,39670,0,0,0,53368,0,0,0,5768,0,0,1,1111432,0,0,,,,,0,86168,0,0,0,60364,0,0 +17-43095912-G-T,17,43095912,rs2054117377,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln202Lys,p.Gln202Lys,c.604C>A,missense_variant,Uncertain significance,838225,,3,1460314,0.0000020543526940096446,0,0,nfe,2.999999999999999e-7,15.5,0.543,0.210,-0.260,0.498,0.230,0.0150,0,33452,0,0,0,44690,0,0,0,26092,0,0,0,39668,0,0,0,53346,0,0,0,5766,0,0,2,1110850,0,0,,,,,0,86110,0,0,1,60340,0,0 +17-43095918-C-T,17,43095918,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly200Arg,p.Gly200Arg,c.598G>A,missense_variant,,,,2,1459530,0.0000013703041390036519,0,0,,,8.46,0.599,0.00,-0.0300,0.0940,0.890,0.564,0,33426,0,0,0,44682,0,0,0,26082,0,0,0,39658,0,0,0,53338,0,0,0,5764,0,0,1,1110198,0,0,,,,,0,86072,0,0,1,60310,0,0 +17-43095921-C-T,17,43095921,rs1555593622,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val199Met,p.Val199Met,c.595G>A,missense_variant,Uncertain significance,481435,,1,1458610,6.855842205935789e-7,0,0,,,22.6,0.563,0.150,-0.250,0.514,0.130,0.0790,0,33418,0,0,0,44666,0,0,0,26082,0,0,0,39660,0,0,0,53336,0,0,0,5764,0,0,1,1109360,0,0,,,,,0,86028,0,0,0,60296,0,0 +17-43095923-C-A,17,43095923,rs757781708,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-1G>T,,c.594-1G>T,splice_acceptor_variant,Uncertain significance,440453,,1,628046,0.0000015922400588491925,0,0,,,33.0,,0.830,-0.810,7.10,,,0,17686,0,0,0,43682,0,0,0,20942,0,0,0,36040,0,0,0,53054,0,0,0,4148,0,0,0,349802,0,0,,,,,1,69624,0,0,0,33068,0,0 +17-43095924-T-C,17,43095924,rs80358033,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-2A>G,,c.594-2A>G,splice_acceptor_variant,Conflicting interpretations of pathogenicity,55644,,1,1457768,6.859802108428776e-7,0,0,,,33.0,,0.830,-0.810,6.36,,,0,33400,0,0,0,44656,0,0,0,26078,0,0,0,39650,0,0,0,53326,0,0,0,5762,0,0,1,1108658,0,0,,,,,0,85988,0,0,0,60250,0,0 +17-43095924-T-G,17,43095924,rs80358033,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-2A>C,,c.594-2A>C,splice_acceptor_variant,Benign,37686,,94,1609948,0.00005838697895832661,0,0,nfe,0.00006577,34.0,,0.830,-0.810,6.36,,,0,74842,0,0,0,59932,0,0,0,29550,0,0,0,44852,0,0,0,63936,0,0,0,6078,0,0,93,1176692,0,0,0,912,0,0,0,90812,0,0,1,62342,0,0 +17-43095926-T-C,17,43095926,rs80358081,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-4A>G,,c.594-4A>G,splice_region_variant,Likely benign,125898,,8,1608634,0.000004973163566106399,0,0,sas,0.00001429,2.77,,0.00,-0.110,-0.912,,,1,74810,0,0,0,59904,0,0,0,29520,0,0,1,44844,0,0,0,63930,0,0,0,6078,0,0,2,1175552,0,0,0,912,0,0,4,90758,0,0,0,62326,0,0 +17-43095928-G-A,17,43095928,rs1555593629,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-6C>T,,c.594-6C>T,splice_region_variant,Conflicting interpretations of pathogenicity,438944,,5,827440,0.000006042734216378227,0,0,nfe,0.0000012399999999999998,6.45,,0.00,0.00,1.50,,,1,15648,0,0,0,978,0,0,0,5118,0,0,0,3594,0,0,0,276,0,0,0,1608,0,0,4,756774,0,0,,,,,0,16310,0,0,0,27134,0,0 +17-43095931-A-G,17,43095931,rs2154515444,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-9T>C,,c.594-9T>C,intron_variant,Likely benign,1621848,,2,825250,0.000002423508027870342,0,0,nfe,4.4e-7,20.3,,0.0700,-0.160,3.60,,,0,15592,0,0,0,978,0,0,0,5110,0,0,0,3588,0,0,0,276,0,0,0,1606,0,0,2,754794,0,0,,,,,0,16262,0,0,0,27044,0,0 +17-43095934-A-T,17,43095934,rs1555593633,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-12T>A,,c.594-12T>A,intron_variant,,,,1,1449138,6.900654043990289e-7,0,0,,,23.1,,0.430,-0.450,2.91,,,0,33166,0,0,0,44586,0,0,0,25980,0,0,0,39616,0,0,0,53256,0,0,0,5750,0,0,1,1101088,0,0,,,,,0,85694,0,0,0,60002,0,0 +17-43095935-G-T,17,43095935,rs2154515466,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-13C>A,,c.594-13C>A,intron_variant,Uncertain significance,1171986,,1,1447138,6.910191011499939e-7,0,0,,,20.2,,0.190,-0.320,1.15,,,0,33110,0,0,0,44572,0,0,0,25964,0,0,0,39600,0,0,0,53242,0,0,0,5754,0,0,1,1099358,0,0,,,,,0,85612,0,0,0,59926,0,0 +17-43095937-C-CA,17,43095937,rs1555593635,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-16dup,,c.594-16dup,intron_variant,Likely benign,415578,,1,1444772,6.92150733818208e-7,0,0,,,17.4,,0.00,0.0100,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,1,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 +17-43095937-C-G,17,43095937,rs80358102,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-15G>C,,c.594-15G>C,intron_variant,Likely benign,125896,,49,1444772,0.00003391538595709219,0,0,nfe,0.00003418,8.60,,0.00,0.00,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,49,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 +17-43095937-C-T,17,43095937,rs80358102,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-15G>A,,c.594-15G>A,intron_variant,,,,1,1444772,6.92150733818208e-7,0,0,,,11.3,,0.0700,-0.100,-0.540,,,0,33074,0,0,0,44534,0,0,0,25938,0,0,0,39586,0,0,0,53232,0,0,0,5744,0,0,1,1097260,0,0,,,,,0,85554,0,0,0,59850,0,0 +17-43095941-G-A,17,43095941,rs1567803295,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-19C>T,,c.594-19C>T,intron_variant,Likely benign,1077787,,2,1437616,0.000001391192084673515,0,0,nfe,3.1e-7,14.9,,0.00,0.00,0.815,,,0,32946,0,0,0,44442,0,0,0,25888,0,0,0,39560,0,0,0,53122,0,0,0,5728,0,0,2,1091014,0,0,,,,,0,85322,0,0,0,59594,0,0 +17-43095941-G-T,17,43095941,rs1567803295,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-19C>A,,c.594-19C>A,intron_variant,,,,1,1437614,6.95597010045812e-7,0,0,,,15.4,,0.100,-0.130,0.815,,,0,32946,0,0,0,44442,0,0,0,25888,0,0,0,39560,0,0,0,53122,0,0,0,5728,0,0,1,1091014,0,0,,,,,0,85320,0,0,0,59594,0,0 +17-43095942-T-C,17,43095942,rs80358017,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-20A>G,,c.594-20A>G,intron_variant,Likely benign,125897,,28,1438184,0.0000194689970128996,0,0,nfe,0.00001694,15.1,,0.0300,-0.120,0.157,,,0,32944,0,0,0,44436,0,0,0,25878,0,0,0,39572,0,0,0,53150,0,0,0,5730,0,0,27,1091546,0,0,,,,,0,85330,0,0,1,59598,0,0 +17-43095943-C-A,17,43095943,rs2154515580,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-21G>T,,c.594-21G>T,intron_variant,,,,1,625914,0.0000015976635767853092,0,0,,,13.8,,0.00,0.00,0.377,,,0,17668,0,0,0,43442,0,0,0,20842,0,0,0,36014,0,0,0,52842,0,0,0,4148,0,0,0,348660,0,0,,,,,1,69318,0,0,0,32980,0,0 +17-43095944-C-T,17,43095944,rs1597882236,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-22G>A,,c.594-22G>A,intron_variant,,,,4,807960,0.000004950740135650279,0,0,nfe,0.00000108,14.1,,0.00,0.0200,0.492,,,0,15184,0,0,0,962,0,0,0,5012,0,0,0,3532,0,0,0,270,0,0,0,1578,0,0,3,739030,0,0,,,,,0,15900,0,0,1,26492,0,0 +17-43095948-T-C,17,43095948,rs2054120127,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-26A>G,,c.594-26A>G,intron_variant,,,,1,1405460,7.115108220796038e-7,0,0,,,23.3,,0.670,-0.500,4.61,,,0,32288,0,0,0,44116,0,0,0,25640,0,0,1,39400,0,0,0,52942,0,0,0,5660,0,0,0,1062370,0,0,,,,,0,84490,0,0,0,58554,0,0 +17-43095950-A-G,17,43095950,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-28T>C,,c.594-28T>C,intron_variant,,,,1,776342,0.0000012880921037377856,0,0,,,22.9,,0.490,-0.430,2.33,,,0,14558,0,0,0,904,0,0,0,4788,0,0,0,3382,0,0,0,268,0,0,0,1508,0,0,1,710252,0,0,,,,,0,15238,0,0,0,25444,0,0 +17-43095951-G-A,17,43095951,rs1338886710,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-29C>T,,c.594-29C>T,intron_variant,,,,1,1402000,7.132667617689016e-7,0,0,,,21.1,,0.170,-0.220,2.92,,,0,32248,0,0,0,44072,0,0,0,25606,0,0,0,39368,0,0,0,52884,0,0,0,5654,0,0,1,1059354,0,0,,,,,0,84380,0,0,0,58434,0,0 +17-43095956-A-G,17,43095956,rs147314539,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-34T>C,,c.594-34T>C,intron_variant,Benign/Likely benign,225726,,266,1536138,0.00017316152585249503,0,0,eas,0.0020584500000000016,10.6,,0.00,-0.0200,0.0260,,,2,73432,0,0,7,59088,0,0,0,28912,0,0,108,44428,0,0,0,63400,0,0,4,5918,0,0,68,1111410,0,0,0,912,0,0,61,88694,0,0,16,59944,0,0 +17-43095958-T-C,17,43095958,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-36A>G,,c.594-36A>G,intron_variant,,,,1,736422,0.000001357917063857408,0,0,,,14.4,,0.0300,-0.0300,1.09,,,0,13746,0,0,0,862,0,0,0,4520,0,0,0,3170,0,0,0,254,0,0,0,1426,0,0,1,673858,0,0,,,,,0,14456,0,0,0,24130,0,0 +17-43095961-T-C,17,43095961,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-39A>G,,c.594-39A>G,intron_variant,,,,1,619912,0.000001613132186503891,0,0,,,13.9,,0.150,-0.100,-0.118,,,0,17588,0,0,0,42550,0,0,0,20710,0,0,1,35912,0,0,0,52314,0,0,0,4132,0,0,0,345288,0,0,,,,,0,68658,0,0,0,32760,0,0 +17-43095965-A-C,17,43095965,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-43T>G,,c.594-43T>G,intron_variant,,,,3,706098,0.000004248702021532422,0,0,nfe,5.199999999999999e-7,7.81,,0.100,-0.210,-0.933,,,0,13114,0,0,0,820,0,0,0,4376,0,0,0,3018,0,0,0,236,0,0,0,1384,0,0,2,646130,0,0,,,,,0,13890,0,0,1,23130,0,0 +17-43095966-T-C,17,43095966,rs778735627,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-44A>G,,c.594-44A>G,intron_variant,,,,36,1477278,0.000024369143790132934,0,0,afr,0.00020596999999999998,0.722,,0.00,0.00,-2.09,,,22,72144,0,0,0,58236,0,0,0,28528,0,0,0,44078,0,0,11,62892,0,0,0,5824,0,0,1,1059586,0,0,0,912,0,0,2,87134,0,0,0,57944,0,0 +17-43095967-G-T,17,43095967,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-45C>A,,c.594-45C>A,intron_variant,,,,1,1319020,7.58138618064927e-7,0,0,,,1.37,,0.00,0.0200,-0.225,,,0,30580,0,0,0,42812,0,0,0,25010,0,0,0,38840,0,0,0,52132,0,0,0,5510,0,0,1,986412,0,0,,,,,0,82142,0,0,0,55582,0,0 +17-43095970-T-C,17,43095970,rs747958543,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-48A>G,,c.594-48A>G,intron_variant,,,,5,613846,0.000008145365449966278,0,0,sas,0.000019710000000000003,4.80,,0.00,-0.0100,0.832,,,0,17476,0,0,0,41650,0,0,0,20620,0,0,0,35768,0,0,0,51678,0,0,0,4122,0,0,1,341926,0,0,,,,,4,68078,0,0,0,32528,0,0 +17-43095972-C-T,17,43095972,rs2154515823,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-50G>A,,c.594-50G>A,intron_variant,,,,1,1277664,7.826783880582062e-7,0,0,,,0.210,,0.00,-0.0300,-0.232,,,0,29752,0,0,0,42094,0,0,0,24712,0,0,0,38572,0,0,0,51620,0,0,0,5418,0,0,0,950366,0,0,,,,,1,80886,0,0,0,54244,0,0 +17-43095973-A-G,17,43095973,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-51T>C,,c.594-51T>C,intron_variant,,,,1,1277276,7.829161434177109e-7,0,0,,,8.13,,0.00,-0.0600,0.794,,,0,29762,0,0,0,42032,0,0,0,24724,0,0,0,38556,0,0,0,51626,0,0,0,5418,0,0,1,950090,0,0,,,,,0,80824,0,0,0,54244,0,0 +17-43095974-G-C,17,43095974,rs2154515830,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-52C>G,,c.594-52C>G,intron_variant,,,,3,611036,0.000004909694355160744,0,0,nfe,0.0000023400000000000005,0.0850,,0.00,0.00,-0.485,,,0,17426,0,0,0,41240,0,0,0,20584,0,0,0,35662,0,0,0,51342,0,0,0,4112,0,0,3,340494,0,0,,,,,0,67730,0,0,0,32446,0,0 +17-43095978-T-A,17,43095978,rs1555593648,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-56A>T,,c.594-56A>T,intron_variant,Likely benign,491180,,8,607218,0.000013174840008036653,0,0,eas,0.00009148999999999997,6.91,,0.0100,0.0100,0.893,,,0,17338,0,0,0,40652,0,0,0,20552,0,0,7,35542,0,0,0,50940,0,0,0,4106,0,0,0,338328,0,0,,,,,0,67454,0,0,1,32306,0,0 +17-43095981-C-A,17,43095981,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-59G>T,,c.594-59G>T,intron_variant,,,,1,1215182,8.229219985154487e-7,0,0,,,1.15,,0.00,0.0100,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,0,896442,0,0,,,,,1,78976,0,0,0,52248,0,0 +17-43095981-C-G,17,43095981,rs2054121070,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-59G>C,,c.594-59G>C,intron_variant,,,,1,1215184,8.229206441164466e-7,0,0,,,1.24,,0.00,-0.0400,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,1,896442,0,0,,,,,0,78978,0,0,0,52248,0,0 +17-43095981-C-CA,17,43095981,,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-60dup,,c.594-60dup,intron_variant,,,,2,1215184,0.0000016458412882328932,0,0,,,4.21,,0.00,-0.0100,0.310,,,0,28506,0,0,0,40780,0,0,0,24294,0,0,0,37998,0,0,0,50648,0,0,0,5290,0,0,1,896442,0,0,,,,,0,78978,0,0,1,52248,0,0 +17-43095981-C-T,17,43095981,rs2054121070,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-59G>A,,c.594-59G>A,intron_variant,,,,4,1367352,0.000002925362306121613,0,0,sas,0.00001614,1.51,,0.00,0.00,0.310,,,0,69952,0,0,0,56040,0,0,0,27766,0,0,0,43198,0,0,0,61268,0,0,0,5606,0,0,0,964464,0,0,0,912,0,0,4,83806,0,0,0,54340,0,0 +17-43095983-A-C,17,43095983,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-61T>G,,c.594-61T>G,intron_variant,,,,1,601398,0.0000016627923604667791,0,0,,,4.87,,0.00,0.00,0.401,,,0,17202,0,0,0,39794,0,0,0,20498,0,0,0,35342,0,0,0,50252,0,0,0,4104,0,0,1,335222,0,0,,,,,0,66878,0,0,0,32106,0,0 +17-43095986-G-A,17,43095986,rs1054128964,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-64C>T,,c.594-64C>T,intron_variant,Likely benign,491181,,38,1338216,0.000028396013797473652,0,0,amr,0.0004822900000000002,1.45,,0.0200,0.0100,0.172,,,0,69374,0,0,36,55350,0,0,0,27576,0,0,0,42908,0,0,0,60664,0,0,0,5552,0,0,0,939662,0,0,0,912,0,0,0,82890,0,0,2,53328,0,0 +17-43095986-G-T,17,43095986,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-64C>A,,c.594-64C>A,intron_variant,,,,1,1186032,8.431475710604773e-7,0,0,,,1.08,,0.00,0.0100,0.172,,,0,27932,0,0,0,40074,0,0,0,24104,0,0,0,37710,0,0,0,50048,0,0,0,5236,0,0,0,871634,0,0,,,,,1,78058,0,0,0,51236,0,0 +17-43095988-C-T,17,43095988,rs972137244,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-66G>A,,c.594-66G>A,intron_variant,,,,3,1172468,0.0000025587052269230375,0,0,,,0.127,,0.00,0.00,-0.958,,,0,27628,0,0,0,39724,0,0,1,24016,0,0,0,37518,0,0,0,49836,0,0,0,5210,0,0,0,860072,0,0,,,,,1,77754,0,0,1,50710,0,0 +17-43095989-C-G,17,43095989,rs115632775,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.594-67G>C,,c.594-67G>C,intron_variant,,,,1,152124,0.000006573584707212537,0,0,,,4.85,,0.00,-0.0400,0.740,,,0,41420,0,0,1,15274,0,0,0,3472,0,0,0,5196,0,0,0,10602,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43095989-C-A,17,43095989,rs115632775,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-67G>T,,c.594-67G>T,intron_variant,,,,187,1285514,0.00014546710498679905,0,0,afr,0.0022196800000000004,4.73,,0.0100,0.0100,0.740,,,173,68426,0,0,4,54522,0,0,0,27212,0,0,0,42360,0,0,0,59966,0,0,0,5414,0,0,5,893608,0,0,0,912,0,0,0,81480,0,0,5,51614,0,0 +17-43095992-G-A,17,43095992,rs2154515931,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-70C>T,,c.594-70C>T,intron_variant,,,,3,1133340,0.000002647043252686749,0,0,nfe,9.699999999999998e-7,1.08,,0.0100,0.0100,-0.0710,,,0,26870,0,0,0,39170,0,0,0,23744,0,0,0,37162,0,0,0,49178,0,0,0,5126,0,0,3,825984,0,0,,,,,0,76632,0,0,0,49474,0,0 +17-43095992-G-C,17,43095992,rs2154515931,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-70C>G,,c.594-70C>G,intron_variant,,,,1,1133340,8.82347750895583e-7,0,0,,,0.940,,0.0200,0.0100,-0.0710,,,0,26870,0,0,0,39170,0,0,0,23744,0,0,0,37162,0,0,0,49178,0,0,0,5126,0,0,1,825984,0,0,,,,,0,76632,0,0,0,49474,0,0 +17-43095994-T-C,17,43095994,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.594-72A>G,,c.594-72A>G,intron_variant,,,,1,1113408,8.981433580502386e-7,0,0,,,6.80,,0.00,-0.0200,0.682,,,0,26456,0,0,0,38758,0,0,0,23602,0,0,0,36868,0,0,0,48824,0,0,0,5090,0,0,0,808904,0,0,,,,,1,76028,0,0,0,48878,0,0 +17-43095996-A-G,17,43095996,rs2054121595,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.594-74T>C,,c.594-74T>C,intron_variant,,,,3,740706,0.0000040501899539088385,0,0,sas,0.00001128,7.04,,0.00,-0.0400,0.660,,,0,58302,0,0,0,53248,0,0,0,23862,0,0,0,39774,0,0,0,59030,0,0,0,4394,0,0,0,396868,0,0,0,912,0,0,3,70584,0,0,0,33732,0,0 +17-43097169-A-C,17,43097169,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+75T>G,,c.593+75T>G,intron_variant,,,,1,1244864,8.033006015114904e-7,0,0,,,10.1,,0.00,0.00,2.59,,,1,27754,0,0,0,36622,0,0,0,23628,0,0,0,38564,0,0,0,52632,0,0,0,5070,0,0,0,931778,0,0,,,,,0,76018,0,0,0,52798,0,0 +17-43097169-A-G,17,43097169,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+75T>C,,c.593+75T>C,intron_variant,,,,1,1244864,8.033006015114904e-7,0,0,,,10.4,,0.00,0.00,2.59,,,0,27754,0,0,0,36622,0,0,0,23628,0,0,0,38564,0,0,0,52632,0,0,0,5070,0,0,1,931778,0,0,,,,,0,76018,0,0,0,52798,0,0 +17-43097172-G-T,17,43097172,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+72C>A,,c.593+72C>A,intron_variant,,,,8,1262996,0.000006334145159604622,0,0,eas,0.00002058,0.0740,,0.00,0.00,-1.75,,,0,28174,0,0,0,36632,0,0,0,23788,0,0,3,38652,0,0,0,52660,0,0,0,5164,0,0,0,948156,0,0,,,,,1,76346,0,0,4,53424,0,0 +17-43097178-T-C,17,43097178,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+66A>G,,c.593+66A>G,intron_variant,,,,2,681004,0.000002936840312244862,0,0,,,3.40,,0.00,-0.0100,-0.908,,,1,12698,0,0,0,794,0,0,0,4170,0,0,0,2880,0,0,0,224,0,0,0,1356,0,0,1,623418,0,0,,,,,0,13312,0,0,0,22152,0,0 +17-43097179-C-T,17,43097179,rs920856985,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+65G>A,,c.593+65G>A,intron_variant,,,,22,1442022,0.000015256355312193573,0,0,nfe,0.00001261,3.77,,0.00,0.00,-0.741,,,0,70482,0,0,0,54426,0,0,0,27764,0,0,0,43994,0,0,0,63600,0,0,0,5638,0,0,20,1035854,0,0,0,912,0,0,1,82896,0,0,1,56456,0,0 +17-43097184-C-T,17,43097184,rs2054173076,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+60G>A,,c.593+60G>A,intron_variant,Likely benign,1325670,,14,1329234,0.000010532381807868291,0,0,sas,0.00010476999999999999,12.6,,0.00,0.00,0.396,,,0,30122,0,0,0,41852,0,0,0,24948,0,0,0,38982,0,0,0,53192,0,0,0,5458,0,0,0,998456,0,0,,,,,14,80374,0,0,0,55850,0,0 +17-43097185-TTAA-T,17,43097185,,TTAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+56_593+58del,,c.593+56_593+58del,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,13.3,,0.0100,0.0100,2.76,,,0,16936,0,0,0,41072,0,0,0,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,1,347594,0,0,,,,,0,66574,0,0,0,32628,0,0 +17-43097185-T-G,17,43097185,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+59A>C,,c.593+59A>C,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,15.2,,0.00,0.00,2.76,,,0,16936,0,0,0,41072,0,0,1,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,0,347594,0,0,,,,,0,66574,0,0,0,32628,0,0 +17-43097185-T-C,17,43097185,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+59A>G,,c.593+59A>G,intron_variant,,,,1,618318,0.0000016172907791783515,0,0,,,15.4,,0.00,-0.0100,2.76,,,0,16936,0,0,0,41072,0,0,0,20562,0,0,0,35944,0,0,0,52962,0,0,0,4046,0,0,0,347594,0,0,,,,,1,66574,0,0,0,32628,0,0 +17-43097187-A-C,17,43097187,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+57T>G,,c.593+57T>G,intron_variant,,,,2,1330498,0.0000015031965474581698,0,0,nfe,3.3e-7,15.4,,0.00,0.00,2.02,,,0,30150,0,0,0,41922,0,0,0,24998,0,0,0,39018,0,0,0,53196,0,0,0,5468,0,0,2,999404,0,0,,,,,0,80502,0,0,0,55840,0,0 +17-43097188-A-G,17,43097188,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+56T>C,,c.593+56T>C,intron_variant,,,,1,619666,0.0000016137725807128356,0,0,,,15.0,,0.00,0.00,0.608,,,0,17050,0,0,0,41446,0,0,0,20630,0,0,0,35966,0,0,0,52996,0,0,0,4060,0,0,0,347922,0,0,,,,,1,66906,0,0,0,32690,0,0 +17-43097189-T-C,17,43097189,rs188273106,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+55A>G,,c.593+55A>G,intron_variant,,,,8,1507434,0.000005307031684305913,0,0,eas,0.00007340999999999998,15.3,,0.00,0.00,-0.153,,,0,72248,0,0,0,57698,0,0,0,28680,0,0,7,44310,0,0,0,63868,0,0,0,5804,0,0,0,1088922,0,0,0,912,0,0,0,86184,0,0,1,58808,0,0 +17-43097191-T-C,17,43097191,rs1398355525,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+53A>G,,c.593+53A>G,intron_variant,,,,3,772534,0.0000038833242290954185,0,0,nfe,0.0000019200000000000003,10.3,,0.00,-0.0100,-0.198,,,0,58534,0,0,0,56990,0,0,0,24134,0,0,0,41170,0,0,0,63594,0,0,0,4386,0,0,3,416100,0,0,0,912,0,0,0,71906,0,0,0,34808,0,0 +17-43097191-TTAAC-T,17,43097191,rs1468140125,TTAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+49_593+52del,,c.593+49_593+52del,intron_variant,,,,1,152148,0.000006572547782422378,0,0,,,12.1,,0.00,0.0100,-0.198,,,1,41428,0,0,0,15282,0,0,0,3472,0,0,0,5206,0,0,0,10596,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4824,0,0,0,2092,0,0 +17-43097196-T-A,17,43097196,rs2054173665,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+48A>T,,c.593+48A>T,intron_variant,,,,1,152152,0.000006572374993427625,0,0,,,9.92,,0.00,0.00,0.152,,,0,41442,0,0,0,15280,0,0,0,3472,0,0,0,5196,0,0,0,10598,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43097196-T-C,17,43097196,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+48A>G,,c.593+48A>G,intron_variant,,,,5,1407354,0.0000035527663970827527,0,0,sas,0.00000958,10.6,,0.00,0.00,0.152,,,0,31958,0,0,0,43204,0,0,0,25648,0,0,0,39388,0,0,0,53282,0,0,0,5640,0,0,2,1066622,0,0,,,,,3,83142,0,0,0,58470,0,0 +17-43097197-A-G,17,43097197,rs1285710590,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+47T>C,,c.593+47T>C,intron_variant,,,,2,1408562,0.0000014198878004660072,0,0,,,15.5,,0.0100,0.00,0.495,,,1,32008,0,0,1,43430,0,0,0,25684,0,0,0,39386,0,0,0,53310,0,0,0,5656,0,0,0,1067128,0,0,,,,,0,83420,0,0,0,58540,0,0 +17-43097200-T-C,17,43097200,rs1404502873,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+44A>G,,c.593+44A>G,intron_variant,,,,3,945750,0.0000031720856463124504,0,0,,,2.79,,0.00,0.00,-0.673,,,1,56272,0,0,0,16218,0,0,0,8402,0,0,1,8648,0,0,0,10868,0,0,0,1876,0,0,0,794012,0,0,0,912,0,0,0,20478,0,0,1,28064,0,0 +17-43097202-G-T,17,43097202,rs1393779959,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+42C>A,,c.593+42C>A,intron_variant,,,,2,1579696,0.0000012660663823925615,0,0,,,2.86,,0.00,0.0100,-0.637,,,0,73892,0,0,0,59160,0,0,0,29314,0,0,0,44682,0,0,2,63902,0,0,0,6010,0,0,0,1151474,0,0,0,912,0,0,0,89014,0,0,0,61336,0,0 +17-43097209-A-G,17,43097209,rs2154520719,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+35T>C,,c.593+35T>C,intron_variant,,,,1,627156,0.0000015944996141310934,0,0,,,14.6,,0.0200,-0.0100,0.934,,,0,17624,0,0,0,43538,0,0,0,20946,0,0,0,36002,0,0,0,53112,0,0,0,4128,0,0,1,349690,0,0,,,,,0,69088,0,0,0,33028,0,0 +17-43097210-C-T,17,43097210,rs2154520726,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+34G>A,,c.593+34G>A,intron_variant,,,,10,1444896,0.000006920913339091533,0,0,nfe,0.00000461,6.61,,0.00,0.00,-0.381,,,0,33020,0,0,0,44494,0,0,0,26004,0,0,0,39566,0,0,0,53382,0,0,0,5728,0,0,10,1097582,0,0,,,,,0,85246,0,0,0,59874,0,0 +17-43097212-A-G,17,43097212,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+32T>C,,c.593+32T>C,intron_variant,,,,2,820108,0.0000024387031951889263,0,0,nfe,4.4e-7,12.9,,0.00,0.00,0.843,,,0,15448,0,0,0,974,0,0,0,5064,0,0,0,3590,0,0,0,272,0,0,0,1604,0,0,2,750034,0,0,,,,,0,16208,0,0,0,26914,0,0 +17-43097214-C-G,17,43097214,rs1488614291,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+30G>C,,c.593+30G>C,intron_variant,,,,1,1450936,6.892102752981523e-7,0,0,,,9.04,,0.00,0.00,0.248,,,0,33188,0,0,0,44624,0,0,0,26046,0,0,1,39592,0,0,0,53388,0,0,0,5748,0,0,0,1102656,0,0,,,,,0,85638,0,0,0,60056,0,0 +17-43097215-T-A,17,43097215,rs771982743,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+29A>T,,c.593+29A>T,intron_variant,,,,15,1604300,0.000009349872218413016,0,0,nfe,0.00000769,11.2,,0.00,0.00,0.873,,,0,74644,0,0,0,59916,0,0,0,29538,0,0,0,44806,0,0,0,63994,0,0,0,6064,0,0,15,1171754,0,0,0,912,0,0,0,90492,0,0,0,62180,0,0 +17-43097216-T-C,17,43097216,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+28A>G,,c.593+28A>G,intron_variant,,,,5,824844,0.0000060617522828559095,0,0,nfe,0.00000194,11.2,,0.0100,-0.0100,0.199,,,0,15554,0,0,0,976,0,0,0,5100,0,0,0,3602,0,0,0,270,0,0,0,1610,0,0,5,754364,0,0,,,,,0,16314,0,0,0,27054,0,0 +17-43097218-A-C,17,43097218,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+26T>G,,c.593+26T>G,intron_variant,,,,1,826082,0.0000012105335789909476,0,0,,,13.6,,0.0100,-0.0300,0.187,,,0,15588,0,0,0,978,0,0,0,5108,0,0,0,3598,0,0,0,270,0,0,0,1612,0,0,0,755486,0,0,,,,,0,16338,0,0,1,27104,0,0 +17-43097219-T-A,17,43097219,rs929583740,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+25A>T,,c.593+25A>T,intron_variant,,,,12,1606504,0.0000074696359299447744,0,0,nfe,0.00000545,1.56,,0.00,0.00,-4.76,,,0,74728,0,0,0,59924,0,0,0,29544,0,0,0,44820,0,0,0,64010,0,0,0,6072,0,0,12,1173670,0,0,0,912,0,0,0,90562,0,0,0,62262,0,0 +17-43097219-T-C,17,43097219,rs929583740,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+25A>G,,c.593+25A>G,intron_variant,,,,2,1454276,0.0000013752547659453914,0,0,,,2.06,,0.0100,0.00,-4.76,,,0,33270,0,0,0,44640,0,0,0,26072,0,0,0,39614,0,0,0,53390,0,0,0,5756,0,0,1,1105636,0,0,,,,,1,85728,0,0,0,60170,0,0 +17-43097222-A-G,17,43097222,rs1425065873,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+22T>C,,c.593+22T>C,intron_variant,,,,2,1456108,0.0000013735244913152045,0,0,,,9.60,,0.0100,-0.0100,0.515,,,0,33332,0,0,0,44674,0,0,0,26084,0,0,0,39622,0,0,0,53398,0,0,2,5764,0,0,0,1107214,0,0,,,,,0,85808,0,0,0,60212,0,0 +17-43097223-C-T,17,43097223,rs2054175027,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+21G>A,,c.593+21G>A,intron_variant,,,,1,628160,0.0000015919510952623535,0,0,,,3.30,,0.00,0.00,-0.484,,,0,17680,0,0,0,43708,0,0,0,20974,0,0,0,36018,0,0,0,53124,0,0,0,4146,0,0,0,349928,0,0,,,,,0,69514,0,0,1,33068,0,0 +17-43097226-AG-A,17,43097226,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+17del,,c.593+17del,intron_variant,,,,1,628154,0.000001591966301257335,0,0,,,11.9,,0.00,0.0100,2.82,,,0,17682,0,0,0,43708,0,0,0,20972,0,0,0,36016,0,0,0,53124,0,0,0,4144,0,0,1,349926,0,0,,,,,0,69514,0,0,0,33068,0,0 +17-43097227-G-A,17,43097227,rs1439349282,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.593+17C>T,,c.593+17C>T,intron_variant,Likely benign,1134625,,1,152064,0.000006576178451178451,0,0,,,13.8,,0.00,0.00,0.652,,,1,41394,0,0,0,15264,0,0,0,3466,0,0,0,5202,0,0,0,10578,0,0,0,316,0,0,0,68014,0,0,0,910,0,0,0,4826,0,0,0,2094,0,0 +17-43097227-G-T,17,43097227,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+17C>A,,c.593+17C>A,intron_variant,,,,1,830694,0.0000012038127156329527,0,0,,,13.4,,0.00,0.00,0.652,,,0,15736,0,0,0,980,0,0,0,5134,0,0,0,3624,0,0,0,276,0,0,0,1618,0,0,1,759660,0,0,,,,,0,16426,0,0,0,27240,0,0 +17-43097228-G-A,17,43097228,rs773139281,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+16C>T,,c.593+16C>T,intron_variant,Likely benign,240827,,3,1458952,0.000002056270528434109,0,0,,,16.2,,0.00,0.00,0.0500,,,0,33424,0,0,0,44690,0,0,0,26106,0,0,1,39636,0,0,0,53398,0,0,1,5762,0,0,0,1109642,0,0,,,,,0,85996,0,0,1,60298,0,0 +17-43097228-G-T,17,43097228,rs773139281,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+16C>A,,c.593+16C>A,intron_variant,Likely benign,531531,,3,1611004,0.0000018621927692296233,0,0,,,15.9,,0.00,0.00,0.0500,,,0,74826,0,0,0,59952,0,0,0,29574,0,0,1,44828,0,0,0,63982,0,0,0,6078,0,0,1,1177656,0,0,0,912,0,0,1,90810,0,0,0,62386,0,0 +17-43097228-G-C,17,43097228,rs773139281,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+16C>G,,c.593+16C>G,intron_variant,Likely benign,381763,,2,1611004,0.0000012414618461530821,0,0,,,16.2,,0.0100,-0.0100,0.0500,,,0,74826,0,0,0,59952,0,0,0,29574,0,0,0,44828,0,0,0,63982,0,0,0,6078,0,0,2,1177656,0,0,0,912,0,0,0,90810,0,0,0,62386,0,0 +17-43097230-T-C,17,43097230,rs1481255103,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+14A>G,,c.593+14A>G,intron_variant,Likely benign,2056610,,1,628280,0.0000015916470363532183,0,0,,,11.6,,0.0100,-0.0200,0.673,,,0,17684,0,0,0,43718,0,0,0,20972,0,0,1,36018,0,0,0,53126,0,0,0,4148,0,0,0,349966,0,0,,,,,0,69578,0,0,0,33070,0,0 +17-43097231-CTCTT-C,17,43097231,rs753624573,CTCTT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+9_593+12del,,c.593+9_593+12del,intron_variant,Likely benign,531456,,5,1612332,0.0000031010982849686046,0,0,afr,0.000017440000000000002,10.6,,0.00,0.0100,0.646,,,4,75022,0,0,0,60008,0,0,0,29582,0,0,0,44832,0,0,0,64010,0,0,0,6060,0,0,0,1178598,0,0,0,912,0,0,0,90872,0,0,1,62436,0,0 +17-43097233-CTT-C,17,43097233,rs1555594025,CTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+9_593+10del,,c.593+9_593+10del,intron_variant,Likely benign,531452,,1,628396,0.0000015913532231268182,0,0,,,10.4,,0.00,0.0200,0.0880,,,0,17690,0,0,0,43728,0,0,0,20976,0,0,1,36020,0,0,0,53132,0,0,0,4148,0,0,0,349994,0,0,,,,,0,69634,0,0,0,33074,0,0 +17-43097234-T-C,17,43097234,rs80358187,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+10A>G,,c.593+10A>G,intron_variant,Uncertain significance,125895,,1,628408,0.000001591322834846151,0,0,,,13.9,,0.0100,-0.0200,0.603,,,0,17690,0,0,0,43730,0,0,0,20976,0,0,0,36018,0,0,0,53132,0,0,0,4148,0,0,1,350002,0,0,,,,,0,69640,0,0,0,33072,0,0 +17-43097235-T-C,17,43097235,rs80358133,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+9A>G,,c.593+9A>G,intron_variant,Conflicting interpretations of pathogenicity,37685,,50,1460796,0.00003422791409615032,0,0,nfe,0.00003375,10.2,,0.0200,-0.0300,1.16,,,1,33460,0,0,0,44712,0,0,0,26120,0,0,0,39644,0,0,0,53408,0,0,0,5766,0,0,49,1111246,0,0,,,,,0,86092,0,0,0,60348,0,0 +17-43097236-T-C,17,43097236,rs863224421,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+8A>G,,c.593+8A>G,splice_region_variant,Likely benign,215876,,3,780636,0.0000038430203065193,0,0,nfe,0.0000019100000000000003,8.24,,0.00,0.0100,0.0980,,,0,59146,0,0,0,59012,0,0,0,24446,0,0,0,41228,0,0,0,63752,0,0,0,4464,0,0,3,418030,0,0,0,912,0,0,0,74476,0,0,0,35170,0,0 +17-43097238-A-C,17,43097238,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+6T>G,,c.593+6T>G,intron_variant,,,,2,628436,0.000003182503866742198,0,0,nfe,9.5e-7,15.7,,0.210,-0.280,3.03,,,0,17690,0,0,0,43730,0,0,0,20976,0,0,0,36022,0,0,0,53132,0,0,0,4148,0,0,2,350010,0,0,,,,,0,69654,0,0,0,33074,0,0 +17-43097239-C-T,17,43097239,rs1555594030,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+5G>A,,c.593+5G>A,intron_variant,Uncertain significance,479237,,2,1461070,0.000001368859808222741,0,0,nfe,2.999999999999999e-7,23.1,,0.800,-0.760,7.04,,,0,33468,0,0,0,44714,0,0,0,26120,0,0,0,39652,0,0,0,53406,0,0,0,5768,0,0,2,1111492,0,0,,,,,0,86096,0,0,0,60354,0,0 +17-43097240-T-C,17,43097240,rs80358154,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.593+4A>G,,c.593+4A>G,intron_variant,Conflicting interpretations of pathogenicity,55643,,1,832676,0.0000012009473072359478,0,0,,,20.2,,0.310,-0.310,4.62,,,0,15782,0,0,0,984,0,0,0,5148,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761506,0,0,,,,,0,16450,0,0,0,27282,0,0 +17-43097241-C-T,17,43097241,rs80358013,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.593+3G>A,,c.593+3G>A,intron_variant,Benign/Likely benign,91657,,30,1613494,0.000018593189686481637,0,0,afr,0.00021967999999999998,9.67,,0.0100,0.0100,1.03,,,24,75034,0,0,0,60010,0,0,0,29596,0,0,0,44850,0,0,0,64022,0,0,2,6060,0,0,0,1179610,0,0,0,912,0,0,1,90926,0,0,3,62474,0,0 +17-43097245-T-G,17,43097245,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser198Arg,p.Ser198Arg,c.592A>C,missense_variant,,,,1,1461288,6.843277984900992e-7,0,0,,,24.4,0.629,0.0700,-0.0600,4.52,0.140,0.731,0,33476,0,0,0,44714,0,0,0,26128,0,0,0,39654,0,0,0,53410,0,0,0,5768,0,0,1,1111654,0,0,,,,,0,86122,0,0,0,60362,0,0 +17-43097246-G-A,17,43097246,rs1799965,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys197Cys,p.Cys197Cys,c.591C>T,splice_region_variant,Benign,55642,,1893,1613468,0.001173249175068858,2,0,nfe,0.00113769,18.3,,0.130,-0.200,3.92,,,17,75024,0,0,40,60004,0,0,9,29600,0,0,0,44846,0,0,326,63976,0,0,8,6060,0,0,1404,1179618,1,0,0,912,0,0,40,90948,1,0,49,62480,0,0 +17-43097247-C-T,17,43097247,rs2154521053,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys197Tyr,p.Cys197Tyr,c.590G>A,missense_variant,,,,1,628466,0.0000015911759745157255,0,0,,,0.192,0.541,0.0100,0.00,-0.478,1.00,0.00,0,17692,0,0,0,43728,0,0,0,20976,0,0,1,36024,0,0,0,53132,0,0,0,4148,0,0,0,350006,0,0,,,,,0,69682,0,0,0,33078,0,0 +17-43097250-T-A,17,43097250,rs1555594039,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr196Phe,p.Tyr196Phe,c.587A>T,missense_variant,Uncertain significance,462680,,7,832980,0.000008403563110758962,0,0,nfe,0.00000382,7.77,0.571,0.0100,-0.0200,-0.109,0.0700,0.622,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761788,0,0,,,,,0,16456,0,0,0,27288,0,0 +17-43097255-T-C,17,43097255,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala194Ala,p.Ala194Ala,c.582A>G,synonymous_variant,,,,1,628484,0.0000015911304026832823,0,0,,,4.83,,0.0100,0.00,0.104,,,0,17688,0,0,0,43734,0,0,0,20978,0,0,1,36022,0,0,0,53134,0,0,0,4148,0,0,0,350012,0,0,,,,,0,69694,0,0,0,33074,0,0 +17-43097258-C-T,17,43097258,rs759197544,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys193Lys,p.Lys193Lys,c.579G>A,synonymous_variant,Likely benign,427322,,1,628470,0.0000015911658472162553,0,0,,,1.77,,0.00,0.00,0.282,,,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36022,0,0,1,53136,0,0,0,4148,0,0,0,349998,0,0,,,,,0,69686,0,0,0,33076,0,0 +17-43097265-A-T,17,43097265,rs80357142,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val191Asp,p.Val191Asp,c.572T>A,missense_variant,Conflicting interpretations of pathogenicity,55641,,2,628514,0.000003182108910859583,0,0,nfe,9.5e-7,21.8,0.637,0.0100,0.00,0.727,0.00,0.00,0,17692,0,0,0,43734,0,0,0,20978,0,0,0,36020,0,0,0,53138,0,0,0,4148,0,0,2,350028,0,0,,,,,0,69698,0,0,0,33078,0,0 +17-43097266-C-T,17,43097266,rs80357090,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val191Ile,p.Val191Ile,c.571G>A,missense_variant,Benign,37684,,162,1613640,0.0001003941399568677,0,0,eas,0.001529569999999999,8.79,0.532,0.0100,-0.0300,1.16,0.0900,0.00,13,74986,0,0,0,60006,0,0,0,29602,0,0,83,44842,0,0,0,63984,0,0,0,6062,0,0,30,1179796,0,0,0,912,0,0,13,90970,0,0,23,62480,0,0 +17-43097267-G-T,17,43097267,rs201536070,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr190Thr,p.Thr190Thr,c.570C>A,synonymous_variant,Likely benign,184888,,1,1461362,6.842931457092767e-7,0,0,,,0.624,,0.0300,-0.0500,-0.0300,,,0,33470,0,0,0,44716,0,0,0,26128,0,0,0,39646,0,0,0,53412,0,0,0,5768,0,0,1,1111740,0,0,,,,,0,86122,0,0,0,60360,0,0 +17-43097267-G-A,17,43097267,rs201536070,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr190Thr,p.Thr190Thr,c.570C>T,synonymous_variant,Likely benign,184512,,90,1613394,0.00005578302634074504,0,0,nfe,0.00005276,0.626,,0.0200,-0.0700,-0.0300,,,1,74918,0,0,0,59978,0,0,0,29594,0,0,3,44832,0,0,5,63954,0,0,0,6060,0,0,76,1179730,0,0,0,910,0,0,0,90944,0,0,5,62474,0,0 +17-43097268-G-A,17,43097268,rs1323835354,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr190Ile,p.Thr190Ile,c.569C>T,missense_variant,,,,1,628468,0.0000015911709108498763,0,0,,,15.2,0.518,0.0100,-0.0300,4.77,0.120,0.806,0,17692,0,0,0,43734,0,0,0,20976,0,0,0,36016,0,0,0,53136,0,0,0,4148,0,0,0,350004,0,0,,,,,1,69686,0,0,0,33076,0,0 +17-43097269-T-C,17,43097269,rs967624732,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr190Ala,p.Thr190Ala,c.568A>G,missense_variant,Uncertain significance,1489611,,1,152238,0.0000065686622262510016,0,0,,,11.4,0.604,0.0100,0.00,0.189,,,0,41458,0,0,0,15276,0,0,0,3472,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,1,68040,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43097273-T-C,17,43097273,rs768065826,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu188Glu,p.Glu188Glu,c.564A>G,synonymous_variant,Likely benign,184268,,20,1613668,0.000012394123202542283,0,0,nfe,0.00001107,12.2,,0.0200,-0.0500,2.89,,,0,74934,0,0,0,60006,0,0,0,29592,0,0,0,44856,0,0,0,64024,0,0,0,6084,0,0,20,1179830,0,0,0,912,0,0,0,90966,0,0,0,62464,0,0 +17-43097275-C-A,17,43097275,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu188Ter,p.Glu188Ter,c.562G>T,stop_gained,,,,1,832852,0.0000012006935205774855,0,0,,,46.0,,0.540,-0.560,8.73,,,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,1,761678,0,0,,,,,0,16452,0,0,0,27282,0,0 +17-43097275-C-T,17,43097275,rs1555594069,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu188Lys,p.Glu188Lys,c.562G>A,missense_variant,Uncertain significance,491178,,2,832852,0.000002401387041154971,0,0,nfe,4.4e-7,33.0,0.688,0.220,-0.280,8.73,0.00,0.549,0,15782,0,0,0,984,0,0,0,5150,0,0,0,3628,0,0,0,276,0,0,0,1620,0,0,2,761678,0,0,,,,,0,16452,0,0,0,27282,0,0 +17-43097280-G-T,17,43097280,rs55688530,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser186Tyr,p.Ser186Tyr,c.557C>A,missense_variant,Benign,55635,,790,1613484,0.0004896236962994365,5,0,afr,0.00856566,28.8,0.776,0.0400,-0.0800,8.63,0.00,0.956,685,75010,5,0,44,60008,0,0,0,29596,0,0,0,44832,0,0,0,64006,0,0,3,6060,0,0,12,1179650,0,0,0,912,0,0,1,90940,0,0,45,62470,0,0 +17-43097281-A-C,17,43097281,rs397509298,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser186Ala,p.Ser186Ala,c.556T>G,missense_variant,Uncertain significance,55633,,10,1461192,0.000006843727586792153,1,0,nfe,0.00000455,25.9,0.808,0.0100,0.00,6.21,0.00,0.675,0,33464,0,0,0,44712,0,0,0,26124,0,0,0,39650,0,0,0,53402,0,0,0,5766,0,0,10,1111626,1,0,,,,,0,86092,0,0,0,60356,0,0 +17-43097287-A-T,17,43097287,rs1064795269,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser184Thr,p.Ser184Thr,c.550T>A,missense_variant,Uncertain significance,421643,,5,628404,0.000007956664820720429,0,0,nfe,0.0000045,25.1,0.540,0.0100,0.00,6.21,0.00,0.444,0,17680,0,0,0,43718,0,0,0,20978,0,0,0,36014,0,0,0,53132,0,0,0,4146,0,0,5,350014,0,0,,,,,0,69650,0,0,0,33072,0,0 +17-43097288-T-G,17,43097288,rs1555594077,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly183Gly,p.Gly183Gly,c.549A>C,splice_region_variant,Likely benign,462675,,2,832568,0.0000024022061861613706,0,0,nfe,4.4e-7,14.1,,0.0200,-0.0300,0.273,,,0,15774,0,0,0,982,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,761412,0,0,,,,,0,16452,0,0,0,27280,0,0 +17-43097289-C-A,17,43097289,rs1555594081,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly183Val,p.Gly183Val,c.548G>T,missense_variant,Uncertain significance,441376,,1,832462,0.0000012012560333084273,0,0,,,33.0,0.636,0.610,-0.600,4.75,0.00,0.468,0,15772,0,0,0,982,0,0,0,5148,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,761308,0,0,,,,,0,16452,0,0,0,27280,0,0 +17-43097291-TA-T,17,43097291,rs398122353,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-3del,,c.548-3del,splice_region_variant,Benign/Likely benign,125887,,2,1612774,0.0000012400993567604636,0,0,,,9.75,,0.0500,-0.0300,6.24,,,0,74878,0,0,0,59934,0,0,0,29596,0,0,0,44834,0,0,0,64002,0,0,0,6080,0,0,2,1179202,0,0,0,910,0,0,0,90912,0,0,0,62426,0,0 +17-43097292-A-G,17,43097292,rs397507252,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-3T>C,,c.548-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,37677,,9,984126,0.000009145170435493016,0,0,nfe,0.00000511,12.5,,0.0200,0.00,2.33,,,0,57214,0,0,0,16242,0,0,0,8620,0,0,0,8820,0,0,0,10890,0,0,0,1934,0,0,9,828878,0,0,0,912,0,0,0,21266,0,0,0,29350,0,0 +17-43097296-A-C,17,43097296,rs1283743055,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-7T>G,,c.548-7T>G,splice_region_variant,Likely benign,1155212,,1,628368,0.0000015914241336287016,0,0,,,14.6,,0.0200,-0.0300,0.228,,,0,17672,0,0,0,43698,0,0,0,20976,0,0,0,36010,0,0,0,53126,0,0,0,4146,0,0,1,350022,0,0,,,,,0,69648,0,0,0,33070,0,0 +17-43097297-AT-A,17,43097297,rs273902774,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-9del,,c.548-9del,intron_variant,Conflicting interpretations of pathogenicity,37678,,54,1611856,0.000033501752017549954,0,0,afr,0.0003795400000000001,2.91,,0.00,0.0100,-0.190,,,38,74976,0,0,0,59944,0,0,0,29592,0,0,0,44816,0,0,0,63998,0,0,15,6058,0,0,0,1178258,0,0,0,910,0,0,0,90872,0,0,1,62432,0,0 +17-43097298-T-C,17,43097298,rs80358052,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-9A>G,,c.548-9A>G,intron_variant,Uncertain significance,125892,,7,1459624,0.00000479575561925537,0,0,nfe,0.00000194,22.8,,0.860,0.700,-0.213,,,0,33382,0,0,0,44670,0,0,0,26116,0,0,0,39628,0,0,0,53400,0,0,0,5734,0,0,6,1110314,0,0,,,,,0,86074,0,0,1,60306,0,0 +17-43097299-T-G,17,43097299,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-10A>C,,c.548-10A>C,intron_variant,,,,1,831086,0.0000012032449108756494,0,0,,,3.76,,0.0100,-0.0200,-0.974,,,0,15742,0,0,0,982,0,0,0,5144,0,0,0,3620,0,0,0,274,0,0,0,1618,0,0,1,760038,0,0,,,,,0,16436,0,0,0,27232,0,0 +17-43097300-TC-T,17,43097300,rs1567804289,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-12del,,c.548-12del,intron_variant,Benign,1648680,,1,1459046,6.853793506167728e-7,0,0,,,0.624,,0.0100,0.0100,-1.29,,,0,33384,0,0,0,44654,0,0,0,26114,0,0,0,39624,0,0,0,53390,0,0,0,5756,0,0,0,1109790,0,0,,,,,1,86054,0,0,0,60280,0,0 +17-43097300-T-C,17,43097300,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-11A>G,,c.548-11A>G,intron_variant,Likely benign,2581296,,1,1459046,6.853793506167728e-7,0,0,,,8.50,,0.00,0.00,-1.29,,,0,33384,0,0,0,44654,0,0,0,26114,0,0,1,39624,0,0,0,53390,0,0,0,5756,0,0,0,1109790,0,0,,,,,0,86054,0,0,0,60280,0,0 +17-43097301-C-T,17,43097301,rs80358164,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-12G>A,,c.548-12G>A,intron_variant,Conflicting interpretations of pathogenicity,125883,,1,628158,0.000001591956163895071,0,0,,,1.91,,0.0100,-0.0300,0.746,,,0,17654,0,0,0,43666,0,0,0,20968,0,0,0,36004,0,0,0,53116,0,0,0,4146,0,0,1,349948,0,0,,,,,0,69592,0,0,0,33064,0,0 +17-43097302-C-A,17,43097302,rs80358115,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-13G>T,,c.548-13G>T,intron_variant,Likely benign,125884,,1,1457852,6.859406853370576e-7,0,0,,,0.839,,0.00,-0.0200,0.964,,,0,33366,0,0,1,44644,0,0,0,26100,0,0,0,39626,0,0,0,53392,0,0,0,5760,0,0,0,1108742,0,0,,,,,0,85982,0,0,0,60240,0,0 +17-43097302-C-T,17,43097302,rs80358115,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-13G>A,,c.548-13G>A,intron_variant,,,,2,1457852,0.0000013718813706741151,0,0,,,10.2,,0.490,-0.500,0.964,,,0,33366,0,0,0,44644,0,0,0,26100,0,0,0,39626,0,0,0,53392,0,0,0,5760,0,0,0,1108742,0,0,,,,,1,85982,0,0,1,60240,0,0 +17-43097303-C-T,17,43097303,rs1451322222,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-14G>A,,c.548-14G>A,intron_variant,Likely benign,1644390,,1,829586,0.0000012054205350620672,0,0,,,16.3,,0.480,-0.560,2.45,,,0,15710,0,0,0,976,0,0,0,5136,0,0,0,3618,0,0,0,274,0,0,0,1612,0,0,0,758678,0,0,,,,,1,16408,0,0,0,27174,0,0 +17-43097303-C-A,17,43097303,rs1451322222,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-14G>T,,c.548-14G>T,intron_variant,,,,1,151760,0.000006589351607801792,0,0,,,6.90,,0.00,-0.0100,2.45,,,0,41324,0,0,0,15204,0,0,0,3466,0,0,0,5190,0,0,0,10522,0,0,0,316,0,0,1,67976,0,0,0,910,0,0,0,4766,0,0,0,2086,0,0 +17-43097304-C-T,17,43097304,rs755221482,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-15G>A,,c.548-15G>A,intron_variant,Conflicting interpretations of pathogenicity,245678,,1,1457062,6.863125934243018e-7,0,0,,,19.4,,0.530,0.610,4.90,,,0,33340,0,0,0,44610,0,0,0,26104,0,0,1,39616,0,0,0,53380,0,0,0,5760,0,0,0,1108082,0,0,,,,,0,85970,0,0,0,60200,0,0 +17-43097304-C-A,17,43097304,rs755221482,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-15G>T,,c.548-15G>T,intron_variant,Conflicting interpretations of pathogenicity,560857,,3,1457062,0.0000020589377802729053,0,0,nfe,2.999999999999999e-7,9.65,,0.00,-0.0100,4.90,,,0,33340,0,0,0,44610,0,0,0,26104,0,0,0,39616,0,0,0,53380,0,0,0,5760,0,0,2,1108082,0,0,,,,,1,85970,0,0,0,60200,0,0 +17-43097306-C-A,17,43097306,rs80358014,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-17G>T,,c.548-17G>T,intron_variant,Benign,37675,,464,1606792,0.00028877415371746936,0,0,nfe,0.00031946,6.90,,0.00,0.00,0.121,,,4,74738,0,0,2,59780,0,0,0,29546,0,0,0,44774,0,0,3,63862,0,0,0,6038,0,0,408,1174234,0,0,0,908,0,0,22,90676,0,0,25,62236,0,0 +17-43097306-C-CA,17,43097306,rs398122701,C,CA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-18dup,,c.548-18dup,intron_variant,Likely benign,531460,,4,1455034,0.0000027490766538788784,0,0,nfe,2.999999999999999e-7,5.90,,0.00,0.0100,0.121,,,1,33304,0,0,1,44570,0,0,0,26082,0,0,0,39616,0,0,0,53368,0,0,0,5744,0,0,2,1106294,0,0,,,,,0,85922,0,0,0,60134,0,0 +17-43097306-CA-C,17,43097306,rs398122701,CA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-18del,,c.548-18del,intron_variant,Benign,91655,,6,1606668,0.0000037344367349072738,0,0,afr,0.00003482999999999999,0.0850,,0.0300,0.0200,0.121,,,6,74616,0,0,0,59758,0,0,0,29546,0,0,0,44786,0,0,0,63862,0,0,0,6060,0,0,0,1174238,0,0,0,908,0,0,0,90680,0,0,0,62214,0,0 +17-43097307-A-C,17,43097307,rs397507251,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-18T>G,,c.548-18T>G,intron_variant,Likely benign,37676,,32,1605130,0.000019936079943680575,0,0,nfe,0.00001815,0.681,,0.0100,-0.0300,0.0780,,,0,74654,0,0,1,59800,0,0,0,29548,0,0,0,44784,0,0,0,63848,0,0,0,6054,0,0,30,1172696,0,0,0,910,0,0,0,90668,0,0,1,62168,0,0 +17-43097309-AAAAT-A,17,43097309,rs1158608835,AAAAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-24_548-21del,,c.548-24_548-21del,intron_variant,,,,1,151586,0.000006596915282413943,0,0,,,3.70,,0.0600,-0.110,0.505,,,1,41368,0,0,0,15164,0,0,0,3466,0,0,0,5166,0,0,0,10494,0,0,0,316,0,0,0,67906,0,0,0,908,0,0,0,4714,0,0,0,2084,0,0 +17-43097312-A-T,17,43097312,rs747918176,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-23T>A,,c.548-23T>A,intron_variant,,,,9,1589808,0.000005661060958304399,0,0,afr,0.00006287999999999998,4.26,,0.0100,-0.0500,0.135,,,9,74220,0,0,0,59650,0,0,0,29444,0,0,0,44688,0,0,0,63774,0,0,0,6026,0,0,0,1159208,0,0,0,908,0,0,0,90218,0,0,0,61672,0,0 +17-43097313-T-G,17,43097313,rs758221694,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-24A>C,,c.548-24A>C,intron_variant,Likely benign,491177,,8,1438732,0.0000055604518423167064,0,0,eas,0.00010063999999999996,0.369,,0.00,0.00,0.135,,,0,32902,0,0,0,44486,0,0,0,25978,0,0,8,39534,0,0,0,53346,0,0,0,5710,0,0,0,1091588,0,0,,,,,0,85574,0,0,0,59614,0,0 +17-43097315-A-G,17,43097315,rs2054183667,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-26T>C,,c.548-26T>C,intron_variant,,,,1,150908,0.000006626553926895857,0,0,,,12.1,,0.00,0.00,1.54,,,0,41280,0,0,1,15040,0,0,0,3456,0,0,0,5136,0,0,0,10380,0,0,0,312,0,0,0,67726,0,0,0,908,0,0,0,4612,0,0,0,2058,0,0 +17-43097317-T-A,17,43097317,rs2154521910,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-28A>T,,c.548-28A>T,intron_variant,,,,2,1425702,0.0000014028176996314799,0,0,nfe,3.1e-7,11.5,,0.0100,-0.0500,1.56,,,0,32644,0,0,0,44390,0,0,0,25878,0,0,0,39462,0,0,0,53332,0,0,0,5676,0,0,2,1079914,0,0,,,,,0,85242,0,0,0,59164,0,0 +17-43097318-C-T,17,43097318,rs1164265049,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-29G>A,,c.548-29G>A,intron_variant,,,,1,1425426,7.015446610346661e-7,0,0,,,9.05,,0.00,0.00,0.285,,,0,32634,0,0,0,44370,0,0,0,25876,0,0,0,39460,0,0,0,53320,0,0,0,5682,0,0,1,1079710,0,0,,,,,0,85220,0,0,0,59154,0,0 +17-43097318-C-A,17,43097318,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-29G>T,,c.548-29G>T,intron_variant,,,,1,1425426,7.015446610346661e-7,0,0,,,9.28,,0.0200,-0.0500,0.285,,,0,32634,0,0,0,44370,0,0,0,25876,0,0,1,39460,0,0,0,53320,0,0,0,5682,0,0,0,1079710,0,0,,,,,0,85220,0,0,0,59154,0,0 +17-43097319-A-G,17,43097319,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-30T>C,,c.548-30T>C,intron_variant,,,,1,1425094,7.017080978517909e-7,0,0,,,12.6,,0.0500,-0.100,1.24,,,0,32624,0,0,0,44400,0,0,0,25876,0,0,0,39460,0,0,0,53344,0,0,0,5684,0,0,1,1079344,0,0,,,,,0,85228,0,0,0,59134,0,0 +17-43097319-A-T,17,43097319,rs2054183894,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-30T>A,,c.548-30T>A,intron_variant,,,,1,149960,0.000006668444918644972,0,0,,,15.3,,0.310,-0.240,1.24,,,0,41132,0,0,0,14896,0,0,0,3434,0,0,0,5112,0,0,0,10204,0,0,0,310,0,0,1,67426,0,0,0,906,0,0,0,4500,0,0,0,2040,0,0 +17-43097320-A-G,17,43097320,rs1390448549,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-31T>C,,c.548-31T>C,intron_variant,,,,2,1421564,0.00000140690113142989,0,0,,,3.49,,0.00,0.00,0.374,,,0,32550,0,0,1,44432,0,0,0,25852,0,0,0,39442,0,0,0,53326,0,0,1,5672,0,0,0,1076128,0,0,,,,,0,85166,0,0,0,58996,0,0 +17-43097321-T-C,17,43097321,rs1384728821,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-32A>G,,c.548-32A>G,intron_variant,,,,9,1419562,0.000006339983741463916,0,0,eas,0.00002017,13.7,,0.00,-0.0300,2.82,,,0,32480,0,0,0,44372,0,0,0,25846,0,0,3,39432,0,0,0,53334,0,0,0,5660,0,0,0,1074354,0,0,,,,,1,85134,0,0,5,58950,0,0 +17-43097323-A-C,17,43097323,rs1442560766,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-34T>G,,c.548-34T>G,intron_variant,Likely benign,628438,,1,1410228,7.091051943373695e-7,0,0,,,11.0,,0.00,0.00,1.92,,,0,32258,0,0,0,44378,0,0,0,25786,0,0,0,39386,0,0,0,53314,0,0,0,5634,0,0,0,1065900,0,0,,,,,1,84936,0,0,0,58636,0,0 +17-43097323-A-G,17,43097323,rs1442560766,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-34T>C,,c.548-34T>C,intron_variant,Likely benign,433693,,9,1410228,0.000006381946749036326,0,0,nfe,0.0000032300000000000004,11.8,,0.0100,-0.0200,1.92,,,0,32258,0,0,0,44378,0,0,0,25786,0,0,0,39386,0,0,0,53314,0,0,0,5634,0,0,8,1065900,0,0,,,,,0,84936,0,0,1,58636,0,0 +17-43097324-A-G,17,43097324,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-35T>C,,c.548-35T>C,intron_variant,,,,1,1394320,7.171954787997017e-7,0,0,,,5.93,,0.00,0.00,0.0330,,,0,31928,0,0,0,44248,0,0,0,25678,0,0,1,39332,0,0,0,53286,0,0,0,5606,0,0,0,1051568,0,0,,,,,0,84522,0,0,0,58152,0,0 +17-43097326-G-T,17,43097326,rs1332875775,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-37C>A,,c.548-37C>A,intron_variant,,,,10,1395364,0.000007166588789735152,0,0,sas,0.000016040000000000002,0.332,,0.00,-0.0100,-0.217,,,0,31966,0,0,0,44194,0,0,0,25694,0,0,0,39338,0,0,0,53302,0,0,1,5606,0,0,3,1052466,0,0,,,,,4,84576,0,0,2,58222,0,0 +17-43097326-G-A,17,43097326,rs1332875775,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-37C>T,,c.548-37C>T,intron_variant,,,,1,1395366,7.166578517750898e-7,0,0,,,0.413,,0.00,-0.0100,-0.217,,,0,31966,0,0,0,44194,0,0,0,25694,0,0,0,39338,0,0,0,53302,0,0,0,5606,0,0,1,1052468,0,0,,,,,0,84576,0,0,0,58222,0,0 +17-43097327-T-C,17,43097327,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-38A>G,,c.548-38A>G,intron_variant,,,,1,760272,0.0000013153187280341772,0,0,,,0.673,,0.0100,-0.0100,-0.299,,,0,14244,0,0,0,894,0,0,0,4702,0,0,0,3302,0,0,0,244,0,0,0,1476,0,0,1,695422,0,0,,,,,0,15056,0,0,0,24932,0,0 +17-43097330-T-C,17,43097330,rs1377029950,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-41A>G,,c.548-41A>G,intron_variant,Likely benign,1275839,,2,1385130,0.0000014439077920483998,0,0,nfe,3.200000000000001e-7,7.53,,0.0100,0.0100,4.53,,,0,31718,0,0,0,44262,0,0,0,25616,0,0,0,39268,0,0,0,53282,0,0,0,5576,0,0,2,1043242,0,0,,,,,0,84342,0,0,0,57824,0,0 +17-43097335-A-G,17,43097335,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-46T>C,,c.548-46T>C,intron_variant,,,,1,1323936,7.553235201701593e-7,0,0,,,9.44,,0.00,0.00,0.375,,,0,30332,0,0,0,44018,0,0,0,25210,0,0,0,39024,0,0,0,53226,0,0,0,5458,0,0,1,987860,0,0,,,,,0,83160,0,0,0,55648,0,0 +17-43097336-T-C,17,43097336,rs1306426708,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-47A>G,,c.548-47A>G,intron_variant,,,,1,625460,0.000001598823266076168,0,0,,,4.18,,0.0100,-0.0400,-0.108,,,0,17376,0,0,0,42924,0,0,0,20886,0,0,1,35982,0,0,0,52956,0,0,0,4064,0,0,0,349374,0,0,,,,,0,68974,0,0,0,32924,0,0 +17-43097337-T-C,17,43097337,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-48A>G,,c.548-48A>G,intron_variant,,,,1,1289750,7.753440589261484e-7,0,0,,,6.33,,0.00,0.00,-0.600,,,0,29574,0,0,0,43822,0,0,0,24942,0,0,0,38858,0,0,0,53182,0,0,0,5384,0,0,1,957172,0,0,,,,,0,82282,0,0,0,54534,0,0 +17-43097342-G-T,17,43097342,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-53C>A,,c.548-53C>A,intron_variant,,,,1,1283898,7.78878072868717e-7,0,0,,,5.60,,0.00,0.00,0.184,,,0,29480,0,0,1,43734,0,0,0,24902,0,0,0,38842,0,0,0,53128,0,0,0,5342,0,0,0,952082,0,0,,,,,0,82074,0,0,0,54314,0,0 +17-43097343-G-C,17,43097343,rs1384309867,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-54C>G,,c.548-54C>G,intron_variant,Likely benign,631205,,7,1409292,0.00000496703309179361,0,0,afr,0.00000481,6.97,,0.00,0.00,-1.19,,,2,69016,0,0,0,57154,0,0,0,27924,0,0,0,43222,0,0,0,61812,0,0,0,5608,0,0,4,1002672,0,0,0,828,0,0,1,85278,0,0,0,55778,0,0 +17-43097343-G-A,17,43097343,rs1384309867,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-54C>T,,c.548-54C>T,intron_variant,Likely benign,628253,,4,1273042,0.0000031420801513225803,0,0,nfe,9.9e-7,7.33,,0.00,0.00,-1.19,,,0,29284,0,0,0,43660,0,0,0,24858,0,0,0,38802,0,0,0,53148,0,0,0,5326,0,0,4,942272,0,0,,,,,0,81776,0,0,0,53916,0,0 +17-43097344-G-C,17,43097344,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-55C>G,,c.548-55C>G,intron_variant,,,,1,1267726,7.888139866185596e-7,0,0,,,3.90,,0.00,0.00,-0.482,,,0,29166,0,0,0,43648,0,0,0,24824,0,0,0,38782,0,0,0,53150,0,0,0,5304,0,0,1,937308,0,0,,,,,0,81822,0,0,0,53722,0,0 +17-43097346-TA-T,17,43097346,rs8176144,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-58del,,c.548-58del,intron_variant,Benign,125889,,436324,1330490,0.32794233703372444,75741,0,sas,0.49248037,12.1,,0.00,0.0100,0.834,,,12219,69180,1137,0,18496,58606,2964,0,9851,27708,1752,0,15367,43524,2772,0,25272,63592,4999,0,1921,5322,378,0,293683,924382,47995,0,260,912,41,0,41860,84316,10749,0,17395,52948,2954,0 +17-43097347-A-T,17,43097347,rs201664159,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.548-58T>A,,c.548-58T>A,intron_variant,,,,1,75622,0.000013223665071011081,0,0,,,14.7,,0.00,0.00,3.44,,,1,27814,0,0,0,7076,0,0,0,1452,0,0,0,2068,0,0,0,3756,0,0,0,134,0,0,0,30592,0,0,0,472,0,0,0,1304,0,0,0,954,0,0 +17-43097353-A-G,17,43097353,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-64T>C,,c.548-64T>C,intron_variant,,,,1,1023726,9.76823876701383e-7,0,0,,,16.9,,0.00,-0.0100,2.57,,,0,26154,0,0,0,42628,0,0,0,22910,0,0,0,37066,0,0,0,51406,0,0,0,4506,0,0,1,719536,0,0,,,,,0,74176,0,0,0,45344,0,0 +17-43097353-AT-A,17,43097353,rs1567804376,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65del,,c.548-65del,intron_variant,,,,2,1023726,0.000001953647753402766,0,0,nfe,4.6000000000000004e-7,2.34,,0.00,0.0100,2.57,,,0,26154,0,0,0,42628,0,0,0,22910,0,0,0,37066,0,0,0,51406,0,0,0,4506,0,0,2,719536,0,0,,,,,0,74176,0,0,0,45344,0,0 +17-43097354-T-C,17,43097354,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65A>G,,c.548-65A>G,intron_variant,,,,4,1063454,0.000003761328651732938,0,0,sas,0.000017230000000000003,6.28,,0.00,-0.0100,-2.87,,,0,26302,0,0,0,43072,0,0,0,23416,0,0,0,37694,0,0,0,52464,0,0,0,4662,0,0,0,752658,0,0,,,,,4,76338,0,0,0,46848,0,0 +17-43097354-T-G,17,43097354,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-65A>C,,c.548-65A>C,intron_variant,,,,1,1063454,9.403321629332345e-7,0,0,,,6.04,,0.00,-0.0100,-2.87,,,1,26302,0,0,0,43072,0,0,0,23416,0,0,0,37694,0,0,0,52464,0,0,0,4662,0,0,0,752658,0,0,,,,,0,76338,0,0,0,46848,0,0 +17-43097355-G-A,17,43097355,rs758892386,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.548-66C>T,,c.548-66C>T,intron_variant,,,,3,1284088,0.000002336288478671244,0,0,nfe,3.7999999999999996e-7,7.47,,0.00,0.00,-1.66,,,0,68294,0,0,0,58560,0,0,0,27398,0,0,0,43326,0,0,0,63506,0,0,0,5216,0,0,2,882070,0,0,0,912,0,0,1,83484,0,0,0,51322,0,0 +17-43097356-T-A,17,43097356,rs2154522048,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-67A>T,,c.548-67A>T,intron_variant,,,,3,1134368,0.0000026446444187424185,0,0,nfe,9.799999999999997e-7,15.2,,0.00,-0.0100,-0.270,,,0,26900,0,0,0,43330,0,0,0,23976,0,0,0,38168,0,0,0,52958,0,0,0,4902,0,0,3,816050,0,0,,,,,0,78744,0,0,0,49340,0,0 +17-43097359-T-C,17,43097359,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-70A>G,,c.548-70A>G,intron_variant,,,,1,1118970,8.936790083737723e-7,0,0,,,13.2,,0.0200,-0.0400,0.220,,,0,26526,0,0,0,43378,0,0,0,23880,0,0,0,38106,0,0,0,52958,0,0,0,4840,0,0,0,801920,0,0,,,,,0,78538,0,0,1,48824,0,0 +17-43097361-G-T,17,43097361,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-72C>A,,c.548-72C>A,intron_variant,,,,2,454464,0.00000440078862132094,0,0,nfe,8e-7,1.61,,0.00,0.0100,-0.135,,,0,8392,0,0,0,494,0,0,0,2764,0,0,0,1972,0,0,0,134,0,0,0,890,0,0,2,416238,0,0,,,,,0,8822,0,0,0,14758,0,0 +17-43097364-G-A,17,43097364,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-75C>T,,c.548-75C>T,intron_variant,,,,1,1043782,9.580544596477041e-7,0,0,,,6.56,,0.00,0.0100,-0.321,,,0,24948,0,0,0,43230,0,0,0,23414,0,0,0,37744,0,0,0,52824,0,0,0,4596,0,0,1,733516,0,0,,,,,0,77058,0,0,0,46452,0,0 +17-43097364-G-T,17,43097364,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.548-75C>A,,c.548-75C>A,intron_variant,,,,1,1043782,9.580544596477041e-7,0,0,,,6.60,,0.00,0.0100,-0.321,,,0,24948,0,0,0,43230,0,0,0,23414,0,0,0,37744,0,0,0,52824,0,0,0,4596,0,0,1,733516,0,0,,,,,0,77058,0,0,0,46452,0,0 +17-43099700-A-C,17,43099700,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+75T>G,,c.547+75T>G,intron_variant,,,,1,617162,0.0000016203201104410188,0,0,,,5.76,,0.00,0.00,1.34,,,0,17208,0,0,0,42906,0,0,0,20586,0,0,0,35760,0,0,0,51914,0,0,0,3042,0,0,1,344792,0,0,,,,,0,68658,0,0,0,32296,0,0 +17-43099707-T-G,17,43099707,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+68A>C,,c.547+68A>C,intron_variant,,,,1,1207820,8.279379377721846e-7,0,0,,,7.88,,0.00,0.00,-0.586,,,0,27892,0,0,0,43468,0,0,0,24292,0,0,0,38290,0,0,0,52404,0,0,0,4336,0,0,0,885312,0,0,,,,,1,80138,0,0,0,51688,0,0 +17-43099707-T-C,17,43099707,rs760491174,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+68A>G,,c.547+68A>G,intron_variant,,,,148,1360042,0.00010882016878890504,0,0,nfe,0.00012738,8.20,,0.00,0.00,-0.586,,,0,69354,0,0,3,58730,0,0,0,27762,0,0,0,43498,0,0,0,63024,0,0,0,4652,0,0,141,953358,0,0,0,912,0,0,1,84970,0,0,3,53782,0,0 +17-43099708-T-C,17,43099708,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+67A>G,,c.547+67A>G,intron_variant,,,,1,594894,0.0000016809717361412286,0,0,,,3.16,,0.00,0.00,-0.116,,,0,10766,0,0,0,670,0,0,0,3736,0,0,0,2520,0,0,0,192,0,0,0,1162,0,0,1,544718,0,0,,,,,0,11666,0,0,0,19464,0,0 +17-43099710-G-T,17,43099710,rs2154527583,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+65C>A,,c.547+65C>A,intron_variant,,,,1,1238416,8.074831074533921e-7,0,0,,,1.23,,0.00,0.0100,0.805,,,0,28476,0,0,0,43448,0,0,0,24472,0,0,0,38412,0,0,0,52420,0,0,0,4444,0,0,1,913252,0,0,,,,,0,80772,0,0,0,52720,0,0 +17-43099711-CA-C,17,43099711,rs2154527591,CA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+63del,,c.547+63del,intron_variant,,,,3,1438742,0.0000020851549478641757,0,0,eas,0.00001815,4.05,,0.00,0.0100,1.02,,,0,71028,0,0,0,58810,0,0,0,28226,0,0,3,43846,0,0,0,63086,0,0,0,4846,0,0,0,1024958,0,0,0,910,0,0,0,86540,0,0,0,56492,0,0 +17-43099711-C-G,17,43099711,rs144033340,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+64G>C,,c.547+64G>C,intron_variant,Likely benign,1325673,,298,1438742,0.00020712539148784147,0,0,afr,0.0033616600000000007,5.77,,0.00,0.00,1.02,,,265,71028,0,0,8,58810,0,0,0,28226,0,0,0,43846,0,0,0,63086,0,0,1,4846,0,0,3,1024958,0,0,0,910,0,0,0,86540,0,0,21,56492,0,0 +17-43099711-C-T,17,43099711,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+64G>A,,c.547+64G>A,intron_variant,,,,1,1286540,7.772785921930138e-7,0,0,,,6.23,,0.00,0.00,1.02,,,0,29496,0,0,1,43536,0,0,0,24758,0,0,0,38658,0,0,0,52488,0,0,0,4552,0,0,0,956948,0,0,,,,,0,81720,0,0,0,54384,0,0 +17-43099715-A-G,17,43099715,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+60T>C,,c.547+60T>C,intron_variant,,,,1,1302818,7.675669203219483e-7,0,0,,,7.92,,0.00,0.00,0.972,,,0,29834,0,0,0,43834,0,0,0,24942,0,0,0,38776,0,0,0,52742,0,0,0,4748,0,0,1,970754,0,0,,,,,0,82228,0,0,0,54960,0,0 +17-43099716-CTA-C,17,43099716,,CTA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+57_547+58del,,c.547+57_547+58del,intron_variant,,,,2,773242,0.000002586512372581934,0,0,,,0.235,,0.00,0.0100,0.0100,,,1,58838,0,0,0,58426,0,0,0,24170,0,0,0,41078,0,0,0,63108,0,0,0,3776,0,0,0,414538,0,0,0,912,0,0,0,73716,0,0,1,34680,0,0 +17-43099717-T-C,17,43099717,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+58A>G,,c.547+58A>G,intron_variant,,,,1,621618,0.0000016087050246292739,0,0,,,1.30,,0.00,-0.0100,-0.492,,,0,17412,0,0,0,43178,0,0,0,20726,0,0,0,35884,0,0,0,52572,0,0,0,3506,0,0,0,346810,0,0,,,,,1,68918,0,0,0,32612,0,0 +17-43099718-A-G,17,43099718,rs1567805839,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+57T>C,,c.547+57T>C,intron_variant,,,,6,621826,0.000009649001489162563,0,0,nfe,0.0000072199999999999995,0.0400,,0.00,0.0100,-4.57,,,0,17402,0,0,0,43160,0,0,0,20738,0,0,0,35898,0,0,0,52596,0,0,0,3556,0,0,6,346902,0,0,,,,,0,68942,0,0,0,32632,0,0 +17-43099719-T-C,17,43099719,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+56A>G,,c.547+56A>G,intron_variant,,,,1,1313862,7.611149420563194e-7,0,0,,,4.07,,0.00,0.00,0.950,,,0,30126,0,0,0,43960,0,0,0,25062,0,0,0,38852,0,0,0,52826,0,0,0,4908,0,0,0,980226,0,0,,,,,1,82560,0,0,0,55342,0,0 +17-43099721-A-C,17,43099721,rs1233312587,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+54T>G,,c.547+54T>G,intron_variant,,,,1,623046,0.0000016050179280502563,0,0,,,8.16,,0.00,0.00,0.269,,,0,17450,0,0,0,43326,0,0,0,20788,0,0,0,35928,0,0,0,52688,0,0,0,3648,0,0,1,347430,0,0,,,,,0,69090,0,0,0,32698,0,0 +17-43099725-A-T,17,43099725,rs2154527649,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+50T>A,,c.547+50T>A,intron_variant,,,,1,624304,0.0000016017837463799688,0,0,,,5.14,,0.00,0.00,0.390,,,0,17504,0,0,0,43494,0,0,0,20834,0,0,0,35956,0,0,0,52772,0,0,0,3760,0,0,0,347948,0,0,,,,,1,69274,0,0,0,32762,0,0 +17-43099727-G-A,17,43099727,rs1323474725,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+48C>T,,c.547+48C>T,intron_variant,,,,5,1486708,0.0000033631351953443446,0,0,nfe,0.0000013700000000000002,2.74,,0.00,0.00,0.535,,,0,72070,0,0,0,59576,0,0,0,28728,0,0,0,44156,0,0,0,63570,0,0,0,5454,0,0,5,1066022,0,0,0,910,0,0,0,88082,0,0,0,58140,0,0 +17-43099729-A-G,17,43099729,rs770910897,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+46T>C,,c.547+46T>C,intron_variant,,,,5,710526,0.000007037040164610443,0,0,nfe,0.0000022500000000000005,8.22,,0.00,0.00,1.46,,,0,13162,0,0,0,830,0,0,0,4420,0,0,0,3044,0,0,0,234,0,0,0,1362,0,0,5,650212,0,0,,,,,0,13970,0,0,0,23292,0,0 +17-43099730-A-G,17,43099730,rs777639827,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+45T>C,,c.547+45T>C,intron_variant,,,,2,625320,0.000003198362438431523,0,0,sas,0.00000478,3.51,,0.00,0.00,0.209,,,0,17572,0,0,0,43582,0,0,0,20866,0,0,0,35968,0,0,0,52844,0,0,0,3858,0,0,0,348368,0,0,,,,,2,69422,0,0,0,32840,0,0 +17-43099732-C-T,17,43099732,rs746927911,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+43G>A,,c.547+43G>A,intron_variant,Likely benign,1325674,,25,1497044,0.000016699575964367112,0,0,nfe,0.00001046,1.59,,0.00,0.00,0.0460,,,0,72300,0,0,0,59700,0,0,5,28820,0,0,0,44218,0,0,0,63660,0,0,0,5590,0,0,18,1074910,0,0,0,910,0,0,0,88414,0,0,2,58522,0,0 +17-43099732-C-A,17,43099732,rs746927911,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+43G>T,,c.547+43G>T,intron_variant,,,,1,1344930,7.435331206828608e-7,0,0,,,1.20,,0.00,0.0100,0.0460,,,0,30872,0,0,0,44436,0,0,0,25352,0,0,0,39024,0,0,0,53068,0,0,0,5274,0,0,0,1006888,0,0,,,,,1,83582,0,0,0,56434,0,0 +17-43099733-CAG-C,17,43099733,rs757892853,CAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+40_547+41del,,c.547+40_547+41del,intron_variant,,,,34,1499114,0.00002268006302389278,0,0,nfe,3.1e-7,5.94,,0.00,0.0100,-0.822,,,0,72350,0,0,0,59702,0,0,0,28814,0,0,0,44238,0,0,30,63664,0,0,0,5612,0,0,2,1076770,0,0,0,912,0,0,0,88470,0,0,2,58582,0,0 +17-43099733-C-T,17,43099733,rs1273859752,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+42G>A,,c.547+42G>A,intron_variant,Likely benign,1325676,,43,1499114,0.000028683609118452634,0,0,sas,0.00022484,3.27,,0.00,0.00,-0.822,,,0,72350,0,0,0,59702,0,0,0,28814,0,0,0,44238,0,0,0,63664,0,0,3,5612,0,0,11,1076770,0,0,0,912,0,0,28,88470,0,0,1,58582,0,0 +17-43099734-A-G,17,43099734,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+41T>C,,c.547+41T>C,intron_variant,,,,1,625904,0.0000015976891024821697,0,0,,,9.36,,0.00,0.00,1.65,,,0,17598,0,0,0,43614,0,0,0,20882,0,0,0,35986,0,0,0,52852,0,0,0,3932,0,0,1,348628,0,0,,,,,0,69522,0,0,0,32890,0,0 +17-43099738-A-G,17,43099738,rs770897278,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+37T>C,,c.547+37T>C,intron_variant,,,,5,1361844,0.0000036714924763776176,0,0,sas,0.000023390000000000005,9.47,,0.00,-0.0100,0.580,,,0,31260,0,0,0,44486,0,0,0,25464,0,0,0,39154,0,0,0,53200,0,0,0,5418,0,0,0,1021804,0,0,,,,,5,84026,0,0,0,57032,0,0 +17-43099739-T-C,17,43099739,rs776203826,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+36A>G,,c.547+36A>G,intron_variant,,,,6,626518,0.00000957674001385435,0,0,sas,0.00003689999999999998,4.75,,0.00,-0.0100,0.0500,,,0,17618,0,0,0,43628,0,0,0,20892,0,0,0,35996,0,0,0,52950,0,0,0,4016,0,0,0,348872,0,0,,,,,6,69618,0,0,0,32928,0,0 +17-43099742-T-C,17,43099742,rs2054286469,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+33A>G,,c.547+33A>G,intron_variant,,,,1,626872,0.0000015952219910922805,0,0,,,7.72,,0.00,-0.0100,0.553,,,0,17634,0,0,0,43664,0,0,0,20912,0,0,0,36006,0,0,0,52976,0,0,0,4062,0,0,1,349024,0,0,,,,,0,69642,0,0,0,32952,0,0 +17-43099745-T-C,17,43099745,rs191034650,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+30A>G,,c.547+30A>G,intron_variant,,,,31,1530176,0.000020259107449077752,0,0,eas,0.00044684000000000027,2.20,,0.00,-0.0100,-1.26,,,0,73174,0,0,0,59824,0,0,0,29084,0,0,28,44452,0,0,0,63854,0,0,0,5830,0,0,2,1104130,0,0,0,912,0,0,1,89236,0,0,0,59680,0,0 +17-43099746-T-C,17,43099746,rs2054286686,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+29A>G,,c.547+29A>G,intron_variant,,,,1,627170,0.000001594464020919368,0,0,,,10.8,,0.00,0.00,1.67,,,0,17654,0,0,0,43678,0,0,0,20916,0,0,0,36014,0,0,0,53002,0,0,0,4102,0,0,0,349134,0,0,,,,,1,69702,0,0,0,32968,0,0 +17-43099747-A-G,17,43099747,rs2054286782,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+28T>C,,c.547+28T>C,intron_variant,,,,2,152206,0.000013140086461768918,0,0,afr,0.00000454,4.74,,0.00,-0.0100,0.609,,,2,41456,0,0,0,15278,0,0,0,3472,0,0,0,5204,0,0,0,10614,0,0,0,316,0,0,0,68032,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 +17-43099747-A-C,17,43099747,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+28T>G,,c.547+28T>G,intron_variant,,,,1,1382236,7.234654574182702e-7,0,0,,,4.57,,0.00,-0.0100,0.609,,,0,31700,0,0,0,44548,0,0,0,25634,0,0,0,39270,0,0,0,53256,0,0,0,5556,0,0,1,1040090,0,0,,,,,0,84490,0,0,0,57692,0,0 +17-43099751-A-T,17,43099751,rs80358130,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+24T>A,,c.547+24T>A,intron_variant,,,,1,769176,0.0000013000925665907413,0,0,,,9.95,,0.00,-0.0100,1.74,,,0,14352,0,0,0,882,0,0,0,4788,0,0,0,3316,0,0,0,260,0,0,0,1480,0,0,1,703794,0,0,,,,,0,15064,0,0,0,25240,0,0 +17-43099751-A-G,17,43099751,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+24T>C,,c.547+24T>C,intron_variant,,,,1,769176,0.0000013000925665907413,0,0,,,10.4,,0.00,-0.0100,1.74,,,0,14352,0,0,0,882,0,0,0,4788,0,0,0,3316,0,0,0,260,0,0,0,1480,0,0,1,703794,0,0,,,,,0,15064,0,0,0,25240,0,0 +17-43099752-C-T,17,43099752,rs1458290475,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+23G>A,,c.547+23G>A,intron_variant,,,,1,627468,0.0000015937067707038447,0,0,,,0.618,,0.00,0.00,-0.334,,,0,17668,0,0,0,43704,0,0,0,20932,0,0,1,36010,0,0,0,53014,0,0,0,4116,0,0,0,349312,0,0,,,,,0,69724,0,0,0,32988,0,0 +17-43099753-T-C,17,43099753,rs535382993,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+22A>G,,c.547+22A>G,intron_variant,,,,1,152348,0.000006563919447580539,0,0,,,6.49,,0.0100,-0.0400,0.689,,,1,41586,0,0,0,15302,0,0,0,3468,0,0,0,5194,0,0,0,10618,0,0,0,294,0,0,0,68028,0,0,0,912,0,0,0,4830,0,0,0,2116,0,0 +17-43099754-TAAA-T,17,43099754,rs1223085865,TAAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+18_547+20del,,c.547+18_547+20del,intron_variant,,,,1,1414684,7.068716405925281e-7,0,0,,,4.13,,0.0100,-0.0200,0.927,,,0,32410,0,0,0,44618,0,0,0,25804,0,0,0,39436,0,0,0,53288,0,0,0,5654,0,0,0,1069448,0,0,,,,,1,85198,0,0,0,58828,0,0 +17-43099754-T-TA,17,43099754,rs1223085865,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+20dup,,c.547+20dup,intron_variant,,,,2,1414684,0.0000014137432811850563,0,0,sas,0.0000039,6.04,,0.00,0.0100,0.927,,,0,32410,0,0,0,44618,0,0,0,25804,0,0,0,39436,0,0,0,53288,0,0,0,5654,0,0,0,1069448,0,0,,,,,2,85198,0,0,0,58828,0,0 +17-43099755-A-T,17,43099755,rs2054287186,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+20T>A,,c.547+20T>A,intron_variant,,,,1,152204,0.000006570129562954982,0,0,,,6.50,,0.0100,-0.0100,0.565,,,1,41454,0,0,0,15268,0,0,0,3472,0,0,0,5202,0,0,0,10628,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43099756-A-G,17,43099756,rs1248443594,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+19T>C,,c.547+19T>C,intron_variant,,,,1,152204,0.000006570129562954982,0,0,,,0.0880,,0.00,0.00,-1.16,,,1,41460,0,0,0,15270,0,0,0,3468,0,0,0,5208,0,0,0,10614,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43099759-A-C,17,43099759,rs1597887463,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.547+16T>G,,c.547+16T>G,intron_variant,Likely benign,766705,,1,152184,0.000006570993008463439,0,0,,,10.8,,0.00,-0.0100,2.85,,,1,41438,0,0,0,15268,0,0,0,3468,0,0,0,5204,0,0,0,10616,0,0,0,316,0,0,0,68036,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43099760-AC-A,17,43099760,rs273902771,AC,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+14del,,c.547+14del,intron_variant,Conflicting interpretations of pathogenicity,125880,,89,1579848,0.000056334533448787476,0,0,eas,0.00069476,0.206,,0.00,0.0100,-0.115,,,0,74220,0,0,0,59936,0,0,0,29378,0,0,41,44694,0,0,0,63954,0,0,0,5972,0,0,41,1149104,0,0,0,912,0,0,2,90292,0,0,5,61386,0,0 +17-43099761-C-G,17,43099761,rs932782447,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+14G>C,,c.547+14G>C,intron_variant,,,,1,627748,0.0000015929959155584725,0,0,,,0.500,,0.00,0.00,-0.0770,,,0,17674,0,0,0,43730,0,0,0,20944,0,0,0,35966,0,0,0,53074,0,0,0,4130,0,0,0,349446,0,0,,,,,1,69766,0,0,0,33018,0,0 +17-43099764-G-T,17,43099764,rs2054288146,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+11C>A,,c.547+11C>A,intron_variant,Likely benign,925029,,1,1435246,6.967446695549056e-7,0,0,,,6.55,,0.00,0.00,-0.146,,,0,32852,0,0,0,44674,0,0,0,25958,0,0,0,39554,0,0,0,53354,0,0,0,5708,0,0,0,1088012,0,0,,,,,0,85614,0,0,1,59520,0,0 +17-43099766-G-T,17,43099766,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+9C>A,,c.547+9C>A,intron_variant,,,,1,1437222,6.957867330168895e-7,0,0,,,8.08,,0.00,-0.0200,1.58,,,0,32880,0,0,0,44672,0,0,0,25966,0,0,0,39556,0,0,0,53362,0,0,0,5712,0,0,0,1089776,0,0,,,,,1,85692,0,0,0,59606,0,0 +17-43099767-A-C,17,43099767,rs762224894,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.547+8T>G,,c.547+8T>G,splice_region_variant,Benign/Likely benign,438941,,5,1590424,0.0000031438157371870648,0,0,afr,0.00001756,1.05,,0.00,-0.0100,-0.535,,,4,74316,0,0,0,59948,0,0,0,29436,0,0,0,44762,0,0,0,63986,0,0,0,6034,0,0,0,1158750,0,0,0,910,0,0,0,90564,0,0,1,61718,0,0 +17-43099768-C-T,17,43099768,rs772583635,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+7G>A,,c.547+7G>A,splice_region_variant,Likely benign,531461,,1,1441874,6.935418767520602e-7,0,0,,,0.0370,,0.00,0.00,-0.681,,,0,33014,0,0,0,44680,0,0,0,25982,0,0,0,39588,0,0,0,53362,0,0,0,5728,0,0,1,1093950,0,0,,,,,0,85810,0,0,0,59760,0,0 +17-43099768-C-G,17,43099768,rs772583635,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+7G>C,,c.547+7G>C,splice_region_variant,Likely benign,415567,,1,1441874,6.935418767520602e-7,0,0,,,0.0290,,0.00,0.00,-0.681,,,0,33014,0,0,0,44680,0,0,0,25982,0,0,0,39588,0,0,0,53362,0,0,0,5728,0,0,0,1093950,0,0,,,,,1,85810,0,0,0,59760,0,0 +17-43099769-C-T,17,43099769,rs1400635407,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+6G>A,,c.547+6G>A,intron_variant,Uncertain significance,924228,,1,628222,0.0000015917939836554593,0,0,,,1.81,,0.00,0.00,0.103,,,0,17680,0,0,0,43732,0,0,0,20962,0,0,1,36044,0,0,0,53094,0,0,0,4146,0,0,0,349744,0,0,,,,,0,69770,0,0,0,33050,0,0 +17-43099772-T-C,17,43099772,rs886040919,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+3A>G,,c.547+3A>G,intron_variant,,,,1,818362,0.0000012219531209904662,0,0,,,15.2,,0.100,-0.180,2.34,,,1,15422,0,0,0,960,0,0,0,5064,0,0,0,3568,0,0,0,268,0,0,0,1590,0,0,0,748514,0,0,,,,,0,16132,0,0,0,26844,0,0 +17-43099774-C-A,17,43099774,rs80358030,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.547+1G>T,,c.547+1G>T,splice_donor_variant,Pathogenic,55590,,2,820472,0.000002437621271658265,0,0,nfe,4.4e-7,33.0,,0.990,-0.880,8.90,,,0,15468,0,0,0,962,0,0,0,5078,0,0,0,3566,0,0,0,270,0,0,0,1592,0,0,2,750484,0,0,,,,,0,16166,0,0,0,26886,0,0 +17-43099776-C-T,17,43099776,rs1464752950,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu182Leu,p.Leu182Leu,c.546G>A,splice_region_variant,Likely benign,825760,,1,1450342,6.894925472750565e-7,0,0,,,12.4,,0.00,0.0100,2.25,,,0,33186,0,0,0,44688,0,0,0,26056,0,0,0,39642,0,0,0,53394,0,0,0,5736,0,0,1,1101674,0,0,,,,,0,85966,0,0,0,60000,0,0 +17-43099778-A-G,17,43099778,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu182Leu,p.Leu182Leu,c.544T>C,synonymous_variant,,,,1,823542,0.0000012142671533449418,0,0,,,2.34,,0.00,0.0100,-0.465,,,0,15544,0,0,0,966,0,0,0,5096,0,0,0,3592,0,0,0,270,0,0,0,1596,0,0,1,753268,0,0,,,,,0,16244,0,0,0,26966,0,0 +17-43099779-T-C,17,43099779,rs397507250,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu181Glu,p.Glu181Glu,c.543A>G,synonymous_variant,Likely benign,37671,,9,1604408,0.000005609545701592114,0,0,nfe,0.00000362,7.37,,0.0200,-0.0400,0.0350,,,0,74686,0,0,0,59980,0,0,0,29532,0,0,0,44858,0,0,0,63992,0,0,0,6060,0,0,9,1171376,0,0,0,912,0,0,0,90856,0,0,0,62156,0,0 +17-43099782-A-G,17,43099782,rs2154528027,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Ile,p.Ile180Ile,c.540T>C,synonymous_variant,Likely benign,1655387,,1,825382,0.0000012115602230240058,0,0,,,9.50,,0.00,0.00,2.28,,,0,15588,0,0,0,970,0,0,0,5108,0,0,0,3610,0,0,0,272,0,0,0,1604,0,0,1,754900,0,0,,,,,0,16282,0,0,0,27048,0,0 +17-43099783-A-G,17,43099783,rs1567805965,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Thr,p.Ile180Thr,c.539T>C,missense_variant,Uncertain significance,627936,,1,825800,0.000001210946960523129,0,0,,,24.4,0.675,0.00,0.00,4.72,0.00,0.468,0,15584,0,0,0,972,0,0,0,5108,0,0,0,3612,0,0,0,272,0,0,0,1600,0,0,1,755294,0,0,,,,,0,16288,0,0,0,27070,0,0 +17-43099784-T-G,17,43099784,rs1555594803,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile180Leu,p.Ile180Leu,c.538A>C,missense_variant,Uncertain significance,482943,,1,628394,0.0000015913582879530996,0,0,,,23.8,0.596,0.00,-0.0200,4.74,0.00,0.155,0,17684,0,0,0,43730,0,0,0,20966,0,0,0,36052,0,0,0,53124,0,0,0,4146,0,0,1,349824,0,0,,,,,0,69790,0,0,0,33078,0,0 +17-43099786-T-C,17,43099786,rs56187033,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr179Cys,p.Tyr179Cys,c.536A>G,missense_variant,Benign,37661,,542,1608112,0.00033704120111037044,8,0,amr,0.0002889300000000001,24.8,0.754,0.00,-0.0300,2.35,0.00,0.846,5,74878,0,0,25,60000,0,0,0,29562,0,0,1,44858,0,0,1,64030,0,0,112,6048,6,0,322,1174564,0,0,0,912,0,0,29,90962,2,0,47,62298,0,0 +17-43099787-A-G,17,43099787,rs587781761,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr179His,p.Tyr179His,c.535T>C,missense_variant,Uncertain significance,141458,,12,1608308,0.000007461257420842276,0,0,nfe,0.00000545,24.9,0.657,0.00,-0.0200,4.72,0.00,0.804,0,74740,0,0,0,59990,0,0,0,29562,0,0,0,44870,0,0,0,64024,0,0,0,6072,0,0,12,1174894,0,0,0,912,0,0,0,90970,0,0,0,62274,0,0 +17-43099789-A-T,17,43099789,rs876660085,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val178Asp,p.Val178Asp,c.533T>A,missense_variant,Uncertain significance,232937,,1,1456860,6.864077536619853e-7,0,0,,,25.0,0.757,0.00,0.0200,6.33,0.00,0.196,0,33336,0,0,0,44714,0,0,0,26100,0,0,0,39668,0,0,0,53402,0,0,0,5756,0,0,0,1107506,0,0,,,,,0,86158,0,0,1,60220,0,0 +17-43099790-C-G,17,43099790,rs1259369962,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val178Leu,p.Val178Leu,c.532G>C,missense_variant,Uncertain significance,479255,,2,980910,0.0000020389230408498233,0,0,,,22.5,0.612,0.00,-0.0100,4.28,0.0100,0.0340,0,57082,0,0,0,16248,0,0,0,8604,0,0,1,8824,0,0,0,10872,0,0,0,1926,0,0,0,825984,0,0,0,912,0,0,0,21204,0,0,1,29254,0,0 +17-43099792-G-C,17,43099792,rs753940026,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser177Cys,p.Ser177Cys,c.530C>G,missense_variant,Uncertain significance,187240,,2,780614,0.000002562085742761467,0,0,,,24.4,0.663,0.0100,-0.0200,4.94,0.0100,0.894,0,59124,0,0,0,59010,0,0,0,24438,0,0,1,41256,0,0,0,63740,0,0,0,4462,0,0,1,417892,0,0,0,910,0,0,0,74610,0,0,0,35172,0,0 +17-43099794-C-T,17,43099794,rs34545365,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr176Thr,p.Thr176Thr,c.528G>A,synonymous_variant,Likely benign,136538,,85,1610252,0.000052786768779048247,0,0,afr,0.0003452200000000002,5.72,,0.0100,-0.0200,0.0530,,,35,74894,0,0,18,59988,0,0,0,29578,0,0,0,44868,0,0,0,64002,0,0,0,6056,0,0,30,1176580,0,0,0,912,0,0,1,90992,0,0,1,62382,0,0 +17-43099795-G-A,17,43099795,rs587782747,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr176Met,p.Thr176Met,c.527C>T,missense_variant,Uncertain significance,409326,,4,1458456,0.0000027426264487924214,0,0,sas,0.00000385,22.8,0.542,0.0100,-0.0300,1.85,0.00,0.0820,0,33378,0,0,1,44712,0,0,0,26110,0,0,0,39672,0,0,0,53396,0,0,0,5762,0,0,1,1108954,0,0,,,,,2,86184,0,0,0,60288,0,0 +17-43099799-T-G,17,43099799,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys175Gln,p.Lys175Gln,c.523A>C,missense_variant,,,,1,831262,0.000001202990152322613,0,0,,,21.2,0.508,0.00,0.00,2.90,0.0100,0.00100,0,15726,0,0,0,982,0,0,0,5150,0,0,0,3620,0,0,0,274,0,0,0,1616,0,0,1,760226,0,0,,,,,0,16420,0,0,0,27248,0,0 +17-43099800-T-C,17,43099800,rs765432756,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln174Gln,p.Gln174Gln,c.522A>G,synonymous_variant,Likely benign,184034,,25,1612114,0.000015507588173044834,0,0,nfe,0.00001456,1.57,,0.00,0.0100,-1.48,,,0,74870,0,0,0,59992,0,0,0,29588,0,0,0,44888,0,0,0,64020,0,0,0,6078,0,0,25,1178300,0,0,0,912,0,0,0,91046,0,0,0,62420,0,0 +17-43099801-TG-T,17,43099801,rs80357639,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln174LysfsTer60,p.Gln174LysfsTer60,c.520del,frameshift_variant,Pathogenic,55460,,2,1459364,0.0000013704600086064888,0,0,nfe,2.999999999999999e-7,24.9,,0.00,-0.0400,0.211,,,0,33418,0,0,0,44718,0,0,0,26112,0,0,0,39664,0,0,0,53382,0,0,0,5758,0,0,2,1109782,0,0,,,,,0,86214,0,0,0,60316,0,0 +17-43099803-A-T,17,43099803,rs876659179,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173Pro,p.Pro173Pro,c.519T>A,synonymous_variant,Likely benign,231469,,2,1460324,0.0000013695590841484493,0,0,sas,0.00000385,8.35,,0.00,-0.0100,1.30,,,0,33426,0,0,0,44716,0,0,0,26120,0,0,0,39686,0,0,0,53408,0,0,0,5766,0,0,0,1110636,0,0,,,,,2,86226,0,0,0,60340,0,0 +17-43099804-G-C,17,43099804,rs2054293926,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173Arg,p.Pro173Arg,c.518C>G,missense_variant,,,,1,831910,0.0000012020531067062542,0,0,,,23.4,0.545,0.00,0.0100,3.82,0.0100,0.105,0,15744,0,0,0,982,0,0,0,5146,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,760818,0,0,,,,,1,16436,0,0,0,27262,0,0 +17-43099805-GT-G,17,43099805,rs879254223,GT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172HisfsTer62,p.Gln172HisfsTer62,c.516del,frameshift_variant,Pathogenic,246360,,1,1460756,6.845770272379508e-7,0,0,,,6.48,,0.00,-0.0300,0.878,,,0,33448,0,0,0,44718,0,0,0,26126,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111024,0,0,,,,,1,86234,0,0,0,60350,0,0 +17-43099805-G-GTTGT,17,43099805,,G,GTTGT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro173ThrfsTer10,p.Pro173ThrfsTer10,c.513_516dup,frameshift_variant,,,,1,1460756,6.845770272379508e-7,0,0,,,19.7,,0.0100,-0.0900,0.878,,,0,33448,0,0,0,44718,0,0,0,26126,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,1,1111024,0,0,,,,,0,86234,0,0,0,60350,0,0 +17-43099806-T-C,17,43099806,rs752940034,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Gln,p.Gln172Gln,c.516A>G,synonymous_variant,Likely benign,427332,,2,628548,0.0000031819367812800294,0,0,eas,0.00000919,0.675,,0.00,0.00,-1.45,,,0,17684,0,0,0,43736,0,0,0,20974,0,0,2,36056,0,0,0,53134,0,0,0,4148,0,0,0,349936,0,0,,,,,0,69796,0,0,0,33084,0,0 +17-43099807-T-C,17,43099807,rs1555594863,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Arg,p.Gln172Arg,c.515A>G,missense_variant,Uncertain significance,482899,,3,1461062,0.0000020533009550587177,0,0,nfe,2.999999999999999e-7,12.6,0.573,0.00,0.0100,1.33,0.540,0.806,0,33450,0,0,0,44718,0,0,0,26126,0,0,0,39684,0,0,0,53410,0,0,0,5766,0,0,2,1111298,0,0,,,,,0,86244,0,0,1,60366,0,0 +17-43099807-TG-T,17,43099807,rs80357872,TG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln172AsnfsTer62,p.Gln172AsnfsTer62,c.514del,frameshift_variant,Pathogenic,55421,,3,1613276,0.0000018595702161316477,0,0,,,22.1,,0.00,-0.0400,1.33,,,0,74906,0,0,0,59992,0,0,0,29598,0,0,0,44890,0,0,0,64034,0,0,0,6082,0,0,2,1179328,0,0,0,912,0,0,0,91076,0,0,1,62458,0,0 +17-43099808-G-A,17,43099808,rs80356947,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln172Ter,p.Gln172Ter,c.514C>T,stop_gained,Pathogenic,55420,,1,1460986,6.84469255694442e-7,0,0,,,33.0,,0.0300,-0.190,2.79,,,0,33452,0,0,0,44718,0,0,0,26124,0,0,0,39684,0,0,0,53404,0,0,0,5766,0,0,1,1111224,0,0,,,,,0,86248,0,0,0,60366,0,0 +17-43099809-T-C,17,43099809,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Met,p.Ile171Met,c.513A>G,missense_variant,,,,2,1461158,0.0000013687773669924814,0,0,nfe,2.999999999999999e-7,3.29,0.652,0.00,0.00,-0.767,0.0900,0.453,0,33454,0,0,0,44720,0,0,0,26126,0,0,0,39688,0,0,0,53406,0,0,0,5766,0,0,2,1111378,0,0,,,,,0,86246,0,0,0,60374,0,0 +17-43099811-T-C,17,43099811,rs777515082,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Val,p.Ile171Val,c.511A>G,missense_variant,Likely benign,431182,,1,1461278,6.843324815675046e-7,0,0,,,0.600,0.547,0.0200,-0.0400,0.117,1.00,0.0240,0,33462,0,0,0,44718,0,0,0,26126,0,0,0,39688,0,0,0,53410,0,0,0,5764,0,0,0,1111484,0,0,,,,,1,86250,0,0,0,60376,0,0 +17-43099811-T-G,17,43099811,rs777515082,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile171Leu,p.Ile171Leu,c.511A>C,missense_variant,Uncertain significance,2094438,,2,1461278,0.0000013686649631350092,0,0,,,3.79,0.475,0.00,-0.0100,0.117,0.310,0.0240,0,33462,0,0,0,44718,0,0,0,26126,0,0,0,39688,0,0,0,53410,0,0,0,5764,0,0,1,1111484,0,0,,,,,0,86250,0,0,1,60376,0,0 +17-43099813-C-T,17,43099813,rs80357264,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg170Gln,p.Arg170Gln,c.509G>A,missense_variant,Conflicting interpretations of pathogenicity,55400,,25,1613504,0.000015494228709690215,0,0,nfe,0.0000103,2.98,0.484,0.0200,-0.0500,0.762,1.00,0.00,2,74884,0,0,0,59984,0,0,0,29598,0,0,0,44896,0,0,1,64010,0,0,1,6082,0,0,19,1179594,0,0,0,912,0,0,1,91072,0,0,1,62472,0,0 +17-43099814-G-T,17,43099814,rs80357325,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg170Arg,p.Arg170Arg,c.508C>A,synonymous_variant,Likely benign,825426,,1,1461236,6.84352151192552e-7,0,0,,,6.24,,0.0200,-0.0400,2.85,,,0,33458,0,0,0,44718,0,0,0,26124,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,0,1111462,0,0,,,,,1,86244,0,0,0,60374,0,0 +17-43099814-G-A,17,43099814,rs80357325,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg170Trp,p.Arg170Trp,c.508C>T,missense_variant,Benign,55393,,18,1461236,0.000012318338721465936,0,0,nfe,0.00000653,18.8,0.482,0.0300,-0.0600,2.85,0.0300,0.00,1,33458,0,0,1,44718,0,0,0,26124,0,0,0,39686,0,0,3,53406,0,0,0,5764,0,0,13,1111462,0,0,,,,,0,86244,0,0,0,60374,0,0 +17-43099815-C-G,17,43099815,rs759882045,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169His,p.Gln169His,c.507G>C,missense_variant,,,,1,1461460,6.842472595897254e-7,0,0,,,6.33,0.594,0.00,-0.0100,0.399,0.0800,0.0170,0,33464,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5766,0,0,0,1111646,0,0,,,,,1,86254,0,0,0,60376,0,0 +17-43099815-C-T,17,43099815,rs759882045,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169Gln,p.Gln169Gln,c.507G>A,synonymous_variant,Likely benign,185706,,28,1461460,0.00001915892326851231,0,0,afr,0.00002376,2.87,,0.00,0.00,0.399,,,3,33464,0,0,0,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5766,0,0,25,1111646,0,0,,,,,0,86254,0,0,0,60376,0,0 +17-43099817-G-A,17,43099817,rs80357133,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln169Ter,p.Gln169Ter,c.505C>T,stop_gained,Pathogenic,55367,,1,628578,0.0000015908924588515665,0,0,,,35.0,,0.0700,-0.260,2.29,,,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36056,0,0,0,53136,0,0,0,4148,0,0,0,349956,0,0,,,,,1,69794,0,0,0,33084,0,0 +17-43099819-T-G,17,43099819,rs273901743,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys168Thr,p.Lys168Thr,c.503A>C,missense_variant,Uncertain significance,55359,,3,628598,0.00000477252552505735,0,0,afr,0.00004583,18.7,0.838,0.00,0.00,1.84,0.0800,0.0310,3,17690,0,0,0,43738,0,0,0,20978,0,0,0,36060,0,0,0,53140,0,0,0,4148,0,0,0,349960,0,0,,,,,0,69796,0,0,0,33088,0,0 +17-43099824-C-G,17,43099824,rs1474499188,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg166Ser,p.Arg166Ser,c.498G>C,missense_variant,Conflicting interpretations of pathogenicity,1020068,,1,1461586,6.841882721919887e-7,0,0,,,25.9,0.606,0.0100,-0.0300,3.50,0.00,0.0120,0,33470,0,0,0,44722,0,0,0,26128,0,0,1,39688,0,0,0,53416,0,0,0,5768,0,0,0,1111758,0,0,,,,,0,86250,0,0,0,60386,0,0 +17-43099824-C-T,17,43099824,rs1474499188,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg166Arg,p.Arg166Arg,c.498G>A,synonymous_variant,Likely benign,2102276,,2,1461586,0.0000013683765443839773,0,0,,,13.1,,0.00,-0.0200,3.50,,,0,33470,0,0,1,44722,0,0,0,26128,0,0,0,39688,0,0,0,53416,0,0,0,5768,0,0,1,1111758,0,0,,,,,0,86250,0,0,0,60386,0,0 +17-43099827-C-T,17,43099827,rs745321499,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Leu,p.Leu165Leu,c.495G>A,synonymous_variant,Likely benign,415587,,2,1461596,0.0000013683671821761965,0,0,,,10.5,,0.00,-0.0200,2.94,,,0,33468,0,0,0,44722,0,0,0,26130,0,0,1,39692,0,0,0,53416,0,0,0,5768,0,0,1,1111764,0,0,,,,,0,86254,0,0,0,60382,0,0 +17-43099828-A-G,17,43099828,rs2154528996,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Pro,p.Leu165Pro,c.494T>C,missense_variant,Uncertain significance,1175105,,4,1461588,0.000002736749343864345,0,0,nfe,8.4e-7,16.0,0.638,0.0100,0.00,-0.131,0.220,0.862,0,33468,0,0,0,44722,0,0,0,26130,0,0,0,39688,0,0,0,53416,0,0,0,5768,0,0,4,1111754,0,0,,,,,0,86258,0,0,0,60384,0,0 +17-43099829-G-C,17,43099829,rs1597887932,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu165Val,p.Leu165Val,c.493C>G,missense_variant,Uncertain significance,825313,,3,1461598,0.00000205254796462502,0,0,nfe,7.200000000000001e-7,15.5,0.574,0.00,0.00,0.828,0.370,0.549,0,33468,0,0,0,44722,0,0,0,26130,0,0,0,39692,0,0,0,53416,0,0,0,5768,0,0,3,1111766,0,0,,,,,0,86252,0,0,0,60384,0,0 +17-43099830-A-C,17,43099830,rs2154529054,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr164Thr,p.Thr164Thr,c.492T>G,synonymous_variant,Likely benign,1125055,,1,832968,0.000001200526310734626,0,0,,,7.71,,0.0100,0.0100,-0.722,,,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761774,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43099831-G-A,17,43099831,rs1555594889,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr164Ile,p.Thr164Ile,c.491C>T,missense_variant,Uncertain significance,482962,,1,1461564,6.841985708460252e-7,0,0,,,20.4,0.519,0.00,-0.0100,4.74,0.00,0.0150,0,33468,0,0,0,44720,0,0,0,26128,0,0,0,39692,0,0,0,53414,0,0,0,5766,0,0,1,1111742,0,0,,,,,0,86250,0,0,0,60384,0,0 +17-43099834-C-G,17,43099834,rs1369043501,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg163Thr,p.Arg163Thr,c.488G>C,missense_variant,Uncertain significance,531359,,4,780888,0.000005122373502986344,0,0,nfe,8e-7,22.2,0.590,0.00,0.0200,1.62,0.0100,0.119,0,59260,0,0,1,59032,0,0,0,24450,0,0,0,41258,0,0,0,63742,0,0,0,4442,0,0,2,417984,0,0,0,912,0,0,0,74610,0,0,1,35198,0,0 +17-43099836-C-T,17,43099836,rs769213707,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Val162Val,p.Val162Val,c.486G>A,synonymous_variant,Conflicting interpretations of pathogenicity,422724,,1,152236,0.000006568748522031582,0,0,,,9.16,,0.00,0.0200,2.50,,,1,41468,0,0,0,15284,0,0,0,3470,0,0,0,5206,0,0,0,10628,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43099838-C-G,17,43099838,rs55816927,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val162Leu,p.Val162Leu,c.484G>C,missense_variant,Conflicting interpretations of pathogenicity,55303,,6,780824,0.000007684190035142363,0,0,nfe,0.0000045,18.7,0.580,0.00,-0.0200,0.215,0.210,0.230,1,59146,0,0,0,59018,0,0,0,24448,0,0,0,41268,0,0,0,63766,0,0,0,4462,0,0,5,418006,0,0,0,912,0,0,0,74618,0,0,0,35180,0,0 +17-43099839-A-G,17,43099839,rs1060504575,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr161Thr,p.Thr161Thr,c.483T>C,synonymous_variant,Likely benign,415581,,3,832968,0.000003601578932203878,0,0,nfe,0.00000105,10.9,,0.0100,0.0100,1.51,,,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,3,761778,0,0,,,,,0,16456,0,0,0,27296,0,0 +17-43099840-G-C,17,43099840,rs876660138,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr161Ser,p.Thr161Ser,c.482C>G,missense_variant,Uncertain significance,1493878,,1,1461536,6.842116786723009e-7,0,0,,,17.4,0.529,0.00,-0.0200,1.74,0.0100,0.00700,0,33464,0,0,0,44722,0,0,0,26126,0,0,1,39690,0,0,0,53414,0,0,0,5766,0,0,0,1111712,0,0,,,,,0,86258,0,0,0,60384,0,0 +17-43099843-C-T,17,43099843,rs1016051167,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly160Glu,p.Gly160Glu,c.479G>A,missense_variant,,,,1,628582,0.000001590882335160727,0,0,,,24.9,0.605,0.00,-0.0300,3.45,0.0200,0.779,0,17688,0,0,0,43736,0,0,0,20972,0,0,0,36064,0,0,0,53138,0,0,0,4146,0,0,1,349958,0,0,,,,,0,69792,0,0,0,33088,0,0 +17-43099844-C-T,17,43099844,rs62625285,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly160Arg,p.Gly160Arg,c.478G>A,missense_variant,Uncertain significance,233928,,13,1461494,0.00000889500743759468,0,0,nfe,0.00000652,30.0,0.621,0.190,0.400,5.95,0.0100,0.880,0,33466,0,0,0,44722,0,0,0,26120,0,0,0,39692,0,0,0,53410,0,0,0,5764,0,0,13,1111690,0,0,,,,,0,86250,0,0,0,60380,0,0 +17-43099845-A-G,17,43099845,rs779704727,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu159Leu,p.Leu159Leu,c.477T>C,synonymous_variant,Likely benign,427331,,1,628574,0.0000015909025826712528,0,0,,,11.5,,0.00,0.0100,2.28,,,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36060,0,0,0,53138,0,0,0,4144,0,0,1,349950,0,0,,,,,0,69798,0,0,0,33084,0,0 +17-43099846-A-C,17,43099846,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu159Arg,p.Leu159Arg,c.476T>G,missense_variant,,,,1,832900,0.0000012006243246488174,0,0,,,23.4,0.589,0.00,0.0200,0.514,0.00,0.133,0,15778,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761708,0,0,,,,,0,16458,0,0,0,27296,0,0 +17-43099848-G-A,17,43099848,rs2054302112,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn158Asn,p.Asn158Asn,c.474C>T,synonymous_variant,,,,1,152172,0.000006571511184712037,0,0,,,8.65,,0.00,-0.0100,0.912,,,0,41456,0,0,1,15268,0,0,0,3468,0,0,0,5206,0,0,0,10614,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43099851-A-G,17,43099851,rs2154529469,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser157Ser,p.Ser157Ser,c.471T>C,synonymous_variant,,,,1,1460820,6.845470352267904e-7,0,0,,,9.67,,0.00,0.0200,1.81,,,0,33452,0,0,0,44716,0,0,0,26124,0,0,0,39688,0,0,0,53394,0,0,0,5766,0,0,1,1111094,0,0,,,,,0,86236,0,0,0,60350,0,0 +17-43099852-G-C,17,43099852,rs80357045,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser157Cys,p.Ser157Cys,c.470C>G,missense_variant,Uncertain significance,55266,,10,1613540,0.000006197553205994274,0,0,nfe,0.00000429,22.4,0.632,0.0100,0.00,5.80,0.0500,0.846,0,74912,0,0,0,59998,0,0,0,29598,0,0,0,44900,0,0,0,64028,0,0,0,6082,0,0,10,1179566,0,0,0,912,0,0,0,91080,0,0,0,62464,0,0 +17-43099854-G-C,17,43099854,rs748923729,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu156Leu,p.Leu156Leu,c.468C>G,synonymous_variant,Likely benign,415569,,8,1461274,0.000005474674838531309,0,0,nfe,0.0000026200000000000003,2.60,,0.0100,0.0200,0.696,,,0,33462,0,0,0,44716,0,0,0,26126,0,0,0,39694,0,0,0,53412,0,0,0,5766,0,0,7,1111484,0,0,,,,,0,86238,0,0,1,60376,0,0 +17-43099856-G-T,17,43099856,rs587778115,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu156Ile,p.Leu156Ile,c.466C>A,missense_variant,Uncertain significance,233464,,3,628558,0.000004772829237715533,0,0,,,19.3,0.498,0.00,0.0100,1.60,0.0100,0.164,0,17688,0,0,0,43732,0,0,0,20978,0,0,0,36066,0,0,0,53136,0,0,2,4146,0,0,1,349932,0,0,,,,,0,69798,0,0,0,33082,0,0 +17-43099857-T-C,17,43099857,rs864622260,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155Gln,p.Gln155Gln,c.465A>G,synonymous_variant,Likely benign,1106075,,1,1461222,6.84358707985508e-7,0,0,,,1.34,,0.0100,0.0100,-0.791,,,0,33456,0,0,0,44712,0,0,0,26124,0,0,0,39696,0,0,0,53408,0,0,0,5766,0,0,1,1111440,0,0,,,,,0,86252,0,0,0,60368,0,0 +17-43099857-T-A,17,43099857,rs864622260,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln155His,p.Gln155His,c.465A>T,missense_variant,Uncertain significance,232297,,1,152170,0.0000065715975553657095,0,0,,,6.50,0.510,0.00,0.0100,-0.791,,,0,41436,0,0,1,15276,0,0,0,3472,0,0,0,5198,0,0,0,10610,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4828,0,0,0,2088,0,0 +17-43099857-T-G,17,43099857,rs864622260,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155His,p.Gln155His,c.465A>C,missense_variant,Uncertain significance,219804,,1,1461222,6.84358707985508e-7,0,0,,,6.79,0.510,0.00,0.0100,-0.791,0.0400,0.00,0,33456,0,0,0,44712,0,0,0,26124,0,0,0,39696,0,0,0,53408,0,0,0,5766,0,0,1,1111440,0,0,,,,,0,86252,0,0,0,60368,0,0 +17-43099859-G-C,17,43099859,rs80357180,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln155Glu,p.Gln155Glu,c.463C>G,missense_variant,Benign,55247,,13,1460984,0.000008898112504996632,0,0,nfe,0.00000653,14.3,0.469,0.0100,0.0200,3.48,0.0800,0.00,0,33458,0,0,0,44716,0,0,0,26122,0,0,0,39696,0,0,0,53404,0,0,0,5766,0,0,13,1111236,0,0,,,,,0,86230,0,0,0,60356,0,0 +17-43099862-C-T,17,43099862,rs1064793318,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val154Ile,p.Val154Ile,c.460G>A,missense_variant,Uncertain significance,418595,,1,1460816,6.845489096504967e-7,0,0,,,14.3,0.513,0.00,0.0100,2.86,0.0500,0.0570,0,33450,0,0,0,44716,0,0,0,26122,0,0,1,39690,0,0,0,53410,0,0,0,5764,0,0,0,1111068,0,0,,,,,0,86240,0,0,0,60356,0,0 +17-43099863-A-G,17,43099863,rs1555594962,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser153Ser,p.Ser153Ser,c.459T>C,synonymous_variant,Likely benign,496385,,1,628536,0.000001590998765384958,0,0,,,4.35,,0.00,0.0300,0.364,,,0,17688,0,0,0,43734,0,0,0,20974,0,0,0,36062,0,0,0,53134,0,0,0,4148,0,0,0,349916,0,0,,,,,0,69798,0,0,1,33082,0,0 +17-43099865-T-C,17,43099865,rs28897674,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser153Gly,p.Ser153Gly,c.457A>G,missense_variant,Uncertain significance,96934,,4,1460478,0.0000027388293421742743,0,0,nfe,7.200000000000001e-7,2.46,0.602,0.00,0.0200,0.229,0.840,0.162,0,33438,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53400,0,0,1,5766,0,0,3,1110776,0,0,,,,,0,86232,0,0,0,60350,0,0 +17-43099865-T-G,17,43099865,rs28897674,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser153Arg,p.Ser153Arg,c.457A>C,missense_variant,Conflicting interpretations of pathogenicity,37600,,60,1612720,0.000037204226400119055,0,0,nfe,0.00003344,18.7,0.631,0.00,0.0200,0.229,0.0400,0.462,0,74906,0,0,0,59992,0,0,0,29588,0,0,0,44886,0,0,0,64028,0,0,0,6082,0,0,51,1178818,0,0,0,912,0,0,0,91068,0,0,9,62440,0,0 +17-43099867-A-G,17,43099867,rs80357275,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu152Pro,p.Leu152Pro,c.455T>C,missense_variant,Conflicting interpretations of pathogenicity,55227,,10,1612714,0.0000062007274693467035,0,0,nfe,0.0000035900000000000004,21.3,0.568,0.00,0.0300,0.992,0.0500,0.806,1,74900,0,0,0,59984,0,0,0,29590,0,0,0,44882,0,0,0,64032,0,0,0,6080,0,0,9,1178838,0,0,0,912,0,0,0,91064,0,0,0,62432,0,0 +17-43099868-G-T,17,43099868,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu152Ile,p.Leu152Ile,c.454C>A,missense_variant,,,,1,1460402,6.847429680320898e-7,0,0,,,20.6,0.361,0.0100,0.00,2.95,0.0100,0.468,0,33442,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,1,1110698,0,0,,,,,0,86220,0,0,0,60356,0,0 +17-43099868-G-C,17,43099868,rs41286288,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu152Val,p.Leu152Val,c.454C>G,missense_variant,,,,1,1460402,6.847429680320898e-7,0,0,,,20.6,0.394,0.0300,0.0400,2.95,0.0200,0.392,0,33442,0,0,0,44714,0,0,0,26116,0,0,0,39686,0,0,0,53406,0,0,0,5764,0,0,0,1110698,0,0,,,,,0,86220,0,0,1,60356,0,0 +17-43099876-T-G,17,43099876,rs397507233,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu149Ala,p.Glu149Ala,c.446A>C,missense_variant,Conflicting interpretations of pathogenicity,37594,,16,1610368,0.000009935617200540497,0,0,eas,0.00020580999999999998,24.3,0.544,0.00,-0.0200,3.00,0.120,0.297,0,74852,0,0,0,59986,0,0,0,29586,0,0,15,44876,0,0,0,64030,0,0,0,6070,0,0,0,1176662,0,0,0,912,0,0,0,91020,0,0,1,62374,0,0 +17-43099880-G-T,17,43099880,rs876659614,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln148Lys,p.Gln148Lys,c.442C>A,missense_variant,Uncertain significance,233408,,1,152202,0.000006570215897294385,0,0,,,22.7,0.517,0.00,0.340,8.80,0.200,0.344,1,41452,0,0,0,15280,0,0,0,3470,0,0,0,5204,0,0,0,10602,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43099881-C-A,17,43099881,rs1351019392,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-1G>T,,c.442-1G>T,splice_acceptor_variant,Conflicting interpretations of pathogenicity,462651,lof_flag,3,1606432,0.0000018674926794286966,0,0,amr,0.00001328,24.1,,0.980,-0.820,1.80,,,0,74750,0,0,3,59958,0,0,0,29568,0,0,0,44854,0,0,0,64008,0,0,0,6062,0,0,0,1173156,0,0,0,910,0,0,0,90942,0,0,0,62224,0,0 +17-43099882-TA-T,17,43099882,rs273900733,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-3del,,c.442-3del,splice_region_variant,Conflicting interpretations of pathogenicity,125866,,2,1453288,0.0000013761897160094902,0,0,nfe,2.999999999999999e-7,14.0,,0.0900,-0.200,2.31,,,0,33290,0,0,0,44688,0,0,0,26088,0,0,0,39650,0,0,0,53382,0,0,0,5746,0,0,2,1104268,0,0,,,,,0,86088,0,0,0,60088,0,0 +17-43099883-A-C,17,43099883,rs8176139,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-3T>G,,c.442-3T>G,splice_region_variant,Uncertain significance,485396,,1,1453086,6.881905131561381e-7,0,0,,,23.6,,0.860,-0.800,1.06,,,0,33326,0,0,0,44690,0,0,0,26084,0,0,0,39634,0,0,0,53370,0,0,0,5748,0,0,1,1104048,0,0,,,,,0,86090,0,0,0,60096,0,0 +17-43099883-A-G,17,43099883,rs8176139,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-3T>C,,c.442-3T>C,splice_region_variant,Uncertain significance,409351,,2,1605314,0.0000012458621802338982,0,0,,,14.6,,0.0300,0.180,1.06,,,2,74800,0,0,0,59964,0,0,0,29556,0,0,0,44836,0,0,0,63998,0,0,0,6064,0,0,0,1172072,0,0,0,912,0,0,0,90926,0,0,0,62186,0,0 +17-43099890-A-G,17,43099890,rs200991398,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-10T>C,,c.442-10T>C,intron_variant,Likely benign,462650,,1,152336,0.000006564436508770087,0,0,,,9.29,,0.0100,0.100,4.05,,,1,41574,0,0,0,15294,0,0,0,3472,0,0,0,5192,0,0,0,10622,0,0,0,294,0,0,0,68032,0,0,0,912,0,0,0,4828,0,0,0,2116,0,0 +17-43099891-T-C,17,43099891,rs777009084,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-11A>G,,c.442-11A>G,intron_variant,Likely benign,1100503,,3,1444506,0.0000020768345718190164,0,0,nfe,7.3e-7,2.04,,0.00,0.0400,-0.0440,,,0,33090,0,0,0,44670,0,0,0,26032,0,0,0,39582,0,0,0,53360,0,0,0,5724,0,0,3,1096320,0,0,,,,,0,85878,0,0,0,59850,0,0 +17-43099892-G-A,17,43099892,rs759612271,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-12C>T,,c.442-12C>T,intron_variant,Likely benign,1605493,,1,1438282,6.952739448870249e-7,0,0,,,2.83,,0.00,0.0400,1.24,,,0,32946,0,0,0,44658,0,0,0,26000,0,0,1,39536,0,0,0,53342,0,0,0,5718,0,0,0,1090732,0,0,,,,,0,85742,0,0,0,59608,0,0 +17-43099893-G-C,17,43099893,rs2054309198,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-13C>G,,c.442-13C>G,intron_variant,Uncertain significance,949318,,1,1432764,6.979516514931977e-7,0,0,,,17.6,,0.840,-0.720,0.354,,,0,32844,0,0,0,44650,0,0,0,25964,0,0,0,39516,0,0,0,53330,0,0,0,5708,0,0,1,1085646,0,0,,,,,0,85688,0,0,0,59418,0,0 +17-43099894-T-C,17,43099894,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-14A>G,,c.442-14A>G,intron_variant,,,,1,1434066,6.973179756022387e-7,0,0,,,5.75,,0.00,0.0400,0.179,,,0,32872,0,0,0,44658,0,0,0,25972,0,0,0,39520,0,0,0,53342,0,0,0,5712,0,0,0,1086830,0,0,,,,,0,85690,0,0,1,59470,0,0 +17-43099897-A-C,17,43099897,rs1555595010,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-17T>G,,c.442-17T>G,intron_variant,,,,1,627892,0.0000015926305797812364,0,0,,,14.3,,0.0400,0.240,4.56,,,0,17674,0,0,0,43710,0,0,0,20954,0,0,1,36026,0,0,0,53066,0,0,0,4144,0,0,0,349492,0,0,,,,,0,69780,0,0,0,33046,0,0 +17-43099902-A-T,17,43099902,rs1210972484,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-22T>A,,c.442-22T>A,intron_variant,,,,1,1421184,7.036386562190399e-7,0,0,,,2.50,,0.0400,0.100,-0.250,,,0,32612,0,0,0,44636,0,0,0,25898,0,0,0,39416,0,0,0,53328,0,0,0,5684,0,0,0,1075126,0,0,,,,,1,85422,0,0,0,59062,0,0 +17-43099904-T-G,17,43099904,rs1183837444,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-24A>C,,c.442-24A>C,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,11.0,,0.120,-0.200,4.20,,,1,41432,0,0,0,15278,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68022,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 +17-43099905-C-A,17,43099905,rs2154530167,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-25G>T,,c.442-25G>T,intron_variant,,,,1,627464,0.0000015937169303736947,0,0,,,1.78,,0.0100,-0.0500,1.52,,,0,17662,0,0,0,43692,0,0,0,20932,0,0,0,36012,0,0,0,53034,0,0,0,4140,0,0,0,349290,0,0,,,,,1,69676,0,0,0,33026,0,0 +17-43099907-A-C,17,43099907,rs1255456130,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-27T>G,,c.442-27T>G,intron_variant,,,,11,779756,0.000014106977054360595,0,0,amr,0.00010369999999999999,6.80,,0.0400,0.0900,1.47,,,0,59132,0,0,11,58984,0,0,0,24398,0,0,0,41212,0,0,0,63664,0,0,0,4454,0,0,0,417300,0,0,0,912,0,0,0,74586,0,0,0,35114,0,0 +17-43099908-G-T,17,43099908,rs2054310246,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-28C>A,,c.442-28C>A,intron_variant,,,,1,1384126,7.224775779083696e-7,0,0,,,0.975,,0.00,0.0200,1.49,,,0,31810,0,0,0,44576,0,0,0,25648,0,0,0,39214,0,0,0,53236,0,0,0,5616,0,0,1,1041538,0,0,,,,,0,84658,0,0,0,57830,0,0 +17-43099909-C-T,17,43099909,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-29G>A,,c.442-29G>A,intron_variant,,,,2,627184,0.0000031888568585933314,0,0,nfe,9.5e-7,1.06,,0.00,0.00,-0.858,,,0,17654,0,0,0,43676,0,0,0,20928,0,0,0,35996,0,0,0,53000,0,0,0,4136,0,0,2,349058,0,0,,,,,0,69730,0,0,0,33006,0,0 +17-43099910-A-G,17,43099910,rs2054310383,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-30T>C,,c.442-30T>C,intron_variant,,,,1,627332,0.0000015940522721621088,0,0,,,6.80,,0.0300,0.110,1.09,,,0,17656,0,0,0,43688,0,0,0,20930,0,0,0,36000,0,0,0,53014,0,0,0,4136,0,0,1,349164,0,0,,,,,0,69736,0,0,0,33008,0,0 +17-43099911-A-G,17,43099911,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-31T>C,,c.442-31T>C,intron_variant,,,,1,627136,0.0000015945504643330953,0,0,,,6.38,,0.0400,0.0900,0.472,,,0,17646,0,0,0,43682,0,0,1,20920,0,0,0,35994,0,0,0,52990,0,0,0,4138,0,0,0,349032,0,0,,,,,0,69732,0,0,0,33002,0,0 +17-43099914-G-A,17,43099914,rs799923,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-34C>T,,c.442-34C>T,intron_variant,Benign,125864,,314168,1516640,0.20714737841544467,35728,0,nfe,0.2344552,0.328,,0.00,0.00,-0.546,,,2845,72970,75,0,6501,59826,415,0,7421,28944,937,0,29,44330,0,0,11796,63720,1103,0,1334,5880,151,0,256797,1091736,30142,0,165,908,16,0,15883,89062,1666,0,11397,59264,1223,0 +17-43099914-G-T,17,43099914,rs799923,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-34C>A,,c.442-34C>A,intron_variant,Uncertain significance,918518,,2,1366098,0.0000014640238108832602,0,0,,,0.432,,0.0100,0.0300,-0.546,,,0,31422,0,0,0,44542,0,0,0,25492,0,0,1,39144,0,0,0,53172,0,0,0,5592,0,0,1,1025262,0,0,,,,,0,84274,0,0,0,57198,0,0 +17-43099915-T-C,17,43099915,rs1219418966,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-35A>G,,c.442-35A>G,intron_variant,,,,2,626514,0.0000031922670522925265,0,0,,,1.50,,0.0100,0.0200,-0.357,,,0,17646,0,0,0,43686,0,0,0,20886,0,0,1,35994,0,0,0,52928,0,0,0,4136,0,0,1,348582,0,0,,,,,0,69698,0,0,0,32958,0,0 +17-43099916-T-G,17,43099916,rs1264366114,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-36A>C,,c.442-36A>C,intron_variant,,,,3,778458,0.000003853772457858998,0,0,amr,0.00001351,5.07,,0.00,0.0200,0.930,,,0,59090,0,0,3,58950,0,0,0,24346,0,0,0,41190,0,0,0,63526,0,0,0,4450,0,0,0,416462,0,0,0,912,0,0,0,74518,0,0,0,35014,0,0 +17-43099917-G-A,17,43099917,rs1200121055,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-37C>T,,c.442-37C>T,intron_variant,,,,5,1485964,0.000003364819066949132,0,0,nfe,0.0000013800000000000001,5.68,,0.00,0.00,1.64,,,0,72464,0,0,0,59776,0,0,0,28724,0,0,0,44202,0,0,0,63706,0,0,0,5864,0,0,5,1063498,0,0,0,912,0,0,0,88476,0,0,0,58342,0,0 +17-43099918-G-T,17,43099918,rs1488130257,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-38C>A,,c.442-38C>A,intron_variant,,,,4,1485740,0.00000269226109548104,0,0,nfe,3.1e-7,4.61,,0.0200,0.0500,0.998,,,0,72464,0,0,0,59754,0,0,0,28716,0,0,0,44232,0,0,0,63706,0,0,2,5854,0,0,2,1063282,0,0,0,912,0,0,0,88518,0,0,0,58302,0,0 +17-43099920-C-T,17,43099920,rs752813317,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-40G>A,,c.442-40G>A,intron_variant,,,,4,1316792,0.0000030376855266435396,0,0,nfe,9.6e-7,0.361,,0.00,0.0200,-0.929,,,0,30650,0,0,0,44462,0,0,0,25166,0,0,0,38930,0,0,0,53084,0,0,0,5504,0,0,4,980128,0,0,,,,,0,83260,0,0,0,55608,0,0 +17-43099923-T-A,17,43099923,rs2154530266,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-43A>T,,c.442-43A>T,intron_variant,,,,1,1288464,7.761179202523315e-7,0,0,,,5.66,,0.00,0.0100,-0.0710,,,0,29994,0,0,0,44414,0,0,0,24960,0,0,0,38770,0,0,0,52998,0,0,0,5456,0,0,1,954530,0,0,,,,,0,82726,0,0,0,54616,0,0 +17-43099925-C-T,17,43099925,rs2154530273,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-45G>A,,c.442-45G>A,intron_variant,,,,1,1289134,7.757145494572325e-7,0,0,,,4.78,,0.00,0.0100,0.464,,,0,29976,0,0,0,44396,0,0,0,24954,0,0,0,38768,0,0,0,52982,0,0,0,5458,0,0,1,955248,0,0,,,,,0,82704,0,0,0,54648,0,0 +17-43099926-T-C,17,43099926,rs1426777259,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-46A>G,,c.442-46A>G,intron_variant,,,,3,1444388,0.0000020770042398579885,0,0,,,7.98,,0.0100,0.0600,0.868,,,0,71648,0,0,0,59722,0,0,0,28448,0,0,1,43976,0,0,0,63630,0,0,0,5762,0,0,0,1025814,0,0,0,912,0,0,0,87616,0,0,2,56860,0,0 +17-43099929-G-A,17,43099929,rs763155937,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-49C>T,,c.442-49C>T,intron_variant,,,,3,1262592,0.000002376064476885645,0,0,amr,0.00001794,5.57,,0.00,0.0100,0.830,,,0,29418,0,0,3,44342,0,0,0,24766,0,0,0,38618,0,0,0,52872,0,0,0,5426,0,0,0,931274,0,0,,,,,0,82212,0,0,0,53664,0,0 +17-43099929-G-T,17,43099929,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-49C>A,,c.442-49C>A,intron_variant,,,,1,1262588,7.920240014953413e-7,0,0,,,4.81,,0.00,0.0200,0.830,,,0,29418,0,0,0,44342,0,0,0,24766,0,0,0,38618,0,0,0,52872,0,0,0,5426,0,0,1,931270,0,0,,,,,0,82212,0,0,0,53664,0,0 +17-43099930-C-T,17,43099930,rs1174795969,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-50G>A,,c.442-50G>A,intron_variant,,,,6,1249790,0.000004800806535497963,0,0,sas,0.000023830000000000004,0.778,,0.00,0.00,-0.882,,,0,29160,0,0,0,44314,0,0,0,24686,0,0,0,38562,0,0,0,52802,0,0,0,5400,0,0,1,919776,0,0,,,,,5,81918,0,0,0,53172,0,0 +17-43099937-T-C,17,43099937,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-57A>G,,c.442-57A>G,intron_variant,,,,5,1192534,0.000004192752575607907,0,0,nfe,0.0000016899999999999997,3.64,,0.00,0.0300,0.0410,,,0,28032,0,0,0,44220,0,0,0,24260,0,0,0,38272,0,0,0,52640,0,0,0,5288,0,0,5,868012,0,0,,,,,0,80582,0,0,0,51228,0,0 +17-43099938-C-G,17,43099938,rs1489415451,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-58G>C,,c.442-58G>C,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,5.30,,0.00,0.0100,0.197,,,0,41440,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43099938-C-T,17,43099938,rs1489415451,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.442-58G>A,,c.442-58G>A,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,5.76,,0.00,0.0100,0.197,,,0,41440,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10606,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43099941-G-T,17,43099941,rs2054311864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-61C>A,,c.442-61C>A,intron_variant,,,,1,1150980,8.688248275382718e-7,0,0,,,0.130,,0.00,0.0300,-0.658,,,1,27164,0,0,0,44142,0,0,0,23954,0,0,0,38032,0,0,0,52468,0,0,0,5202,0,0,0,830472,0,0,,,,,0,79698,0,0,0,49848,0,0 +17-43099941-G-GA,17,43099941,rs2054311963,G,GA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-62dup,,c.442-62dup,intron_variant,,,,2,1303180,0.0000015347074080326585,0,0,,,4.52,,0.110,0.260,-0.658,,,2,68606,0,0,0,59406,0,0,0,27426,0,0,0,43234,0,0,0,63094,0,0,0,5518,0,0,0,898516,0,0,0,912,0,0,0,84530,0,0,0,51938,0,0 +17-43099941-G-A,17,43099941,rs2054311864,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-61C>T,,c.442-61C>T,intron_variant,,,,1,1150982,8.688233178277332e-7,0,0,,,0.199,,0.00,0.0200,-0.658,,,0,27164,0,0,0,44142,0,0,0,23954,0,0,0,38032,0,0,0,52468,0,0,0,5202,0,0,1,830474,0,0,,,,,0,79698,0,0,0,49848,0,0 +17-43099943-A-G,17,43099943,rs2054312067,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-63T>C,,c.442-63T>C,intron_variant,,,,2,1137558,0.0000017581521118044092,0,0,,,8.78,,0.0100,0.0100,0.838,,,0,26838,0,0,0,44110,0,0,0,23890,0,0,0,37936,0,0,0,52396,0,0,0,5176,0,0,0,818446,0,0,,,,,1,79424,0,0,1,49342,0,0 +17-43099944-G-A,17,43099944,rs2054312183,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.442-64C>T,,c.442-64C>T,intron_variant,,,,3,1262224,0.0000023767572158349074,0,0,,,1.65,,0.0500,0.110,0.294,,,1,67732,0,0,0,59340,0,0,0,27158,0,0,0,42970,0,0,0,62860,0,0,0,5442,0,0,2,861620,0,0,0,912,0,0,0,83664,0,0,0,50526,0,0 +17-43099948-A-AAGGG,17,43099948,,A,AAGGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-69_442-68insCCCT,,c.442-69_442-68insCCCT,intron_variant,,,,2,1054796,0.0000018961012366372265,0,0,sas,0.00000427,3.75,,0.0100,0.0400,0.923,,,0,25260,0,0,0,43964,0,0,0,23282,0,0,0,37482,0,0,0,52080,0,0,0,5006,0,0,0,743390,0,0,,,,,2,77740,0,0,0,46592,0,0 +17-43099950-C-G,17,43099950,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-70G>C,,c.442-70G>C,intron_variant,,,,1,1042638,9.591056531605408e-7,0,0,,,7.14,,0.310,0.370,2.07,,,0,25024,0,0,0,43930,0,0,0,23182,0,0,0,37432,0,0,0,51940,0,0,0,4980,0,0,1,732466,0,0,,,,,0,77484,0,0,0,46200,0,0 +17-43099950-C-A,17,43099950,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.442-70G>T,,c.442-70G>T,intron_variant,,,,2,1042638,0.0000019182113063210817,0,0,sas,0.00000428,7.71,,0.420,0.440,2.07,,,0,25024,0,0,0,43930,0,0,0,23182,0,0,0,37432,0,0,0,51940,0,0,0,4980,0,0,0,732466,0,0,,,,,2,77484,0,0,0,46200,0,0 +17-43104047-G-C,17,43104047,rs2154548059,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+75C>G,,c.441+75C>G,intron_variant,,,,1,1378840,7.252473093324824e-7,0,0,,,4.12,,0.00,0.00,0.337,,,0,30312,0,0,0,39352,0,0,0,25114,0,0,0,39122,0,0,0,43608,0,0,0,4566,0,0,0,1057822,0,0,,,,,1,81616,0,0,0,57328,0,0 +17-43104047-G-T,17,43104047,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+75C>A,,c.441+75C>A,intron_variant,,,,5,1378828,0.000003626268105956653,0,0,sas,0.000023900000000000005,3.98,,0.00,0.00,0.337,,,0,30312,0,0,0,39352,0,0,0,25114,0,0,0,39122,0,0,0,43608,0,0,0,4566,0,0,0,1057816,0,0,,,,,5,81610,0,0,0,57328,0,0 +17-43104050-T-A,17,43104050,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+72A>T,,c.441+72A>T,intron_variant,,,,42,1373204,0.000030585404644903454,0,0,amr,0.00015469999999999997,4.92,,0.00,0.00,0.272,,,0,30010,0,0,13,37070,0,0,3,24936,0,0,0,39126,0,0,16,43202,0,0,0,4552,0,0,7,1056434,0,0,,,,,0,80780,0,0,3,57094,0,0 +17-43104051-C-G,17,43104051,rs1567809719,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+71G>C,,c.441+71G>C,intron_variant,,,,1,1379948,7.24664987376336e-7,0,0,,,3.16,,0.00,0.00,0.340,,,0,30480,0,0,0,39502,0,0,0,25148,0,0,0,39220,0,0,0,44068,0,0,0,4646,0,0,0,1058112,0,0,,,,,0,81310,0,0,1,57462,0,0 +17-43104054-T-C,17,43104054,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+68A>G,,c.441+68A>G,intron_variant,,,,2,1366776,0.0000014632975703407142,0,0,nfe,3.200000000000001e-7,4.82,,0.00,0.00,0.272,,,0,29790,0,0,0,37730,0,0,0,24784,0,0,0,38938,0,0,0,43740,0,0,0,4622,0,0,2,1050094,0,0,,,,,0,80248,0,0,0,56830,0,0 +17-43104055-C-G,17,43104055,rs1459256031,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+67G>C,,c.441+67G>C,intron_variant,,,,1,1368250,7.308605883427736e-7,0,0,,,2.49,,0.00,0.00,0.340,,,1,30094,0,0,0,39046,0,0,0,24872,0,0,0,38958,0,0,0,43984,0,0,0,4666,0,0,0,1049406,0,0,,,,,0,80324,0,0,0,56900,0,0 +17-43104056-TC-T,17,43104056,rs1176931997,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+65del,,c.441+65del,intron_variant,,,,3,1342458,0.0000022347067841228554,0,0,nfe,7.3e-7,0.233,,0.00,-0.0200,0.272,,,0,29704,0,0,0,37952,0,0,0,24438,0,0,0,38490,0,0,0,43076,0,0,0,4612,0,0,3,1028282,0,0,,,,,0,80008,0,0,0,55896,0,0 +17-43104057-CA-C,17,43104057,rs72434991,CA,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+64del,,c.441+64del,intron_variant,Benign,983028,,64224,120264,0.5340251446817003,16451,0,afr,0.6741060300000001,0.362,,0.00,0.00,-0.550,,,26108,34674,9428,0,5643,11406,1110,0,1246,2894,209,0,2104,4218,458,0,3214,6306,647,0,129,234,27,0,22311,54202,3704,0,249,650,36,0,2345,4000,637,0,875,1680,195,0 +17-43104057-C-CAAAAAAAA,17,43104057,,C,CAAAAAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+57_441+64dup,,c.441+57_441+64dup,intron_variant,,,,1,1179398,8.47890194828209e-7,0,0,,,0.378,,0.00,0.00,-0.550,,,0,24740,0,0,0,33402,0,0,0,21532,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,1,903242,0,0,,,,,0,71170,0,0,0,49228,0,0 +17-43104057-C-CAA,17,43104057,,C,CAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+63_441+64dup,,c.441+63_441+64dup,intron_variant,,,,83,1177338,0.00007049802180852058,0,0,sas,0.00005265999999999998,0.429,,0.00,0.00,-0.550,,,3,24730,0,0,5,33342,0,0,3,21496,0,0,0,34094,0,0,4,37832,0,0,0,4034,0,0,57,901596,0,0,,,,,8,71084,0,0,3,49130,0,0 +17-43104057-C-CA,17,43104057,rs72434991,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+64dup,,c.441+64dup,intron_variant,,,,33482,1229174,0.027239430707125274,1,0,nfe,0.03000017,0.440,,0.00,0.00,-0.550,,,583,59290,1,0,896,43032,0,0,605,23194,0,0,778,36802,0,0,870,42560,0,0,72,4138,0,0,27238,898894,0,0,0,648,0,0,1075,72406,0,0,1365,48210,0,0 +17-43104057-CAA-C,17,43104057,rs72434991,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+63_441+64del,,c.441+63_441+64del,intron_variant,,,,2970,1284456,0.002312262934658719,1,0,sas,0.00392522,1.25,,0.00,0.00,-0.550,,,252,58650,0,0,124,44302,0,0,62,24108,0,0,106,37778,0,0,162,43660,0,0,14,4212,0,0,1785,947642,1,0,0,650,0,0,316,73198,0,0,149,50256,0,0 +17-43104057-CAAAAAAAAAAAAG-C,17,43104057,rs1422993794,CAAAAAAAAAAAAG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+64del,,c.441+52_441+64del,intron_variant,,,,3,1300130,0.0000023074615615361542,0,0,,,1.60,,0.00,0.00,-0.550,,,2,59422,0,0,0,44840,0,0,0,24434,0,0,0,38386,0,0,0,44252,0,0,0,4290,0,0,1,957738,0,0,0,650,0,0,0,75220,0,0,0,50898,0,0 +17-43104057-C-CAAA,17,43104057,,C,CAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+62_441+64dup,,c.441+62_441+64dup,intron_variant,,,,1,1179310,8.479534643138785e-7,0,0,,,0.420,,0.00,0.00,-0.550,,,0,24740,0,0,0,33400,0,0,0,21526,0,0,0,34142,0,0,0,37898,0,0,0,4036,0,0,1,903174,0,0,,,,,0,71170,0,0,0,49224,0,0 +17-43104057-C-A,17,43104057,rs1409351516,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+65G>T,,c.441+65G>T,intron_variant,,,,2,1179390,0.0000016957918924189623,0,0,amr,0.00008841999999999997,0.556,,0.00,-0.0200,-0.550,,,0,24740,0,0,1,33400,0,0,0,21530,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,1,903240,0,0,,,,,0,71168,0,0,0,49228,0,0 +17-43104057-C-G,17,43104057,rs1409351516,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+65G>C,,c.441+65G>C,intron_variant,,,,2,120786,0.000016558210388621197,0,0,eas,0.00008340999999999999,0.605,,0.00,-0.0300,-0.550,,,0,34756,0,0,0,11452,0,0,0,2902,0,0,2,4230,0,0,0,6350,0,0,0,234,0,0,0,54492,0,0,0,650,0,0,0,4032,0,0,0,1688,0,0 +17-43104057-CAAA-C,17,43104057,rs72434991,CAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+62_441+64del,,c.441+62_441+64del,intron_variant,,,,16,1299760,0.000012309964916599987,0,0,sas,0.00001741,1.88,,0.00,0.00,-0.550,,,1,59410,0,0,0,44828,0,0,2,24430,0,0,0,38374,0,0,3,44236,0,0,0,4290,0,0,4,957454,0,0,0,650,0,0,4,75206,0,0,2,50882,0,0 +17-43104057-CAAAAAAA-C,17,43104057,,CAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+58_441+64del,,c.441+58_441+64del,intron_variant,,,,1,1179398,8.47890194828209e-7,0,0,,,1.75,,0.00,0.00,-0.550,,,0,24740,0,0,0,33402,0,0,0,21532,0,0,0,34144,0,0,0,37902,0,0,0,4038,0,0,0,903242,0,0,,,,,0,71170,0,0,1,49228,0,0 +17-43104058-AAAAAAAAAAAAG-A,17,43104058,rs536390258,AAAAAAAAAAAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+63del,,c.441+52_441+63del,intron_variant,Benign,264809,,663,699006,0.0009484897125346563,2,0,afr,0.011751359999999985,1.63,,0.00,0.00,-0.727,,,310,23964,1,0,14,18124,0,0,4,8582,0,0,4,10154,0,0,3,14684,0,0,1,1528,0,0,286,579580,0,0,0,858,0,0,21,20014,1,0,20,21518,0,0 +17-43104059-A-AAAAAAAAAAAG,17,43104059,rs869087267,A,AAAAAAAAAAAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+62dup,,c.441+52_441+62dup,intron_variant,,,,1,601246,0.0000016632127282343666,0,0,,,1.77,,0.00,-0.0100,0.271,,,0,10852,0,0,0,17378,0,0,0,10682,0,0,0,15890,0,0,0,17650,0,0,0,1816,0,0,1,477542,0,0,,,,,0,25078,0,0,0,24358,0,0 +17-43104059-AAAAAAAAAAAG-A,17,43104059,rs869087267,AAAAAAAAAAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+52_441+62del,,c.441+52_441+62del,intron_variant,,,,23,721250,0.00003188908145580589,0,0,afr,0.00002714,1.67,,0.00,0.00,0.271,,,3,29282,0,0,1,30584,0,0,0,13912,0,0,1,20502,0,0,2,27096,0,0,0,2074,0,0,14,541322,0,0,0,870,0,0,1,29556,0,0,1,26052,0,0 +17-43104060-AAAAAAAAAAG-A,17,43104060,rs1567809750,AAAAAAAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+61del,,c.441+52_441+61del,intron_variant,,,,87,657194,0.0001323810016524801,0,0,sas,0.00009914999999999997,1.70,,0.00,-0.0100,0.271,,,1,18796,0,0,2,20200,0,0,0,11588,0,0,1,18658,0,0,2,19332,0,0,1,2100,0,0,68,510880,0,0,,,,,7,28120,0,0,5,27520,0,0 +17-43104066-AAAAGAAAAAAAAAAGAAAAG-A,17,43104066,rs1406492448,AAAAGAAAAAAAAAAGAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+36_441+55del,,c.441+36_441+55del,intron_variant,,,,1,665720,0.0000015021330289010395,0,0,,,1.98,,0.00,0.0100,0.248,,,0,19444,0,0,1,20336,0,0,0,11698,0,0,0,18884,0,0,0,20226,0,0,0,2306,0,0,0,516674,0,0,,,,,0,28276,0,0,0,27876,0,0 +17-43104066-A-G,17,43104066,rs2054606112,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+56T>C,,c.441+56T>C,intron_variant,,,,1,146452,0.000006828175784557398,0,0,nfe,0.00002473,2.63,,0.00,0.00,0.248,,,0,40186,0,0,0,14884,0,0,0,3284,0,0,0,5014,0,0,0,9808,0,0,0,302,0,0,1,65348,0,0,0,874,0,0,0,4730,0,0,0,2022,0,0 +17-43104067-A-G,17,43104067,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+55T>C,,c.441+55T>C,intron_variant,,,,2,665844,0.0000030037065739122076,0,0,,,5.12,,0.00,0.00,0.248,,,1,19442,0,0,0,20308,0,0,0,11688,0,0,0,18880,0,0,0,20328,0,0,0,2314,0,0,1,516750,0,0,,,,,0,28264,0,0,0,27870,0,0 +17-43104067-AAAG-A,17,43104067,rs1567809775,AAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52_441+54del,,c.441+52_441+54del,intron_variant,,,,1,665860,0.0000015018171988105609,0,0,,,1.39,,0.00,0.00,0.248,,,0,19442,0,0,1,20308,0,0,0,11690,0,0,0,18880,0,0,0,20328,0,0,0,2314,0,0,0,516762,0,0,,,,,0,28264,0,0,0,27872,0,0 +17-43104068-A-G,17,43104068,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+54T>C,,c.441+54T>C,intron_variant,,,,12,663682,0.000018080948406013723,0,0,afr,0.000042289999999999997,4.72,,0.00,0.00,0.242,,,3,19216,0,0,0,20222,0,0,0,11686,0,0,1,18846,0,0,1,20248,0,0,0,2320,0,0,5,515150,0,0,,,,,0,28222,0,0,2,27772,0,0 +17-43104068-A-AG,17,43104068,,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+53_441+54insC,,c.441+53_441+54insC,intron_variant,,,,2,663816,0.00000301288308808465,0,0,,,1.58,,0.00,0.00,0.242,,,0,19228,0,0,1,20224,0,0,0,11688,0,0,0,18850,0,0,0,20260,0,0,0,2320,0,0,1,515242,0,0,,,,,0,28224,0,0,0,27780,0,0 +17-43104069-A-G,17,43104069,rs975355778,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+53T>C,,c.441+53T>C,intron_variant,,,,12,144454,0.000083071427582483,0,0,afr,0.001192,4.80,,0.00,0.00,0.244,,,11,38492,0,0,1,14788,0,0,0,3282,0,0,0,4994,0,0,0,9746,0,0,0,300,0,0,0,65254,0,0,0,876,0,0,0,4722,0,0,0,2000,0,0 +17-43104069-A-T,17,43104069,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+53T>A,,c.441+53T>A,intron_variant,,,,4,647506,0.000006177548933909492,0,0,nfe,0.0000018599999999999998,4.19,,0.00,0.00,0.244,,,0,16404,0,0,0,19916,0,0,0,11544,0,0,0,18412,0,0,0,20104,0,0,0,2276,0,0,4,503882,0,0,,,,,0,27968,0,0,0,27000,0,0 +17-43104069-AG-A,17,43104069,rs373202012,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52del,,c.441+52del,intron_variant,,,,44,647344,0.00006797004374799179,0,0,amr,0.00022094999999999998,0.313,,0.00,0.00,0.244,,,2,16390,0,0,13,19914,0,0,0,11542,0,0,1,18406,0,0,9,20082,0,0,2,2276,0,0,14,503778,0,0,,,,,0,27966,0,0,3,26990,0,0 +17-43104070-G-GAA,17,43104070,,G,GAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+50_441+51dup,,c.441+50_441+51dup,intron_variant,,,,4,567592,0.000007047315677458456,0,0,nfe,7.600000000000001e-7,1.31,,0.00,0.00,-0.807,,,0,14476,0,0,0,17562,0,0,1,10298,0,0,0,16622,0,0,1,17574,0,0,0,2022,0,0,2,438176,0,0,,,,,0,27242,0,0,0,23620,0,0 +17-43104070-GAAAAAAAAAAGAA-G,17,43104070,,GAAAAAAAAAAGAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+39_441+51del,,c.441+39_441+51del,intron_variant,,,,1,567704,0.0000017614813353437708,0,0,,,1.63,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,0,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,1,438264,0,0,,,,,0,27242,0,0,0,23632,0,0 +17-43104070-G-T,17,43104070,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+52C>A,,c.441+52C>A,intron_variant,,,,2,567696,0.0000035230123164510584,0,0,nfe,7.600000000000001e-7,0.671,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,0,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,2,438256,0,0,,,,,0,27242,0,0,0,23632,0,0 +17-43104070-GA-G,17,43104070,rs921962743,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51del,,c.441+51del,intron_variant,Likely benign,1299767,,3837,703890,0.005451135830882667,5,0,nfe,0.0065744,1.05,,0.00,0.00,-0.807,,,33,50444,0,0,67,31542,0,0,46,13498,0,0,6,21382,0,0,33,26440,0,0,7,2288,0,0,3384,500188,5,0,0,828,0,0,164,31790,0,0,97,25490,0,0 +17-43104070-GAAAAAA-G,17,43104070,,GAAAAAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+46_441+51del,,c.441+46_441+51del,intron_variant,,,,3,567704,0.000005284444006031312,0,0,nfe,7.600000000000001e-7,1.28,,0.00,0.00,-0.807,,,0,14478,0,0,0,17568,0,0,1,10300,0,0,0,16622,0,0,0,17576,0,0,0,2022,0,0,2,438264,0,0,,,,,0,27242,0,0,0,23632,0,0 +17-43104070-G-GA,17,43104070,rs921962743,G,GA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51dup,,c.441+51dup,intron_variant,,,,2754,684540,0.004023139626610571,0,0,nfe,0.00448119,1.34,,0.00,0.00,-0.807,,,18,50308,0,0,36,31208,0,0,60,13168,0,0,65,20896,0,0,84,25980,0,0,5,2244,0,0,2246,483852,0,0,0,828,0,0,119,31314,0,0,121,24742,0,0 +17-43104071-A-T,17,43104071,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+51T>A,,c.441+51T>A,intron_variant,,,,1,1369244,7.30330021530129e-7,0,0,,,3.96,,0.00,0.00,-0.896,,,0,30164,0,0,0,38758,0,0,0,24556,0,0,0,38282,0,0,0,47526,0,0,0,5260,0,0,1,1047722,0,0,,,,,0,80150,0,0,0,56826,0,0 +17-43104071-A-G,17,43104071,rs578250989,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+51T>C,,c.441+51T>C,intron_variant,Likely benign,1107258,,34,1439172,0.000023624695310914886,0,0,eas,0.00009798999999999996,4.43,,0.00,0.00,-0.896,,,1,53910,0,0,0,45486,0,0,1,25928,0,0,8,40304,0,0,0,50978,0,0,0,5376,0,0,23,1077592,0,0,0,468,0,0,0,81418,0,0,1,57712,0,0 +17-43104071-A-ATT,17,43104071,rs1567809791,A,ATT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+50_441+51insAA,,c.441+50_441+51insAA,intron_variant,,,,1,1369244,7.30330021530129e-7,0,0,,,1.47,,0.00,0.00,-0.896,,,0,30164,0,0,1,38758,0,0,0,24556,0,0,0,38282,0,0,0,47526,0,0,0,5260,0,0,0,1047722,0,0,,,,,0,80150,0,0,0,56826,0,0 +17-43104072-AAAAAAAAAGAAAAG-A,17,43104072,rs373413425,AAAAAAAAAGAAAAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+36_441+49del,,c.441+36_441+49del,intron_variant,Benign,225705,,45460,148046,0.3070667225051673,7278,0,sas,0.48775813999999984,1.40,,0.00,-0.0100,0.220,,,9044,40736,986,0,4755,14796,774,0,1218,3422,201,0,1827,5054,336,0,3611,9526,699,0,96,284,14,0,21732,66640,3548,0,254,904,39,0,2254,4646,574,0,669,2038,107,0 +17-43104072-AAAAAAAAAGAAAAGAAGAAG-A,17,43104072,rs2054608255,AAAAAAAAAGAAAAGAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+30_441+49del,,c.441+30_441+49del,intron_variant,,,,9,1556962,0.000005780487898869722,0,0,amr,0.00000612,1.90,,0.00,0.0100,0.220,,,0,72166,0,0,2,54240,0,0,0,28638,0,0,0,44424,0,0,0,57924,0,0,0,5706,0,0,7,1148190,0,0,0,908,0,0,0,84444,0,0,0,60322,0,0 +17-43104072-AAAAAAAAAGAAAAGAAG-A,17,43104072,rs771382888,AAAAAAAAAGAAAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+49del,,c.441+33_441+49del,intron_variant,,,,97,1556278,0.00006232819586217887,0,0,eas,0.00008915999999999997,1.90,,0.00,0.00,0.220,,,2,72160,0,0,2,54226,0,0,0,28620,0,0,8,44404,0,0,2,57882,0,0,1,5702,0,0,70,1147670,0,0,0,908,0,0,7,84410,0,0,5,60296,0,0 +17-43104075-A-T,17,43104075,rs924685896,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+47T>A,,c.441+47T>A,intron_variant,,,,8,706246,0.000011327497784058246,0,0,amr,0.000054159999999999956,1.23,,0.00,0.00,0.219,,,1,43704,0,0,4,25048,0,0,0,11618,0,0,0,18772,0,0,0,22174,0,0,0,2378,0,0,0,532848,0,0,0,474,0,0,0,22222,0,0,3,27008,0,0 +17-43104075-A-G,17,43104075,rs924685896,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+47T>C,,c.441+47T>C,intron_variant,,,,3,633894,0.000004732652462399076,0,0,,,1.52,,0.00,0.00,0.219,,,0,19054,0,0,0,18104,0,0,0,10218,0,0,0,16694,0,0,0,18396,0,0,1,2248,0,0,1,502186,0,0,,,,,0,20918,0,0,1,26076,0,0 +17-43104076-AAAAAG-A,17,43104076,rs749649759,AAAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+41_441+45del,,c.441+41_441+45del,intron_variant,,,,9,634014,0.000014195270135990688,0,0,sas,0.00006416999999999995,1.26,,0.00,0.00,0.215,,,0,19120,0,0,0,18318,0,0,0,10242,0,0,0,16694,0,0,0,18524,0,0,0,2242,0,0,5,501744,0,0,,,,,4,21054,0,0,0,26076,0,0 +17-43104077-A-G,17,43104077,rs751293910,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+45T>C,,c.441+45T>C,intron_variant,,,,11,706596,0.000015567594495298586,0,0,nfe,0.00000794,0.725,,0.00,0.00,-2.37,,,0,43726,0,0,0,25196,0,0,0,11628,0,0,0,18774,0,0,0,22346,0,0,0,2390,0,0,9,532794,0,0,0,474,0,0,0,22254,0,0,2,27014,0,0 +17-43104078-A-G,17,43104078,rs1359695398,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+44T>C,,c.441+44T>C,intron_variant,,,,2,646642,0.0000030929014818091,0,0,,,5.25,,0.00,0.00,0.0710,,,0,19176,0,0,0,18314,0,0,0,10322,0,0,0,16776,0,0,0,18632,0,0,0,2294,0,0,1,513348,0,0,,,,,0,21322,0,0,1,26458,0,0 +17-43104079-A-G,17,43104079,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+43T>C,,c.441+43T>C,intron_variant,,,,1,634762,0.0000015753936120939816,0,0,,,2.32,,0.00,0.00,0.0710,,,0,19152,0,0,0,18370,0,0,0,10242,0,0,0,16700,0,0,0,18714,0,0,0,2270,0,0,1,502164,0,0,,,,,0,21048,0,0,0,26102,0,0 +17-43104081-GAA-G,17,43104081,rs2154548295,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+39_441+40del,,c.441+39_441+40del,intron_variant,,,,2,622104,0.000003214896544629194,0,0,,,1.08,,0.00,0.00,-2.00,,,0,18640,0,0,0,17024,0,0,1,10050,0,0,0,16524,0,0,0,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,0,25642,0,0 +17-43104081-GAAAAGA-G,17,43104081,rs746156772,GAAAAGA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+35_441+40del,,c.441+35_441+40del,intron_variant,,,,11,622104,0.000017681930995460566,0,0,,,1.71,,0.00,-0.0100,-2.00,,,0,18640,0,0,0,17024,0,0,0,10050,0,0,0,16524,0,0,9,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,1,25642,0,0 +17-43104081-GAAAA-G,17,43104081,,GAAAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+37_441+40del,,c.441+37_441+40del,intron_variant,,,,1,622104,0.000001607448272314597,0,0,,,1.27,,0.00,-0.0100,-2.00,,,0,18640,0,0,0,17024,0,0,0,10050,0,0,0,16524,0,0,0,16978,0,0,0,2110,0,0,1,494516,0,0,,,,,0,20620,0,0,0,25642,0,0 +17-43104082-A-G,17,43104082,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+40T>C,,c.441+40T>C,intron_variant,,,,1,635654,0.0000015731828950970182,0,0,,,4.19,,0.00,0.00,0.0710,,,0,19302,0,0,0,18858,0,0,0,10288,0,0,0,16682,0,0,0,18964,0,0,0,2296,0,0,1,501888,0,0,,,,,0,21198,0,0,0,26178,0,0 +17-43104083-AAAGAAGAAG-A,17,43104083,rs147856441,AAAGAAGAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30_441+38del,,c.441+30_441+38del,intron_variant,,,,3,1052520,0.0000028503021320259948,0,0,nfe,9.000000000000001e-7,1.72,,0.00,-0.0100,0.0710,,,0,24564,0,0,0,19026,0,0,0,12856,0,0,0,18230,0,0,0,18792,0,0,0,3170,0,0,3,883272,0,0,,,,,0,32522,0,0,0,40088,0,0 +17-43104083-A-AAAGAAG,17,43104083,rs147856441,A,AAAGAAG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+38dup,,c.441+33_441+38dup,intron_variant,,,,57,1124664,0.000050681803632018094,0,0,amr,0.00005187999999999996,0.301,,0.00,0.0100,0.0710,,,0,49106,0,0,4,25942,0,0,0,14254,0,0,0,20300,0,0,0,22534,0,0,0,3300,0,0,49,913902,0,0,0,472,0,0,1,33838,0,0,3,41016,0,0 +17-43104083-AAAG-A,17,43104083,rs147856441,AAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+36_441+38del,,c.441+36_441+38del,intron_variant,Benign,225704,,2130,1115902,0.0019087697665207159,17,0,sas,0.01041171999999999,0.892,,0.00,0.00,0.0710,,,92,48854,0,0,45,25774,0,0,7,14122,0,0,34,20110,1,0,192,22230,3,0,19,3248,0,0,1225,906778,2,0,0,472,0,0,382,33656,9,0,134,40658,2,0 +17-43104083-A-AAAG,17,43104083,rs147856441,A,AAAG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+36_441+38dup,,c.441+36_441+38dup,intron_variant,Likely benign,1697607,,223,1124392,0.0001983294082490804,0,0,afr,0.0003873300000000001,0.321,,0.00,0.00,0.0710,,,27,49156,0,0,9,25944,0,0,0,14250,0,0,4,20294,0,0,1,22534,0,0,1,3288,0,0,165,913614,0,0,0,472,0,0,6,33840,0,0,10,41000,0,0 +17-43104083-A-AAAGAAGAAG,17,43104083,,A,AAAGAAGAAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30_441+38dup,,c.441+30_441+38dup,intron_variant,,,,1,1052520,9.501007106753316e-7,0,0,,,0.283,,0.00,0.00,0.0710,,,0,24564,0,0,0,19026,0,0,0,12856,0,0,0,18230,0,0,0,18792,0,0,0,3170,0,0,1,883272,0,0,,,,,0,32522,0,0,0,40088,0,0 +17-43104083-AAAGAAG-A,17,43104083,rs147856441,AAAGAAG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+33_441+38del,,c.441+33_441+38del,intron_variant,,,,85,1124644,0.00007557947225966616,0,0,nfe,0.00006703,1.72,,0.00,-0.0100,0.0710,,,5,49106,0,0,1,25942,0,0,0,14254,0,0,1,20300,0,0,1,22534,0,0,0,3300,0,0,75,913880,0,0,0,472,0,0,1,33840,0,0,1,41016,0,0 +17-43104086-GAAGAA-G,17,43104086,rs776446166,GAAGAA,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+31_441+35del,,c.441+31_441+35del,intron_variant,,,,1,71068,0.000014071030562278382,0,0,,,1.83,,0.00,-0.0100,-3.83,,,1,24164,0,0,0,6792,0,0,0,1392,0,0,0,2046,0,0,0,3524,0,0,0,130,0,0,0,30366,0,0,0,470,0,0,0,1266,0,0,0,918,0,0 +17-43104087-A-T,17,43104087,rs757003198,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+35T>A,,c.441+35T>A,intron_variant,,,,1,1410700,7.088679379031686e-7,0,0,,,5.27,,0.00,0.00,0.0750,,,0,31910,0,0,0,40734,0,0,0,24956,0,0,0,38702,0,0,0,50320,0,0,0,5550,0,0,1,1080994,0,0,,,,,0,79128,0,0,0,58406,0,0 +17-43104091-AGAAG-A,17,43104091,rs761517096,AGAAG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+27_441+30del,,c.441+27_441+30del,intron_variant,,,,2,151920,0.000013164823591363876,0,0,afr,0.00000798,0.878,,0.00,-0.0100,0.221,,,2,41512,0,0,0,15242,0,0,0,3470,0,0,0,5178,0,0,0,10474,0,0,0,294,0,0,0,67930,0,0,0,910,0,0,0,4802,0,0,0,2108,0,0 +17-43104092-G-C,17,43104092,rs781140529,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+30C>G,,c.441+30C>G,intron_variant,,,,1,1434380,6.971653257853567e-7,0,0,,,0.108,,0.00,0.00,-0.726,,,0,32432,0,0,1,42034,0,0,0,25696,0,0,0,39460,0,0,0,51748,0,0,0,5622,0,0,0,1095478,0,0,,,,,0,82550,0,0,0,59360,0,0 +17-43104092-GAA-G,17,43104092,,GAA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+28_441+29del,,c.441+28_441+29del,intron_variant,,,,1,1434380,6.971653257853567e-7,0,0,,,0.781,,0.00,-0.0100,-0.726,,,0,32432,0,0,0,42034,0,0,0,25696,0,0,0,39460,0,0,0,51748,0,0,0,5622,0,0,0,1095478,0,0,,,,,1,82550,0,0,0,59360,0,0 +17-43104092-GA-G,17,43104092,,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+29del,,c.441+29del,intron_variant,,,,2,1584904,0.0000012619060839016116,0,0,,,0.829,,0.00,0.00,-0.726,,,0,73480,0,0,0,57144,0,0,0,29152,0,0,0,44610,0,0,0,61814,0,0,0,5934,0,0,2,1163120,0,0,0,908,0,0,0,87310,0,0,0,61432,0,0 +17-43104094-A-C,17,43104094,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+28T>G,,c.441+28T>G,intron_variant,,,,1,1447378,6.909045183773693e-7,0,0,,,0.232,,0.00,0.00,0.221,,,1,32720,0,0,0,42640,0,0,0,25864,0,0,0,39608,0,0,0,52406,0,0,0,5686,0,0,0,1105202,0,0,,,,,0,83382,0,0,0,59870,0,0 +17-43104099-A-G,17,43104099,rs1325527955,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+23T>C,,c.441+23T>C,intron_variant,,,,2,829150,0.0000024121087861062536,0,0,afr,0.00002204,5.47,,0.00,0.00,-0.740,,,2,15696,0,0,0,980,0,0,0,5134,0,0,0,3614,0,0,0,276,0,0,0,1612,0,0,0,758304,0,0,,,,,0,16360,0,0,0,27174,0,0 +17-43104101-GAA-G,17,43104101,rs764884677,GAA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+19_441+20del,,c.441+19_441+20del,intron_variant,Likely benign,462648,,80,1599602,0.0000500124405945979,0,0,afr,0.0008146800000000001,1.36,,0.00,-0.0100,-0.935,,,74,74140,0,0,0,58942,0,0,0,29434,0,0,0,44694,0,0,0,62948,0,0,0,5998,0,0,2,1171260,0,0,0,906,0,0,0,89248,0,0,4,62032,0,0 +17-43104101-G-T,17,43104101,rs1403139927,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+21C>A,,c.441+21C>A,intron_variant,,,,1,1448854,6.902006689424883e-7,0,0,,,2.14,,0.00,0.00,-0.935,,,0,33020,0,0,0,43806,0,0,0,25980,0,0,0,39544,0,0,0,52640,0,0,0,5706,0,0,1,1103712,0,0,,,,,0,84510,0,0,0,59936,0,0 +17-43104104-G-GAAA,17,43104104,,G,GAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+15_441+17dup,,c.441+15_441+17dup,intron_variant,,,,1,1416362,7.060341918238416e-7,0,0,,,0.233,,0.00,0.00,-0.182,,,0,32572,0,0,0,43558,0,0,0,25594,0,0,0,39184,0,0,0,52222,0,0,0,5582,0,0,0,1075538,0,0,,,,,0,83470,0,0,1,58642,0,0 +17-43104104-G-A,17,43104104,rs371973519,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+18C>T,,c.441+18C>T,intron_variant,Benign/Likely benign,215873,,120,1561146,0.00007686660952915358,0,0,amr,0.00009299999999999998,0.191,,0.00,0.00,-0.182,,,3,72480,0,0,10,57910,0,0,0,28940,0,0,0,44048,0,0,1,61754,0,0,2,5864,0,0,94,1140740,0,0,0,886,0,0,2,87864,0,0,8,60660,0,0 +17-43104104-GA-G,17,43104104,rs730881449,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+17del,,c.441+17del,intron_variant,Benign/Likely benign,462647,,79,1561140,0.00005060404576143075,0,0,afr,0.0008209800000000001,0.0940,,0.00,0.00,-0.182,,,73,72470,0,0,0,57908,0,0,0,28940,0,0,0,44048,0,0,0,61754,0,0,0,5864,0,0,2,1140746,0,0,0,886,0,0,0,87864,0,0,4,60660,0,0 +17-43104108-A-G,17,43104108,rs750353662,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.441+14T>C,,c.441+14T>C,intron_variant,Likely benign,491079,,1,151840,0.000006585879873551107,0,0,,,6.46,,0.00,0.00,-0.249,,,0,41356,0,0,0,15234,0,0,0,3468,0,0,0,5190,0,0,0,10490,0,0,0,316,0,0,1,67970,0,0,0,910,0,0,0,4818,0,0,0,2088,0,0 +17-43104109-C-T,17,43104109,rs1057520408,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+13G>A,,c.441+13G>A,intron_variant,Benign/Likely benign,378919,,3,1447902,0.000002071963433989317,0,0,nfe,2.999999999999999e-7,0.196,,0.00,0.00,-0.270,,,0,32786,0,0,0,43910,0,0,0,25842,0,0,0,38894,0,0,0,52580,0,0,0,5696,0,0,2,1103686,0,0,,,,,0,84734,0,0,1,59774,0,0 +17-43104113-T-C,17,43104113,rs1555596273,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+9A>G,,c.441+9A>G,intron_variant,Conflicting interpretations of pathogenicity,496382,,1,1458302,6.857290190920674e-7,0,0,,,12.3,,0.0900,0.0100,0.312,,,0,33326,0,0,0,44466,0,0,0,26076,0,0,0,39618,0,0,0,53176,0,0,0,5754,0,0,1,1109974,0,0,,,,,0,85610,0,0,0,60302,0,0 +17-43104115-G-GT,17,43104115,rs1060504561,G,GT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+6dup,,c.441+6dup,splice_region_variant,Conflicting interpretations of pathogenicity,462649,,24,1611740,0.000014890739201111842,0,0,nfe,0.00001377,7.20,,0.00,0.0100,0.655,,,0,74752,0,0,0,59850,0,0,0,29584,0,0,0,44856,0,0,0,63680,0,0,0,6080,0,0,24,1178862,0,0,0,912,0,0,0,90738,0,0,0,62426,0,0 +17-43104115-G-A,17,43104115,rs2154548520,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.441+7C>T,,c.441+7C>T,splice_region_variant,Likely benign,1640523,,4,1459958,0.000002739804843700983,0,0,nfe,8.4e-7,7.86,,0.00,0.00,0.655,,,0,33420,0,0,0,44628,0,0,0,26112,0,0,0,39668,0,0,0,53202,0,0,0,5764,0,0,4,1110890,0,0,,,,,0,85930,0,0,0,60344,0,0 +17-43104117-T-C,17,43104117,rs200358748,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.441+5A>G,,c.441+5A>G,intron_variant,,,,3,1612452,0.0000018605204992148604,0,0,nfe,6.800000000000001e-7,8.09,,0.00,-0.0100,0.151,,,0,74888,0,0,0,59898,0,0,0,29596,0,0,0,44866,0,0,0,63792,0,0,0,6058,0,0,3,1179236,0,0,0,912,0,0,0,90738,0,0,0,62468,0,0 +17-43104122-C-G,17,43104122,rs748876625,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu147Phe,p.Leu147Phe,c.441G>C,missense_variant,Conflicting interpretations of pathogenicity,220023,,22,1612048,0.000013647236310581322,0,0,nfe,0.00001221,33.0,0.418,0.180,-0.770,8.77,0.00,0.804,0,74578,0,0,0,59856,0,0,0,29592,0,0,0,44850,0,0,0,63728,0,0,0,6078,0,0,22,1179212,0,0,0,908,0,0,0,90788,0,0,0,62458,0,0 +17-43104124-A-G,17,43104124,rs794727800,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu147Leu,p.Leu147Leu,c.439T>C,splice_region_variant,Likely benign,198200,,5,1461152,0.000003421957469175007,0,0,nfe,0.0000013199999999999999,14.5,,0.00,0.00,0.250,,,0,33454,0,0,0,44680,0,0,0,26132,0,0,0,39684,0,0,0,53336,0,0,0,5764,0,0,5,1111656,0,0,,,,,0,86072,0,0,0,60374,0,0 +17-43104126-G-A,17,43104126,rs1060502358,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser146Phe,p.Ser146Phe,c.437C>T,missense_variant,Uncertain significance,409358,,1,832878,0.0000012006560384594141,0,0,,,23.3,0.498,0.00,-0.0100,0.981,0.00,0.135,0,15778,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761692,0,0,,,,,0,16458,0,0,0,27290,0,0 +17-43104128-A-C,17,43104128,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro145Pro,p.Pro145Pro,c.435T>G,synonymous_variant,,,,5,832958,0.000006002703617709416,0,0,nfe,0.0000019200000000000003,9.70,,0.00,0.00,0.0750,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,5,761770,0,0,,,,,0,16458,0,0,0,27290,0,0 +17-43104130-G-T,17,43104130,rs2054618097,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro145Thr,p.Pro145Thr,c.433C>A,missense_variant,Uncertain significance,846046,,1,832934,0.0000012005753156912792,0,0,,,22.8,0.548,0.00,0.00,0.480,0.0200,0.681,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3628,0,0,0,276,0,0,0,1618,0,0,0,761746,0,0,,,,,0,16458,0,0,1,27292,0,0 +17-43104131-AT-A,17,43104131,rs397509162,AT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asn144IlefsTer19,p.Asn144IlefsTer19,c.431del,frameshift_variant,Pathogenic,55167,,1,151840,0.000006585879873551107,0,0,,,23.4,,0.00,-0.0100,0.385,,,0,41342,0,0,0,15246,0,0,0,3472,0,0,0,5194,0,0,0,10478,0,0,0,314,0,0,0,67980,0,0,0,910,0,0,1,4812,0,0,0,2092,0,0 +17-43104134-T-G,17,43104134,rs397507228,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Asp,p.Glu143Asp,c.429A>C,missense_variant,Uncertain significance,37582,,13,628492,0.00002068443194185447,0,0,nfe,9.5e-7,15.9,0.570,0.00,0.00,0.960,0.0700,0.0390,0,17686,0,0,0,43720,0,0,0,20982,0,0,0,36054,0,0,11,53104,0,0,0,4146,0,0,2,350038,0,0,,,,,0,69676,0,0,0,33086,0,0 +17-43104135-T-C,17,43104135,rs2054618893,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Gly,p.Glu143Gly,c.428A>G,missense_variant,Uncertain significance,1044896,,1,628510,0.0000015910645813113554,0,0,,,18.0,0.475,0.00,0.00,1.93,0.230,0.0810,0,17686,0,0,0,43714,0,0,0,20982,0,0,0,36058,0,0,0,53106,0,0,0,4148,0,0,0,350044,0,0,,,,,1,69686,0,0,0,33086,0,0 +17-43104136-C-A,17,43104136,rs80356991,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Ter,p.Glu143Ter,c.427G>T,stop_gained,Pathogenic,37581,,12,1461442,0.00000821106824629373,0,0,nfe,0.00000531,33.0,,0.0400,-0.0700,1.53,,,0,33466,0,0,0,44692,0,0,0,26130,0,0,0,39682,0,0,0,53370,0,0,0,5764,0,0,11,1111836,0,0,,,,,0,86120,0,0,1,60382,0,0 +17-43104136-C-T,17,43104136,rs80356991,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu143Lys,p.Glu143Lys,c.427G>A,missense_variant,Benign,37580,,108,1613230,0.00006694643665193432,0,0,eas,0.00013695,16.0,0.519,0.0100,-0.0200,1.53,0.100,0.00600,0,74812,0,0,1,59920,0,0,0,29600,0,0,11,44878,0,0,0,63846,0,0,0,6080,0,0,89,1179784,0,0,0,912,0,0,6,90930,0,0,1,62468,0,0 +17-43104136-C-G,17,43104136,rs80356991,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu143Gln,p.Glu143Gln,c.427G>C,missense_variant,Uncertain significance,232628,,2,1461442,0.0000013685113743822883,0,0,,,14.7,0.495,0.0100,-0.0200,1.53,0.0600,0.0100,0,33466,0,0,0,44692,0,0,0,26130,0,0,0,39682,0,0,0,53370,0,0,0,5764,0,0,1,1111836,0,0,,,,,1,86120,0,0,0,60382,0,0 +17-43104137-G-A,17,43104137,rs542687218,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro142Pro,p.Pro142Pro,c.426C>T,synonymous_variant,Likely benign,183916,,15,1613542,0.000009296318286105971,0,0,amr,0.00001328,2.16,,0.00,-0.0100,-0.507,,,1,74968,0,0,3,59970,0,0,0,29600,0,0,2,44866,0,0,0,63908,0,0,0,6058,0,0,3,1179832,0,0,0,912,0,0,2,90940,0,0,4,62488,0,0 +17-43104137-G-C,17,43104137,rs542687218,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro142Pro,p.Pro142Pro,c.426C>G,synonymous_variant,Likely benign,824740,,4,1461468,0.000002736974056222921,0,0,,,1.84,,0.00,0.00,-0.507,,,0,33460,0,0,0,44704,0,0,0,26130,0,0,0,39684,0,0,3,53382,0,0,0,5764,0,0,1,1111844,0,0,,,,,0,86122,0,0,0,60378,0,0 +17-43104138-G-T,17,43104138,rs55971303,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro142His,p.Pro142His,c.425C>A,missense_variant,Benign,41823,,91,1613662,0.00005639347025585283,0,0,amr,0.00015364,17.8,0.564,0.00,-0.0100,2.30,0.0500,0.850,0,74900,0,0,15,59966,0,0,0,29602,0,0,0,44888,0,0,0,63946,0,0,1,6082,0,0,64,1179892,0,0,0,912,0,0,1,91000,0,0,10,62474,0,0 +17-43104143-A-G,17,43104143,rs730881448,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser140Ser,p.Ser140Ser,c.420T>C,synonymous_variant,Likely benign,182085,,7,780642,0.000008966978461317735,0,0,amr,0.00005516999999999998,5.10,,0.00,0.00,0.0980,,,0,59094,0,0,7,58988,0,0,0,24456,0,0,0,41262,0,0,0,63664,0,0,0,4464,0,0,0,418072,0,0,0,912,0,0,0,74546,0,0,0,35184,0,0 +17-43104144-C-T,17,43104144,rs1064793055,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser140Asn,p.Ser140Asn,c.419G>A,missense_variant,Uncertain significance,418067,,3,628612,0.000004772419234758484,0,0,sas,0.00000476,0.751,0.552,0.00,0.00,-0.534,0.470,0.346,0,17688,0,0,0,43740,0,0,0,20984,0,0,1,36054,0,0,0,53112,0,0,0,4148,0,0,0,350062,0,0,,,,,2,69734,0,0,0,33090,0,0 +17-43104147-T-A,17,43104147,rs786202213,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln139Leu,p.Gln139Leu,c.416A>T,missense_variant,,,,1,1461760,6.84106830122592e-7,0,0,,,23.9,0.531,0.00,-0.0100,1.38,0.00,0.0180,0,33470,0,0,0,44724,0,0,0,26136,0,0,0,39688,0,0,0,53396,0,0,0,5766,0,0,1,1111956,0,0,,,,,0,86232,0,0,0,60392,0,0 +17-43104147-T-C,17,43104147,rs786202213,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln139Arg,p.Gln139Arg,c.416A>G,missense_variant,Uncertain significance,185488,,1,1461760,6.84106830122592e-7,0,0,,,23.3,0.530,0.00,0.00,1.38,0.00,0.00300,0,33470,0,0,0,44724,0,0,0,26136,0,0,0,39688,0,0,0,53396,0,0,0,5766,0,0,0,1111956,0,0,,,,,0,86232,0,0,1,60392,0,0 +17-43104149-T-C,17,43104149,rs1597896509,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138Leu,p.Leu138Leu,c.414A>G,synonymous_variant,Likely benign,760922,,1,1461748,6.841124461945561e-7,0,0,,,6.71,,0.00,0.00,-1.20,,,0,33474,0,0,0,44724,0,0,0,26136,0,0,0,39690,0,0,0,53396,0,0,0,5766,0,0,1,1111930,0,0,,,,,0,86242,0,0,0,60390,0,0 +17-43104150-A-G,17,43104150,rs200449040,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138Pro,p.Leu138Pro,c.413T>C,missense_variant,Conflicting interpretations of pathogenicity,433690,,6,1461776,0.000004104596053020435,0,0,nfe,0.0000013199999999999999,14.1,0.556,0.00,-0.0100,0.0700,0.110,0.0870,0,33478,0,0,0,44724,0,0,0,26136,0,0,0,39690,0,0,0,53398,0,0,0,5766,0,0,5,1111954,0,0,,,,,1,86240,0,0,0,60390,0,0 +17-43104151-GA-G,17,43104151,rs886040205,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu138TyrfsTer25,p.Leu138TyrfsTer25,c.411del,frameshift_variant,Pathogenic,266447,,1,833034,0.0000012004311948852028,0,0,,,24.5,,0.00,-0.0200,1.17,,,0,15780,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761840,0,0,,,,,0,16460,0,0,0,27294,0,0 +17-43104152-A-G,17,43104152,rs1258746087,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu137Leu,p.Leu137Leu,c.411T>C,synonymous_variant,Likely benign,560855,,2,152150,0.000013144922773578704,0,0,,,11.1,,0.00,-0.0100,1.28,,,1,41434,0,0,0,15258,0,0,0,3472,0,0,0,5200,0,0,0,10604,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43104153-A-G,17,43104153,rs751078452,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu137Pro,p.Leu137Pro,c.410T>C,missense_variant,Uncertain significance,216666,,2,1461776,0.0000013681986843401451,0,0,nfe,2.999999999999999e-7,24.5,0.562,0.00,0.00,2.89,0.0500,0.454,0,33472,0,0,0,44724,0,0,0,26134,0,0,0,39690,0,0,0,53398,0,0,0,5766,0,0,2,1111958,0,0,,,,,0,86244,0,0,0,60390,0,0 +17-43104154-G-A,17,43104154,rs1350236972,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu137Phe,p.Leu137Phe,c.409C>T,missense_variant,Uncertain significance,1054022,,1,628706,0.000001590568564639116,0,0,,,17.9,0.486,0.00,-0.0100,1.27,0.190,0.289,0,17688,0,0,1,43740,0,0,0,20984,0,0,0,36056,0,0,0,53120,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69784,0,0,0,33092,0,0 +17-43104155-T-C,17,43104155,rs2054622929,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg136Arg,p.Arg136Arg,c.408A>G,synonymous_variant,Likely benign,2020746,,1,152074,0.000006575746018385786,0,0,,,11.3,,0.00,-0.0100,0.453,,,0,41410,0,0,0,15244,0,0,0,3470,0,0,0,5196,0,0,0,10598,0,0,0,316,0,0,1,68020,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 +17-43104156-C-T,17,43104156,rs1437476481,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg136Lys,p.Arg136Lys,c.407G>A,missense_variant,Uncertain significance,1051488,,2,1461784,0.0000013681911965105651,0,0,,,14.9,0.566,0.00,-0.0100,0.364,0.410,0.0910,0,33474,0,0,0,44722,0,0,0,26136,0,0,0,39686,0,0,0,53400,0,0,1,5766,0,0,1,1111964,0,0,,,,,0,86246,0,0,0,60390,0,0 +17-43104156-C-A,17,43104156,rs1437476481,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Arg136Ile,p.Arg136Ile,c.407G>T,missense_variant,,,,1,152020,0.000006578081831337982,0,0,,,23.3,0.629,0.00,0.0100,0.364,,,0,41392,0,0,0,15248,0,0,0,3472,0,0,0,5200,0,0,0,10552,0,0,0,316,0,0,1,68012,0,0,0,912,0,0,0,4826,0,0,0,2090,0,0 +17-43104159-T-TTGG,17,43104159,rs1555596338,T,TTGG,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala134_Lys135insThr,p.Ala134_Lys135insThr,c.401_403dup,inframe_insertion,Uncertain significance,548912,,1,628734,0.0000015904977303597388,0,0,,,16.0,,0.00,0.00,0.126,,,0,17692,0,0,0,43740,0,0,0,20984,0,0,0,36060,0,0,0,53128,0,0,0,4148,0,0,1,350102,0,0,,,,,0,69786,0,0,0,33094,0,0 +17-43104165-C-T,17,43104165,rs80357357,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg133His,p.Arg133His,c.398G>A,missense_variant,Conflicting interpretations of pathogenicity,37557,,18,1613848,0.000011153466745319262,0,0,afr,0.000025500000000000003,25.9,0.699,0.00,-0.0100,7.09,0.00,0.818,5,74880,0,0,0,59984,0,0,0,29602,0,0,2,44894,0,0,1,63976,0,0,0,6082,0,0,8,1179970,0,0,0,912,0,0,1,91068,0,0,1,62480,0,0 +17-43104166-G-T,17,43104166,rs80357457,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg133Ser,p.Arg133Ser,c.397C>A,missense_variant,Likely benign,91619,,1,1461760,6.84106830122592e-7,0,0,,,25.3,0.701,0.00,-0.0100,5.85,0.00,0.694,0,33474,0,0,0,44724,0,0,0,26134,0,0,0,39686,0,0,0,53404,0,0,0,5766,0,0,0,1111946,0,0,,,,,1,86238,0,0,0,60388,0,0 +17-43104166-G-A,17,43104166,rs80357457,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg133Cys,p.Arg133Cys,c.397C>T,missense_variant,Benign,55067,,12,1613810,0.00000743581958223087,0,0,nfe,0.00000292,27.1,0.735,0.00,-0.0100,5.85,0.00,0.925,0,74878,0,0,0,59990,0,0,0,29604,0,0,0,44882,0,0,0,63966,0,0,0,6082,0,0,8,1179964,0,0,0,912,0,0,1,91050,0,0,3,62482,0,0 +17-43104167-G-A,17,43104167,rs80357413,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn132Asn,p.Asn132Asn,c.396C>T,synonymous_variant,,,,1,1461784,6.840955982552826e-7,0,0,,,6.49,,0.00,0.00,0.338,,,0,33478,0,0,0,44722,0,0,0,26134,0,0,0,39690,0,0,0,53400,0,0,0,5766,0,0,1,1111960,0,0,,,,,0,86246,0,0,0,60388,0,0 +17-43104167-G-T,17,43104167,rs80357413,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn132Lys,p.Asn132Lys,c.396C>A,missense_variant,Benign,55064,,60,1613926,0.00003717642568494466,0,0,nfe,0.00003856,17.6,0.661,0.00,0.00,0.338,0.00,0.230,1,74908,0,0,0,59990,0,0,0,29606,0,0,0,44890,0,0,0,64002,0,0,0,6082,0,0,58,1179978,0,0,0,912,0,0,0,91078,0,0,1,62480,0,0 +17-43104171-C-G,17,43104171,rs2154549164,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg131Thr,p.Arg131Thr,c.392G>C,missense_variant,,,,1,833056,0.0000012003994929512542,0,0,,,25.2,0.717,0.00,0.00,7.09,0.00,0.444,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761856,0,0,,,,,0,16458,0,0,0,27298,0,0 +17-43104173-G-A,17,43104173,rs80356888,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr130Tyr,p.Tyr130Tyr,c.390C>T,synonymous_variant,Likely benign,427269,,1,152246,0.0000065683170658014006,0,0,,,7.49,,0.00,-0.0100,2.30,,,0,41538,0,0,0,15290,0,0,0,3468,0,0,0,5182,0,0,0,10608,0,0,0,294,0,0,1,68016,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 +17-43104173-G-T,17,43104173,rs80356888,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr130Ter,p.Tyr130Ter,c.390C>A,stop_gained,Pathogenic,55046,,1,628724,0.0000015905230275923935,0,0,,,33.0,,0.00,-0.0400,2.30,,,0,17694,0,0,0,43740,0,0,0,20982,0,0,1,36058,0,0,0,53126,0,0,0,4148,0,0,0,350094,0,0,,,,,0,69788,0,0,0,33094,0,0 +17-43104175-A-T,17,43104175,rs1204011551,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Tyr130Asn,p.Tyr130Asn,c.388T>A,missense_variant,,,,1,152190,0.000006570733950982325,0,0,,,26.5,0.711,0.00,0.00,6.30,,,0,41454,0,0,0,15262,0,0,0,3472,0,0,0,5200,0,0,0,10608,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43104177-C-A,17,43104177,rs764231119,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly129Val,p.Gly129Val,c.386G>T,missense_variant,Uncertain significance,481476,,1,628742,0.0000015904774931529943,0,0,,,24.8,0.738,0.00,0.00,7.06,0.00,0.468,0,17694,0,0,0,43740,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43104178-C-T,17,43104178,rs1555596362,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly129Ser,p.Gly129Ser,c.385G>A,missense_variant,Uncertain significance,462624,,1,628738,0.0000015904876116919926,0,0,,,25.2,0.682,0.00,0.00,8.86,0.00,0.145,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69792,0,0,0,33094,0,0 +17-43104181-T-C,17,43104181,rs864622124,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met128Val,p.Met128Val,c.382A>G,missense_variant,Uncertain significance,219502,,1,833024,0.0000012004456054087276,0,0,,,15.6,0.576,0.00,0.00,-0.380,0.260,0.0310,0,15782,0,0,0,984,0,0,0,5152,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,1,761834,0,0,,,,,0,16456,0,0,0,27296,0,0 +17-43104183-C-G,17,43104183,rs80357189,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser127Thr,p.Ser127Thr,c.380G>C,missense_variant,,,,2,628736,0.000003180985342019544,0,0,nfe,9.5e-7,24.5,0.666,0.00,0.00,5.03,0.00,0.549,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43104183-C-A,17,43104183,rs80357189,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser127Ile,p.Ser127Ile,c.380G>T,missense_variant,Uncertain significance,142655,,1,628736,0.000001590492671009772,0,0,,,25.4,0.781,0.00,0.00,5.03,0.00,0.0410,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350098,0,0,,,,,0,69792,0,0,0,33096,0,0 +17-43104183-C-T,17,43104183,rs80357189,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser127Asn,p.Ser127Asn,c.380G>A,missense_variant,Uncertain significance,55012,,11,780842,0.000014087356981309919,0,0,sas,0.00003482999999999999,24.7,0.528,0.00,0.00,5.03,0.00,0.630,0,59120,0,0,0,59000,0,0,0,24454,0,0,0,41260,0,0,0,63708,0,0,0,4464,0,0,5,418120,0,0,0,912,0,0,6,74620,0,0,0,35184,0,0 +17-43104185-T-C,17,43104185,rs786201256,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln126Gln,p.Gln126Gln,c.378A>G,synonymous_variant,Likely benign,184064,,28,1613972,0.000017348504187185404,0,0,nfe,0.00001645,10.2,,0.00,0.00,-0.773,,,0,74942,0,0,0,59990,0,0,0,29606,0,0,0,44890,0,0,0,64028,0,0,0,6084,0,0,28,1179958,0,0,0,912,0,0,0,91076,0,0,0,62486,0,0 +17-43104186-T-C,17,43104186,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln126Arg,p.Gln126Arg,c.377A>G,missense_variant,Uncertain significance,1734826,,1,628744,0.0000015904724339317751,0,0,,,25.2,0.657,0.00,0.00,4.71,0.00,0.527,0,17694,0,0,0,43738,0,0,0,20982,0,0,0,36058,0,0,0,53134,0,0,0,4148,0,0,1,350100,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43104187-GGAT-G,17,43104187,rs2054629278,GGAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile125del,p.Ile125del,c.373_375del,inframe_deletion,Uncertain significance,1019499,,2,1461698,0.0000013682716949739275,0,0,,,18.6,,0.00,0.00,4.05,,,1,33478,0,0,0,44722,0,0,0,26134,0,0,1,39682,0,0,0,53398,0,0,0,5768,0,0,0,1111874,0,0,,,,,0,86250,0,0,0,60392,0,0 +17-43104188-G-A,17,43104188,rs1311672121,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile125Ile,p.Ile125Ile,c.375C>T,synonymous_variant,Likely benign,629047,,2,1613898,0.0000012392356889964546,0,0,,,8.72,,0.00,0.00,0.953,,,0,74912,0,0,0,59990,0,0,0,29604,0,0,0,44886,0,0,0,64002,0,0,0,6084,0,0,2,1179946,0,0,0,910,0,0,0,91082,0,0,0,62482,0,0 +17-43104190-T-C,17,43104190,rs587776489,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile125Val,p.Ile125Val,c.373A>G,missense_variant,Uncertain significance,156193,,2,780968,0.0000025609243912682723,0,0,,,22.6,0.574,0.00,0.00,2.97,0.0300,0.0270,1,59158,0,0,0,59030,0,0,0,24454,0,0,0,41260,0,0,0,63744,0,0,0,4464,0,0,1,418136,0,0,0,912,0,0,0,74622,0,0,0,35188,0,0 +17-43104191-G-A,17,43104191,rs273900715,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile124Ile,p.Ile124Ile,c.372C>T,synonymous_variant,Likely benign,1692965,,1,152184,0.000006570993008463439,0,0,,,12.4,,0.00,0.00,0.425,,,1,41458,0,0,0,15274,0,0,0,3472,0,0,0,5204,0,0,0,10610,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 +17-43104193-T-C,17,43104193,rs80357448,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile124Val,p.Ile124Val,c.370A>G,missense_variant,Benign,54971,,6,780968,0.000007682773173804816,0,0,eas,0.00003259,16.9,0.552,0.00,0.00,-0.0500,0.220,0.344,0,59160,0,0,0,59016,0,0,0,24454,0,0,4,41266,0,0,0,63754,0,0,0,4464,0,0,2,418130,0,0,0,912,0,0,0,74630,0,0,0,35182,0,0 +17-43104194-A-T,17,43104194,rs774583925,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser123Ser,p.Ser123Ser,c.369T>A,synonymous_variant,Likely benign,427329,,7,628736,0.000011133448697068404,1,0,amr,0.00007425999999999998,10.8,,0.00,0.00,0.518,,,0,17694,0,0,7,43740,1,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,0,350098,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43104195-G-A,17,43104195,rs1220408343,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser123Phe,p.Ser123Phe,c.368C>T,missense_variant,,,,1,628730,0.0000015905078491562355,0,0,,,26.8,0.707,0.00,0.00,8.74,0.00,0.862,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36056,0,0,0,53132,0,0,0,4148,0,0,1,350094,0,0,,,,,0,69794,0,0,0,33094,0,0 +17-43104197-A-C,17,43104197,rs190900046,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val122Val,p.Val122Val,c.366T>G,synonymous_variant,Likely benign,185214,,11,781030,0.000014083966044838226,0,0,amr,0.00006707999999999997,9.07,,0.00,0.00,0.265,,,0,59270,0,0,8,59034,0,0,0,24450,0,0,0,41252,0,0,0,63744,0,0,0,4442,0,0,0,418102,0,0,0,912,0,0,0,74616,0,0,3,35208,0,0 +17-43104200-T-C,17,43104200,rs1060504552,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu121Glu,p.Glu121Glu,c.363A>G,synonymous_variant,Likely benign,415545,,2,628734,0.0000031809954607194776,0,0,nfe,9.5e-7,6.89,,0.00,0.0100,0.244,,,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36058,0,0,0,53130,0,0,0,4148,0,0,2,350096,0,0,,,,,0,69794,0,0,0,33096,0,0 +17-43104203-A-G,17,43104203,rs2154549551,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp120Asp,p.Asp120Asp,c.360T>C,synonymous_variant,,,,1,832546,0.0000012011348321894526,0,0,,,8.57,,0.00,0.00,-0.611,,,0,15770,0,0,0,980,0,0,0,5152,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,1,761402,0,0,,,,,0,16446,0,0,0,27276,0,0 +17-43104204-T-C,17,43104204,rs587781491,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp120Gly,p.Asp120Gly,c.359A>G,missense_variant,Uncertain significance,141096,,2,628736,0.000003180985342019544,0,0,nfe,9.5e-7,24.8,0.565,0.130,0.150,4.68,0.00,0.0280,0,17694,0,0,0,43740,0,0,0,20978,0,0,0,36054,0,0,0,53132,0,0,0,4148,0,0,2,350098,0,0,,,,,0,69796,0,0,0,33096,0,0 +17-43104205-C-A,17,43104205,rs587782882,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp120Tyr,p.Asp120Tyr,c.358G>T,missense_variant,,,,1,152108,0.000006574276172193441,0,0,,,25.4,0.539,0.00,-0.0100,5.87,0.00,0.171,0,41428,0,0,0,15250,0,0,0,3470,0,0,0,5200,0,0,0,10606,0,0,0,314,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2092,0,0 +17-43104209-T-C,17,43104209,rs1320340280,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu118Leu,p.Leu118Leu,c.354A>G,synonymous_variant,Likely benign,462613,,3,152208,0.000019709870703248187,0,0,afr,0.000008,7.24,,0.00,0.00,0.165,,,2,41454,0,0,0,15274,0,0,0,3468,0,0,1,5206,0,0,0,10624,0,0,0,316,0,0,0,68036,0,0,0,910,0,0,0,4828,0,0,0,2092,0,0 +17-43104211-G-C,17,43104211,rs876659315,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu118Val,p.Leu118Val,c.352C>G,missense_variant,Uncertain significance,231713,,3,1460932,0.0000020534836665909158,0,0,nfe,7.200000000000001e-7,8.04,0.602,0.00,0.00,0.514,0.280,0.00,0,33460,0,0,0,44716,0,0,0,26126,0,0,0,39674,0,0,0,53402,0,0,0,5768,0,0,3,1111190,0,0,,,,,0,86234,0,0,0,60362,0,0 +17-43104212-A-T,17,43104212,rs2154549630,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His117Gln,p.His117Gln,c.351T>A,missense_variant,Uncertain significance,1697608,,1,832280,0.0000012015187196616523,0,0,,,6.95,0.634,0.00,0.00,-0.113,0.390,0.0790,0,15766,0,0,0,982,0,0,0,5148,0,0,0,3620,0,0,0,276,0,0,0,1620,0,0,0,761156,0,0,,,,,1,16446,0,0,0,27266,0,0 +17-43104213-T-A,17,43104213,rs2054632888,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His117Leu,p.His117Leu,c.350A>T,missense_variant,Conflicting interpretations of pathogenicity,859031,,3,628678,0.0000047719182156843405,0,0,sas,0.00000476,4.65,0.545,0.00,0.00,-0.772,0.340,0.00300,0,17692,0,0,0,43736,0,0,0,20978,0,0,0,36048,0,0,0,53130,0,0,0,4148,0,0,0,350084,0,0,,,,,2,69768,0,0,1,33094,0,0 +17-43104215-T-C,17,43104215,rs1453794570,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu116Glu,p.Glu116Glu,c.348A>G,synonymous_variant,Likely benign,2091648,,3,152202,0.000019710647691883155,0,0,afr,0.00001919,7.34,,0.00,0.00,0.530,,,3,41454,0,0,0,15268,0,0,0,3470,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,908,0,0,0,4828,0,0,0,2090,0,0 +17-43104216-TC-T,17,43104216,rs762635795,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu116AsnfsTer3,p.Glu116AsnfsTer3,c.346del,frameshift_variant,Pathogenic,252400,,1,628678,0.0000015906394052281136,0,0,,,28.9,,0.00,-0.0600,6.33,,,0,17694,0,0,0,43738,0,0,0,20978,0,0,0,36048,0,0,0,53128,0,0,0,4148,0,0,0,350086,0,0,,,,,1,69766,0,0,0,33092,0,0 +17-43104220-G-T,17,43104220,rs1468589409,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro115Thr,p.Pro115Thr,c.343C>A,missense_variant,Uncertain significance,462611,,1,628642,0.0000015907304952580323,0,0,,,20.8,0.588,0.00,0.00,2.53,0.0400,0.392,0,17694,0,0,0,43738,0,0,0,20980,0,0,0,36044,0,0,0,53110,0,0,0,4148,0,0,1,350078,0,0,,,,,0,69758,0,0,0,33092,0,0 +17-43104222-G-A,17,43104222,rs786202620,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser114Phe,p.Ser114Phe,c.341C>T,missense_variant,Uncertain significance,958403,,1,628612,0.0000015908064115861614,0,0,,,25.9,0.653,0.00,0.00,4.67,0.00,0.804,0,17694,0,0,0,43730,0,0,0,20980,0,0,1,36044,0,0,0,53120,0,0,0,4146,0,0,0,350072,0,0,,,,,0,69734,0,0,0,33092,0,0 +17-43104222-G-C,17,43104222,rs786202620,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser114Cys,p.Ser114Cys,c.341C>G,missense_variant,Uncertain significance,185998,,1,628612,0.0000015908064115861614,0,0,,,25.3,0.633,0.00,0.00,4.67,0.00,0.846,0,17694,0,0,1,43730,0,0,0,20980,0,0,0,36044,0,0,0,53120,0,0,0,4146,0,0,0,350072,0,0,,,,,0,69734,0,0,0,33092,0,0 +17-43104224-G-A,17,43104224,rs587779367,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Asn,p.Asn113Asn,c.339C>T,synonymous_variant,Likely benign,427299,,1,1460426,6.847317152666414e-7,0,0,,,7.87,,0.00,0.00,-0.209,,,0,33448,0,0,0,44704,0,0,0,26130,0,0,0,39666,0,0,0,53384,0,0,0,5762,0,0,1,1110840,0,0,,,,,0,86140,0,0,0,60352,0,0 +17-43104225-T-G,17,43104225,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Thr,p.Asn113Thr,c.338A>C,missense_variant,,,,1,628574,0.0000015909025826712528,0,0,,,18.0,0.568,0.00,0.00,0.739,0.0600,0.0330,1,17690,0,0,0,43720,0,0,0,20980,0,0,0,36046,0,0,0,53114,0,0,0,4146,0,0,0,350062,0,0,,,,,0,69724,0,0,0,33092,0,0 +17-43104225-T-C,17,43104225,rs587780800,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn113Ser,p.Asn113Ser,c.338A>G,missense_variant,Uncertain significance,136084,,2,628574,0.0000031818051653425056,0,0,sas,0.00000476,15.7,0.386,0.00,0.00,0.739,0.250,0.00500,0,17690,0,0,0,43720,0,0,0,20980,0,0,0,36046,0,0,0,53114,0,0,0,4146,0,0,0,350062,0,0,,,,,2,69724,0,0,0,33092,0,0 +17-43104229-T-C,17,43104229,rs587782017,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn112Asp,p.Asn112Asp,c.334A>G,missense_variant,Uncertain significance,141794,,3,832162,0.000003605067282572384,0,0,nfe,4.4e-7,21.7,0.447,0.00,0.00,2.92,0.0800,0.00300,0,15760,0,0,0,982,0,0,0,5148,0,0,0,3622,0,0,0,276,0,0,0,1620,0,0,2,761046,0,0,,,,,0,16438,0,0,1,27270,0,0 +17-43104231-T-G,17,43104231,rs80357312,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Ala,p.Glu111Ala,c.332A>C,missense_variant,Uncertain significance,54844,,4,1460436,0.0000027389081068941057,0,0,nfe,8.4e-7,24.0,0.608,0.00,0.00,0.291,0.0100,0.217,0,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,4,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 +17-43104231-T-A,17,43104231,rs80357312,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Val,p.Glu111Val,c.332A>T,missense_variant,Uncertain significance,496365,,1,1460436,6.847270267235264e-7,0,0,,,29.8,0.615,0.130,0.130,0.291,0.00,0.527,1,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,0,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 +17-43104231-T-C,17,43104231,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Gly,p.Glu111Gly,c.332A>G,missense_variant,,,,2,1460436,0.0000013694540534470528,0,0,nfe,2.999999999999999e-7,22.9,0.554,0.00,0.00,0.291,0.0300,0.217,0,33450,0,0,0,44708,0,0,0,26126,0,0,0,39672,0,0,0,53384,0,0,0,5762,0,0,2,1110822,0,0,,,,,0,86164,0,0,0,60348,0,0 +17-43104232-C-G,17,43104232,rs1414264431,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu111Gln,p.Glu111Gln,c.331G>C,missense_variant,,,,1,628498,0.0000015910949597293866,0,0,,,15.4,0.574,0.00,0.00,1.10,0.190,0.366,0,17694,0,0,0,43700,0,0,0,20978,0,0,0,36046,0,0,0,53100,0,0,0,4146,0,0,0,350038,0,0,,,,,1,69706,0,0,0,33090,0,0 +17-43104233-C-T,17,43104233,rs878854947,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys110Lys,p.Lys110Lys,c.330G>A,synonymous_variant,Likely benign,240791,,1,151936,0.000006581718618365627,0,0,,,9.64,,0.00,0.00,1.57,,,1,41370,0,0,0,15226,0,0,0,3470,0,0,0,5202,0,0,0,10552,0,0,0,316,0,0,0,67990,0,0,0,912,0,0,0,4826,0,0,0,2072,0,0 +17-43104237-T-C,17,43104237,rs750275408,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys109Arg,p.Lys109Arg,c.326A>G,missense_variant,,,,1,628476,0.0000015911506565087609,0,0,,,24.4,0.585,0.00,0.00,3.70,0.0300,0.00500,0,17692,0,0,0,43722,0,0,0,20976,0,0,0,36046,0,0,0,53100,0,0,0,4146,0,0,0,350028,0,0,,,,,1,69680,0,0,0,33086,0,0 +17-43104241-C-T,17,43104241,rs2154549989,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala108Thr,p.Ala108Thr,c.322G>A,missense_variant,Uncertain significance,1729175,,1,628234,0.0000015917635785392067,0,0,,,23.0,0.510,0.00,0.00,1.47,0.0200,0.0570,0,17670,0,0,1,43662,0,0,0,20974,0,0,0,36040,0,0,0,53066,0,0,0,4140,0,0,0,349968,0,0,,,,,0,69634,0,0,0,33080,0,0 +17-43104244-A-T,17,43104244,rs878854944,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe107Ile,p.Phe107Ile,c.319T>A,missense_variant,Uncertain significance,240788,,1,628256,0.0000015917078388427647,0,0,,,25.1,0.631,0.00,0.00,3.65,0.0400,0.630,0,17682,0,0,0,43690,0,0,0,20976,0,0,0,36040,0,0,0,53074,0,0,0,4142,0,0,1,349982,0,0,,,,,0,69592,0,0,0,33078,0,0 +17-43104248-A-G,17,43104248,rs2054639807,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr105Tyr,p.Tyr105Tyr,c.315T>C,synonymous_variant,Likely benign,921198,,1,1458418,6.856744774131971e-7,0,0,,,1.19,,0.00,0.00,-3.63,,,0,33402,0,0,0,44682,0,0,0,26118,0,0,0,39648,0,0,0,53324,0,0,0,5760,0,0,0,1109168,0,0,,,,,0,86026,0,0,1,60290,0,0 +17-43104248-A-T,17,43104248,rs2054639807,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr105Ter,p.Tyr105Ter,c.315T>A,stop_gained,,,,1,1458418,6.856744774131971e-7,0,0,,,24.5,,0.00,-0.0300,-3.63,,,0,33402,0,0,0,44682,0,0,0,26118,0,0,0,39648,0,0,0,53324,0,0,0,5760,0,0,0,1109168,0,0,,,,,1,86026,0,0,0,60290,0,0 +17-43104249-T-C,17,43104249,rs28897673,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr105Cys,p.Tyr105Cys,c.314A>G,missense_variant,Benign,54780,,291,1610448,0.00018069506125003725,1,0,nfe,0.00021089,25.4,0.632,0.00,0.00,1.34,0.0600,0.196,0,74864,0,0,6,59968,0,0,0,29588,0,0,0,44856,0,0,0,63932,0,0,3,6076,1,0,275,1177008,0,0,0,912,0,0,0,90854,0,0,7,62390,0,0 +17-43104251-G-T,17,43104251,rs766484283,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser104Arg,p.Ser104Arg,c.312C>A,missense_variant,Uncertain significance,433689,,1,628232,0.000001591768645977919,0,0,,,23.9,0.588,0.00,0.00,1.14,0.0100,0.416,0,17684,0,0,0,43710,0,0,0,20978,0,0,0,36032,0,0,0,53008,0,0,0,4140,0,0,1,349982,0,0,,,,,0,69614,0,0,0,33084,0,0 +17-43104253-T-C,17,43104253,rs753342801,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser104Gly,p.Ser104Gly,c.310A>G,missense_variant,,,,2,1609382,0.0000012427130414034703,0,0,,,19.2,0.538,0.00,0.00,2.98,0.150,0.0950,1,74816,0,0,0,59928,0,0,0,29584,0,0,0,44848,0,0,0,63896,0,0,0,6074,0,0,1,1176198,0,0,0,912,0,0,0,90790,0,0,0,62336,0,0 +17-43104253-T-G,17,43104253,rs753342801,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser104Arg,p.Ser104Arg,c.310A>C,missense_variant,Uncertain significance,849557,,1,1457226,6.862353540219568e-7,0,0,,,24.3,0.600,0.00,0.00,2.98,0.0100,0.416,0,33378,0,0,1,44666,0,0,0,26114,0,0,0,39646,0,0,0,53290,0,0,0,5758,0,0,0,1108166,0,0,,,,,0,85960,0,0,0,60248,0,0 +17-43104254-G-C,17,43104254,rs876659814,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn103Lys,p.Asn103Lys,c.309C>G,missense_variant,,,,1,1456954,6.863634678926034e-7,0,0,,,23.0,0.579,0.00,0.00,0.424,0.00,0.0530,0,33376,0,0,0,44650,0,0,0,26114,0,0,0,39644,0,0,0,53272,0,0,0,5756,0,0,1,1107972,0,0,,,,,0,85940,0,0,0,60230,0,0 +17-43104254-G-A,17,43104254,rs876659814,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn103Asn,p.Asn103Asn,c.309C>T,synonymous_variant,Likely benign,232515,,1,1456954,6.863634678926034e-7,0,0,,,12.4,,0.00,-0.0100,0.424,,,0,33376,0,0,0,44650,0,0,0,26114,0,0,0,39644,0,0,0,53272,0,0,0,5756,0,0,1,1107972,0,0,,,,,0,85940,0,0,0,60230,0,0 +17-43104257-T-G,17,43104257,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Ala,p.Ala102Ala,c.306A>C,synonymous_variant,,,,1,829362,0.000001205746103631466,0,0,,,13.2,,0.00,0.00,2.38,,,0,15698,0,0,0,976,0,0,0,5134,0,0,0,3612,0,0,0,276,0,0,0,1618,0,0,1,758504,0,0,,,,,0,16370,0,0,0,27174,0,0 +17-43104258-G-A,17,43104258,rs80357190,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Val,p.Ala102Val,c.305C>T,missense_variant,Uncertain significance,1799342,,1,1457078,6.863050571074438e-7,0,0,,,20.6,0.618,0.00,0.00,4.04,0.290,0.109,1,33372,0,0,0,44642,0,0,0,26112,0,0,0,39636,0,0,0,53254,0,0,0,5756,0,0,0,1108120,0,0,,,,,0,85932,0,0,0,60254,0,0 +17-43104258-G-C,17,43104258,rs80357190,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala102Gly,p.Ala102Gly,c.305C>G,missense_variant,Benign,37505,,4,1457078,0.0000027452202284297753,0,0,,,23.5,0.606,0.00,0.00,4.04,0.0700,0.0230,1,33372,0,0,0,44642,0,0,0,26112,0,0,0,39636,0,0,0,53254,0,0,0,5756,0,0,0,1108120,0,0,,,,,0,85932,0,0,3,60254,0,0 +17-43104260-A-G,17,43104260,rs80356936,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr101Tyr,p.Tyr101Tyr,c.303T>C,splice_region_variant,Likely benign,427330,,2,981102,0.000002038524027063445,0,0,,,16.3,,0.00,0.00,3.69,,,1,57156,0,0,1,16256,0,0,0,8610,0,0,0,8812,0,0,0,10894,0,0,0,1932,0,0,0,826082,0,0,0,912,0,0,0,21188,0,0,0,29260,0,0 +17-43104261-T-C,17,43104261,rs587781798,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Tyr101Cys,p.Tyr101Cys,c.302A>G,missense_variant,Uncertain significance,141504,,3,780262,0.000003844862366743478,0,0,nfe,0.0000019100000000000003,22.0,0.563,0.00,-0.0100,2.88,0.0400,0.112,0,59132,0,0,0,58952,0,0,0,24444,0,0,0,41228,0,0,0,63588,0,0,0,4452,0,0,3,417980,0,0,0,910,0,0,0,74416,0,0,0,35160,0,0 +17-43104262-CT-C,17,43104262,rs273899695,CT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-2del,,c.302-2del,splice_acceptor_variant,Pathogenic,54753,,4,779998,0.000005128218277482763,0,0,,,33.0,,1.00,-0.900,7.04,,,0,59062,0,0,0,58912,0,0,0,24448,0,0,0,41214,0,0,0,63520,0,0,0,4452,0,0,2,417952,0,0,0,912,0,0,0,74376,0,0,2,35150,0,0 +17-43104262-C-T,17,43104262,rs80358116,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-1G>A,,c.302-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,54750,,1,627964,0.0000015924479747246656,0,0,,,34.0,,1.00,-0.900,7.04,,,1,17672,0,0,0,43662,0,0,0,20976,0,0,0,36016,0,0,0,52948,0,0,0,4136,0,0,0,349944,0,0,,,,,0,69544,0,0,0,33066,0,0 +17-43104264-G-A,17,43104264,rs80358051,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-3C>T,,c.302-3C>T,splice_region_variant,Conflicting interpretations of pathogenicity,1022202,,3,828438,0.0000036212728049654892,0,0,nfe,4.4e-7,9.74,,0.00,0.0100,0.868,,,1,15678,0,0,0,976,0,0,0,5134,0,0,0,3604,0,0,0,276,0,0,0,1616,0,0,2,757652,0,0,,,,,0,16354,0,0,0,27148,0,0 +17-43104266-A-G,17,43104266,rs778668665,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-5T>C,,c.302-5T>C,splice_region_variant,Conflicting interpretations of pathogenicity,230861,,2,1608662,0.0000012432692510919011,0,0,,,11.8,,0.00,-0.0100,1.20,,,0,74800,0,0,0,59904,0,0,0,29576,0,0,0,44826,0,0,0,63832,0,0,1,6066,0,0,1,1175686,0,0,0,912,0,0,0,90734,0,0,0,62326,0,0 +17-43104266-A-T,17,43104266,rs778668665,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-5T>A,,c.302-5T>A,splice_region_variant,Conflicting interpretations of pathogenicity,462599,,19,1608662,0.000011811057885373062,0,0,sas,0.00012763,15.1,,0.00,0.0100,1.20,,,0,74800,0,0,0,59904,0,0,0,29576,0,0,0,44826,0,0,0,63832,0,0,0,6066,0,0,0,1175686,0,0,0,912,0,0,18,90734,0,0,1,62326,0,0 +17-43104269-A-G,17,43104269,rs878854942,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-8T>C,,c.302-8T>C,splice_region_variant,Conflicting interpretations of pathogenicity,531505,,1,627722,0.0000015930618968269393,0,0,,,9.97,,0.00,0.0100,2.19,,,0,17664,0,0,0,43644,0,0,0,20968,0,0,0,36024,0,0,0,52914,0,0,0,4114,0,0,0,349898,0,0,,,,,0,69430,0,0,1,33066,0,0 +17-43104270-T-C,17,43104270,rs1389128798,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-9A>G,,c.302-9A>G,intron_variant,Conflicting interpretations of pathogenicity,531486,,2,980388,0.0000020400086496366743,0,0,,,7.98,,0.00,0.00,0.735,,,2,57082,0,0,0,16222,0,0,0,8602,0,0,0,8804,0,0,0,10846,0,0,0,1932,0,0,0,825570,0,0,0,912,0,0,0,21176,0,0,0,29242,0,0 +17-43104271-A-T,17,43104271,rs747733248,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-10T>A,,c.302-10T>A,intron_variant,Likely benign,462598,,19,1607654,0.000011818463425587844,0,0,sas,0.0001279,5.95,,0.00,0.0100,2.20,,,0,74758,0,0,0,59842,0,0,0,29568,0,0,0,44828,0,0,0,63774,0,0,0,6028,0,0,0,1175122,0,0,0,912,0,0,18,90538,0,0,1,62284,0,0 +17-43104271-A-G,17,43104271,rs747733248,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-10T>C,,c.302-10T>C,intron_variant,Likely benign,386408,,1,1455460,6.87068005991233e-7,0,0,,,6.30,,0.00,0.0100,2.20,,,0,33302,0,0,0,44564,0,0,0,26096,0,0,0,39624,0,0,0,53168,0,0,0,5712,0,0,1,1107092,0,0,,,,,0,85708,0,0,0,60194,0,0 +17-43104272-C-T,17,43104272,rs1057521776,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-11G>A,,c.302-11G>A,intron_variant,Conflicting interpretations of pathogenicity,383900,,2,779264,0.0000025665243101182655,0,0,,,0.709,,0.00,0.00,-0.402,,,2,59004,0,0,0,58818,0,0,0,24434,0,0,0,41192,0,0,0,63438,0,0,0,4408,0,0,0,417754,0,0,0,912,0,0,0,74180,0,0,0,35124,0,0 +17-43104276-G-A,17,43104276,rs1057520871,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-15C>T,,c.302-15C>T,intron_variant,,,,1,1455330,6.871293795908832e-7,0,0,,,0.550,,0.00,0.00,0.977,,,0,33308,0,0,0,44574,0,0,0,26094,0,0,0,39614,0,0,1,53086,0,0,0,5696,0,0,0,1107002,0,0,,,,,0,85772,0,0,0,60184,0,0 +17-43104277-GA-G,17,43104277,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-17del,,c.302-17del,intron_variant,,,,1,827768,0.000001208067961071218,0,0,,,2.12,,0.00,0.00,0.0900,,,0,15646,0,0,0,974,0,0,0,5126,0,0,0,3610,0,0,0,276,0,0,0,1610,0,0,1,757056,0,0,,,,,0,16334,0,0,0,27136,0,0 +17-43104282-CATT-C,17,43104282,rs756577139,CATT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-24_302-22del,,c.302-24_302-22del,intron_variant,Likely benign,491056,,8,1605930,0.00000498153717783465,0,0,nfe,0.00000248,5.28,,0.00,0.00,-1.76,,,0,74626,0,0,1,59706,0,0,0,29550,0,0,0,44796,0,0,0,63588,0,0,0,5940,0,0,7,1174142,0,0,0,910,0,0,0,90464,0,0,0,62208,0,0 +17-43104283-A-G,17,43104283,rs758108974,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-22T>C,,c.302-22T>C,intron_variant,Likely benign,627760,,7,1606044,0.000004358535631651437,0,0,nfe,0.00000248,2.59,,0.00,0.00,0.670,,,0,74672,0,0,0,59752,0,0,0,29550,0,0,0,44810,0,0,0,63628,0,0,0,5924,0,0,7,1174118,0,0,0,912,0,0,0,90472,0,0,0,62206,0,0 +17-43104284-T-C,17,43104284,rs781404807,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-23A>G,,c.302-23A>G,intron_variant,Likely benign,491055,,4,1453410,0.0000027521483958415037,0,0,nfe,8.500000000000001e-7,4.82,,0.210,0.0600,-0.327,,,0,33206,0,0,0,44472,0,0,0,26080,0,0,0,39614,0,0,0,52978,0,0,0,5606,0,0,4,1105716,0,0,,,,,0,85628,0,0,0,60110,0,0 +17-43104287-T-C,17,43104287,rs1597897348,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-26A>G,,c.302-26A>G,intron_variant,,,,3,1604404,0.0000018698532289872127,0,0,,,10.4,,0.00,0.00,0.255,,,2,74596,0,0,0,59654,0,0,0,29540,0,0,1,44822,0,0,0,63488,0,0,0,5872,0,0,0,1173028,0,0,0,912,0,0,0,90346,0,0,0,62146,0,0 +17-43104288-G-T,17,43104288,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-27C>A,,c.302-27C>A,intron_variant,,,,1,1451782,6.888086503345543e-7,0,0,,,4.59,,0.00,0.00,0.627,,,0,33116,0,0,0,44366,0,0,0,26064,0,0,0,39602,0,0,1,52832,0,0,0,5552,0,0,0,1104694,0,0,,,,,0,85498,0,0,0,60058,0,0 +17-43104292-G-A,17,43104292,rs1319642104,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-31C>T,,c.302-31C>T,intron_variant,,,,6,1600944,0.000003747788804605283,0,0,afr,0.000025620000000000002,0.496,,0.00,0.00,-0.568,,,5,74428,0,0,0,59542,0,0,0,29506,0,0,0,44790,0,0,0,63278,0,0,0,5780,0,0,1,1170540,0,0,0,912,0,0,0,90168,0,0,0,62000,0,0 +17-43104293-C-T,17,43104293,rs202171570,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.302-32G>A,,c.302-32G>A,intron_variant,,,,1,152160,0.000006572029442691903,0,0,,,0.764,,0.00,0.00,-1.84,,,0,41528,0,0,0,15268,0,0,0,3470,0,0,1,5186,0,0,0,10582,0,0,0,292,0,0,0,67988,0,0,0,912,0,0,0,4822,0,0,0,2112,0,0 +17-43104293-C-A,17,43104293,rs202171570,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-32G>T,,c.302-32G>T,intron_variant,,,,2,1447908,0.0000013813032319733022,0,0,nfe,2.999999999999999e-7,0.567,,0.00,0.00,-1.84,,,0,32974,0,0,0,44228,0,0,0,26028,0,0,0,39580,0,0,0,52624,0,0,0,5440,0,0,2,1101894,0,0,,,,,0,85274,0,0,0,59866,0,0 +17-43104297-T-C,17,43104297,rs1256882250,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-36A>G,,c.302-36A>G,intron_variant,,,,1,625320,0.0000015991812192157616,0,0,,,6.73,,0.00,0.00,1.08,,,0,17486,0,0,1,43312,0,0,0,20938,0,0,0,36000,0,0,0,52262,0,0,0,3778,0,0,0,349426,0,0,,,,,0,69202,0,0,0,32916,0,0 +17-43104299-G-C,17,43104299,rs1251987547,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-38C>G,,c.302-38C>G,intron_variant,,,,1,1440636,6.941378668865696e-7,0,0,,,3.80,,0.00,0.00,1.22,,,0,32776,0,0,0,44186,0,0,0,25984,0,0,0,39538,0,0,0,52416,0,0,0,5348,0,0,1,1095596,0,0,,,,,0,85200,0,0,0,59592,0,0 +17-43104301-G-GA,17,43104301,rs2054645408,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-41dup,,c.302-41dup,intron_variant,,,,2,1437958,0.0000013908612073509796,0,0,nfe,2.999999999999999e-7,7.29,,0.00,0.00,1.12,,,0,32680,0,0,0,44088,0,0,0,25952,0,0,0,39506,0,0,0,52328,0,0,0,5310,0,0,2,1093490,0,0,,,,,0,85106,0,0,0,59498,0,0 +17-43104301-G-A,17,43104301,rs868177769,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-40C>T,,c.302-40C>T,intron_variant,,,,2,1437958,0.0000013908612073509796,0,0,nfe,2.999999999999999e-7,4.33,,0.00,0.00,1.12,,,0,32680,0,0,0,44088,0,0,0,25952,0,0,0,39506,0,0,0,52328,0,0,0,5310,0,0,2,1093490,0,0,,,,,0,85106,0,0,0,59498,0,0 +17-43104302-A-G,17,43104302,rs8176135,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-41T>C,,c.302-41T>C,intron_variant,Benign,264792,,1473,1589052,0.0009269677770142198,31,0,sas,0.01488825,10.4,,0.00,0.00,3.33,,,3,74268,0,0,6,59504,0,0,2,29426,0,0,1,44690,0,0,0,62896,0,0,4,5568,0,0,10,1160186,0,0,0,912,0,0,1401,90002,31,0,46,61600,0,0 +17-43104307-T-C,17,43104307,rs775978427,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-46A>G,,c.302-46A>G,intron_variant,,,,1,623952,0.0000016026873862091957,0,0,,,8.81,,0.00,0.00,-0.332,,,0,17446,0,0,0,43206,0,0,0,20926,0,0,0,35974,0,0,0,51772,0,0,0,3540,0,0,1,349072,0,0,,,,,0,69156,0,0,0,32860,0,0 +17-43104308-G-T,17,43104308,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-47C>A,,c.302-47C>A,intron_variant,,,,1,1427498,7.005263755185647e-7,0,0,,,1.92,,0.00,0.00,-0.769,,,0,32474,0,0,0,44088,0,0,0,25906,0,0,0,39456,0,0,0,51918,0,0,0,5096,0,0,1,1084422,0,0,,,,,0,84952,0,0,0,59186,0,0 +17-43104310-A-G,17,43104310,rs749322383,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-49T>C,,c.302-49T>C,intron_variant,,,,1,1421224,7.036188524820859e-7,0,0,,,12.6,,0.00,0.00,2.25,,,0,32292,0,0,0,43908,0,0,0,25846,0,0,0,39428,0,0,0,51654,0,0,0,4938,0,0,1,1079512,0,0,,,,,0,84680,0,0,0,58966,0,0 +17-43104310-A-C,17,43104310,rs749322383,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-49T>G,,c.302-49T>G,intron_variant,,,,9,1421224,0.000006332569672338773,0,0,amr,0.00010601999999999998,12.7,,0.00,0.00,2.25,,,0,32292,0,0,9,43908,0,0,0,25846,0,0,0,39428,0,0,0,51654,0,0,0,4938,0,0,0,1079512,0,0,,,,,0,84680,0,0,0,58966,0,0 +17-43104312-G-A,17,43104312,rs1472415736,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-51C>T,,c.302-51C>T,intron_variant,,,,4,1572446,0.0000025438075456963228,0,0,eas,0.00001783,6.78,,0.00,0.00,-0.169,,,1,73700,0,0,0,59130,0,0,0,29316,0,0,3,44616,0,0,0,62116,0,0,0,5262,0,0,0,1146938,0,0,0,912,0,0,0,89438,0,0,0,61018,0,0 +17-43104312-G-C,17,43104312,rs1472415736,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-51C>G,,c.302-51C>G,intron_variant,,,,2,1420398,0.0000014080560518953139,0,0,,,6.40,,0.00,0.00,-0.169,,,0,32282,0,0,0,43894,0,0,0,25844,0,0,0,39420,0,0,0,51544,0,0,0,4948,0,0,1,1078930,0,0,,,,,0,84604,0,0,1,58932,0,0 +17-43104314-A-C,17,43104314,rs950900588,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-53T>G,,c.302-53T>G,intron_variant,,,,6,1415752,0.000004238030389503246,0,0,sas,0.00003051,9.99,,0.00,0.00,-0.624,,,0,32156,0,0,0,43600,0,0,0,25792,0,0,0,39372,0,0,0,51366,0,0,0,4850,0,0,0,1075502,0,0,,,,,6,84360,0,0,0,58754,0,0 +17-43104318-T-C,17,43104318,rs2154550478,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-57A>G,,c.302-57A>G,intron_variant,,,,2,1406678,0.0000014217894926912912,0,0,,,12.5,,0.00,0.00,-0.847,,,0,31928,0,0,1,43370,0,0,0,25702,0,0,0,39284,0,0,0,51094,0,0,1,4730,0,0,0,1068122,0,0,,,,,0,84036,0,0,0,58412,0,0 +17-43104322-C-A,17,43104322,rs2054646488,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-61G>T,,c.302-61G>T,intron_variant,,,,2,1387444,0.0000014414996208855996,0,0,,,7.51,,0.00,0.00,1.17,,,1,31480,0,0,0,42786,0,0,0,25542,0,0,0,39126,0,0,0,50312,0,0,0,4514,0,0,1,1052690,0,0,,,,,0,83264,0,0,0,57730,0,0 +17-43104323-A-T,17,43104323,rs1297110986,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-62T>A,,c.302-62T>A,intron_variant,,,,5,1541698,0.0000032431773278553908,0,0,nfe,0.00000131,15.2,,0.00,0.00,0.726,,,0,73002,0,0,0,58056,0,0,0,29022,0,0,0,44348,0,0,0,60986,0,0,0,4844,0,0,5,1122434,0,0,0,912,0,0,0,88172,0,0,0,59922,0,0 +17-43104325-AG-A,17,43104325,rs1247247577,AG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-65del,,c.302-65del,intron_variant,,,,7,1485352,0.000004712687632291875,0,0,nfe,0.00000136,9.84,,0.00,0.00,1.47,,,0,71716,0,0,0,56886,0,0,0,28610,0,0,0,43904,0,0,0,59790,0,0,0,4480,0,0,5,1074466,0,0,0,912,0,0,0,86502,0,0,2,58086,0,0 +17-43104326-G-T,17,43104326,rs2054646610,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-65C>A,,c.302-65C>A,intron_variant,,,,2,1334320,0.0000014988908207926135,0,0,nfe,3.3e-7,11.6,,0.00,0.00,1.10,,,0,30284,0,0,0,41584,0,0,0,25158,0,0,0,38708,0,0,0,49088,0,0,0,4174,0,0,2,1007644,0,0,,,,,0,81644,0,0,0,56036,0,0 +17-43104331-C-T,17,43104331,rs147809611,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-70G>A,,c.302-70G>A,intron_variant,Benign,209487,,182,1492554,0.00012193863672604141,0,0,eas,0.00227287,16.4,,0.00,0.00,0.747,,,0,71854,0,0,1,56862,0,0,0,28636,0,0,117,43904,0,0,0,59650,0,0,1,4470,0,0,1,1081410,0,0,0,912,0,0,46,86534,0,0,16,58322,0,0 +17-43104331-C-A,17,43104331,rs147809611,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-70G>T,,c.302-70G>T,intron_variant,,,,1,1340478,7.460025453606848e-7,0,0,,,16.0,,0.00,0.00,0.747,,,0,30384,0,0,0,41592,0,0,0,25166,0,0,0,38718,0,0,0,49082,0,0,0,4176,0,0,1,1013432,0,0,,,,,0,81714,0,0,0,56214,0,0 +17-43104332-A-G,17,43104332,rs1483725959,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.302-71T>C,,c.302-71T>C,intron_variant,,,,7,1498180,0.000004672335767397776,0,0,nfe,0.0000026800000000000006,14.5,,0.00,0.00,0.461,,,0,71954,0,0,0,56900,0,0,0,28676,0,0,0,43978,0,0,0,59770,0,0,0,4516,0,0,7,1086298,0,0,0,912,0,0,0,86726,0,0,0,58450,0,0 +17-43104334-G-A,17,43104334,rs2054647254,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-73C>T,,c.302-73C>T,intron_variant,,,,1,1341366,7.455086829396302e-7,0,0,,,10.5,,0.00,0.00,0.345,,,0,30380,0,0,0,41344,0,0,0,25154,0,0,0,38698,0,0,0,48832,0,0,0,4156,0,0,1,1015008,0,0,,,,,0,81576,0,0,0,56218,0,0 +17-43104336-G-A,17,43104336,rs2154550524,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-75C>T,,c.302-75C>T,intron_variant,,,,1,1320460,7.573118458718932e-7,0,0,,,10.4,,0.00,0.00,0.262,,,1,29886,0,0,0,40940,0,0,0,24980,0,0,0,38534,0,0,0,48216,0,0,0,4060,0,0,0,997242,0,0,,,,,0,81034,0,0,0,55568,0,0 +17-43104336-G-GC,17,43104336,,G,GC,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.302-76_302-75insG,,c.302-76_302-75insG,intron_variant,,,,2,1320444,0.000001514642044645589,0,0,sas,0.0000041,15.6,,0.00,0.00,0.262,,,0,29886,0,0,0,40940,0,0,0,24980,0,0,0,38534,0,0,0,48216,0,0,0,4060,0,0,0,997226,0,0,,,,,2,81034,0,0,0,55568,0,0 +17-43104793-G-C,17,43104793,rs2154551136,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+75C>G,,c.301+75C>G,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,1.71,,0.0100,0.0200,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,1,1048,0,0,0,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 +17-43104793-GA-G,17,43104793,rs2054665206,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+74del,,c.301+74del,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,3.81,,0.0100,-0.0400,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,0,1048,0,0,1,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 +17-43104793-G-T,17,43104793,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+75C>A,,c.301+75C>A,intron_variant,,,,1,528246,0.000001893057401286522,0,0,,,1.56,,0.00,0.0100,1.66,,,0,9482,0,0,0,580,0,0,0,3224,0,0,0,2248,0,0,0,176,0,0,0,1048,0,0,1,484020,0,0,,,,,0,10176,0,0,0,17292,0,0 +17-43104799-AAT-A,17,43104799,rs2054665327,AAT,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+67_301+68del,,c.301+67_301+68del,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,3.17,,0.00,0.0300,0.825,,,0,41470,0,0,0,15276,0,0,0,3472,0,0,0,5198,0,0,0,10624,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43104800-AT-A,17,43104800,rs1392904142,AT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+67del,,c.301+67del,intron_variant,,,,4,1355850,0.0000029501788545930597,0,0,nfe,9.9e-7,0.0130,,0.00,0.0200,0.667,,,0,69508,0,0,0,59624,0,0,0,27936,0,0,0,43658,0,0,0,63058,0,0,0,5590,0,0,4,945792,0,0,0,912,0,0,0,85718,0,0,0,54054,0,0 +17-43104802-T-C,17,43104802,rs2054665560,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+66A>G,,c.301+66A>G,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,2.11,,0.0100,-0.0200,-0.0620,,,0,41454,0,0,0,15278,0,0,0,3470,0,0,1,5200,0,0,0,10628,0,0,0,316,0,0,0,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43104802-T-TGAC,17,43104802,rs2054665691,T,TGAC,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+65_301+66insGTC,,c.301+65_301+66insGTC,intron_variant,,,,1,152226,0.000006569180034948038,0,0,,,0.389,,0.0300,-0.0200,-0.0620,,,0,41454,0,0,0,15278,0,0,0,3470,0,0,0,5200,0,0,0,10628,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43104803-G-T,17,43104803,rs2154551184,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+65C>A,,c.301+65C>A,intron_variant,,,,1,1236884,8.084832530778958e-7,0,0,,,0.108,,0.00,0.0100,-0.00800,,,0,28732,0,0,0,44406,0,0,0,24664,0,0,0,38608,0,0,0,52462,0,0,0,5330,0,0,1,908206,0,0,,,,,0,81528,0,0,0,52948,0,0 +17-43104804-T-C,17,43104804,rs1433828217,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+64A>G,,c.301+64A>G,intron_variant,,,,1,152230,0.000006569007422978388,0,0,,,1.34,,0.0100,-0.0200,-1.96,,,1,41464,0,0,0,15270,0,0,0,3470,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43104809-A-G,17,43104809,rs2154551219,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+59T>C,,c.301+59T>C,intron_variant,,,,21,1307976,0.00001605534046496266,0,0,nfe,0.00001387,12.3,,0.0100,-0.0200,0.320,,,0,30220,0,0,0,44518,0,0,0,25190,0,0,0,38922,0,0,0,52764,0,0,0,5464,0,0,21,972544,0,0,,,,,0,83066,0,0,0,55288,0,0 +17-43104810-C-T,17,43104810,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+58G>A,,c.301+58G>A,intron_variant,,,,1,627722,0.0000015930618968269393,0,0,,,9.04,,0.00,0.0100,-0.220,,,0,17672,0,0,0,43730,0,0,0,20958,0,0,0,35986,0,0,0,52528,0,0,1,4142,0,0,0,349890,0,0,,,,,0,69754,0,0,0,33062,0,0 +17-43104813-C-T,17,43104813,rs868735744,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+55G>A,,c.301+55G>A,intron_variant,Benign,433688,,78,1480314,0.000052691523555137626,0,0,amr,0.00005448999999999998,8.67,,0.00,0.0200,0.556,,,0,72182,0,0,7,59820,0,0,0,28782,0,0,0,44204,0,0,0,63450,0,0,35,5792,0,0,29,1058782,0,0,0,910,0,0,1,88272,0,0,6,58120,0,0 +17-43104815-T-C,17,43104815,rs2154551240,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+53A>G,,c.301+53A>G,intron_variant,,,,1,1344152,7.439634803206781e-7,0,0,,,5.83,,0.00,0.0100,-1.25,,,0,30962,0,0,0,44566,0,0,0,25414,0,0,0,39088,0,0,0,52932,0,0,0,5528,0,0,0,1005312,0,0,,,,,0,83810,0,0,1,56540,0,0 +17-43104816-G-A,17,43104816,rs1449227369,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+52C>T,,c.301+52C>T,intron_variant,,,,2,1497280,0.0000013357555033126736,0,0,,,7.33,,0.00,0.0500,0.316,,,0,72464,0,0,0,59836,0,0,0,28886,0,0,0,44300,0,0,0,63516,0,0,0,5846,0,0,2,1074202,0,0,0,910,0,0,0,88648,0,0,0,58672,0,0 +17-43104816-G-T,17,43104816,rs1449227369,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+52C>A,,c.301+52C>A,intron_variant,,,,3,1345074,0.000002230360560088144,0,0,,,6.83,,0.00,0.0200,0.316,,,0,31014,0,0,0,44562,0,0,0,25414,0,0,0,39096,0,0,0,52898,0,0,2,5530,0,0,0,1006170,0,0,,,,,0,83812,0,0,1,56578,0,0 +17-43104816-GA-G,17,43104816,,GA,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+51del,,c.301+51del,intron_variant,,,,5,1345076,0.0000037172620729237606,0,0,nfe,0.0000014600000000000002,8.26,,0.00,-0.0400,0.316,,,0,31014,0,0,0,44562,0,0,0,25414,0,0,0,39096,0,0,0,52898,0,0,0,5530,0,0,5,1006172,0,0,,,,,0,83812,0,0,0,56578,0,0 +17-43104822-TC-T,17,43104822,,TC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+45del,,c.301+45del,intron_variant,,,,1,628136,0.0000015920119209852643,0,0,,,0.298,,0.00,0.0700,0.321,,,0,17680,0,0,0,43734,0,0,0,20972,0,0,0,35996,0,0,0,52770,0,0,0,4144,0,0,1,349978,0,0,,,,,0,69786,0,0,0,33076,0,0 +17-43104824-A-G,17,43104824,rs1414568972,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.301+44T>C,,c.301+44T>C,intron_variant,,,,1,152246,0.0000065683170658014006,0,0,,,7.80,,0.0300,-0.0300,0.368,,,0,41466,0,0,1,15282,0,0,0,3472,0,0,0,5204,0,0,0,10628,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43104826-G-A,17,43104826,rs2154551271,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+42C>T,,c.301+42C>T,intron_variant,,,,1,760306,0.0000013152599085105207,0,0,,,4.84,,0.00,0.0400,0.847,,,0,14200,0,0,0,870,0,0,0,4696,0,0,0,3282,0,0,0,258,0,0,0,1474,0,0,1,695672,0,0,,,,,0,14920,0,0,0,24934,0,0 +17-43104828-A-T,17,43104828,rs2154551285,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+40T>A,,c.301+40T>A,intron_variant,,,,1,1396226,7.162164291454249e-7,0,0,,,1.43,,0.00,-0.0400,-0.0590,,,0,32036,0,0,0,44612,0,0,0,25726,0,0,0,39318,0,0,0,53110,0,0,0,5628,0,0,1,1052646,0,0,,,,,0,84870,0,0,0,58280,0,0 +17-43104828-A-G,17,43104828,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+40T>C,,c.301+40T>C,intron_variant,,,,1,1396226,7.162164291454249e-7,0,0,,,2.07,,0.0300,-0.0300,-0.0590,,,0,32036,0,0,0,44612,0,0,0,25726,0,0,0,39318,0,0,0,53110,0,0,0,5628,0,0,1,1052646,0,0,,,,,0,84870,0,0,0,58280,0,0 +17-43104830-A-T,17,43104830,rs2154551290,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+38T>A,,c.301+38T>A,intron_variant,,,,1,1399934,7.143193893426404e-7,0,0,,,4.86,,0.0300,-0.0400,0.712,,,0,32118,0,0,0,44616,0,0,0,25758,0,0,0,39328,0,0,0,53142,0,0,1,5630,0,0,0,1055996,0,0,,,,,0,84966,0,0,0,58380,0,0 +17-43104831-G-A,17,43104831,rs768740518,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+37C>T,,c.301+37C>T,intron_variant,,,,14,1399646,0.000010002529210957629,0,0,sas,0.00009934999999999999,4.95,,0.00,0.0400,0.692,,,0,32142,0,0,0,44610,0,0,0,25740,0,0,0,39330,0,0,0,53108,0,0,0,5630,0,0,0,1055804,0,0,,,,,14,84952,0,0,0,58330,0,0 +17-43104831-G-C,17,43104831,rs768740518,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+37C>G,,c.301+37C>G,intron_variant,,,,2,1399646,0.0000014289327444225182,0,0,nfe,3.200000000000001e-7,4.88,,0.0200,-0.0100,0.692,,,0,32142,0,0,0,44610,0,0,0,25740,0,0,0,39330,0,0,0,53108,0,0,0,5630,0,0,2,1055804,0,0,,,,,0,84952,0,0,0,58330,0,0 +17-43104832-C-A,17,43104832,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+36G>T,,c.301+36G>T,intron_variant,,,,1,1404600,7.119464616260857e-7,0,0,,,3.95,,0.00,0.0400,0.139,,,0,32242,0,0,0,44616,0,0,0,25782,0,0,0,39366,0,0,0,53118,0,0,0,5648,0,0,0,1060256,0,0,,,,,1,85052,0,0,0,58520,0,0 +17-43104835-T-C,17,43104835,rs774467462,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+33A>G,,c.301+33A>G,intron_variant,,,,9,1423114,0.000006324159554329449,0,0,eas,0.00010081999999999996,5.88,,0.0400,-0.0600,0.330,,,0,32642,0,0,0,44656,0,0,1,25902,0,0,8,39452,0,0,0,53178,0,0,0,5690,0,0,0,1077024,0,0,,,,,0,85470,0,0,0,59100,0,0 +17-43104836-T-C,17,43104836,rs1567810963,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+32A>G,,c.301+32A>G,intron_variant,,,,11,1425748,0.000007715248416971303,0,0,nfe,0.00000547,8.07,,0.0400,-0.0200,-0.0180,,,0,32708,0,0,0,44662,0,0,0,25920,0,0,0,39462,0,0,0,53186,0,0,0,5700,0,0,11,1079404,0,0,,,,,0,85510,0,0,0,59196,0,0 +17-43104837-G-C,17,43104837,rs761913715,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+31C>G,,c.301+31C>G,intron_variant,,,,1,1425552,7.014826537369384e-7,0,0,,,7.11,,0.0500,-0.0500,1.72,,,0,32700,0,0,0,44660,0,0,0,25920,0,0,0,39466,0,0,1,53170,0,0,0,5698,0,0,0,1079230,0,0,,,,,0,85504,0,0,0,59204,0,0 +17-43104844-A-G,17,43104844,rs767849754,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+24T>C,,c.301+24T>C,intron_variant,,,,14,1596410,0.000008769676962685024,0,0,nfe,0.0000055,2.87,,0.0400,0.0200,3.84,,,0,74576,0,0,0,59974,0,0,0,29502,0,0,0,44758,0,0,0,63866,0,0,0,6046,0,0,12,1164166,0,0,0,912,0,0,1,90734,0,0,1,61876,0,0 +17-43104844-A-C,17,43104844,rs767849754,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+24T>G,,c.301+24T>G,intron_variant,,,,8,1596528,0.000005010873595702675,0,0,sas,0.00003599999999999999,4.05,,0.0900,-0.100,3.84,,,0,74698,0,0,0,59994,0,0,0,29502,0,0,0,44746,0,0,0,63866,0,0,1,6024,0,0,0,1164158,0,0,0,912,0,0,7,90730,0,0,0,61898,0,0 +17-43104847-C-CT,17,43104847,rs778150461,C,CT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+20dup,,c.301+20dup,intron_variant,Benign,1286192,,23,1598548,0.000014388057161874401,0,0,afr,0.00021057999999999998,0.603,,0.00,0.0300,1.49,,,23,74622,0,0,0,59966,0,0,0,29504,0,0,0,44756,0,0,0,63882,0,0,0,6050,0,0,0,1166124,0,0,0,912,0,0,0,90756,0,0,0,61976,0,0 +17-43104856-T-G,17,43104856,rs863224757,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+12A>C,,c.301+12A>C,intron_variant,Benign/Likely benign,216660,,6,1608442,0.000003730317910126694,0,0,amr,0.00000553,7.31,,0.0300,0.0200,-0.291,,,0,74810,0,0,2,59972,0,0,0,29570,0,0,0,44816,0,0,0,63916,0,0,0,6068,0,0,4,1175132,0,0,0,912,0,0,0,90960,0,0,0,62286,0,0 +17-43104857-T-G,17,43104857,rs1555596621,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+11A>C,,c.301+11A>C,intron_variant,Conflicting interpretations of pathogenicity,496361,,1,628476,0.0000015911506565087609,0,0,,,2.14,,0.00,0.0200,-0.0420,,,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36012,0,0,0,53016,0,0,0,4146,0,0,1,350030,0,0,,,,,0,69794,0,0,0,33080,0,0 +17-43104858-C-T,17,43104858,rs80358001,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+10G>A,,c.301+10G>A,intron_variant,Likely benign,125663,,5,981872,0.000005092313458373393,0,0,afr,0.00003384999999999999,0.693,,0.00,0.0700,-0.491,,,5,57172,0,0,0,16246,0,0,0,8604,0,0,0,8810,0,0,0,10888,0,0,0,1928,0,0,0,826818,0,0,0,912,0,0,0,21216,0,0,0,29278,0,0 +17-43104860-A-G,17,43104860,rs80358101,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+8T>C,,c.301+8T>C,splice_region_variant,Benign,125666,,146,1610996,0.00009062716480984435,0,0,afr,0.0013673599999999993,9.29,,0.0600,-0.140,0.375,,,120,74994,0,0,14,59996,0,0,0,29588,0,0,0,44820,0,0,0,63928,0,0,4,6052,0,0,1,1177302,0,0,0,912,0,0,1,91014,0,0,6,62390,0,0 +17-43104861-C-T,17,43104861,rs80358113,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+7G>A,,c.301+7G>A,splice_region_variant,Benign,37499,,87,1610834,0.000054009289597810824,0,0,nfe,0.00005311,1.46,,0.0200,0.0300,0.0920,,,0,74874,0,0,0,59992,0,0,4,29586,0,0,0,44830,0,0,3,63922,0,0,0,6070,0,0,77,1177260,0,0,0,912,0,0,0,91012,0,0,3,62376,0,0 +17-43104861-C-A,17,43104861,rs80358113,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+7G>T,,c.301+7G>T,splice_region_variant,not provided,865652,,1,1458618,6.85580460408414e-7,0,0,,,1.41,,0.0600,-0.0600,0.0920,,,0,33418,0,0,0,44716,0,0,0,26114,0,0,0,39628,0,0,0,53296,0,0,0,5754,0,0,0,1109226,0,0,,,,,1,86182,0,0,0,60284,0,0 +17-43104862-A-G,17,43104862,rs753859240,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+6T>C,,c.301+6T>C,intron_variant,Uncertain significance,224562,,10,1459442,0.000006851933821282381,0,0,nfe,0.00000456,22.6,,0.590,-0.450,4.54,,,0,33432,0,0,0,44716,0,0,0,26122,0,0,0,39636,0,0,0,53300,0,0,0,5762,0,0,10,1109958,0,0,,,,,0,86204,0,0,0,60312,0,0 +17-43104863-C-T,17,43104863,rs80358149,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+5G>A,,c.301+5G>A,intron_variant,Uncertain significance,125665,,1,831020,0.000001203340473153474,0,0,,,23.9,,0.670,-0.500,8.90,,,0,15738,0,0,0,984,0,0,0,5142,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,1,759990,0,0,,,,,0,16402,0,0,0,27244,0,0 +17-43104865-T-TA,17,43104865,rs273899694,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+2dup,,c.301+2dup,splice_region_variant,Uncertain significance,125664,,4,831492,0.000004810629567091445,0,0,afr,0.000051319999999999997,22.7,,0.670,-0.500,2.37,,,3,15752,0,0,0,984,0,0,0,5140,0,0,0,3628,0,0,0,276,0,0,0,1616,0,0,1,760432,0,0,,,,,0,16412,0,0,0,27252,0,0 +17-43104867-C-T,17,43104867,rs587782173,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+1G>A,,c.301+1G>A,splice_donor_variant,Conflicting interpretations of pathogenicity,142004,,7,1460460,0.000004793010421374088,0,0,nfe,0.0000026200000000000003,32.0,,0.670,-0.500,7.14,,,0,33442,0,0,0,44718,0,0,0,26124,0,0,0,39644,0,0,0,53316,0,0,0,5764,0,0,7,1110884,0,0,,,,,0,86218,0,0,0,60350,0,0 +17-43104867-C-G,17,43104867,rs587782173,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.301+1G>C,,c.301+1G>C,splice_donor_variant,Conflicting interpretations of pathogenicity,267517,,13,1460460,0.000008901305068266162,0,0,nfe,0.00000653,32.0,,0.670,-0.500,7.14,,,0,33442,0,0,0,44718,0,0,0,26124,0,0,0,39644,0,0,0,53316,0,0,0,5764,0,0,13,1110884,0,0,,,,,0,86218,0,0,0,60350,0,0 +17-43104867-C-A,17,43104867,rs587782173,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.301+1G>T,,c.301+1G>T,splice_donor_variant,Conflicting interpretations of pathogenicity,246510,,13,1612678,0.000008061125655586547,0,0,nfe,0.00000615,33.0,,0.670,-0.500,7.14,,,0,74896,0,0,0,59994,0,0,0,29596,0,0,0,44846,0,0,0,63942,0,0,0,6080,0,0,13,1178926,0,0,0,912,0,0,0,91048,0,0,0,62438,0,0 +17-43104868-A-C,17,43104868,rs1555596637,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr101Asp,p.Tyr101Asp,c.301T>G,missense_variant,not provided,868832,,1,628512,0.0000015910595183544625,0,0,,,19.7,0.560,0.0200,0.0300,1.15,0.00,0.0230,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36014,0,0,0,53030,0,0,0,4146,0,0,1,350048,0,0,,,,,0,69794,0,0,0,33082,0,0 +17-43104868-A-G,17,43104868,rs1555596637,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Tyr101His,p.Tyr101His,c.301T>C,missense_variant,Uncertain significance,489713,,1,628512,0.0000015910595183544625,0,0,,,20.1,0.545,0.0300,0.0900,1.15,0.00,0.0540,0,17686,0,0,0,43736,0,0,0,20976,0,0,0,36014,0,0,0,53030,0,0,0,4146,0,0,1,350048,0,0,,,,,0,69794,0,0,0,33082,0,0 +17-43104871-C-G,17,43104871,rs2054670804,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu100Gln,p.Glu100Gln,c.298G>C,missense_variant,,,,2,628504,0.000003182159540750735,0,0,sas,0.00000476,16.8,0.447,0.00,0.0700,4.95,1.00,0.00,0,17686,0,0,0,43738,0,0,0,20976,0,0,0,36016,0,0,0,53024,0,0,0,4146,0,0,0,350048,0,0,,,,,2,69786,0,0,0,33084,0,0 +17-43104879-G-C,17,43104879,rs431825393,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr97Arg,p.Thr97Arg,c.290C>G,missense_variant,Uncertain significance,96909,,8,984988,0.000008121926358493707,0,0,nfe,0.00000415,24.6,0.724,0.00,-0.0200,7.00,0.0400,0.737,0,57214,0,0,0,16250,0,0,0,8622,0,0,0,8832,0,0,0,10884,0,0,0,1936,0,0,8,829682,0,0,0,912,0,0,0,21276,0,0,0,29380,0,0 +17-43104880-T-A,17,43104880,rs1404795980,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr97Ser,p.Thr97Ser,c.289A>T,missense_variant,not provided,865373,,1,832916,0.0000012006012611115646,0,0,,,22.6,0.630,0.0600,-0.0800,2.31,0.150,0.549,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761720,0,0,,,,,0,16456,0,0,1,27294,0,0 +17-43104880-T-C,17,43104880,rs1404795980,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr97Ala,p.Thr97Ala,c.289A>G,missense_variant,Uncertain significance,441379,,1,152222,0.000006569352655989279,0,0,,,22.9,0.707,0.0100,0.0100,2.31,0.0800,0.444,0,41460,0,0,0,15272,0,0,0,3472,0,0,0,5206,0,0,0,10626,0,0,0,316,0,0,1,68038,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 +17-43104881-G-A,17,43104881,rs146085503,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp96Asp,p.Asp96Asp,c.288C>T,synonymous_variant,Likely benign,182084,,56,1613658,0.000034703760028457083,0,0,nfe,0.00003667,12.6,,0.100,-0.0700,2.92,,,1,74934,0,0,0,59984,0,0,0,29600,0,0,0,44834,0,0,0,63936,0,0,0,6082,0,0,55,1179820,0,0,0,912,0,0,0,91088,0,0,0,62468,0,0 +17-43104882-T-A,17,43104882,rs864622444,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp96Val,p.Asp96Val,c.287A>T,missense_variant,Pathogenic,868827,,1,832970,0.0000012005234282147015,0,0,,,28.8,0.848,0.00,-0.110,6.36,0.00,0.702,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761768,0,0,,,,,0,16460,0,0,0,27294,0,0 +17-43104884-A-G,17,43104884,rs2054674739,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu95Leu,p.Leu95Leu,c.285T>C,synonymous_variant,not provided,868353,,1,832984,0.0000012005032509628036,0,0,,,9.06,,0.0400,0.0200,0.215,,,0,15784,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761782,0,0,,,,,0,16460,0,0,0,27296,0,0 +17-43104887-C-A,17,43104887,rs1597898117,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln94His,p.Gln94His,c.282G>T,missense_variant,Likely benign,821868,,3,628542,0.000004772950733602527,0,0,eas,0.00002207,21.1,0.596,0.330,-0.130,0.578,0.00,0.00100,0,17686,0,0,0,43736,0,0,0,20976,0,0,3,36020,0,0,0,53042,0,0,0,4146,0,0,0,350058,0,0,,,,,0,69794,0,0,0,33084,0,0 +17-43104902-G-C,17,43104902,rs80356963,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile89Met,p.Ile89Met,c.267C>G,missense_variant,Likely benign,54642,,1,152196,0.0000065704749139267785,0,0,,,21.2,0.638,0.00,-0.0700,1.34,0.0500,0.0740,1,41456,0,0,0,15262,0,0,0,3472,0,0,0,5202,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4834,0,0,0,2094,0,0 +17-43104903-A-G,17,43104903,rs80357097,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile89Thr,p.Ile89Thr,c.266T>C,missense_variant,Likely benign,54635,,2,1461626,0.000001368339096321494,0,0,eas,0.00000836,18.9,0.613,0.120,0.0600,2.27,0.620,0.444,0,33474,0,0,0,44722,0,0,0,26128,0,0,2,39654,0,0,0,53318,0,0,0,5766,0,0,0,1111930,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43104908-C-T,17,43104908,rs757971617,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu87Leu,p.Leu87Leu,c.261G>A,synonymous_variant,Likely benign,427354,,2,628538,0.0000031819874056938485,0,0,nfe,9.5e-7,17.1,,0.320,-0.320,3.61,,,0,17690,0,0,0,43734,0,0,0,20976,0,0,0,36022,0,0,0,53036,0,0,0,4146,0,0,2,350056,0,0,,,,,0,69792,0,0,0,33086,0,0 +17-43104910-A-C,17,43104910,rs80357091,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu87Val,p.Leu87Val,c.259T>G,missense_variant,Conflicting interpretations of pathogenicity,54614,,3,628560,0.000004772814051164566,0,0,,,22.9,0.623,0.150,-0.140,0.324,0.0100,0.0910,0,17690,0,0,0,43738,0,0,2,20978,0,0,0,36022,0,0,0,53048,0,0,0,4146,0,0,0,350058,0,0,,,,,0,69794,0,0,1,33086,0,0 +17-43104911-T-C,17,43104911,rs777491912,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu86Leu,p.Leu86Leu,c.258A>G,synonymous_variant,Likely benign,187586,,4,1461650,0.0000027366332569356547,0,0,nfe,7.200000000000001e-7,5.42,,0.110,0.100,-2.18,,,0,33476,0,0,1,44722,0,0,0,26130,0,0,0,39650,0,0,0,53320,0,0,0,5766,0,0,3,1111948,0,0,,,,,0,86254,0,0,0,60384,0,0 +17-43104911-T-A,17,43104911,rs777491912,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu86Leu,p.Leu86Leu,c.258A>T,synonymous_variant,Likely benign,427292,,10,1461650,0.0000068415831423391375,0,0,nfe,0.0000031,4.62,,0.00,-0.0600,-2.18,,,0,33476,0,0,0,44722,0,0,0,26130,0,0,0,39650,0,0,0,53320,0,0,0,5766,0,0,8,1111948,0,0,,,,,0,86254,0,0,2,60384,0,0 +17-43104914-C-T,17,43104914,rs756499058,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu85Glu,p.Glu85Glu,c.255G>A,synonymous_variant,Likely benign,186047,,1,833102,0.0000012003332124997898,0,0,,,10.9,,0.0300,0.0500,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43104914-CTCT-C,17,43104914,rs1064797221,CTCT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu85del,p.Glu85del,c.252_254del,inframe_deletion,Uncertain significance,425132,,1,833102,0.0000012003332124997898,0,0,,,22.7,,0.530,-0.400,1.61,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761896,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43104914-C-A,17,43104914,rs756499058,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Glu85Asp,p.Glu85Asp,c.255G>T,missense_variant,Conflicting interpretations of pathogenicity,230500,,1,152214,0.0000065696979252893955,0,0,,,23.2,0.552,0.0300,0.0600,1.61,,,0,41456,0,0,0,15266,0,0,0,3470,0,0,0,5204,0,0,0,10622,0,0,0,316,0,0,1,68042,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43104918-T-C,17,43104918,rs2054685676,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu84Gly,p.Glu84Gly,c.251A>G,missense_variant,not provided,868310,,1,628532,0.0000015910088905576805,0,0,,,29.2,0.743,0.110,-0.100,6.36,0.00,0.628,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36020,0,0,0,53024,0,0,0,4146,0,0,0,350060,0,0,,,,,0,69794,0,0,1,33084,0,0 +17-43104920-A-C,17,43104920,rs780485347,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Val,p.Val83Val,c.249T>G,synonymous_variant,Likely benign,865326,,2,1461616,0.0000013683484581449573,0,0,nfe,2.999999999999999e-7,12.5,,0.0900,0.0800,0.723,,,0,33476,0,0,0,44720,0,0,0,26130,0,0,0,39650,0,0,0,53294,0,0,0,5766,0,0,2,1111948,0,0,,,,,0,86254,0,0,0,60378,0,0 +17-43104920-A-G,17,43104920,rs780485347,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Val,p.Val83Val,c.249T>C,synonymous_variant,Likely benign,427335,,1,1461616,6.841742290724787e-7,0,0,,,12.8,,0.0900,0.0900,0.723,,,0,33476,0,0,0,44720,0,0,0,26130,0,0,1,39650,0,0,0,53294,0,0,0,5766,0,0,0,1111948,0,0,,,,,0,86254,0,0,0,60378,0,0 +17-43104922-CA-C,17,43104922,rs886040039,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83LeufsTer5,p.Val83LeufsTer5,c.246del,frameshift_variant,Pathogenic,266264,,2,1461600,0.0000013683634373289545,0,0,nfe,2.999999999999999e-7,23.5,,0.0500,-0.150,5.96,,,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39650,0,0,0,53284,0,0,0,5766,0,0,2,1111944,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43104922-C-T,17,43104922,rs1060502343,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val83Ile,p.Val83Ile,c.247G>A,missense_variant,Uncertain significance,629283,,6,1461600,0.000004105090311986864,0,0,nfe,0.00000194,21.5,0.575,0.0700,-0.0600,5.96,0.230,0.444,0,33474,0,0,0,44718,0,0,0,26130,0,0,0,39650,0,0,0,53284,0,0,0,5766,0,0,6,1111944,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43104925-G-A,17,43104925,rs2054688287,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu82Phe,p.Leu82Phe,c.244C>T,missense_variant,not provided,868803,,1,628490,0.0000015911152126525483,0,0,,,31.0,0.693,0.300,-0.300,7.00,0.00,0.0750,0,17690,0,0,0,43736,0,0,0,20978,0,0,0,36020,0,0,0,52994,0,0,0,4146,0,0,1,350050,0,0,,,,,0,69794,0,0,0,33082,0,0 +17-43104926-T-C,17,43104926,rs863224418,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln81Gln,p.Gln81Gln,c.243A>G,synonymous_variant,Likely benign,215871,,7,1461600,0.000004789272030651341,0,0,nfe,0.00000194,10.9,,0.170,-0.160,-1.02,,,0,33476,0,0,0,44720,0,0,0,26128,0,0,1,39648,0,0,0,53294,0,0,0,5766,0,0,6,1111934,0,0,,,,,0,86254,0,0,0,60380,0,0 +17-43104928-G-A,17,43104928,rs80357350,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln81Ter,p.Gln81Ter,c.241C>T,stop_gained,Pathogenic,54565,,1,628474,0.000001591155720045698,0,0,,,37.0,,0.510,-0.410,7.00,,,0,17690,0,0,0,43736,0,0,0,20976,0,0,0,36018,0,0,0,52988,0,0,0,4146,0,0,0,350046,0,0,,,,,1,69790,0,0,0,33084,0,0 +17-43104930-C-T,17,43104930,rs2054690270,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser80Asn,p.Ser80Asn,c.239G>A,missense_variant,Likely benign,865315,,1,628460,0.000001591191165706648,0,0,,,23.3,0.500,0.0100,0.110,3.61,0.120,0.922,0,17688,0,0,0,43736,0,0,0,20976,0,0,0,36016,0,0,0,52978,0,0,0,4146,0,0,0,350042,0,0,,,,,1,69794,0,0,0,33084,0,0 +17-43104938-C-T,17,43104938,rs80356847,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr77Thr,p.Thr77Thr,c.231G>A,synonymous_variant,Likely benign,142611,,6,1461444,0.000004105528504684408,0,0,nfe,0.0000013199999999999999,10.4,,0.0100,-0.0300,1.00,,,0,33472,0,0,1,44720,0,0,0,26128,0,0,0,39642,0,0,0,53220,0,0,0,5766,0,0,5,1111872,0,0,,,,,0,86244,0,0,0,60380,0,0 +17-43104939-G-C,17,43104939,rs80357209,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr77Arg,p.Thr77Arg,c.230C>G,missense_variant,Conflicting interpretations of pathogenicity,54528,,1,1461308,6.843184325275712e-7,0,0,,,29.8,0.597,0.200,-0.210,8.80,0.00,0.790,0,33470,0,0,0,44720,0,0,0,26126,0,0,0,39644,0,0,0,53180,0,0,0,5766,0,0,0,1111782,0,0,,,,,1,86250,0,0,0,60370,0,0 +17-43104939-G-A,17,43104939,rs80357209,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr77Met,p.Thr77Met,c.230C>T,missense_variant,Conflicting interpretations of pathogenicity,54529,,11,1613388,0.000006817950796708541,0,0,afr,0.00001064,32.0,0.625,0.310,-0.280,8.80,0.00,0.818,3,74876,0,0,0,59974,0,0,0,29598,0,0,0,44838,0,0,0,63758,0,0,0,6082,0,0,4,1179808,0,0,0,910,0,0,3,91082,0,0,1,62462,0,0 +17-43104947-T-G,17,43104947,rs730881465,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln74His,p.Gln74His,c.222A>C,missense_variant,Conflicting interpretations of pathogenicity,182124,,1,152208,0.000006569956901082729,0,0,,,23.0,0.559,0.0200,-0.0600,0.433,,,1,41450,0,0,0,15266,0,0,0,3472,0,0,0,5200,0,0,0,10626,0,0,0,316,0,0,0,68046,0,0,0,912,0,0,0,4826,0,0,0,2094,0,0 +17-43104947-T-C,17,43104947,rs730881465,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln74Gln,p.Gln74Gln,c.222A>G,synonymous_variant,Likely benign,231529,,1,628390,0.0000015913684177023822,0,0,,,10.1,,0.100,-0.150,0.433,,,0,17688,0,0,0,43736,0,0,0,20974,0,0,0,36012,0,0,0,52924,0,0,0,4146,0,0,1,350032,0,0,,,,,0,69794,0,0,0,33084,0,0 +17-43104949-G-T,17,43104949,rs80357234,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln74Lys,p.Gln74Lys,c.220C>A,missense_variant,Uncertain significance,629710,,1,1460930,6.844954925971812e-7,0,0,,,28.2,0.557,0.200,-0.290,8.80,0.0100,0.0460,0,33468,0,0,0,44720,0,0,0,26122,0,0,0,39640,0,0,0,53140,0,0,0,5764,0,0,1,1111466,0,0,,,,,0,86244,0,0,0,60366,0,0 +17-43104950-T-C,17,43104950,rs876659123,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu73Leu,p.Leu73Leu,c.219A>G,synonymous_variant,Likely benign,231377,,2,628340,0.000003182990100900786,0,0,amr,0.000007580000000000001,8.64,,0.00,0.0400,-1.28,,,0,17686,0,0,2,43736,0,0,0,20972,0,0,0,36012,0,0,0,52888,0,0,0,4146,0,0,0,350022,0,0,,,,,0,69794,0,0,0,33084,0,0 +17-43104952-G-A,17,43104952,rs786201203,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu73Leu,p.Leu73Leu,c.217C>T,synonymous_variant,Likely benign,183982,,1,1460822,6.845460980187867e-7,0,0,,,13.6,,0.150,-0.240,4.19,,,0,33468,0,0,0,44718,0,0,0,26122,0,0,0,39640,0,0,0,53116,0,0,0,5764,0,0,1,1111398,0,0,,,,,0,86238,0,0,0,60358,0,0 +17-43104953-G-C,17,43104953,rs80356967,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser72Arg,p.Ser72Arg,c.216C>G,missense_variant,Conflicting interpretations of pathogenicity,182123,,5,1460606,0.0000034232366565658363,0,0,amr,0.00004357999999999998,24.3,0.570,0.0900,-0.140,1.00,0.00,0.511,0,33468,0,0,5,44720,0,0,0,26122,0,0,0,39638,0,0,0,53122,0,0,0,5764,0,0,0,1111186,0,0,,,,,0,86234,0,0,0,60352,0,0 +17-43104956-C-A,17,43104956,rs1441240938,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg71Ser,p.Arg71Ser,c.213G>T,missense_variant,Uncertain significance,867971,,1,832054,0.0000012018450725553871,0,0,,,33.0,0.718,0.740,-0.470,0.584,0.00,0.230,0,15768,0,0,0,984,0,0,0,5148,0,0,0,3618,0,0,0,274,0,0,0,1618,0,0,1,760956,0,0,,,,,0,16438,0,0,0,27250,0,0 +17-43104959-G-T,17,43104959,rs80358119,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-3C>A,,c.213-3C>A,splice_region_variant,not provided,865564,,1,1459530,6.851520695018259e-7,0,0,,,23.5,,0.740,-0.470,5.78,,,0,33442,0,0,0,44718,0,0,0,26120,0,0,0,39626,0,0,0,53056,0,0,0,5764,0,0,1,1110280,0,0,,,,,0,86212,0,0,0,60312,0,0 +17-43104965-A-C,17,43104965,rs2054700511,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-9T>G,,c.213-9T>G,intron_variant,Likely benign,867963,,1,628110,0.0000015920778207638789,0,0,,,23.1,,0.170,-0.270,0.805,,,1,17684,0,0,0,43734,0,0,0,20974,0,0,0,36002,0,0,0,52690,0,0,0,4144,0,0,0,350010,0,0,,,,,0,69792,0,0,0,33080,0,0 +17-43104967-A-C,17,43104967,rs80358061,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-11T>G,,c.213-11T>G,intron_variant,Pathogenic,37449,,9,1606904,0.000005600832408158795,0,0,nfe,0.00000293,28.9,,0.710,-0.480,3.38,,,1,74806,0,0,0,59980,0,0,0,29544,0,0,0,44802,0,0,0,63554,0,0,0,6076,0,0,8,1174044,0,0,0,912,0,0,0,90922,0,0,0,62264,0,0 +17-43104970-G-C,17,43104970,rs1060502337,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-14C>G,,c.213-14C>G,intron_variant,Uncertain significance,409321,,1,823028,0.000001215025491234806,0,0,,,22.2,,0.690,-0.460,2.11,,,0,15572,0,0,0,968,0,0,0,5082,0,0,0,3588,0,0,0,274,0,0,0,1606,0,0,1,752756,0,0,,,,,0,16214,0,0,0,26968,0,0 +17-43104973-T-C,17,43104973,rs2154552811,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-17A>G,,c.213-17A>G,intron_variant,,,,1,813586,0.000001229126361564727,0,0,,,13.8,,0.0900,-0.0900,1.23,,,0,15384,0,0,0,950,0,0,0,5024,0,0,0,3560,0,0,0,274,0,0,0,1592,0,0,1,744152,0,0,,,,,0,16028,0,0,0,26622,0,0 +17-43104979-A-T,17,43104979,rs2154552831,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-23T>A,,c.213-23T>A,intron_variant,,,,1,1426210,7.011590158532053e-7,0,0,,,10.3,,0.0700,-0.0600,0.628,,,0,32736,0,0,0,44668,0,0,0,25902,0,0,1,39472,0,0,0,52676,0,0,0,5708,0,0,0,1080372,0,0,,,,,0,85464,0,0,0,59212,0,0 +17-43104982-C-T,17,43104982,rs748319423,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-26G>A,,c.213-26G>A,intron_variant,,,,4,1572672,0.0000025434419891751108,0,0,nfe,8.2e-7,0.190,,0.0500,-0.0700,-1.43,,,0,74064,0,0,0,59924,0,0,0,29328,0,0,0,44634,0,0,0,63150,0,0,0,6014,0,0,4,1143362,0,0,0,910,0,0,0,90186,0,0,0,61100,0,0 +17-43104983-A-C,17,43104983,rs772130013,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-27T>G,,c.213-27T>G,intron_variant,,,,4,1410412,0.0000028360507426198867,0,0,nfe,8.8e-7,10.6,,0.240,-0.250,1.22,,,0,32414,0,0,0,44652,0,0,0,25798,0,0,0,39392,0,0,0,52532,0,0,0,5672,0,0,4,1066092,0,0,,,,,0,85154,0,0,0,58706,0,0 +17-43104986-C-G,17,43104986,rs2054701789,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-30G>C,,c.213-30G>C,intron_variant,,,,1,1405428,7.115270223732557e-7,0,0,,,9.10,,0.0300,-0.120,0.0980,,,1,32334,0,0,0,44638,0,0,0,25772,0,0,0,39362,0,0,0,52370,0,0,0,5662,0,0,0,1061686,0,0,,,,,0,85042,0,0,0,58562,0,0 +17-43104987-A-G,17,43104987,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-31T>C,,c.213-31T>C,intron_variant,,,,3,1397778,0.00000214626356975142,0,0,sas,0.00000391,22.6,,0.330,-0.370,1.84,,,0,32188,0,0,0,44626,0,0,0,25726,0,0,0,39344,0,0,0,52380,0,0,0,5658,0,0,1,1054708,0,0,,,,,2,84868,0,0,0,58280,0,0 +17-43104988-G-A,17,43104988,rs2154552856,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-32C>T,,c.213-32C>T,intron_variant,,,,1,1394852,7.169219386716297e-7,0,0,,,18.1,,0.0800,-0.170,1.78,,,0,32178,0,0,0,44622,0,0,0,25712,0,0,0,39300,0,0,0,52240,0,0,0,5650,0,0,0,1052130,0,0,,,,,0,84820,0,0,1,58200,0,0 +17-43104992-G-A,17,43104992,rs2054701925,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-36C>T,,c.213-36C>T,intron_variant,,,,2,1531510,0.0000013059007123688387,0,0,,,7.84,,0.00,0.0100,0.0580,,,0,73226,0,0,0,59850,0,0,0,29118,0,0,0,44440,0,0,0,62732,0,0,0,5944,0,0,2,1106214,0,0,0,912,0,0,0,89292,0,0,0,59782,0,0 +17-43104994-G-T,17,43104994,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-38C>A,,c.213-38C>A,intron_variant,,,,2,1362922,0.0000014674354071619653,0,0,,,14.0,,0.00,-0.0100,0.259,,,0,31416,0,0,0,44572,0,0,0,25510,0,0,0,39156,0,0,0,52002,0,0,0,5590,0,0,1,1023434,0,0,,,,,1,84088,0,0,0,57154,0,0 +17-43104996-T-G,17,43104996,rs1386263550,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-40A>C,,c.213-40A>C,intron_variant,,,,1,1350478,7.404785564814828e-7,0,0,,,14.5,,0.0100,-0.0500,1.14,,,0,31184,0,0,0,44552,0,0,0,25452,0,0,0,39108,0,0,0,51884,0,0,0,5558,0,0,1,1012042,0,0,,,,,0,83884,0,0,0,56814,0,0 +17-43104999-T-A,17,43104999,rs2154552892,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-43A>T,,c.213-43A>T,intron_variant,,,,8,1353432,0.000005910899106863145,0,0,nfe,0.0000033900000000000006,9.27,,0.00,0.0100,-0.244,,,0,31260,0,0,0,44554,0,0,0,25464,0,0,0,39108,0,0,0,51776,0,0,0,5558,0,0,8,1014840,0,0,,,,,0,83924,0,0,0,56948,0,0 +17-43105000-C-T,17,43105000,rs374257806,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-44G>A,,c.213-44G>A,intron_variant,Likely benign,1325677,,17,1347842,0.00001261275431393294,0,0,eas,0.00002035,10.8,,0.0200,0.0200,0.384,,,0,31130,0,0,0,44550,0,0,0,25434,0,0,3,39074,0,0,0,51634,0,0,0,5546,0,0,0,1009978,0,0,,,,,1,83760,0,0,13,56736,0,0 +17-43105003-C-T,17,43105003,rs770872146,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-47G>A,,c.213-47G>A,intron_variant,,,,6,1453428,0.000004128171467730084,0,0,amr,0.00000556,8.83,,0.00,0.0400,0.895,,,0,71610,0,0,2,59678,0,0,0,28634,0,0,0,44062,0,0,0,62000,0,0,0,5768,0,0,4,1035834,0,0,0,912,0,0,0,87686,0,0,0,57244,0,0 +17-43105004-C-G,17,43105004,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-48G>C,,c.213-48G>C,intron_variant,,,,1,1273672,7.851314938225854e-7,0,0,,,6.21,,0.00,0.0500,1.63,,,0,29638,0,0,0,44248,0,0,0,24980,0,0,0,38750,0,0,0,51266,0,0,0,5402,0,0,1,942958,0,0,,,,,0,82138,0,0,0,54292,0,0 +17-43105004-C-T,17,43105004,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-48G>A,,c.213-48G>A,intron_variant,,,,1,1273672,7.851314938225854e-7,0,0,,,6.90,,0.00,0.0500,1.63,,,0,29638,0,0,0,44248,0,0,0,24980,0,0,0,38750,0,0,0,51266,0,0,0,5402,0,0,1,942958,0,0,,,,,0,82138,0,0,0,54292,0,0 +17-43105005-T-C,17,43105005,rs2154552905,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-49A>G,,c.213-49A>G,intron_variant,,,,1,625154,0.0000015996058571168063,0,0,,,16.1,,0.00,-0.0500,2.82,,,0,17594,0,0,0,43514,0,0,0,20938,0,0,0,35960,0,0,0,51004,0,0,0,4128,0,0,0,349516,0,0,,,,,1,69504,0,0,0,32996,0,0 +17-43105008-T-C,17,43105008,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-52A>G,,c.213-52A>G,intron_variant,,,,2,1252636,0.0000015966330202868191,0,0,,,14.7,,0.0300,-0.0200,0.00800,,,0,29172,0,0,0,44172,0,0,0,24862,0,0,0,38646,0,0,1,50800,0,0,0,5370,0,0,1,924346,0,0,,,,,0,81650,0,0,0,53618,0,0 +17-43105011-G-T,17,43105011,rs1185759297,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.213-55C>A,,c.213-55C>A,intron_variant,,,,1,152048,0.000006576870461959381,0,0,,,5.49,,0.00,0.0300,1.24,,,1,41414,0,0,0,15250,0,0,0,3464,0,0,0,5188,0,0,0,10586,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 +17-43105012-G-A,17,43105012,rs2054702939,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-56C>T,,c.213-56C>T,intron_variant,,,,1,1240414,8.061824519878041e-7,0,0,,,5.08,,0.00,0.0300,0.221,,,0,28988,0,0,0,44124,0,0,0,24788,0,0,0,38568,0,0,0,50436,0,0,0,5326,0,0,1,913764,0,0,,,,,0,81260,0,0,0,53160,0,0 +17-43105014-C-G,17,43105014,rs2154552926,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-58G>C,,c.213-58G>C,intron_variant,,,,7,1226714,0.000005706301550320613,0,0,nfe,0.0000032300000000000004,4.23,,0.00,-0.0300,0.0300,,,0,28684,0,0,0,43884,0,0,0,24646,0,0,0,38494,0,0,0,50196,0,0,0,5316,0,0,7,901916,0,0,,,,,0,80866,0,0,0,52712,0,0 +17-43105016-C-A,17,43105016,rs2154552931,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-60G>T,,c.213-60G>T,intron_variant,,,,12,1208314,0.00000993119338185273,1,0,sas,0.00007615999999999999,5.25,,0.0800,0.0400,-0.209,,,0,28284,0,0,0,43812,0,0,0,24566,0,0,0,38402,0,0,0,49932,0,0,0,5262,0,0,1,885444,0,0,,,,,11,80444,1,0,0,52168,0,0 +17-43105017-T-A,17,43105017,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-61A>T,,c.213-61A>T,intron_variant,,,,1,1200038,8.333069452800662e-7,0,0,,,12.4,,0.150,0.0500,0.186,,,0,28118,0,0,0,43780,0,0,0,24508,0,0,0,38398,0,0,0,49864,0,0,0,5234,0,0,1,877986,0,0,,,,,0,80266,0,0,0,51884,0,0 +17-43105017-T-C,17,43105017,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-61A>G,,c.213-61A>G,intron_variant,,,,1,1200040,8.333055564814506e-7,0,0,,,12.0,,0.0300,-0.0300,0.186,,,1,28118,0,0,0,43780,0,0,0,24508,0,0,0,38398,0,0,0,49864,0,0,0,5234,0,0,0,877988,0,0,,,,,0,80266,0,0,0,51884,0,0 +17-43105024-A-C,17,43105024,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-68T>G,,c.213-68T>G,intron_variant,,,,2,1116920,0.0000017906385417039716,0,0,,,13.0,,0.00,0.0100,0.452,,,0,26534,0,0,0,43364,0,0,0,23944,0,0,0,38034,0,0,0,48794,0,0,0,5056,0,0,0,803782,0,0,,,,,1,78338,0,0,1,49074,0,0 +17-43105025-G-A,17,43105025,rs2154552947,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-69C>T,,c.213-69C>T,intron_variant,,,,3,1093228,0.0000027441668160713043,0,0,,,3.85,,0.0100,0.0100,0.175,,,0,26040,0,0,0,43146,0,0,0,23732,0,0,0,37856,0,0,0,48208,0,0,1,4980,0,0,1,783364,0,0,,,,,1,77706,0,0,0,48196,0,0 +17-43105025-GA-G,17,43105025,rs2054703180,GA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-70del,,c.213-70del,intron_variant,,,,4,1245322,0.000003212020666140966,0,0,nfe,0.0000011000000000000003,7.10,,0.00,-0.0100,0.175,,,0,67462,0,0,0,58414,0,0,0,27200,0,0,0,43056,0,0,0,58808,0,0,0,5296,0,0,4,851366,0,0,0,910,0,0,0,82526,0,0,0,50284,0,0 +17-43105027-A-C,17,43105027,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-71T>G,,c.213-71T>G,intron_variant,,,,2,614744,0.0000032533867756334346,0,0,sas,0.00000485,15.7,,0.00,0.0100,1.18,,,0,17218,0,0,0,42372,0,0,0,20702,0,0,0,35812,0,0,0,47222,0,0,0,3954,0,0,0,346382,0,0,,,,,2,68450,0,0,0,32632,0,0 +17-43105029-A-G,17,43105029,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-73T>C,,c.213-73T>C,intron_variant,,,,1,614734,0.0000016267198495609483,0,0,,,16.2,,0.00,-0.0400,2.78,,,0,17220,0,0,1,42394,0,0,0,20694,0,0,0,35806,0,0,0,47190,0,0,0,3954,0,0,0,346380,0,0,,,,,0,68450,0,0,0,32646,0,0 +17-43105030-G-C,17,43105030,rs1472115280,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.213-74C>G,,c.213-74C>G,intron_variant,,,,4,1221308,0.000003275177105201964,0,0,nfe,4e-7,9.57,,0.00,0.0200,0.755,,,1,66960,0,0,0,58118,0,0,0,26984,0,0,0,42882,0,0,0,57874,0,0,0,5190,0,0,2,831010,0,0,0,912,0,0,0,81916,0,0,1,49462,0,0 +17-43105030-G-T,17,43105030,rs1472115280,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-74C>A,,c.213-74C>A,intron_variant,,,,1,1069200,9.352787130564908e-7,0,0,,,9.60,,0.00,0.0100,0.755,,,0,25516,0,0,0,42872,0,0,0,23516,0,0,0,37690,0,0,0,47268,0,0,0,4874,0,0,1,763000,0,0,,,,,0,77092,0,0,0,47372,0,0 +17-43105030-G-A,17,43105030,rs1472115280,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.213-74C>T,,c.213-74C>T,intron_variant,,,,2,1069202,0.0000018705539271344423,0,0,afr,0.00001297,9.81,,0.00,0.0100,0.755,,,2,25516,0,0,0,42872,0,0,0,23516,0,0,0,37690,0,0,0,47268,0,0,0,4874,0,0,0,763002,0,0,,,,,0,77092,0,0,0,47372,0,0 +17-43106381-G-A,17,43106381,rs1215368754,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+75C>T,,c.212+75C>T,intron_variant,,,,11,937884,0.000011728529327720699,0,0,nfe,0.000007060000000000001,3.87,,0.00,0.00,0.197,,,0,60028,0,0,1,45224,0,0,0,23320,0,0,1,39740,0,0,0,59750,0,0,0,3128,0,0,9,599590,0,0,0,910,0,0,0,66884,0,0,0,39310,0,0 +17-43106381-G-T,17,43106381,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+75C>A,,c.212+75C>A,intron_variant,,,,2,785766,0.00000254528701929073,0,0,nfe,6.300000000000001e-7,3.36,,0.00,-0.0100,0.197,,,0,18618,0,0,0,29962,0,0,0,19848,0,0,0,34532,0,0,0,49152,0,0,0,2812,0,0,2,531568,0,0,,,,,0,62056,0,0,0,37218,0,0 +17-43106382-CTA-C,17,43106382,rs1312796367,CTA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+72_212+73del,,c.212+72_212+73del,intron_variant,,,,6,957202,0.000006268269393503148,0,0,afr,0.000022430000000000004,6.66,,0.00,0.0100,0.936,,,4,60458,0,0,0,46556,0,0,0,23652,0,0,0,40098,0,0,0,60236,0,0,0,3184,0,0,2,614026,0,0,0,908,0,0,0,68012,0,0,0,40072,0,0 +17-43106382-C-T,17,43106382,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+74G>A,,c.212+74G>A,intron_variant,,,,1,805100,0.0000012420817289777667,0,0,,,6.89,,0.00,-0.0100,0.936,,,0,19046,0,0,0,31296,0,0,0,20180,0,0,0,34896,0,0,0,49644,0,0,0,2870,0,0,0,546004,0,0,,,,,1,63182,0,0,0,37982,0,0 +17-43106382-CTATGT-C,17,43106382,,CTATGT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+69_212+73del,,c.212+69_212+73del,intron_variant,,,,4,805100,0.000004968326915911067,0,0,sas,0.000020770000000000003,7.51,,0.00,0.0100,0.936,,,0,19046,0,0,0,31296,0,0,0,20180,0,0,0,34896,0,0,0,49644,0,0,0,2870,0,0,0,546004,0,0,,,,,4,63182,0,0,0,37982,0,0 +17-43106390-T-C,17,43106390,rs376994550,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+66A>G,,c.212+66A>G,intron_variant,,,,13,1056018,0.000012310396224306783,0,0,afr,0.00004131999999999998,10.1,,0.00,0.0100,-0.230,,,6,62666,0,0,1,49056,0,0,0,24554,0,0,0,41266,0,0,0,61324,0,0,0,3500,0,0,0,698108,0,0,0,910,0,0,1,71248,0,0,5,43386,0,0 +17-43106390-T-G,17,43106390,rs376994550,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+66A>C,,c.212+66A>C,intron_variant,,,,2,1055900,0.00000189411876124633,0,0,,,9.81,,0.00,0.00,-0.230,,,2,62544,0,0,0,49036,0,0,0,24554,0,0,0,41278,0,0,0,61324,0,0,0,3522,0,0,0,698116,0,0,0,910,0,0,0,71252,0,0,0,43364,0,0 +17-43106393-A-T,17,43106393,rs2054762963,A,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.212+63T>A,,c.212+63T>A,intron_variant,,,,1,152208,0.000006569956901082729,0,0,,,15.7,,0.00,-0.0100,-0.262,,,1,41456,0,0,0,15258,0,0,0,3472,0,0,0,5208,0,0,0,10620,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43106397-A-T,17,43106397,rs547482120,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+59T>A,,c.212+59T>A,intron_variant,,,,22,1147500,0.00001917211328976035,0,0,sas,0.00020098999999999998,14.0,,0.00,-0.0100,1.75,,,0,64504,0,0,0,50570,0,0,0,25226,0,0,0,42050,0,0,0,62038,0,0,0,3788,0,0,0,777926,0,0,0,912,0,0,22,74000,0,0,0,46486,0,0 +17-43106400-T-A,17,43106400,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+56A>T,,c.212+56A>T,intron_variant,,,,2,583518,0.0000034274863843103384,0,0,nfe,0.000001,15.8,,0.00,0.0100,0.992,,,0,15606,0,0,0,35062,0,0,0,19186,0,0,0,35260,0,0,0,51468,0,0,0,2714,0,0,2,331774,0,0,,,,,0,61538,0,0,0,30910,0,0 +17-43106404-C-T,17,43106404,rs2154554469,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+52G>A,,c.212+52G>A,intron_variant,,,,1,1073492,9.315393128220798e-7,0,0,,,13.0,,0.00,0.00,0.445,,,0,24622,0,0,0,36312,0,0,0,22304,0,0,0,37418,0,0,0,51816,0,0,0,3744,0,0,1,779232,0,0,,,,,0,71058,0,0,0,46986,0,0 +17-43106410-C-A,17,43106410,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+46G>T,,c.212+46G>T,intron_variant,,,,1,1099822,9.092380403374364e-7,0,0,,,8.53,,0.00,0.00,0.534,,,0,25244,0,0,0,37758,0,0,0,22696,0,0,0,37708,0,0,0,52210,0,0,0,3954,0,0,0,799820,0,0,,,,,1,72440,0,0,0,47992,0,0 +17-43106410-C-T,17,43106410,rs2154554478,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+46G>A,,c.212+46G>A,intron_variant,,,,1,1099820,9.092396937680712e-7,0,0,,,9.08,,0.00,0.0100,0.534,,,0,25244,0,0,0,37758,0,0,0,22696,0,0,0,37708,0,0,0,52210,0,0,0,3954,0,0,1,799820,0,0,,,,,0,72440,0,0,0,47990,0,0 +17-43106412-T-G,17,43106412,rs1400943682,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+44A>C,,c.212+44A>C,intron_variant,,,,3,754676,0.000003975215854220884,0,0,amr,0.00000614,13.7,,0.00,0.0100,1.28,,,0,58018,0,0,2,53992,0,0,0,23326,0,0,0,40884,0,0,0,62912,0,0,0,3364,0,0,0,408746,0,0,0,912,0,0,1,68594,0,0,0,33928,0,0 +17-43106414-C-T,17,43106414,rs2154554491,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+42G>A,,c.212+42G>A,intron_variant,,,,1,1133858,8.819446526813763e-7,0,0,,,5.05,,0.00,-0.0100,0.770,,,0,26392,0,0,0,40526,0,0,0,23388,0,0,0,37904,0,0,0,52554,0,0,0,4158,0,0,1,825138,0,0,,,,,0,74496,0,0,0,49302,0,0 +17-43106415-T-A,17,43106415,rs1285470228,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+41A>T,,c.212+41A>T,intron_variant,,,,3,1294158,0.0000023181095353117626,0,0,nfe,8.9e-7,8.22,,0.00,0.00,0.715,,,0,68066,0,0,0,56134,0,0,0,26960,0,0,0,43210,0,0,0,63248,0,0,0,4522,0,0,3,899688,0,0,0,912,0,0,0,79722,0,0,0,51696,0,0 +17-43106418-G-T,17,43106418,rs776607293,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+38C>A,,c.212+38C>A,intron_variant,,,,1,1158832,8.629378546674583e-7,0,0,,,3.86,,0.00,0.00,1.10,,,0,26980,0,0,0,41280,0,0,0,23638,0,0,0,38014,0,0,0,52660,0,0,0,4308,0,0,0,846528,0,0,,,,,1,75276,0,0,0,50148,0,0 +17-43106419-G-A,17,43106419,rs777885366,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+37C>T,,c.212+37C>T,intron_variant,,,,21,1197490,0.00001753668089086339,0,0,nfe,0.00001275,6.02,,0.00,0.00,0.770,,,0,27658,0,0,0,41388,0,0,0,23858,0,0,0,38170,0,0,0,52694,0,0,0,4430,0,0,18,881864,0,0,,,,,0,76084,0,0,3,51344,0,0 +17-43106420-T-C,17,43106420,rs368950467,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.212+36A>G,,c.212+36A>G,intron_variant,,,,1,152248,0.000006568230781356734,0,0,,,6.14,,0.0200,0.0100,0.555,,,0,41470,0,0,0,15274,0,0,0,3472,0,0,0,5206,0,0,0,10622,0,0,0,314,0,0,1,68048,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43106422-G-T,17,43106422,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+34C>A,,c.212+34C>A,intron_variant,,,,2,1212710,0.0000016491989016335315,0,0,nfe,3.7000000000000006e-7,4.43,,0.00,0.00,1.26,,,0,28076,0,0,0,41916,0,0,0,24058,0,0,0,38260,0,0,0,52748,0,0,0,4472,0,0,2,894482,0,0,,,,,0,76842,0,0,0,51856,0,0 +17-43106427-C-T,17,43106427,rs2154554514,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+29G>A,,c.212+29G>A,intron_variant,,,,1,678908,0.0000014729536255280538,0,0,,,3.38,,0.0200,-0.0400,1.25,,,0,12546,0,0,0,768,0,0,0,4220,0,0,0,2900,0,0,0,230,0,0,0,1360,0,0,0,621240,0,0,,,,,0,13362,0,0,1,22282,0,0 +17-43106431-C-G,17,43106431,rs1597900076,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+25G>C,,c.212+25G>C,intron_variant,,,,1,1320978,7.570148783704195e-7,0,0,,,4.80,,0.00,0.0100,0.637,,,0,30508,0,0,0,43650,0,0,0,25020,0,0,0,38826,0,0,0,52986,0,0,0,4860,0,0,1,988946,0,0,,,,,0,80586,0,0,0,55596,0,0 +17-43106432-T-A,17,43106432,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+24A>T,,c.212+24A>T,intron_variant,,,,1,1326248,7.540067920931831e-7,0,0,,,8.54,,0.00,0.00,-0.199,,,0,30622,0,0,0,43776,0,0,0,25092,0,0,0,38868,0,0,0,53010,0,0,0,4888,0,0,1,993166,0,0,,,,,0,81026,0,0,0,55800,0,0 +17-43106433-A-T,17,43106433,rs8176128,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+23T>A,,c.212+23T>A,intron_variant,Benign,188404,,2754,1481922,0.0018583974055314653,35,0,afr,0.03208542,6.92,,0.00,-0.0200,2.48,,,2399,72274,33,0,142,59086,2,0,2,28582,0,0,0,44078,0,0,0,63656,0,0,9,5196,0,0,56,1064194,0,0,0,912,0,0,6,85936,0,0,140,58008,0,0 +17-43106434-G-C,17,43106434,rs2154554527,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+22C>G,,c.212+22C>G,intron_variant,,,,1,1329564,7.521262609396765e-7,0,0,,,7.46,,0.0300,0.0300,0.754,,,1,30728,0,0,0,43746,0,0,0,25074,0,0,0,38862,0,0,0,52994,0,0,0,4898,0,0,0,996566,0,0,,,,,0,80852,0,0,0,55844,0,0 +17-43106435-C-T,17,43106435,rs80358147,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+21G>A,,c.212+21G>A,intron_variant,Likely benign,125612,,27,1492232,0.000018093701247527193,0,0,sas,0.00001584,6.96,,0.00,0.0100,2.43,,,0,72372,0,0,3,59090,0,0,17,28652,0,0,0,44152,0,0,0,63616,0,0,0,5264,0,0,1,1073676,0,0,0,910,0,0,4,86128,0,0,2,58372,0,0 +17-43106439-A-G,17,43106439,rs369461674,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+17T>C,,c.212+17T>C,intron_variant,Likely benign,221064,,6,1373948,0.00000436697749842061,0,0,nfe,0.0000014099999999999998,11.3,,0.00,-0.0200,-0.443,,,1,31540,0,0,0,43964,0,0,0,25412,0,0,0,39126,0,0,0,53098,0,0,0,5058,0,0,5,1036250,0,0,,,,,0,82110,0,0,0,57390,0,0 +17-43106440-T-C,17,43106440,rs1057522049,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+16A>G,,c.212+16A>G,intron_variant,Likely benign,384783,,15,621270,0.00002414409194070211,0,0,sas,0.00009121999999999998,10.9,,0.110,-0.100,0.157,,,0,17530,0,0,0,43106,0,0,0,20726,0,0,0,35882,0,0,0,52852,0,0,0,3612,0,0,4,347412,0,0,,,,,11,67448,0,0,0,32702,0,0 +17-43106441-T-C,17,43106441,rs587780797,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+15A>G,,c.212+15A>G,intron_variant,Likely benign,136081,,1,1378380,7.254893425615578e-7,0,0,,,10.8,,0.00,-0.0400,0.126,,,0,31664,0,0,0,43988,0,0,0,25430,0,0,0,39142,0,0,0,53102,0,0,0,5104,0,0,1,1040152,0,0,,,,,0,82256,0,0,0,57542,0,0 +17-43106443-C-T,17,43106443,rs752088834,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+13G>A,,c.212+13G>A,intron_variant,Likely benign,382526,,3,1393444,0.000002152939048860234,0,0,sas,0.00000402,8.20,,0.00,0.0100,-0.530,,,1,31936,0,0,0,44028,0,0,0,25486,0,0,0,39208,0,0,0,53108,0,0,0,5160,0,0,0,1053966,0,0,,,,,2,82506,0,0,0,58046,0,0 +17-43106446-A-C,17,43106446,rs80358174,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+10T>G,,c.212+10T>G,intron_variant,Likely benign,125610,,2,1403866,0.0000014246373941672496,0,0,,,15.4,,0.0900,-0.0700,0.828,,,0,32170,0,0,1,44042,0,0,0,25630,0,0,0,39256,0,0,0,53150,0,0,0,5230,0,0,1,1063142,0,0,,,,,0,82842,0,0,0,58404,0,0 +17-43106449-T-C,17,43106449,rs762526216,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+7A>G,,c.212+7A>G,splice_region_variant,Likely benign,868795,,1,1410206,7.09116256773833e-7,0,0,,,10.3,,0.0900,-0.0700,0.00,,,0,32318,0,0,0,44256,0,0,0,25736,0,0,0,39298,0,0,0,53228,0,0,0,5282,0,0,0,1067816,0,0,,,,,1,83620,0,0,0,58652,0,0 +17-43106450-A-G,17,43106450,rs2054767256,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+6T>C,,c.212+6T>C,intron_variant,Likely benign,868792,,2,1413934,0.0000014144931800211326,0,0,nfe,3.1e-7,11.3,,0.100,-0.0800,1.01,,,0,32394,0,0,0,44296,0,0,0,25756,0,0,0,39324,0,0,0,53236,0,0,0,5294,0,0,2,1071094,0,0,,,,,0,83764,0,0,0,58776,0,0 +17-43106451-T-A,17,43106451,rs2054767462,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+5A>T,,c.212+5A>T,intron_variant,Conflicting interpretations of pathogenicity,868790,,1,793740,0.0000012598583919167486,0,0,,,8.00,,0.0400,0.0300,-0.524,,,1,14882,0,0,0,926,0,0,0,4944,0,0,0,3418,0,0,0,268,0,0,0,1554,0,0,0,726114,0,0,,,,,0,15606,0,0,0,26028,0,0 +17-43106452-A-G,17,43106452,rs398122652,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+4T>C,,c.212+4T>C,intron_variant,Benign/Likely benign,183921,,3,1420212,0.000002112360689812507,0,0,,,8.20,,0.00,0.0200,-0.403,,,0,32536,0,0,0,44294,0,0,0,25806,0,0,0,39348,0,0,0,53242,0,0,2,5320,0,0,0,1076820,0,0,,,,,0,83902,0,0,1,58944,0,0 +17-43106453-T-C,17,43106453,rs80358083,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.212+3A>G,,c.212+3A>G,intron_variant,Pathogenic,54467,,2,1574274,0.00000127042687613465,0,0,,,23.0,,0.630,-0.680,1.52,,,0,74054,0,0,0,59566,0,0,0,29282,0,0,0,44576,0,0,0,63868,0,0,0,5644,0,0,2,1146498,0,0,0,912,0,0,0,88788,0,0,0,61086,0,0 +17-43106455-C-A,17,43106455,rs80358042,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+1G>T,,c.212+1G>T,splice_donor_variant,Pathogenic,54465,,1,1423700,7.023951675212474e-7,0,0,,,33.0,,0.650,-0.760,8.89,,,0,32628,0,0,0,44444,0,0,0,25862,0,0,0,39376,0,0,0,53272,0,0,0,5352,0,0,1,1079418,0,0,,,,,0,84258,0,0,0,59090,0,0 +17-43106455-C-T,17,43106455,rs80358042,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.212+1G>A,,c.212+1G>A,splice_donor_variant,Pathogenic,37446,,1,1423700,7.023951675212474e-7,0,0,,,33.0,,0.650,-0.760,8.89,,,0,32628,0,0,1,44444,0,0,0,25862,0,0,0,39376,0,0,0,53272,0,0,0,5352,0,0,0,1079418,0,0,,,,,0,84258,0,0,0,59090,0,0 +17-43106457-T-C,17,43106457,rs80357382,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg71Gly,p.Arg71Gly,c.211A>G,missense_variant,Pathogenic,17693,,2,1427816,0.0000014007407116883409,0,0,nfe,3.1e-7,34.0,0.866,0.640,-0.690,6.35,0.00,0.444,0,32720,0,0,0,44476,0,0,0,25902,0,0,0,39408,0,0,0,53294,0,0,0,5380,0,0,2,1082928,0,0,,,,,0,84492,0,0,0,59216,0,0 +17-43106460-T-A,17,43106460,rs2054770550,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys70Ter,p.Lys70Ter,c.208A>T,stop_gained,not provided,868787,,1,1433320,6.976809086596155e-7,0,0,,,37.0,,0.150,-0.140,6.35,,,0,32832,0,0,0,44516,0,0,0,25932,0,0,0,39440,0,0,0,53306,0,0,0,5408,0,0,1,1087818,0,0,,,,,0,84656,0,0,0,59412,0,0 +17-43106461-G-C,17,43106461,rs1567812175,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Thr69Thr,p.Thr69Thr,c.207C>G,synonymous_variant,Likely benign,628390,,1,152050,0.000006576783952647156,0,0,,,9.78,,0.00,0.0400,4.16,,,0,41394,0,0,0,15248,0,0,0,3468,0,0,0,5194,0,0,0,10578,0,0,0,316,0,0,0,68020,0,0,0,912,0,0,1,4832,0,0,0,2088,0,0 +17-43106462-G-A,17,43106462,rs273898675,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr69Ile,p.Thr69Ile,c.206C>T,missense_variant,Uncertain significance,441428,,2,1589614,0.0000012581670770388284,0,0,,,26.0,0.642,0.0400,0.0600,8.78,0.00,0.806,0,74312,0,0,1,59778,0,0,0,29408,0,0,0,44656,0,0,0,63850,0,0,0,5744,0,0,1,1159764,0,0,0,912,0,0,0,89584,0,0,0,61606,0,0 +17-43106464-T-A,17,43106464,rs1555597192,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Ile,p.Ile68Ile,c.204A>T,synonymous_variant,Likely benign,485377,,1,1439812,6.94535119862871e-7,0,0,,,10.2,,0.00,0.0100,2.25,,,0,32990,0,0,0,44554,0,0,0,25960,0,0,0,39460,0,0,0,53312,0,0,0,5450,0,0,0,1093616,0,0,,,,,0,84888,0,0,1,59582,0,0 +17-43106465-A-G,17,43106465,rs80357116,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Thr,p.Ile68Thr,c.203T>C,missense_variant,Uncertain significance,867942,,1,814748,0.0000012273733718892221,0,0,,,25.8,0.776,0.00,0.0300,6.32,0.00,0.444,0,15346,0,0,0,956,0,0,0,5050,0,0,0,3522,0,0,0,274,0,0,0,1590,0,0,0,745320,0,0,,,,,1,16024,0,0,0,26666,0,0 +17-43106466-T-C,17,43106466,rs1555597195,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile68Val,p.Ile68Val,c.202A>G,missense_variant,Uncertain significance,479193,,4,1442860,0.000002772271738075766,0,0,nfe,8.500000000000001e-7,22.8,0.604,0.00,0.0100,3.74,0.320,0.344,0,33058,0,0,0,44582,0,0,0,25982,0,0,0,39484,0,0,0,53316,0,0,0,5466,0,0,4,1096230,0,0,,,,,0,85046,0,0,0,59696,0,0 +17-43106468-T-G,17,43106468,rs1060502331,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Asp67Ala,p.Asp67Ala,c.200A>C,missense_variant,Uncertain significance,867325,,1,152246,0.0000065683170658014006,0,0,,,20.4,0.580,0.00,0.0100,0.122,,,0,41474,0,0,0,15272,0,0,0,3470,0,0,1,5204,0,0,0,10624,0,0,0,316,0,0,0,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43106469-C-A,17,43106469,rs80357102,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp67Tyr,p.Asp67Tyr,c.199G>T,missense_variant,Benign,54431,,132,1596780,0.00008266636606169917,0,0,nfe,0.0000922,17.8,0.658,0.190,0.100,0.302,0.0900,0.240,1,74666,0,0,2,59860,0,0,0,29466,0,0,0,44696,0,0,0,63924,0,0,0,5778,0,0,126,1165696,0,0,0,912,0,0,0,89912,0,0,3,61870,0,0 +17-43106470-A-G,17,43106470,rs878854936,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn66Asn,p.Asn66Asn,c.198T>C,synonymous_variant,Likely benign,240778,,3,1445600,0.0000020752628666297733,0,0,eas,0.00002013,8.61,,0.00,0.0100,0.174,,,0,33096,0,0,0,44584,0,0,0,26004,0,0,3,39506,0,0,0,53316,0,0,0,5492,0,0,0,1098674,0,0,,,,,0,85120,0,0,0,59808,0,0 +17-43106470-A-T,17,43106470,rs878854936,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn66Lys,p.Asn66Lys,c.198T>A,missense_variant,Uncertain significance,820472,,5,1445600,0.000003458771444382955,0,0,nfe,0.0000013299999999999998,23.3,0.554,0.00,0.0100,0.174,0.00,0.715,0,33096,0,0,0,44584,0,0,0,26004,0,0,0,39506,0,0,0,53316,0,0,0,5492,0,0,5,1098674,0,0,,,,,0,85120,0,0,0,59808,0,0 +17-43106475-T-C,17,43106475,rs756948486,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys65Glu,p.Lys65Glu,c.193A>G,missense_variant,Uncertain significance,531303,,13,1448596,0.000008974206749155735,0,0,sas,0.00008975999999999998,27.7,0.670,0.00,0.0200,6.35,0.00,0.643,0,33168,0,0,0,44612,0,0,0,26030,0,0,0,39526,0,0,0,53340,0,0,0,5510,0,0,0,1101186,0,0,,,,,13,85334,0,0,0,59890,0,0 +17-43106477-C-T,17,43106477,rs55851803,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys64Tyr,p.Cys64Tyr,c.191G>A,missense_variant,Pathogenic,54400,,2,1449660,0.00000137963384517749,0,0,,,27.2,0.954,0.00,0.0300,8.89,0.00,0.972,0,33200,0,0,0,44632,0,0,0,26042,0,0,0,39538,0,0,0,53350,0,0,0,5514,0,0,1,1102046,0,0,,,,,0,85412,0,0,1,59926,0,0 +17-43106478-A-C,17,43106478,rs80357064,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys64Gly,p.Cys64Gly,c.190T>G,missense_variant,Pathogenic,17660,,3,1602342,0.000001872259480185878,0,0,afr,0.00001067,31.0,0.947,0.650,-0.750,6.32,0.00,0.958,3,74672,0,0,0,59920,0,0,0,29520,0,0,0,44742,0,0,0,63968,0,0,0,5844,0,0,0,1170428,0,0,0,912,0,0,0,90304,0,0,0,62032,0,0 +17-43106479-T-A,17,43106479,rs80356956,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu63Phe,p.Leu63Phe,c.189A>T,missense_variant,Conflicting interpretations of pathogenicity,54389,,5,1450476,0.0000034471442478193368,0,0,nfe,0.0000013299999999999998,23.8,0.613,0.00,-0.0500,3.58,0.00,0.972,0,33236,0,0,0,44646,0,0,0,26052,0,0,0,39536,0,0,0,53350,0,0,0,5524,0,0,5,1102684,0,0,,,,,0,85494,0,0,0,59954,0,0 +17-43106480-A-T,17,43106480,rs80357086,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu63Ter,p.Leu63Ter,c.188T>A,stop_gained,Pathogenic,54381,,5,779284,0.000006416146103346149,0,0,eas,0.00004764999999999997,36.0,,0.290,0.260,6.32,,,0,59120,0,0,0,58948,0,0,0,24414,0,0,5,41164,0,0,0,63702,0,0,0,4232,0,0,0,417614,0,0,0,912,0,0,0,74074,0,0,0,35104,0,0 +17-43106483-G-A,17,43106483,rs786202286,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro62Leu,p.Pro62Leu,c.185C>T,missense_variant,Uncertain significance,865233,,2,1451958,0.0000013774503119236232,0,0,,,27.0,0.919,0.130,-0.0600,8.78,0.00,0.990,0,33254,0,0,0,44662,0,0,0,26046,0,0,1,39556,0,0,0,53356,0,0,0,5528,0,0,1,1104026,0,0,,,,,0,85540,0,0,0,59990,0,0 +17-43106485-A-G,17,43106485,rs895070717,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys61Cys,p.Cys61Cys,c.183T>C,synonymous_variant,Likely benign,531482,,4,779404,0.000005132126599298952,0,0,nfe,0.0000019100000000000003,12.0,,0.00,0.0200,3.73,,,0,59112,0,0,0,58962,0,0,0,24416,0,0,0,41170,0,0,0,63700,0,0,0,4242,0,0,3,417658,0,0,0,912,0,0,0,74132,0,0,1,35100,0,0 +17-43106486-C-T,17,43106486,rs80357093,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys61Tyr,p.Cys61Tyr,c.182G>A,missense_variant,Pathogenic,54364,,2,1452504,0.0000013769325247985548,0,0,,,25.8,0.960,0.250,0.680,8.89,0.00,0.942,0,33282,0,0,0,44666,0,0,0,26052,0,0,0,39564,0,0,0,53352,0,0,0,5538,0,0,0,1104496,0,0,,,,,1,85550,0,0,1,60004,0,0 +17-43106487-A-C,17,43106487,rs28897672,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys61Gly,p.Cys61Gly,c.181T>G,missense_variant,Pathogenic,17661,,30,1604818,0.00001869370857006838,0,0,nfe,0.00001656,26.8,0.948,0.160,-0.110,6.32,0.00,0.0260,0,74730,0,0,0,59940,0,0,0,29524,0,0,0,44766,0,0,1,63978,0,0,0,5856,0,0,28,1172588,0,0,0,912,0,0,0,90418,0,0,1,62106,0,0 +17-43106489-T-G,17,43106489,rs373655067,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln60Pro,p.Gln60Pro,c.179A>C,missense_variant,not provided,867306,,2,779462,0.0000025658723581136733,0,0,,,26.0,0.693,0.100,0.110,3.72,0.00,0.0340,0,59112,0,0,0,58960,0,0,1,24416,0,0,0,41166,0,0,0,63706,0,0,0,4262,0,0,0,417688,0,0,0,912,0,0,0,74136,0,0,1,35104,0,0 +17-43106489-T-C,17,43106489,rs373655067,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln60Arg,p.Gln60Arg,c.179A>G,missense_variant,Uncertain significance,141093,,4,779462,0.0000051317447162273465,0,0,,,25.5,0.674,0.0600,0.0400,3.72,0.00,0.626,2,59112,0,0,1,58960,0,0,0,24416,0,0,0,41166,0,0,0,63706,0,0,0,4262,0,0,1,417688,0,0,0,912,0,0,0,74136,0,0,0,35104,0,0 +17-43106492-G-A,17,43106492,rs199522616,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ser59Leu,p.Ser59Leu,c.176C>T,missense_variant,Conflicting interpretations of pathogenicity,820046,,7,1604856,0.000004361762052171659,0,0,nfe,0.00000248,24.0,0.660,0.00,-0.180,8.78,0.170,0.903,0,74806,0,0,0,59942,0,0,0,29518,0,0,0,44754,0,0,0,63962,0,0,0,5838,0,0,7,1172566,0,0,0,912,0,0,0,90444,0,0,0,62114,0,0 +17-43106493-A-C,17,43106493,rs2054783250,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser59Ala,p.Ser59Ala,c.175T>G,missense_variant,not provided,865225,,1,1452584,6.88428345624074e-7,0,0,,,20.2,0.556,0.0400,0.0200,2.92,0.240,0.699,0,33264,0,0,0,44676,0,0,0,26042,0,0,1,39572,0,0,0,53368,0,0,0,5556,0,0,0,1104452,0,0,,,,,0,85642,0,0,0,60012,0,0 +17-43106495-G-A,17,43106495,rs2054783819,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro58Leu,p.Pro58Leu,c.173C>T,missense_variant,not provided,868244,,1,825102,0.000001211971368388393,0,0,,,22.6,0.731,0.210,-0.270,4.92,0.110,0.903,0,15598,0,0,0,974,0,0,0,5100,0,0,0,3598,0,0,0,276,0,0,0,1602,0,0,1,754668,0,0,,,,,0,16298,0,0,0,26988,0,0 +17-43106496-G-T,17,43106496,rs397508904,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro58Thr,p.Pro58Thr,c.172C>A,missense_variant,Conflicting interpretations of pathogenicity,182122,,4,1452216,0.0000027544111895200165,0,0,nfe,8.500000000000001e-7,22.8,0.641,0.100,0.0600,5.81,0.110,0.903,0,33254,0,0,0,44678,0,0,0,26044,0,0,0,39562,0,0,0,53366,0,0,0,5556,0,0,4,1104146,0,0,,,,,0,85616,0,0,0,59994,0,0 +17-43106496-G-C,17,43106496,rs397508904,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro58Ala,p.Pro58Ala,c.172C>G,missense_variant,Conflicting interpretations of pathogenicity,54337,,5,1604394,0.000003116441472605856,0,0,nfe,6.800000000000001e-7,23.9,0.696,0.0300,-0.0400,5.81,0.0900,0.760,1,74770,0,0,0,59936,0,0,0,29514,0,0,0,44754,0,0,0,63960,0,0,0,5850,0,0,3,1172154,0,0,0,906,0,0,0,90444,0,0,1,62106,0,0 +17-43106497-C-A,17,43106497,rs1057523606,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Gly,p.Gly57Gly,c.171G>T,synonymous_variant,Likely benign,389985,,1,627338,0.0000015940370262920468,0,0,,,7.78,,0.0200,-0.0600,0.319,,,0,17664,0,0,0,43700,0,0,0,20940,0,0,0,35970,0,0,0,53094,0,0,0,3954,0,0,1,349648,0,0,,,,,0,69344,0,0,0,33024,0,0 +17-43106498-C-T,17,43106498,rs1597900455,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Glu,p.Gly57Glu,c.170G>A,missense_variant,Uncertain significance,1778531,,1,1452238,6.885923657141598e-7,0,0,,,24.6,0.676,0.170,0.0600,7.00,0.00,0.867,0,33246,0,0,0,44672,0,0,0,26042,0,0,0,39566,0,0,0,53372,0,0,0,5548,0,0,0,1104216,0,0,,,,,1,85598,0,0,0,59978,0,0 +17-43106499-C-G,17,43106499,rs879255289,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gly57Arg,p.Gly57Arg,c.169G>C,missense_variant,Uncertain significance,252391,,1,152122,0.000006573671132380589,0,0,,,24.9,0.604,0.200,0.100,7.02,,,0,41412,0,0,0,15262,0,0,0,3470,0,0,1,5208,0,0,0,10604,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4822,0,0,0,2090,0,0 +17-43106499-C-T,17,43106499,rs879255289,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gly57Arg,p.Gly57Arg,c.169G>A,missense_variant,Uncertain significance,482934,,1,1452258,6.885828826558367e-7,0,0,,,24.9,0.606,0.120,0.0600,7.02,0.00,0.915,0,33246,0,0,0,44664,0,0,0,26030,0,0,1,39560,0,0,0,53376,0,0,0,5544,0,0,0,1104232,0,0,,,,,0,85616,0,0,0,59990,0,0 +17-43106501-T-C,17,43106501,rs397508897,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys56Arg,p.Lys56Arg,c.167A>G,missense_variant,not provided,54324,,1,1451810,6.88795365784779e-7,0,0,,,23.0,0.630,0.0300,0.0300,2.33,0.0500,0.777,0,33248,0,0,0,44682,0,0,0,26036,0,0,0,39560,0,0,0,53370,0,0,0,5536,0,0,1,1103770,0,0,,,,,0,85618,0,0,0,59990,0,0 +17-43106502-T-C,17,43106502,rs2054785999,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys56Glu,p.Lys56Glu,c.166A>G,missense_variant,not provided,867294,,1,627396,0.000001593889664581859,0,0,,,27.1,0.648,0.0400,-0.0300,6.35,0.00,0.643,0,17672,0,0,0,43708,0,0,0,20946,0,0,0,35966,0,0,0,53098,0,0,0,3934,0,0,0,349714,0,0,,,,,1,69336,0,0,0,33022,0,0 +17-43106506-C-G,17,43106506,rs772226744,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54His,p.Gln54His,c.162G>C,missense_variant,Uncertain significance,865213,,1,1451140,6.891133867166504e-7,0,0,,,23.6,0.593,0.280,-0.330,5.96,0.0400,0.956,0,33234,0,0,0,44678,0,0,0,26034,0,0,0,39560,0,0,0,53370,0,0,0,5520,0,0,0,1103186,0,0,,,,,1,85594,0,0,0,59964,0,0 +17-43106507-T-C,17,43106507,rs397507189,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54Arg,p.Gln54Arg,c.161A>G,missense_variant,Uncertain significance,37422,,1,823798,0.000001213889812793913,0,0,,,25.2,0.616,0.0500,0.0700,6.35,0.0200,0.626,0,15558,0,0,0,974,0,0,0,5086,0,0,0,3590,0,0,0,276,0,0,0,1596,0,0,1,753490,0,0,,,,,0,16274,0,0,0,26954,0,0 +17-43106508-G-T,17,43106508,rs80356864,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln54Lys,p.Gln54Lys,c.160C>A,missense_variant,Uncertain significance,91559,,1,823286,0.0000012146447285633426,0,0,,,20.5,0.575,0.0400,0.0300,8.74,0.480,0.159,0,15550,0,0,0,974,0,0,0,5084,0,0,0,3588,0,0,0,276,0,0,0,1598,0,0,1,753034,0,0,,,,,0,16256,0,0,0,26926,0,0 +17-43106510-T-C,17,43106510,rs1438140067,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asn53Ser,p.Asn53Ser,c.158A>G,missense_variant,Conflicting interpretations of pathogenicity,867899,,4,1449802,0.0000027589974355118835,0,0,sas,0.00000388,23.0,0.423,0.0700,-0.130,4.67,0.410,0.828,0,33206,0,0,0,44678,0,0,0,26026,0,0,0,39550,0,0,0,53376,0,0,0,5512,0,0,2,1101950,0,0,,,,,2,85560,0,0,0,59944,0,0 +17-43106512-G-A,17,43106512,rs2054789276,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Leu52Leu,p.Leu52Leu,c.156C>T,synonymous_variant,not provided,867894,,1,152120,0.000006573757559821194,0,0,,,13.6,,0.290,-0.360,0.571,,,0,41414,0,0,0,15258,0,0,0,3468,0,0,0,5204,0,0,0,10602,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43106512-G-T,17,43106512,rs2054789276,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu52Leu,p.Leu52Leu,c.156C>A,synonymous_variant,not provided,867284,,1,1449306,6.899854137083542e-7,0,0,,,11.2,,0.150,-0.190,0.571,,,0,33186,0,0,0,44680,0,0,0,26018,0,0,0,39542,0,0,0,53368,0,0,0,5506,0,0,0,1101552,0,0,,,,,1,85528,0,0,0,59926,0,0 +17-43106514-G-A,17,43106514,rs80357084,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu52Phe,p.Leu52Phe,c.154C>T,missense_variant,Conflicting interpretations of pathogenicity,37421,,104,1600984,0.00006496004956951475,1,0,eas,0.0019415499999999998,26.1,0.683,0.130,-0.180,5.77,0.00,0.985,0,74578,0,0,0,59936,0,0,0,29494,0,0,103,44742,1,0,0,63952,0,0,0,5824,0,0,1,1169194,0,0,0,912,0,0,0,90370,0,0,0,61982,0,0 +17-43106516-A-G,17,43106516,rs1555597285,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu51Pro,p.Leu51Pro,c.152T>C,missense_variant,Uncertain significance,433685,,1,1448042,6.905877039478136e-7,0,0,,,29.0,0.821,0.0300,-0.0200,6.30,0.00,0.989,0,33164,0,0,0,44664,0,0,0,26016,0,0,0,39534,0,0,0,53368,0,0,0,5502,0,0,0,1100446,0,0,,,,,1,85502,0,0,0,59846,0,0 +17-43106520-T-C,17,43106520,rs747212786,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys50Glu,p.Lys50Glu,c.148A>G,missense_variant,not provided,867890,,1,1445786,6.916652948638318e-7,0,0,,,26.5,0.605,0.0500,0.0700,6.32,0.00,0.877,0,33112,0,0,0,44660,0,0,0,26008,0,0,0,39522,0,0,0,53348,0,0,0,5472,0,0,0,1098436,0,0,,,,,1,85444,0,0,0,59784,0,0 +17-43106522-A-C,17,43106522,rs273897660,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu49Arg,p.Leu49Arg,c.146T>G,missense_variant,Uncertain significance,54263,,3,1595030,0.0000018808423666012551,0,0,,,26.6,0.649,0.0600,0.0700,6.30,0.00,0.891,0,74480,0,0,0,59900,0,0,0,29456,0,0,0,44700,0,0,0,63958,0,0,0,5776,0,0,2,1163882,0,0,0,912,0,0,0,90166,0,0,1,61800,0,0 +17-43106523-G-A,17,43106523,rs2054792700,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu49Leu,p.Leu49Leu,c.145C>T,synonymous_variant,not provided,867275,,1,1443004,6.92998772006176e-7,0,0,,,12.9,,0.120,-0.280,4.11,,,0,33044,0,0,0,44636,0,0,0,25982,0,0,0,39502,0,0,0,53330,0,0,0,5462,0,0,1,1096000,0,0,,,,,0,85326,0,0,0,59722,0,0 +17-43106524-CA-C,17,43106524,rs80357637,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met48SerfsTer2,p.Met48SerfsTer2,c.143del,frameshift_variant,Pathogenic,37412,,1,1441772,6.935909422571669e-7,0,0,,,27.3,,0.0500,0.110,7.07,,,0,33000,0,0,0,44626,0,0,0,25984,0,0,0,39490,0,0,0,53330,0,0,0,5446,0,0,1,1094998,0,0,,,,,0,85240,0,0,0,59658,0,0 +17-43106524-C-T,17,43106524,rs587783040,C,T,gnomAD Genomes,NA,PASS,ENST00000493795.5,p.Met1?,p.Met1?,c.3G>A,start_lost,Conflicting interpretations of pathogenicity,156487,,1,152098,0.000006574708411681942,0,0,,,24.9,0.532,0.140,-0.200,7.07,0.00,0.498,1,41394,0,0,0,15260,0,0,0,3470,0,0,0,5196,0,0,0,10604,0,0,0,316,0,0,0,68024,0,0,0,910,0,0,0,4832,0,0,0,2092,0,0 +17-43106527-G-A,17,43106527,rs398122635,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Cys,p.Cys47Cys,c.141C>T,synonymous_variant,Likely benign,427311,,10,1439662,0.000006946074842567213,0,0,sas,0.00006320999999999999,10.9,,0.100,-0.0800,0.355,,,0,32968,0,0,0,44604,0,0,0,25962,0,0,0,39476,0,0,0,53306,0,0,0,5442,0,0,0,1093158,0,0,,,,,10,85164,0,0,0,59582,0,0 +17-43106528-C-T,17,43106528,rs80357150,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Tyr,p.Cys47Tyr,c.140G>A,missense_variant,Pathogenic,54246,,4,1438358,0.0000027809488319319668,0,0,nfe,8.6e-7,26.0,0.919,0.0600,-0.0400,8.85,0.00,0.223,0,32914,0,0,0,44600,0,0,0,25954,0,0,0,39474,0,0,0,53312,0,0,0,5422,0,0,4,1091942,0,0,,,,,0,85168,0,0,0,59572,0,0 +17-43106528-CA-C,17,43106528,,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47AlafsTer3,p.Cys47AlafsTer3,c.139del,frameshift_variant,,,,1,1438356,6.952381746938867e-7,0,0,,,26.2,,0.00,0.0500,8.85,,,0,32914,0,0,0,44600,0,0,0,25954,0,0,0,39474,0,0,0,53312,0,0,0,5422,0,0,0,1091940,0,0,,,,,1,85168,0,0,0,59572,0,0 +17-43106529-A-C,17,43106529,rs80357370,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys47Gly,p.Cys47Gly,c.139T>G,missense_variant,Likely pathogenic,54242,,1,809440,0.0000012354220201620873,0,0,,,25.9,0.940,0.00,0.0400,6.30,0.00,0.917,0,15250,0,0,0,958,0,0,0,5008,0,0,0,3512,0,0,0,272,0,0,0,1570,0,0,1,740440,0,0,,,,,0,15960,0,0,0,26470,0,0 +17-43106533-T-C,17,43106533,rs80356883,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys45Lys,p.Lys45Lys,c.135A>G,splice_region_variant,not provided,867875,,1,806750,0.0000012395413696932134,0,0,,,14.2,,0.00,0.0700,0.720,,,0,15204,0,0,0,958,0,0,0,4990,0,0,0,3500,0,0,0,272,0,0,0,1570,0,0,1,737956,0,0,,,,,0,15890,0,0,0,26410,0,0 +17-43106534-C-A,17,43106534,rs80358158,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-1G>T,,c.135-1G>T,splice_acceptor_variant,Pathogenic,37404,,7,1583254,0.000004421274160684262,0,0,nfe,0.0000025200000000000004,33.0,,0.860,-0.830,8.85,,,0,74152,0,0,0,59838,0,0,0,29366,0,0,0,44620,0,0,0,63866,0,0,0,5702,0,0,7,1153704,0,0,0,912,0,0,0,89718,0,0,0,61376,0,0 +17-43106536-A-G,17,43106536,rs759417413,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3T>C,,c.135-3T>C,splice_region_variant,Conflicting interpretations of pathogenicity,409343,,22,1424910,0.000015439571622067357,0,0,sas,0.00012686999999999998,10.5,,0.00,0.110,0.347,,,0,32590,0,0,4,44550,0,0,0,25868,0,0,0,39388,0,0,0,53288,0,0,0,5326,0,0,0,1080052,0,0,,,,,17,84726,0,0,1,59122,0,0 +17-43106537-T-C,17,43106537,rs1597900683,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4A>G,,c.135-4A>G,splice_region_variant,Likely benign,818989,,2,625774,0.0000031960420215604993,0,0,nfe,9.5e-7,10.4,,0.00,0.0300,0.792,,,0,17594,0,0,0,43600,0,0,0,20910,0,0,0,35922,0,0,0,53012,0,0,0,3770,0,0,2,349052,0,0,,,,,0,68986,0,0,0,32928,0,0 +17-43106540-A-AT,17,43106540,rs397507186,A,AT,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-8dup,,c.135-8dup,splice_region_variant,Conflicting interpretations of pathogenicity,37405,,1,1417560,7.054375123451565e-7,0,0,,,13.9,,0.150,-0.230,1.79,,,0,32370,0,0,0,44506,0,0,0,25814,0,0,0,39328,0,0,0,53256,0,0,0,5288,0,0,1,1073726,0,0,,,,,0,84482,0,0,0,58790,0,0 +17-43106544-T-C,17,43106544,rs769549104,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-11A>G,,c.135-11A>G,intron_variant,Conflicting interpretations of pathogenicity,215869,,4,1408816,0.000002839263608590476,0,0,nfe,8.8e-7,13.7,,0.00,0.0100,0.341,,,0,32180,0,0,0,44404,0,0,0,25736,0,0,0,39270,0,0,0,53222,0,0,0,5242,0,0,4,1066098,0,0,,,,,0,84146,0,0,0,58518,0,0 +17-43106544-TAAAG-T,17,43106544,rs878854931,TAAAG,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-15_135-12del,,c.135-15_135-12del,intron_variant,Benign/Likely benign,240772,,3,1560862,0.000001922014886645969,0,0,,,15.3,,0.100,-0.140,0.341,,,0,73576,0,0,1,59664,0,0,0,29208,0,0,0,44464,0,0,0,63818,0,0,0,5558,0,0,1,1134084,0,0,0,912,0,0,0,88972,0,0,1,60606,0,0 +17-43106549-A-G,17,43106549,rs775525479,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-16T>C,,c.135-16T>C,intron_variant,,,,2,1393768,0.0000014349590462688196,0,0,,,15.8,,0.0800,-0.130,1.17,,,0,31784,0,0,0,44296,0,0,0,25592,0,0,0,39172,0,0,1,53152,0,0,0,5166,0,0,0,1052974,0,0,,,,,1,83664,0,0,0,57968,0,0 +17-43106551-A-C,17,43106551,rs80358085,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-18T>G,,c.135-18T>G,intron_variant,Uncertain significance,54214,,5,1534872,0.000003257600633798779,0,0,nfe,0.0000013199999999999999,13.9,,0.220,-0.330,0.347,,,0,73008,0,0,0,59476,0,0,0,28980,0,0,0,44282,0,0,0,63720,0,0,0,5400,0,0,5,1111322,0,0,0,912,0,0,0,88090,0,0,0,59682,0,0 +17-43106553-A-G,17,43106553,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-20T>C,,c.135-20T>C,intron_variant,,,,3,1378980,0.0000021755210372884305,0,0,nfe,7.7e-7,18.3,,0.0900,-0.160,0.416,,,0,31470,0,0,0,44160,0,0,0,25476,0,0,0,39076,0,0,0,53084,0,0,0,5042,0,0,3,1040086,0,0,,,,,0,83138,0,0,0,57448,0,0 +17-43106553-A-C,17,43106553,rs80358025,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-20T>G,,c.135-20T>G,intron_variant,Conflicting interpretations of pathogenicity,125566,,1,1378980,7.251736790961435e-7,0,0,,,19.4,,0.200,-0.300,0.416,,,0,31470,0,0,0,44160,0,0,0,25476,0,0,0,39076,0,0,0,53084,0,0,0,5042,0,0,1,1040086,0,0,,,,,0,83138,0,0,0,57448,0,0 +17-43106554-AAG-A,17,43106554,,AAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-23_135-22del,,c.135-23_135-22del,intron_variant,,,,1,1373690,7.279662806018825e-7,0,0,,,16.3,,0.00,-0.0500,4.28,,,0,31326,0,0,0,44100,0,0,0,25458,0,0,0,39014,0,0,0,53022,0,0,0,5012,0,0,0,1035590,0,0,,,,,1,82928,0,0,0,57240,0,0 +17-43106554-A-G,17,43106554,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-21T>C,,c.135-21T>C,intron_variant,,,,1,1373690,7.279662806018825e-7,0,0,,,18.2,,0.0100,0.0200,4.28,,,0,31326,0,0,0,44100,0,0,0,25458,0,0,1,39014,0,0,0,53022,0,0,0,5012,0,0,0,1035590,0,0,,,,,0,82928,0,0,0,57240,0,0 +17-43106555-A-G,17,43106555,rs1240099693,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-22T>C,,c.135-22T>C,intron_variant,,,,1,1369894,7.299834877735066e-7,0,0,,,19.3,,0.0700,-0.170,2.83,,,0,31192,0,0,0,44066,0,0,0,25408,0,0,1,38950,0,0,0,52984,0,0,0,4974,0,0,0,1032484,0,0,,,,,0,82726,0,0,0,57110,0,0 +17-43106556-G-A,17,43106556,rs763633355,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-23C>T,,c.135-23C>T,intron_variant,Benign/Likely benign,548719,,133,1519490,0.00008752936840650481,0,0,amr,0.0007335900000000001,16.1,,0.00,0.0100,1.96,,,0,72564,0,0,55,59154,0,0,0,28840,0,0,0,44106,0,0,0,63502,0,0,0,5288,0,0,2,1098654,0,0,0,912,0,0,70,87410,0,0,6,59060,0,0 +17-43106556-G-GA,17,43106556,,G,GA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-24dup,,c.135-24dup,intron_variant,,,,1,1367456,7.312849554208691e-7,0,0,,,15.0,,0.00,0.0100,1.96,,,0,31148,0,0,0,43916,0,0,0,25370,0,0,0,38908,0,0,0,52928,0,0,0,4972,0,0,1,1030660,0,0,,,,,0,82580,0,0,0,56974,0,0 +17-43106556-G-T,17,43106556,rs763633355,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-23C>A,,c.135-23C>A,intron_variant,,,,4,1519488,0.000002632465672647629,0,0,nfe,7.3e-7,17.2,,0.0800,-0.110,1.96,,,0,72564,0,0,0,59154,0,0,0,28840,0,0,0,44106,0,0,0,63502,0,0,0,5288,0,0,3,1098654,0,0,0,912,0,0,1,87408,0,0,0,59060,0,0 +17-43106557-A-G,17,43106557,rs1382771356,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-24T>C,,c.135-24T>C,intron_variant,,,,1,152214,0.0000065696979252893955,0,0,,,16.6,,0.0200,-0.0800,0.586,,,0,41474,0,0,0,15256,0,0,0,3472,0,0,0,5208,0,0,0,10624,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4836,0,0,0,2088,0,0 +17-43106559-CAATTT-C,17,43106559,,CAATTT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-31_135-27del,,c.135-31_135-27del,intron_variant,,,,3,1341444,0.000002236396003113063,0,0,nfe,3.3e-7,4.46,,0.0300,-0.120,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,2,1007372,0,0,,,,,1,81944,0,0,0,56064,0,0 +17-43106559-C-G,17,43106559,rs2054800462,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>C,,c.135-26G>C,intron_variant,,,,1,1341440,7.454675572519084e-7,0,0,,,4.06,,0.00,-0.0100,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007368,0,0,,,,,0,81944,0,0,0,56064,0,0 +17-43106559-C-A,17,43106559,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>T,,c.135-26G>T,intron_variant,,,,1,1341442,7.454664458098077e-7,0,0,,,3.86,,0.00,0.0200,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007370,0,0,,,,,0,81944,0,0,0,56064,0,0 +17-43106559-C-T,17,43106559,rs2054800462,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-26G>A,,c.135-26G>A,intron_variant,,,,1,1341442,7.454664458098077e-7,0,0,,,5.65,,0.0200,-0.0400,0.0540,,,0,30574,0,0,0,43930,0,0,0,25194,0,0,0,38696,0,0,0,52798,0,0,0,4872,0,0,1,1007370,0,0,,,,,0,81944,0,0,0,56064,0,0 +17-43106560-A-T,17,43106560,rs373363231,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-27T>A,,c.135-27T>A,intron_variant,Benign/Likely benign,1297482,,29,1482874,0.00001955661775713918,0,0,nfe,0.00001821,10.3,,0.100,-0.280,0.879,,,0,71744,0,0,0,59112,0,0,0,28598,0,0,0,43826,0,0,0,63384,0,0,0,5128,0,0,28,1065922,0,0,0,912,0,0,0,86398,0,0,1,57850,0,0 +17-43106561-A-C,17,43106561,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-28T>G,,c.135-28T>G,intron_variant,,,,2,706560,0.0000028306159420289855,0,0,nfe,5.1e-7,7.63,,0.0100,-0.0300,0.0540,,,0,13002,0,0,0,816,0,0,0,4408,0,0,0,3014,0,0,0,242,0,0,0,1384,0,0,2,646822,0,0,,,,,0,13716,0,0,0,23156,0,0 +17-43106562-T-A,17,43106562,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-29A>T,,c.135-29A>T,intron_variant,,,,1,1306724,7.652725441638786e-7,0,0,,,1.80,,0.00,0.0600,0.100,,,0,29744,0,0,0,43722,0,0,0,24962,0,0,0,38416,0,0,0,52648,0,0,0,4680,0,0,1,976732,0,0,,,,,0,80892,0,0,0,54928,0,0 +17-43106563-T-C,17,43106563,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-30A>G,,c.135-30A>G,intron_variant,,,,1,1306250,7.655502392344498e-7,0,0,,,12.6,,0.300,-0.360,0.410,,,0,29714,0,0,0,43730,0,0,0,24974,0,0,0,38412,0,0,0,52624,0,0,0,4686,0,0,0,976312,0,0,,,,,1,80862,0,0,0,54936,0,0 +17-43106567-T-C,17,43106567,rs1362430895,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-34A>G,,c.135-34A>G,intron_variant,,,,3,1449508,0.0000020696677769284475,0,0,,,3.81,,0.0500,-0.150,-0.647,,,0,70890,0,0,0,58620,0,0,0,28294,0,0,1,43312,0,0,0,62872,0,0,0,4820,0,0,0,1038090,0,0,0,912,0,0,2,85056,0,0,0,56642,0,0 +17-43106570-A-G,17,43106570,rs2054801035,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-37T>C,,c.135-37T>C,intron_variant,,,,1,687590,0.0000014543550662458732,0,0,,,10.2,,0.0300,-0.0700,0.212,,,0,12720,0,0,0,796,0,0,0,4284,0,0,0,2948,0,0,0,220,0,0,0,1332,0,0,1,629420,0,0,,,,,0,13344,0,0,0,22526,0,0 +17-43106573-T-A,17,43106573,rs1459721671,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-40A>T,,c.135-40A>T,intron_variant,,,,5,1283024,0.00000389704323535647,0,0,nfe,9.799999999999997e-7,12.2,,0.00,-0.0300,1.51,,,1,29110,0,0,0,43162,0,0,0,24700,0,0,0,37838,0,0,0,52058,0,0,0,4400,0,0,4,957984,0,0,,,,,0,79740,0,0,0,54032,0,0 +17-43106574-C-A,17,43106574,rs570133578,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-41G>T,,c.135-41G>T,intron_variant,,,,2,607232,0.000003293634064080944,0,0,nfe,9.799999999999997e-7,2.78,,0.0100,-0.160,0.386,,,0,16554,0,0,0,42182,0,0,0,20460,0,0,0,34878,0,0,0,51744,0,0,0,3048,0,0,2,340050,0,0,,,,,0,66450,0,0,0,31866,0,0 +17-43106574-C-T,17,43106574,rs570133578,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-41G>A,,c.135-41G>A,intron_variant,,,,1,152240,0.000006568575932737782,0,0,,,3.49,,0.00,0.0100,0.386,,,0,41542,0,0,0,15278,0,0,0,3472,0,0,1,5190,0,0,0,10598,0,0,0,294,0,0,0,68018,0,0,0,912,0,0,0,4828,0,0,0,2108,0,0 +17-43106575-CT-C,17,43106575,,CT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-43del,,c.135-43del,intron_variant,,,,1,1275236,7.841685774241003e-7,0,0,,,8.83,,0.0100,0.00,0.498,,,0,28894,0,0,0,42866,0,0,0,24612,0,0,0,37586,0,0,0,51900,0,0,0,4362,0,0,1,951992,0,0,,,,,0,79254,0,0,0,53770,0,0 +17-43106575-C-G,17,43106575,rs377388626,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-42G>C,,c.135-42G>C,intron_variant,,,,3,1427338,0.0000021018147068178663,0,0,afr,0.00001133,2.17,,0.00,0.0200,0.498,,,3,70330,0,0,0,58126,0,0,0,28084,0,0,0,42784,0,0,0,62492,0,0,0,4678,0,0,0,1019994,0,0,0,910,0,0,0,84080,0,0,0,55860,0,0 +17-43106576-T-C,17,43106576,rs1459541739,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-43A>G,,c.135-43A>G,intron_variant,,,,1,605974,0.000001650235818698492,0,0,,,12.9,,0.00,-0.0300,2.37,,,0,16478,0,0,0,42020,0,0,0,20422,0,0,0,34780,0,0,0,51664,0,0,0,3038,0,0,1,339416,0,0,,,,,0,66320,0,0,0,31836,0,0 +17-43106578-TTGTAGA-T,17,43106578,rs754176240,TTGTAGA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-51_135-46del,,c.135-51_135-46del,intron_variant,,,,2,1262880,0.000001583681743316863,0,0,sas,0.00000421,5.36,,0.00,0.0100,0.151,,,0,28614,0,0,0,42692,0,0,0,24546,0,0,0,37462,0,0,0,51756,0,0,0,4270,0,0,0,941332,0,0,,,,,2,78864,0,0,0,53344,0,0 +17-43106578-T-C,17,43106578,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-45A>G,,c.135-45A>G,intron_variant,,,,2,1262880,0.000001583681743316863,0,0,nfe,3.5000000000000004e-7,8.49,,0.0100,-0.0200,0.151,,,0,28614,0,0,0,42692,0,0,0,24546,0,0,0,37462,0,0,0,51756,0,0,0,4270,0,0,2,941332,0,0,,,,,0,78864,0,0,0,53344,0,0 +17-43106579-T-C,17,43106579,rs2054801752,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-46A>G,,c.135-46A>G,intron_variant,,,,1,152192,0.000006570647603027754,0,0,,,3.33,,0.00,-0.0100,-0.231,,,0,41436,0,0,1,15274,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4834,0,0,0,2092,0,0 +17-43106581-T-G,17,43106581,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-48A>C,,c.135-48A>C,intron_variant,,,,1,625966,0.0000015975308563084897,0,0,,,2.83,,0.0200,-0.0300,0.253,,,0,11612,0,0,0,702,0,0,0,3958,0,0,0,2604,0,0,0,206,0,0,0,1238,0,0,1,572990,0,0,,,,,0,12124,0,0,0,20532,0,0 +17-43106583-G-C,17,43106583,rs1567812556,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-50C>G,,c.135-50C>G,intron_variant,,,,8,1219900,0.0000065579145831625545,0,0,nfe,0.00000381,4.15,,0.00,0.0200,-0.0110,,,0,27680,0,0,0,41982,0,0,0,24236,0,0,0,36928,0,0,0,51308,0,0,0,4104,0,0,8,904292,0,0,,,,,0,77460,0,0,0,51910,0,0 +17-43106584-A-G,17,43106584,rs2054802162,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-51T>C,,c.135-51T>C,intron_variant,,,,1,152234,0.0000065688348200796145,0,0,,,7.59,,0.00,-0.0400,0.987,,,1,41464,0,0,0,15274,0,0,0,3472,0,0,0,5204,0,0,0,10624,0,0,0,316,0,0,0,68038,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43106586-A-G,17,43106586,rs771398886,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-53T>C,,c.135-53T>C,intron_variant,,,,186,1361024,0.00013666180758017493,0,0,nfe,0.00015924,7.32,,0.00,-0.0500,1.28,,,2,68938,0,0,0,56980,0,0,0,27620,0,0,0,41928,0,0,0,61678,0,0,0,4360,0,0,175,963072,0,0,0,912,0,0,0,81926,0,0,9,53610,0,0 +17-43106590-T-C,17,43106590,rs1567812564,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-57A>G,,c.135-57A>G,intron_variant,,,,2,592894,0.000003373284263291583,0,0,eas,0.00000977,7.05,,0.00,0.0100,2.78,,,0,15936,0,0,0,40616,0,0,0,20222,0,0,2,33890,0,0,0,50550,0,0,0,2764,0,0,0,332720,0,0,,,,,0,64914,0,0,0,31282,0,0 +17-43106592-C-A,17,43106592,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-59G>T,,c.135-59G>T,intron_variant,,,,1,1138520,8.783332747777817e-7,0,0,,,1.49,,0.00,0.00,-0.461,,,0,25946,0,0,0,40682,0,0,0,23622,0,0,0,36058,0,0,0,50486,0,0,0,3822,0,0,1,833790,0,0,,,,,0,75070,0,0,0,49044,0,0 +17-43106592-C-T,17,43106592,rs1231289031,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-59G>A,,c.135-59G>A,intron_variant,,,,8,1290612,0.000006198609651855089,0,0,nfe,0.0000032300000000000004,1.95,,0.00,0.00,-0.461,,,0,67368,0,0,1,55936,0,0,0,27094,0,0,0,41258,0,0,0,61086,0,0,0,4138,0,0,7,901796,0,0,0,912,0,0,0,79890,0,0,0,51134,0,0 +17-43106593-T-C,17,43106593,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-60A>G,,c.135-60A>G,intron_variant,,,,3,541700,0.000005538120731031937,0,0,nfe,6.700000000000001e-7,12.1,,0.00,-0.0100,1.87,,,0,10020,0,0,0,580,0,0,0,3464,0,0,0,2290,0,0,0,186,0,0,0,1078,0,0,2,495900,0,0,,,,,1,10482,0,0,0,17700,0,0 +17-43106594-C-A,17,43106594,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-61G>T,,c.135-61G>T,intron_variant,,,,1,585818,0.000001707014806646433,0,0,,,8.02,,0.00,0.0100,2.40,,,0,15694,0,0,0,39666,0,0,0,20082,0,0,0,33538,0,0,0,49938,0,0,0,2702,0,0,1,329156,0,0,,,,,0,64066,0,0,0,30976,0,0 +17-43106601-C-A,17,43106601,rs1006091410,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-68G>T,,c.135-68G>T,intron_variant,,,,1,1037342,9.640022287731529e-7,0,0,,,6.48,,0.00,-0.0100,2.78,,,1,23858,0,0,0,38384,0,0,0,22806,0,0,0,35066,0,0,0,49178,0,0,0,3530,0,0,0,746896,0,0,,,,,0,71972,0,0,0,45652,0,0 +17-43106601-C-T,17,43106601,rs1006091410,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-68G>A,,c.135-68G>A,intron_variant,,,,7,1189428,0.000005885181784857932,0,0,nfe,0.00000265,7.09,,0.00,0.00,2.78,,,0,65282,0,0,0,53640,0,0,0,26276,0,0,0,40266,0,0,0,59770,0,0,1,3846,0,0,6,814896,0,0,0,912,0,0,0,76800,0,0,0,47740,0,0 +17-43106605-T-C,17,43106605,rs1229318009,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-72A>G,,c.135-72A>G,intron_variant,,,,4,723792,0.000005526449587726861,0,0,,,1.31,,0.00,0.0100,-3.11,,,0,56778,0,0,2,52578,0,0,0,23280,0,0,0,38094,0,0,0,59112,0,0,0,2886,0,0,1,390180,0,0,0,912,0,0,1,67492,0,0,0,32480,0,0 +17-43106606-A-G,17,43106606,rs2054803295,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-73T>C,,c.135-73T>C,intron_variant,,,,1,567528,0.0000017620276004003327,0,0,,,9.79,,0.00,-0.0300,1.74,,,1,15178,0,0,0,36476,0,0,0,19740,0,0,0,32736,0,0,0,48148,0,0,0,2534,0,0,0,320344,0,0,,,,,0,62150,0,0,0,30222,0,0 +17-43106608-C-G,17,43106608,rs1380870738,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-75G>C,,c.135-75G>C,intron_variant,,,,1,987688,0.000001012465474927305,0,0,,,2.38,,0.00,0.00,1.53,,,0,22802,0,0,0,36626,0,0,0,22334,0,0,0,34434,0,0,0,48018,0,0,1,3386,0,0,0,706246,0,0,,,,,0,69996,0,0,0,43846,0,0 +17-43106608-C-T,17,43106608,rs1380870738,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-75G>A,,c.135-75G>A,intron_variant,,,,2,1139736,0.000001754792337874736,0,0,,,2.83,,0.00,0.0100,1.53,,,0,64210,0,0,0,51890,0,0,0,25800,0,0,0,39634,0,0,0,58598,0,0,0,3702,0,0,2,774232,0,0,0,912,0,0,0,74822,0,0,0,45936,0,0 +17-43110464-C-T,17,43110464,rs558127058,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3931G>A,,c.135-3931G>A,intron_variant,,,,4,353670,0.00001130997822829191,0,0,eas,0.0001065099999999999,6.68,,0.00,0.00,-1.83,,,0,46586,0,0,0,28168,0,0,0,9316,0,0,4,12798,0,0,0,19296,0,0,0,1038,0,0,0,177340,0,0,0,910,0,0,0,46838,0,0,0,11380,0,0 +17-43110466-G-A,17,43110466,rs1207591662,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3933C>T,,c.135-3933C>T,intron_variant,,,,1,151818,0.000006586834235729624,0,0,,,0.596,,0.00,0.00,0.545,,,0,41314,0,0,0,15186,0,0,0,3472,0,0,0,5176,0,0,0,10554,0,0,0,316,0,0,1,67988,0,0,0,908,0,0,0,4820,0,0,0,2084,0,0 +17-43110467-T-G,17,43110467,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3934A>C,,c.135-3934A>C,intron_variant,,,,2,210054,0.000009521361173793405,1,0,sas,0.00000763,2.32,,0.00,0.00,-0.431,,,0,5314,0,0,0,13590,0,0,0,6272,0,0,0,7768,0,0,0,8938,0,0,0,804,0,0,0,114338,0,0,,,,,2,43442,1,0,0,9588,0,0 +17-43110468-C-T,17,43110468,rs1460648856,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3935G>A,,c.135-3935G>A,intron_variant,,,,2,210274,0.000009511399412195516,0,0,,,4.49,,0.310,0.260,0.550,,,0,5322,0,0,0,13728,0,0,0,6312,0,0,0,7750,0,0,0,9024,0,0,0,798,0,0,1,114300,0,0,,,,,0,43432,0,0,1,9608,0,0 +17-43110469-C-A,17,43110469,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3936G>T,,c.135-3936G>T,intron_variant,,,,1,208140,0.000004804458537522821,0,0,,,1.57,,0.170,0.110,0.550,,,0,5232,0,0,0,13580,0,0,0,6284,0,0,0,7666,0,0,0,8990,0,0,0,800,0,0,0,113004,0,0,,,,,1,43106,0,0,0,9478,0,0 +17-43110472-G-C,17,43110472,rs2054985207,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3939C>G,,c.135-3939C>G,intron_variant,,,,1,151804,0.000006587441701140945,0,0,,,2.28,,0.0500,0.120,0.545,,,0,41314,0,0,0,15186,0,0,0,3468,0,0,0,5164,0,0,0,10558,0,0,0,316,0,0,1,67992,0,0,0,910,0,0,0,4812,0,0,0,2084,0,0 +17-43110473-C-G,17,43110473,rs950388086,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3940G>C,,c.135-3940G>C,intron_variant,,,,3,151706,0.000019775091295004813,0,0,afr,0.00001927,1.55,,0.130,0.170,0.550,,,3,41276,0,0,0,15198,0,0,0,3470,0,0,0,5158,0,0,0,10496,0,0,0,316,0,0,0,67982,0,0,0,910,0,0,0,4818,0,0,0,2082,0,0 +17-43110474-T-C,17,43110474,rs2054985486,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3941A>G,,c.135-3941A>G,intron_variant,,,,1,151618,0.00000659552295901542,0,0,,,2.19,,0.0600,0.0700,0.430,,,0,41246,0,0,0,15190,0,0,0,3470,0,0,0,5136,0,0,0,10482,0,0,0,316,0,0,0,67970,0,0,0,910,0,0,1,4818,0,0,0,2080,0,0 +17-43110477-TTGGGAGACTGAGG-T,17,43110477,,TTGGGAGACTGAGG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3957_135-3945del,,c.135-3957_135-3945del,intron_variant,,,,1,219646,0.000004552780382979886,0,0,,,0.700,,0.00,0.0700,0.430,,,0,5462,0,0,0,14720,0,0,0,6932,0,0,0,7824,0,0,0,9382,0,0,0,898,0,0,1,118942,0,0,,,,,0,45560,0,0,0,9926,0,0 +17-43110477-T-C,17,43110477,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3944A>G,,c.135-3944A>G,intron_variant,,,,1,219646,0.000004552780382979886,0,0,,,2.90,,0.0300,0.0800,0.430,,,0,5462,0,0,0,14720,0,0,0,6932,0,0,0,7824,0,0,0,9382,0,0,0,898,0,0,1,118942,0,0,,,,,0,45560,0,0,0,9926,0,0 +17-43110478-T-C,17,43110478,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3945A>G,,c.135-3945A>G,intron_variant,,,,1,219388,0.000004558134446733641,0,0,,,1.23,,0.100,0.0800,0.430,,,0,5460,0,0,0,14812,0,0,0,6930,0,0,0,7828,0,0,1,9380,0,0,0,892,0,0,0,118696,0,0,,,,,0,45458,0,0,0,9932,0,0 +17-43110486-TG-T,17,43110486,,TG,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3954del,,c.135-3954del,intron_variant,,,,1,151502,0.0000066005729297303,0,0,,,1.17,,0.00,0.00,0.430,,,0,41250,0,0,0,15140,0,0,0,3468,0,0,0,5128,0,0,0,10468,0,0,0,294,0,0,0,67944,0,0,0,910,0,0,1,4804,0,0,0,2096,0,0 +17-43110487-G-C,17,43110487,rs1162955306,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3954C>G,,c.135-3954C>G,intron_variant,,,,2,151792,0.000013175924949931485,0,0,afr,0.00000802,0.709,,0.0200,0.0300,0.545,,,2,41316,0,0,0,15210,0,0,0,3472,0,0,0,5162,0,0,0,10516,0,0,0,316,0,0,0,67986,0,0,0,912,0,0,0,4816,0,0,0,2086,0,0 +17-43110494-T-C,17,43110494,rs987921818,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3961A>G,,c.135-3961A>G,intron_variant,,,,2,150532,0.000013286211569633035,0,0,afr,0.000007050000000000001,0.712,,0.0600,0.0600,-1.97,,,2,40812,0,0,0,15034,0,0,0,3462,0,0,0,5062,0,0,0,10350,0,0,0,316,0,0,0,67756,0,0,0,906,0,0,0,4780,0,0,0,2054,0,0 +17-43110496-G-T,17,43110496,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3963C>A,,c.135-3963C>A,intron_variant,,,,1,249446,0.000004008883686248727,0,0,,,0.384,,0.0100,0.00,-1.00,,,0,6398,0,0,0,19088,0,0,0,8468,0,0,0,8272,0,0,0,10388,0,0,0,1242,0,0,0,133188,0,0,,,,,1,51122,0,0,0,11280,0,0 +17-43110499-T-C,17,43110499,rs1390752017,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3966A>G,,c.135-3966A>G,intron_variant,,,,2,403662,0.000004954640268343317,0,0,,,2.49,,0.00,0.00,-0.265,,,0,47530,0,0,0,34632,0,0,0,12112,0,0,0,13430,0,0,0,20862,0,0,0,1588,0,0,2,202482,0,0,0,904,0,0,0,56664,0,0,0,13458,0,0 +17-43110500-C-T,17,43110500,rs1304730071,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3967G>A,,c.135-3967G>A,intron_variant,,,,2,404520,0.000004944131316127757,0,0,,,0.438,,0.00,0.00,-0.894,,,1,47720,0,0,0,34900,0,0,0,12102,0,0,0,13500,0,0,0,20968,0,0,0,1596,0,0,1,202632,0,0,0,910,0,0,0,56642,0,0,0,13550,0,0 +17-43110501-G-A,17,43110501,rs762709502,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3968C>T,,c.135-3968C>T,intron_variant,,,,7,403278,0.000017357753212424184,0,0,nfe,0.00001266,0.235,,0.00,0.00,-0.164,,,0,47548,0,0,0,34622,0,0,0,12182,0,0,0,13370,0,0,0,20914,0,0,0,1604,0,0,6,202062,0,0,0,900,0,0,0,56598,0,0,1,13478,0,0 +17-43110505-G-T,17,43110505,rs1292416073,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3972C>A,,c.135-3972C>A,intron_variant,,,,3,268756,0.000011162541487445861,0,0,nfe,0.00000566,1.29,,0.00,0.00,0.335,,,0,7382,0,0,0,22906,0,0,0,9494,0,0,0,8510,0,0,0,11102,0,0,0,1432,0,0,3,140944,0,0,,,,,0,54756,0,0,0,12230,0,0 +17-43110508-C-T,17,43110508,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3975G>A,,c.135-3975G>A,intron_variant,,,,1,278098,0.0000035958546987033346,0,0,,,2.14,,0.130,0.120,0.338,,,0,7660,0,0,0,24154,0,0,0,9812,0,0,0,8688,0,0,0,11414,0,0,0,1476,0,0,0,146018,0,0,,,,,1,56188,0,0,0,12688,0,0 +17-43110511-A-G,17,43110511,rs1393604714,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3978T>C,,c.135-3978T>C,intron_variant,,,,1,151584,0.0000065970023221448175,0,0,,,1.06,,0.120,0.0900,-0.583,,,0,41252,0,0,0,15198,0,0,0,3466,0,0,0,5130,0,0,0,10548,0,0,0,316,0,0,1,67900,0,0,0,910,0,0,0,4798,0,0,0,2066,0,0 +17-43110516-G-A,17,43110516,rs1334524607,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3983C>T,,c.135-3983C>T,intron_variant,,,,3,437164,0.00000686241319047314,0,0,nfe,0.0000036700000000000004,0.426,,0.00,0.0100,0.335,,,0,49098,0,0,0,40496,0,0,0,13664,0,0,0,13968,0,0,0,22054,0,0,0,1974,0,0,3,217498,0,0,0,910,0,0,0,62332,0,0,0,15170,0,0 +17-43110517-T-C,17,43110517,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3984A>G,,c.135-3984A>G,intron_variant,,,,1,280964,0.000003559174840904885,0,0,,,2.00,,0.00,0.00,-0.722,,,0,7798,0,0,0,24424,0,0,0,10050,0,0,0,8664,0,0,0,11460,0,0,0,1590,0,0,1,147118,0,0,,,,,0,57036,0,0,0,12824,0,0 +17-43110518-C-A,17,43110518,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3985G>T,,c.135-3985G>T,intron_variant,,,,1,281892,0.000003547457891674826,0,0,,,0.550,,0.00,0.0800,0.338,,,0,7866,0,0,0,25144,0,0,0,10072,0,0,0,8620,0,0,0,11534,0,0,0,1614,0,0,0,147296,0,0,,,,,0,56846,0,0,1,12900,0,0 +17-43110518-C-T,17,43110518,rs1212047072,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3985G>A,,c.135-3985G>A,intron_variant,,,,1,281892,0.000003547457891674826,0,0,,,0.711,,0.00,0.00,0.338,,,0,7866,0,0,0,25144,0,0,0,10072,0,0,1,8620,0,0,0,11534,0,0,0,1614,0,0,0,147296,0,0,,,,,0,56846,0,0,0,12900,0,0 +17-43110519-AAGGCAAC-A,17,43110519,,AAGGCAAC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3993_135-3987del,,c.135-3993_135-3987del,intron_variant,,,,1,286944,0.0000034850005576000893,0,0,,,0.443,,0.00,0.0200,0.269,,,0,8050,0,0,0,25550,0,0,0,10232,0,0,0,8814,0,0,1,11714,0,0,0,1678,0,0,0,150024,0,0,,,,,0,57698,0,0,0,13184,0,0 +17-43110519-A-C,17,43110519,rs761454371,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3986T>G,,c.135-3986T>G,intron_variant,,,,5,438748,0.00001139606334387849,0,0,eas,0.00014028999999999992,0.677,,0.00,0.130,0.269,,,0,49358,0,0,0,40772,0,0,0,13702,0,0,5,13986,0,0,0,22308,0,0,0,1994,0,0,0,217958,0,0,0,912,0,0,0,62504,0,0,0,15254,0,0 +17-43110520-A-G,17,43110520,rs573182674,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-3987T>C,,c.135-3987T>C,intron_variant,,,,2,152018,0.000013156336749595442,0,0,afr,0.000006690000000000001,1.81,,0.00,0.00,0.269,,,2,41464,0,0,0,15256,0,0,0,3472,0,0,0,5162,0,0,0,10586,0,0,0,294,0,0,0,67974,0,0,0,912,0,0,0,4804,0,0,0,2094,0,0 +17-43110522-G-A,17,43110522,rs1480963881,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3989C>T,,c.135-3989C>T,intron_variant,,,,1,287330,0.0000034803187972018237,0,0,,,0.722,,0.00,0.0200,0.335,,,0,8018,0,0,0,25366,0,0,0,10284,0,0,0,8834,0,0,0,11750,0,0,0,1682,0,0,0,150414,0,0,,,,,1,57786,0,0,0,13196,0,0 +17-43110525-A-C,17,43110525,rs1024069027,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3992T>G,,c.135-3992T>G,intron_variant,,,,17,441350,0.000038518182848079755,0,0,amr,0.00022487999999999997,0.738,,0.00,0.0200,0.269,,,1,49402,0,0,15,40956,0,0,0,13786,0,0,0,14056,0,0,0,22450,0,0,0,2078,0,0,0,219476,0,0,0,910,0,0,0,62824,0,0,1,15412,0,0 +17-43110527-A-T,17,43110527,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3994T>A,,c.135-3994T>A,intron_variant,,,,1,292830,0.00000341495065396305,0,0,,,1.03,,0.00,0.0400,0.269,,,0,8218,0,0,0,25986,0,0,0,10420,0,0,0,8992,0,0,1,11954,0,0,0,1794,0,0,0,153422,0,0,,,,,0,58540,0,0,0,13504,0,0 +17-43110527-A-G,17,43110527,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-3994T>C,,c.135-3994T>C,intron_variant,,,,1,292830,0.00000341495065396305,0,0,,,1.12,,0.00,0.100,0.269,,,0,8218,0,0,0,25986,0,0,0,10420,0,0,0,8992,0,0,0,11954,0,0,0,1794,0,0,0,153422,0,0,,,,,1,58540,0,0,0,13504,0,0 +17-43110531-A-G,17,43110531,rs1832659704,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3998T>C,,c.135-3998T>C,intron_variant,,,,4,444618,0.000008996486871876531,0,0,sas,0.00002074,1.14,,0.0500,0.120,0.269,,,0,49550,0,0,0,41182,0,0,0,13890,0,0,0,14170,0,0,0,22532,0,0,0,2142,0,0,0,221338,0,0,0,912,0,0,4,63310,0,0,0,15592,0,0 +17-43110532-G-A,17,43110532,rs75129942,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-3999C>T,,c.135-3999C>T,intron_variant,Benign,209510,,8645,441038,0.019601485586276012,148,0,nfe,0.026015990000000003,0.752,,0.00,0.00,0.335,,,212,49126,0,0,608,40788,5,0,233,13824,4,0,1,14052,0,0,713,21996,13,0,5,1974,0,0,5846,219894,103,0,26,912,0,0,696,63028,18,0,305,15444,5,0 +17-43110533-C-T,17,43110533,rs1426038852,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4000G>A,,c.135-4000G>A,intron_variant,,,,5,443358,0.000011277568015012698,0,0,nfe,0.00000863,1.78,,0.0500,0.0500,0.338,,,0,49406,0,0,0,40982,0,0,0,13862,0,0,0,14148,0,0,0,22370,0,0,0,2128,0,0,5,220832,0,0,0,908,0,0,0,63204,0,0,0,15518,0,0 +17-43110534-C-T,17,43110534,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4001G>A,,c.135-4001G>A,intron_variant,,,,1,291556,0.0000034298728203158226,0,0,,,2.20,,0.140,0.150,0.338,,,0,8168,0,0,0,25718,0,0,0,10396,0,0,0,8986,0,0,0,11916,0,0,0,1862,0,0,1,152702,0,0,,,,,0,58384,0,0,0,13424,0,0 +17-43110536-C-G,17,43110536,rs1170377609,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4003G>C,,c.135-4003G>C,intron_variant,,,,1,150252,0.000006655485451108804,0,0,,,0.438,,0.0400,0.0600,0.338,,,0,40746,0,0,0,14996,0,0,0,3462,0,0,0,5106,0,0,0,10120,0,0,0,312,0,0,1,67762,0,0,0,908,0,0,0,4786,0,0,0,2054,0,0 +17-43110537-A-G,17,43110537,rs1406251398,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4004T>C,,c.135-4004T>C,intron_variant,,,,1,151660,0.000006593696426216537,0,0,,,0.365,,0.0300,0.0600,-1.85,,,0,41280,0,0,0,15182,0,0,0,3468,0,0,0,5142,0,0,0,10544,0,0,0,316,0,0,1,67932,0,0,0,912,0,0,0,4812,0,0,0,2072,0,0 +17-43110538-T-C,17,43110538,rs1188757973,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4005A>G,,c.135-4005A>G,intron_variant,,,,2,292394,0.000006840085637872186,0,0,,,0.539,,0.0400,0.0900,0.270,,,1,8184,0,0,0,25952,0,0,0,10400,0,0,0,8976,0,0,0,11926,0,0,0,1868,0,0,1,153096,0,0,,,,,0,58498,0,0,0,13494,0,0 +17-43110540-A-G,17,43110540,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4007T>C,,c.135-4007T>C,intron_variant,,,,1,292686,0.0000034166307920433502,0,0,,,2.63,,0.0200,0.0400,0.269,,,0,8170,0,0,0,25950,0,0,0,10408,0,0,0,8990,0,0,0,11938,0,0,0,1886,0,0,1,153342,0,0,,,,,0,58498,0,0,0,13504,0,0 +17-43110541-T-G,17,43110541,rs2054988724,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4008A>C,,c.135-4008A>C,intron_variant,,,,1,150260,0.00000665513110608279,0,0,,,1.21,,0.00,0.00,0.270,,,0,40704,0,0,0,14986,0,0,0,3470,0,0,0,5104,0,0,0,10114,0,0,0,314,0,0,0,67832,0,0,0,910,0,0,1,4774,0,0,0,2052,0,0 +17-43110542-C-A,17,43110542,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4009G>T,,c.135-4009G>T,intron_variant,,,,1,290968,0.000003436804047180446,0,0,,,0.512,,0.00,0.00,-0.554,,,0,8090,0,0,0,25778,0,0,0,10354,0,0,0,8968,0,0,0,11872,0,0,0,1902,0,0,1,152308,0,0,,,,,0,58280,0,0,0,13416,0,0 +17-43110542-C-T,17,43110542,rs1416407027,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4009G>A,,c.135-4009G>A,intron_variant,,,,2,441440,0.0000045306270387821675,0,0,,,0.550,,0.00,0.00,-0.554,,,2,48908,0,0,0,40832,0,0,0,13826,0,0,0,14082,0,0,0,21996,0,0,0,2218,0,0,0,220116,0,0,0,908,0,0,0,63082,0,0,0,15472,0,0 +17-43110543-G-A,17,43110543,rs2054988998,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4010C>T,,c.135-4010C>T,intron_variant,,,,3,437950,0.000006850097043041443,0,0,sas,0.0000127,0.131,,0.00,0.00,-0.660,,,0,48458,0,0,0,40406,0,0,0,13782,0,0,0,13896,0,0,0,21460,0,0,0,2054,0,0,0,218948,0,0,0,910,0,0,3,62714,0,0,0,15322,0,0 +17-43110543-G-C,17,43110543,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4010C>G,,c.135-4010C>G,intron_variant,,,,1,288674,0.0000034641152303290215,0,0,,,0.181,,0.00,0.00,-0.660,,,0,7996,0,0,0,25516,0,0,0,10314,0,0,0,8854,0,0,0,11762,0,0,1,1762,0,0,0,151254,0,0,,,,,0,57956,0,0,0,13260,0,0 +17-43110544-C-T,17,43110544,rs1379093422,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4011G>A,,c.135-4011G>A,intron_variant,,,,1,150106,0.000006661958882389778,0,0,,,0.120,,0.00,0.0400,-0.557,,,1,40662,0,0,0,15030,0,0,0,3470,0,0,0,5114,0,0,0,9988,0,0,0,314,0,0,0,67794,0,0,0,908,0,0,0,4770,0,0,0,2056,0,0 +17-43110545-A-G,17,43110545,rs1417571698,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4012T>C,,c.135-4012T>C,intron_variant,,,,1,292172,0.0000034226414577714496,0,0,,,0.558,,0.0300,0.0800,0.269,,,0,8148,0,0,1,25860,0,0,0,10394,0,0,0,8972,0,0,0,11918,0,0,0,1740,0,0,0,153216,0,0,,,,,0,58464,0,0,0,13460,0,0 +17-43110548-A-G,17,43110548,rs754146940,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4015T>C,,c.135-4015T>C,intron_variant,,,,1,292504,0.0000034187566665755,0,0,,,3.35,,0.120,0.180,0.269,,,0,8134,0,0,0,25838,0,0,0,10372,0,0,0,8980,0,0,0,11926,0,0,0,1778,0,0,0,153504,0,0,,,,,1,58492,0,0,0,13480,0,0 +17-43110550-T-G,17,43110550,rs755342376,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4017A>C,,c.135-4017A>C,intron_variant,,,,5,292332,0.000017103840838498694,0,0,sas,0.000022940000000000004,1.55,,0.140,0.150,-0.726,,,0,8104,0,0,0,25656,0,0,0,10380,0,0,0,8978,0,0,0,11930,0,0,0,1982,0,0,1,153292,0,0,,,,,4,58518,0,0,0,13492,0,0 +17-43110551-G-A,17,43110551,rs2054989633,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4018C>T,,c.135-4018C>T,intron_variant,,,,1,148812,0.000006719888181060667,0,0,,,2.38,,0.00,0.00,0.335,,,0,40260,0,0,0,14744,0,0,0,3444,0,0,0,5044,0,0,0,9680,0,0,0,314,0,0,0,67626,0,0,0,912,0,0,1,4764,0,0,0,2024,0,0 +17-43110554-CTCCAG-C,17,43110554,rs1400429598,CTCCAG,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4026_135-4022del,,c.135-4026_135-4022del,intron_variant,,,,1,291952,0.0000034252205842056227,0,0,,,0.485,,0.0400,0.0200,0.338,,,0,8084,0,0,0,25682,0,0,0,10330,0,0,0,8982,0,0,0,11908,0,0,0,2054,0,0,1,153020,0,0,,,,,0,58430,0,0,0,13462,0,0 +17-43110556-C-A,17,43110556,rs1460999385,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4023G>T,,c.135-4023G>T,intron_variant,,,,1,291002,0.000003436402498951897,0,0,,,1.79,,0.00,0.00,0.338,,,0,8028,0,0,0,25488,0,0,0,10322,0,0,0,8946,0,0,0,11906,0,0,0,2122,0,0,1,152494,0,0,,,,,0,58268,0,0,0,13428,0,0 +17-43110558-A-G,17,43110558,rs2054990175,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4025T>C,,c.135-4025T>C,intron_variant,,,,1,151718,0.000006591175733927418,0,0,,,2.09,,0.0200,0.0400,0.269,,,0,41270,0,0,1,15186,0,0,0,3464,0,0,0,5156,0,0,0,10580,0,0,0,314,0,0,0,67950,0,0,0,910,0,0,0,4810,0,0,0,2078,0,0 +17-43110560-C-T,17,43110560,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4027G>A,,c.135-4027G>A,intron_variant,,,,1,289742,0.0000034513463702190226,0,0,,,0.574,,0.00,0.0100,0.338,,,0,7976,0,0,0,25284,0,0,0,10276,0,0,0,8934,0,0,0,11850,0,0,0,2026,0,0,1,151878,0,0,,,,,0,58134,0,0,0,13384,0,0 +17-43110561-T-C,17,43110561,rs1240726579,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4028A>G,,c.135-4028A>G,intron_variant,,,,1,148234,0.000006746090640473845,0,0,,,1.00,,0.0400,0.0600,0.270,,,1,39936,0,0,0,14654,0,0,0,3454,0,0,0,5072,0,0,0,9718,0,0,0,312,0,0,0,67470,0,0,0,902,0,0,0,4702,0,0,0,2014,0,0 +17-43110562-G-A,17,43110562,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4029C>T,,c.135-4029C>T,intron_variant,,,,2,289946,0.000006897836148800121,0,0,,,0.871,,0.00,0.00,-0.730,,,0,7942,0,0,0,25160,0,0,0,10280,0,0,0,8888,0,0,0,11854,0,0,0,2168,0,0,1,152132,0,0,,,,,1,58152,0,0,0,13370,0,0 +17-43110567-A-G,17,43110567,rs1295927249,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4034T>C,,c.135-4034T>C,intron_variant,,,,1,151816,0.000006586921009643253,0,0,,,2.43,,0.0800,0.100,-0.732,,,0,41296,0,0,1,15204,0,0,0,3472,0,0,0,5172,0,0,0,10586,0,0,0,316,0,0,0,67968,0,0,0,912,0,0,0,4814,0,0,0,2076,0,0 +17-43110572-A-G,17,43110572,rs1567814833,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4039T>C,,c.135-4039T>C,intron_variant,,,,1,276970,0.0000036104993320576238,0,0,,,2.43,,0.0500,0.0600,-0.731,,,0,6944,0,0,0,21472,0,0,0,9702,0,0,0,8810,0,0,0,11458,0,0,0,2164,0,0,1,147664,0,0,,,,,0,56102,0,0,0,12654,0,0 +17-43110572-AG-A,17,43110572,rs1302455761,AG,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4040del,,c.135-4040del,intron_variant,,,,11,428030,0.000025699133238324415,0,0,afr,0.00008228999999999997,0.711,,0.120,0.0300,-0.731,,,8,48072,0,0,1,36560,0,0,0,13160,0,0,0,13938,0,0,0,21842,0,0,1,2458,0,0,0,215470,0,0,0,910,0,0,0,60878,0,0,1,14742,0,0 +17-43110576-A-T,17,43110576,rs1250622169,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4043T>A,,c.135-4043T>A,intron_variant,,,,2,273834,0.000007303694939269776,0,0,nfe,0.000006349999999999999,0.796,,0.00,0.0400,0.269,,,0,6752,0,0,0,20400,0,0,0,9526,0,0,0,8806,0,0,0,11394,0,0,0,2276,0,0,2,146904,0,0,,,,,0,55264,0,0,0,12512,0,0 +17-43110578-AC-A,17,43110578,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4046del,,c.135-4046del,intron_variant,,,,1,262126,0.0000038149592180859586,0,0,,,1.55,,0.350,0.150,0.269,,,0,6306,0,0,0,18768,0,0,0,8968,0,0,0,8616,0,0,0,10934,0,0,0,2042,0,0,1,141526,0,0,,,,,0,52988,0,0,0,11978,0,0 +17-43110579-C-A,17,43110579,rs1396533515,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4046G>T,,c.135-4046G>T,intron_variant,,,,1,261974,0.000003817172696527136,0,0,,,1.67,,0.150,0.170,0.338,,,0,6226,0,0,0,18608,0,0,0,8964,0,0,0,8612,0,0,0,11010,0,0,0,2200,0,0,1,141526,0,0,,,,,0,52776,0,0,0,12052,0,0 +17-43110580-CCT-C,17,43110580,rs1222207844,CCT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4049_135-4048del,,c.135-4049_135-4048del,intron_variant,,,,17,406756,0.000041794097690015636,0,0,nfe,0.00005213,5.89,,0.00,0.0200,-0.575,,,0,46734,0,0,0,33362,0,0,0,12214,0,0,0,13632,0,0,0,20674,0,0,0,2504,0,0,17,206258,0,0,0,910,0,0,0,56572,0,0,0,13896,0,0 +17-43110580-C-A,17,43110580,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4047G>T,,c.135-4047G>T,intron_variant,,,,1,257088,0.000003889718695543938,0,0,,,0.945,,0.0100,0.0100,-0.575,,,0,6068,0,0,0,18286,0,0,0,8746,0,0,0,8496,0,0,0,10846,0,0,0,2192,0,0,1,138804,0,0,,,,,0,51802,0,0,0,11848,0,0 +17-43110580-C-T,17,43110580,rs1567814844,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4047G>A,,c.135-4047G>A,intron_variant,,,,2,257082,0.00000777961895426362,0,0,nfe,0.00000161,0.675,,0.00,0.00,-0.575,,,0,6068,0,0,0,18286,0,0,0,8746,0,0,0,8496,0,0,0,10846,0,0,0,2192,0,0,2,138800,0,0,,,,,0,51800,0,0,0,11848,0,0 +17-43110581-C-T,17,43110581,rs765623980,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4048G>A,,c.135-4048G>A,intron_variant,,,,2,399404,0.000005007461117064426,0,0,,,4.41,,0.0400,0.0300,-1.65,,,0,46044,0,0,0,32252,0,0,0,11844,0,0,0,13500,0,0,0,20092,0,0,0,2502,0,0,2,203308,0,0,0,910,0,0,0,55366,0,0,0,13586,0,0 +17-43110581-C-A,17,43110581,rs765623980,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4048G>T,,c.135-4048G>T,intron_variant,,,,4,251136,0.000015927624872579002,0,0,sas,0.000014379999999999998,3.97,,0.00,0.0100,-1.65,,,1,5886,0,0,0,17350,0,0,0,8388,0,0,0,8402,0,0,0,10666,0,0,0,2192,0,0,0,136066,0,0,,,,,3,50630,0,0,0,11556,0,0 +17-43110582-T-G,17,43110582,rs927106107,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4049A>C,,c.135-4049A>C,intron_variant,,,,1,148850,0.000006718172657037286,0,0,,,5.44,,0.0100,0.0100,0.270,,,1,40386,0,0,0,15002,0,0,0,3454,0,0,0,5122,0,0,0,9572,0,0,0,312,0,0,0,67304,0,0,0,904,0,0,0,4754,0,0,0,2040,0,0 +17-43110584-T-A,17,43110584,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4051A>T,,c.135-4051A>T,intron_variant,,,,1,240068,0.000004165486445507106,0,0,,,4.34,,0.00,0.00,-0.724,,,0,5676,0,0,0,16446,0,0,1,7562,0,0,0,8254,0,0,0,10254,0,0,0,2048,0,0,0,130976,0,0,,,,,0,47684,0,0,0,11168,0,0 +17-43110585-C-T,17,43110585,,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4052G>A,,c.135-4052G>A,intron_variant,,,,1,144758,0.000006908081073239476,0,0,,,1.36,,0.200,0.260,0.338,,,0,38966,0,0,0,14500,0,0,0,3424,0,0,1,5008,0,0,0,8676,0,0,0,306,0,0,0,66362,0,0,0,892,0,0,0,4642,0,0,0,1982,0,0 +17-43110586-T-TAA,17,43110586,,T,TAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4054_135-4053insTT,,c.135-4054_135-4053insTT,intron_variant,,,,1,211588,0.000004726165945138665,0,0,,,0.410,,0.0900,0.120,0.270,,,0,4992,0,0,0,14142,0,0,0,6270,0,0,0,7368,0,0,0,9154,0,0,0,1724,0,0,0,116174,0,0,,,,,0,41964,0,0,1,9800,0,0 +17-43110586-T-A,17,43110586,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4053A>T,,c.135-4053A>T,intron_variant,,,,1,211632,0.00000472518333711348,0,0,,,2.46,,0.190,0.250,0.270,,,1,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9154,0,0,0,1724,0,0,0,116190,0,0,,,,,0,41972,0,0,0,9802,0,0 +17-43110586-T-C,17,43110586,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4053A>G,,c.135-4053A>G,intron_variant,,,,2,211626,0.00000945063461011407,0,0,nfe,0.0000028600000000000006,1.75,,0.00,0.0200,0.270,,,0,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9156,0,0,0,1724,0,0,2,116182,0,0,,,,,0,41972,0,0,0,9802,0,0 +17-43110586-TCAA-T,17,43110586,,TCAA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4056_135-4054del,,c.135-4056_135-4054del,intron_variant,,,,1,211636,0.000004725094029371184,0,0,,,1.43,,0.170,0.250,0.270,,,0,4994,0,0,0,14144,0,0,0,6272,0,0,0,7380,0,0,0,9156,0,0,0,1724,0,0,1,116190,0,0,,,,,0,41974,0,0,0,9802,0,0 +17-43110586-TCA-T,17,43110586,,TCA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055_135-4054del,,c.135-4055_135-4054del,intron_variant,,,,3,211622,0.000014176219863719273,0,0,,,1.30,,0.140,0.250,0.270,,,0,4994,0,0,0,14142,0,0,0,6272,0,0,0,7378,0,0,0,9156,0,0,0,1724,0,0,1,116186,0,0,,,,,1,41968,0,0,1,9802,0,0 +17-43110587-C-CAAAAA,17,43110587,,C,CAAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4059_135-4055dup,,c.135-4059_135-4055dup,intron_variant,,,,2,169970,0.000011766782373360005,0,0,,,0.984,,0.00,0.0100,0.338,,,0,4272,0,0,0,11404,0,0,0,4366,0,0,1,6382,0,0,1,7144,0,0,0,1268,0,0,0,92522,0,0,,,,,0,34756,0,0,0,7856,0,0 +17-43110587-CAAA-C,17,43110587,rs201518255,CAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4057_135-4055del,,c.135-4057_135-4055del,intron_variant,,,,5745,265318,0.021653261369375617,0,0,sas,0.03083815000000002,1.15,,0.00,0.0200,0.338,,,132,31514,0,0,329,20388,0,0,143,6670,0,0,214,9748,0,0,272,12444,0,0,21,1416,0,0,3200,136972,0,0,0,644,0,0,1185,36608,0,0,249,8914,0,0 +17-43110587-CA-C,17,43110587,rs201518255,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055del,,c.135-4055del,intron_variant,,,,38611,166276,0.23221030094541606,0,0,sas,0.20645028,0.874,,0.00,0.0100,0.338,,,1010,4170,0,0,2684,11004,0,0,941,4288,0,0,1493,6244,0,0,1593,7020,0,0,270,1240,0,0,21033,90664,0,0,,,,,7810,33968,0,0,1777,7678,0,0 +17-43110587-C-CAAAA,17,43110587,,C,CAAAA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4058_135-4055dup,,c.135-4058_135-4055dup,intron_variant,,,,21,169946,0.00012356866298706648,0,0,nfe,0.00009057,1.00,,0.00,0.00,0.338,,,1,4272,0,0,1,11406,0,0,0,4366,0,0,1,6382,0,0,0,7146,0,0,0,1268,0,0,14,92510,0,0,,,,,2,34746,0,0,2,7850,0,0 +17-43110587-CAAAAAA-C,17,43110587,,CAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4060_135-4055del,,c.135-4060_135-4055del,intron_variant,,,,69,169778,0.00040641308061115106,0,0,nfe,0.00034534000000000013,1.09,,0.00,0.00,0.338,,,1,4266,0,0,2,11398,0,0,1,4360,0,0,2,6376,0,0,3,7140,0,0,0,1268,0,0,42,92414,0,0,,,,,16,34710,0,0,2,7846,0,0 +17-43110587-C-CA,17,43110587,rs201518255,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4055dup,,c.135-4055dup,intron_variant,,,,11115,270794,0.04104596113650967,4,0,sas,0.054287270000000006,1.07,,0.00,0.00,0.338,,,499,31624,1,0,735,20806,0,0,267,6824,0,0,450,9940,1,0,432,12640,0,0,59,1440,1,0,6050,139838,1,0,0,642,0,0,2131,37866,0,0,492,9174,0,0 +17-43110587-C-A,17,43110587,rs1245029938,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4054G>T,,c.135-4054G>T,intron_variant,,,,166,169936,0.0009768383391394408,0,0,amr,0.0010349199999999982,1.69,,0.270,0.240,0.338,,,6,4272,0,0,17,11406,0,0,6,4364,0,0,8,6376,0,0,7,7146,0,0,1,1268,0,0,83,92500,0,0,,,,,30,34750,0,0,8,7854,0,0 +17-43110587-CAAAAA-C,17,43110587,,CAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4059_135-4055del,,c.135-4059_135-4055del,intron_variant,,,,440,168730,0.00260771647010016,0,0,sas,0.00174154,1.05,,0.00,0.00,0.338,,,5,4254,0,0,15,11322,0,0,11,4338,0,0,15,6348,0,0,20,7078,0,0,1,1264,0,0,269,91826,0,0,,,,,80,34494,0,0,24,7806,0,0 +17-43110587-C-CAA,17,43110587,rs201518255,C,CAA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4056_135-4055dup,,c.135-4056_135-4055dup,intron_variant,,,,986,271218,0.0036354519242823118,0,0,sas,0.004775410000000001,1.05,,0.00,0.00,0.338,,,23,31680,0,0,59,20832,0,0,15,6844,0,0,40,9962,0,0,40,12682,0,0,4,1440,0,0,551,140042,0,0,0,644,0,0,204,37916,0,0,50,9176,0,0 +17-43110587-CAAAAAAAA-C,17,43110587,rs201518255,CAAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4062_135-4055del,,c.135-4062_135-4055del,intron_variant,,,,1,169974,0.000005883252732770894,0,0,,,1.13,,0.00,0.00,0.338,,,0,4272,0,0,0,11406,0,0,0,4366,0,0,0,6382,0,0,0,7146,0,0,0,1268,0,0,1,92522,0,0,,,,,0,34756,0,0,0,7856,0,0 +17-43110587-CAA-C,17,43110587,rs201518255,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4056_135-4055del,,c.135-4056_135-4055del,intron_variant,,,,14408,262892,0.05480577575582368,0,0,sas,0.08116965000000001,0.943,,0.00,0.00,0.338,,,338,31434,0,0,876,20150,0,0,342,6588,0,0,546,9692,0,0,694,12288,0,0,58,1406,0,0,7880,135718,0,0,0,644,0,0,3026,36172,0,0,648,8800,0,0 +17-43110587-CAAAAAAA-C,17,43110587,,CAAAAAAA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4061_135-4055del,,c.135-4061_135-4055del,intron_variant,,,,10,169942,0.000058843605465394074,0,0,sas,0.00002288,1.12,,0.00,0.00,0.338,,,0,4268,0,0,1,11400,0,0,0,4366,0,0,0,6382,0,0,1,7146,0,0,0,1268,0,0,5,92506,0,0,,,,,3,34752,0,0,0,7854,0,0 +17-43110587-CAAAA-C,17,43110587,rs201518255,CAAAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4058_135-4055del,,c.135-4058_135-4055del,intron_variant,,,,1817,267996,0.006779951939581187,0,0,sas,0.008371889999999986,1.14,,0.0100,0.00,0.338,,,45,31534,0,0,97,20656,0,0,59,6754,0,0,74,9878,0,0,76,12546,0,0,5,1448,0,0,1037,138218,0,0,0,644,0,0,342,37286,0,0,82,9032,0,0 +17-43110587-C-CAAA,17,43110587,rs201518255,C,CAAA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4057_135-4055dup,,c.135-4057_135-4055dup,intron_variant,,,,124,271674,0.00045642939699787246,0,0,sas,0.00047810000000000013,1.02,,0.00,0.00,0.338,,,6,31622,0,0,6,20872,0,0,1,6856,0,0,4,9998,0,0,2,12712,0,0,0,1456,0,0,72,140276,0,0,0,644,0,0,26,38046,0,0,7,9192,0,0 +17-43110588-A-C,17,43110588,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4055T>G,,c.135-4055T>G,intron_variant,,,,1,6088,0.000164257555847569,0,0,,,5.66,,0.00,0.0100,0.269,,,0,92,0,0,0,394,0,0,0,440,0,0,0,138,0,0,1,288,0,0,0,132,0,0,0,3040,0,0,,,,,0,1300,0,0,0,264,0,0 +17-43110592-A-C,17,43110592,rs957314576,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4059T>G,,c.135-4059T>G,intron_variant,,,,6,151946,0.000039487712740052385,0,0,afr,0.00006972999999999997,1.93,,0.0100,0.0200,0.264,,,6,41394,0,0,0,15224,0,0,0,3466,0,0,0,5184,0,0,0,10562,0,0,0,316,0,0,0,67976,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43110594-A-G,17,43110594,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4061T>C,,c.135-4061T>C,intron_variant,,,,1,255960,0.000003906860446944835,0,0,,,4.95,,0.0300,0.0600,0.269,,,0,5964,0,0,0,17006,0,0,0,8676,0,0,0,8570,0,0,0,10556,0,0,0,2418,0,0,0,138930,0,0,,,,,0,52032,0,0,1,11808,0,0 +17-43110595-A-AAG,17,43110595,,A,AAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063_135-4062insCT,,c.135-4063_135-4062insCT,intron_variant,,,,1,256624,0.000003896751667809714,0,0,,,0.404,,0.00,0.0600,0.224,,,0,5984,0,0,0,17064,0,0,0,8688,0,0,0,8614,0,0,0,10596,0,0,0,2436,0,0,1,139230,0,0,,,,,0,52146,0,0,0,11866,0,0 +17-43110595-A-AG,17,43110595,rs1280295944,A,AG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063_135-4062insC,,c.135-4063_135-4062insC,intron_variant,,,,3,256624,0.00001169025500342914,0,0,amr,0.00004747,0.415,,0.0100,0.0800,0.224,,,0,5984,0,0,3,17064,0,0,0,8688,0,0,0,8614,0,0,0,10596,0,0,0,2436,0,0,0,139230,0,0,,,,,0,52146,0,0,0,11866,0,0 +17-43110596-A-G,17,43110596,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4063T>C,,c.135-4063T>C,intron_variant,,,,1,256202,0.000003903170154799728,0,0,,,2.07,,0.0400,0.0900,0.0710,,,0,5968,0,0,0,17044,0,0,0,8668,0,0,0,8598,0,0,0,10592,0,0,0,2424,0,0,1,139046,0,0,,,,,0,52054,0,0,0,11808,0,0 +17-43110598-A-G,17,43110598,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4065T>C,,c.135-4065T>C,intron_variant,,,,2,255200,0.000007836990595611285,0,0,,,5.44,,0.0300,0.0700,0.269,,,0,5954,0,0,0,17020,0,0,0,8614,0,0,0,8580,0,0,0,10568,0,0,0,2430,0,0,1,138448,0,0,,,,,1,51784,0,0,0,11802,0,0 +17-43110601-A-AAG,17,43110601,,A,AAG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4069_135-4068insCT,,c.135-4069_135-4068insCT,intron_variant,,,,1,251678,0.000003973331002312478,0,0,,,1.92,,0.00,0.0100,0.269,,,0,5952,0,0,0,17106,0,0,0,8346,0,0,0,8508,0,0,0,10384,0,0,0,2406,0,0,1,136266,0,0,,,,,0,51050,0,0,0,11660,0,0 +17-43110601-AAAAG-A,17,43110601,,AAAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072_135-4069del,,c.135-4072_135-4069del,intron_variant,,,,1,251678,0.000003973331002312478,0,0,,,1.86,,0.0200,0.00,0.269,,,0,5952,0,0,1,17106,0,0,0,8346,0,0,0,8508,0,0,0,10384,0,0,0,2406,0,0,0,136266,0,0,,,,,0,51050,0,0,0,11660,0,0 +17-43110603-AAG-A,17,43110603,,AAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072_135-4071del,,c.135-4072_135-4071del,intron_variant,,,,1,242896,0.000004116988340689019,0,0,,,1.69,,0.00,0.0100,0.269,,,0,5826,0,0,0,16580,0,0,0,7816,0,0,0,8312,0,0,0,9986,0,0,0,2358,0,0,1,131588,0,0,,,,,0,49176,0,0,0,11254,0,0 +17-43110604-AG-A,17,43110604,,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4072del,,c.135-4072del,intron_variant,,,,1,236742,0.0000042240075694215644,0,0,,,1.62,,0.00,0.0100,-0.733,,,0,5670,0,0,0,16330,0,0,0,7570,0,0,0,8196,0,0,0,9668,0,0,0,2264,0,0,1,128180,0,0,,,,,0,47892,0,0,0,10972,0,0 +17-43110606-T-G,17,43110606,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4073A>C,,c.135-4073A>C,intron_variant,,,,2,219780,0.0000091000091000091,0,0,,,2.84,,0.0100,0.0100,0.270,,,0,5254,0,0,0,15328,0,0,0,6794,0,0,0,7602,0,0,0,9220,0,0,0,1326,0,0,1,119006,0,0,,,,,1,45028,0,0,0,10222,0,0 +17-43110606-T-C,17,43110606,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4073A>G,,c.135-4073A>G,intron_variant,,,,1,219774,0.0000045501287686441525,0,0,,,3.33,,0.00,0.00,0.270,,,0,5254,0,0,0,15330,0,0,0,6792,0,0,0,7602,0,0,0,9220,0,0,0,1326,0,0,0,119004,0,0,,,,,1,45026,0,0,0,10220,0,0 +17-43110610-T-G,17,43110610,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4077A>C,,c.135-4077A>C,intron_variant,,,,1,232840,0.0000042947947088129185,0,0,,,2.34,,0.00,0.00,0.270,,,0,5572,0,0,0,15858,0,0,0,7356,0,0,0,8106,0,0,0,9654,0,0,0,2262,0,0,1,125864,0,0,,,,,0,47332,0,0,0,10836,0,0 +17-43110614-G-A,17,43110614,rs753270719,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4081C>T,,c.135-4081C>T,intron_variant,,,,1,151456,0.000006602577646313121,0,0,,,2.71,,0.0700,0.140,0.536,,,0,41258,0,0,0,15166,0,0,0,3466,0,0,1,5168,0,0,0,10428,0,0,0,314,0,0,0,67864,0,0,0,910,0,0,0,4806,0,0,0,2076,0,0 +17-43110614-G-C,17,43110614,rs753270719,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4081C>G,,c.135-4081C>G,intron_variant,,,,4,233692,0.000017116546565564933,0,0,sas,0.000028680000000000007,2.61,,0.00,0.00,0.536,,,0,5524,0,0,0,15708,0,0,0,7472,0,0,0,8142,0,0,0,9736,0,0,0,2124,0,0,0,126748,0,0,,,,,4,47378,0,0,0,10860,0,0 +17-43110616-A-G,17,43110616,rs1484557842,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4083T>C,,c.135-4083T>C,intron_variant,,,,9,240724,0.000037387215234043966,1,0,amr,0.00029192000000000074,5.97,,0.0100,0.0100,1.10,,,0,5702,0,0,9,16038,1,0,0,7668,0,0,0,8388,0,0,0,9954,0,0,0,2364,0,0,0,130732,0,0,,,,,0,48650,0,0,0,11228,0,0 +17-43110618-A-C,17,43110618,rs898440584,A,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4085T>G,,c.135-4085T>G,intron_variant,,,,2,152094,0.000013149762646784225,0,0,,,5.26,,0.00,0.0100,0.167,,,0,41416,0,0,1,15242,0,0,0,3470,0,0,0,5192,0,0,0,10598,0,0,0,316,0,0,0,68028,0,0,0,912,0,0,0,4828,0,0,1,2092,0,0 +17-43110622-T-C,17,43110622,rs1352159145,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4089A>G,,c.135-4089A>G,intron_variant,,,,1,151954,0.000006580938968372007,0,0,,,2.76,,0.0100,0.00,0.505,,,0,41366,0,0,0,15244,0,0,0,3472,0,0,0,5188,0,0,0,10540,0,0,0,316,0,0,1,68006,0,0,0,912,0,0,0,4820,0,0,0,2090,0,0 +17-43110628-A-G,17,43110628,rs758878834,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4095T>C,,c.135-4095T>C,intron_variant,,,,1,233134,0.000004289378640610122,0,0,,,4.29,,0.00,0.00,-0.0630,,,0,5676,0,0,0,15896,0,0,0,7120,0,0,0,8256,0,0,0,9742,0,0,0,2242,0,0,0,126138,0,0,,,,,1,47216,0,0,0,10848,0,0 +17-43110634-A-G,17,43110634,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4101T>C,,c.135-4101T>C,intron_variant,,,,1,228246,0.000004381237787299668,0,0,,,3.93,,0.00,0.00,0.200,,,0,5660,0,0,0,15996,0,0,0,6762,0,0,1,8210,0,0,0,9532,0,0,0,1760,0,0,0,123524,0,0,,,,,0,46188,0,0,0,10614,0,0 +17-43110636-T-G,17,43110636,rs1482068503,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4103A>C,,c.135-4103A>C,intron_variant,,,,4,382020,0.000010470655986597561,0,0,eas,0.00010111999999999991,1.57,,0.00,0.00,0.0620,,,0,47104,0,0,0,31314,0,0,0,10234,0,0,4,13428,0,0,0,20176,0,0,0,2618,0,0,0,192178,0,0,0,912,0,0,0,51252,0,0,0,12804,0,0 +17-43110638-C-A,17,43110638,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4105G>T,,c.135-4105G>T,intron_variant,,,,1,223678,0.00000447071236330797,0,0,,,0.921,,0.00,0.0100,-0.00200,,,0,5600,0,0,0,15820,0,0,0,6504,0,0,0,8102,0,0,0,9324,0,0,0,2126,0,0,1,120414,0,0,,,,,0,45400,0,0,0,10388,0,0 +17-43110639-T-A,17,43110639,rs931219898,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4106A>T,,c.135-4106A>T,intron_variant,,,,2,371590,0.0000053822761645900055,0,0,,,3.29,,0.00,0.0100,0.597,,,2,46848,0,0,0,30638,0,0,0,9796,0,0,0,13216,0,0,0,19706,0,0,0,2518,0,0,0,185818,0,0,0,912,0,0,0,49792,0,0,0,12346,0,0 +17-43110640-C-T,17,43110640,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4107G>A,,c.135-4107G>A,intron_variant,,,,1,218438,0.000004577958047592452,0,0,,,1.22,,0.00,0.0200,0.0810,,,0,5528,0,0,1,15460,0,0,0,6326,0,0,0,8028,0,0,0,9158,0,0,0,2216,0,0,0,116804,0,0,,,,,0,44746,0,0,0,10172,0,0 +17-43110640-C-A,17,43110640,,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.135-4107G>T,,c.135-4107G>T,intron_variant,,,,2,218438,0.000009155916095184904,0,0,nfe,0.00000284,1.00,,0.00,0.0100,0.0810,,,0,5528,0,0,0,15460,0,0,0,6326,0,0,0,8028,0,0,0,9158,0,0,0,2216,0,0,2,116804,0,0,,,,,0,44746,0,0,0,10172,0,0 +17-43110642-C-T,17,43110642,rs2054994736,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4109G>A,,c.135-4109G>A,intron_variant,,,,2,366940,0.0000054504823676895406,0,0,,,0.905,,0.00,0.00,-0.569,,,0,46710,0,0,0,30450,0,0,0,9652,0,0,0,13082,0,0,1,19410,0,0,0,2466,0,0,1,183020,0,0,0,908,0,0,0,49086,0,0,0,12156,0,0 +17-43110643-A-G,17,43110643,rs1380468954,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.135-4110T>C,,c.135-4110T>C,intron_variant,,,,1,152034,0.0000065774760908744095,0,0,,,0.805,,0.00,0.00,-0.228,,,0,41408,0,0,0,15246,0,0,0,3460,0,0,0,5188,0,0,0,10574,0,0,0,316,0,0,1,68014,0,0,0,912,0,0,0,4832,0,0,0,2084,0,0 +17-43110644-T-G,17,43110644,rs2054994844,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.135-4111A>C,,c.135-4111A>C,intron_variant,,,,2,367050,0.0000054488489306633975,0,0,,,3.51,,0.00,0.00,0.270,,,0,46866,0,0,2,30480,0,0,0,9516,0,0,0,13174,0,0,0,19474,0,0,0,2560,0,0,0,183008,0,0,0,910,0,0,0,48898,0,0,0,12164,0,0 +17-43112432-T-C,17,43112432,rs893152351,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3294A>G,,c.134+3294A>G,intron_variant,,,,4,152294,0.00002626498745846849,0,0,sas,0.00028182000000000077,9.07,,0.00,0.0100,0.949,,,0,41568,0,0,0,15282,0,0,0,3472,0,0,0,5178,0,0,0,10618,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,4,4832,0,0,0,2112,0,0 +17-43112441-C-A,17,43112441,rs968938311,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3285G>T,,c.134+3285G>T,intron_variant,,,,3,152064,0.000019728535353535355,0,0,afr,0.00001922,6.37,,0.0100,0.00,0.331,,,3,41386,0,0,0,15250,0,0,0,3472,0,0,0,5192,0,0,0,10602,0,0,0,316,0,0,0,68016,0,0,0,912,0,0,0,4826,0,0,0,2092,0,0 +17-43112442-A-G,17,43112442,rs1597907660,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3284T>C,,c.134+3284T>C,intron_variant,,,,1,152100,0.000006574621959237344,0,0,,,7.93,,0.00,0.00,-0.742,,,0,41412,0,0,0,15250,0,0,0,3472,0,0,0,5186,0,0,0,10620,0,0,0,316,0,0,1,68010,0,0,0,912,0,0,0,4836,0,0,0,2086,0,0 +17-43112453-A-G,17,43112453,,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3273T>C,,c.134+3273T>C,intron_variant,,,,1,152098,0.000006574708411681942,0,0,,,7.78,,0.00,0.00,0.264,,,0,41404,0,0,0,15256,0,0,0,3466,0,0,0,5180,0,0,0,10616,0,0,0,314,0,0,1,68024,0,0,0,912,0,0,0,4832,0,0,0,2094,0,0 +17-43112456-CTTAAAAA-C,17,43112456,rs763215241,CTTAAAAA,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3263_134+3269del,,c.134+3263_134+3269del,intron_variant,,,,48,152126,0.0003155279176472135,0,0,nfe,0.0003677900000000002,4.00,,0.00,0.00,0.331,,,6,41508,0,0,7,15262,0,0,0,3470,0,0,0,5178,0,0,0,10588,0,0,0,294,0,0,34,67974,0,0,0,912,0,0,0,4826,0,0,1,2114,0,0 +17-43112466-A-G,17,43112466,rs2055079739,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3260T>C,,c.134+3260T>C,intron_variant,,,,1,152176,0.00000657133845021554,0,0,,,6.83,,0.00,0.00,0.271,,,0,41436,0,0,0,15266,0,0,0,3472,0,0,0,5194,0,0,0,10622,0,0,0,316,0,0,1,68032,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43112482-T-C,17,43112482,rs1011603526,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3244A>G,,c.134+3244A>G,intron_variant,,,,1,152150,0.000006572461386789352,0,0,,,9.04,,0.500,0.500,0.272,,,0,41426,0,0,1,15266,0,0,0,3470,0,0,0,5202,0,0,0,10610,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2084,0,0 +17-43112484-T-C,17,43112484,rs2055080253,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3242A>G,,c.134+3242A>G,intron_variant,,,,1,152176,0.00000657133845021554,0,0,,,8.90,,0.00,0.00,0.272,,,1,41450,0,0,0,15262,0,0,0,3470,0,0,0,5202,0,0,0,10618,0,0,0,316,0,0,0,68024,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43112489-G-A,17,43112489,rs2154561975,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3237C>T,,c.134+3237C>T,intron_variant,,,,1,152242,0.0000065684896414918355,0,0,,,11.7,,0.00,0.00,0.337,,,0,41542,0,0,1,15278,0,0,0,3472,0,0,0,5186,0,0,0,10608,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4818,0,0,0,2110,0,0 +17-43112490-T-C,17,43112490,rs902467512,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3236A>G,,c.134+3236A>G,intron_variant,,,,3,152172,0.00001971453355413611,0,0,nfe,0.00000488,6.37,,0.00,0.00,0.272,,,0,41440,0,0,1,15262,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,2,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43112494-C-T,17,43112494,rs1288508251,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3232G>A,,c.134+3232G>A,intron_variant,,,,5,152094,0.000032874406616960565,0,0,nfe,0.000028460000000000005,4.45,,0.0500,0.0200,0.340,,,0,41416,0,0,0,15248,0,0,0,3470,0,0,0,5192,0,0,0,10596,0,0,0,316,0,0,5,68028,0,0,0,910,0,0,0,4828,0,0,0,2090,0,0 +17-43112503-T-C,17,43112503,rs2055081116,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3223A>G,,c.134+3223A>G,intron_variant,,,,1,152140,0.000006572893387669252,0,0,,,2.89,,0.0100,0.0400,-0.740,,,0,41446,0,0,0,15246,0,0,0,3472,0,0,0,5198,0,0,0,10612,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4826,0,0,0,2088,0,0 +17-43112504-T-C,17,43112504,rs867886191,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3222A>G,,c.134+3222A>G,intron_variant,,,,3,152246,0.0000197049511974042,0,0,amr,0.00005287,3.85,,0.0900,0.0700,0.272,,,0,41544,0,0,3,15280,0,0,0,3468,0,0,0,5178,0,0,0,10612,0,0,0,292,0,0,0,68016,0,0,0,912,0,0,0,4832,0,0,0,2112,0,0 +17-43112506-AGGG-A,17,43112506,,AGGG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3217_134+3219del,,c.134+3217_134+3219del,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,1.02,,0.140,0.0400,-0.611,,,0,41438,0,0,0,15246,0,0,0,3466,0,0,0,5190,0,0,0,10624,0,0,0,316,0,0,1,68030,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43112507-G-C,17,43112507,rs532285174,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3219C>G,,c.134+3219C>G,intron_variant,,,,202,152250,0.0013267651888341544,0,0,afr,0.004110370000000001,1.95,,0.170,0.150,0.337,,,193,41536,0,0,5,15278,0,0,0,3468,0,0,0,5182,0,0,0,10612,0,0,0,294,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,3,2112,0,0 +17-43112510-G-GTCCTAGCTA,17,43112510,rs2055082432,G,GTCCTAGCTA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3215_134+3216insTAGCTAGGA,,c.134+3215_134+3216insTAGCTAGGA,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,0.646,,0.00,0.00,-0.556,,,0,41432,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10614,0,0,0,316,0,0,1,68034,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 +17-43112510-G-A,17,43112510,rs1411175352,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3216C>T,,c.134+3216C>T,intron_variant,,,,1,152144,0.000006572720580502681,0,0,,,1.82,,0.00,0.00,-0.556,,,1,41432,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10614,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4822,0,0,0,2092,0,0 +17-43112513-G-C,17,43112513,rs976538357,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3213C>G,,c.134+3213C>G,intron_variant,,,,1,152174,0.0000065714248163286764,0,0,,,0.481,,0.00,0.0100,-0.655,,,1,41444,0,0,0,15272,0,0,0,3466,0,0,0,5194,0,0,0,10616,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4832,0,0,0,2090,0,0 +17-43112517-T-A,17,43112517,rs1226135548,T,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3209A>T,,c.134+3209A>T,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,1.13,,0.00,0.00,-0.720,,,0,41436,0,0,0,15256,0,0,0,3468,0,0,0,5198,0,0,0,10604,0,0,0,316,0,0,1,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43112522-G-A,17,43112522,rs1481299033,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3204C>T,,c.134+3204C>T,intron_variant,,,,1,152172,0.000006571511184712037,0,0,,,1.42,,0.00,0.00,0.337,,,0,41434,0,0,0,15268,0,0,0,3472,0,0,1,5202,0,0,0,10612,0,0,0,314,0,0,0,68038,0,0,0,912,0,0,0,4828,0,0,0,2092,0,0 +17-43112523-A-G,17,43112523,rs920985565,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3203T>C,,c.134+3203T>C,intron_variant,,,,1,152162,0.000006571943060685322,0,0,,,2.93,,0.110,0.0700,0.271,,,1,41434,0,0,0,15262,0,0,0,3472,0,0,0,5200,0,0,0,10618,0,0,0,316,0,0,0,68026,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43112524-T-C,17,43112524,rs1018740840,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3202A>G,,c.134+3202A>G,intron_variant,,,,2,152116,0.000013147860843040837,0,0,,,0.584,,0.0300,0.00,-1.83,,,0,41420,0,0,0,15262,0,0,0,3470,0,0,1,5200,0,0,0,10598,0,0,0,312,0,0,1,68020,0,0,0,912,0,0,0,4830,0,0,0,2092,0,0 +17-43112539-T-C,17,43112539,rs547282583,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3187A>G,,c.134+3187A>G,intron_variant,,,,52,152148,0.0003417724846859637,1,0,amr,0.0005034100000000008,4.30,,0.0100,0.0200,-0.574,,,2,41520,0,0,13,15260,0,0,0,3466,0,0,0,5182,0,0,0,10604,0,0,8,294,1,0,24,67982,0,0,0,910,0,0,2,4822,0,0,3,2108,0,0 +17-43112541-G-T,17,43112541,rs2154562048,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3185C>A,,c.134+3185C>A,intron_variant,,,,1,152232,0.000006568921120395186,0,0,,,4.61,,0.00,0.0100,0.337,,,0,41530,0,0,0,15284,0,0,0,3466,0,0,1,5186,0,0,0,10598,0,0,0,294,0,0,0,68022,0,0,0,912,0,0,0,4828,0,0,0,2112,0,0 +17-43112557-C-T,17,43112557,rs2055084375,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3169G>A,,c.134+3169G>A,intron_variant,,,,1,152138,0.000006572979794660111,0,0,,,9.06,,0.0300,0.0400,0.340,,,0,41428,0,0,0,15270,0,0,0,3470,0,0,0,5198,0,0,0,10596,0,0,0,316,0,0,1,68024,0,0,0,912,0,0,0,4832,0,0,0,2092,0,0 +17-43112563-T-TCACA,17,43112563,rs1327644170,T,TCACA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3159_134+3162dup,,c.134+3159_134+3162dup,intron_variant,,,,1,152042,0.00000657713000355165,0,0,,,7.18,,0.00,0.00,0.272,,,1,41388,0,0,0,15258,0,0,0,3468,0,0,0,5190,0,0,0,10600,0,0,0,316,0,0,0,68010,0,0,0,912,0,0,0,4816,0,0,0,2084,0,0 +17-43112572-T-C,17,43112572,rs2055085377,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3154A>G,,c.134+3154A>G,intron_variant,,,,1,152128,0.000006573411863693732,0,0,,,10.8,,0.130,0.180,0.272,,,0,41428,0,0,0,15266,0,0,0,3470,0,0,0,5192,0,0,0,10612,0,0,0,316,0,0,1,68012,0,0,0,912,0,0,0,4832,0,0,0,2088,0,0 +17-43112581-G-T,17,43112581,rs1322064929,G,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3145C>A,,c.134+3145C>A,intron_variant,,,,1,152060,0.000006576351440220966,0,0,,,8.64,,0.110,0.150,0.337,,,0,41418,0,0,0,15258,0,0,0,3468,0,0,0,5180,0,0,0,10586,0,0,0,314,0,0,1,68012,0,0,0,912,0,0,0,4820,0,0,0,2092,0,0 +17-43112588-T-G,17,43112588,rs1223550447,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3138A>C,,c.134+3138A>C,intron_variant,,,,1,152092,0.000006574967782657865,0,0,,,11.1,,0.0100,0.0100,0.272,,,0,41426,0,0,0,15258,0,0,0,3472,0,0,0,5190,0,0,0,10604,0,0,0,316,0,0,1,68008,0,0,0,912,0,0,0,4822,0,0,0,2084,0,0 +17-43112591-C-T,17,43112591,rs1263596513,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3135G>A,,c.134+3135G>A,intron_variant,,,,2,152052,0.000013153394891221425,0,0,nfe,0.00000488,11.3,,0.00,0.00,0.340,,,0,41416,0,0,0,15250,0,0,0,3472,0,0,0,5186,0,0,0,10598,0,0,0,316,0,0,2,67990,0,0,0,910,0,0,0,4824,0,0,0,2090,0,0 +17-43112613-GAAAC-G,17,43112613,rs1490185206,GAAAC,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3109_134+3112del,,c.134+3109_134+3112del,intron_variant,,,,2,151862,0.000013169851575772741,0,0,,,6.27,,0.0500,0.00,-0.864,,,0,41358,0,0,0,15226,0,0,0,3466,0,0,0,5186,0,0,1,10548,0,0,0,316,0,0,1,67962,0,0,0,910,0,0,0,4808,0,0,0,2082,0,0 +17-43112621-C-G,17,43112621,rs1432277534,C,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3105G>C,,c.134+3105G>C,intron_variant,,,,2,151992,0.000013158587294068109,0,0,nfe,0.00000488,4.88,,0.0100,0.0300,0.325,,,0,41370,0,0,0,15248,0,0,0,3470,0,0,0,5194,0,0,0,10592,0,0,0,316,0,0,2,67988,0,0,0,908,0,0,0,4820,0,0,0,2086,0,0 +17-43112629-T-C,17,43112629,rs2055088008,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3097A>G,,c.134+3097A>G,intron_variant,,,,1,149250,0.000006700167504187605,0,0,,,7.17,,0.0100,0.0100,0.272,,,0,40034,0,0,0,14914,0,0,0,3450,0,0,0,5112,0,0,0,10342,0,0,0,316,0,0,1,67448,0,0,0,908,0,0,0,4690,0,0,0,2036,0,0 +17-43112631-T-C,17,43112631,rs1182815579,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3095A>G,,c.134+3095A>G,intron_variant,,,,1,148830,0.000006719075455217362,0,0,,,5.42,,0.0200,0.0100,0.272,,,1,39832,0,0,0,14878,0,0,0,3442,0,0,0,5096,0,0,0,10316,0,0,0,316,0,0,0,67336,0,0,0,908,0,0,0,4674,0,0,0,2032,0,0 +17-43112632-ATG-A,17,43112632,rs1036811698,ATG,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3092_134+3093del,,c.134+3092_134+3093del,intron_variant,,,,1,148694,0.000006725220923507337,0,0,,,2.52,,0.0300,0.0500,0.271,,,1,39748,0,0,0,14842,0,0,0,3448,0,0,0,5098,0,0,0,10308,0,0,0,316,0,0,0,67350,0,0,0,908,0,0,0,4654,0,0,0,2022,0,0 +17-43112634-G-A,17,43112634,rs2055088575,G,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3092C>T,,c.134+3092C>T,intron_variant,,,,1,147864,0.0000067629713791051235,0,0,,,2.30,,0.0200,0.0200,0.337,,,0,39352,0,0,0,14782,0,0,0,3434,0,0,0,5082,0,0,0,10218,0,0,0,314,0,0,0,67148,0,0,0,902,0,0,0,4612,0,0,1,2020,0,0 +17-43112637-T-TCA,17,43112637,rs1177065820,T,TCA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3087_134+3088dup,,c.134+3087_134+3088dup,intron_variant,,,,6,147614,0.00004064655114013576,0,0,eas,0.0005152700000000023,1.52,,0.0200,0.00,0.272,,,0,39330,0,0,0,14740,0,0,0,3430,0,0,6,5070,0,0,0,10220,0,0,0,292,0,0,0,66998,0,0,0,906,0,0,0,4608,0,0,0,2020,0,0 +17-43112640-C-T,17,43112640,rs2055089190,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3086G>A,,c.134+3086G>A,intron_variant,,,,1,147510,0.0000067792014100738935,0,0,,,2.93,,0.00,0.0100,0.340,,,0,39186,0,0,1,14728,0,0,0,3432,0,0,0,5082,0,0,0,10230,0,0,0,310,0,0,0,67020,0,0,0,904,0,0,0,4614,0,0,0,2004,0,0 +17-43112648-C-CAT,17,43112648,rs1375700479,C,CAT,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3076_134+3077dup,,c.134+3076_134+3077dup,intron_variant,,,,4,147050,0.000027201632097925877,0,0,nfe,0.00001189,0.189,,0.0100,0.00,-1.49,,,1,38830,0,0,0,14708,0,0,0,3438,0,0,0,5070,0,0,0,10218,0,0,0,310,0,0,3,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 +17-43112648-CAT-C,17,43112648,rs1375700479,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+3076_134+3077del,,c.134+3076_134+3077del,intron_variant,,,,4,147052,0.00002720126213856323,0,0,eas,0.00006968999999999999,0.133,,0.00,0.00,-1.49,,,0,38830,0,0,1,14708,0,0,0,3438,0,0,2,5070,0,0,0,10218,0,0,1,312,0,0,0,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 +17-43112648-C-T,17,43112648,rs1175146626,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3078G>A,,c.134+3078G>A,intron_variant,,,,1,147050,0.000006800408024481469,0,0,,,0.343,,0.00,0.0100,-1.49,,,0,38830,0,0,0,14708,0,0,0,3438,0,0,0,5070,0,0,0,10218,0,0,0,310,0,0,1,66972,0,0,0,906,0,0,0,4606,0,0,0,1992,0,0 +17-43112650-T-C,17,43112650,rs1253993640,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3076A>G,,c.134+3076A>G,intron_variant,,,,6,147142,0.00004077693656467902,0,0,nfe,0.000019920000000000002,0.306,,0.00,0.00,-1.96,,,2,38820,0,0,0,14704,0,0,0,3430,0,0,0,5062,0,0,0,10246,0,0,0,316,0,0,4,67058,0,0,0,904,0,0,0,4598,0,0,0,2004,0,0 +17-43112654-TATAAC-T,17,43112654,rs1567816108,TATAAC,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3067_134+3071del,,c.134+3067_134+3071del,intron_variant,,,,2,147464,0.000013562632235664297,0,0,nfe,0.00000495,0.578,,0.00,0.00,0.267,,,0,38980,0,0,0,14750,0,0,0,3440,0,0,0,5088,0,0,0,10262,0,0,0,314,0,0,2,67078,0,0,0,902,0,0,0,4630,0,0,0,2020,0,0 +17-43112654-T-C,17,43112654,rs928804975,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3072A>G,,c.134+3072A>G,intron_variant,,,,11,147578,0.00007453685508680156,0,0,amr,0.000054659999999999995,2.54,,0.00,0.0100,0.267,,,0,39102,0,0,3,14768,0,0,0,3440,0,0,0,5076,0,0,0,10262,0,0,0,292,0,0,7,67070,0,0,0,902,0,0,1,4626,0,0,0,2040,0,0 +17-43112658-A-G,17,43112658,rs1003250810,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3068T>C,,c.134+3068T>C,intron_variant,,,,12,152266,0.00007880945188026217,0,0,nfe,0.00010175999999999997,1.45,,0.00,0.00,0.252,,,0,41552,0,0,0,15284,0,0,0,3472,0,0,0,5186,0,0,0,10610,0,0,0,294,0,0,12,68018,0,0,0,912,0,0,0,4826,0,0,0,2112,0,0 +17-43112681-C-A,17,43112681,rs1176795378,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+3045G>T,,c.134+3045G>T,intron_variant,,,,2,146588,0.000013643681611045925,0,0,afr,0.00000858,0.468,,0.00,0.0100,-0.650,,,2,38608,0,0,0,14726,0,0,0,3436,0,0,0,5052,0,0,0,10116,0,0,0,306,0,0,0,66852,0,0,0,902,0,0,0,4584,0,0,0,2006,0,0 +17-43115652-G-T,17,43115652,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+74C>A,,c.134+74C>A,intron_variant,,,,1,658886,0.0000015177132311204063,0,0,,,0.276,,0.00,0.00,0.00,,,0,12128,0,0,0,750,0,0,0,4056,0,0,0,2764,0,0,0,250,0,0,0,1310,0,0,1,603046,0,0,,,,,0,12952,0,0,0,21630,0,0 +17-43115652-G-C,17,43115652,rs1407750115,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+74C>G,,c.134+74C>G,intron_variant,,,,2,811032,0.0000024659939435188745,0,0,,,0.293,,0.00,0.00,0.00,,,1,53548,0,0,0,16010,0,0,0,7528,0,0,0,7966,0,0,0,10858,0,0,0,1626,0,0,1,671078,0,0,0,910,0,0,0,17786,0,0,0,23722,0,0 +17-43115655-A-T,17,43115655,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+71T>A,,c.134+71T>A,intron_variant,,,,1,663062,0.0000015081545918782859,0,0,,,0.419,,0.00,0.00,-0.415,,,0,12216,0,0,0,758,0,0,0,4096,0,0,0,2754,0,0,0,256,0,0,0,1312,0,0,1,606874,0,0,,,,,0,13046,0,0,0,21750,0,0 +17-43115655-A-C,17,43115655,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+71T>G,,c.134+71T>G,intron_variant,,,,5,663064,0.000007540750214157306,0,0,nfe,0.00000241,0.512,,0.00,0.00,-0.415,,,0,12216,0,0,0,758,0,0,0,4096,0,0,0,2754,0,0,0,256,0,0,0,1312,0,0,5,606874,0,0,,,,,0,13048,0,0,0,21750,0,0 +17-43115656-G-C,17,43115656,rs2154565087,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+70C>G,,c.134+70C>G,intron_variant,,,,1,592220,0.0000016885616831582857,0,0,,,0.114,,0.00,0.00,-0.698,,,0,16670,0,0,0,38552,0,0,0,20182,0,0,0,34910,0,0,0,51024,0,0,0,4086,0,0,0,330994,0,0,,,,,1,64096,0,0,0,31706,0,0 +17-43115656-G-A,17,43115656,rs2154565087,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+70C>T,,c.134+70C>T,intron_variant,,,,1,592220,0.0000016885616831582857,0,0,,,0.135,,0.00,0.00,-0.698,,,0,16670,0,0,0,38552,0,0,0,20182,0,0,0,34910,0,0,0,51024,0,0,0,4086,0,0,0,330994,0,0,,,,,1,64096,0,0,0,31706,0,0 +17-43115660-T-C,17,43115660,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+66A>G,,c.134+66A>G,intron_variant,,,,2,1328110,0.0000015058993607457213,0,0,,,6.26,,0.00,0.00,0.591,,,0,30402,0,0,0,40212,0,0,0,24788,0,0,1,38270,0,0,0,51718,0,0,0,5524,0,0,1,1002228,0,0,,,,,0,79034,0,0,0,55934,0,0 +17-43115664-C-G,17,43115664,,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+62G>C,,c.134+62G>C,intron_variant,,,,1,603846,0.0000016560513773379306,0,0,,,6.38,,0.00,0.00,0.956,,,0,17070,0,0,0,40588,0,0,0,20408,0,0,0,35346,0,0,0,51734,0,0,1,4112,0,0,0,336712,0,0,,,,,0,65708,0,0,0,32168,0,0 +17-43115666-G-C,17,43115666,rs2154565114,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+60C>G,,c.134+60C>G,intron_variant,,,,1,1364704,7.32759631392595e-7,0,0,,,0.293,,0.00,0.00,-0.228,,,0,31298,0,0,0,41990,0,0,0,25146,0,0,1,38672,0,0,0,52120,0,0,0,5598,0,0,0,1031650,0,0,,,,,0,81104,0,0,0,57126,0,0 +17-43115667-G-C,17,43115667,rs2154565122,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+59C>G,,c.134+59C>G,intron_variant,,,,3,1369384,0.000002190766067078336,0,0,nfe,7.7e-7,2.13,,0.00,0.00,0.170,,,0,31416,0,0,0,42248,0,0,0,25174,0,0,0,38724,0,0,0,52184,0,0,0,5614,0,0,3,1035332,0,0,,,,,0,81386,0,0,0,57306,0,0 +17-43115667-G-T,17,43115667,rs2154565122,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+59C>A,,c.134+59C>A,intron_variant,,,,1,1369384,7.302553556927787e-7,0,0,,,1.89,,0.00,0.00,0.170,,,0,31416,0,0,0,42248,0,0,0,25174,0,0,0,38724,0,0,0,52184,0,0,0,5614,0,0,1,1035332,0,0,,,,,0,81386,0,0,0,57306,0,0 +17-43115668-G-T,17,43115668,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+58C>A,,c.134+58C>A,intron_variant,,,,1,1381744,7.237230630275941e-7,0,0,,,0.188,,0.00,0.00,-0.614,,,0,31708,0,0,0,42590,0,0,0,25300,0,0,0,38822,0,0,0,52272,0,0,0,5630,0,0,1,1045596,0,0,,,,,0,82080,0,0,0,57746,0,0 +17-43115668-G-A,17,43115668,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+58C>T,,c.134+58C>T,intron_variant,,,,1,1381744,7.237230630275941e-7,0,0,,,0.236,,0.00,0.00,-0.614,,,1,31708,0,0,0,42590,0,0,0,25300,0,0,0,38822,0,0,0,52272,0,0,0,5630,0,0,0,1045596,0,0,,,,,0,82080,0,0,0,57746,0,0 +17-43115670-T-C,17,43115670,rs1567817733,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+56A>G,,c.134+56A>G,intron_variant,,,,1,612646,0.0000016322639827894085,0,0,,,1.72,,0.00,0.00,-0.780,,,0,17350,0,0,0,42024,0,0,0,20592,0,0,0,35670,0,0,0,52212,0,0,0,4130,0,0,1,340988,0,0,,,,,0,67176,0,0,0,32504,0,0 +17-43115671-A-G,17,43115671,rs2055235438,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.134+55T>C,,c.134+55T>C,intron_variant,,,,1,152168,0.000006571683928289785,0,0,,,1.28,,0.00,0.00,-0.530,,,1,41446,0,0,0,15254,0,0,0,3472,0,0,0,5198,0,0,0,10614,0,0,0,316,0,0,0,68030,0,0,0,910,0,0,0,4834,0,0,0,2094,0,0 +17-43115672-T-C,17,43115672,rs1567817738,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+54A>G,,c.134+54A>G,intron_variant,,,,5,1404250,0.0000035606195478013174,0,0,eas,0.00004963999999999997,7.82,,0.00,0.00,0.0930,,,0,32184,0,0,0,43180,0,0,0,25492,0,0,5,39136,0,0,0,52590,0,0,0,5662,0,0,0,1064480,0,0,,,,,0,82998,0,0,0,58528,0,0 +17-43115673-G-A,17,43115673,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+53C>T,,c.134+53C>T,intron_variant,,,,1,1406612,7.109281024191461e-7,0,0,,,0.701,,0.00,0.00,0.00300,,,0,32222,0,0,0,43268,0,0,0,25510,0,0,0,39142,0,0,0,52590,0,0,0,5664,0,0,0,1066484,0,0,,,,,0,83140,0,0,1,58592,0,0 +17-43115676-G-C,17,43115676,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+50C>G,,c.134+50C>G,intron_variant,,,,4,1416496,0.0000028238696049971196,0,0,nfe,8.699999999999999e-7,1.91,,0.00,0.00,0.416,,,0,32464,0,0,0,43514,0,0,0,25600,0,0,0,39228,0,0,0,52714,0,0,0,5692,0,0,4,1074724,0,0,,,,,0,83666,0,0,0,58894,0,0 +17-43115677-G-C,17,43115677,rs777903680,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+49C>G,,c.134+49C>G,intron_variant,,,,3,1420760,0.0000021115459331625326,0,0,,,0.605,,0.00,0.00,-0.911,,,0,32566,0,0,0,43632,0,0,0,25624,0,0,0,39292,0,0,0,52760,0,0,0,5696,0,0,1,1078252,0,0,,,,,0,83884,0,0,2,59054,0,0 +17-43115677-G-A,17,43115677,rs777903680,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+49C>T,,c.134+49C>T,intron_variant,,,,1,1420760,7.038486443875109e-7,0,0,,,0.735,,0.00,0.00,-0.911,,,0,32566,0,0,0,43632,0,0,0,25624,0,0,0,39292,0,0,0,52760,0,0,0,5696,0,0,1,1078252,0,0,,,,,0,83884,0,0,0,59054,0,0 +17-43115679-CAA-C,17,43115679,rs1279671279,CAA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+45_134+46del,,c.134+45_134+46del,intron_variant,,,,2,771296,0.0000025930382110110773,0,0,,,3.74,,0.00,0.0100,-0.769,,,0,58822,0,0,1,58012,0,0,0,24158,0,0,0,41042,0,0,0,63088,0,0,0,4448,0,0,0,412886,0,0,0,910,0,0,0,73096,0,0,1,34834,0,0 +17-43115680-A-C,17,43115680,rs2154565150,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+46T>G,,c.134+46T>G,intron_variant,,,,1,815818,0.0000012257635894280343,0,0,,,7.23,,0.00,0.00,0.125,,,1,15362,0,0,0,954,0,0,0,5048,0,0,0,3532,0,0,0,272,0,0,0,1592,0,0,0,746176,0,0,,,,,0,16084,0,0,0,26798,0,0 +17-43115684-AC-A,17,43115684,,AC,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+41del,,c.134+41del,intron_variant,,,,1,1441438,6.937516563320795e-7,0,0,,,0.181,,0.00,0.00,1.52,,,0,33010,0,0,0,44008,0,0,0,25864,0,0,0,39474,0,0,0,53024,0,0,0,5740,0,0,1,1095854,0,0,,,,,0,84734,0,0,0,59730,0,0 +17-43115684-A-G,17,43115684,rs759508496,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+42T>C,,c.134+42T>C,intron_variant,,,,39,1593622,0.00002447255371725541,0,0,nfe,0.00002427,7.48,,0.00,0.00,1.52,,,0,74472,0,0,0,59266,0,0,0,29334,0,0,0,44668,0,0,0,63636,0,0,0,6056,0,0,38,1163890,0,0,0,912,0,0,0,89564,0,0,1,61824,0,0 +17-43115686-A-G,17,43115686,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+40T>C,,c.134+40T>C,intron_variant,,,,1,1443970,6.925351634729253e-7,0,0,,,12.1,,0.00,0.00,0.859,,,1,33068,0,0,0,44100,0,0,0,25900,0,0,0,39522,0,0,0,53050,0,0,0,5744,0,0,0,1097868,0,0,,,,,0,84890,0,0,0,59828,0,0 +17-43115690-G-A,17,43115690,rs757494313,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+36C>T,,c.134+36C>T,intron_variant,,,,1,1446028,6.915495412260343e-7,0,0,,,8.69,,0.00,0.00,0.0380,,,0,33116,0,0,0,44214,0,0,0,25918,0,0,0,39532,0,0,0,53104,0,0,0,5740,0,0,1,1099376,0,0,,,,,0,85146,0,0,0,59882,0,0 +17-43115695-T-C,17,43115695,rs1567817757,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+31A>G,,c.134+31A>G,intron_variant,,,,4,1604522,0.0000024929542879436993,0,0,nfe,8e-7,4.97,,0.00,0.00,0.0220,,,0,74630,0,0,0,59582,0,0,0,29454,0,0,0,44784,0,0,0,63816,0,0,0,6068,0,0,4,1172798,0,0,0,912,0,0,0,90320,0,0,0,62158,0,0 +17-43115695-T-A,17,43115695,,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+31A>T,,c.134+31A>T,intron_variant,,,,1,1452490,6.884728982643598e-7,0,0,,,4.30,,0.00,0.00,0.0220,,,0,33242,0,0,0,44362,0,0,0,25986,0,0,0,39592,0,0,0,53218,0,0,0,5752,0,0,0,1104778,0,0,,,,,0,85496,0,0,1,60064,0,0 +17-43115698-TG-T,17,43115698,,TG,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+27del,,c.134+27del,intron_variant,,,,2,1454736,0.0000013748198985932842,0,0,nfe,2.999999999999999e-7,4.08,,0.00,0.00,-1.95,,,0,33300,0,0,0,44412,0,0,0,26006,0,0,0,39622,0,0,0,53254,0,0,0,5756,0,0,2,1106594,0,0,,,,,0,85648,0,0,0,60144,0,0 +17-43115698-T-C,17,43115698,rs1234398532,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+28A>G,,c.134+28A>G,intron_variant,,,,5,1454736,0.000003437049746483211,0,0,nfe,0.0000013199999999999999,6.14,,0.00,0.00,-1.95,,,0,33300,0,0,0,44412,0,0,0,26006,0,0,0,39622,0,0,0,53254,0,0,0,5756,0,0,5,1106594,0,0,,,,,0,85648,0,0,0,60144,0,0 +17-43115699-G-A,17,43115699,rs1195425187,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+27C>T,,c.134+27C>T,intron_variant,,,,1,1454740,6.874080591720857e-7,0,0,,,5.78,,0.00,0.00,-0.308,,,0,33302,0,0,0,44424,0,0,0,26010,0,0,1,39602,0,0,0,53236,0,0,0,5754,0,0,0,1106602,0,0,,,,,0,85650,0,0,0,60160,0,0 +17-43115700-G-A,17,43115700,rs1419850756,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+26C>T,,c.134+26C>T,intron_variant,,,,1,626116,0.0000015971481322949742,0,0,,,2.95,,0.00,0.00,-1.71,,,0,17650,0,0,0,43458,0,0,0,20880,0,0,0,36006,0,0,0,52982,0,0,0,4146,0,0,1,348712,0,0,,,,,0,69292,0,0,0,32990,0,0 +17-43115702-G-A,17,43115702,,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+24C>T,,c.134+24C>T,intron_variant,,,,3,1455870,0.0000020606235446846217,0,0,,,9.39,,0.00,0.00,0.678,,,0,33348,0,0,0,44472,0,0,0,26020,0,0,0,39618,0,0,0,53284,0,0,0,5754,0,0,1,1107444,0,0,,,,,0,85746,0,0,2,60184,0,0 +17-43115703-C-T,17,43115703,rs781568696,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+23G>A,,c.134+23G>A,intron_variant,not provided,867247,,7,1456904,0.000004804709164090427,0,0,sas,0.00003783999999999999,1.89,,0.00,0.00,-2.99,,,0,33362,0,0,0,44476,0,0,0,26020,0,0,0,39628,0,0,0,53282,0,0,0,5756,0,0,0,1108386,0,0,,,,,7,85780,0,0,0,60214,0,0 +17-43115706-C-CA,17,43115706,rs768647585,C,CA,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+19dup,,c.134+19dup,intron_variant,Conflicting interpretations of pathogenicity,630596,,3,1610410,0.0000018628796393465018,0,0,afr,0.00001065,9.99,,0.00,0.0100,0.233,,,3,74806,0,0,0,59780,0,0,0,29522,0,0,0,44838,0,0,0,63890,0,0,0,6080,0,0,0,1177516,0,0,0,910,0,0,0,90708,0,0,0,62360,0,0 +17-43115706-C-T,17,43115706,rs2055237738,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+20G>A,,c.134+20G>A,intron_variant,not provided,865168,,6,1458332,0.000004114289475921806,0,0,nfe,0.0000013199999999999999,6.49,,0.00,0.00,0.233,,,0,33408,0,0,0,44532,0,0,0,26050,0,0,0,39642,0,0,0,53304,0,0,0,5764,0,0,5,1109490,0,0,,,,,0,85876,0,0,1,60266,0,0 +17-43115707-A-G,17,43115707,rs1060504590,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+19T>C,,c.134+19T>C,intron_variant,Likely benign,415604,,1,1458682,6.855503804119061e-7,0,0,,,12.8,,0.00,0.00,1.41,,,0,33418,0,0,0,44548,0,0,0,26048,0,0,0,39642,0,0,0,53316,0,0,0,5764,0,0,1,1109766,0,0,,,,,0,85902,0,0,0,60278,0,0 +17-43115708-T-C,17,43115708,rs1555599182,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+18A>G,,c.134+18A>G,intron_variant,Likely benign,629196,,1,1458836,6.854780112363555e-7,0,0,,,8.46,,0.00,0.00,-0.0900,,,0,33418,0,0,0,44556,0,0,0,26056,0,0,0,39648,0,0,0,53314,0,0,0,5764,0,0,0,1109874,0,0,,,,,0,85924,0,0,1,60282,0,0 +17-43115710-A-T,17,43115710,rs2055238665,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+16T>A,,c.134+16T>A,intron_variant,Uncertain significance,867851,,3,1459188,0.0000020559379600161188,0,0,eas,0.00002006,12.0,,0.0100,-0.0100,1.67,,,0,33432,0,0,0,44562,0,0,0,26064,0,0,3,39654,0,0,0,53320,0,0,0,5766,0,0,0,1110140,0,0,,,,,0,85948,0,0,0,60302,0,0 +17-43115711-C-T,17,43115711,rs863224417,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.134+15G>A,,c.134+15G>A,intron_variant,Likely benign,215868,,7,1611398,0.000004344054044996953,0,0,nfe,0.00000247,6.12,,0.00,0.00,0.273,,,0,74838,0,0,0,59810,0,0,0,29532,0,0,0,44850,0,0,0,63920,0,0,0,6080,0,0,7,1178278,0,0,0,910,0,0,0,90786,0,0,0,62394,0,0 +17-43115714-A-G,17,43115714,rs2055239927,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+12T>C,,c.134+12T>C,intron_variant,not provided,867524,,1,627558,0.0000015934782123724023,0,0,,,8.41,,0.00,0.00,0.278,,,0,17680,0,0,0,43606,0,0,0,20934,0,0,0,36034,0,0,0,53062,0,0,0,4148,0,0,1,349488,0,0,,,,,0,69554,0,0,0,33052,0,0 +17-43115716-T-C,17,43115716,rs2055240559,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+10A>G,,c.134+10A>G,intron_variant,not provided,865159,,2,1460346,0.0000013695384518463433,0,0,nfe,2.999999999999999e-7,14.9,,0.00,-0.0100,2.25,,,0,33454,0,0,0,44602,0,0,0,26092,0,0,0,39672,0,0,0,53340,0,0,0,5766,0,0,2,1111048,0,0,,,,,0,86038,0,0,0,60334,0,0 +17-43115717-C-G,17,43115717,rs1555599187,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+9G>C,,c.134+9G>C,intron_variant,Likely benign,491032,,1,1460402,6.847429680320898e-7,0,0,,,12.0,,0.00,0.00,1.19,,,0,33454,0,0,0,44586,0,0,0,26090,0,0,0,39670,0,0,0,53334,0,0,0,5766,0,0,1,1111120,0,0,,,,,0,86034,0,0,0,60348,0,0 +17-43115718-A-C,17,43115718,rs2055241049,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+8T>G,,c.134+8T>G,splice_region_variant,not provided,868182,,1,832846,0.000001200702170629384,0,0,,,10.0,,0.00,0.00,0.467,,,0,15778,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1618,0,0,1,761666,0,0,,,,,0,16452,0,0,0,27294,0,0 +17-43115719-AACTT-A,17,43115719,rs397508858,AACTT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+3_134+6del,,c.134+3_134+6del,intron_variant,Pathogenic/Likely pathogenic,54213,,2,627840,0.0000031855249745158003,0,0,nfe,9.5e-7,23.4,,0.980,-0.890,0.00800,,,0,17682,0,0,0,43624,0,0,0,20942,0,0,0,36042,0,0,0,53076,0,0,0,4148,0,0,2,349642,0,0,,,,,0,69620,0,0,0,33064,0,0 +17-43115723-T-A,17,43115723,rs80358064,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.134+3A>T,,c.134+3A>T,intron_variant,Conflicting interpretations of pathogenicity,531302,,1,627998,0.0000015923617591138826,0,0,,,24.3,,0.830,-0.790,6.30,,,0,17686,0,0,0,43654,0,0,0,20948,0,0,0,36042,0,0,0,53088,0,0,0,4146,0,0,1,349726,0,0,,,,,0,69640,0,0,0,33068,0,0 +17-43115726-T-G,17,43115726,rs80356863,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys45Thr,p.Lys45Thr,c.134A>C,missense_variant,Conflicting interpretations of pathogenicity,37402,,1,152138,0.000006572979794660111,0,0,,,23.5,0.631,0.0100,-0.0300,0.702,0.00,0.149,1,41442,0,0,0,15248,0,0,0,3472,0,0,0,5194,0,0,0,10606,0,0,0,316,0,0,0,68030,0,0,0,908,0,0,0,4830,0,0,0,2092,0,0 +17-43115727-TGC-T,17,43115727,rs1597911705,TGC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys44Ter,p.Cys44Ter,c.131_132del,frameshift_variant,Pathogenic/Likely pathogenic,803420,,1,1461134,6.843999249897683e-7,0,0,,,33.0,,0.0500,-0.0800,6.30,,,0,33466,0,0,0,44638,0,0,0,26102,0,0,1,39668,0,0,0,53380,0,0,0,5768,0,0,0,1111608,0,0,,,,,0,86130,0,0,0,60374,0,0 +17-43115727-T-G,17,43115727,rs769650474,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys45Gln,p.Lys45Gln,c.133A>C,missense_variant,Benign,183950,,39,1613246,0.000024174862358251623,0,0,nfe,0.00002075,29.7,0.573,0.0600,-0.0400,6.30,0.00,0.170,0,74886,0,0,0,59884,0,0,0,29574,0,0,0,44870,0,0,0,63982,0,0,0,6084,0,0,34,1179624,0,0,0,912,0,0,1,90966,0,0,4,62464,0,0 +17-43115729-C-A,17,43115729,rs80357446,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys44Phe,p.Cys44Phe,c.131G>T,missense_variant,Pathogenic,54200,,3,1461168,0.000002053151998948786,0,0,nfe,2.999999999999999e-7,25.1,0.933,0.00,0.00,8.83,0.0100,0.879,0,33468,0,0,0,44648,0,0,0,26096,0,0,0,39666,0,0,0,53374,0,0,1,5768,0,0,2,1111648,0,0,,,,,0,86130,0,0,0,60370,0,0 +17-43115732-A-G,17,43115732,rs1298544053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Phe43Ser,p.Phe43Ser,c.128T>C,missense_variant,Uncertain significance,441341,,1,628218,0.0000015918041189523383,0,0,,,27.5,0.847,0.00,0.00,6.28,0.00,0.760,1,17688,0,0,0,43674,0,0,0,20958,0,0,0,36042,0,0,0,53102,0,0,0,4148,0,0,0,349828,0,0,,,,,0,69702,0,0,0,33076,0,0 +17-43115734-T-C,17,43115734,rs2055246676,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile42Met,p.Ile42Met,c.126A>G,missense_variant,not provided,867509,,2,833086,0.000002400712531479343,0,0,nfe,4.4e-7,25.0,0.611,0.0100,0.00,2.86,0.00,0.942,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,2,761884,0,0,,,,,0,16460,0,0,0,27294,0,0 +17-43115735-AT-A,17,43115735,rs80357943,AT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile42TyrfsTer8,p.Ile42TyrfsTer8,c.124del,frameshift_variant,Pathogenic,54173,,1,628288,0.000001591626769888968,0,0,,,26.2,,0.0200,0.0100,6.28,,,0,17688,0,0,0,43682,0,0,0,20956,0,0,0,36042,0,0,0,53120,0,0,0,4148,0,0,0,349862,0,0,,,,,0,69710,0,0,1,33080,0,0 +17-43115736-T-C,17,43115736,rs80357163,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile42Val,p.Ile42Val,c.124A>G,missense_variant,Conflicting interpretations of pathogenicity,54172,,2,780406,0.000002562768610184955,0,0,,,24.0,0.481,0.0100,0.00,4.71,0.00,0.675,0,59116,0,0,1,58926,0,0,0,24428,0,0,0,41244,0,0,0,63714,0,0,0,4464,0,0,0,417892,0,0,0,912,0,0,1,74540,0,0,0,35170,0,0 +17-43115737-G-A,17,43115737,rs786202211,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.His41His,p.His41His,c.123C>T,synonymous_variant,Likely benign,185485,,1,628282,0.0000015916419696887704,0,0,,,8.98,,0.0100,-0.0200,2.72,,,0,17692,0,0,0,43684,0,0,0,20960,0,0,0,36042,0,0,0,53112,0,0,0,4148,0,0,1,349850,0,0,,,,,0,69714,0,0,0,33080,0,0 +17-43115742-C-T,17,43115742,rs879255290,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp40Asn,p.Asp40Asn,c.118G>A,missense_variant,Uncertain significance,252392,,1,628254,0.0000015917129059265838,0,0,,,27.7,0.509,0.0300,-0.0200,8.83,0.00,0.870,0,17686,0,0,0,43692,0,0,0,20960,0,0,0,36040,0,0,1,53120,0,0,0,4142,0,0,0,349854,0,0,,,,,0,69680,0,0,0,33080,0,0 +17-43115745-A-G,17,43115745,rs80357164,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys39Arg,p.Cys39Arg,c.115T>C,missense_variant,Pathogenic,54152,,1,628346,0.000001591479853456535,0,0,,,26.8,0.934,0.0100,0.00,6.28,0.00,0.879,0,17688,0,0,0,43692,0,0,0,20960,0,0,0,36044,0,0,0,53122,0,0,0,4146,0,0,1,349890,0,0,,,,,0,69726,0,0,0,33078,0,0 +17-43115746-C-T,17,43115746,rs1800062,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Lys38Lys,p.Lys38Lys,c.114G>A,synonymous_variant,Benign,54146,,3222,1613626,0.001996745218532671,89,0,eas,0.05192196000000002,6.31,,0.00,-0.0100,-0.367,,,23,75008,0,0,633,59926,4,0,0,29584,0,0,2409,44852,85,0,0,63980,0,0,1,6060,0,0,11,1179808,0,0,0,912,0,0,23,91014,0,0,122,62482,0,0 +17-43115747-T-C,17,43115747,rs2055251821,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Lys38Arg,p.Lys38Arg,c.113A>G,missense_variant,Uncertain significance,865132,,1,628346,0.000001591479853456535,0,0,,,22.9,0.550,0.100,0.0600,2.29,0.0600,0.871,0,17688,0,0,0,43690,0,0,0,20960,0,0,0,36042,0,0,0,53120,0,0,0,4148,0,0,0,349890,0,0,,,,,0,69728,0,0,1,33080,0,0 +17-43115749-T-A,17,43115749,rs1293537445,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr37Thr,p.Thr37Thr,c.111A>T,synonymous_variant,Likely benign,865127,,1,628356,0.0000015914545257783803,0,0,,,12.3,,0.0200,-0.0100,0.743,,,0,17682,0,0,0,43690,0,0,0,20960,0,0,1,36042,0,0,0,53122,0,0,0,4148,0,0,0,349900,0,0,,,,,0,69732,0,0,0,33080,0,0 +17-43115750-G-A,17,43115750,rs80356880,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Thr37Ile,p.Thr37Ile,c.110C>T,missense_variant,not provided,868148,,1,833090,0.0000012003505023466853,0,0,,,25.6,0.714,0.0100,-0.0100,8.72,0.00,0.716,1,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761884,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43115750-G-C,17,43115750,rs80356880,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Thr37Arg,p.Thr37Arg,c.110C>G,missense_variant,Pathogenic/Likely pathogenic,54132,,2,985252,0.00000202993751852318,0,0,,,24.9,0.802,0.0100,0.0100,8.72,0.00,0.917,2,57220,0,0,0,16240,0,0,0,8624,0,0,0,8830,0,0,0,10886,0,0,0,1936,0,0,0,829920,0,0,0,912,0,0,0,21296,0,0,0,29388,0,0 +17-43115753-G-T,17,43115753,rs183557525,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser36Tyr,p.Ser36Tyr,c.107C>A,missense_variant,Uncertain significance,219742,,1,833098,0.0000012003389757267452,0,0,,,25.7,0.922,0.00,0.00,8.72,0.00,0.961,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761892,0,0,,,,,0,16460,0,0,1,27298,0,0 +17-43115754-A-T,17,43115754,rs905812561,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser36Thr,p.Ser36Thr,c.106T>A,missense_variant,Conflicting interpretations of pathogenicity,489704,,1,628356,0.0000015914545257783803,0,0,,,24.7,0.605,0.00,0.00,6.28,0.00,0.877,0,17692,0,0,0,43686,0,0,0,20958,0,0,0,36040,0,0,0,53114,0,0,0,4148,0,0,1,349902,0,0,,,,,0,69736,0,0,0,33080,0,0 +17-43115756-A-C,17,43115756,rs1235706456,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val35Gly,p.Val35Gly,c.104T>G,missense_variant,not provided,867805,,1,628368,0.0000015914241336287016,0,0,,,25.6,0.817,0.00,-0.0100,6.28,0.00,0.939,0,17692,0,0,0,43686,0,0,0,20958,0,0,0,36040,0,0,0,53120,0,0,0,4148,0,0,0,349902,0,0,,,,,1,69740,0,0,0,33082,0,0 +17-43115757-CA-C,17,43115757,rs886039922,CA,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val35SerfsTer15,p.Val35SerfsTer15,c.102del,frameshift_variant,Pathogenic,266132,,1,833096,0.0000012003418573609765,0,0,,,23.9,,0.0100,0.0100,5.71,,,0,15786,0,0,0,984,0,0,0,5152,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761890,0,0,,,,,0,16460,0,0,0,27298,0,0 +17-43115759-G-C,17,43115759,rs786203319,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Arg,p.Pro34Arg,c.101C>G,missense_variant,Likely pathogenic,867486,,2,1461432,0.0000013685207385632722,0,0,nfe,2.999999999999999e-7,25.3,0.850,0.00,0.00,8.72,0.00,0.852,0,33476,0,0,0,44676,0,0,0,26106,0,0,0,39668,0,0,0,53394,0,0,0,5766,0,0,2,1111772,0,0,,,,,0,86198,0,0,0,60376,0,0 +17-43115759-G-A,17,43115759,rs786203319,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Leu,p.Pro34Leu,c.101C>T,missense_variant,Conflicting interpretations of pathogenicity,186913,,5,1461432,0.0000034213018464081804,0,0,nfe,0.0000013199999999999999,26.5,0.837,0.0100,-0.0100,8.72,0.00,0.191,0,33476,0,0,0,44676,0,0,0,26106,0,0,0,39668,0,0,0,53394,0,0,0,5766,0,0,5,1111772,0,0,,,,,0,86198,0,0,0,60376,0,0 +17-43115760-G-A,17,43115760,rs1064793357,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro34Ser,p.Pro34Ser,c.100C>T,missense_variant,Conflicting interpretations of pathogenicity,418671,,1,628312,0.0000015915659735927374,0,0,,,25.8,0.847,0.0100,-0.0200,8.72,0.00,0.903,0,17690,0,0,0,43692,0,0,0,20960,0,0,0,36040,0,0,0,53114,0,0,0,4148,0,0,1,349864,0,0,,,,,0,69732,0,0,0,33072,0,0 +17-43115762-T-G,17,43115762,rs876660844,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu33Ala,p.Glu33Ala,c.98A>C,missense_variant,Uncertain significance,234092,,1,628348,0.0000015914747878564107,0,0,,,27.6,0.708,0.0600,-0.0200,6.30,0.00,0.966,0,17690,0,0,0,43696,0,0,0,20960,0,0,0,36040,0,0,0,53116,0,0,0,4148,0,0,1,349882,0,0,,,,,0,69736,0,0,0,33080,0,0 +17-43115764-C-T,17,43115764,rs1597912013,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Lys32Lys,p.Lys32Lys,c.96G>A,synonymous_variant,Likely benign,868134,,1,152048,0.000006576870461959381,0,0,,,8.92,,0.0100,-0.0200,1.10,,,1,41402,0,0,0,15248,0,0,0,3470,0,0,0,5194,0,0,0,10588,0,0,0,316,0,0,0,68006,0,0,0,912,0,0,0,4828,0,0,0,2084,0,0 +17-43115767-G-T,17,43115767,rs80357000,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile31Ile,p.Ile31Ile,c.93C>A,synonymous_variant,Likely benign,867790,,2,628258,0.0000031834055435824137,0,0,,,10.9,,0.0400,-0.0200,3.37,,,0,17690,0,0,0,43698,0,0,0,20958,0,0,0,36040,0,0,0,53100,0,0,0,4146,0,0,1,349832,0,0,,,,,0,69724,0,0,1,33070,0,0 +17-43115767-G-C,17,43115767,rs80357000,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile31Met,p.Ile31Met,c.93C>G,missense_variant,Conflicting interpretations of pathogenicity,55760,,1,152056,0.000006576524438364813,0,0,,,23.7,0.564,0.00,0.00,3.37,,,0,41386,0,0,0,15250,0,0,0,3470,0,0,0,5196,0,0,0,10602,0,0,0,316,0,0,1,68016,0,0,0,912,0,0,0,4820,0,0,0,2088,0,0 +17-43115774-T-C,17,43115774,rs773841328,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu29Gly,p.Glu29Gly,c.86A>G,missense_variant,Conflicting interpretations of pathogenicity,231722,,3,1613172,0.000001859690101241529,0,0,nfe,6.800000000000001e-7,33.0,0.731,0.160,-0.0600,6.30,0.00,0.909,0,74848,0,0,0,59898,0,0,0,29574,0,0,0,44858,0,0,0,63946,0,0,0,6084,0,0,3,1179630,0,0,0,906,0,0,0,90980,0,0,0,62448,0,0 +17-43115778-G-A,17,43115778,rs1219301058,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu28Leu,p.Leu28Leu,c.82C>T,splice_region_variant,Likely benign,827566,,1,628014,0.0000015923211902919362,0,0,,,12.1,,0.00,0.00,1.17,,,1,17684,0,0,0,43664,0,0,0,20946,0,0,0,36036,0,0,0,53080,0,0,0,4146,0,0,0,349724,0,0,,,,,0,69680,0,0,0,33054,0,0 +17-43115779-A-G,17,43115779,rs587780805,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys27Cys,p.Cys27Cys,c.81T>C,splice_region_variant,Likely benign,136093,,3,1461092,0.0000020532587954762604,0,0,nfe,7.200000000000001e-7,15.4,,0.00,-0.0200,0.736,,,0,33468,0,0,0,44646,0,0,0,26098,0,0,0,39666,0,0,0,53370,0,0,0,5766,0,0,3,1111578,0,0,,,,,0,86144,0,0,0,60356,0,0 +17-43115780-C-T,17,43115780,rs80358018,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-1G>A,,c.81-1G>A,splice_acceptor_variant,Pathogenic/Likely pathogenic,91668,,1,628006,0.0000015923414744445118,0,0,,,33.0,,0.960,-0.860,8.82,,,0,17684,0,0,0,43652,0,0,0,20946,0,0,0,36034,0,0,0,53094,0,0,0,4148,0,0,1,349716,0,0,,,,,0,69678,0,0,0,33054,0,0 +17-43115783-G-A,17,43115783,rs1000484532,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-4C>T,,c.81-4C>T,splice_region_variant,Likely benign,795825,,1,627736,0.0000015930263677724393,0,0,,,7.22,,0.0100,-0.0100,2.17,,,0,17666,0,0,0,43612,0,0,0,20934,0,0,0,36030,0,0,0,53046,0,0,0,4142,0,0,1,349612,0,0,,,,,0,69646,0,0,0,33048,0,0 +17-43115785-A-G,17,43115785,rs80358179,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-6T>C,,c.81-6T>C,splice_region_variant,Conflicting interpretations of pathogenicity,37703,,71,1612614,0.00004402789508214613,1,0,nfe,0.00004538,0.267,,0.00,-0.0100,0.268,,,0,74896,0,0,0,59810,0,0,0,29556,0,0,0,44852,0,0,0,63934,0,0,0,6080,0,0,67,1179312,1,0,0,912,0,0,0,90840,0,0,4,62422,0,0 +17-43115788-G-C,17,43115788,rs80358127,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-9C>G,,c.81-9C>G,intron_variant,Pathogenic,55719,,1,626848,0.0000015952830670274133,0,0,,,23.3,,1.00,0.870,0.140,,,0,17628,0,0,0,43436,0,0,0,20916,0,0,1,36032,0,0,0,53006,0,0,0,4142,0,0,0,349344,0,0,,,,,0,69326,0,0,0,33018,0,0 +17-43115789-TA-T,17,43115789,rs273902788,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-11del,,c.81-11del,intron_variant,Benign,37699,,83,1611344,0.00005150979554955367,0,0,nfe,0.00004622,0.607,,0.00,0.00,-1.47,,,5,74746,0,0,3,59610,0,0,0,29538,0,0,3,44830,0,0,0,63830,0,0,1,6076,0,0,68,1178868,0,0,0,912,0,0,2,90550,0,0,1,62384,0,0 +17-43115789-T-G,17,43115789,rs548497799,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-10A>C,,c.81-10A>C,intron_variant,not provided,867453,,3,1611464,0.0000018616611975197708,0,0,sas,0.0000088,0.432,,0.00,0.00,-1.47,,,0,74868,0,0,0,59630,0,0,0,29538,0,0,0,44818,0,0,0,63830,0,0,0,6054,0,0,0,1178860,0,0,0,912,0,0,3,90548,0,0,0,62406,0,0 +17-43115789-T-C,17,43115789,rs548497799,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-10A>G,,c.81-10A>G,intron_variant,not provided,867454,,1,1459422,6.852027720563346e-7,0,0,,,0.615,,0.0100,0.00,-1.47,,,0,33400,0,0,0,44382,0,0,0,26070,0,0,0,39642,0,0,0,53260,0,0,0,5760,0,0,1,1110876,0,0,,,,,0,85734,0,0,0,60298,0,0 +17-43115790-A-G,17,43115790,rs767144634,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-11T>C,,c.81-11T>C,intron_variant,Likely benign,632617,,2,1458596,0.0000013711816020337365,0,0,nfe,2.999999999999999e-7,1.78,,0.0100,0.00,-0.193,,,0,33356,0,0,0,44340,0,0,0,26056,0,0,0,39634,0,0,0,53222,0,0,0,5758,0,0,2,1110290,0,0,,,,,0,85672,0,0,0,60268,0,0 +17-43115790-A-AG,17,43115790,rs273902789,A,AG,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-12dup,,c.81-12dup,intron_variant,Benign/Likely benign,125523,,29,1610606,0.00001800564508017479,0,0,afr,0.000017480000000000002,1.03,,0.00,0.00,-0.193,,,4,74786,0,0,2,59578,0,0,0,29524,0,0,1,44830,0,0,5,63786,0,0,0,6074,0,0,14,1178276,0,0,0,912,0,0,2,90484,0,0,1,62356,0,0 +17-43115790-AG-A,17,43115790,rs273902789,AG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-12del,,c.81-12del,intron_variant,Benign/Likely benign,91667,,9,1458538,0.00000617056257704633,0,0,nfe,0.00000381,1.04,,0.00,0.00,-0.193,,,0,33354,0,0,0,44338,0,0,0,26050,0,0,0,39632,0,0,0,53216,0,0,0,5758,0,0,9,1110256,0,0,,,,,0,85670,0,0,0,60264,0,0 +17-43115791-G-C,17,43115791,rs80358055,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-12C>G,,c.81-12C>G,intron_variant,Benign/Likely benign,91666,,191,1607290,0.00011883356457142147,0,0,afr,0.0019435699999999995,2.43,,0.0100,-0.0200,0.359,,,166,74786,0,0,13,59460,0,0,0,29454,0,0,0,44752,0,0,0,63620,0,0,0,6042,0,0,0,1175802,0,0,0,912,0,0,0,90240,0,0,12,62222,0,0 +17-43115792-G-A,17,43115792,rs56328013,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-13C>T,,c.81-13C>T,intron_variant,Conflicting interpretations of pathogenicity,415599,,4,1458650,0.0000027422616803208445,0,0,,,1.73,,0.00,0.00,-0.369,,,0,33380,0,0,1,44298,0,0,0,26060,0,0,1,39630,0,0,0,53216,0,0,1,5756,0,0,0,1110428,0,0,,,,,1,85626,0,0,0,60256,0,0 +17-43115792-G-C,17,43115792,rs56328013,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-13C>G,,c.81-13C>G,intron_variant,Benign,37701,,271,1610802,0.0001682391752679721,2,0,afr,0.002669070000000001,4.46,,0.00,-0.0400,-0.369,,,224,74902,2,0,16,59558,0,0,0,29526,0,0,0,44816,0,0,0,63794,0,0,1,6050,0,0,10,1178438,0,0,0,912,0,0,4,90446,0,0,16,62360,0,0 +17-43115792-G-T,17,43115792,rs56328013,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-13C>A,,c.81-13C>A,intron_variant,Benign/Likely benign,37700,,60,1610800,0.00003724857213806804,0,0,afr,0.0005198600000000002,3.23,,0.0100,-0.0200,-0.369,,,50,74900,0,0,4,59558,0,0,0,29526,0,0,0,44816,0,0,0,63794,0,0,0,6050,0,0,4,1178438,0,0,0,912,0,0,1,90446,0,0,1,62360,0,0 +17-43115793-G-T,17,43115793,rs80358006,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>A,,c.81-14C>A,intron_variant,Likely benign,792545,,2,1610524,0.0000012418318510000472,0,0,,,0.592,,0.0200,-0.0200,-5.25,,,1,74764,0,0,0,59534,0,0,0,29524,0,0,0,44822,0,0,0,63786,0,0,0,6074,0,0,0,1178340,0,0,0,910,0,0,1,90424,0,0,0,62346,0,0 +17-43115793-G-A,17,43115793,rs80358006,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>T,,c.81-14C>T,intron_variant,Benign,37702,,1064,1610512,0.0006606594672998401,2,0,nfe,0.00077949,0.244,,0.00,0.00,-5.25,,,6,74764,0,0,39,59534,0,0,1,29524,0,0,0,44822,0,0,8,63786,0,0,0,6074,0,0,970,1178330,2,0,0,910,0,0,0,90424,0,0,40,62344,0,0 +17-43115793-G-C,17,43115793,rs80358006,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-14C>G,,c.81-14C>G,intron_variant,Likely benign,225762,,11,1610524,0.0000068300751805002596,0,0,amr,0.000054719999999999984,0.485,,0.0100,-0.0300,-5.25,,,0,74764,0,0,7,59534,0,0,0,29524,0,0,0,44822,0,0,0,63786,0,0,1,6074,0,0,0,1178340,0,0,0,910,0,0,3,90424,0,0,0,62346,0,0 +17-43115795-G-T,17,43115795,rs1057520829,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-16C>A,,c.81-16C>A,intron_variant,Likely benign,380343,,2,1456400,0.0000013732491073880802,0,0,,,0.126,,0.0300,-0.0200,-1.12,,,0,33292,0,0,0,44100,0,0,0,26010,0,0,1,39608,0,0,0,53118,0,0,0,5760,0,0,1,1108918,0,0,,,,,0,85378,0,0,0,60216,0,0 +17-43115796-G-C,17,43115796,rs757442952,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-17C>G,,c.81-17C>G,intron_variant,Conflicting interpretations of pathogenicity,215877,,27,1607824,0.000016792882803092876,0,0,amr,0.00032113000000000025,0.0380,,0.0400,-0.0300,-1.12,,,0,74612,0,0,27,59208,0,0,0,29462,0,0,0,44798,0,0,0,63684,0,0,0,6060,0,0,0,1176738,0,0,0,912,0,0,0,90068,0,0,0,62282,0,0 +17-43115797-G-A,17,43115797,rs864622534,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-18C>T,,c.81-18C>T,intron_variant,Likely benign,868767,,2,1455846,0.000001373771676399839,0,0,,,0.00700,,0.00,0.00,-0.123,,,0,33248,0,0,0,44032,0,0,0,26010,0,0,1,39586,0,0,0,53096,0,0,0,5758,0,0,1,1108628,0,0,,,,,0,85318,0,0,0,60170,0,0 +17-43115798-A-T,17,43115798,rs1567818131,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-19T>A,,c.81-19T>A,intron_variant,not provided,867759,,1,623652,0.0000016034583389454375,0,0,,,2.64,,0.0700,-0.0200,-0.144,,,0,17486,0,0,0,42926,0,0,0,20838,0,0,0,35988,0,0,0,52786,0,0,0,4140,0,0,0,347824,0,0,,,,,1,68786,0,0,0,32878,0,0 +17-43115799-G-A,17,43115799,rs80358039,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-20C>T,,c.81-20C>T,intron_variant,Conflicting interpretations of pathogenicity,125525,,3,1453816,0.000002063534862733661,0,0,nfe,7.200000000000001e-7,0.114,,0.00,0.00,0.0680,,,0,33208,0,0,0,43860,0,0,0,25980,0,0,0,39580,0,0,0,53042,0,0,0,5754,0,0,3,1107166,0,0,,,,,0,85122,0,0,0,60104,0,0 +17-43115804-A-C,17,43115804,rs775851068,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-25T>G,,c.81-25T>G,intron_variant,,,,1,1451470,6.889567128497317e-7,0,0,,,0.918,,0.0400,-0.0200,1.24,,,0,33158,0,0,0,43950,0,0,0,25956,0,0,0,39564,0,0,0,52978,0,0,0,5752,0,0,1,1105078,0,0,,,,,0,85008,0,0,0,60026,0,0 +17-43115805-G-T,17,43115805,rs781513700,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-26C>A,,c.81-26C>A,intron_variant,,,,8,1596890,0.000005009737677610856,0,0,amr,0.000055239999999999986,0.344,,0.0300,-0.0100,-0.644,,,0,74384,0,0,7,58898,0,0,0,29336,0,0,0,44656,0,0,0,63408,0,0,0,6064,0,0,1,1167882,0,0,0,912,0,0,0,89408,0,0,0,61942,0,0 +17-43115806-A-G,17,43115806,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-27T>C,,c.81-27T>C,intron_variant,,,,1,824712,0.0000012125445003831641,0,0,,,6.21,,0.0200,-0.0100,1.80,,,0,15596,0,0,0,970,0,0,0,5084,0,0,0,3588,0,0,0,272,0,0,0,1614,0,0,1,754234,0,0,,,,,0,16288,0,0,0,27066,0,0 +17-43115809-A-G,17,43115809,rs746061260,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-30T>C,,c.81-30T>C,intron_variant,,,,6,1442538,0.000004159335837253507,0,0,sas,0.000023260000000000004,8.22,,0.00,-0.0100,2.01,,,0,32938,0,0,0,43834,0,0,0,25862,0,0,0,39440,0,0,0,52722,0,0,0,5726,0,0,1,1097612,0,0,,,,,5,84644,0,0,0,59760,0,0 +17-43115815-G-A,17,43115815,rs2154565987,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-36C>T,,c.81-36C>T,intron_variant,,,,1,1426652,7.009417853828404e-7,0,0,,,0.00200,,0.00,0.00,-3.36,,,0,32440,0,0,0,43182,0,0,0,25680,0,0,0,39108,0,0,0,52176,0,0,0,5696,0,0,1,1085568,0,0,,,,,0,83644,0,0,0,59158,0,0 +17-43115818-G-C,17,43115818,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-39C>G,,c.81-39C>G,intron_variant,,,,1,1415626,7.064012670013125e-7,0,0,,,0.251,,0.00,0.00,0.392,,,0,32106,0,0,0,42650,0,0,0,25550,0,0,0,38842,0,0,0,51744,0,0,0,5670,0,0,0,1077384,0,0,,,,,0,82918,0,0,1,58762,0,0 +17-43115819-C-T,17,43115819,rs756327180,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-40G>A,,c.81-40G>A,intron_variant,,,,2,1414820,0.0000014136073846849775,0,0,,,0.266,,0.00,0.00,-0.705,,,0,32050,0,0,0,42466,0,0,0,25542,0,0,0,38750,0,0,0,51698,0,0,0,5658,0,0,1,1077108,0,0,,,,,1,82822,0,0,0,58726,0,0 +17-43115820-T-A,17,43115820,rs2154565998,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-41A>T,,c.81-41A>T,intron_variant,,,,3,1402342,0.000002139278435645513,0,0,nfe,7.5e-7,5.50,,0.00,0.00,0.112,,,0,31748,0,0,0,42220,0,0,0,25456,0,0,0,38580,0,0,0,51506,0,0,0,5632,0,0,3,1066568,0,0,,,,,0,82374,0,0,0,58258,0,0 +17-43115823-A-G,17,43115823,rs1369514666,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-44T>C,,c.81-44T>C,intron_variant,,,,2,602400,0.0000033200531208499336,0,0,,,2.05,,0.00,0.00,-0.629,,,0,16564,0,0,0,40878,0,0,2,20456,0,0,0,34862,0,0,0,50964,0,0,0,4078,0,0,0,336356,0,0,,,,,0,66248,0,0,0,31994,0,0 +17-43115827-T-C,17,43115827,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-48A>G,,c.81-48A>G,intron_variant,,,,1,807042,0.0000012390928848808365,0,0,,,6.88,,0.00,0.00,0.364,,,0,15238,0,0,0,946,0,0,0,4986,0,0,1,3490,0,0,0,272,0,0,0,1564,0,0,0,738154,0,0,,,,,0,15904,0,0,0,26488,0,0 +17-43115828-T-G,17,43115828,rs2055270926,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-49A>C,,c.81-49A>C,intron_variant,,,,1,1400880,7.138370167323397e-7,0,0,,,12.3,,0.0100,0.00,0.858,,,1,31468,0,0,0,40890,0,0,0,25330,0,0,0,37766,0,0,0,50472,0,0,0,5590,0,0,0,1069844,0,0,,,,,0,81358,0,0,0,58162,0,0 +17-43115831-T-A,17,43115831,rs2154566014,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-52A>T,,c.81-52A>T,intron_variant,,,,1,590072,0.0000016947084423595765,0,0,,,9.00,,0.00,0.00,0.888,,,0,16124,0,0,0,39258,0,0,0,20284,0,0,0,33984,0,0,0,49728,0,0,0,4004,0,0,0,330126,0,0,,,,,1,65056,0,0,0,31508,0,0 +17-43115834-A-G,17,43115834,rs763395672,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-55T>C,,c.81-55T>C,intron_variant,,,,121,1529986,0.00007908569098017891,0,0,amr,0.00056462,7.14,,0.00,0.00,0.0100,,,3,72422,0,0,41,54964,0,0,40,28596,0,0,0,42292,0,0,0,60106,0,0,1,5816,0,0,31,1120294,0,0,0,912,0,0,1,85172,0,0,4,59412,0,0 +17-43115834-A-T,17,43115834,rs763395672,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-55T>A,,c.81-55T>A,intron_variant,,,,1,1377776,7.258073881385654e-7,0,0,,,6.68,,0.00,0.00,0.0100,,,0,30966,0,0,0,39698,0,0,0,25130,0,0,0,37092,0,0,0,49480,0,0,0,5500,0,0,1,1052254,0,0,,,,,0,80336,0,0,0,57320,0,0 +17-43115836-A-G,17,43115836,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-57T>C,,c.81-57T>C,intron_variant,,,,1,581228,0.0000017204952273462394,0,0,,,10.3,,0.00,0.00,1.49,,,0,15922,0,0,0,38144,0,0,0,20194,0,0,0,33360,0,0,0,48526,0,0,0,3922,0,0,1,325624,0,0,,,,,0,64328,0,0,0,31208,0,0 +17-43115839-T-C,17,43115839,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-60A>G,,c.81-60A>G,intron_variant,,,,3,578234,0.000005188211001082607,0,0,sas,0.00000517,4.58,,0.00,0.00,-0.0180,,,0,15850,0,0,0,37688,0,0,0,20148,0,0,1,33188,0,0,0,48048,0,0,0,3860,0,0,0,324248,0,0,,,,,2,64128,0,0,0,31076,0,0 +17-43115840-AAAGCT-A,17,43115840,rs1361097879,AAAGCT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-66_81-62del,,c.81-66_81-62del,intron_variant,,,,33,728680,0.000045287368941098973,0,0,,,4.60,,0.00,0.00,0.669,,,0,57228,0,0,0,52644,0,0,0,23556,0,0,0,38328,0,0,32,58504,0,0,0,4142,0,0,1,391526,0,0,0,910,0,0,0,68752,0,0,0,33090,0,0 +17-43115843-G-T,17,43115843,rs1037984680,G,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-64C>A,,c.81-64C>A,intron_variant,,,,14,721764,0.000019396921985579773,0,0,amr,0.00016397999999999999,0.359,,0.00,0.00,-1.35,,,0,57046,0,0,14,51542,0,0,0,23450,0,0,0,37982,0,0,0,57294,0,0,0,4014,0,0,0,388502,0,0,0,912,0,0,0,68206,0,0,0,32816,0,0 +17-43115844-C-A,17,43115844,rs80358117,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-65G>T,,c.81-65G>T,intron_variant,,,,1,1348644,7.414855217537022e-7,0,0,,,0.499,,0.00,0.00,-0.298,,,0,30236,0,0,0,37228,0,0,0,24818,0,0,0,36148,0,0,1,46956,0,0,0,5204,0,0,0,1033074,0,0,,,,,0,78744,0,0,0,56236,0,0 +17-43115844-C-G,17,43115844,rs80358117,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.81-65G>C,,c.81-65G>C,intron_variant,Benign,125526,,557,1500732,0.0003711522110543388,0,0,nfe,0.00044403,0.545,,0.00,0.00,-0.298,,,3,71656,0,0,5,52486,0,0,1,28290,0,0,0,41340,0,0,0,57536,0,0,0,5520,0,0,527,1101104,0,0,0,908,0,0,1,83568,0,0,20,58324,0,0 +17-43115848-T-G,17,43115848,rs2055272081,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-69A>C,,c.81-69A>C,intron_variant,,,,1,563842,0.0000017735464899741417,0,0,,,3.63,,0.00,0.00,-0.0780,,,0,15482,0,0,0,35520,0,0,0,19886,0,0,0,32530,0,0,0,45568,0,0,0,3558,0,0,0,317944,0,0,,,,,1,62846,0,0,0,30508,0,0 +17-43115848-T-C,17,43115848,rs2055272081,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.81-69A>G,,c.81-69A>G,intron_variant,,,,1,152182,0.0000065710793654965765,0,0,,,3.86,,0.00,0.00,-0.0780,,,0,41444,0,0,0,15260,0,0,0,3468,0,0,0,5196,0,0,0,10614,0,0,0,316,0,0,1,68048,0,0,0,910,0,0,0,4834,0,0,0,2092,0,0 +17-43115851-T-C,17,43115851,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.81-72A>G,,c.81-72A>G,intron_variant,,,,1,1323602,7.55514119803385e-7,0,0,,,4.27,,0.00,0.00,0.808,,,0,29612,0,0,0,36154,0,0,0,24590,0,0,0,35670,0,0,0,45272,0,0,0,4994,0,0,1,1014300,0,0,,,,,0,77618,0,0,0,55392,0,0 +17-43123945-G-C,17,43123945,,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+72C>G,,c.80+72C>G,intron_variant,,,,5,1060120,0.000004716447194657209,0,0,nfe,0.00000196,0.878,,0.00,0.00,-0.0150,,,0,25360,0,0,0,43614,0,0,0,23564,0,0,0,37644,0,0,0,52936,0,0,0,4944,0,0,5,747422,0,0,,,,,0,77544,0,0,0,47092,0,0 +17-43123945-G-A,17,43123945,rs2055707234,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+72C>T,,c.80+72C>T,intron_variant,,,,1,1060120,9.432894389314417e-7,0,0,,,1.04,,0.00,0.00,-0.0150,,,0,25360,0,0,0,43614,0,0,0,23564,0,0,0,37644,0,0,0,52936,0,0,0,4944,0,0,1,747422,0,0,,,,,0,77544,0,0,0,47092,0,0 +17-43123947-T-C,17,43123947,rs2154576208,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+70A>G,,c.80+70A>G,intron_variant,,,,1,1075962,9.294008524464618e-7,0,0,,,14.6,,0.00,0.00,0.636,,,0,25708,0,0,0,43708,0,0,0,23684,0,0,0,37770,0,0,0,53004,0,0,0,4974,0,0,0,761592,0,0,,,,,0,77940,0,0,1,47582,0,0 +17-43123948-C-T,17,43123948,rs2154576211,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+69G>A,,c.80+69G>A,intron_variant,,,,3,1092024,0.0000027471923693984747,0,0,nfe,0.00000103,10.1,,0.00,0.00,2.56,,,0,26024,0,0,0,43752,0,0,0,23776,0,0,0,37834,0,0,0,53014,0,0,0,5004,0,0,3,776352,0,0,,,,,0,78136,0,0,0,48132,0,0 +17-43123950-A-G,17,43123950,rs2055707384,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+67T>C,,c.80+67T>C,intron_variant,,,,12,1269420,0.00000945313607789384,0,0,nfe,0.00000488,7.41,,0.00,0.00,-1.34,,,2,67966,0,0,0,59184,0,0,0,27390,0,0,0,43166,0,0,0,63708,0,0,0,5376,0,0,9,867152,0,0,0,912,0,0,1,83586,0,0,0,50980,0,0 +17-43123953-C-T,17,43123953,rs1261539033,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+64G>A,,c.80+64G>A,intron_variant,,,,2,1132764,0.0000017655928331055719,0,0,sas,0.0000042,14.8,,0.00,0.00,2.22,,,0,26776,0,0,0,43972,0,0,0,24010,0,0,0,38054,0,0,0,53092,0,0,0,5096,0,0,0,813292,0,0,,,,,2,79062,0,0,0,49410,0,0 +17-43123956-T-C,17,43123956,rs2154576244,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+61A>G,,c.80+61A>G,intron_variant,,,,2,1165168,0.0000017164906691567224,0,0,,,9.98,,0.00,-0.0100,0.115,,,0,27396,0,0,0,44118,0,0,0,24308,0,0,0,38244,0,0,0,53148,0,0,1,5162,0,0,0,842350,0,0,,,,,1,79888,0,0,0,50554,0,0 +17-43123958-C-T,17,43123958,rs2055707661,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+59G>A,,c.80+59G>A,intron_variant,,,,2,1180652,0.0000016939792589179539,0,0,nfe,3.900000000000001e-7,13.2,,0.00,0.00,1.83,,,0,27796,0,0,0,44140,0,0,0,24400,0,0,0,38294,0,0,0,53154,0,0,0,5192,0,0,2,856364,0,0,,,,,0,80172,0,0,0,51140,0,0 +17-43123959-A-G,17,43123959,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+58T>C,,c.80+58T>C,intron_variant,,,,1,569164,0.0000017569628437497803,0,0,,,13.1,,0.00,-0.0100,0.652,,,0,10456,0,0,0,636,0,0,0,3586,0,0,0,2436,0,0,0,186,0,0,0,1116,0,0,1,521086,0,0,,,,,0,10958,0,0,0,18704,0,0 +17-43123960-T-C,17,43123960,rs2055707821,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.80+57A>G,,c.80+57A>G,intron_variant,,,,1,152254,0.000006567971941623865,0,0,,,11.8,,0.00,0.00,0.409,,,0,41472,0,0,0,15284,0,0,0,3472,0,0,0,5202,0,0,0,10622,0,0,0,316,0,0,1,68044,0,0,0,912,0,0,0,4836,0,0,0,2094,0,0 +17-43123963-G-T,17,43123963,rs778400582,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+54C>A,,c.80+54C>A,intron_variant,,,,2,578162,0.000003459238068223093,0,0,nfe,6.300000000000001e-7,8.00,,0.00,0.00,0.495,,,0,10566,0,0,0,652,0,0,0,3634,0,0,0,2468,0,0,0,188,0,0,0,1140,0,0,2,529404,0,0,,,,,0,11148,0,0,0,18962,0,0 +17-43123965-A-G,17,43123965,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+52T>C,,c.80+52T>C,intron_variant,,,,1,627114,0.0000015946064033014732,0,0,,,7.59,,0.00,-0.0100,-0.267,,,0,17630,0,0,0,43652,0,0,0,20926,0,0,0,35966,0,0,0,53048,0,0,0,4110,0,0,0,349136,0,0,,,,,0,69642,0,0,1,33004,0,0 +17-43123966-T-C,17,43123966,rs180905862,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+51A>G,,c.80+51A>G,intron_variant,Likely benign,1325680,,125,1380264,0.0000905623851668956,0,0,afr,0.0012377,10.3,,0.00,0.00,-1.11,,,103,70190,0,0,10,59654,0,0,0,28176,0,0,1,43734,0,0,0,63886,0,0,0,5588,0,0,2,967344,0,0,0,912,0,0,0,86064,0,0,9,54716,0,0 +17-43123967-A-G,17,43123967,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+50T>C,,c.80+50T>C,intron_variant,,,,3,1235098,0.000002428957054419973,0,0,nfe,3.7000000000000006e-7,4.45,,0.00,-0.0100,0.0680,,,0,28758,0,0,0,44376,0,0,0,24742,0,0,0,38578,0,0,0,53256,0,0,1,5318,0,0,2,905770,0,0,,,,,0,81394,0,0,0,52906,0,0 +17-43123969-G-A,17,43123969,rs200513210,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+48C>T,,c.80+48C>T,intron_variant,Likely benign,2179197,,27,1400082,0.000019284584760035482,0,0,eas,0.0002646000000000002,3.46,,0.00,0.00,-0.651,,,0,70558,0,0,0,59706,0,0,0,28260,0,0,18,43814,0,0,0,63856,0,0,0,5640,0,0,3,985456,0,0,0,912,0,0,5,86488,0,0,1,55392,0,0 +17-43123970-A-C,17,43123970,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+47T>G,,c.80+47T>G,intron_variant,,,,1,623846,0.0000016029597047989408,0,0,,,5.83,,0.0100,-0.0100,0.938,,,0,11458,0,0,0,728,0,0,0,3870,0,0,0,2676,0,0,0,202,0,0,0,1236,0,0,0,571230,0,0,,,,,1,12066,0,0,0,20380,0,0 +17-43123971-G-C,17,43123971,rs2055708596,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+46C>G,,c.80+46C>G,intron_variant,,,,1,646268,0.000001547345683215013,0,0,,,0.0720,,0.00,0.00,-1.34,,,0,11908,0,0,0,750,0,0,0,4010,0,0,0,2762,0,0,0,214,0,0,0,1270,0,0,0,591756,0,0,,,,,1,12520,0,0,0,21078,0,0 +17-43123971-G-T,17,43123971,rs2055708596,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+46C>A,,c.80+46C>A,intron_variant,,,,1,646264,0.0000015473552603889433,0,0,,,0.0670,,0.00,0.00,-1.34,,,0,11908,0,0,0,750,0,0,0,4010,0,0,0,2762,0,0,0,214,0,0,0,1270,0,0,1,591754,0,0,,,,,0,12518,0,0,0,21078,0,0 +17-43123973-T-A,17,43123973,rs2154576304,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+44A>T,,c.80+44A>T,intron_variant,,,,1,627770,0.000001592940089523233,0,0,,,0.969,,0.00,0.00,-0.235,,,0,17660,0,0,0,43708,0,0,0,20940,0,0,0,35984,0,0,0,53078,0,0,0,4128,0,0,0,349506,0,0,,,,,0,69724,0,0,1,33042,0,0 +17-43123979-T-C,17,43123979,rs768583394,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+38A>G,,c.80+38A>G,intron_variant,,,,8,1345198,0.000005947079909425973,0,0,nfe,0.0000034200000000000003,0.191,,0.00,0.00,-2.75,,,0,30930,0,0,0,44538,0,0,0,25416,0,0,0,39068,0,0,0,53340,0,0,0,5536,0,0,8,1006214,0,0,,,,,0,83708,0,0,0,56448,0,0 +17-43123979-T-G,17,43123979,rs768583394,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+38A>C,,c.80+38A>C,intron_variant,,,,3,1345198,0.00000223015496603474,0,0,nfe,7.899999999999998e-7,0.168,,0.0100,-0.0100,-2.75,,,0,30930,0,0,0,44538,0,0,0,25416,0,0,0,39068,0,0,0,53340,0,0,0,5536,0,0,3,1006214,0,0,,,,,0,83708,0,0,0,56448,0,0 +17-43123980-A-G,17,43123980,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+37T>C,,c.80+37T>C,intron_variant,,,,1,718418,0.0000013919473064427672,0,0,,,9.54,,0.0100,-0.0100,0.618,,,0,13326,0,0,0,822,0,0,0,4472,0,0,0,3094,0,0,0,248,0,0,0,1404,0,0,1,657624,0,0,,,,,0,13974,0,0,0,23454,0,0 +17-43123986-C-A,17,43123986,rs2154576342,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+31G>T,,c.80+31G>T,intron_variant,,,,1,1388858,7.200160131561326e-7,0,0,,,3.53,,0.00,0.00,-0.460,,,0,31852,0,0,0,44600,0,0,0,25688,0,0,1,39342,0,0,0,53384,0,0,0,5620,0,0,0,1045922,0,0,,,,,0,84576,0,0,0,57874,0,0 +17-43123988-C-A,17,43123988,rs528170710,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+29G>T,,c.80+29G>T,intron_variant,,,,3,1557818,0.0000019257705328863832,0,0,amr,0.00001329,2.31,,0.00,0.00,-0.183,,,0,73728,0,0,3,59920,0,0,0,29252,0,0,0,44600,0,0,0,63994,0,0,0,5950,0,0,0,1129136,0,0,0,912,0,0,0,89714,0,0,0,60612,0,0 +17-43123989-AAATT-A,17,43123989,,AAATT,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+24_80+27del,,c.80+24_80+27del,intron_variant,,,,1,782942,0.0000012772338180861419,0,0,,,5.13,,0.00,-0.0100,0.834,,,0,14644,0,0,0,906,0,0,0,4850,0,0,0,3412,0,0,0,264,0,0,0,1532,0,0,1,716438,0,0,,,,,0,15264,0,0,0,25632,0,0 +17-43123990-A-G,17,43123990,rs1213255171,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+27T>C,,c.80+27T>C,intron_variant,,,,1,628314,0.000001591560907444367,0,0,,,7.40,,0.0100,-0.0100,0.396,,,0,17680,0,0,0,43730,0,0,0,20972,0,0,0,36018,0,0,0,53126,0,0,0,4140,0,0,0,349808,0,0,,,,,1,69774,0,0,0,33066,0,0 +17-43123994-A-G,17,43123994,rs1447426729,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.80+23T>C,,c.80+23T>C,intron_variant,,,,1,152248,0.000006568230781356734,0,0,,,9.23,,0.0100,-0.0100,1.99,,,0,41476,0,0,0,15284,0,0,0,3470,0,0,1,5204,0,0,0,10624,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4828,0,0,0,2094,0,0 +17-43123996-TAC-T,17,43123996,rs2154576389,TAC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+19_80+20del,,c.80+19_80+20del,intron_variant,Likely benign,1616520,,1,800176,0.000001249725060486693,0,0,,,8.26,,0.00,0.00,1.21,,,0,15014,0,0,0,938,0,0,0,4948,0,0,0,3492,0,0,0,270,0,0,0,1578,0,0,1,732082,0,0,,,,,0,15692,0,0,0,26162,0,0 +17-43123996-T-C,17,43123996,rs2055709837,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+21A>G,,c.80+21A>G,intron_variant,,,,2,952548,0.0000020996317245955057,0,0,,,5.80,,0.00,0.00,1.21,,,0,56606,0,0,0,16242,0,0,0,8418,0,0,0,8688,0,0,0,10896,0,0,0,1872,0,0,0,800114,0,0,0,912,0,0,0,20522,0,0,2,28278,0,0 +17-43124000-C-G,17,43124000,rs540373654,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+17G>C,,c.80+17G>C,intron_variant,Likely benign,1118479,,1,1440588,6.941609953713345e-7,0,0,,,0.0660,,0.00,0.00,-0.0240,,,0,32980,0,0,0,44676,0,0,0,25994,0,0,0,39564,0,0,0,53402,0,0,0,5724,0,0,1,1092858,0,0,,,,,0,85750,0,0,0,59640,0,0 +17-43124000-C-T,17,43124000,rs540373654,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+17G>A,,c.80+17G>A,intron_variant,Likely benign,220318,,7,1592898,0.000004394506114013578,0,0,amr,0.00004285999999999998,0.0820,,0.00,0.00,-0.0240,,,0,74546,0,0,6,59970,0,0,0,29466,0,0,0,44756,0,0,0,64016,0,0,0,6018,0,0,0,1160880,0,0,0,912,0,0,1,90578,0,0,0,61756,0,0 +17-43124001-T-G,17,43124001,,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+16A>C,,c.80+16A>C,intron_variant,,,,2,1442362,0.0000013866144560103496,0,0,nfe,2.999999999999999e-7,3.56,,0.00,0.00,0.324,,,0,33018,0,0,0,44682,0,0,0,26012,0,0,0,39564,0,0,0,53404,0,0,0,5730,0,0,2,1094444,0,0,,,,,0,85794,0,0,0,59714,0,0 +17-43124001-T-C,17,43124001,rs747618610,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+16A>G,,c.80+16A>G,intron_variant,Likely benign,491188,,17,1442362,0.000011786222876087972,0,0,sas,0.00011607999999999999,3.93,,0.0100,0.00,0.324,,,0,33018,0,0,0,44682,0,0,0,26012,0,0,0,39564,0,0,0,53404,0,0,0,5730,0,0,0,1094444,0,0,,,,,16,85794,0,0,1,59714,0,0 +17-43124002-C-G,17,43124002,rs771594437,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+15G>C,,c.80+15G>C,intron_variant,Likely benign,462690,,2,628380,0.0000031827874852796078,0,0,nfe,9.5e-7,2.29,,0.00,0.00,1.24,,,0,17680,0,0,0,43728,0,0,0,20974,0,0,0,36022,0,0,0,53130,0,0,0,4136,0,0,2,349866,0,0,,,,,0,69782,0,0,0,33062,0,0 +17-43124003-T-C,17,43124003,rs1555600851,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+14A>G,,c.80+14A>G,intron_variant,Likely benign,462689,,1,1444544,6.922599796198662e-7,0,0,,,3.56,,0.0200,-0.0300,-0.00700,,,0,33078,0,0,0,44690,0,0,0,26024,0,0,0,39574,0,0,0,53404,0,0,0,5732,0,0,1,1096404,0,0,,,,,0,85842,0,0,0,59796,0,0 +17-43124007-G-T,17,43124007,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+10C>A,,c.80+10C>A,intron_variant,,,,1,1449558,6.898654624375154e-7,0,0,,,1.64,,0.0100,-0.0100,0.0940,,,0,33188,0,0,0,44706,0,0,0,26062,0,0,0,39600,0,0,0,53402,0,0,0,5744,0,0,1,1100876,0,0,,,,,0,85990,0,0,0,59990,0,0 +17-43124009-T-C,17,43124009,rs1567823093,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+8A>G,,c.80+8A>G,splice_region_variant,,,,1,824498,0.0000012128592185790626,0,0,,,9.25,,0.00,0.00,1.41,,,0,15568,0,0,0,974,0,0,0,5096,0,0,0,3592,0,0,0,276,0,0,0,1606,0,0,1,754084,0,0,,,,,0,16280,0,0,0,27022,0,0 +17-43124010-G-A,17,43124010,rs80358098,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.80+7C>T,,c.80+7C>T,splice_region_variant,Conflicting interpretations of pathogenicity,125521,,3,1605640,0.0000018684138412097356,0,0,amr,0.00000553,7.48,,0.0100,-0.0100,0.327,,,0,74714,0,0,2,59972,0,0,0,29544,0,0,0,44810,0,0,0,64018,0,0,0,6060,0,0,0,1172520,0,0,0,912,0,0,0,90894,0,0,1,62196,0,0 +17-43124010-G-T,17,43124010,rs80358098,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+7C>A,,c.80+7C>A,splice_region_variant,Conflicting interpretations of pathogenicity,91665,,1,1453486,6.880011228178324e-7,0,0,,,6.58,,0.00,0.0100,0.327,,,0,33282,0,0,0,44706,0,0,0,26072,0,0,0,39616,0,0,0,53410,0,0,0,5744,0,0,1,1104484,0,0,,,,,0,86064,0,0,0,60108,0,0 +17-43124014-T-TA,17,43124014,rs397509324,T,TA,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.80+2dup,,c.80+2dup,splice_region_variant,Uncertain significance,55711,,1,1456376,6.866358687591666e-7,0,0,,,23.8,,0.900,-0.880,1.88,,,0,33310,0,0,0,44712,0,0,0,26084,0,0,0,39628,0,0,0,53410,0,0,0,5744,0,0,0,1107144,0,0,,,,,1,86140,0,0,0,60204,0,0 +17-43124016-CCAGATGGGACA-C,17,43124016,rs80357696,CCAGATGGGACA,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Cys24SerfsTer13,p.Cys24SerfsTer13,c.70_80del,frameshift_variant,Pathogenic,55676,,2,980696,0.0000020393679590821214,0,0,,,27.3,,0.990,-0.930,8.90,,,0,57088,0,0,0,16258,0,0,0,8588,0,0,0,8804,0,0,0,10880,0,0,0,1924,0,0,2,825810,0,0,0,912,0,0,0,21180,0,0,0,29252,0,0 +17-43124017-C-A,17,43124017,rs1064793052,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Cys27Phe,p.Cys27Phe,c.80G>T,missense_variant,Likely pathogenic,481469,,1,1457536,6.860894001932028e-7,0,0,,,35.0,0.957,0.740,-0.610,8.90,0.00,0.972,0,33356,0,0,0,44712,0,0,0,26100,0,0,0,39628,0,0,0,53410,0,0,0,5750,0,0,1,1108174,0,0,,,,,0,86156,0,0,0,60250,0,0 +17-43124019-G-A,17,43124019,rs1555600862,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile26Ile,p.Ile26Ile,c.78C>T,splice_region_variant,Likely benign,491187,,1,829808,0.0000012050980467770858,0,0,,,16.7,,0.0500,-0.0700,0.888,,,0,15694,0,0,0,978,0,0,0,5132,0,0,0,3614,0,0,0,276,0,0,0,1612,0,0,1,758908,0,0,,,,,0,16390,0,0,0,27204,0,0 +17-43124020-A-G,17,43124020,rs879255496,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile26Thr,p.Ile26Thr,c.77T>C,missense_variant,Uncertain significance,856169,,2,1458680,0.0000013711026407436862,0,0,nfe,2.999999999999999e-7,26.6,0.807,0.00,-0.0200,6.33,0.00,0.877,0,33388,0,0,0,44714,0,0,0,26108,0,0,0,39642,0,0,0,53414,0,0,0,5750,0,0,2,1109196,0,0,,,,,0,86188,0,0,0,60280,0,0 +17-43124022-G-A,17,43124022,rs80356839,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Pro25Pro,p.Pro25Pro,c.75C>T,synonymous_variant,Likely benign,55691,,96,1610856,0.000059595643558455876,3,0,eas,0.0003317300000000003,9.53,,0.00,0.00,-0.307,,,0,74808,0,0,2,59992,0,0,0,29578,0,0,22,44844,1,0,0,64016,0,0,0,6070,0,0,2,1177242,0,0,0,912,0,0,0,91022,0,0,70,62372,2,0 +17-43124023-G-A,17,43124023,rs876660096,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro25Leu,p.Pro25Leu,c.74C>T,missense_variant,Conflicting interpretations of pathogenicity,232955,,1,628452,0.0000015912114210790959,0,0,,,27.3,0.844,0.00,0.00,8.79,0.00,0.113,1,17682,0,0,0,43736,0,0,0,20972,0,0,0,36020,0,0,0,53132,0,0,0,4138,0,0,0,349916,0,0,,,,,0,69788,0,0,0,33068,0,0 +17-43124024-G-T,17,43124024,rs397509313,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Pro25Thr,p.Pro25Thr,c.73C>A,missense_variant,Uncertain significance,55684,,1,831116,0.0000012032014784939767,0,0,,,25.7,0.818,0.0100,0.00,8.79,0.00,0.932,0,15734,0,0,0,982,0,0,0,5140,0,0,0,3624,0,0,0,276,0,0,0,1620,0,0,0,760080,0,0,,,,,1,16422,0,0,0,27238,0,0 +17-43124027-ACT-A,17,43124027,rs80357914,ACT,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu23ValfsTer17,p.Glu23ValfsTer17,c.68_69del,frameshift_variant,Pathogenic,17662,,191,1612084,0.00011848017845223947,0,0,nfe,0.00002478,28.5,,0.00,0.0100,6.33,,,0,74854,0,0,3,59996,0,0,123,29578,0,0,0,44844,0,0,0,64018,0,0,1,6078,0,0,39,1178366,0,0,0,912,0,0,5,91044,0,0,20,62394,0,0 +17-43124028-C-T,17,43124028,rs766004110,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Glu23Glu,p.Glu23Glu,c.69G>A,synonymous_variant,Likely benign,381467,,2,780384,0.000002562840857834092,0,0,,,10.6,,0.0100,-0.0100,1.32,,,0,59126,0,0,0,59016,0,0,0,24226,0,0,0,41218,0,0,0,63756,0,0,0,4456,0,0,0,417930,0,0,0,912,0,0,2,74608,0,0,0,35136,0,0 +17-43124029-T-G,17,43124029,rs1597923307,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23Ala,p.Glu23Ala,c.68A>C,missense_variant,Uncertain significance,826690,,1,831890,0.0000012020820060344516,0,0,,,27.5,0.793,0.0100,-0.0100,6.36,0.00,0.444,0,15766,0,0,0,982,0,0,0,5108,0,0,0,3626,0,0,0,276,0,0,0,1620,0,0,1,760846,0,0,,,,,0,16432,0,0,0,27234,0,0 +17-43124030-C-CT,17,43124030,rs80357783,C,CT,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23ArgfsTer18,p.Glu23ArgfsTer18,c.66dup,frameshift_variant,Pathogenic,37691,,2,1460784,0.0000013691278108193956,0,0,nfe,2.999999999999999e-7,28.0,,0.00,0.0100,8.90,,,0,33460,0,0,0,44718,0,0,0,26114,0,0,0,39646,0,0,0,53412,0,0,0,5762,0,0,2,1111104,0,0,,,,,0,86234,0,0,0,60334,0,0 +17-43124030-C-G,17,43124030,rs372047427,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu23Gln,p.Glu23Gln,c.67G>C,missense_variant,Conflicting interpretations of pathogenicity,441390,,1,1460784,6.845639054096978e-7,0,0,,,25.6,0.681,0.00,0.00,8.90,0.00,0.0910,0,33460,0,0,0,44718,0,0,0,26114,0,0,0,39646,0,0,0,53412,0,0,0,5762,0,0,1,1111104,0,0,,,,,0,86234,0,0,0,60334,0,0 +17-43124036-T-C,17,43124036,rs80357406,T,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ile21Val,p.Ile21Val,c.61A>G,missense_variant,Conflicting interpretations of pathogenicity,55648,,2,152206,0.000013140086461768918,0,0,afr,0.000008,18.6,0.611,0.0200,-0.0100,2.37,,,2,41456,0,0,0,15282,0,0,0,3472,0,0,0,5200,0,0,0,10616,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4830,0,0,0,2090,0,0 +17-43124043-C-T,17,43124043,rs1597923450,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Met18Ile,p.Met18Ile,c.54G>A,missense_variant,Uncertain significance,825781,,2,780712,0.0000025617641332527233,0,0,,,25.7,0.678,0.0300,-0.0300,8.90,0.00,0.164,1,59128,0,0,0,59014,0,0,0,24442,0,0,1,41224,0,0,0,63744,0,0,0,4458,0,0,0,418002,0,0,0,912,0,0,0,74624,0,0,0,35164,0,0 +17-43124044-A-G,17,43124044,rs80356929,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met18Thr,p.Met18Thr,c.53T>C,missense_variant,Pathogenic,37664,,7,832856,0.00000840481427761822,0,0,nfe,0.00000382,25.4,0.770,0.00,0.00,6.33,0.00,0.344,0,15786,0,0,0,984,0,0,0,5148,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,7,761674,0,0,,,,,0,16452,0,0,0,27286,0,0 +17-43124046-A-T,17,43124046,rs2055727513,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala17Ala,p.Ala17Ala,c.51T>A,synonymous_variant,not provided,869099,,2,1461434,0.0000013685188657168233,0,0,nfe,2.999999999999999e-7,13.8,,0.00,0.00,1.02,,,0,33474,0,0,0,44720,0,0,0,26120,0,0,0,39650,0,0,0,53416,0,0,0,5760,0,0,2,1111686,0,0,,,,,0,86248,0,0,0,60360,0,0 +17-43124046-A-C,17,43124046,rs2055727513,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala17Ala,p.Ala17Ala,c.51T>G,synonymous_variant,not provided,865040,,1,1461434,6.842594328584116e-7,0,0,,,13.8,,0.00,0.00,1.02,,,0,33474,0,0,0,44720,0,0,0,26120,0,0,0,39650,0,0,0,53416,0,0,0,5760,0,0,1,1111686,0,0,,,,,0,86248,0,0,0,60360,0,0 +17-43124053-A-G,17,43124053,rs80357316,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile15Thr,p.Ile15Thr,c.44T>C,missense_variant,Uncertain significance,55217,,1,832998,0.0000012004830743891341,0,0,,,23.7,0.594,0.00,0.00,6.33,0.00,0.0190,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761806,0,0,,,,,0,16454,0,0,0,27292,0,0 +17-43124054-T-G,17,43124054,rs80357031,T,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Ile15Leu,p.Ile15Leu,c.43A>C,missense_variant,Conflicting interpretations of pathogenicity,55192,,5,1613814,0.0000030982504799189995,0,0,afr,0.00000443,15.4,0.446,0.0100,0.00,4.13,1.00,0.00,2,74944,0,0,0,60012,0,0,0,29590,0,0,0,44854,0,0,0,64032,0,0,0,6080,0,0,3,1179844,0,0,0,912,0,0,0,91084,0,0,0,62462,0,0 +17-43124054-T-C,17,43124054,rs80357031,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ile15Val,p.Ile15Val,c.43A>G,missense_variant,Conflicting interpretations of pathogenicity,865035,,8,1461558,0.000005473611036989295,0,0,nfe,0.0000031,21.7,0.436,0.0200,0.00,4.13,0.00,0.00100,0,33474,0,0,0,44722,0,0,0,26118,0,0,0,39650,0,0,0,53414,0,0,0,5764,0,0,8,1111798,0,0,,,,,0,86250,0,0,0,60368,0,0 +17-43124055-G-A,17,43124055,rs80356827,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Val,p.Val14Val,c.42C>T,synonymous_variant,Likely benign,156194,,24,1461536,0.00001642108028813522,0,0,nfe,0.00001377,11.8,,0.0400,-0.0600,1.66,,,0,33472,0,0,0,44722,0,0,0,26120,0,0,0,39650,0,0,0,53414,0,0,0,5758,0,0,23,1111790,0,0,,,,,0,86242,0,0,1,60368,0,0 +17-43124056-A-T,17,43124056,rs2055732014,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Asp,p.Val14Asp,c.41T>A,missense_variant,not provided,865031,,1,628564,0.0000015909278927841874,0,0,,,27.4,0.694,0.00,0.00,4.72,0.00,0.840,0,17688,0,0,0,43738,0,0,0,20972,0,0,0,36018,0,0,1,53140,0,0,0,4144,0,0,0,349992,0,0,,,,,0,69794,0,0,0,33078,0,0 +17-43124057-C-G,17,43124057,rs2055732548,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Leu,p.Val14Leu,c.40G>C,missense_variant,not provided,869093,,1,832996,0.0000012004859567152783,0,0,,,23.9,0.600,0.00,-0.0100,3.00,0.00,0.675,0,15786,0,0,0,984,0,0,0,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,1,761798,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43124057-C-A,17,43124057,rs2055732548,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val14Phe,p.Val14Phe,c.40G>T,missense_variant,Uncertain significance,848933,,1,832996,0.0000012004859567152783,0,0,,,24.5,0.607,0.0100,-0.0400,3.00,0.00,0.942,0,15786,0,0,0,984,0,0,1,5150,0,0,0,3630,0,0,0,276,0,0,0,1620,0,0,0,761798,0,0,,,,,0,16458,0,0,0,27294,0,0 +17-43124058-A-T,17,43124058,rs2055733269,A,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asn13Lys,p.Asn13Lys,c.39T>A,missense_variant,not provided,869089,,2,985232,0.0000020299787258229533,0,0,,,24.8,0.551,0.00,0.00,1.97,0.00,0.275,0,57244,0,0,0,16270,0,0,0,8620,0,0,0,8834,0,0,0,10890,0,0,0,1936,0,0,1,829854,0,0,0,912,0,0,1,21290,0,0,0,29382,0,0 +17-43124061-T-C,17,43124061,rs763230080,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Gln,p.Gln12Gln,c.36A>G,synonymous_variant,Likely benign,230602,,27,1461582,0.00001847313390558997,1,0,sas,0.00021111,9.89,,0.0200,0.00,0.492,,,0,33474,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5764,0,0,0,1111814,0,0,,,,,26,86250,1,0,1,60370,0,0 +17-43124062-T-C,17,43124062,rs1555601006,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Arg,p.Gln12Arg,c.35A>G,missense_variant,Conflicting interpretations of pathogenicity,441517,,1,628568,0.0000015909177686423745,0,0,,,25.8,0.577,0.0200,0.0100,3.74,0.0100,0.527,0,17688,0,0,0,43740,0,0,0,20972,0,0,0,36016,0,0,0,53138,0,0,0,4144,0,0,0,349998,0,0,,,,,0,69794,0,0,1,33078,0,0 +17-43124062-T-G,17,43124062,rs1555601006,T,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Gln12Pro,p.Gln12Pro,c.35A>C,missense_variant,Uncertain significance,867703,,1,152256,0.000006567885666246322,0,0,,,26.2,0.674,0.0100,0.00,3.74,,,0,41472,0,0,0,15294,0,0,0,3472,0,0,0,5208,0,0,0,10630,0,0,0,316,0,0,1,68028,0,0,0,912,0,0,0,4834,0,0,0,2090,0,0 +17-43124063-G-A,17,43124063,rs80357134,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Gln12Ter,p.Gln12Ter,c.34C>T,stop_gained,Pathogenic,54902,,3,1613790,0.0000018589779339319243,0,0,,,37.0,,0.120,-0.400,7.02,,,0,75010,0,0,0,60004,0,0,0,29594,0,0,1,44838,0,0,0,64014,0,0,0,6054,0,0,1,1179800,0,0,0,912,0,0,1,91080,0,0,0,62484,0,0 +17-43124063-G-T,17,43124063,rs80357134,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Gln12Lys,p.Gln12Lys,c.34C>A,missense_variant,Uncertain significance,867702,,1,1461546,6.842069972481195e-7,0,0,,,24.0,0.564,0.0200,-0.0400,7.02,0.110,0.275,0,33472,0,0,0,44720,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5762,0,0,1,1111786,0,0,,,,,0,86252,0,0,0,60368,0,0 +17-43124066-C-G,17,43124066,rs1555601019,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Val11Leu,p.Val11Leu,c.31G>C,missense_variant,Uncertain significance,438922,,2,1461544,0.0000013684158670556617,0,0,nfe,2.999999999999999e-7,24.8,0.677,0.0200,0.00,3.56,0.00,0.621,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53414,0,0,0,5756,0,0,2,1111788,0,0,,,,,0,86250,0,0,0,60370,0,0 +17-43124067-T-A,17,43124067,rs2055737161,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu10Asp,p.Glu10Asp,c.30A>T,missense_variant,not provided,865019,,1,1461534,6.842126149648246e-7,0,0,,,23.1,0.602,0.00,-0.0100,2.37,0.270,0.643,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5760,0,0,1,1111768,0,0,,,,,0,86252,0,0,0,60372,0,0 +17-43124067-T-C,17,43124067,rs2055737161,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Glu10Glu,p.Glu10Glu,c.30A>G,synonymous_variant,not provided,865018,,2,1461534,0.0000013684252299296492,0,0,sas,0.00000385,14.8,,0.140,-0.130,2.37,,,0,33472,0,0,0,44724,0,0,0,26122,0,0,0,39648,0,0,0,53416,0,0,0,5760,0,0,0,1111768,0,0,,,,,2,86252,0,0,0,60372,0,0 +17-43124068-TCTTCAACGC-T,17,43124068,rs80359887,TCTTCAACGC,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7_Glu10delinsGln,p.Arg7_Glu10delinsGln,c.20_28del,inframe_deletion,Uncertain significance,125492,,1,628558,0.000001590943079238511,0,0,,,18.1,,0.420,-0.450,6.29,,,0,17688,0,0,0,43740,0,0,0,20972,0,0,0,36016,0,0,0,53140,0,0,0,4140,0,0,1,349994,0,0,,,,,0,69792,0,0,0,33076,0,0 +17-43124075-C-T,17,43124075,rs528902306,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Val8Ile,p.Val8Ile,c.22G>A,missense_variant,Conflicting interpretations of pathogenicity,243118,,4,985062,0.000004060658110860027,0,0,afr,0.00001388,0.228,0.499,0.00,-0.0300,0.365,0.920,0.00500,3,57342,0,0,0,16276,0,0,0,8622,0,0,0,8818,0,0,0,10874,0,0,0,1912,0,0,1,829624,0,0,0,912,0,0,0,21280,0,0,0,29402,0,0 +17-43124076-G-A,17,43124076,rs149402012,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7Arg,p.Arg7Arg,c.21C>T,synonymous_variant,Benign,136537,,494,1613436,0.0003061788629979745,2,0,afr,0.0054515300000000004,0.233,,0.0200,-0.0400,-2.85,,,443,75006,2,0,17,60018,0,0,0,29592,0,0,0,44836,0,0,0,64002,0,0,0,6048,0,0,7,1179462,0,0,0,912,0,0,0,91080,0,0,27,62480,0,0 +17-43124077-C-T,17,43124077,rs144792613,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7His,p.Arg7His,c.20G>A,missense_variant,Conflicting interpretations of pathogenicity,184875,,9,1613318,0.000005578565416117591,0,0,amr,0.00006616999999999998,0.00900,0.532,0.0400,-0.0800,-2.32,0.480,0.00,0,74844,0,0,8,59982,0,0,0,29594,0,0,0,44844,0,0,0,64006,0,0,0,6070,0,0,0,1179546,0,0,0,912,0,0,0,91076,0,0,1,62444,0,0 +17-43124077-C-A,17,43124077,rs144792613,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7Leu,p.Arg7Leu,c.20G>T,missense_variant,Likely benign,820717,,1,1461262,6.843399746246738e-7,0,0,,,0.853,0.594,0.0700,-0.120,-2.32,0.0500,0.00300,0,33468,0,0,0,44724,0,0,0,26122,0,0,0,39642,0,0,0,53412,0,0,0,5754,0,0,1,1111538,0,0,,,,,0,86246,0,0,0,60356,0,0 +17-43124078-G-T,17,43124078,rs80356994,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Arg7Ser,p.Arg7Ser,c.19C>A,missense_variant,Uncertain significance,531388,,2,1461166,0.0000013687698728275911,0,0,sas,0.00000385,19.1,0.503,0.150,-0.290,4.85,0.160,0.0660,0,33464,0,0,0,44724,0,0,0,26122,0,0,0,39646,0,0,0,53412,0,0,0,5758,0,0,0,1111432,0,0,,,,,2,86246,0,0,0,60362,0,0 +17-43124078-G-A,17,43124078,rs80356994,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Arg7Cys,p.Arg7Cys,c.19C>T,missense_variant,Conflicting interpretations of pathogenicity,37440,,35,1613308,0.000021694555534343102,0,0,nfe,0.00001884,24.4,0.558,0.150,-0.220,4.85,0.0100,0.446,0,74890,0,0,0,59992,0,0,0,29594,0,0,1,44850,0,0,0,64016,0,0,1,6074,0,0,31,1179452,0,0,0,912,0,0,1,91076,0,0,1,62452,0,0 +17-43124081-G-A,17,43124081,rs1315262605,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu6Phe,p.Leu6Phe,c.16C>T,missense_variant,Conflicting interpretations of pathogenicity,658584,,3,1613408,0.0000018594180765187726,0,0,nfe,6.800000000000001e-7,17.7,0.446,0.0700,-0.0900,2.11,0.0100,0.0130,0,74906,0,0,0,60006,0,0,0,29592,0,0,0,44844,0,0,0,64022,0,0,0,6072,0,0,3,1179524,0,0,0,912,0,0,0,91074,0,0,0,62456,0,0 +17-43124082-A-G,17,43124082,rs1339036647,A,G,gnomAD Genomes,NA,PASS,ENST00000357654.9,p.Ala5Ala,p.Ala5Ala,c.15T>C,synonymous_variant,Likely benign,701597,,1,152250,0.000006568144499178982,0,0,,,2.60,,0.0200,-0.0100,-1.10,,,0,41466,0,0,0,15290,0,0,0,3472,0,0,1,5204,0,0,0,10622,0,0,0,316,0,0,0,68040,0,0,0,912,0,0,0,4836,0,0,0,2092,0,0 +17-43124083-G-A,17,43124083,rs1335137805,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ala5Val,p.Ala5Val,c.14C>T,missense_variant,Conflicting interpretations of pathogenicity,576432,,2,1460940,0.0000013689816145769162,0,0,,,4.32,0.535,0.0400,-0.0500,-0.590,0.520,0.00500,0,33452,0,0,0,44724,0,0,0,26122,0,0,0,39642,0,0,0,53408,0,0,0,5750,0,0,1,1111254,0,0,,,,,1,86236,0,0,0,60352,0,0 +17-43124086-G-A,17,43124086,rs786203152,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser4Phe,p.Ser4Phe,c.11C>T,missense_variant,Uncertain significance,186697,,2,628518,0.000003182088659354227,0,0,nfe,9.5e-7,24.2,0.630,0.0600,-0.0300,5.85,0.00,0.990,0,17682,0,0,0,43738,0,0,0,20974,0,0,0,36016,0,0,0,53126,0,0,0,4122,0,0,2,349992,0,0,,,,,0,69792,0,0,0,33076,0,0 +17-43124087-A-G,17,43124087,rs876658707,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Ser4Pro,p.Ser4Pro,c.10T>C,missense_variant,Conflicting interpretations of pathogenicity,230684,,1,1460846,6.845348517229057e-7,0,0,,,12.8,0.526,0.0200,0.0100,0.478,0.100,0.274,0,33456,0,0,0,44724,0,0,0,26126,0,0,0,39638,0,0,0,53404,0,0,0,5748,0,0,1,1111156,0,0,,,,,0,86244,0,0,0,60350,0,0 +17-43124088-T-C,17,43124088,rs780157871,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Leu3Leu,p.Leu3Leu,c.9A>G,synonymous_variant,Likely benign,757889,,3,780766,0.000003842380431524938,0,0,,,7.73,,0.0200,0.00,0.0990,,,0,59154,0,0,0,59028,0,0,0,24446,0,0,1,41214,0,0,0,63760,0,0,0,4436,0,0,2,418012,0,0,0,912,0,0,0,74630,0,0,0,35174,0,0 +17-43124089-A-G,17,43124089,rs397509332,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Leu3Ser,p.Leu3Ser,c.8T>C,missense_variant,Uncertain significance,869066,,1,628520,0.0000015910392668491059,0,0,,,23.6,0.548,0.00,0.0100,2.89,0.100,0.521,0,17684,0,0,0,43740,0,0,0,20974,0,0,0,36010,0,0,1,53132,0,0,0,4122,0,0,0,349988,0,0,,,,,0,69792,0,0,0,33078,0,0 +17-43124091-A-G,17,43124091,rs754763517,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,p.Asp2Asp,p.Asp2Asp,c.6T>C,synonymous_variant,Likely benign,415555,,3,780744,0.000003842488703083213,0,0,afr,0.00001346,11.4,,0.00,0.00,1.78,,,3,59148,0,0,0,59022,0,0,0,24444,0,0,0,41218,0,0,0,63750,0,0,0,4430,0,0,0,418030,0,0,0,912,0,0,0,74624,0,0,0,35166,0,0 +17-43124093-C-T,17,43124093,rs778775133,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Asp2Asn,p.Asp2Asn,c.4G>A,missense_variant,not provided,868680,,3,628468,0.000004773512732549629,0,0,nfe,9.5e-7,26.4,0.534,0.0700,-0.0900,5.00,0.00,0.994,0,17684,0,0,0,43738,0,0,0,20974,0,0,0,36014,0,0,0,53122,0,0,0,4114,0,0,2,349968,0,0,,,,,1,69786,0,0,0,33068,0,0 +17-43124094-C-A,17,43124094,rs80357475,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1?,p.Met1?,c.3G>T,start_lost,Pathogenic,55072,,1,831408,0.000001202778900371418,0,0,,,25.4,0.696,0.0800,-0.0800,8.72,0.00,0.878,0,15766,0,0,0,984,0,0,0,5148,0,0,0,3622,0,0,0,276,0,0,0,1620,0,0,1,760334,0,0,,,,,0,16416,0,0,0,27242,0,0 +17-43124096-T-C,17,43124096,rs80357287,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,p.Met1?,p.Met1?,c.1A>G,start_lost,Pathogenic,54432,,3,830648,0.0000036116381427512013,0,0,nfe,4.4e-7,24.2,0.696,0.0500,0.0200,6.23,0.00,0.878,0,15736,0,0,0,984,0,0,0,5144,0,0,0,3626,0,0,0,276,0,0,0,1618,0,0,2,759638,0,0,,,,,0,16404,0,0,1,27222,0,0 +17-43124097-T-G,17,43124097,rs587781565,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-1A>C,,c.-1A>C,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,141194,,2,1458834,0.0000013709579019957035,0,0,nfe,2.999999999999999e-7,16.5,,0.00,0.00,2.88,,,0,33410,0,0,0,44720,0,0,0,26116,0,0,0,39636,0,0,0,53398,0,0,0,5718,0,0,2,1109368,0,0,,,,,0,86180,0,0,0,60288,0,0 +17-43124097-T-C,17,43124097,rs587781565,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-1A>G,,c.-1A>G,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,487486,,7,1458834,0.000004798352656984962,0,0,nfe,0.00000195,16.9,,0.0200,-0.0100,2.88,,,0,33410,0,0,0,44720,0,0,0,26116,0,0,0,39636,0,0,0,53398,0,0,0,5718,0,0,6,1109368,0,0,,,,,1,86180,0,0,0,60288,0,0 +17-43124099-C-A,17,43124099,rs273900720,C,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-3G>T,,c.-3G>T,5_prime_UTR_variant,Uncertain significance,441382,,1,829876,0.0000012049993011004054,0,0,,,16.7,,0.150,-0.420,1.22,,,0,15708,0,0,0,982,0,0,0,5130,0,0,0,3626,0,0,0,276,0,0,0,1612,0,0,1,758932,0,0,,,,,0,16402,0,0,0,27208,0,0 +17-43124103-C-T,17,43124103,rs1567823538,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-7G>A,,c.-7G>A,5_prime_UTR_variant,Likely benign,868665,,1,828362,0.0000012072016823562646,0,0,,,14.3,,0.00,-0.0500,3.44,,,0,15670,0,0,0,980,0,0,0,5128,0,0,0,3626,0,0,0,276,0,0,0,1608,0,0,1,757542,0,0,,,,,0,16368,0,0,0,27164,0,0 +17-43124104-T-A,17,43124104,rs2055749162,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-8A>T,,c.-8A>T,5_prime_UTR_variant,not provided,868664,,1,628360,0.000001591444394932841,0,0,,,15.4,,0.00,-0.0100,0.990,,,0,17678,0,0,0,43732,0,0,0,20974,0,0,0,36010,0,0,1,53108,0,0,0,4094,0,0,0,349930,0,0,,,,,0,69768,0,0,0,33066,0,0 +17-43124105-G-C,17,43124105,rs1555601059,G,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-9C>G,,c.-9C>G,5_prime_UTR_variant,Likely benign,433682,,2,1454460,0.0000013750807859961773,0,0,sas,0.00000386,14.0,,0.0300,0.0100,2.84,,,0,33294,0,0,0,44708,0,0,0,26092,0,0,0,39616,0,0,0,53376,0,0,0,5696,0,0,0,1105434,0,0,,,,,2,86088,0,0,0,60156,0,0 +17-43124105-G-A,17,43124105,rs1555601059,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-9C>T,,c.-9C>T,5_prime_UTR_variant,not provided,867661,,1,1454460,6.875403929980886e-7,0,0,,,16.5,,0.160,-0.360,2.84,,,0,33294,0,0,0,44708,0,0,0,26092,0,0,0,39616,0,0,0,53376,0,0,0,5696,0,0,1,1105434,0,0,,,,,0,86088,0,0,0,60156,0,0 +17-43124106-T-G,17,43124106,rs748057929,T,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-10A>C,,c.-10A>C,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,507346,,15,1454208,0.000010314893055188804,0,0,sas,0.00009811,14.4,,0.00,0.00,0.531,,,0,33302,0,0,0,44710,0,0,0,26086,0,0,0,39612,0,0,0,53390,0,0,0,5684,0,0,0,1105212,0,0,,,,,14,86074,0,0,1,60138,0,0 +17-43124108-C-G,17,43124108,rs772037778,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-12G>C,,c.-12G>C,5_prime_UTR_variant,not provided,864961,,1,628236,0.000001591758511132759,0,0,,,14.4,,0.120,0.0800,2.76,,,0,17674,0,0,0,43728,0,0,0,20970,0,0,0,35998,0,0,0,53108,0,0,0,4072,0,0,1,349866,0,0,,,,,0,69758,0,0,0,33062,0,0 +17-43124109-C-T,17,43124109,rs431825383,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-13G>A,,c.-13G>A,5_prime_UTR_variant,Likely benign,96892,,1,1445936,6.915935421761406e-7,0,0,,,9.43,,0.140,0.130,0.981,,,0,33102,0,0,0,44692,0,0,0,26024,0,0,0,39560,0,0,0,53366,0,0,0,5654,0,0,1,1097754,0,0,,,,,0,85892,0,0,0,59892,0,0 +17-43124111-A-G,17,43124111,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-15T>C,,c.-15T>C,5_prime_UTR_variant,Uncertain significance,2099706,,1,1442910,6.930439181930959e-7,0,0,,,3.04,,0.00,0.00,-0.0960,,,0,33020,0,0,0,44696,0,0,0,25990,0,0,0,39534,0,0,0,53384,0,0,0,5638,0,0,1,1094976,0,0,,,,,0,85838,0,0,0,59834,0,0 +17-43124112-T-A,17,43124112,rs777262055,T,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-16A>T,,c.-16A>T,5_prime_UTR_variant,not provided,869032,,1,1443160,6.929238615260955e-7,0,0,,,12.7,,0.240,0.180,0.924,,,0,33024,0,0,0,44700,0,0,0,26002,0,0,0,39526,0,0,0,53380,0,0,0,5636,0,0,0,1095214,0,0,,,,,1,85848,0,0,0,59830,0,0 +17-43124112-T-C,17,43124112,rs777262055,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-16A>G,,c.-16A>G,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,380340,,33,1595374,0.000020684804942289395,0,0,afr,0.00005305999999999998,11.4,,0.00,-0.0100,0.924,,,8,74478,0,0,2,59980,0,0,0,29470,0,0,0,44732,0,0,0,63988,0,0,0,5952,0,0,23,1163256,0,0,0,912,0,0,0,90686,0,0,0,61920,0,0 +17-43124113-G-A,17,43124113,rs1597923857,G,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-17C>T,,c.-17C>T,splice_region_variant,Likely benign,766447,,1,1428028,7.002663813314585e-7,0,0,,,3.34,,0.140,0.100,0.119,,,0,32664,0,0,0,44684,0,0,0,25916,0,0,0,39460,0,0,0,53356,0,0,0,5602,0,0,1,1081516,0,0,,,,,0,85512,0,0,0,59318,0,0 +17-43124116-C-T,17,43124116,rs569074958,C,T,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-1G>A,,c.-19-1G>A,splice_acceptor_variant,Uncertain significance,371947,lc_lof,1,152286,0.000006566591807520061,0,0,,,23.0,,0.910,-0.850,1.52,,,1,41554,0,0,0,15288,0,0,0,3470,0,0,0,5194,0,0,0,10598,0,0,0,294,0,0,0,68026,0,0,0,912,0,0,0,4834,0,0,0,2116,0,0 +17-43124118-T-C,17,43124118,rs273898669,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-3A>G,,c.-19-3A>G,splice_region_variant,Benign,125471,,46,1537558,0.000029917570589207042,1,0,eas,0.0005431600000000001,22.9,,0.960,0.860,1.20,,,0,73392,0,0,0,59884,0,0,0,29120,0,0,33,44416,0,0,0,63904,0,0,0,5722,0,0,0,1110888,0,0,0,912,0,0,12,89366,1,0,1,59954,0,0 +17-43124121-A-G,17,43124121,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-6T>C,,c.-19-6T>C,splice_region_variant,,,,1,735402,0.0000013598004900720967,0,0,,,8.05,,0.0400,-0.130,5.90,,,0,13666,0,0,0,854,0,0,0,4574,0,0,0,3164,0,0,0,248,0,0,0,1432,0,0,1,672942,0,0,,,,,0,14398,0,0,0,24124,0,0 +17-43124122-C-T,17,43124122,rs1415813169,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-7G>A,,c.-19-7G>A,splice_region_variant,Conflicting interpretations of pathogenicity,510565,,4,777760,0.000005142974696564493,0,0,eas,0.00003269,0.133,,0.00,0.00,-0.584,,,0,58938,0,0,0,58920,0,0,0,24402,0,0,4,41078,0,0,0,63552,0,0,0,4190,0,0,0,416456,0,0,0,912,0,0,0,74332,0,0,0,34980,0,0 +17-43124122-C-G,17,43124122,rs1415813169,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-7G>C,,c.-19-7G>C,splice_region_variant,,,,2,625622,0.000003196818526202723,0,0,sas,0.00000478,0.106,,0.00,0.00,-0.584,,,0,17522,0,0,0,43644,0,0,0,20932,0,0,0,35876,0,0,0,52958,0,0,0,3874,0,0,0,348428,0,0,,,,,2,69500,0,0,0,32888,0,0 +17-43124124-C-G,17,43124124,rs776177740,C,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-9G>C,,c.-19-9G>C,intron_variant,Likely benign,385189,,7,1338836,0.0000052284223011631,0,0,sas,0.000038829999999999986,2.44,,0.00,0.00,-0.0470,,,0,30644,0,0,0,44358,0,0,0,25368,0,0,0,38820,0,0,0,53106,0,0,0,5186,0,0,0,1001788,0,0,,,,,7,83334,0,0,0,56232,0,0 +17-43124124-C-T,17,43124124,rs776177740,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-9G>A,,c.-19-9G>A,intron_variant,Likely benign,2059424,,2,1338836,0.0000014938349431894571,0,0,sas,0.00000398,2.94,,0.0300,-0.0600,-0.0470,,,0,30644,0,0,0,44358,0,0,0,25368,0,0,0,38820,0,0,0,53106,0,0,0,5186,0,0,0,1001788,0,0,,,,,2,83334,0,0,0,56232,0,0 +17-43124125-A-G,17,43124125,rs201866997,A,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-10T>C,,c.-19-10T>C,intron_variant,Benign/Likely benign,125467,,36,1478326,0.00002435186826180423,0,0,afr,0.00012784,7.78,,0.0600,0.130,2.80,,,15,71906,0,0,1,59630,0,0,0,28746,0,0,6,43900,0,0,0,63676,0,0,0,5418,0,0,1,1058404,0,0,0,912,0,0,0,87826,0,0,13,57908,0,0 +17-43124134-A-G,17,43124134,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-19T>C,,c.-19-19T>C,intron_variant,,,,1,608948,0.0000016421763434644667,0,0,,,2.20,,0.0600,-0.0800,1.29,,,0,16180,0,0,0,42414,0,0,0,20790,0,0,0,33932,0,0,0,51776,0,0,0,3352,0,0,0,340862,0,0,,,,,1,67574,0,0,0,32068,0,0 +17-43124135-CATATAT-C,17,43124135,,CATATAT,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-26_-19-21del,,c.-19-26_-19-21del,intron_variant,,,,1,1139348,8.776949623819939e-7,0,0,,,2.02,,0.0500,-0.0200,-0.152,,,0,26010,0,0,0,42898,0,0,0,24098,0,0,0,36108,0,0,0,51898,0,0,0,4392,0,0,1,826964,0,0,,,,,0,77748,0,0,0,49232,0,0 +17-43124135-C-T,17,43124135,,C,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-20G>A,,c.-19-20G>A,intron_variant,,,,1,1139344,8.776980437866e-7,0,0,,,1.74,,0.0500,-0.0600,-0.152,,,0,26010,0,0,0,42898,0,0,0,24098,0,0,0,36108,0,0,1,51898,0,0,0,4392,0,0,0,826960,0,0,,,,,0,77748,0,0,0,49232,0,0 +17-43124135-CAT-C,17,43124135,rs273898667,CAT,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22_-19-21del,,c.-19-22_-19-21del,intron_variant,Uncertain significance,1692957,,113,1290656,0.0000875523764659212,0,0,nfe,0.0000876,1.07,,0.0400,-0.0100,-0.152,,,7,67430,0,0,2,58128,0,0,2,27552,0,0,2,41268,0,0,2,62398,0,0,0,4684,0,0,94,894414,0,0,0,912,0,0,3,82552,0,0,1,51318,0,0 +17-43124135-C-CAT,17,43124135,rs273898667,C,CAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22_-19-21dup,,c.-19-22_-19-21dup,intron_variant,Benign/Likely benign,225725,,391,1291020,0.0003028613034654769,1,0,afr,0.00112546,1.51,,0.0500,0.0100,-0.152,,,91,67434,0,0,49,58136,1,0,59,27564,0,0,11,41286,0,0,3,62426,0,0,0,4686,0,0,143,894688,0,0,0,912,0,0,14,82560,0,0,21,51328,0,0 +17-43124137-T-C,17,43124137,rs774892235,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-22A>G,,c.-19-22A>G,intron_variant,Uncertain significance,1175030,,25,1256704,0.000019893308209411285,0,0,nfe,0.00001767,1.68,,0.00,0.00,-1.94,,,0,66768,0,0,1,57198,0,0,0,27206,0,0,0,40536,0,0,0,61582,0,0,0,4536,0,0,23,866504,0,0,0,912,0,0,0,81420,0,0,1,50042,0,0 +17-43124139-T-C,17,43124139,rs370965853,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-24A>G,,c.-19-24A>G,intron_variant,,,,15,741292,0.000020234941156791115,0,0,afr,0.00012134999999999997,4.99,,0.0200,0.0100,-1.16,,,12,56740,0,0,0,54338,0,0,0,23664,0,0,0,38142,0,0,0,61386,0,0,0,3420,0,0,2,401992,0,0,0,912,0,0,0,67368,0,0,1,33330,0,0 +17-43124141-T-A,17,43124141,rs768200575,T,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-26A>T,,c.-19-26A>T,intron_variant,,,,10,1257190,0.00000795424717027657,0,0,sas,0.000060989999999999984,5.58,,0.00,0.00,-0.0110,,,0,66154,0,0,0,54220,0,0,0,26842,0,0,0,39966,0,0,0,61164,0,0,0,4354,0,0,0,876804,0,0,0,912,0,0,9,76772,0,0,1,50002,0,0 +17-43124141-T-C,17,43124141,rs768200575,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-26A>G,,c.-19-26A>G,intron_variant,,,,1,1104992,9.049839274854479e-7,0,0,,,6.20,,0.0400,0.0200,-0.0110,,,0,24696,0,0,0,38934,0,0,0,23374,0,0,0,34762,0,0,0,50574,0,0,0,4038,0,0,1,808764,0,0,,,,,0,71938,0,0,0,47912,0,0 +17-43124142-A-C,17,43124142,,A,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-27T>G,,c.-19-27T>G,intron_variant,,,,1,1107538,9.029035572594349e-7,0,0,,,1.23,,0.130,-0.120,-0.442,,,0,24736,0,0,0,38958,0,0,0,23400,0,0,1,34776,0,0,0,50564,0,0,0,4044,0,0,0,811058,0,0,,,,,0,72000,0,0,0,48002,0,0 +17-43124143-T-C,17,43124143,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-28A>G,,c.-19-28A>G,intron_variant,,,,4,499418,0.000008009322851799495,0,0,nfe,0.00000205,2.76,,0.0300,0.0100,-1.81,,,0,9178,0,0,0,560,0,0,0,3098,0,0,0,2076,0,0,0,164,0,0,0,964,0,0,4,457620,0,0,,,,,0,9592,0,0,0,16166,0,0 +17-43124144-A-G,17,43124144,rs1427914053,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-29T>C,,c.-19-29T>C,intron_variant,,,,1,1088316,9.188507749587436e-7,0,0,,,1.74,,0.0100,-0.0200,0.271,,,0,24362,0,0,0,38170,0,0,0,23224,0,0,0,34302,0,0,0,50070,0,0,0,3924,0,0,1,795724,0,0,,,,,0,71264,0,0,0,47276,0,0 +17-43124145-T-C,17,43124145,rs1356423407,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-30A>G,,c.-19-30A>G,intron_variant,,,,2,1216396,0.0000016442013949404635,0,0,,,6.97,,0.0300,0.0100,-0.718,,,2,65356,0,0,0,53592,0,0,0,26560,0,0,0,39404,0,0,0,60670,0,0,0,4184,0,0,0,841362,0,0,0,912,0,0,0,75720,0,0,0,48636,0,0 +17-43124146-A-C,17,43124146,rs750463455,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-31T>G,,c.-19-31T>G,intron_variant,Likely benign,1697611,,40,1221772,0.00003273933270692077,0,0,sas,0.00011185999999999999,2.48,,0.0400,-0.0300,0.271,,,0,65566,0,0,1,52292,0,0,0,26432,0,0,0,39284,0,0,0,60316,0,0,0,4130,0,0,23,848996,0,0,0,912,0,0,14,75080,0,0,2,48764,0,0 +17-43124148-C-A,17,43124148,rs1339911071,C,A,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-33G>T,,c.-19-33G>T,intron_variant,,,,1,151996,0.000006579120503171136,0,0,,,0.0520,,0.0200,0.00,-0.553,,,0,41366,0,0,0,15266,0,0,0,3466,0,0,1,5194,0,0,0,10540,0,0,0,316,0,0,0,68018,0,0,0,912,0,0,0,4828,0,0,0,2090,0,0 +17-43124153-TA-T,17,43124153,,TA,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-39del,,c.-19-39del,intron_variant,,,,2,1030474,0.000001940854402925256,0,0,nfe,4.4e-7,3.72,,0.0300,0.0100,-3.66,,,0,23120,0,0,0,34352,0,0,0,22414,0,0,0,33676,0,0,0,48728,0,0,0,3628,0,0,2,751528,0,0,,,,,0,67824,0,0,0,45204,0,0 +17-43124154-A-T,17,43124154,,A,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-39T>A,,c.-19-39T>A,intron_variant,,,,1,1031462,9.694976644801262e-7,0,0,,,7.13,,0.0100,-0.0200,1.04,,,0,23228,0,0,0,35012,0,0,0,22558,0,0,0,33690,0,0,0,48784,0,0,0,3636,0,0,1,751142,0,0,,,,,0,68132,0,0,0,45280,0,0 +17-43124155-A-C,17,43124155,rs760677679,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-40T>G,,c.-19-40T>G,intron_variant,,,,6,1165742,0.00000514693645763814,0,0,,,7.06,,0.00,-0.0100,1.07,,,0,64198,0,0,0,48514,0,0,0,25754,0,0,0,38754,0,0,6,58850,0,0,0,3858,0,0,0,806518,0,0,0,912,0,0,0,71736,0,0,0,46648,0,0 +17-43124156-A-G,17,43124156,rs766586132,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-41T>C,,c.-19-41T>C,intron_variant,,,,3,555190,0.000005403555539545021,0,0,sas,0.00000571,6.51,,0.00,-0.0100,0.287,,,0,14398,0,0,0,32758,0,0,0,19450,0,0,0,31644,0,0,0,48104,0,0,0,2616,0,0,1,318262,0,0,,,,,2,58124,0,0,0,29834,0,0 +17-43124158-G-GACATATATATAT,17,43124158,rs199805151,G,GACATATATATAT,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-44_-19-43insATATATATATGT,,c.-19-44_-19-43insATATATATATGT,intron_variant,,,,4,1168454,0.000003423326891773232,0,0,nfe,0.0000011499999999999998,1.48,,0.0300,0.0100,-3.10,,,0,64106,0,0,0,48154,0,0,0,25608,0,0,0,38624,0,0,0,58680,0,0,0,3842,0,0,4,810816,0,0,0,912,0,0,0,70996,0,0,0,46716,0,0 +17-43124158-G-T,17,43124158,rs2154578394,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-43C>A,,c.-19-43C>A,intron_variant,,,,3,1016526,0.0000029512280059732854,0,0,nfe,0.00000108,0.392,,0.00,0.00,-3.10,,,0,22760,0,0,0,32890,0,0,0,22142,0,0,0,33430,0,0,0,48116,0,0,0,3526,0,0,3,742838,0,0,,,,,0,66190,0,0,0,44634,0,0 +17-43124159-GTTTATAAAATGACAACTTCATTTTATCAT-G,17,43124159,,GTTTATAAAATGACAACTTCATTTTATCAT,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-73_-19-45del,,c.-19-73_-19-45del,intron_variant,,,,1,1008728,9.913475188554297e-7,0,0,,,7.39,,0.0300,-0.0300,-1.42,,,0,22602,0,0,0,32058,0,0,0,21986,0,0,0,33432,0,0,0,47880,0,0,0,3492,0,0,1,736980,0,0,,,,,0,65900,0,0,0,44398,0,0 +17-43124159-G-C,17,43124159,rs1271673915,G,C,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-44C>G,,c.-19-44C>G,intron_variant,,,,2,151974,0.000013160145814415624,0,0,nfe,0.0000018200000000000002,2.22,,0.00,0.0100,-1.42,,,0,41370,0,0,0,15268,0,0,0,3470,0,0,0,5206,0,0,0,10550,0,0,0,316,0,0,2,67982,0,0,0,912,0,0,0,4812,0,0,0,2088,0,0 +17-43124159-G-T,17,43124159,rs1271673915,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-44C>A,,c.-19-44C>A,intron_variant,,,,1,1008724,9.913514499506307e-7,0,0,,,2.11,,0.00,0.00,-1.42,,,0,22602,0,0,0,32058,0,0,0,21986,0,0,0,33432,0,0,0,47880,0,0,0,3492,0,0,0,736976,0,0,,,,,1,65900,0,0,0,44398,0,0 +17-43124160-T-C,17,43124160,rs1436068795,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-45A>G,,c.-19-45A>G,intron_variant,,,,2,548580,0.000003645776368077582,0,0,,,7.24,,0.00,-0.0200,-0.671,,,0,14220,0,0,0,31332,0,0,0,19198,0,0,1,31544,0,0,0,47680,0,0,0,2560,0,0,0,315448,0,0,,,,,1,57036,0,0,0,29562,0,0 +17-43124164-T-C,17,43124164,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-49A>G,,c.-19-49A>G,intron_variant,,,,1,941116,0.0000010625682700113482,0,0,,,8.48,,0.00,0.00,-0.0440,,,0,21324,0,0,0,31286,0,0,0,21558,0,0,0,33166,0,0,0,47498,0,0,0,3318,0,0,0,676334,0,0,,,,,1,64362,0,0,0,42270,0,0 +17-43124164-TA-T,17,43124164,rs1212080615,TA,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-50del,,c.-19-50del,intron_variant,,,,4,1093346,0.000003658494200372069,0,0,sas,0.00001949,8.05,,0.0300,0.0100,-0.0440,,,0,62792,0,0,0,46576,0,0,0,25028,0,0,0,38374,0,0,0,58102,0,0,0,3634,0,0,0,744372,0,0,0,910,0,0,4,69198,0,0,0,44360,0,0 +17-43124166-A-G,17,43124166,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-51T>C,,c.-19-51T>C,intron_variant,,,,3,890868,0.0000033675022562265115,0,0,,,10.6,,0.00,-0.0100,1.33,,,0,20392,0,0,1,30710,0,0,0,21176,0,0,0,32944,0,0,0,47282,0,0,0,3132,0,0,1,631472,0,0,,,,,0,63118,0,0,1,40642,0,0 +17-43124168-A-G,17,43124168,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-53T>C,,c.-19-53T>C,intron_variant,,,,11,882506,0.000012464504490621027,0,0,nfe,0.00000945,8.29,,0.00,-0.0100,1.54,,,0,20222,0,0,0,30332,0,0,0,21098,0,0,0,32932,0,0,0,47146,0,0,0,3094,0,0,11,624602,0,0,,,,,0,62710,0,0,0,40370,0,0 +17-43124169-T-C,17,43124169,,T,C,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-54A>G,,c.-19-54A>G,intron_variant,,,,1,878598,0.0000011381769592009087,0,0,,,5.24,,0.00,0.00,-0.117,,,0,20142,0,0,0,29904,0,0,0,21034,0,0,0,32918,0,0,0,46982,0,0,0,3074,0,0,1,621870,0,0,,,,,0,62394,0,0,0,40280,0,0 +17-43124169-T-TA,17,43124169,rs273898670,T,TA,gnomAD Genomes,NA,PASS,ENST00000357654.9,c.-19-55_-19-54insT,,c.-19-55_-19-54insT,intron_variant,Uncertain significance,125473,,1,152184,0.000006570993008463439,0,0,,,4.72,,0.00,0.0100,-0.117,,,0,41448,0,0,0,15282,0,0,0,3470,0,0,1,5202,0,0,0,10594,0,0,0,316,0,0,0,68034,0,0,0,912,0,0,0,4836,0,0,0,2090,0,0 +17-43124169-T-TG,17,43124169,,T,TG,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-55dup,,c.-19-55dup,intron_variant,,,,3,878598,0.000003414530877602726,0,0,nfe,0.0000012800000000000002,4.72,,0.00,-0.0200,-0.117,,,0,20142,0,0,0,29904,0,0,0,21034,0,0,0,32918,0,0,0,46982,0,0,0,3074,0,0,3,621870,0,0,,,,,0,62394,0,0,0,40280,0,0 +17-43124170-GACA-G,17,43124170,rs8176078,GACA,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-19-58_-19-56del,,c.-19-58_-19-56del,intron_variant,,,,256,1023540,0.00025011235515954433,0,0,afr,0.003188080000000001,8.83,,0.00,-0.0200,0.350,,,220,61520,0,0,16,44980,0,0,0,24404,0,0,0,38030,0,0,0,57384,0,0,0,3358,0,0,10,684022,0,0,0,912,0,0,0,66774,0,0,10,42156,0,0 +17-43124171-A-G,17,43124171,,A,G,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-19-56T>C,,c.-19-56T>C,intron_variant,,,,1,336624,0.000002970673511098436,0,0,,,11.0,,0.00,-0.0200,0.459,,,0,5962,0,0,0,384,0,0,0,2048,0,0,0,1430,0,0,0,110,0,0,0,646,0,0,1,308536,0,0,,,,,0,6496,0,0,0,11012,0,0 +17-43125107-A-C,17,43125107,rs2154579681,A,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-390T>G,,c.-390T>G,5_prime_UTR_variant,,,,3,294824,0.000010175562369413617,0,0,nfe,0.00000522,7.16,,0.00,0.0300,-0.255,,,0,8102,0,0,0,27010,0,0,0,10540,0,0,0,8764,0,0,0,12192,0,0,0,2746,0,0,3,152906,0,0,,,,,0,58808,0,0,0,13756,0,0 +17-43125110-C-CT,17,43125110,,C,CT,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-394dup,,c.-394dup,5_prime_UTR_variant,,,,1,297986,0.0000033558623559496085,0,0,,,7.34,,0.00,-0.0100,-0.731,,,0,8254,0,0,0,27106,0,0,0,10634,0,0,0,8968,0,0,0,12274,0,0,0,2752,0,0,1,154824,0,0,,,,,0,59294,0,0,0,13880,0,0 +17-43125111-T-TCCCCCCCCCCCCCCCCCCCCCACCCC,17,43125111,,T,TCCCCCCCCCCCCCCCCCCCCCACCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGTGGGGGGGGGGGGGGGGGGGGG,,c.-395_-394insGGGGTGGGGGGGGGGGGGGGGGGGGG,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,6.35,,0.0300,-0.0500,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 +17-43125111-T-TTC,17,43125111,,T,TTC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGA,,c.-395_-394insGA,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,7.39,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 +17-43125111-T-TCCCCCCCCC,17,43125111,,T,TCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGG,,c.-395_-394insGGGGGGGGG,5_prime_UTR_variant,,,,8,285434,0.000028027494972568088,0,0,nfe,0.00000541,7.10,,0.00,0.00,0.0930,,,0,7498,0,0,1,26496,0,0,0,10324,0,0,1,8210,0,0,0,11970,0,0,0,2706,0,0,3,147472,0,0,,,,,1,57522,0,0,2,13236,0,0 +17-43125111-T-TCCCCCCCCCCCCCCCCCCCCC,17,43125111,,T,TCCCCCCCCCCCCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGGGGGGGGGGGGGG,,c.-395_-394insGGGGGGGGGGGGGGGGGGGGG,5_prime_UTR_variant,,,,1,285440,0.0000035033632286995516,0,0,,,6.58,,0.0100,-0.0500,0.0930,,,0,7498,0,0,1,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 +17-43125111-T-C,17,43125111,rs1032040429,T,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-394A>G,,c.-394A>G,5_prime_UTR_variant,,,,14,423212,0.00003308034743816338,0,0,nfe,0.00002483,9.90,,0.00,0.0100,0.0930,,,0,42498,0,0,3,40192,0,0,0,13652,0,0,0,13002,0,0,1,21100,0,0,0,2996,0,0,10,211906,0,0,0,862,0,0,0,61902,0,0,0,15102,0,0 +17-43125111-T-TC,17,43125111,,T,TC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insG,,c.-395_-394insG,5_prime_UTR_variant,,,,7,285430,0.000024524401779770872,0,0,amr,0.00001249,7.44,,0.00,0.0100,0.0930,,,1,7498,0,0,2,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,2,147462,0,0,,,,,1,57526,0,0,1,13236,0,0 +17-43125111-T-TCCCCCCC,17,43125111,,T,TCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGG,,c.-395_-394insGGGGGGG,5_prime_UTR_variant,,,,6,285436,0.000021020473941619137,0,0,sas,0.00000577,7.18,,0.00,0.0100,0.0930,,,1,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,3,147468,0,0,,,,,2,57526,0,0,0,13236,0,0 +17-43125111-T-TCCCCC,17,43125111,,T,TCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGG,,c.-395_-394insGGGGG,5_prime_UTR_variant,,,,12,285436,0.000042040947883238274,0,0,sas,0.000045379999999999975,7.27,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,1,10322,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,5,147470,0,0,,,,,6,57526,0,0,0,13236,0,0 +17-43125111-T-TCCCCCCCCCC,17,43125111,,T,TCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGGGG,,c.-395_-394insGGGGGGGGGG,5_prime_UTR_variant,,,,15,285430,0.00005255228952808044,0,0,sas,0.000045379999999999975,7.06,,0.0100,-0.0200,0.0930,,,0,7498,0,0,1,26498,0,0,1,10324,0,0,1,8210,0,0,0,11968,0,0,0,2704,0,0,5,147468,0,0,,,,,6,57524,0,0,1,13236,0,0 +17-43125111-T-TTCCC,17,43125111,,T,TTCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGA,,c.-395_-394insGGGA,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.31,,0.00,0.00,0.0930,,,1,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147470,0,0,,,,,0,57526,0,0,0,13236,0,0 +17-43125111-TG-T,17,43125111,,TG,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395del,,c.-395del,5_prime_UTR_variant,,,,32,285400,0.00011212333566923616,0,0,sas,0.00006860999999999998,5.88,,0.00,0.00,0.0930,,,0,7498,0,0,3,26498,0,0,1,10324,0,0,1,8210,0,0,1,11968,0,0,0,2706,0,0,16,147440,0,0,,,,,8,57522,0,0,2,13234,0,0 +17-43125111-T-TACC,17,43125111,,T,TACC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGT,,c.-395_-394insGGT,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.35,,0.00,0.0100,0.0930,,,0,7496,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,0,57526,0,0,2,13236,0,0 +17-43125111-T-TTCC,17,43125111,,T,TTCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGA,,c.-395_-394insGGA,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.35,,0.00,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,1,8210,0,0,0,11970,0,0,0,2706,0,0,0,147472,0,0,,,,,1,57524,0,0,0,13236,0,0 +17-43125111-T-TCCCCCCCC,17,43125111,,T,TCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGGGG,,c.-395_-394insGGGGGGGG,5_prime_UTR_variant,,,,2,285440,0.000007006726457399103,0,0,nfe,0.0000022500000000000005,7.14,,0.0100,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,2,147472,0,0,,,,,0,57526,0,0,0,13236,0,0 +17-43125111-T-TCCCCCC,17,43125111,,T,TCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-395_-394insGGGGGG,,c.-395_-394insGGGGGG,5_prime_UTR_variant,,,,2,285438,0.000007006775551958744,0,0,,,7.23,,0.0100,0.0100,0.0930,,,0,7498,0,0,0,26498,0,0,0,10324,0,0,0,8210,0,0,0,11970,0,0,0,2706,0,0,1,147470,0,0,,,,,0,57526,0,0,1,13236,0,0 +17-43125112-G-GCCCCCCCCC,17,43125112,,G,GCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-396_-395insGGGGGGGGG,,c.-396_-395insGGGGGGGGG,5_prime_UTR_variant,,,,1,163410,0.000006119576525304449,0,0,,,6.18,,0.00,0.0100,-0.381,,,0,4162,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7210,0,0,0,2242,0,0,0,78898,0,0,,,,,0,34380,0,0,1,7368,0,0 +17-43125112-G-GCCCCCCCCCC,17,43125112,,G,GCCCCCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-396_-395insGGGGGGGGGG,,c.-396_-395insGGGGGGGGGG,5_prime_UTR_variant,,,,7,163406,0.00004283808428087096,0,0,nfe,0.00003227,6.13,,0.0100,-0.0200,-0.381,,,0,4160,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7208,0,0,0,2242,0,0,6,78898,0,0,,,,,0,34380,0,0,1,7368,0,0 +17-43125112-G-GCCCCCC,17,43125112,,G,GCCCCCC,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-401_-396dup,,c.-401_-396dup,5_prime_UTR_variant,,,,1,163414,0.000006119426732103736,0,0,,,6.32,,0.0100,0.0100,-0.381,,,0,4162,0,0,0,18208,0,0,0,7340,0,0,0,3602,0,0,0,7210,0,0,0,2242,0,0,1,78902,0,0,,,,,0,34380,0,0,0,7368,0,0 +17-43125112-G-GC,17,43125112,rs879045073,G,GC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-396dup,,c.-396dup,5_prime_UTR_variant,,,,45,270488,0.00016636597557008074,0,0,nfe,0.00014403,6.54,,0.00,-0.0100,-0.381,,,2,28898,0,0,1,28198,0,0,0,10122,0,0,2,7700,0,0,2,13854,0,0,0,2428,0,0,27,131760,0,0,0,704,0,0,10,37948,0,0,1,8876,0,0 +17-43125112-GC-G,17,43125112,rs879045073,GC,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-396del,,c.-396del,5_prime_UTR_variant,,,,34,270494,0.00012569594889350595,0,0,sas,0.0006132500000000002,3.80,,0.00,0.0100,-0.381,,,0,28898,0,0,0,28198,0,0,0,10120,0,0,0,7702,0,0,0,13854,0,0,0,2428,0,0,2,131768,0,0,0,704,0,0,32,37946,0,0,0,8876,0,0 +17-43125112-G-GCCCCCCCCCCCACCCCCCGC,17,43125112,,G,GCCCCCCCCCCCACCCCCCGC,gnomAD 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+17-43125140-T-C,17,43125140,rs1476498293,T,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-423A>G,,c.-423A>G,5_prime_UTR_variant,,,,1,302210,0.0000033089573475397903,0,0,,,9.27,,0.0100,0.00,0.0850,,,0,8540,0,0,1,27090,0,0,0,10726,0,0,0,9082,0,0,0,12332,0,0,0,2782,0,0,0,157976,0,0,,,,,0,59520,0,0,0,14162,0,0 +17-43125141-A-T,17,43125141,rs1168637182,A,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-424T>A,,c.-424T>A,5_prime_UTR_variant,,,,1,301016,0.0000033220825471071304,0,0,,,9.47,,0.0100,0.00,0.161,,,0,8506,0,0,0,27042,0,0,0,10704,0,0,0,9024,0,0,0,12288,0,0,0,2778,0,0,0,157222,0,0,,,,,0,59380,0,0,1,14072,0,0 +17-43125142-C-G,17,43125142,rs1418816948,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-425G>C,,c.-425G>C,5_prime_UTR_variant,,,,7,453244,0.000015444219890390164,0,0,afr,0.000006720000000000001,6.92,,0.00,0.00,0.285,,,2,49380,0,0,0,42192,0,0,0,14210,0,0,0,14216,0,0,0,22788,0,0,0,3098,0,0,4,225888,0,0,0,908,0,0,0,64330,0,0,1,16234,0,0 +17-43125143-GCCT-G,17,43125143,rs1190974110,GCCT,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-429_-427del,,c.-429_-427del,5_prime_UTR_variant,,,,66,414074,0.00015939179953341673,0,0,nfe,0.00021972999999999999,7.56,,0.00,0.0100,0.281,,,4,36898,0,0,2,37072,0,0,0,13684,0,0,0,12954,0,0,0,19158,0,0,0,2954,0,0,59,213080,0,0,0,838,0,0,0,62220,0,0,1,15216,0,0 +17-43125149-C-G,17,43125149,rs1408714998,C,G,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-432G>C,,c.-432G>C,5_prime_UTR_variant,,,,2,302888,0.000006603100816143261,0,0,amr,0.0000122,4.67,,0.00,-0.0100,-0.304,,,0,8566,0,0,2,27140,0,0,0,10752,0,0,0,9102,0,0,0,12350,0,0,0,2782,0,0,0,158386,0,0,,,,,0,59618,0,0,0,14192,0,0 +17-43125156-C-T,17,43125156,rs1176031617,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-439G>A,,c.-439G>A,5_prime_UTR_variant,,,,1,303128,0.000003298936422897258,0,0,,,10.8,,0.00,0.0100,3.39,,,0,8572,0,0,0,27168,0,0,0,10764,0,0,0,9112,0,0,0,12358,0,0,0,2782,0,0,0,158526,0,0,,,,,0,59644,0,0,1,14202,0,0 +17-43125157-G-A,17,43125157,rs2154579794,G,A,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-440C>T,,c.-440C>T,5_prime_UTR_variant,,,,1,299800,0.00000333555703802535,0,0,,,1.79,,0.0100,0.00,-0.276,,,0,8434,0,0,0,26966,0,0,0,10698,0,0,0,8878,0,0,0,12246,0,0,0,2768,0,0,1,156604,0,0,,,,,0,59166,0,0,0,14040,0,0 +17-43125158-C-T,17,43125158,rs909283005,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-441G>A,,c.-441G>A,5_prime_UTR_variant,,,,5,454452,0.000011002262065080581,0,0,afr,0.000026810000000000006,0.806,,0.00,0.0100,-1.24,,,4,49584,0,0,1,42320,0,0,0,14228,0,0,0,14262,0,0,0,22872,0,0,0,3098,0,0,0,226466,0,0,0,908,0,0,0,64452,0,0,0,16262,0,0 +17-43125161-CT-C,17,43125161,rs942225050,CT,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-445del,,c.-445del,5_prime_UTR_variant,,,,3,303354,0.00000988943610435333,0,0,afr,0.00003900999999999998,3.03,,0.00,0.00,0.586,,,1,8586,0,0,0,27188,0,0,0,10768,0,0,0,9142,0,0,0,12366,0,0,0,2782,0,0,1,158642,0,0,,,,,1,59676,0,0,0,14204,0,0 +17-43125162-T-C,17,43125162,rs778648450,T,C,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-445A>G,,c.-445A>G,5_prime_UTR_variant,,,,7,298718,0.000023433472371936072,0,0,nfe,0.00001231,6.95,,0.0200,0.00,-1.81,,,0,8402,0,0,0,26956,0,0,0,10680,0,0,0,8986,0,0,0,12222,0,0,0,2768,0,0,6,155754,0,0,,,,,0,58986,0,0,1,13964,0,0 +17-43125163-A-AC,17,43125163,rs759063490,A,AC,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-447dup,,c.-447dup,5_prime_UTR_variant,Uncertain significance,371811,,134,398786,0.0003360198201541679,1,0,sas,0.0017825999999999999,0.185,,0.00,0.0100,-2.94,,,4,31746,0,0,0,35896,0,0,0,13444,0,0,0,12354,0,0,0,17598,0,0,0,2934,0,0,0,207264,0,0,0,684,0,0,128,61664,1,0,2,15202,0,0 +17-43125164-C-T,17,43125164,rs1327901298,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-447G>A,,c.-447G>A,5_prime_UTR_variant,,,,1,303820,0.000003291422552827332,0,0,,,0.235,,0.00,0.0100,-0.805,,,1,8602,0,0,0,27264,0,0,0,10786,0,0,0,9188,0,0,0,12370,0,0,0,2780,0,0,0,158886,0,0,,,,,0,59718,0,0,0,14226,0,0 +17-43125165-C-T,17,43125165,rs1430995690,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-448G>A,,c.-448G>A,5_prime_UTR_variant,,,,2,303842,0.000006582368467822092,0,0,,,5.22,,0.0100,0.0200,0.586,,,0,8604,0,0,0,27268,0,0,0,10784,0,0,0,9190,0,0,0,12370,0,0,1,2782,0,0,1,158896,0,0,,,,,0,59720,0,0,0,14228,0,0 +17-43125167-C-G,17,43125167,rs752555905,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-450G>C,,c.-450G>C,5_prime_UTR_variant,,,,41,455542,0.00009000267812847114,0,0,sas,0.00045397000000000005,8.66,,0.0300,0.0500,0.0920,,,0,49904,0,0,0,42474,0,0,0,14254,0,0,0,14334,0,0,0,22948,0,0,0,3076,0,0,1,226808,0,0,0,912,0,0,39,64512,0,0,1,16320,0,0 +17-43125168-C-G,17,43125168,rs1057517546,C,G,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-451G>C,,c.-451G>C,5_prime_UTR_variant,Uncertain significance,371814,,2,303830,0.0000065826284435375045,0,0,,,5.10,,0.0300,0.0400,-0.317,,,0,8600,0,0,0,27268,0,0,0,10786,0,0,0,9190,0,0,0,12370,0,0,0,2782,0,0,1,158888,0,0,,,,,1,59718,0,0,0,14228,0,0 +17-43125169-C-A,17,43125169,rs1036527805,C,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-452G>T,,c.-452G>T,5_prime_UTR_variant,,,,9,455412,0.000019762325103422835,0,0,nfe,0.000011500000000000002,1.47,,0.00,0.0100,-1.75,,,1,49778,0,0,0,42466,0,0,0,14252,0,0,1,14350,0,0,0,22936,0,0,0,3096,0,0,6,226806,0,0,0,912,0,0,0,64520,0,0,1,16296,0,0 +17-43125169-CG-C,17,43125169,rs1567824285,CG,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-453del,,c.-453del,5_prime_UTR_variant,,,,3,455530,0.0000065857352973459485,0,0,,,0.179,,0.00,0.0100,-1.75,,,1,49900,0,0,0,42486,0,0,0,14252,0,0,1,14338,0,0,0,22936,0,0,0,3074,0,0,0,226798,0,0,0,912,0,0,1,64516,0,0,0,16318,0,0 +17-43125169-C-G,17,43125169,rs1036527805,C,G,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-452G>C,,c.-452G>C,5_prime_UTR_variant,,,,8,455412,0.00001756651120304252,0,0,amr,0.00001873,1.59,,0.0100,0.0100,-1.75,,,0,49778,0,0,3,42466,0,0,0,14252,0,0,0,14350,0,0,0,22936,0,0,0,3096,0,0,5,226806,0,0,0,912,0,0,0,64520,0,0,0,16296,0,0 +17-43125169-C-T,17,43125169,rs1036527805,C,T,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-452G>A,,c.-452G>A,5_prime_UTR_variant,,,,1,303798,0.0000032916609062600807,0,0,,,1.91,,0.00,-0.0200,-1.75,,,0,8592,0,0,0,27266,0,0,0,10786,0,0,0,9186,0,0,0,12370,0,0,0,2782,0,0,0,158878,0,0,,,,,1,59710,0,0,0,14228,0,0 +17-43125170-G-A,17,43125170,rs799905,G,A,gnomAD Exomes,PASS,NA,ENST00000618469.1,c.-453C>T,,c.-453C>T,5_prime_UTR_variant,,,,4,302280,0.000013232764324467381,0,0,sas,0.00001336,0.439,,0.00,-0.0100,0.598,,,0,8626,0,0,0,27162,0,0,0,10750,0,0,0,9112,0,0,0,12318,0,0,0,2778,0,0,1,157780,0,0,,,,,3,59610,0,0,0,14144,0,0 +17-43125170-G-C,17,43125170,rs799905,G,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000618469.1,c.-453C>G,,c.-453C>G,5_prime_UTR_variant,Benign,189123,,192695,443588,0.43440084041948834,46468,0,afr,0.8117463500000001,0.366,,0.00,-0.0100,0.598,,,39198,47888,15982,0,15588,40548,2953,0,5328,14084,985,0,5229,13734,985,0,8800,21344,1725,0,1310,3044,305,0,76602,221992,13012,0,256,846,40,0,33831,64026,9104,0,6553,16082,1377,0 +17-43125173-AAAG-A,17,43125173,rs1328673976,AAAG,A,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-20+95_-20+97del,,c.-20+95_-20+97del,intron_variant,,,,1,302266,0.000003308344306008615,0,0,,,0.716,,0.00,0.0100,-0.382,,,0,8532,0,0,0,27196,0,0,0,10756,0,0,0,9126,0,0,0,12308,0,0,0,2774,0,0,0,158052,0,0,,,,,1,59384,0,0,0,14138,0,0 +17-43125176-G-T,17,43125176,,G,T,gnomAD Exomes,PASS,NA,ENST00000357654.9,c.-20+95C>A,,c.-20+95C>A,intron_variant,,,,1,303912,0.000003290426175998315,0,0,,,1.09,,0.00,0.00,-0.277,,,0,8620,0,0,0,27276,0,0,0,10788,0,0,0,9202,0,0,0,12368,0,0,0,2782,0,0,1,158912,0,0,,,,,0,59730,0,0,0,14234,0,0 +17-43125178-A-C,17,43125178,rs938956048,A,C,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000357654.9,c.-20+93T>G,,c.-20+93T>G,intron_variant,,,,4,450826,0.000008872602733648903,0,0,afr,0.000028470000000000007,11.2,,0.00,0.0100,1.02,,,4,47902,0,0,0,42016,0,0,0,14228,0,0,0,14070,0,0,0,22156,0,0,0,3094,0,0,0,225934,0,0,0,904,0,0,0,64262,0,0,0,16260,0,0 +17-43125181-C-G,17,43125181,rs2154579839,C,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-20+1G>C,,c.-20+1G>C,splice_donor_variant,,,,1,303984,0.000003289646823517027,0,0,,,8.00,,0.0100,0.0200,0.00,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9206,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125182-C-T,17,43125182,rs2055819951,C,T,gnomAD Genomes,NA,PASS,ENST00000586385.5,p.Asp2Asn,p.Asp2Asn,c.4G>A,missense_variant,,,,1,151350,0.000006607201850016518,0,0,,,6.21,,0.00,-0.0400,1.97,,,0,41104,0,0,0,15148,0,0,0,3468,0,0,0,5148,0,0,0,10546,0,0,0,316,0,0,1,67888,0,0,0,908,0,0,0,4756,0,0,0,2068,0,0 +17-43125184-A-G,17,43125184,rs777691131,A,G,gnomAD Exomes,PASS,NA,ENST00000586385.5,p.Met1?,p.Met1?,c.2T>C,start_lost,,,,5,303978,0.000016448558777279935,0,0,sas,0.00003243,0.265,,0.200,0.0600,-2.34,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9206,0,0,0,12370,0,0,0,2782,0,0,0,158942,0,0,,,,,5,59744,0,0,0,14236,0,0 +17-43125186-C-T,17,43125186,rs2055820226,C,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-24G>A,,c.-24G>A,5_prime_UTR_variant,,,,1,151430,0.000006603711285742587,0,0,,,7.04,,0.120,0.0200,-0.0430,,,1,41108,0,0,0,15172,0,0,0,3466,0,0,0,5142,0,0,0,10560,0,0,0,316,0,0,0,67912,0,0,0,910,0,0,0,4772,0,0,0,2072,0,0 +17-43125187-T-A,17,43125187,rs2055820469,T,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-25A>T,,c.-25A>T,5_prime_UTR_variant,,,,1,144506,0.0000069201278839632955,0,0,,,8.16,,0.0800,0.0200,0.00900,,,0,37680,0,0,0,14250,0,0,0,3454,0,0,0,4854,0,0,0,9376,0,0,0,298,0,0,0,67120,0,0,0,898,0,0,1,4578,0,0,0,1998,0,0 +17-43125188-G-A,17,43125188,rs1406994561,G,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-26C>T,,c.-26C>T,5_prime_UTR_variant,,,,2,145154,0.000013778469763148105,0,0,afr,0.00000873,4.96,,0.00,0.0100,0.337,,,2,37972,0,0,0,14072,0,0,0,3460,0,0,0,4970,0,0,0,9410,0,0,0,296,0,0,0,67442,0,0,0,902,0,0,0,4644,0,0,0,1986,0,0 +17-43125190-C-T,17,43125190,rs2154579848,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-28G>A,,c.-28G>A,5_prime_UTR_variant,,,,1,303988,0.000003289603536981723,0,0,,,4.17,,0.00,-0.0100,-0.141,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125191-A-T,17,43125191,rs1057289796,A,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-29T>A,,c.-29T>A,5_prime_UTR_variant,,,,2,144538,0.000013837191603592135,0,0,afr,0.00000876,4.70,,0.00,-0.0100,-0.872,,,2,37820,0,0,0,14138,0,0,0,3434,0,0,0,4928,0,0,0,9330,0,0,0,294,0,0,0,67126,0,0,0,904,0,0,0,4582,0,0,0,1982,0,0 +17-43125192-G-A,17,43125192,rs2055821244,G,A,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-30C>T,,c.-30C>T,5_prime_UTR_variant,,,,1,147118,0.000006797264780652265,0,0,,,2.37,,0.00,0.00,0.0760,,,0,38854,0,0,0,14450,0,0,0,3464,0,0,0,5026,0,0,0,9798,0,0,0,302,0,0,0,67592,0,0,0,904,0,0,0,4696,0,0,1,2032,0,0 +17-43125196-C-T,17,43125196,rs1287894964,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-34G>A,,c.-34G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,5.31,,0.00,-0.0200,0.626,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158942,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125197-G-A,17,43125197,rs894166357,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-35C>T,,c.-35C>T,5_prime_UTR_variant,,,,7,451920,0.000015489467162329617,0,0,nfe,0.00000846,4.57,,0.00,0.0100,-0.643,,,1,47912,0,0,0,41932,0,0,0,14250,0,0,0,14270,0,0,0,22258,0,0,0,3092,0,0,5,226584,0,0,0,910,0,0,0,64444,0,0,1,16268,0,0 +17-43125198-GAA-G,17,43125198,rs2055821722,GAA,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-38_-37del,,c.-38_-37del,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,1.14,,0.0200,-0.0200,-0.379,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,1,9210,0,0,0,12372,0,0,0,2782,0,0,0,158944,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125202-T-C,17,43125202,rs2154579865,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-40A>G,,c.-40A>G,5_prime_UTR_variant,,,,1,303980,0.000003289690111191526,0,0,,,1.80,,0.00,0.0200,-0.0860,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12370,0,0,0,2782,0,0,1,158940,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125204-C-T,17,43125204,rs2154579869,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-42G>A,,c.-42G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,0.732,,0.00,0.0100,-0.179,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125214-C-T,17,43125214,rs556032779,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-52G>A,,c.-52G>A,5_prime_UTR_variant,Likely benign,548880,,12,455924,0.000026320176169712497,0,0,nfe,0.000020640000000000002,0.392,,0.00,-0.0200,-0.916,,,2,50020,0,0,0,42524,0,0,0,14260,0,0,0,14368,0,0,0,22952,0,0,0,3076,0,0,9,226932,0,0,0,912,0,0,0,64540,0,0,1,16340,0,0 +17-43125216-C-T,17,43125216,rs772215665,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-54G>A,,c.-54G>A,5_prime_UTR_variant,Likely benign,371899,,11,455854,0.000024130533021537597,0,0,nfe,0.000017140000000000002,6.96,,0.130,-0.0300,0.638,,,1,49916,0,0,0,42526,0,0,0,14260,0,0,0,14380,0,0,0,22962,0,0,0,3098,0,0,8,226936,0,0,0,910,0,0,0,64550,0,0,2,16316,0,0 +17-43125219-G-A,17,43125219,rs2154579897,G,A,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-57C>T,,c.-57C>T,5_prime_UTR_variant,,,,1,303982,0.0000032896684672118744,0,0,,,1.59,,0.00,0.0100,0.306,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14232,0,0 +17-43125221-A-AC,17,43125221,,A,AC,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-60dup,,c.-60dup,5_prime_UTR_variant,,,,2,303980,0.000006579380222383052,0,0,,,6.36,,0.00,0.0200,-0.0310,,,0,8626,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,2,12370,0,0,0,2782,0,0,0,158944,0,0,,,,,0,59744,0,0,0,14232,0,0 +17-43125223-C-T,17,43125223,rs1474438175,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-61G>A,,c.-61G>A,5_prime_UTR_variant,,,,1,303986,0.0000032896251801069787,0,0,,,6.49,,0.280,-0.0700,-0.717,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12372,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14232,0,0 +17-43125224-C-T,17,43125224,rs1222031799,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-62G>A,,c.-62G>A,5_prime_UTR_variant,,,,2,455940,0.000004386542088871342,0,0,,,3.49,,0.240,0.120,0.0650,,,2,49960,0,0,0,42536,0,0,0,14262,0,0,0,14384,0,0,0,22980,0,0,0,3098,0,0,0,226940,0,0,0,912,0,0,0,64548,0,0,0,16320,0,0 +17-43125225-C-G,17,43125225,rs1292324820,C,G,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-63G>C,,c.-63G>C,5_prime_UTR_variant,,,,1,151966,0.000006580419304318071,0,0,,,5.62,,0.120,0.0300,-0.187,,,0,41348,0,0,0,15254,0,0,0,3470,0,0,0,5176,0,0,0,10594,0,0,0,316,0,0,1,68004,0,0,0,910,0,0,0,4802,0,0,0,2092,0,0 +17-43125229-G-C,17,43125229,rs2055823239,G,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-67C>G,,c.-67C>G,5_prime_UTR_variant,,,,1,303988,0.000003289603536981723,0,0,,,0.947,,0.00,0.0200,-0.0930,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12374,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125230-C-T,17,43125230,rs2055823430,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-68G>A,,c.-68G>A,5_prime_UTR_variant,,,,1,303990,0.0000032895818941412546,0,0,,,1.50,,0.00,-0.0100,0.00200,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12376,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125233-C-G,17,43125233,rs2154579918,C,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-71G>C,,c.-71G>C,5_prime_UTR_variant,,,,1,303994,0.0000032895386093146577,0,0,,,5.90,,0.0100,-0.0200,0.203,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125236-T-C,17,43125236,rs1195556275,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-74A>G,,c.-74A>G,5_prime_UTR_variant,,,,1,303992,0.000003289560251585568,0,0,,,0.570,,0.0700,0.0600,-0.765,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158944,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125241-C-T,17,43125241,rs1396251367,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-79G>A,,c.-79G>A,5_prime_UTR_variant,,,,1,303990,0.0000032895818941412546,0,0,,,6.28,,0.00,-0.0300,-0.750,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,1,9210,0,0,0,12378,0,0,0,2782,0,0,0,158942,0,0,,,,,0,59744,0,0,0,14234,0,0 +17-43125243-C-T,17,43125243,rs904265019,C,T,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-81G>A,,c.-81G>A,5_prime_UTR_variant,Likely benign,803422,,3,456060,0.000006578081831337982,0,0,nfe,0.00000352,6.15,,0.0300,-0.0900,0.0920,,,0,50008,0,0,0,42538,0,0,0,14262,0,0,0,14402,0,0,0,22974,0,0,0,3098,0,0,3,226974,0,0,0,912,0,0,0,64566,0,0,0,16326,0,0 +17-43125244-C-T,17,43125244,rs1172227698,C,T,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-82G>A,,c.-82G>A,5_prime_UTR_variant,,,,1,303994,0.0000032895386093146577,0,0,,,11.4,,0.0100,-0.0500,1.48,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12376,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125245-C-T,17,43125245,rs746485760,C,T,gnomAD Genomes,NA,PASS,ENST00000470026.5,c.-83G>A,,c.-83G>A,5_prime_UTR_variant,,,,1,152126,0.000006573498284316948,0,0,,,5.44,,0.0100,-0.0300,-0.0300,,,1,41420,0,0,0,15262,0,0,0,3470,0,0,0,5190,0,0,0,10612,0,0,0,316,0,0,0,68032,0,0,0,912,0,0,0,4824,0,0,0,2088,0,0 +17-43125245-C-A,17,43125245,rs746485760,C,A,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-83G>T,,c.-83G>T,5_prime_UTR_variant,,,,2,303998,0.0000065789906512542845,0,0,sas,0.00000555,4.75,,0.00,-0.0200,-0.0300,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12380,0,0,0,2782,0,0,0,158946,0,0,,,,,2,59744,0,0,0,14236,0,0 +17-43125247-G-C,17,43125247,rs2055824503,G,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-85C>G,,c.-85C>G,5_prime_UTR_variant,,,,1,303998,0.0000032894953256271422,0,0,,,1.35,,0.0300,0.0300,-0.389,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158948,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125248-T-C,17,43125248,rs746498642,T,C,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-86A>G,,c.-86A>G,5_prime_UTR_variant,,,,1,304000,0.0000032894736842105265,0,0,,,12.8,,0.00,0.0200,0.599,,,0,8628,0,0,0,27282,0,0,0,10790,0,0,0,9210,0,0,0,12380,0,0,0,2782,0,0,1,158948,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125252-T-G,17,43125252,,T,G,gnomAD Exomes,PASS,NA,ENST00000470026.5,c.-90A>C,,c.-90A>C,5_prime_UTR_variant,Likely benign,2087470,,1,303994,0.0000032895386093146577,0,0,,,7.76,,0.00,0.0200,-0.0700,,,0,8628,0,0,0,27280,0,0,0,10790,0,0,0,9210,0,0,0,12378,0,0,0,2782,0,0,1,158946,0,0,,,,,0,59744,0,0,0,14236,0,0 +17-43125258-G-A,17,43125258,rs770368390,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-96C>T,,c.-96C>T,5_prime_UTR_variant,Conflicting interpretations of pathogenicity,382001,,18,455896,0.000039482689034341166,0,0,sas,0.00017963999999999998,0.115,,0.0100,-0.0100,-3.06,,,0,49932,0,0,0,42522,0,0,0,14262,0,0,0,14386,0,0,0,22950,0,0,0,3098,0,0,0,226954,0,0,0,912,0,0,18,64556,0,0,0,16324,0,0 +17-43125260-G-A,17,43125260,rs273898672,G,A,"gnomAD Exomes,gnomAD Genomes",PASS,PASS,ENST00000470026.5,c.-98C>T,,c.-98C>T,5_prime_UTR_variant,Benign/Likely benign,125464,,240,456182,0.0005261058086465489,0,0,nfe,0.00080171,6.40,,0.0200,0.0100,-0.0400,,,16,50146,0,0,9,42572,0,0,0,14262,0,0,0,14386,0,0,1,22966,0,0,0,3076,0,0,205,226954,0,0,0,912,0,0,0,64558,0,0,9,16350,0,0