Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
8-107773276-G-A p.Leu379Leu synonymous ABRA 1 83314 1.20028E-5 41657 0 NA
8-107773277-C-T p.Thr378Thr synonymous ABRA 6 83316 7.2015E-5 41658 0 1.27364E-4
8-107773278-G-A p.Thr378Met missense ABRA 2 83322 2.40033E-5 41661 0 1.23385E-4
8-107773280-A-C p.Ile377Met missense ABRA 34 83324 4.08046E-4 41662 0 1.63161E-4
8-107773292-G-A p.Asp373Asp synonymous ABRA 3 83328 3.60023E-5 41664 0 5.03525E-4
8-107773301-G-A p.Gly370Gly synonymous ABRA 2 83328 2.40015E-5 41664 0 3.18451E-5
8-107773303-C-T p.Gly370Ser missense ABRA 4 83330 4.80019E-5 41665 0 2.54696E-4
8-107773307-C-T p.Trp368* stop_gained ABRA 2 83336 2.39992E-5 41668 0 NA
8-107773309-A-G p.Trp368Arg missense ABRA 6 83334 7.19994E-5 41667 0 3.1839E-5
8-107773314-A-T p.Met366Lys missense ABRA 3 83332 3.60006E-5 41666 1 6.25E-4
8-107773321-C-G p.Gly364Arg missense ABRA 1 83336 1.19996E-5 41668 0 NA
8-107773333-C-G p.Val360Leu missense ABRA 1 83346 1.19982E-5 41673 0 7.95298E-6
8-107773336-G-A p.Leu359Leu synonymous ABRA 1 83348 1.19979E-5 41674 0 3.1841E-5
8-107773348-T-C p.Arg355Gly missense ABRA 1 83356 1.19967E-5 41678 0 2.47093E-5
8-107773353-C-T p.Arg353His missense ABRA 2 83344 2.39969E-5 41672 0 1.64728E-5
8-107773354-G-A p.Arg353Cys missense ABRA 1 83348 1.19979E-5 41674 0 1.98823E-5
8-107773362-A-G p.Ile350Thr missense ABRA 1 83348 1.19979E-5 41674 0 NA
8-107773366-C-T p.Gly349Ser missense ABRA 3 83348 3.59937E-5 41674 0 3.18471E-5
8-107773371-A-T p.Val347Glu missense ABRA 1 83352 1.19973E-5 41676 0 1.98817E-5
8-107773378-C-A p.Asp345Tyr missense ABRA 1 83352 1.19973E-5 41676 0 3.97636E-6
8-107773386-C-T p.Arg342His missense ABRA 2 83340 2.39981E-5 41670 0 3.57887E-5
8-107773387-G-A p.Arg342Cys missense ABRA 1 83342 1.19988E-5 41671 0 3.29457E-5
8-107773390-C-T p.Val341Ile missense ABRA 1 83340 1.1999E-5 41670 0 3.18431E-5
8-107773391-G-A p.Tyr340Tyr synonymous ABRA 6 83336 7.19977E-5 41668 0 5.03525E-4
8-107773399-CAA-C p.Phe337fs frameshift ABRA 1 83338 1.19993E-5 41669 0 NA
8-107773402-A-G p.Phe337Leu missense ABRA 1 83334 1.19999E-5 41667 0 NA
8-107773412-A-C p.Phe333Leu missense ABRA 20 83332 2.40004E-4 41666 0 2.06774E-4
8-107773413-A-G p.Phe333Ser missense ABRA 2 83330 2.4001E-5 41665 0 3.97649E-6
8-107773420-C-T p.Val331Ile missense ABRA 1 83334 1.19999E-5 41667 0 3.97646E-6
8-107773420-C-A p.Val331Phe missense ABRA 1 83334 1.19999E-5 41667 0 3.1841E-5
8-107773421-C-T p.Gln330Gln synonymous ABRA 1 83334 1.19999E-5 41667 0 3.97649E-6
8-107773437-C-T p.Arg325Gln missense ABRA 2 83344 2.39969E-5 41672 0 6.3674E-5
8-107773440-C-G p.Arg324Thr missense ABRA 1 83340 1.1999E-5 41670 0 NA
8-107773442-G-A p.His323His synonymous ABRA 1 83346 1.19982E-5 41673 0 NA
8-107773446-C-G p.Arg322Pro missense ABRA 2 83340 2.39981E-5 41670 0 0.00151057
8-107773452-A-G p.Met320Thr missense ABRA 2 83350 2.39952E-5 41675 0 3.97659E-6
8-107773454-T-C p.Thr319Thr synonymous ABRA 1 83344 1.19985E-5 41672 0 3.97659E-6
8-107773471-A-C p.Cys314Gly missense ABRA 1 83350 1.19976E-5 41675 0 8.2375E-6
8-107773474-T-C p.Met313Val missense ABRA 4 83352 4.79893E-5 41676 0 1.19299E-5
8-107773477-C-A p.Asp312Tyr missense ABRA 2 83352 2.39946E-5 41676 0 8.23791E-6
8-107773479-A-G p.Met311Thr missense ABRA 1 83354 1.1997E-5 41677 0 8.2375E-6
8-107773488-C-G p.Arg308Thr missense ABRA 1 83358 1.19964E-5 41679 0 3.57918E-5
8-107773510-G-A p.Arg301Cys missense ABRA 7 83356 8.39772E-5 41678 0 1.31229E-4
8-107773522-C-G p.Glu297Gln missense ABRA 3 83356 3.59902E-5 41678 0 1.27356E-4
8-107773537-C-T p.Gly292Arg missense ABRA 1 83366 1.19953E-5 41683 0 NA
8-107773548-C-T p.Arg288His missense ABRA 1 83354 1.1997E-5 41677 0 1.19308E-5
8-107773559-C-T p.Glu284Glu synonymous ABRA 1 83368 1.1995E-5 41684 0 3.97652E-6
8-107773571-G-C p.His280Gln missense ABRA 2 83368 2.399E-5 41684 1 NA
8-107773578-C-T p.Arg278His missense ABRA 1 83358 1.19964E-5 41679 0 5.16964E-5
8-107773579-G-A p.Arg278Cys missense ABRA 7 83364 8.39691E-5 41682 0 3.29527E-5
8-107773587-A-G p.Met275Thr missense ABRA 1 83346 1.19982E-5 41673 0 7.95305E-6
8-107773593-A-G p.Leu273Pro missense ABRA 1 83350 1.19976E-5 41675 0 NA
8-107773595-C-T p.Glu272Glu synonymous ABRA 17 83344 2.03974E-4 41672 0 1.59236E-4
8-107773598-G-A p.Tyr271Tyr synonymous ABRA 7 83346 8.39872E-5 41673 0 0.00100705
8-107773603-C-T p.Asp270Asn missense ABRA 1 83360 1.19962E-5 41680 0 NA
8-107773605-A-G p.Phe269Ser missense ABRA 4 83364 4.79823E-5 41682 0 3.18431E-5
8-107773605-AACTCTTC-A p.Glu267fs frameshift ABRA 1 83364 1.19956E-5 41682 0 NA
8-107773623-T-C p.Asn263Ser missense ABRA 11 83356 1.31964E-4 41678 0 4.3739E-4
8-107773628-C-T p.Lys261Lys synonymous ABRA 5 83354 5.99851E-5 41677 0 6.36862E-5
8-107773634-G-C p.Ser259Ser synonymous ABRA 2 83352 2.39946E-5 41676 0 3.18532E-5
8-107773636-A-G p.Ser259Pro missense ABRA 10 83352 1.19973E-4 41676 0 1.23554E-4
8-107773654-CCCACTGCTG-C p.Gln250_Trp252del conservative_inframe_deletion ABRA 1 83340 1.1999E-5 41670 0 3.18471E-5
8-107773661-C-T p.Gln250Gln synonymous ABRA 1 83328 1.20008E-5 41664 0 5.56709E-5
8-107773663-G-A p.Gln250* stop_gained ABRA 3 83330 3.60014E-5 41665 0 3.29571E-5
8-107773668-C-T p.Arg248Lys missense ABRA 2 83328 2.40015E-5 41664 0 1.27256E-4
8-107773675-T-C p.Lys246Glu missense ABRA 2148 83262 0.0257981 41631 31 0.046875
8-107773680-T-C p.Asn244Ser missense ABRA 2 83276 2.40165E-5 41638 0 3.1837E-5
8-107773682-GC-G p.Gly243fs frameshift ABRA 1 83270 1.20091E-5 41635 0 8.24987E-6
8-107773690-G-A p.Pro241Ser missense ABRA 1 83260 1.20106E-5 41630 0 NA
8-107773709-T-C p.Lys234Lys synonymous ABRA 2 83052 2.40813E-5 41526 0 1.66337E-5
8-107773711-T-C p.Lys234Glu missense ABRA 1 82980 1.20511E-5 41490 0 5.03525E-4
8-107773718-G-C p.Leu231Leu synonymous ABRA 1 82820 1.20744E-5 41410 0 NA
8-107773719-A-G p.Leu231Pro missense ABRA 10 82806 1.20764E-4 41403 0 4.38919E-5
8-107773728-G-A p.Thr228Ile missense ABRA 1 82564 1.21118E-5 41282 0 6.77369E-5
8-107773734-C-T p.Arg226Lys missense ABRA 1 82446 1.21292E-5 41223 0 8.53767E-6
8-107773742-C-G p.Gln223His missense+splice_region ABRA 1 82170 1.21699E-5 41085 0 1.21314E-5
8-107781745-A-G c.668+6T>C splice_region ABRA 1 82946 1.2056E-5 41473 0 NA
8-107781756-G-A p.Pro221Pro synonymous ABRA 1 83070 1.2038E-5 41535 0 1.69517E-5
8-107781759-C-T p.Leu220Leu synonymous ABRA 2 83072 2.40755E-5 41536 0 NA
8-107781761-A-AG p.Pro221fs frameshift ABRA 1 83118 1.20311E-5 41559 0 NA
8-107781761-A-G p.Leu220Leu synonymous ABRA 1 83118 1.20311E-5 41559 0 8.83052E-5
8-107781766-C-T p.Arg218His missense ABRA 11 83116 1.32345E-4 41558 0 6.25E-4
8-107781768-CT-C p.Lys217fs frameshift ABRA 2 83136 2.4057E-5 41568 0 NA
8-107781769-T-C p.Lys217Arg missense ABRA 3 83152 3.60785E-5 41576 0 1.20088E-5
8-107781795-T-A p.Gly208Gly synonymous ABRA 1 83236 1.2014E-5 41618 0 NA
8-107781806-C-T p.Glu205Lys missense ABRA 1 83260 1.20106E-5 41630 0 NA
8-107781807-G-A p.Pro204Pro synonymous ABRA 3 83268 3.60282E-5 41634 0 2.47174E-5
8-107781811-C-T p.Arg203Lys missense ABRA 4 83284 4.80284E-5 41642 0 4.94299E-5
8-107781826-C-T p.Gly198Glu missense ABRA 1 83306 1.20039E-5 41653 0 3.1841E-5
8-107781829-C-T p.Gly197Glu missense ABRA 2 83310 2.40067E-5 41655 0 8.23683E-6
8-107781832-T-C p.Tyr196Cys missense ABRA 1 83312 1.20031E-5 41656 0 NA
8-107781835-C-A p.Gly195Val missense ABRA 1 83320 1.20019E-5 41660 0 NA
8-107781836-C-T p.Gly195Ser missense ABRA 1 83318 1.20022E-5 41659 0 3.18552E-5
8-107781854-C-T p.Val189Ile missense ABRA 3 83342 3.59963E-5 41671 0 6.37064E-5
8-107781855-G-A p.Ser188Ser synonymous ABRA 1 83338 1.19993E-5 41669 0 8.23655E-6
8-107781855-G-C p.Ser188Arg missense ABRA 1 83338 1.19993E-5 41669 0 3.97655E-5
8-107781872-T-C p.Thr183Ala missense ABRA 1 83350 1.19976E-5 41675 0 8.23642E-6
8-107781903-C-T p.Lys172Lys synonymous ABRA 11 83354 1.31967E-4 41677 0 5.24876E-4
8-107781932-A-G p.Cys163Arg missense ABRA 2 83374 2.39883E-5 41687 0 2.47093E-5
8-107781939-C-T p.Arg160Arg synonymous ABRA 7 83376 8.3957E-5 41688 0 3.97649E-5
8-107781943-C-T p.Arg159Gln missense ABRA 2 83376 2.39877E-5 41688 0 8.23642E-6
8-107781943-C-G p.Arg159Pro missense ABRA 1 83376 1.19939E-5 41688 0 NA
8-107781944-G-A p.Arg159Trp missense ABRA 1 83376 1.19939E-5 41688 0 9.56023E-5
8-107781944-G-T p.Arg159Arg synonymous ABRA 1 83376 1.19939E-5 41688 0 7.95317E-6
8-107781946-G-A p.Thr158Met missense ABRA 1 83384 1.19927E-5 41692 0 3.18634E-5
8-107781956-C-T p.Gly155Ser missense ABRA 1 83390 1.19918E-5 41695 0 3.97652E-6
8-107781957-G-A p.His154His synonymous ABRA 8 83390 9.59348E-5 41695 0 4.11916E-5
8-107781961-C-T p.Ser153Asn missense ABRA 2 83384 2.39854E-5 41692 0 1.19298E-5
8-107781969-G-T p.Ile150Ile synonymous ABRA 2 83378 2.39871E-5 41689 0 NA
8-107781981-G-C p.Asp146Glu missense ABRA 1 83378 1.19936E-5 41689 0 3.9764E-6
8-107781982-T-C p.Asp146Gly missense ABRA 1 83378 1.19936E-5 41689 0 NA
8-107781983-C-A p.Asp146Tyr missense ABRA 2 83376 2.39877E-5 41688 0 NA
8-107781985-T-C p.Asn145Ser missense ABRA 1 83376 1.19939E-5 41688 0 NA
8-107781987-C-T p.Glu144Glu synonymous ABRA 1 83382 1.1993E-5 41691 0 3.97646E-6
8-107782000-G-C p.Pro140Arg missense ABRA 2 83380 2.39866E-5 41690 0 NA
8-107782001-G-A p.Pro140Ser missense ABRA 3 83380 3.59799E-5 41690 0 1.19288E-5
8-107782025-C-A p.Glu132* stop_gained ABRA 1 83388 1.19921E-5 41694 0 1.59051E-5
8-107782026-G-A p.Tyr131Tyr synonymous ABRA 20 83388 2.39843E-4 41694 0 1.82908E-4
8-107782029-C-T p.Arg130Arg synonymous ABRA 1 83394 1.19913E-5 41697 0 3.97624E-6
8-107782033-T-G p.His129Pro missense ABRA 1 83388 1.19921E-5 41694 0 3.97624E-6
8-107782049-C-T p.Val124Met missense ABRA 2 83376 2.39877E-5 41688 0 8.23642E-6
8-107782050-G-A p.Asp123Asp synonymous ABRA 2 83372 2.39889E-5 41686 0 2.47093E-5
8-107782053-C-T p.Gly122Gly synonymous ABRA 11 83378 1.31929E-4 41689 0 9.55962E-5
8-107782054-C-T p.Gly122Glu missense ABRA 1 83380 1.19933E-5 41690 0 NA
8-107782058-C-T p.Gly121Arg missense ABRA 1 83380 1.19933E-5 41690 0 3.97624E-6
8-107782065-A-G p.Tyr118Tyr synonymous ABRA 12949 83296 0.155458 41648 1121 0.19285
8-107782074-G-T p.Ser115Arg missense ABRA 2 83392 2.39831E-5 41696 0 6.58913E-5
8-107782074-G-A p.Ser115Ser synonymous ABRA 1 83392 1.19916E-5 41696 0 8.23642E-6
8-107782075-C-A p.Ser115Ile missense ABRA 1 83392 1.19916E-5 41696 0 8.23642E-6
8-107782084-G-A p.Thr112Met missense ABRA 16 83388 1.91874E-4 41694 0 6.25E-4
8-107782084-G-T p.Thr112Lys missense ABRA 1 83388 1.19921E-5 41694 0 3.18573E-5
8-107782090-G-A p.Ser110Phe missense ABRA 120 83398 0.00143888 41699 1 0.00264517
8-107782105-T-C p.Lys105Arg missense ABRA 1 83388 1.19921E-5 41694 0 1.19288E-5
8-107782109-T-C p.Ile104Val missense ABRA 1 83388 1.19921E-5 41694 0 NA
8-107782110-G-A p.His103His synonymous ABRA 1 83390 1.19918E-5 41695 0 6.58913E-5
8-107782118-C-A p.Val101Phe missense ABRA 33 83390 3.95731E-4 41695 0 3.18104E-4
8-107782140-T-C p.Gln93Gln synonymous ABRA 2 83394 2.39825E-5 41697 0 NA
8-107782152-A-C p.His89Gln missense ABRA 1 83388 1.19921E-5 41694 0 NA
8-107782156-C-T p.Gly88Glu missense ABRA 3 83384 3.59781E-5 41692 0 3.18552E-5
8-107782166-G-A p.Leu85Leu synonymous ABRA 1 83392 1.19916E-5 41696 0 1.19292E-5
8-107782167-G-A p.Arg84Arg synonymous ABRA 14 83388 1.6789E-4 41694 0 5.41643E-4
8-107782168-C-T p.Arg84His missense ABRA 21 83386 2.51841E-4 41693 0 6.25E-4
8-107782168-C-G p.Arg84Pro missense ABRA 1 83386 1.19924E-5 41693 0 1.64734E-5
8-107782169-G-A p.Arg84Cys missense ABRA 8 83382 9.5944E-5 41691 0 6.58935E-5
8-107782176-C-T p.Ser81Ser synonymous ABRA 1 83378 1.19936E-5 41689 0 8.23682E-5
8-107782177-G-A p.Ser81Leu missense ABRA 1 83366 1.19953E-5 41683 0 4.11821E-5
8-107782180-T-TTTGGGGCACTCTGAGCTTTCTGGTGTGAAGTAGGGGGTGTGA p.Ile66_Pro79dup conservative_inframe_insertion ABRA 1 83370 1.19947E-5 41685 0 1.64728E-5
8-107782187-C-T p.Ala78Thr missense ABRA 1 83366 1.19953E-5 41683 0 NA
8-107782192-T-C p.Gln76Arg missense ABRA 1 83368 1.1995E-5 41684 0 3.1902E-5
8-107782193-G-A p.Gln76* stop_gained ABRA 6 83368 7.19701E-5 41684 0 8.23642E-6
8-107782195-G-A p.Ala75Val missense ABRA 2 83362 2.39917E-5 41681 0 NA
8-107782210-G-T p.Thr70Asn missense ABRA 1 83332 1.20002E-5 41666 0 NA
8-107782219-G-T p.Thr67Lys missense ABRA 2 83302 2.4009E-5 41651 0 3.18756E-5
8-107782219-G-A p.Thr67Ile missense ABRA 3 83302 3.60135E-5 41651 0 8.23642E-5
8-107782225-G-T p.Pro65Gln missense ABRA 3 83288 3.60196E-5 41644 0 4.37442E-5
8-107782235-C-T p.Ala62Thr missense ABRA 2 83258 2.40217E-5 41629 0 6.37796E-5
8-107782247-C-A p.Asp58Tyr missense ABRA 1 83194 1.20201E-5 41597 0 NA
8-107782258-C-T p.Gly54Glu missense ABRA 2 83148 2.40535E-5 41574 0 3.97741E-6
8-107782258-C-A p.Gly54Val missense ABRA 2 83148 2.40535E-5 41574 0 NA
8-107782272-T-G p.Thr49Thr synonymous ABRA 4 83134 4.81151E-5 41567 0 6.37308E-5
8-107782272-T-C p.Thr49Thr synonymous ABRA 1 83134 1.20288E-5 41567 0 NA
8-107782278-C-T p.Glu47Glu synonymous ABRA 3 83084 3.6108E-5 41542 0 6.37918E-5
8-107782278-C-A p.Glu47Asp missense ABRA 1 83084 1.2036E-5 41542 0 5.56757E-5
8-107782309-G-C p.Ala37Gly missense ABRA 1 82992 1.20494E-5 41496 0 NA
8-107782313-A-G p.Trp36Arg missense ABRA 158 83034 0.00190283 41517 1 0.009375
8-107782327-C-T p.Arg31Gln missense ABRA 1 83024 1.20447E-5 41512 0 3.18756E-5
8-107782328-G-A p.Arg31* stop_gained ABRA 1 82992 1.20494E-5 41496 0 3.18878E-5
8-107782331-C-G p.Ala30Pro missense ABRA 1 82990 1.20496E-5 41495 0 NA
8-107782335-G-A p.Ser28Ser synonymous ABRA 20404 82124 0.248454 41062 2866 0.275428
8-107782339-A-G p.Ile27Thr missense ABRA 1 82970 1.20525E-5 41485 0 NA
8-107782354-G-C p.Thr22Arg missense ABRA 1 82854 1.20694E-5 41427 0 3.98165E-6
8-107782357-C-T p.Arg21His missense ABRA 3 82802 3.6231E-5 41401 0 4.78122E-5
8-107782358-G-A p.Arg21Cys missense ABRA 2 82792 2.41569E-5 41396 0 0.00100705
8-107782366-C-T p.Arg18Gln missense ABRA 3 82632 3.63055E-5 41316 0 8.31366E-6
8-107782367-G-A p.Arg18Trp missense ABRA 3 82566 3.63346E-5 41283 0 2.49464E-5
8-107782368-G-A p.Leu17Leu synonymous ABRA 2 82538 2.42313E-5 41269 0 8.31628E-6
8-107782371-G-A p.Ala16Ala synonymous ABRA 3 82432 3.63936E-5 41216 0 4.16667E-5
8-107782372-G-A p.Ala16Val missense ABRA 1 82378 1.21392E-5 41189 0 NA
8-107782374-G-A p.Ser15Ser synonymous ABRA 4 82240 4.86381E-5 41120 0 6.25E-4
8-107782375-C-T p.Ser15Asn missense ABRA 1 82254 1.21575E-5 41127 0 NA
8-107782378-T-C p.Lys14Arg missense ABRA 2 82214 2.43268E-5 41107 0 5.01446E-5
8-107782387-C-T p.Gly11Asp missense ABRA 1 81746 1.2233E-5 40873 0 NA
8-107782388-C-A p.Gly11Cys missense ABRA 2 81720 2.44738E-5 40860 0 NA
8-107782392-C-A p.Gly9Gly synonymous ABRA 48 81618 5.88106E-4 40809 0 3.23853E-4
8-107782394-C-T p.Gly9Arg missense ABRA 26 81534 3.18885E-4 40767 0 0.00369592
8-107782395-G-A p.Ser8Ser synonymous ABRA 29885 78858 0.378972 39429 5813 0.451158
8-107782395-G-T p.Ser8Arg missense ABRA 3 81480 3.68189E-5 40740 0 8.4674E-6
8-107782399-T-G p.Glu7Ala missense ABRA 1 81368 1.22898E-5 40684 0 NA
8-107782404-T-C p.Glu5Glu synonymous ABRA 3 81170 3.69595E-5 40585 0 NA
8-107782406-C-T p.Glu5Lys missense ABRA 6 81060 7.40192E-5 40530 0 4.40692E-5
8-107782410-C-T p.Pro3Pro synonymous ABRA 1 80770 1.23808E-5 40385 0 6.37633E-5
8-107782411-G-A p.Pro3Leu missense ABRA 3 80722 3.71646E-5 40361 0 8.8832E-5