Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100125177-T-C c.*199A>G splice_region ADH6 1 61298 1.63137E-5 30649 0 NA
4-100125387-G-A p.Leu373Leu synonymous ADH6 4 79318 5.04299E-5 39659 0 1.68495E-5
4-100125395-C-T p.Arg370His missense ADH6 3 79210 3.7874E-5 39605 0 7.2551E-5
4-100125396-G-A p.Arg370Cys missense ADH6 2 79264 2.52321E-5 39632 0 0.001875
4-100125403-GAAA-G c.1104-6_1104-4delTTT splice_region ADH6 2 79262 2.52328E-5 39631 0 8.4568E-6
4-100126083-A-AT p.Trp368fs frameshift ADH6 1 83062 1.20392E-5 41531 0 NA
4-100126086-T-G p.Lys367Gln missense ADH6 7 83056 8.42805E-5 41528 0 2.54858E-4
4-100126089-C-T p.Gly366Arg missense ADH6 4 83066 4.81545E-5 41533 0 1.23076E-5
4-100126090-A-AATAT p.Gly366fs frameshift ADH6 1 83068 1.20383E-5 41534 0 NA
4-100126091-G-GGA p.Thr365fs frameshift ADH6 1 83062 1.20392E-5 41531 0 NA
4-100126105-A-G p.Val360Val synonymous ADH6 1 83038 1.20427E-5 41519 0 8.37914E-6
4-100126106-A-G p.Val360Ala missense ADH6 10 83042 1.20421E-4 41521 0 9.55718E-5
4-100126106-A-C p.Val360Gly missense ADH6 2 83042 2.40842E-5 41521 0 4.06679E-6
4-100126109-G-C p.Ala359Gly missense ADH6 13 83034 1.56562E-4 41517 0 1.46075E-4
4-100126109-G-A p.Ala359Val missense ADH6 1 83034 1.20433E-5 41517 0 8.35073E-6
4-100126117-G-A p.Ile356Ile synonymous ADH6 1 83044 1.20418E-5 41522 0 NA
4-100126124-T-C p.Asp354Gly missense ADH6 1 83008 1.2047E-5 41504 0 NA
4-100126136-G-A p.Thr350Ile missense ADH6 1 82982 1.20508E-5 41491 0 NA
4-100126140-GAGTAATT-G p.Thr348fs frameshift ADH6 46 82982 5.54337E-4 41491 0 7.9628E-4
4-100126140-G-A p.His349Tyr missense ADH6 1 82982 1.20508E-5 41491 0 9.93838E-5
4-100126147-T-G p.Leu346Leu synonymous ADH6 23 82960 2.77242E-4 41480 0 0.00302115
4-100126150-T-C p.Pro345Pro synonymous ADH6 1 82982 1.20508E-5 41491 0 NA
4-100126156-T-C p.Leu343Leu synonymous ADH6 1 82980 1.20511E-5 41490 0 8.2776E-6
4-100126157-A-G p.Leu343Pro missense ADH6 1 82970 1.20525E-5 41485 0 2.48291E-5
4-100126168-C-A p.Glu339Asp missense ADH6 1 82952 1.20552E-5 41476 0 NA
4-100126173-C-T p.Trp292* stop_gained ADH6 1 82880 1.20656E-5 41440 0 NA
4-100126175-A-T p.Met337Lys missense ADH6 1 82882 1.20653E-5 41441 0 NA
4-100126180-A-G p.Ile290Thr missense ADH6 6 82862 7.24096E-5 41431 0 6.3678E-5
4-100126203-G-A p.His328Tyr missense ADH6 1 82150 1.21729E-5 41075 0 NA
4-100126206-G-C p.Gln327Glu missense ADH6 2 81980 2.43962E-5 40990 0 6.25E-4
4-100126214-T-C p.Lys324Arg missense ADH6 2 81836 2.44391E-5 40918 0 4.63508E-6
4-100126217-C-A p.Gly278* stop_gained ADH6 1 81814 1.22228E-5 40907 0 1.69799E-5
4-100128603-C-G p.Gly322Arg missense+splice_region ADH6 4 83346 4.79927E-5 41673 0 3.18413E-5
4-100128622-C-A p.Leu315Phe missense ADH6 1 83362 1.19959E-5 41681 0 NA
4-100128625-A-T p.Ser314Ser synonymous ADH6 2 83366 2.39906E-5 41683 0 NA
4-100128629-C-T p.Arg313His missense ADH6 1 83364 1.19956E-5 41682 0 9.5584E-5
4-100128630-G-A p.Arg313Cys missense ADH6 1 83366 1.19953E-5 41683 0 8.2428E-6
4-100128640-GAAC-G p.Leu308del disruptive_inframe_deletion ADH6 1 83362 1.19959E-5 41681 0 NA
4-100128641-A-G p.Phe309Ser missense ADH6 1 83368 1.1995E-5 41684 0 NA
4-100128653-C-T p.Ser305Asn missense ADH6 1 83360 1.19962E-5 41680 0 NA
4-100128656-A-AT p.Ile304fs frameshift ADH6 2 83358 2.39929E-5 41679 0 NA
4-100128672-T-C p.Ser299Gly missense ADH6 4 83354 4.79881E-5 41677 0 9.55475E-5
4-100128690-C-A p.Val293Phe missense ADH6 1 83336 1.19996E-5 41668 0 8.25191E-6
4-100128692-A-C p.Val292Gly missense ADH6 1 83326 1.20011E-5 41663 0 3.98321E-6
4-100128712-C-G p.Glu285Asp missense ADH6 2 83248 2.40246E-5 41624 0 8.27048E-6
4-100128726-C-T p.Ala281Thr missense ADH6 6 83164 7.21466E-5 41582 0 1.03778E-4
4-100128727-G-A p.Leu280Leu synonymous ADH6 4 83160 4.81E-5 41580 0 2.49323E-5
4-100128730-G-A p.Ala279Ala synonymous ADH6 3 83136 3.60855E-5 41568 0 3.59302E-5
4-100128731-G-A p.Ala279Val missense ADH6 1 83126 1.20299E-5 41563 0 NA
4-100128743-T-C c.829-5A>G splice_region ADH6 1 83036 1.2043E-5 41518 0 NA
4-100129818-T-A c.828+7A>T splice_region ADH6 1 82770 1.20817E-5 41385 0 NA
4-100129830-C-T p.Val275Ile missense ADH6 2 82854 2.41388E-5 41427 0 2.52164E-5
4-100129831-G-A p.Asp274Asp synonymous ADH6 1 82848 1.20703E-5 41424 0 6.36943E-5
4-100129835-A-G p.Leu273Pro missense ADH6 4 82882 4.82614E-5 41441 0 NA
4-100129839-T-G p.Asn272His missense ADH6 1 82888 1.20645E-5 41444 0 1.66251E-5
4-100129843-A-G p.Ile270Ile synonymous ADH6 1 82924 1.20592E-5 41462 0 3.99827E-6
4-100129868-C-A p.Gly262Val missense ADH6 2 83134 2.40575E-5 41567 0 NA
4-100129871-G-C p.Ala261Gly missense ADH6 3 83142 3.60828E-5 41571 0 2.47345E-5
4-100129879-C-G p.Met258Ile missense ADH6 1 83190 1.20207E-5 41595 0 8.24131E-6
4-100129883-T-C p.Asp257Gly missense ADH6 1 83206 1.20184E-5 41603 0 NA
4-100129905-GTTTC-G p.Lys248fs frameshift ADH6 1 83236 1.2014E-5 41618 0 3.18552E-5
4-100129907-T-A p.Lys249Ile missense ADH6 1 83232 1.20146E-5 41616 0 NA
4-100129933-C-A p.Glu240Asp missense ADH6 1 83234 1.20143E-5 41617 0 3.97833E-6
4-100129942-A-C p.Gly237Gly synonymous ADH6 1 83228 1.20152E-5 41614 0 NA
4-100129943-C-T p.Gly237Asp missense ADH6 2 83224 2.40315E-5 41612 0 3.58066E-5
4-100129950-C-T p.Glu235Lys missense ADH6 1 83220 1.20163E-5 41610 0 5.03525E-4
4-100129969-C-T p.Glu228Glu synonymous ADH6 4 83148 4.8107E-5 41574 0 6.36943E-5
4-100129973-T-TTG p.Lys227fs frameshift ADH6 1 83138 1.20282E-5 41569 0 NA
4-100129975-G-A p.Asn226Asn synonymous ADH6 1 83110 1.20322E-5 41555 0 8.24008E-6
4-100129976-T-TGTTCCA p.Asn226delinsMetGluHis conservative_inframe_insertion ADH6 1 83106 1.20328E-5 41553 0 NA
4-100129978-G-T p.Val225Val synonymous ADH6 1 83084 1.2036E-5 41542 0 NA
4-100129979-A-C p.Val225Gly missense ADH6 1 83082 1.20363E-5 41541 0 NA
4-100129985-A-G p.Val223Ala missense ADH6 3 83030 3.61315E-5 41515 0 3.18959E-5
4-100129991-A-G p.Ile221Thr missense ADH6 4 82980 4.82044E-5 41490 0 8.24552E-6
4-100130004-C-T p.Ala217Thr missense ADH6 20 82890 2.41284E-4 41445 0 1.40171E-4
4-100130023-C-T p.Met1? start_lost ADH6 11 82842 1.32783E-4 41421 0 5.03525E-4
4-100130029-A-G p.Val208Val synonymous ADH6 1 82824 1.20738E-5 41412 0 3.98692E-6
4-100130040-C-T p.Gly205Ser missense ADH6 3 82760 3.62494E-5 41380 0 3.18634E-5
4-100130041-G-A c.-16C>T 5_prime_UTR_premature_start_codon_gain ADH6 4 82732 4.83489E-5 41366 0 2.47758E-5
4-100130043-C-T p.Val204Ile missense ADH6 4 82736 4.83465E-5 41368 0 3.18593E-5
4-100130043-C-CTGTG p.Val204fs frameshift ADH6 1 82736 1.20866E-5 41368 0 NA
4-100130045-CCT-C p.Gly203fs frameshift ADH6 1 82742 1.20858E-5 41371 0 NA
4-100130045-C-G p.Gly203Ala missense ADH6 1 82742 1.20858E-5 41371 0 NA
4-100130053-G-A p.Gly200Gly synonymous ADH6 1 82660 1.20978E-5 41330 0 NA
4-100130058-A-C p.Phe199Val missense ADH6 2 82652 2.41978E-5 41326 0 1.1975E-5
4-100130059-C-T p.Val198Val synonymous ADH6 465 82620 0.00562818 41310 3 0.0121695
4-100130075-C-A p.Gly193Val missense ADH6 9 82432 1.09181E-4 41216 0 8.43055E-5
4-100130076-C-G p.Gly193Arg missense ADH6 1 82422 1.21327E-5 41211 0 NA
4-100131233-C-T c.567+6G>A splice_region ADH6 1 82436 1.21306E-5 41218 0 9.98602E-5
4-100131236-C-A c.567+3G>T splice_region ADH6 1 82512 1.21194E-5 41256 0 3.59304E-5
4-100131255-G-A p.Ala184Val missense ADH6 1 82730 1.20875E-5 41365 0 NA
4-100131260-A-G p.Gly182Gly synonymous ADH6 2 82774 2.41622E-5 41387 0 1.19552E-5
4-100131266-C-T p.Gly180Gly synonymous ADH6 136 82826 0.001642 41413 0 0.00141166
4-100131273-GA-G p.Ser178fs frameshift ADH6 1 82878 1.20659E-5 41439 0 3.9841E-6
4-100131283-A-G p.Cys175Arg missense ADH6 1 82932 1.20581E-5 41466 0 0.00125
4-100131291-A-C p.Leu172Arg missense ADH6 31 82956 3.73692E-4 41478 0 4.45618E-4
4-100131302-C-G p.Glu168Asp missense ADH6 2 83018 2.40912E-5 41509 0 1.19465E-5
4-100131313-C-T p.Ala165Thr missense ADH6 2 83030 2.40877E-5 41515 0 1.98049E-4
4-100131314-G-A p.Val164Val synonymous ADH6 1 83048 1.20412E-5 41524 0 3.98216E-6
4-100131324-A-G p.Ile161Thr missense ADH6 2 83042 2.40842E-5 41521 0 NA
4-100131331-C-T p.Ala159Thr missense ADH6 2 83032 2.40871E-5 41516 0 2.38945E-5
4-100131340-T-C p.Ile156Val missense ADH6 3 83042 3.61263E-5 41521 0 2.47619E-5
4-100131347-T-C p.Ile153Met missense ADH6 1 83042 1.20421E-5 41521 0 3.98302E-6
4-100131358-A-G p.Tyr150His missense ADH6 2 83038 2.40854E-5 41519 0 NA
4-100131374-G-A p.Thr144Thr synonymous ADH6 1 83058 1.20398E-5 41529 0 NA
4-100131379-T-C p.Asn143Asp missense ADH6 2 83040 2.40848E-5 41520 0 1.65259E-5
4-100131384-A-G p.Phe141Ser missense ADH6 1 83044 1.20418E-5 41522 0 NA
4-100131411-G-C p.Thr132Ser missense ADH6 1 83030 1.20438E-5 41515 0 NA
4-100131413-A-G p.Phe131Phe synonymous ADH6 1 83030 1.20438E-5 41515 0 6.36821E-5
4-100131417-C-G p.Arg130Thr missense ADH6 1 83016 1.20459E-5 41508 0 NA
4-100131426-C-A p.Gly127Val missense ADH6 1 83004 1.20476E-5 41502 0 8.2813E-6
4-100131432-G-C p.Ser125Cys missense ADH6 1 82984 1.20505E-5 41492 0 8.28555E-6
4-100131438-A-G p.Leu123Pro missense ADH6 1 82986 1.20502E-5 41493 0 NA
4-100131444-G-A p.Thr121Ile missense ADH6 7 82968 8.43699E-5 41484 0 1.27445E-4
4-100131450-G-T p.Ser119* stop_gained ADH6 2 82962 2.41074E-5 41481 0 NA
4-100131460-T-C c.351-5A>G splice_region ADH6 7 82936 8.44024E-5 41468 0 6.36821E-5
4-100131462-T-A c.351-7A>T splice_region ADH6 9 82936 1.08517E-4 41468 0 4.40176E-5
4-100131571-CT-C p.Lys117fs frameshift ADH6 1 82884 1.20651E-5 41442 0 1.99928E-5
4-100131582-T-C p.Ile114Val missense ADH6 430 82886 0.00518785 41443 8 0.00869704
4-100131584-C-T p.Cys113Tyr missense ADH6 1 82906 1.20619E-5 41453 0 NA
4-100131586-A-G c.-75T>C 5_prime_UTR_premature_start_codon_gain ADH6 2 82918 2.41202E-5 41459 0 NA
4-100131595-C-T p.Glu109Glu synonymous ADH6 3 82934 3.61733E-5 41467 0 NA
4-100131611-G-A p.Ser104Phe missense ADH6 3 82970 3.61576E-5 41485 0 1.19505E-5
4-100131618-A-C p.Cys102Gly missense ADH6 25 83000 3.01205E-4 41500 0 9.91542E-4
4-100131628-CTG-C p.Gln98fs frameshift ADH6 1 82958 1.20543E-5 41479 0 3.98365E-6
4-100131647-A-G p.Ile92Thr missense ADH6 1 82796 1.20779E-5 41398 0 3.1839E-5
4-100131662-A-G c.263-3T>C splice_region ADH6 1 82600 1.21065E-5 41300 0 4.01664E-6
4-100134761-A-G c.262+2T>C splice_donor ADH6 1 82956 1.20546E-5 41478 0 3.18492E-5
4-100134769-T-G p.Lys86Gln missense ADH6 2 83048 2.40825E-5 41524 0 NA
4-100134792-A-G p.Ile78Thr missense ADH6 13 83250 1.56156E-4 41625 0 5.05025E-4
4-100134802-C-T p.Val75Ile missense ADH6 3 83282 3.60222E-5 41641 0 3.58772E-5
4-100134802-C-G p.Val75Leu missense ADH6 1 83282 1.20074E-5 41641 0 1.59454E-5
4-100134803-G-A p.Ile74Ile synonymous ADH6 4 83282 4.80296E-5 41641 0 3.18634E-5
4-100134813-C-T p.Gly71Glu missense ADH6 2 83298 2.40102E-5 41649 0 NA
4-100134821-G-A p.Gly68Gly synonymous ADH6 24 83330 2.88012E-4 41665 0 4.46286E-4
4-100134821-G-T p.Gly68Gly synonymous ADH6 3 83330 3.60014E-5 41665 0 NA
4-100134829-T-C p.Ile66Val missense ADH6 1 83342 1.19988E-5 41671 0 NA
4-100134833-G-A p.Pro64Pro synonymous ADH6 1 83338 1.19993E-5 41669 0 8.25042E-6
4-100134836-A-T p.Tyr63* stop_gained ADH6 2 83344 2.39969E-5 41672 0 1.64981E-5
4-100134857-A-C p.Ser56Arg missense ADH6 1 83348 1.19979E-5 41674 0 NA
4-100134862-C-G p.Gly55Arg missense ADH6 1 83354 1.1997E-5 41677 0 NA
4-100134865-A-G p.Leu54Leu synonymous ADH6 1 83352 1.19973E-5 41676 0 2.48118E-5
4-100134877-C-G p.Glu50Gln missense ADH6 1 83348 1.19979E-5 41674 0 NA
4-100134888-A-G p.Leu46Pro missense ADH6 5 83318 6.0011E-5 41659 0 1.27348E-4
4-100134892-C-T p.Gly45Arg missense ADH6 15 83304 1.80063E-4 41652 0 0.00453172
4-100134893-G-A p.Thr44Thr synonymous ADH6 20 83298 2.40102E-4 41649 0 1.31463E-4
4-100134902-A-G p.Val41Val splice_region+synonymous ADH6 1 83200 1.20192E-5 41600 0 3.1841E-5
4-100134909-A-G c.121-5T>C splice_region ADH6 3 83164 3.60733E-5 41582 0 NA
4-100134910-T-A c.121-6A>T splice_region ADH6 1 83168 1.20239E-5 41584 0 4.22844E-6
4-100137310-T-C c.120+8A>G splice_region ADH6 2 79252 2.5236E-5 39626 0 1.39402E-4
4-100137313-TTTA-T c.120+2_120+4delTAA splice_donor ADH6 1 79708 1.25458E-5 39854 0 3.42067E-5
4-100137314-TTA-T c.120+2_120+3delTA splice_donor ADH6 1 79340 1.2604E-5 39670 0 7.91005E-5
4-100137315-TAC-T c.120+1_120+2delGT splice_donor ADH6 6 78522 7.64117E-5 39261 0 7.78788E-4
4-100137315-TACC-T p.Val41fs frameshift ADH6 7 77844 8.99234E-5 38922 0 0.00400921
4-100137315-TA-T c.120+2delT splice_donor ADH6 17 78556 2.16406E-4 39278 0 4.8259E-4
4-100137316-A-T c.120+2T>A splice_donor ADH6 2 74608 2.68068E-5 37304 0 0.0549699
4-100137316-ACC-TCT p.Lys40Lys splice_donor ADH6 1 75566 1.32335E-5 37783 0 NA
4-100137317-C-T c.120+1G>A splice_donor ADH6 3 76350 3.92927E-5 38175 0 0.0128091
4-100137318-C-T p.Lys40Lys splice_region+synonymous ADH6 2 75472 2.64999E-5 37736 0 0.0466059
4-100137318-C-CTT p.Val41fs frameshift ADH6 1 77674 1.28743E-5 38837 0 5.66893E-4
4-100137318-C-CTTTT p.Val41fs frameshift ADH6 1 77434 1.29142E-5 38717 0 0.00418084
4-100137322-A-T p.Ile39Lys missense ADH6 9 75282 1.1955E-4 37641 0 0.0235696
4-100137325-C-T p.Arg38His missense ADH6 1 78680 1.27097E-5 39340 0 5.4609E-5
4-100137326-G-A p.Arg38Cys missense ADH6 5 79000 6.32911E-5 39500 0 4.76508E-5
4-100137330-T-C p.Glu36Glu synonymous ADH6 242 80246 0.00301573 40123 0 0.00389736
4-100137339-C-T p.Lys33Lys synonymous ADH6 3 81398 3.68559E-5 40699 0 4.95999E-5
4-100137340-T-C p.Lys33Arg missense ADH6 1 81678 1.22432E-5 40839 0 4.57189E-6
4-100137345-T-C p.Pro31Pro synonymous ADH6 6 81716 7.3425E-5 40858 0 1.02389E-4
4-100137366-A-G p.Ile24Ile synonymous ADH6 1 82502 1.21209E-5 41251 0 NA
4-100137367-A-G p.Ile24Thr missense ADH6 1 82580 1.21095E-5 41290 0 8.24416E-6
4-100137377-GTGCAC-G p.Gly19fs frameshift ADH6 2 82696 2.4185E-5 41348 0 NA
4-100137384-A-C p.Pro18Pro synonymous ADH6 2 82744 2.41709E-5 41372 0 8.24498E-6
4-100137390-C-G p.Trp16Cys missense ADH6 2 82710 2.41809E-5 41355 0 8.24606E-6
4-100137398-T-C p.Ile14Val missense ADH6 2 82598 2.42137E-5 41299 0 3.23541E-5
4-100137402-T-C p.Ala12Ala synonymous ADH6 2 82468 2.42518E-5 41234 0 NA
4-100137403-G-A p.Ala12Val missense ADH6 1 82424 1.21324E-5 41212 0 NA
4-100140282-CTG-C c.18+8_18+9delCA splice_region ADH6 1 82524 1.21177E-5 41262 0 1.99251E-5
4-100140295-G-A p.Gly5Gly synonymous ADH6 1 82646 1.20998E-5 41323 0 NA
4-100140301-A-G p.Thr3Thr synonymous ADH6 1 82666 1.20969E-5 41333 0 NA
4-100140306-A-T p.Cys2Ser missense ADH6 82590 82614 0.999709 41307 41284 1.0
4-100140397-G-A c.-88C>T 5_prime_UTR_premature_start_codon_gain ADH6 2 80336 2.48954E-5 40168 0 NA
4-100140523-G-A c.-214C>T 5_prime_UTR_premature_start_codon_gain ADH6 1 55378 1.80577E-5 27689 0 NA
4-100140642-A-C c.-333T>G 5_prime_UTR_premature_start_codon_gain ADH6 1 19910 5.0226E-5 9955 0 6.36821E-5