Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-100257649-T-C c.*260A>G splice_region ADH1C 5 50864 9.83014E-5 25432 0 3.18451E-5
4-100257650-T-C c.*259A>G splice_region ADH1C 1 51040 1.95925E-5 25520 0 NA
4-100257915-C-T p.Thr374Thr synonymous ADH1C 3 83262 3.60308E-5 41631 0 6.25E-4
4-100257916-G-T p.Thr374Lys missense ADH1C 7 83258 8.4076E-5 41629 0 0.00125
4-100257923-C-T p.Val372Ile missense ADH1C 3 83252 3.60352E-5 41626 0 8.25737E-6
4-100257923-C-A p.Val372Phe missense ADH1C 1 83252 1.20117E-5 41626 0 1.19397E-5
4-100257924-G-A p.Thr371Thr synonymous ADH1C 11 83256 1.32123E-4 41628 0 6.25E-4
4-100257925-G-A p.Thr371Ile missense ADH1C 2 83250 2.4024E-5 41625 0 1.19409E-5
4-100257929-G-C p.Arg370Gly missense ADH1C 1 83222 1.20161E-5 41611 0 8.25777E-6
4-100257936-G-A c.1104-3C>T splice_region ADH1C 1 83218 1.20166E-5 41609 0 NA
4-100257939-A-G c.1104-6T>C splice_region ADH1C 1 83198 1.20195E-5 41599 0 NA
4-100257940-T-C c.1104-7A>G splice_region ADH1C 8 83200 9.61538E-5 41600 0 NA
4-100260730-C-T c.1103+4G>A splice_region ADH1C 2 83008 2.40941E-5 41504 0 6.38774E-5
4-100260746-C-T p.Arg364His missense ADH1C 22 83184 2.64474E-4 41592 0 9.72021E-4
4-100260747-G-A p.Arg364Cys missense ADH1C 1 83206 1.20184E-5 41603 0 1.6965E-5
4-100260754-G-T p.Asp361Glu missense ADH1C 2 83270 2.40183E-5 41635 0 NA
4-100260756-C-T p.Asp361Asn missense ADH1C 4 83270 4.80365E-5 41635 0 4.07428E-6
4-100260762-C-T p.Gly359Arg missense ADH1C 1 83276 1.20083E-5 41638 0 NA
4-100260766-A-G p.Asn357Asn synonymous ADH1C 1 83274 1.20085E-5 41637 0 3.18593E-5
4-100260783-G-T p.Pro352Thr missense ADH1C 467 83290 0.00560692 41645 7 0.00959496
4-100260789-T-C p.Ile350Val missense ADH1C 26615 82886 0.321104 41443 4728 0.345769
4-100260803-G-A p.Ala345Val missense ADH1C 1 83284 1.20071E-5 41642 0 NA
4-100260829-A-G p.Phe336Phe synonymous ADH1C 2 83230 2.40298E-5 41615 0 3.1835E-5
4-100260840-CA-C p.Val333fs frameshift ADH1C 1 83206 1.20184E-5 41603 0 4.03076E-6
4-100260845-T-C p.Lys331Arg missense ADH1C 2 83186 2.40425E-5 41593 0 9.55536E-5
4-100260852-C-T p.Val329Ile missense ADH1C 1 83188 1.2021E-5 41594 0 8.27705E-6
4-100260871-G-A p.Gly322Gly splice_region+synonymous ADH1C 1 83160 1.2025E-5 41580 0 5.03525E-4
4-100261737-A-G p.Phe320Ser missense ADH1C 1 83334 1.19999E-5 41667 0 8.23859E-6
4-100261742-AGC-A p.Ala318fs frameshift ADH1C 2 83340 2.39981E-5 41670 0 NA
4-100261743-G-T p.Ala318Asp missense ADH1C 2 83338 2.39987E-5 41669 0 NA
4-100261743-G-A p.Ala318Val missense ADH1C 1 83338 1.19993E-5 41669 0 NA
4-100261752-C-G p.Trp315Ser missense ADH1C 4 83352 4.79893E-5 41676 1 NA
4-100261755-G-A p.Thr314Met missense ADH1C 2 83348 2.39958E-5 41674 0 1.64737E-5
4-100261768-G-A p.Leu310Leu synonymous ADH1C 84 83354 0.00100775 41677 0 0.0025164
4-100261777-T-C p.Met307Val missense ADH1C 2 83362 2.39917E-5 41681 0 3.1814E-5
4-100261792-G-C p.Leu302Val missense ADH1C 2 83344 2.39969E-5 41672 0 NA
4-100261798-G-A p.Gln300* stop_gained ADH1C 1 83346 1.19982E-5 41673 0 NA
4-100261803-T-G p.Asp298Ala missense ADH1C 1 83336 1.19996E-5 41668 0 2.78363E-5
4-100261810-G-T p.Pro296Thr missense ADH1C 1 83296 1.20054E-5 41648 0 NA
4-100261822-T-A p.Ile292Phe missense ADH1C 18 83166 2.16435E-4 41583 0 6.25782E-4
4-100261825-C-T p.Val291Ile missense ADH1C 1 83124 1.20302E-5 41562 0 NA
4-100261830-G-C p.Thr289Arg missense ADH1C 2 83056 2.40801E-5 41528 0 3.18492E-5
4-100261857-A-C p.Leu280Arg missense ADH1C 1 82764 1.20825E-5 41382 0 7.95931E-6
4-100263945-A-T c.828+7T>A splice_region ADH1C 132 82250 0.00160486 41125 0 0.00276947
4-100263946-T-A c.828+6A>T splice_region ADH1C 89 82268 0.00108183 41134 0 0.00226071
4-100263965-C-T p.Arg272Gln missense ADH1C 24997 80610 0.310098 40305 4080 0.34456
4-100263970-G-A p.Ile270Ile synonymous ADH1C 1 82420 1.2133E-5 41210 0 NA
4-100263975-C-T p.Val269Ile missense ADH1C 1 82420 1.2133E-5 41210 0 1.64753E-5
4-100263979-A-T p.Phe267Leu missense ADH1C 2 82402 2.42713E-5 41201 0 0.00108225
4-100263995-C-G p.Gly262Ala missense ADH1C 2 82346 2.42878E-5 41173 0 NA
4-100263997-T-C p.Gly261Gly synonymous ADH1C 6 82346 7.28633E-5 41173 0 7.16429E-5
4-100263998-C-G p.Gly261Ala missense ADH1C 1 82332 1.21459E-5 41166 0 NA
4-100264002-C-T p.Asp260Asn missense ADH1C 2 82346 2.42878E-5 41173 0 1.95034E-4
4-100264027-A-G p.Ile251Ile synonymous ADH1C 1 82292 1.21518E-5 41146 0 6.37227E-5
4-100264038-T-G p.Lys248Gln missense ADH1C 1 82358 1.21421E-5 41179 0 NA
4-100264051-G-T p.Asn243Lys missense ADH1C 4 82452 4.85131E-5 41226 0 1.59429E-4
4-100264056-T-C p.Ile242Val missense ADH1C 5 82494 6.06105E-5 41247 0 8.23642E-6
4-100264060-T-C p.Glu240Glu synonymous ADH1C 1 82556 1.2113E-5 41278 0 NA
4-100264089-C-T p.Ala231Thr missense ADH1C 1 82830 1.20729E-5 41415 0 3.97649E-6
4-100264089-C-A p.Ala231Ser missense ADH1C 1 82830 1.20729E-5 41415 0 NA
4-100264091-A-T p.Phe230Tyr missense ADH1C 1 82878 1.20659E-5 41439 0 8.23642E-6
4-100264092-A-G p.Phe230Leu missense ADH1C 3 82890 3.61925E-5 41445 0 NA
4-100264102-G-A p.Asn226Asn synonymous ADH1C 977 82892 0.0117864 41446 6 0.011811
4-100264108-G-A p.Asp224Asp synonymous ADH1C 1 83008 1.2047E-5 41504 0 NA
4-100264114-A-C p.Ala222Ala synonymous ADH1C 1 83102 1.20334E-5 41551 0 1.59205E-4
4-100264157-A-G p.Val208Ala missense ADH1C 1 83294 1.20057E-5 41647 0 3.97722E-5
4-100264158-C-T p.Val208Ile missense ADH1C 5 83298 6.00254E-5 41649 0 7.15911E-5
4-100264159-A-C p.Ser207Ser synonymous ADH1C 4 83298 4.80204E-5 41649 0 1.64756E-5
4-100264165-G-T p.Gly205Gly synonymous ADH1C 1 83298 1.20051E-5 41649 0 8.24022E-6
4-100264166-C-T p.Gly205Asp missense ADH1C 1 83290 1.20062E-5 41645 0 NA
4-100264167-C-T p.Gly205Ser missense ADH1C 1 83290 1.20062E-5 41645 0 3.18431E-5
4-100264168-G-A n.581C>T splice_region ADH1C 32 83284 3.84227E-4 41642 0 5.25068E-4
4-100264170-C-A p.Val204Phe missense ADH1C 1 83294 1.20057E-5 41647 0 NA
4-100264181-C-G p.Gly200Ala missense ADH1C 1 83274 1.20085E-5 41637 0 NA
4-100264184-A-G p.Phe199Ser missense ADH1C 1 83274 1.20085E-5 41637 0 NA
4-100264191-C-T p.Ala197Thr missense ADH1C 1 83262 1.20103E-5 41631 0 NA
4-100264201-C-G p.Gly193Gly synonymous ADH1C 1 83252 1.20117E-5 41626 0 8.26419E-6
4-100264208-G-T p.Thr191Asn missense ADH1C 1 83216 1.20169E-5 41608 0 5.03525E-4
4-100264209-T-A p.Thr191Ser missense ADH1C 24 83206 2.88441E-4 41603 0 0.0020141
4-100264213-C-T n.743-1G>A splice_acceptor ADH1C 2 83190 2.40414E-5 41595 0 3.18532E-5
4-100264215-A-G n.743-3T>C splice_region ADH1C 1 83178 1.20224E-5 41589 0 NA
4-100266011-AT-A n.742+7delA splice_region ADH1C 1 83176 1.20227E-5 41588 0 NA
4-100266012-T-C n.742+7A>G splice_region ADH1C 1 83178 1.20224E-5 41589 0 NA
4-100266015-C-T n.742+4G>A splice_region ADH1C 16 83192 1.92326E-4 41596 0 6.25E-4
4-100266016-T-TC n.742+2_742+3insG splice_donor ADH1C 1 83206 1.20184E-5 41603 0 NA
4-100266027-C-T p.Val187Ile missense ADH1C 1 83264 1.201E-5 41632 0 NA
4-100266052-C-T p.Ser178Ser synonymous ADH1C 6 83322 7.20098E-5 41661 0 8.23696E-6
4-100266052-C-A p.Ser178Ser synonymous ADH1C 1 83322 1.20016E-5 41661 0 1.64739E-5
4-100266053-G-A p.Ser178Leu missense ADH1C 2 83326 2.40021E-5 41663 0 5.76578E-5
4-100266055-A-G p.Phe177Phe synonymous ADH1C 6 83332 7.20012E-5 41666 0 3.29473E-5
4-100266064-G-A p.Gly174Gly synonymous ADH1C 355 83324 0.00426048 41662 5 0.0060423
4-100266069-T-C p.Ile173Val missense ADH1C 4 83328 4.80031E-5 41664 0 NA
4-100266080-T-G p.Lys169Thr missense ADH1C 1 83332 1.20002E-5 41666 0 NA
4-100266090-G-T p.Pro166Thr missense ADH1C 1 83330 1.20005E-5 41665 0 3.97687E-6
4-100266091-C-T p.Ser165Ser synonymous ADH1C 3 83324 3.6004E-5 41662 0 NA
4-100266093-A-G p.Ser165Pro missense ADH1C 1 83328 1.20008E-5 41664 0 3.97684E-6
4-100266099-C-T p.Ala163Thr missense ADH1C 3 83318 3.60066E-5 41659 0 NA
4-100266111-C-T p.Ala159Thr missense ADH1C 1 83296 1.20054E-5 41648 0 8.23655E-6
4-100266112-C-T p.Val158Val synonymous ADH1C 26577 82738 0.321219 41369 4768 0.345293
4-100266114-C-G p.Val158Leu missense ADH1C 1 83300 1.20048E-5 41650 0 NA
4-100266133-T-C p.Thr151Thr synonymous ADH1C 22225 82992 0.267797 41496 3426 0.324375
4-100266155-ACGC-A p.Gly143del disruptive_inframe_deletion ADH1C 1 83220 1.20163E-5 41610 0 1.64742E-5
4-100266157-G-A p.Gly143Gly synonymous ADH1C 113 83206 0.00135808 41603 0 0.0022293
4-100266157-GCC-ACT p.Gly143Ser missense ADH1C 1 83208 1.20181E-5 41604 0 NA
4-100266159-C-T p.Gly143Ser missense ADH1C 1 83214 1.20172E-5 41607 0 1.03432E-4
4-100266160-G-A p.Val142Val synonymous ADH1C 3 83216 3.60508E-5 41608 0 3.18451E-5
4-100266162-C-T p.Val142Ile missense ADH1C 44 83216 5.28744E-4 41608 0 7.00592E-4
4-100266163-G-A p.Phe141Phe synonymous ADH1C 167 83216 0.00200683 41608 0 0.0014168
4-100266171-G-A p.His139Tyr missense ADH1C 17 83232 2.04248E-4 41616 0 5.09424E-4
4-100266174-T-C p.Ile138Val missense ADH1C 1 83236 1.2014E-5 41618 0 1.1934E-5
4-100266175-G-A p.Pro137Pro synonymous ADH1C 1 83236 1.2014E-5 41618 0 3.97829E-6
4-100266183-C-T p.Gly135Arg missense ADH1C 1 83226 1.20155E-5 41613 0 6.36821E-5
4-100266184-G-C p.Ser134Arg missense ADH1C 1 83208 1.20181E-5 41604 0 1.98956E-5
4-100266184-G-A p.Ser134Ser synonymous ADH1C 2 83208 2.40361E-5 41604 0 1.19374E-5
4-100266201-T-C p.Arg129Gly missense ADH1C 1 83222 1.20161E-5 41611 0 NA
4-100266221-C-A p.Gly122Val missense ADH1C 2 83196 2.40396E-5 41598 0 0.00100705
4-100266224-C-T p.Arg121Gln missense ADH1C 2 83194 2.40402E-5 41597 0 NA
4-100266225-G-A p.Arg121Trp missense ADH1C 3 83204 3.6056E-5 41602 0 3.18451E-5
4-100266226-A-G p.Pro120Pro synonymous ADH1C 1 83216 1.20169E-5 41608 0 NA
4-100266227-G-C p.Pro120Arg missense ADH1C 2 83222 2.40321E-5 41611 0 1.19424E-5
4-100266242-G-A n.371-4C>T splice_region ADH1C 2 83242 2.40263E-5 41621 0 3.98121E-6
4-100266243-G-A n.371-5C>T splice_region ADH1C 2 83242 2.40263E-5 41621 0 NA
4-100266330-A-G n.370+6T>C splice_region ADH1C 26567 82878 0.320556 41439 4700 0.343177
4-100266332-T-C n.370+4A>G splice_region ADH1C 2 83348 2.39958E-5 41674 0 3.99517E-6
4-100266345-AAGC-A p.Cys112del disruptive_inframe_deletion ADH1C 1 83352 1.19973E-5 41676 0 NA
4-100266371-A-G p.Cys104Cys synonymous ADH1C 20043 82886 0.241814 41443 2655 0.251115
4-100266376-T-C p.Ile103Val missense ADH1C 20 83290 2.40125E-4 41645 0 0.00107775
4-100266398-A-C p.Thr95Thr synonymous ADH1C 1 83230 1.20149E-5 41615 0 NA
4-100266399-G-A p.Thr95Ile missense ADH1C 24 83232 2.88351E-4 41616 0 1.27356E-4
4-100266407-C-T p.Pro92Pro synonymous ADH1C 4 83224 4.80631E-5 41612 0 3.99978E-5
4-100266410-G-A p.Ile91Ile synonymous ADH1C 2 83216 2.40338E-5 41608 0 1.81222E-5
4-100266415-CTT-C p.Lys89fs frameshift ADH1C 4 83202 4.80758E-5 41601 0 6.36821E-5
4-100266423-C-T p.Gly87Asp missense+splice_region ADH1C 1 83182 1.20218E-5 41591 0 NA
4-100266428-A-C n.435-5T>G splice_region ADH1C 1 83152 1.20262E-5 41576 0 4.05344E-6
4-100266428-A-G n.435-5T>C splice_region ADH1C 2 83152 2.40523E-5 41576 0 NA
4-100268155-T-C n.328+8A>G splice_region ADH1C 4 83310 4.80134E-5 41655 0 9.55901E-5
4-100268164-T-A p.Pro86Pro splice_region+synonymous ADH1C 3 83322 3.60049E-5 41661 0 NA
4-100268170-G-A p.Val84Val synonymous ADH1C 1 83346 1.19982E-5 41673 0 3.18593E-5
4-100268185-T-C p.Glu79Glu synonymous ADH1C 1 83368 1.1995E-5 41684 0 NA
4-100268190-A-C p.Ter78Glyext*? stop_lost ADH1C 80302 82028 0.978958 41014 39344 0.993246
4-100268201-ACGATGCCGG-A p.Ala71_Ile73del disruptive_inframe_deletion ADH1C 1 83370 1.19947E-5 41685 0 3.97798E-6
4-100268208-C-T p.Gly72Ser missense ADH1C 1 83372 1.19944E-5 41686 0 8.23859E-6
4-100268214-C-T p.Ala70Thr missense ADH1C 1 83370 1.19947E-5 41685 0 NA
4-100268217-CAT-C p.His68fs frameshift ADH1C 2 83378 2.39871E-5 41689 0 NA
4-100268231-A-G p.Val64Ala missense ADH1C 2 83362 2.39917E-5 41681 0 1.31259E-4
4-100268233-AG-A p.Pro63fs frameshift ADH1C 2 83364 2.39912E-5 41682 0 NA
4-100268239-G-C p.Pro61Pro synonymous ADH1C 18 83364 2.15921E-4 41682 0 1.82971E-4
4-100268239-G-A p.Pro61Pro synonymous ADH1C 1 83364 1.19956E-5 41682 0 NA
4-100268256-C-T p.Gly56Ser missense ADH1C 1 83368 1.1995E-5 41684 0 NA
4-100268258-C-T p.Ser55Asn missense ADH1C 9 83370 1.07953E-4 41685 0 6.25E-4
4-100268265-C-T p.Val53Met missense ADH1C 5 83362 5.99794E-5 41681 0 8.24103E-6
4-100268275-T-C p.Ser49Ser synonymous ADH1C 1 83354 1.1997E-5 41677 0 NA
4-100268279-C-T p.Arg48His missense ADH1C 164 83346 0.0019677 41673 0 0.0033758
4-100268279-C-A p.Arg48Leu missense ADH1C 3 83348 3.59937E-5 41674 0 6.36943E-5
4-100268280-G-A p.Arg48Cys missense ADH1C 2 83350 2.39952E-5 41675 0 1.99622E-5
4-100268291-G-A p.Ala44Val missense ADH1C 2 83334 2.39998E-5 41667 0 3.18512E-5
4-100268300-A-G p.Met41Thr missense+splice_region ADH1C 2 83322 2.40033E-5 41661 0 NA
4-100268305-C-T n.190-4G>A splice_region ADH1C 12 83302 1.44054E-4 41651 0 8.44703E-5
4-100268899-C-T n.189+3G>A splice_region ADH1C 1 82778 1.20805E-5 41389 0 NA
4-100268902-C-A p.Lys40Asn missense+splice_region ADH1C 1 82910 1.20613E-5 41455 0 1.21225E-5
4-100268906-A-G p.Ile39Thr missense ADH1C 1 82924 1.20592E-5 41462 0 NA
4-100268910-G-A p.Arg38Cys missense ADH1C 2 82900 2.41255E-5 41450 0 3.18593E-5
4-100268937-C-A p.Val29Phe missense ADH1C 1 83254 1.20114E-5 41627 0 8.25205E-6
4-100268940-C-CT p.Glu28fs frameshift ADH1C 9 83248 1.08111E-4 41624 0 3.50185E-4
4-100268940-C-T p.Glu28Lys missense ADH1C 1 83248 1.20123E-5 41624 0 NA
4-100268941-T-A p.Val27Val synonymous ADH1C 1 83250 1.2012E-5 41625 0 NA
4-100268944-C-T p.Glu26Glu synonymous ADH1C 2 83258 2.40217E-5 41629 0 8.25396E-6
4-100268951-A-G p.Ile24Thr missense ADH1C 2 83270 2.40183E-5 41635 0 NA
4-100268959-G-A p.Pro21Pro synonymous ADH1C 1 83268 1.20094E-5 41634 0 NA
4-100268976-A-G p.Trp16Arg missense ADH1C 3 83266 3.60291E-5 41633 0 3.97829E-6
4-100268977-T-C p.Leu15Leu synonymous ADH1C 3 83262 3.60308E-5 41631 0 NA
4-100268999-A-G p.Ile8Thr missense ADH1C 1 83202 1.20189E-5 41601 0 NA
4-100269002-A-C p.Val7Gly missense+splice_region ADH1C 1 83214 1.20172E-5 41607 0 NA
4-100269006-A-G n.88-3T>C splice_region ADH1C 1 83214 1.20172E-5 41607 0 NA
4-100273809-G-C n.87+6C>G splice_region ADH1C 1 82966 1.20531E-5 41483 0 NA
4-100273819-C-T p.Gly5Glu missense ADH1C 1 83040 1.20424E-5 41520 0 NA
4-100273821-T-C p.Ala4Ala synonymous ADH1C 1 83028 1.20441E-5 41514 0 NA
4-100273828-C-T p.Ser2Asn missense ADH1C 1 83068 1.20383E-5 41534 0 3.18796E-5
4-100273836-G-C c.-4C>G 5_prime_UTR_premature_start_codon_gain ADH1C 1 83072 1.20378E-5 41536 0 NA
4-100273923-G-A c.-91C>T 5_prime_UTR_premature_start_codon_gain ADH1C 1 81638 1.22492E-5 40819 0 NA
4-100273951-C-T c.-119G>A 5_prime_UTR_premature_start_codon_gain ADH1C 1 77756 1.28607E-5 38878 0 NA
4-100273954-A-C c.-122T>G 5_prime_UTR_premature_start_codon_gain ADH1C 2 77040 2.59605E-5 38520 0 NA
4-100273996-G-A c.-164C>T 5_prime_UTR_premature_start_codon_gain ADH1C 1 68998 1.44932E-5 34499 0 NA
4-100274040-G-A c.-208C>T 5_prime_UTR_premature_start_codon_gain ADH1C 4 55970 7.14669E-5 27985 0 3.18451E-5
4-100274057-C-A c.-225G>T 5_prime_UTR_premature_start_codon_gain ADH1C 1 50596 1.97644E-5 25298 0 NA