Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-170982081-A-G p.Ter426Argext*? stop_lost AADAT 1 75812 1.31905E-5 37906 0 NA
4-170982109-T-C p.Val416Val synonymous AADAT 1 75570 1.32328E-5 37785 0 NA
4-170982112-C-T p.Gln415Gln synonymous AADAT 876 75452 0.01161 37726 13 0.0121951
4-170982125-A-G c.1237-5T>C splice_region AADAT 1 75382 1.32658E-5 37691 0 NA
4-170982127-CAG-AAA c.1237-9_1237-7delCTGinsTTT splice_region AADAT 1 75200 1.32979E-5 37600 0 NA
4-170983046-A-G p.Asp411Asp synonymous AADAT 4 82444 4.85178E-5 41222 0 2.19514E-4
4-170983054-G-C p.Gln409Glu missense AADAT 1 82530 1.21168E-5 41265 0 NA
4-170983064-A-T p.Ala405Ala synonymous AADAT 1 82582 1.21092E-5 41291 0 NA
4-170983067-T-C p.Ser404Ser synonymous AADAT 1 82608 1.21054E-5 41304 0 NA
4-170983076-G-A p.Ser401Ser synonymous AADAT 1 82660 1.20978E-5 41330 0 NA
4-170983088-G-A p.Tyr397Tyr synonymous AADAT 3 82696 3.62775E-5 41348 0 1.2738E-4
4-170983106-G-A p.Ser391Ser synonymous AADAT 1 82702 1.20916E-5 41351 0 NA
4-170983111-C-T p.Asp390Asn missense AADAT 2 82684 2.41885E-5 41342 0 8.27582E-6
4-170983112-G-A p.Val389Val synonymous AADAT 5 82640 6.05034E-5 41320 0 7.97213E-6
4-170983114-C-T p.Val389Ile missense AADAT 2 82612 2.42096E-5 41306 0 3.18471E-5
4-170983115-G-A p.Tyr388Tyr synonymous AADAT 6 82618 7.26234E-5 41309 0 1.65637E-5
4-170983131-G-A p.Pro383Leu missense AADAT 2 82496 2.42436E-5 41248 0 NA
4-170983138-T-A p.Met381Leu missense AADAT 1 82390 1.21374E-5 41195 0 5.19045E-5
4-170983142-T-C p.Val379Val splice_region+synonymous AADAT 1 82330 1.21462E-5 41165 0 NA
4-170983152-A-G c.1135-8T>C splice_region AADAT 1 82134 1.21752E-5 41067 0 3.1839E-5
4-170985878-T-C p.Lys376Glu missense AADAT 2 83146 2.40541E-5 41573 0 NA
4-170985881-C-A p.Val375Phe missense AADAT 1 83140 1.20279E-5 41570 0 8.25634E-6
4-170985882-G-A p.Ala374Ala synonymous AADAT 3 83144 3.6082E-5 41572 0 1.64842E-5
4-170985882-G-C p.Ala374Ala synonymous AADAT 1 83144 1.20273E-5 41572 0 8.24212E-6
4-170985959-C-T p.Val349Ile missense AADAT 1 83050 1.20409E-5 41525 0 NA
4-170985966-T-C p.Glu346Glu synonymous AADAT 1 83026 1.20444E-5 41513 0 NA
4-170987560-C-T c.1027+5G>A splice_region AADAT 1 82626 1.21027E-5 41313 0 NA
4-170987567-G-C p.Thr342Ser missense+splice_region AADAT 16 82622 1.93653E-4 41311 0 5.03525E-4
4-170987601-C-T p.Asp331Asn missense AADAT 1 82512 1.21194E-5 41256 0 3.98508E-6
4-170987613-T-C p.Ser327Gly missense AADAT 19 82456 2.30426E-4 41228 0 1.55459E-4
4-170987615-T-C p.Tyr326Cys missense AADAT 2 82432 2.42624E-5 41216 0 3.18431E-5
4-170987628-C-T p.Val322Ile missense+splice_region AADAT 1 82270 1.21551E-5 41135 0 6.25E-4
4-170987633-G-A c.963-4C>T splice_region AADAT 1 82176 1.2169E-5 41088 0 NA
4-170987636-A-G c.963-7T>C splice_region AADAT 44890 80470 0.557848 40235 13135 0.599247
4-170987636-A-T c.963-7T>A splice_region AADAT 78 82076 9.50339E-4 41038 0 0.00135318
4-170988470-T-G c.962+8A>C splice_region AADAT 230 82264 0.00279588 41132 2 0.00509522
4-170988474-A-G c.962+4T>C splice_region AADAT 1 82330 1.21462E-5 41165 0 3.98788E-6
4-170988482-C-T p.Asp320Asn missense AADAT 1 82404 1.21353E-5 41202 0 1.19563E-5
4-170988486-A-G p.His318His synonymous AADAT 1 82450 1.21286E-5 41225 0 NA
4-170988490-G-T p.Ala317Asp missense AADAT 2 82458 2.42548E-5 41229 0 NA
4-170988513-T-A p.Glu309Asp missense AADAT 1 82434 1.21309E-5 41217 0 NA
4-170988516-G-T p.His308Gln missense AADAT 1 82418 1.21333E-5 41209 0 NA
4-170988522-A-G p.Leu306Leu synonymous AADAT 1 82490 1.21227E-5 41245 0 NA
4-170988529-G-A p.Ser304Leu missense AADAT 3 82480 3.63725E-5 41240 0 3.18674E-5
4-170988544-A-G c.901-5T>C splice_region AADAT 1 82324 1.21471E-5 41162 0 6.37105E-5
4-170988546-G-A c.901-7C>T splice_region AADAT 6 82280 7.29217E-5 41140 0 1.20328E-5
4-170989741-CCT-ACC p.Gln300Arg splice_donor AADAT 1 82526 1.21174E-5 41263 0 NA
4-170989757-G-T p.Pro295Pro synonymous AADAT 6 82838 7.24305E-5 41419 0 6.24833E-5
4-170989778-T-C p.Ile288Met missense AADAT 2 82932 2.41161E-5 41466 0 1.64864E-5
4-170989791-ACTCT-A p.Arg283fs frameshift AADAT 1 82956 1.20546E-5 41478 0 3.18756E-5
4-170989792-C-G p.Val284Leu missense AADAT 1 82914 1.20607E-5 41457 0 NA
4-170989828-C-A p.Gly272* stop_gained AADAT 1 82824 1.20738E-5 41412 0 NA
4-170989842-C-T c.804-4G>A splice_region AADAT 7 82526 8.48218E-5 41263 0 4.96024E-5
4-170990341-C-A p.Arg254Leu missense AADAT 1 82586 1.21086E-5 41293 0 NA
4-170990375-C-T p.Val243Ile missense AADAT 423 82102 0.00515213 41051 2 0.00737684
4-170990380-A-C p.Phe241Cys missense+splice_region AADAT 1 82014 1.2193E-5 41007 0 NA
4-170990389-T-C c.721-8A>G splice_region AADAT 1 81714 1.22378E-5 40857 0 NA
4-170991628-T-C n.629A>G splice_region AADAT 1 73592 1.35884E-5 36796 0 NA
4-170991630-T-C n.627A>G splice_region AADAT 1 73930 1.35263E-5 36965 0 NA
4-170991738-C-T p.Lys240Lys splice_region+synonymous AADAT 2 82074 2.43683E-5 41037 0 NA
4-170991739-T-C p.Lys240Arg missense+splice_region AADAT 1 82088 1.2182E-5 41044 0 8.27938E-6
4-170991741-G-C p.Asn239Lys missense AADAT 16 82090 1.94908E-4 41045 0 1.24181E-5
4-170991751-A-T p.Leu236His missense AADAT 1 82160 1.21714E-5 41080 0 NA
4-170991761-A-T p.Tyr233Asn missense AADAT 1 82116 1.21779E-5 41058 0 3.18471E-5
4-170991789-A-G p.Tyr223Tyr synonymous AADAT 1 81934 1.22049E-5 40967 0 3.21647E-5
4-170991798-T-C p.Ala220Ala synonymous AADAT 21 81824 2.56648E-4 40912 0 3.38106E-5
4-170991803-G-A p.Leu219Phe missense+splice_region AADAT 1 81658 1.22462E-5 40829 0 NA
4-170994281-C-T c.654+6G>A splice_region AADAT 2 83102 2.40668E-5 41551 0 3.18552E-5
4-170994283-A-G c.654+4T>C splice_region AADAT 1 83114 1.20317E-5 41557 0 3.99342E-6
4-170994284-T-C c.654+3A>G splice_region AADAT 1 83116 1.20314E-5 41558 0 8.25832E-6
4-170994291-T-C p.Tyr217Cys missense AADAT 1 83126 1.20299E-5 41563 0 3.9887E-6
4-170994293-G-A p.Ile216Ile synonymous AADAT 7 83120 8.42156E-5 41560 0 1.91156E-4
4-170994308-T-C p.Glu211Glu synonymous AADAT 3 83110 3.60967E-5 41555 0 3.98327E-6
4-170994312-C-T p.Ser210Asn missense AADAT 1 83132 1.20291E-5 41566 0 NA
4-170994321-G-A p.Ser207Leu missense AADAT 1 83114 1.20317E-5 41557 0 NA
4-170994323-G-A p.Asn206Asn synonymous AADAT 1 83134 1.20288E-5 41567 0 8.23818E-6
4-170994349-G-C p.Pro198Ala missense AADAT 1 83186 1.20213E-5 41593 0 NA
4-170994350-A-G p.Val197Val synonymous AADAT 60 83180 7.21327E-4 41590 1 0.00251814
4-170994357-T-C p.Tyr195Cys missense AADAT 2 83198 2.4039E-5 41599 0 7.95539E-6
4-170994374-G-A p.Asn189Asn synonymous AADAT 1 83214 1.20172E-5 41607 0 1.59103E-5
4-170994376-T-C p.Asn189Asp missense AADAT 1 83218 1.20166E-5 41609 0 3.19061E-5
4-170994401-T-C p.Pro180Pro splice_region+synonymous AADAT 1 83210 1.20178E-5 41605 0 NA
4-170994435-T-G p.Asp169Ala missense AADAT 1 83132 1.20291E-5 41566 0 3.98029E-6
4-170994439-G-T p.Pro168Thr missense AADAT 1 83118 1.20311E-5 41559 0 NA
4-170994466-CATT-C p.Asn158del conservative_inframe_deletion AADAT 2 82944 2.41127E-5 41472 0 NA
4-170994482-G-A p.Gly153Gly synonymous AADAT 2 82758 2.41668E-5 41379 0 7.97194E-6
4-170994484-C-T p.Gly153Ser missense AADAT 2 82722 2.41774E-5 41361 0 NA
4-170994485-C-T p.Leu152Leu synonymous AADAT 1 82710 1.20904E-5 41355 0 NA
4-170994494-C-G p.Leu149Leu splice_region+synonymous AADAT 1 82518 1.21186E-5 41259 0 8.43014E-5
4-170999652-A-G c.444+8T>C splice_region AADAT 1 80894 1.23619E-5 40447 0 NA
4-170999664-T-C p.Gln147Arg missense AADAT 1 81276 1.23038E-5 40638 0 NA
4-170999666-A-T p.Leu146Leu synonymous AADAT 1 81282 1.23028E-5 40641 0 NA
4-170999696-G-C p.Leu136Leu synonymous AADAT 1 81738 1.22342E-5 40869 0 0.00125
4-170999723-C-A p.Met127Ile missense AADAT 1 81606 1.2254E-5 40803 0 8.25369E-6
4-171008278-C-A p.Gly120Cys missense AADAT 1 83344 1.19985E-5 41672 0 NA
4-171008282-T-C p.Gln118Gln synonymous AADAT 2 83356 2.39935E-5 41678 0 3.18451E-5
4-171008285-G-A p.Ser117Ser synonymous AADAT 1 83342 1.19988E-5 41671 0 8.23655E-6
4-171008303-T-C p.Leu111Leu synonymous AADAT 2 83346 2.39964E-5 41673 0 6.25E-4
4-171008303-T-A p.Leu111Leu synonymous AADAT 1 83346 1.19982E-5 41673 0 8.23655E-6
4-171008306-A-G p.Asp110Asp synonymous AADAT 1 83356 1.19967E-5 41678 0 NA
4-171008311-T-A p.Met109Leu missense AADAT 3 83360 3.59885E-5 41680 0 2.78396E-5
4-171008339-G-A p.Thr99Thr synonymous AADAT 1 83342 1.19988E-5 41671 0 NA
4-171008354-C-T p.Leu94Leu synonymous AADAT 23 83318 2.76051E-4 41659 0 9.55657E-4
4-171008405-G-A c.237-6C>T splice_region AADAT 1 83056 1.20401E-5 41528 0 1.67193E-5
4-171009544-T-C c.236+3A>G splice_region AADAT 1 82492 1.21224E-5 41246 0 NA
4-171009546-CCCAGCACTCGGAGAAT-C p.Tyr74fs frameshift AADAT 1 82456 1.21277E-5 41228 0 3.99418E-6
4-171009549-A-G p.Ala78Ala splice_region+synonymous AADAT 1 82542 1.2115E-5 41271 0 NA
4-171009555-C-T p.Pro76Pro synonymous AADAT 1 82676 1.20954E-5 41338 0 9.55718E-5
4-171009555-C-G p.Pro76Pro synonymous AADAT 1 82676 1.20954E-5 41338 0 NA
4-171009559-G-T p.Ser75Tyr missense AADAT 1 82758 1.20834E-5 41379 0 NA
4-171009570-T-C p.Ala71Ala synonymous AADAT 1 82988 1.20499E-5 41494 0 8.24076E-6
4-171009580-A-G p.Met68Thr missense AADAT 1 83070 1.2038E-5 41535 0 NA
4-171009629-C-T p.Val52Ile missense AADAT 4 83166 4.80966E-5 41583 0 3.18451E-5
4-171009640-A-G p.Phe48Ser missense AADAT 1 83148 1.20267E-5 41574 0 NA
4-171009674-C-A p.Ala37Ser missense AADAT 1 83008 1.2047E-5 41504 0 NA
4-171009678-G-A p.Ser35Ser synonymous AADAT 1 82980 1.20511E-5 41490 0 NA
4-171009681-G-A p.Ile34Ile synonymous AADAT 4 82948 4.8223E-5 41474 0 6.3678E-5
4-171009687-C-T p.Ser32Ser synonymous AADAT 14 82904 1.6887E-4 41452 0 1.91046E-4
4-171009690-T-C p.Lys31Lys synonymous AADAT 3 82932 3.61742E-5 41466 0 1.64872E-5
4-171009703-C-G p.Ser27Thr missense AADAT 1 82792 1.20785E-5 41396 0 NA
4-171009708-T-C p.Ile25Met missense AADAT 1 82736 1.20866E-5 41368 0 NA
4-171009711-G-A p.Asp24Asp synonymous AADAT 1 82704 1.20913E-5 41352 0 3.1841E-5
4-171010420-C-G p.Arg11Thr missense AADAT 1 10874 9.19625E-5 5437 0 NA
4-171010424-A-C p.Trp10Gly missense AADAT 4 10946 3.6543E-4 5473 0 5.74529E-4
4-171010443-G-A p.Ser3Ser synonymous AADAT 1 11574 8.64006E-5 5787 0 2.23172E-4
4-171010756-T-C c.79+7A>G splice_region AADAT 1 83086 1.20357E-5 41543 0 3.98708E-6
4-171010810-C-T p.Ser11Asn missense AADAT 1 83168 1.20239E-5 41584 0 3.97722E-6
4-171010838-T-C p.Asn2Asp missense AADAT 1 83250 1.2012E-5 41625 0 NA
4-171010886-G-A c.-45C>T splice_region AADAT 1 82882 1.20653E-5 41441 0 NA
4-171010889-T-C c.-46-2A>G splice_acceptor AADAT 1 82770 1.20817E-5 41385 0 3.18857E-5
4-171010892-A-G c.-46-5T>C splice_region AADAT 2 82662 2.41949E-5 41331 0 8.27732E-6
4-171010894-AAACC-A c.-46-11_-46-8delGGTT splice_region AADAT 1 82604 1.2106E-5 41302 0 NA
4-171010935-C-T c.-94G>A 5_prime_UTR_premature_start_codon_gain AADAT 1 78816 1.26878E-5 39408 0 3.18918E-5
4-171010943-A-T c.-102T>A 5_prime_UTR_premature_start_codon_gain AADAT 2 77436 2.58278E-5 38718 0 3.19428E-5
4-171010998-G-A c.-157C>T 5_prime_UTR_premature_start_codon_gain AADAT 1 67324 1.48535E-5 33662 0 NA
4-171011011-G-A c.-170C>T 5_prime_UTR_premature_start_codon_gain AADAT 35 63950 5.47303E-4 31975 0 6.08234E-4
4-171011081-G-A c.-240C>T 5_prime_UTR_premature_start_codon_gain AADAT 1 26518 3.77102E-5 13259 0 NA
4-171011356-AGGCTAGCCCAGG-A c.-47+8_-47+19delCCTGGGCTAGCC splice_region AADAT 1 1956 5.11247E-4 978 0 NA
4-171011568-C-A c.-47+1G>T splice_donor AADAT 1 1758 5.68828E-4 879 0 5.73358E-4
4-171012741-T-C c.-161+4A>G splice_region AADAT 5 36 0.138889 18 1 0.106766