Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
19-6372458-G-T c.-374G>T 5_prime_UTR_premature_start_codon_gain ALKBH7 21 7080 0.0029661 3540 0 0.00528932
19-6372558-C-G c.-274C>G 5_prime_UTR_premature_start_codon_gain ALKBH7 2 15094 1.32503E-4 7547 0 NA
19-6372631-G-A c.-201G>A 5_prime_UTR_premature_start_codon_gain ALKBH7 1 22966 4.35426E-5 11483 0 NA
19-6372820-C-T c.-12C>T 5_prime_UTR_premature_start_codon_gain ALKBH7 3 56482 5.31143E-5 28241 0 0.00152207
19-6372825-C-T c.-7C>T 5_prime_UTR_premature_start_codon_gain ALKBH7 16 56900 2.81195E-4 28450 0 8.30703E-5
19-6372833-T-C p.Met1? start_lost ALKBH7 1 57476 1.73986E-5 28738 0 2.14964E-5
19-6372837-C-T p.Ala2Ala synonymous ALKBH7 3 57562 5.21177E-5 28781 0 1.42584E-5
19-6372842-C-T p.Thr4Ile missense ALKBH7 1 57550 1.73762E-5 28775 0 2.12675E-5
19-6372843-T-G p.Thr4Thr synonymous ALKBH7 1 57676 1.73382E-5 28838 0 3.99744E-4
19-6372856-C-T p.Leu9Leu synonymous ALKBH7 1 57408 1.74192E-5 28704 0 NA
19-6372868-C-T p.Pro13Ser missense ALKBH7 1 57218 1.7477E-5 28609 0 NA
19-6372882-G-A p.Trp17* stop_gained ALKBH7 3 57682 5.20093E-5 28841 0 2.54858E-4
19-6372887-G-A p.Arg19Gln missense ALKBH7 1 57482 1.73968E-5 28741 0 NA
19-6372897-C-A p.Gly22Gly synonymous ALKBH7 2 57802 3.46009E-5 28901 0 5.51488E-5
19-6372926-C-T p.Ala32Val missense ALKBH7 2 59856 3.34135E-5 29928 0 NA
19-6372936-GCGGCCTGGCTTCCTGAGCA-G p.Pro37fs frameshift ALKBH7 1 60954 1.64058E-5 30477 0 6.1631E-6
19-6372937-C-A p.Arg36Arg synonymous ALKBH7 1 60948 1.64074E-5 30474 0 NA
19-6372943-G-A p.Gly38Ser missense ALKBH7 3 61686 4.86334E-5 30843 0 2.33891E-4
19-6372950-TGAGCACGGCAGAGGAG-T p.Ser41fs frameshift ALKBH7 2 62076 3.22186E-5 31038 0 NA
19-6372955-A-T p.Thr42Ser missense ALKBH7 1 62140 1.60927E-5 31070 0 5.40716E-5
19-6372959-C-A p.Ala43Glu missense ALKBH7 1 62272 1.60586E-5 31136 0 NA
19-6372960-AGAG-A p.Glu46del conservative_inframe_deletion ALKBH7 3 62364 4.81047E-5 31182 0 NA
19-6372964-G-A p.Glu45Lys missense ALKBH7 1 62574 1.59811E-5 31287 0 NA
19-6372966-G-A p.Glu45Glu synonymous ALKBH7 1 62600 1.59744E-5 31300 0 5.60412E-6
19-6372967-G-T p.Glu46* stop_gained ALKBH7 1 62618 1.59698E-5 31309 0 NA
19-6372967-G-A p.Glu46Lys missense ALKBH7 1 62618 1.59698E-5 31309 0 NA
19-6372980-G-A p.Arg50Gln missense ALKBH7 3 62230 4.82083E-5 31115 0 3.18715E-5
19-6372999-GCGC-G p.Arg60del conservative_inframe_deletion ALKBH7 5 60646 8.24457E-5 30323 0 6.3743E-5
19-6373009-C-T p.Arg60Cys missense ALKBH7 31 60244 5.14574E-4 30122 0 0.00320856
19-6373010-G-A p.Arg60His missense ALKBH7 1 60070 1.66472E-5 30035 0 6.37471E-5
19-6373018-T-C p.Tyr63His missense ALKBH7 1 59208 1.68896E-5 29604 0 NA
19-6373038-G-A c.204+3G>A splice_region ALKBH7 3 55342 5.42084E-5 27671 0 2.34797E-4
19-6373039-A-G c.204+4A>G splice_region ALKBH7 2 54882 3.64418E-5 27441 0 9.56145E-5
19-6373041-A-AC c.204+6_204+7insC splice_region ALKBH7 10 54230 1.844E-4 27115 0 1.43746E-4
19-6373503-G-A c.-288G>A 5_prime_UTR_premature_start_codon_gain ALKBH7 10 21868 4.57289E-4 10934 0 9.63267E-5
19-6373541-G-C c.-250G>C 5_prime_UTR_premature_start_codon_gain ALKBH7 87 24202 0.00359474 12101 0 0.00755336
19-6373554-T-C c.-237T>C 5_prime_UTR_premature_start_codon_gain ALKBH7 1 24624 4.06108E-5 12312 0 NA
19-6373571-C-A c.-223+3C>A splice_region ALKBH7 1 24876 4.01994E-5 12438 0 NA
19-6373749-G-A p.Gly7Glu missense+splice_region ALKBH7 1435 25788 0.055646 12894 35 0.176471
19-6373751-G-A c.21+1G>A splice_donor ALKBH7 2 25884 7.72678E-5 12942 0 NA
19-6374222-C-A p.His71Gln missense ALKBH7 1 80816 1.23738E-5 40408 0 3.18898E-5
19-6374225-C-T p.Gly72Gly synonymous ALKBH7 1 80918 1.23582E-5 40459 0 NA
19-6374226-T-G p.Phe73Val missense ALKBH7 2 80950 2.47066E-5 40475 0 1.22114E-5
19-6374229-C-A p.Arg74Arg synonymous ALKBH7 204 80986 0.00251895 40493 1 0.00519804
19-6374236-C-G p.Thr76Arg missense ALKBH7 3 81404 3.68532E-5 40702 1 NA
19-6374238-G-A p.Glu77Lys missense ALKBH7 1 81482 1.22726E-5 40741 0 3.18756E-5
19-6374238-G-C p.Glu77Gln missense ALKBH7 1 81482 1.22726E-5 40741 0 4.06497E-6
19-6374242-A-C p.Lys78Thr missense ALKBH7 2 81570 2.45188E-5 40785 0 3.1904E-5
19-6374243-G-A p.Lys78Lys synonymous ALKBH7 1 81538 1.22642E-5 40769 0 NA
19-6374245-C-A p.Ser79* stop_gained ALKBH7 2 81558 2.45224E-5 40779 0 2.03231E-5
19-6374248-G-T p.Arg80Leu missense ALKBH7 9 81612 1.10278E-4 40806 0 8.53461E-6
19-6374248-G-A p.Arg80His missense ALKBH7 4 81612 4.90124E-5 40806 0 1.1095E-4
19-6374265-C-T p.Arg86Trp missense ALKBH7 4 82078 4.87341E-5 41039 0 6.37755E-5
19-6374267-G-A p.Arg86Arg synonymous ALKBH7 2 82090 2.43635E-5 41045 0 1.59469E-4
19-6374269-C-T p.Ala87Val missense ALKBH7 1 82150 1.21729E-5 41075 0 4.04197E-6
19-6374274-C-G p.Leu89Val missense ALKBH7 8 82326 9.71746E-5 41163 0 1.41287E-4
19-6374280-C-T p.Arg91Cys missense ALKBH7 1 82348 1.21436E-5 41174 0 7.67355E-5
19-6374282-C-A p.Arg91Arg synonymous ALKBH7 7 82398 8.49535E-5 41199 0 2.21514E-4
19-6374290-C-T p.Ala94Val missense ALKBH7 3 82470 3.63769E-5 41235 0 0.00100705
19-6374293-C-T p.Ala95Val missense ALKBH7 1 82456 1.21277E-5 41228 0 6.25E-4
19-6374294-C-T c.-142C>T 5_prime_UTR_premature_start_codon_gain ALKBH7 5 82504 6.06031E-5 41252 0 6.37592E-5
19-6374306-C-T c.-130C>T 5_prime_UTR_premature_start_codon_gain ALKBH7 7 82610 8.47355E-5 41305 0 4.44441E-5
19-6374307-G-C p.Gly100Arg missense ALKBH7 1 82564 1.21118E-5 41282 0 NA
19-6374316-C-G p.Leu103Val missense ALKBH7 1 82708 1.20907E-5 41354 0 NA
19-6374320-TCTC-T p.Ser106del conservative_inframe_deletion ALKBH7 2 82738 2.41727E-5 41369 0 NA
19-6374326-C-G p.Ser106Cys missense ALKBH7 3 82768 3.62459E-5 41384 0 1.20822E-5
19-6374328-G-A p.Val107Met missense ALKBH7 1 82766 1.20823E-5 41383 0 NA
19-6374329-T-A p.Val107Glu missense ALKBH7 1 82788 1.2079E-5 41394 0 9.56328E-5
19-6374330-G-A p.Val107Val synonymous ALKBH7 2 82780 2.41604E-5 41390 0 1.20858E-5
19-6374353-G-A p.Arg115His missense ALKBH7 11 82876 1.32728E-4 41438 0 6.25E-4
19-6374354-C-T p.Arg115Arg synonymous ALKBH7 1 82870 1.20671E-5 41435 0 8.09697E-6
19-6374367-C-T p.Pro120Ser missense ALKBH7 1 82966 1.20531E-5 41483 0 NA
19-6374380-G-A p.Ser124Asn missense ALKBH7 1 82998 1.20485E-5 41499 0 6.25E-4
19-6374385-AAGGTGGGCAGAGGACGGTGCCTTGGCACTCCCAGCCAGGGGGTAGGCAGGCCCGGTTAGATCCTGACCCATCCCCACGCCTCTTTTGC-A p.Lys126fs frameshift ALKBH7 11 83006 1.32521E-4 41503 3 NA
19-6374393-C-T c.378+6C>T splice_region ALKBH7 1 82962 1.20537E-5 41481 0 8.13842E-6
19-6374473-C-T c.379-3C>T splice_region ALKBH7 6 83046 7.22491E-5 41523 0 NA
19-6374475-G-T c.379-1G>T splice_acceptor ALKBH7 17 83066 2.04657E-4 41533 0 4.78778E-5
19-6374482-G-A p.Gly129Arg missense ALKBH7 2 83060 2.4079E-5 41530 0 3.98705E-6
19-6374491-A-G p.Ile132Val missense ALKBH7 15 83088 1.80531E-4 41544 1 3.82751E-4
19-6374495-C-G p.Ala133Gly missense ALKBH7 2 83068 2.40767E-5 41534 0 NA
19-6374496-C-T c.-28C>T 5_prime_UTR_premature_start_codon_gain ALKBH7 621 83064 0.00747616 41532 16 0.0174448
19-6374504-C-T p.Ser136Phe missense ALKBH7 2 83102 2.40668E-5 41551 0 NA
19-6374513-C-T p.Ser139Phe missense ALKBH7 1 83116 1.20314E-5 41558 0 NA
19-6374520-C-A p.Ser141Arg missense ALKBH7 5 83112 6.01598E-5 41556 0 NA
19-6374520-C-T p.Ser141Ser synonymous ALKBH7 1 83112 1.2032E-5 41556 0 8.24565E-6
19-6374521-G-T p.Val142Phe missense ALKBH7 8 83106 9.62626E-5 41553 0 5.77196E-5
19-6374528-G-A p.Arg144Gln missense ALKBH7 1 83096 1.20343E-5 41548 0 8.24742E-6
19-6374531-TGGTGCACACCCA-T p.Val146_Gln149del disruptive_inframe_deletion ALKBH7 4 83086 4.81429E-5 41543 0 3.29891E-5
19-6374532-G-T p.Leu145Leu synonymous ALKBH7 1 83076 1.20372E-5 41538 0 NA
19-6374538-C-T p.His147His synonymous ALKBH7 1 83040 1.20424E-5 41520 0 8.24974E-6
19-6374543-AGGAGCCGGGGGAGTGGCTGGAACTCTTGCT-A p.Glu153_Gly162del disruptive_inframe_deletion ALKBH7 1 83020 1.20453E-5 41510 0 NA
19-6374546-A-C p.Glu150Ala missense ALKBH7 1 83042 1.20421E-5 41521 0 3.98184E-6
19-6374549-C-CG p.Glu153fs frameshift ALKBH7 1 83040 1.20424E-5 41520 0 6.37836E-5
19-6374550-G-A p.Pro151Pro synonymous ALKBH7 2 83046 2.4083E-5 41523 0 3.18898E-5
19-6374554-G-A p.Glu153Lys missense ALKBH7 38 83050 4.57556E-4 41525 1 0.001562
19-6374572-C-A p.Leu159Met missense ALKBH7 1 82916 1.20604E-5 41458 0 3.30246E-5
19-6374579-C-T p.Pro161Leu missense ALKBH7 1 82882 1.20653E-5 41441 0 1.99122E-5
19-6374579-C-G p.Pro161Arg missense ALKBH7 1 82882 1.20653E-5 41441 0 NA
19-6374581-G-C p.Gly162Arg missense ALKBH7 2 82872 2.41336E-5 41436 0 8.25314E-6
19-6374589-C-T p.Leu164Leu synonymous ALKBH7 2 82852 2.41394E-5 41426 0 NA
19-6374593-A-T p.Ile166Phe missense ALKBH7 1 82830 1.20729E-5 41415 0 6.38855E-5
19-6374599-A-C p.Arg168Arg splice_region+synonymous ALKBH7 1 82748 1.20849E-5 41374 0 1.99079E-5
19-6374603-A-G c.503+3A>G splice_region ALKBH7 3 82632 3.63055E-5 41316 0 NA
19-6374605-C-T c.503+5C>T splice_region ALKBH7 2 82642 2.42008E-5 41321 0 3.982E-5
19-6374830-C-G p.Ala171Gly missense ALKBH7 1 83230 1.20149E-5 41615 0 1.35674E-4
19-6374833-G-C p.Arg172Pro missense ALKBH7 3 83232 3.60438E-5 41616 0 NA
19-6374835-T-C p.Tyr173His missense ALKBH7 2 83234 2.40286E-5 41617 0 NA
19-6374837-T-C p.Tyr173Tyr synonymous ALKBH7 180 83232 0.00216263 41616 1 0.00455501
19-6374840-C-T p.Asp174Asp synonymous ALKBH7 1 83232 1.20146E-5 41616 0 1.19512E-5
19-6374843-C-T p.Phe175Phe synonymous ALKBH7 1 83248 1.20123E-5 41624 0 3.31279E-5
19-6374867-A-G p.Glu183Glu synonymous ALKBH7 1 83232 1.20146E-5 41616 0 1.65207E-5
19-6374869-A-C p.Glu184Ala missense ALKBH7 1 83230 1.20149E-5 41615 0 3.30349E-5
19-6374872-CCTT-C p.Phe187del disruptive_inframe_deletion ALKBH7 3 83220 3.6049E-5 41610 0 5.03525E-4
19-6374872-C-A p.Ser185Tyr missense ALKBH7 1 83220 1.20163E-5 41610 0 NA
19-6374886-C-T p.Arg190Cys missense ALKBH7 1 83176 1.20227E-5 41588 0 1.6536E-5
19-6374887-G-GC p.Arg191fs frameshift ALKBH7 1 83166 1.20241E-5 41583 0 NA
19-6374890-G-A p.Arg191Gln missense ALKBH7 5132 83104 0.0617539 41552 184 0.0606918
19-6374898-C-T p.Arg194Trp missense ALKBH7 1 83148 1.20267E-5 41574 0 8.28597E-6
19-6374899-G-A p.Arg194Gln missense ALKBH7 16 83152 1.92419E-4 41576 0 4.37825E-5
19-6374899-G-C p.Arg194Pro missense ALKBH7 2 83152 2.40523E-5 41576 0 NA
19-6374907-C-T p.Arg197Cys missense ALKBH7 4 83066 4.81545E-5 41533 0 9.55718E-5
19-6374908-G-C p.Arg197Pro missense ALKBH7 1 83046 1.20415E-5 41523 0 NA
19-6374908-G-T p.Arg197Leu missense ALKBH7 1 83046 1.20415E-5 41523 0 NA
19-6374915-C-G p.Ser199Ser synonymous ALKBH7 1 83034 1.20433E-5 41517 0 8.31642E-6
19-6374916-G-A p.Val200Met missense ALKBH7 4 83026 4.81777E-5 41513 0 3.18776E-5
19-6374922-T-TGCC p.Arg203dup conservative_inframe_insertion ALKBH7 1 83024 1.20447E-5 41512 0 3.98622E-6
19-6374925-C-G p.Arg203Gly missense ALKBH7 2 83002 2.40958E-5 41501 0 NA
19-6374925-C-T p.Arg203Cys missense ALKBH7 2 83002 2.40958E-5 41501 0 8.3357E-6
19-6374926-G-A p.Arg203His missense ALKBH7 1 82984 1.20505E-5 41492 0 0.00125156
19-6374930-C-T p.Ser204Ser synonymous ALKBH7 4 83002 4.81916E-5 41501 0 0.00100806
19-6374937-G-C p.Glu207Gln missense ALKBH7 1 83018 1.20456E-5 41509 0 NA
19-6374938-AG-A p.Gly208fs frameshift ALKBH7 1 83014 1.20462E-5 41507 0 NA
19-6374940-G-A p.Gly208Ser missense ALKBH7 1 83012 1.20465E-5 41506 0 4.1902E-5
19-6374943-A-G p.Met209Val missense ALKBH7 2 83004 2.40952E-5 41502 0 NA
19-6374943-A-C p.Met209Leu missense ALKBH7 1 83004 1.20476E-5 41502 0 NA
19-6374960-T-C p.Ser214Ser synonymous ALKBH7 1 82954 1.20549E-5 41477 0 NA
19-6374965-A-G p.Gln216Arg missense ALKBH7 1 82942 1.20566E-5 41471 0 NA
19-6374968-C-T p.Pro217Leu missense ALKBH7 1 82906 1.20619E-5 41453 0 1.7236E-5
19-6374969-G-A p.Pro217Pro synonymous ALKBH7 3 82890 3.61925E-5 41445 0 3.29508E-5