Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-8932693-C-T c.-84C>T 5_prime_UTR_premature_start_codon_gain AKIP1 1 6204 1.61186E-4 3102 0 NA
11-8932772-T-C c.-7+2T>C splice_donor AKIP1 3 25822 1.1618E-4 12911 0 NA
11-8932830-A-G c.-167A>G 5_prime_UTR_premature_start_codon_gain AKIP1 2 50426 3.96621E-5 25213 0 6.38244E-5
11-8932840-C-T c.-157C>T 5_prime_UTR_premature_start_codon_gain AKIP1 1 56006 1.78552E-5 28003 0 NA
11-8932844-C-T c.-153C>T 5_prime_UTR_premature_start_codon_gain AKIP1 315 57288 0.00549853 28644 0 0.00711505
11-8932901-G-T c.-96G>T 5_prime_UTR_premature_start_codon_gain AKIP1 1 74298 1.34593E-5 37149 0 NA
11-8932905-G-A c.-100+4G>A splice_region AKIP1 3 74960 4.00213E-5 37480 0 NA
11-8932923-C-T c.-74C>T 5_prime_UTR_premature_start_codon_gain AKIP1 2 77424 2.58318E-5 38712 0 NA
11-8932962-C-T c.-35C>T 5_prime_UTR_premature_start_codon_gain AKIP1 2 80540 2.48324E-5 40270 0 6.55394E-5
11-8932977-G-A c.-20G>A 5_prime_UTR_premature_start_codon_gain AKIP1 1 81124 1.23268E-5 40562 0 5.56118E-6
11-8932979-G-A c.-18G>A 5_prime_UTR_premature_start_codon_gain AKIP1 3 81160 3.6964E-5 40580 0 1.47871E-4
11-8932988-CAG-C c.-6-2_-6-1delAG splice_acceptor AKIP1 25 81318 3.07435E-4 40659 0 9.55962E-4
11-8933004-A-C p.Asn3Thr missense AKIP1 172 81510 0.00211017 40755 1 0.00392044
11-8933004-A-G p.Asn3Ser missense AKIP1 2 81514 2.45357E-5 40757 0 2.62964E-5
11-8933010-T-G p.Leu5Trp missense AKIP1 21 81544 2.5753E-4 40772 0 4.57655E-4
11-8933010-T-C p.Leu5Ser missense AKIP1 1 81544 1.22633E-5 40772 0 3.18776E-5
11-8933013-C-G p.Ala6Gly missense AKIP1 1 81566 1.226E-5 40783 0 NA
11-8933019-C-T p.Ala8Val missense AKIP1 5 81572 6.12955E-5 40786 0 6.37349E-5
11-8933028-A-T p.Asn11Ile missense AKIP1 1 81648 1.22477E-5 40824 0 4.29148E-6
11-8933029-T-C p.Asn11Asn synonymous AKIP1 1 81646 1.2248E-5 40823 0 NA
11-8933064-G-A p.Arg23Lys missense AKIP1 19919 81446 0.244567 40723 2728 0.318504
11-8933065-G-A p.Arg23Arg synonymous AKIP1 2 81878 2.44266E-5 40939 0 1.59286E-4
11-8933070-C-T p.Ala25Val missense AKIP1 1 81844 1.22184E-5 40922 0 NA
11-8933072-C-T p.Leu26Leu synonymous AKIP1 4 81860 4.88639E-5 40930 0 8.02513E-5
11-8933080-G-A p.Val28Val synonymous AKIP1 4 81904 4.88377E-5 40952 0 4.14807E-6
11-8933094-AGAG-A p.Arg35del conservative_inframe_deletion AKIP1 1 81916 1.22076E-5 40958 0 NA
11-8933108-G-A p.Asp38Asn missense AKIP1 3 81838 3.66578E-5 40919 0 5.42959E-5
11-8933115-A-G p.His40Arg missense AKIP1 2 81792 2.44523E-5 40896 0 1.07884E-5
11-8933121-T-TG p.Glu43fs frameshift AKIP1 1 81706 1.2239E-5 40853 0 NA
11-8933142-T-TG p.Val51fs frameshift AKIP1 1 81418 1.22823E-5 40709 0 2.2579E-5
11-8933142-T-G p.Met49Arg missense AKIP1 3 81418 3.68469E-5 40709 0 4.21735E-6
11-8933148-T-A p.Val51Asp missense AKIP1 2 81236 2.46196E-5 40618 0 4.30411E-6
11-8933151-T-C p.Leu52Pro missense AKIP1 72 81162 8.87115E-4 40581 0 0.00223471
11-8933169-A-T p.His58Leu missense AKIP1 2 80342 2.48936E-5 40171 0 NA
11-8933178-A-G p.Lys61Arg missense AKIP1 2 79942 2.50181E-5 39971 0 NA
11-8933180-C-G p.Gln62Glu missense AKIP1 8 79860 1.00175E-4 39930 0 3.29794E-5
11-8933185-G-A p.Pro63Pro synonymous AKIP1 1 79342 1.26037E-5 39671 0 1.63951E-5
11-8933186-G-A p.Ala64Thr missense AKIP1 8 79164 1.01056E-4 39582 0 8.36792E-5
11-8933195-C-G p.Pro67Ala missense AKIP1 2 78146 2.55931E-5 39073 0 NA
11-8933196-C-T p.Pro67Leu missense AKIP1 13 77998 1.66671E-4 38999 0 2.36612E-4
11-8933197-G-C p.Pro67Pro synonymous AKIP1 1 77802 1.28531E-5 38901 0 NA
11-8933197-G-T p.Pro67Pro synonymous AKIP1 1 77802 1.28531E-5 38901 0 NA
11-8933202-G-A p.Arg69His missense AKIP1 1 77288 1.29386E-5 38644 0 4.46728E-5
11-8933203-C-T p.Arg69Arg synonymous AKIP1 2 77106 2.59383E-5 38553 0 NA
11-8933210-C-T p.Pro72Ser missense AKIP1 1 76372 1.30938E-5 38186 0 5.94085E-6
11-8933211-C-T p.Pro72Leu missense AKIP1 3 76218 3.93608E-5 38109 0 1.27845E-4
11-8933213-G-A p.Gly73Arg missense AKIP1 1 75926 1.31707E-5 37963 0 2.79877E-5
11-8933214-G-A p.Gly73Glu missense AKIP1 1 75756 1.32003E-5 37878 0 3.19366E-5
11-8933218-G-GA c.222_222+1insA splice_donor AKIP1 3 75136 3.99276E-5 37568 1 NA
11-8934002-A-G p.Arg75Arg splice_region+synonymous AKIP1 3 83152 3.60785E-5 41576 0 3.97655E-6
11-8934006-G-T p.Glu77* stop_gained AKIP1 1 83192 1.20204E-5 41596 0 1.64761E-5
11-8934011-A-AC p.Thr81fs frameshift AKIP1 2 83210 2.40356E-5 41605 0 NA
11-8934061-A-G p.Tyr95Cys missense AKIP1 2 83210 2.40356E-5 41605 0 NA
11-8934079-G-A p.Gly101Glu missense+splice_region AKIP1 1 83158 1.20253E-5 41579 0 NA
11-8934080-G-GAAATATTATTCATCTGTGCCAGAGGAAGGAGGGGCAACCCAT c.303_303+1insAAATATTATTCATCTGTGCCAGAGGAAGGAGGGGCAACCCAT splice_donor AKIP1 1 83158 1.20253E-5 41579 0 NA
11-8934081-G-A c.303+1G>A splice_donor AKIP1 11 83148 1.32294E-4 41574 0 6.25E-4
11-8936365-G-A c.223-8G>A splice_region AKIP1 4 82410 4.85378E-5 41205 0 6.36943E-5
11-8936375-ATAT-A p.Tyr77del disruptive_inframe_deletion AKIP1 1 82700 1.20919E-5 41350 0 6.3678E-5
11-8936394-G-C p.Glu82Gln missense AKIP1 1 82970 1.20525E-5 41485 0 8.26269E-6
11-8936421-C-G p.Arg91Gly missense AKIP1 2 82958 2.41086E-5 41479 0 3.18512E-5
11-8936422-G-A p.Arg91His missense AKIP1 2 82966 2.41063E-5 41483 0 2.47815E-5
11-8936428-A-G p.His93Arg missense AKIP1 1 82968 1.20528E-5 41484 0 3.97747E-6
11-8936434-G-T p.Gly95Val missense AKIP1 9 82952 1.08496E-4 41476 0 0.00125
11-8936435-C-T p.Gly95Gly synonymous AKIP1 1 82938 1.20572E-5 41469 0 2.4795E-5
11-8936436-G-A p.Glu96Lys missense AKIP1 1 82936 1.20575E-5 41468 0 3.18512E-5
11-8936436-G-GATCATTGCATACACCACATTCC p.Glu96fs frameshift AKIP1 1 82936 1.20575E-5 41468 0 NA
11-8936438-G-A p.Glu96Glu synonymous AKIP1 6 82926 7.23537E-5 41463 0 1.65319E-5
11-8936440-C-CA p.Lys98fs frameshift AKIP1 1 82904 1.20621E-5 41452 0 3.9781E-6
11-8936460-G-C p.Asp104His missense AKIP1 224 82724 0.0027078 41362 0 0.00538285
11-8936460-G-A p.Asp104Asn missense AKIP1 2 82736 2.41733E-5 41368 0 3.98E-6
11-8936464-T-C p.Ile105Thr missense AKIP1 2156 82554 0.0261162 41277 41 0.035
11-8936472-G-A p.Gly108Ser missense AKIP1 1 82506 1.21203E-5 41253 0 NA
11-8936477-G-GAGAAAAGACA c.327_327+1insAGAAAAGACA splice_donor AKIP1 2 82398 2.42724E-5 41199 1 NA
11-8936480-A-G c.327+3A>G splice_region AKIP1 1 82286 1.21527E-5 41143 0 8.32182E-6
11-8936481-A-G c.327+4A>G splice_region AKIP1 2 82288 2.43049E-5 41144 0 1.59195E-4
11-8938833-G-A c.328-1G>A splice_acceptor AKIP1 2 81376 2.45773E-5 40688 0 NA
11-8938853-C-T p.Thr116Ile missense AKIP1 3 82036 3.65693E-5 41018 0 2.02372E-5
11-8938858-C-A p.Leu118Ile missense AKIP1 1 82168 1.21702E-5 41084 0 2.56253E-5
11-8938885-T-C p.Ser127Pro missense AKIP1 1 82340 1.21448E-5 41170 0 8.0007E-6
11-8938895-C-G p.Ala130Gly missense AKIP1 14 82254 1.70204E-4 41127 0 9.07891E-4
11-8938896-T-C p.Ala130Ala synonymous AKIP1 1 82244 1.21589E-5 41122 0 NA
11-8938913-C-T p.Pro136Leu missense+splice_region AKIP1 1 82106 1.21794E-5 41053 0 5.03525E-4
11-8938915-G-A c.408+1G>A splice_donor AKIP1 1 82060 1.21862E-5 41030 0 NA
11-8938916-T-C c.408+2T>C splice_donor AKIP1 1 82034 1.21901E-5 41017 0 NA
11-8938922-C-T p.Thr166Met missense AKIP1 4 81884 4.88496E-5 40942 0 1.38891E-4
11-8938924-G-A p.Glu167Lys missense AKIP1 1 81814 1.22228E-5 40907 0 NA
11-8938926-A-G p.Glu167Glu synonymous AKIP1 3 81714 3.67134E-5 40857 0 6.25E-4
11-8938934-C-T p.Thr170Met missense AKIP1 26548 79528 0.33382 39764 4834 0.393125
11-8938935-G-A p.Thr170Thr synonymous AKIP1 4 81298 4.92017E-5 40649 0 1.27389E-4
11-8938952-C-T p.Pro176Leu missense AKIP1 1 80128 1.248E-5 40064 0 5.35538E-5
11-8938957-C-A p.Gln178Lys missense AKIP1 26 79644 3.26453E-4 39822 0 3.82068E-4
11-8938957-C-G p.Gln178Glu missense AKIP1 2 79646 2.51111E-5 39823 0 NA
11-8938962-C-G p.Leu179Leu splice_region+synonymous AKIP1 2 79084 2.52896E-5 39542 0 NA
11-8938988-G-C p.Arg188Thr missense AKIP1 7 74904 9.3453E-5 37452 0 1.657E-4
11-8938990-G-A p.Gly189Arg missense AKIP1 2 74358 2.68969E-5 37179 0 NA
11-8939001-A-C p.Glu192Asp missense AKIP1 2 70844 2.8231E-5 35422 0 NA
11-8940876-C-T c.409-8C>T splice_region AKIP1 6 83234 7.20859E-5 41617 0 2.3347E-4
11-8940877-C-T c.409-7C>T splice_region AKIP1 1 83248 1.20123E-5 41624 0 1.66614E-5
11-8940889-G-C p.Glu138Asp missense AKIP1 9 83290 1.08056E-4 41645 0 0.001875
11-8940893-A-G p.Ile140Val missense AKIP1 1 83298 1.20051E-5 41649 0 NA
11-8940897-C-G p.Ser141Cys missense AKIP1 1 83314 1.20028E-5 41657 0 2.47721E-5
11-8940906-T-C p.Leu144Pro missense AKIP1 10 83330 1.20005E-4 41665 0 9.1551E-5
11-8940917-G-GTA p.Pro150fs frameshift AKIP1 2 83334 2.39998E-5 41667 0 NA
11-8940919-A-G p.Val148Val synonymous AKIP1 2 83332 2.40004E-5 41666 0 1.64777E-5
11-8940933-A-G p.Tyr153Cys missense AKIP1 2 83352 2.39946E-5 41676 0 3.18552E-5
11-8940944-G-A p.Val157Met missense AKIP1 1 83366 1.19953E-5 41683 0 0.00100705
11-8940952-A-C p.Ser159Ser synonymous AKIP1 1 83378 1.19936E-5 41689 0 3.9763E-6
11-8940956-G-A p.Asp161Asn missense AKIP1 1 83382 1.1993E-5 41691 0 NA
11-8940963-C-G p.Thr163Ser missense AKIP1 2 83372 2.39889E-5 41686 0 4.11896E-5
11-8940970-G-A p.Lys165Lys synonymous AKIP1 3 83376 3.59816E-5 41688 0 9.55475E-5
11-8940971-A-G p.Thr166Ala missense AKIP1 2 83376 2.39877E-5 41688 0 NA
11-8940974-C-CA p.His167fs frameshift AKIP1 1 83364 1.19956E-5 41682 0 NA
11-8940976-T-G p.His167Gln missense AKIP1 2 83368 2.399E-5 41684 0 2.47145E-5
11-8940986-G-A p.Val171Ile missense AKIP1 2 83368 2.399E-5 41684 0 NA
11-8940989-G-A p.Asp172Asn missense AKIP1 112 83372 0.00134338 41686 2 0.00165616
11-8940993-C-T p.Ser173Phe missense AKIP1 2 83360 2.39923E-5 41680 0 NA
11-8940996-G-C p.Gly174Ala missense AKIP1 1 83360 1.19962E-5 41680 0 5.03525E-4
11-8941006-G-A p.Val177Val synonymous AKIP1 50 83358 5.99822E-4 41679 0 8.60256E-4
11-8941013-G-C p.Val180Leu missense AKIP1 3 83346 3.59945E-5 41673 0 1.99216E-5
11-8941026-GA-AT p.Ter184Tyrext*? stop_lost AKIP1 1 83330 1.20005E-5 41665 0 NA
11-8941447-G-A c.*420G>A splice_region AKIP1 1 4120 2.42718E-4 2060 0 NA