Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
4-186317260-C-T c.-411C>T 5_prime_UTR_premature_start_codon_gain ANKRD37 15 11242 0.00133428 5621 0 9.57977E-5
4-186317832-C-G c.-246C>G 5_prime_UTR_premature_start_codon_gain ANKRD37 1 44870 2.22866E-5 22435 0 NA
4-186317836-G-C c.-242G>C 5_prime_UTR_premature_start_codon_gain ANKRD37 1 46206 2.16422E-5 23103 0 NA
4-186317836-G-A c.-242G>A 5_prime_UTR_premature_start_codon_gain ANKRD37 1 46206 2.16422E-5 23103 0 NA
4-186317848-G-C c.-230G>C 5_prime_UTR_premature_start_codon_gain ANKRD37 25 51872 4.81956E-4 25936 0 3.50631E-4
4-186317854-G-T c.-224G>T 5_prime_UTR_premature_start_codon_gain ANKRD37 1 53160 1.88111E-5 26580 0 NA
4-186317858-G-T c.-220G>T 5_prime_UTR_premature_start_codon_gain ANKRD37 3 54486 5.506E-5 27243 0 9.56328E-5
4-186317883-C-T c.-195C>T 5_prime_UTR_premature_start_codon_gain ANKRD37 1 60242 1.65997E-5 30121 0 NA
4-186317888-C-T c.-190C>T 5_prime_UTR_premature_start_codon_gain ANKRD37 3 61102 4.90982E-5 30551 0 1.5949E-4
4-186317949-C-T c.-129C>T 5_prime_UTR_premature_start_codon_gain ANKRD37 2 72934 2.74221E-5 36467 0 NA
4-186317962-G-T c.-116G>T 5_prime_UTR_premature_start_codon_gain ANKRD37 1 75988 1.316E-5 37994 0 NA
4-186317978-C-G c.-92-8C>G splice_region ANKRD37 3 78552 3.81913E-5 39276 0 NA
4-186317978-C-A c.-92-8C>A splice_region ANKRD37 1 78552 1.27304E-5 39276 0 NA
4-186317979-G-A c.-99G>A 5_prime_UTR_premature_start_codon_gain ANKRD37 1 78598 1.2723E-5 39299 0 NA
4-186317982-C-T c.-92-4C>T splice_region ANKRD37 1 79144 1.26352E-5 39572 0 NA
4-186317986-G-A c.-92G>A splice_region ANKRD37 4 79958 5.00263E-5 39979 0 NA
4-186318030-C-G c.-48C>G 5_prime_UTR_premature_start_codon_gain ANKRD37 1 82908 1.20616E-5 41454 0 NA
4-186318081-C-G p.Leu2Val missense ANKRD37 1 83238 1.20137E-5 41619 0 2.47472E-5
4-186318092-T-C p.Asp5Asp synonymous ANKRD37 1 83240 1.20135E-5 41620 0 NA
4-186318101-C-T p.Pro8Pro synonymous ANKRD37 4 83210 4.80711E-5 41605 0 2.47553E-5
4-186318107-G-GGATGGTCTGAAGCATTTGCTGGAGAC c.27+3_27+4insGATGGTCTGAAGCATTTGCTGGAGAC splice_region ANKRD37 1 83226 1.20155E-5 41613 0 NA
4-186318297-C-T c.28-7C>T splice_region ANKRD37 2 82736 2.41733E-5 41368 0 NA
4-186318322-TTGC-T p.Leu17del conservative_inframe_deletion ANKRD37 1 82790 1.20788E-5 41395 0 3.97871E-6
4-186318327-G-A p.Leu17Leu synonymous ANKRD37 2 82750 2.41692E-5 41375 0 NA
4-186318328-G-C p.Glu18Gln missense ANKRD37 1 82754 1.2084E-5 41377 0 NA
4-186318335-G-T p.Gly20Val missense ANKRD37 1 82726 1.20881E-5 41363 0 3.97896E-6
4-186318345-C-G p.Val23Val synonymous ANKRD37 2 82738 2.41727E-5 41369 0 6.37024E-5
4-186318347-A-G p.Asn24Ser missense ANKRD37 82 82748 9.90961E-4 41374 2 0.00201613
4-186318348-C-T p.Asn24Asn synonymous ANKRD37 1 82736 1.20866E-5 41368 0 3.97924E-6
4-186318376-C-G p.Pro34Ala missense ANKRD37 3 82698 3.62766E-5 41349 0 1.6556E-5
4-186318377-C-T p.Pro34Leu missense ANKRD37 96 82712 0.00116065 41356 0 0.0013054
4-186318382-C-T p.His36Tyr missense ANKRD37 1 82712 1.20901E-5 41356 0 3.98105E-6
4-186318387-A-G p.Leu37Leu synonymous ANKRD37 1 82716 1.20896E-5 41358 0 8.28761E-6
4-186318394-G-A p.Gly40Arg missense ANKRD37 8 82642 9.68031E-5 41321 0 1.59185E-4
4-186318395-G-C p.Gly40Ala missense ANKRD37 1 82646 1.20998E-5 41323 0 NA
4-186318399-C-A p.Ser41Arg missense ANKRD37 7 82576 8.47704E-5 41288 0 7.96546E-6
4-186318406-G-A p.Ala44Thr missense ANKRD37 41 82520 4.96849E-4 41260 0 5.04032E-4
4-186318411-C-G p.Cys45Trp missense ANKRD37 1 82538 1.21156E-5 41269 0 NA
4-186318414-T-G p.Phe46Leu missense ANKRD37 365 82524 0.00442296 41262 2 0.01125
4-186318420-C-G p.Leu48Leu synonymous ANKRD37 1 82506 1.21203E-5 41253 0 3.1835E-5
4-186318435-G-C p.Thr53Thr synonymous ANKRD37 1 82386 1.2138E-5 41193 0 NA
4-186318441-T-C p.Ala55Ala synonymous ANKRD37 1 82334 1.21457E-5 41167 0 NA
4-186318444-C-T p.Asp56Asp synonymous ANKRD37 3 82306 3.64493E-5 41153 0 NA
4-186318449-A-G p.Asn58Ser missense ANKRD37 1 82300 1.21507E-5 41150 0 3.99342E-6
4-186318457-G-GATGTTTTAGGAGAAGCTCCACTACACAAGGCAGCAAAAGT c.180+1_180+2insATGTTTTAGGAGAAGCTCCACTACACAAGGCAGCAAAAGT splice_donor ANKRD37 1 82164 1.21708E-5 41082 0 NA
4-186318457-G-A c.180+1G>A splice_donor ANKRD37 1 82164 1.21708E-5 41082 0 8.00179E-6
4-186318458-T-G c.180+2T>G splice_donor ANKRD37 1 82118 1.21776E-5 41059 0 NA
4-186320079-TCTTAC-T c.181-11_181-7delCTTAC splice_region ANKRD37 2 83062 2.40784E-5 41531 0 NA
4-186320087-T-A c.181-4T>A splice_region ANKRD37 1 83162 1.20247E-5 41581 0 NA
4-186320106-G-A p.Ala66Thr missense ANKRD37 1 83236 1.2014E-5 41618 0 NA
4-186320117-C-CA p.Ala71fs frameshift ANKRD37 1 83256 1.20111E-5 41628 0 3.18451E-5
4-186320132-T-C p.Leu71Ser missense ANKRD37 1 83250 1.2012E-5 41625 0 NA
4-186320148-C-G p.Leu80Val missense ANKRD37 2 83260 2.40211E-5 41630 0 8.24974E-6
4-186320152-G-A p.Ser81Asn missense ANKRD37 1 83254 1.20114E-5 41627 0 3.30022E-5
4-186320170-A-G p.Asp87Gly missense ANKRD37 2 83224 2.40315E-5 41612 0 3.1835E-5
4-186320172-G-A p.Ala88Thr missense ANKRD37 2 83222 2.40321E-5 41611 0 3.1841E-5
4-186320172-G-T p.Ala88Ser missense ANKRD37 1 83224 1.20158E-5 41612 0 NA
4-186320179-TTGAG-T p.Asp91del splice_donor ANKRD37 2 83202 2.40379E-5 41601 0 4.96582E-5
4-186320185-G-A c.272+3G>A splice_region ANKRD37 1 83196 1.20198E-5 41598 0 6.25E-4
4-186320189-A-T c.272+7A>T splice_region ANKRD37 1 83184 1.20215E-5 41592 0 NA
4-186320710-TATCCTGTTTTCAGTTTATGTAATAAG-T p.Asp91fs frameshift ANKRD37 1 83272 1.20088E-5 41636 0 3.1835E-5
4-186320725-T-G p.Leu92Val missense+splice_region ANKRD37 1 83302 1.20045E-5 41651 0 NA
4-186320739-C-T p.Asn96Asn synonymous ANKRD37 3 83312 3.60092E-5 41656 0 6.25E-4
4-186320740-G-A p.Gly97Arg missense ANKRD37 10 83312 1.20031E-4 41656 0 0.001875
4-186320745-A-C p.Gln98His missense ANKRD37 1 83314 1.20028E-5 41657 0 NA
4-186320750-C-T p.Ala100Val missense ANKRD37 1 83314 1.20028E-5 41657 0 NA
4-186320752-G-A p.Glu101Lys missense ANKRD37 2 83320 2.40038E-5 41660 0 8.24348E-6
4-186320760-C-T p.Leu103Leu synonymous ANKRD37 1 83326 1.20011E-5 41663 0 3.97693E-6
4-186320761-G-A p.Ala104Thr missense ANKRD37 5 83330 6.00024E-5 41665 0 9.55414E-5
4-186320764-T-G p.Trp105Gly missense ANKRD37 1 83326 1.20011E-5 41663 0 NA
4-186320769-A-T p.Ser106Ser synonymous ANKRD37 1 83328 1.20008E-5 41664 0 NA
4-186320777-T-G p.Phe109Cys missense ANKRD37 3 83324 3.6004E-5 41662 0 NA
4-186320790-C-G p.Ala113Ala synonymous ANKRD37 8 83336 9.59969E-5 41668 0 8.23968E-5
4-186320797-C-G p.Leu116Val missense ANKRD37 1 83340 1.1999E-5 41670 0 2.47182E-5
4-186320798-T-G p.Leu116Arg missense ANKRD37 1 83342 1.19988E-5 41671 0 NA
4-186320801-C-A p.Thr117Lys missense ANKRD37 2 83336 2.39992E-5 41668 0 2.47207E-5
4-186320831-C-T p.Ala127Val missense ANKRD37 1 83334 1.19999E-5 41667 0 3.97668E-6
4-186320842-C-G p.Pro131Ala missense ANKRD37 1 83326 1.20011E-5 41663 0 NA
4-186320857-T-C p.Cys136Arg missense ANKRD37 3 83326 3.60032E-5 41663 0 2.47394E-5
4-186320864-C-T p.Ala138Val missense ANKRD37 2 83314 2.40056E-5 41657 0 NA
4-186320865-C-T p.Ala138Ala synonymous ANKRD37 2 83316 2.4005E-5 41658 0 9.94613E-5
4-186320874-A-G p.Arg141Arg synonymous ANKRD37 1 83316 1.20025E-5 41658 0 9.55049E-5
4-186320880-A-G p.Lys143Lys synonymous ANKRD37 4501 83252 0.0540648 41626 175 0.0704275
4-186320881-C-T p.Arg144Trp missense ANKRD37 8 83296 9.6043E-5 41648 0 6.36902E-5
4-186320882-G-A p.Arg144Gln missense ANKRD37 2 83290 2.40125E-5 41645 0 4.13332E-5
4-186320889-C-T p.Leu146Leu synonymous ANKRD37 1 83252 1.20117E-5 41626 0 1.65437E-5
4-186320890-G-A p.Gly147Arg missense ANKRD37 178 83242 0.00213834 41621 1 0.014375
4-186320896-G-A p.Val149Ile missense ANKRD37 4 83238 4.8055E-5 41619 0 5.03525E-4
4-186320897-T-C p.Val149Ala missense ANKRD37 4 83238 4.8055E-5 41619 0 NA
4-186320906-C-G p.Thr152Ser missense ANKRD37 4548 83126 0.0547121 41563 175 0.0724665
4-186320910-T-C p.Ser153Ser synonymous ANKRD37 28 83180 3.36619E-4 41590 0 4.77707E-4
4-186320924-G-A p.Cys158Tyr missense ANKRD37 1 83082 1.20363E-5 41541 0 NA
4-186320925-C-G p.Cys158Trp missense+splice_region ANKRD37 2 83074 2.40749E-5 41537 0 NA
4-186320927-GGTAA-G c.476+5_476+8delGTAA splice_region ANKRD37 7 83072 8.42643E-5 41536 0 3.18532E-5
4-186320927-G-A p.Ter159Ter splice_region ANKRD37 1 83072 1.20378E-5 41536 0 7.99936E-6
4-186320927-G-GAT c.476_476+1insAT splice_donor ANKRD37 1 83072 1.20378E-5 41536 0 NA
4-186320932-G-A c.476+5G>A splice_region ANKRD37 2 83034 2.40865E-5 41517 0 1.66248E-5
4-186320932-G-C c.476+5G>C splice_region ANKRD37 2 83034 2.40865E-5 41517 0 4.00067E-6
4-186321157-G-GT c.477-9dupT splice_region ANKRD37 55 82556 6.66214E-4 41278 0 6.07987E-4