Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
11-105948239-C-T c.-199C>T 5_prime_UTR_premature_start_codon_gain AASDHPPT 11 53930 2.03968E-4 26965 0 9.55657E-5
11-105948246-C-G c.-192C>G 5_prime_UTR_premature_start_codon_gain AASDHPPT 3 57712 5.19823E-5 28856 0 3.18573E-5
11-105948247-C-T c.-191C>T 5_prime_UTR_premature_start_codon_gain AASDHPPT 1 58144 1.71987E-5 29072 0 NA
11-105948307-G-T c.-131G>T 5_prime_UTR_premature_start_codon_gain AASDHPPT 6 74488 8.05499E-5 37244 0 NA
11-105948316-G-A c.-122G>A 5_prime_UTR_premature_start_codon_gain AASDHPPT 1 75830 1.31874E-5 37915 0 3.18532E-5
11-105948337-C-T c.-101C>T 5_prime_UTR_premature_start_codon_gain AASDHPPT 2 78060 2.56213E-5 39030 0 6.37064E-5
11-105948375-G-A c.-63G>A 5_prime_UTR_premature_start_codon_gain AASDHPPT 1 81220 1.23122E-5 40610 0 NA
11-105948388-T-G c.-50T>G 5_prime_UTR_premature_start_codon_gain AASDHPPT 2 82008 2.43879E-5 41004 0 NA
11-105948408-C-T c.-30C>T 5_prime_UTR_premature_start_codon_gain AASDHPPT 1 82554 1.21133E-5 41277 0 4.084E-6
11-105948414-A-G c.-24A>G 5_prime_UTR_premature_start_codon_gain AASDHPPT 1 82658 1.2098E-5 41329 0 4.04868E-6
11-105948438-A-T p.Met1? initiator_codon AASDHPPT 1 82874 1.20665E-5 41437 0 NA
11-105948454-A-AACGGTTCTG p.Phe8_Cys9insTerArgPhe stop_gained AASDHPPT 1 82938 1.20572E-5 41469 0 8.27089E-6
11-105948454-A-G p.Lys6Arg missense AASDHPPT 2 82938 2.41144E-5 41469 0 6.37146E-5
11-105948472-C-T p.Pro12Leu missense AASDHPPT 4 82864 4.82719E-5 41432 0 1.27421E-4
11-105948476-C-T p.Ser13Ser synonymous AASDHPPT 12 82844 1.44851E-4 41422 0 8.28342E-4
11-105948484-G-A p.Gly16Asp missense AASDHPPT 1 82756 1.20837E-5 41378 0 NA
11-105948486-G-C p.Val17Leu missense AASDHPPT 3 82756 3.62511E-5 41378 0 7.96064E-6
11-105948512-T-A p.Thr25Thr synonymous AASDHPPT 1 82578 1.21098E-5 41289 0 NA
11-105948528-G-A p.Ala31Thr missense AASDHPPT 2 83066 2.40772E-5 41533 0 NA
11-105948533-A-C p.Glu32Asp missense AASDHPPT 1 83098 1.2034E-5 41549 0 7.95545E-6
11-105948545-A-C p.Ala36Ala synonymous AASDHPPT 1 83088 1.20354E-5 41544 0 1.65003E-5
11-105948548-G-A p.Val37Val synonymous AASDHPPT 4 83090 4.81406E-5 41545 0 NA
11-105948563-C-T p.Pro42Pro synonymous AASDHPPT 493 83138 0.0059299 41569 4 0.0163037
11-105948566-G-C p.Glu43Asp missense AASDHPPT 27 83164 3.2466E-4 41582 0 1.71039E-4
11-105948569-G-A p.Glu44Glu synonymous AASDHPPT 1 83172 1.20233E-5 41586 0 NA
11-105948577-G-A p.Arg47His missense AASDHPPT 26 83158 3.12658E-4 41579 0 2.55801E-4
11-105948578-C-T p.Arg47Arg synonymous AASDHPPT 1 83164 1.20244E-5 41582 0 NA
11-105948587-G-A p.Gln50Gln synonymous AASDHPPT 2 83180 2.40442E-5 41590 0 8.25423E-6
11-105948590-C-T p.Phe51Phe synonymous AASDHPPT 2 83174 2.4046E-5 41587 0 8.25641E-6
11-105948594-T-G p.Phe53Val missense AASDHPPT 1 83180 1.20221E-5 41590 0 3.97953E-6
11-105948621-G-GCTGGTCGTCTGATGATAAGGAAATTAGTTGCAGAGAAATTGAATATCCC c.183+1_183+2insCTGGTCGTCTGATGATAAGGAAATTAGTTGCAGAGAAATTGAATATCCC splice_donor AASDHPPT 2 82988 2.40999E-5 41494 1 NA
11-105948621-G-GTAC c.183+1_183+2insTAC splice_donor AASDHPPT 2 82988 2.40999E-5 41494 0 3.18492E-5
11-105948628-A-G c.183+8A>G splice_region AASDHPPT 1 82816 1.2075E-5 41408 0 8.36428E-6
11-105950200-C-G p.Arg64Gly missense AASDHPPT 1 82810 1.20758E-5 41405 0 NA
11-105950201-G-A p.Arg64His missense AASDHPPT 5 82854 6.03471E-5 41427 0 7.95652E-5
11-105950201-G-T p.Arg64Leu missense AASDHPPT 2 82852 2.41394E-5 41426 0 1.73148E-5
11-105950209-A-G p.Ile67Val missense AASDHPPT 1 82972 1.20523E-5 41486 0 NA
11-105950224-G-A p.Ala72Thr missense AASDHPPT 4 83102 4.81336E-5 41551 0 1.44662E-4
11-105950237-A-G p.Asn76Ser missense AASDHPPT 1 83168 1.20239E-5 41584 0 3.98905E-6
11-105950237-A-C p.Asn76Thr missense AASDHPPT 2 83168 2.40477E-5 41584 0 NA
11-105950245-T-G p.Trp79Gly missense AASDHPPT 2 83186 2.40425E-5 41593 0 3.18492E-5
11-105950249-A-AT p.His81fs frameshift AASDHPPT 2 83210 2.40356E-5 41605 0 3.47518E-5
11-105950257-C-T p.Arg83Cys missense AASDHPPT 2 83240 2.40269E-5 41620 0 1.59246E-5
11-105950258-G-A p.Arg83His missense AASDHPPT 1 83230 1.20149E-5 41615 0 1.15429E-4
11-105950275-A-C p.Lys89Gln missense AASDHPPT 1 83258 1.20109E-5 41629 0 NA
11-105950284-C-T p.Pro92Ser missense AASDHPPT 5 83274 6.00428E-5 41637 0 NA
11-105950296-A-G p.Lys96Glu missense AASDHPPT 1 83280 1.20077E-5 41640 0 6.36862E-5
11-105950304-A-T p.Ser98Ser synonymous AASDHPPT 1 83290 1.20062E-5 41645 0 NA
11-105950306-C-T p.Ser99Leu missense AASDHPPT 1 83290 1.20062E-5 41645 0 8.23818E-6
11-105950307-G-A p.Ser99Ser synonymous AASDHPPT 2 83290 2.40125E-5 41645 0 NA
11-105950309-A-G p.Asn100Ser missense AASDHPPT 1 83296 1.20054E-5 41648 0 1.19306E-5
11-105950315-A-G p.Tyr102Cys missense AASDHPPT 1 83310 1.20034E-5 41655 0 3.29511E-5
11-105950318-C-T p.Pro103Leu missense AASDHPPT 3 83318 3.60066E-5 41659 0 1.27405E-4
11-105950319-G-A p.Pro103Pro synonymous AASDHPPT 5 83308 6.00182E-5 41654 0 4.11882E-5
11-105950327-A-C p.Asn106Thr missense AASDHPPT 1 83314 1.20028E-5 41657 0 NA
11-105950340-T-C p.Ser110Ser synonymous AASDHPPT 132 83314 0.00158437 41657 1 0.00403652
11-105950348-G-A p.Gly113Glu missense AASDHPPT 1 83320 1.20019E-5 41660 0 8.23655E-6
11-105950358-A-G p.Ala116Ala synonymous AASDHPPT 3 83318 3.60066E-5 41659 0 2.47101E-5
11-105950406-G-C p.Lys132Asn missense AASDHPPT 1 83260 1.20106E-5 41630 0 7.959E-6
11-105950421-T-TCGTGGTTCAATTCCAGAATTCTTTCATATTATGAAAAGAAAGTTTACC c.409+2_409+3insCGTGGTTCAATTCCAGAATTCTTTCATATTATGAAAAGAAAGTTTACC splice_region AASDHPPT 2 83206 2.40367E-5 41603 1 NA
11-105950422-A-G c.409+3A>G splice_region AASDHPPT 2 83176 2.40454E-5 41588 0 2.78682E-5
11-105950425-G-A c.409+6G>A splice_region AASDHPPT 2 83142 2.40552E-5 41571 0 6.37146E-5
11-105961295-A-G p.Ile141Val missense AASDHPPT 9 82752 1.08759E-4 41376 0 0.00151362
11-105961346-G-A p.Glu158Lys missense AASDHPPT 6 83016 7.22752E-5 41508 0 8.93759E-4
11-105961361-T-C p.Phe163Leu missense AASDHPPT 1 82990 1.20496E-5 41495 0 2.48008E-5
11-105961366-G-A p.Lys164Lys synonymous AASDHPPT 1 82970 1.20525E-5 41485 0 2.47963E-5
11-105961368-A-T p.Asp165Val missense AASDHPPT 1 82974 1.2052E-5 41487 0 NA
11-105961387-T-C p.Asp171Asp synonymous AASDHPPT 1 82930 1.20584E-5 41465 0 8.61757E-6
11-105961388-A-G p.Met172Val missense AASDHPPT 1 82916 1.20604E-5 41458 0 8.26651E-6
11-105961406-G-GCACTTAAGGAAAGCTTCATAAAAGCCATTGGTGTTGGAC c.531+1_531+2insCACTTAAGGAAAGCTTCATAAAAGCCATTGGTGTTGGAC splice_donor AASDHPPT 1 82772 1.20814E-5 41386 0 NA
11-105962045-A-C p.Thr138Pro missense+splice_region AASDHPPT 2 82354 2.42854E-5 41177 0 NA
11-105962062-T-C p.Ile184Thr missense AASDHPPT 1 82706 1.2091E-5 41353 0 NA
11-105962070-A-G p.Ile187Val missense AASDHPPT 28 82808 3.38132E-4 41404 0 4.99392E-5
11-105962071-T-C p.Ile187Thr missense AASDHPPT 2 82814 2.41505E-5 41407 0 8.32238E-6
11-105962083-T-C p.Leu191Pro missense AASDHPPT 1 82920 1.20598E-5 41460 0 NA
11-105962084-A-G p.Leu191Leu synonymous AASDHPPT 1 82924 1.20592E-5 41462 0 NA
11-105962096-G-C p.Leu195Phe missense AASDHPPT 1 82958 1.20543E-5 41479 0 NA
11-105962098-A-G p.Gln196Arg missense AASDHPPT 1 82944 1.20563E-5 41472 0 NA
11-105962103-C-T p.Leu198Phe missense AASDHPPT 1 82936 1.20575E-5 41468 0 NA
11-105962112-G-C p.Asp201His missense AASDHPPT 1 82974 1.2052E-5 41487 0 NA
11-105962117-A-G p.Leu202Leu synonymous AASDHPPT 1 83026 1.20444E-5 41513 0 5.03525E-4
11-105962118-T-G p.Ser203Ala missense AASDHPPT 1 83028 1.20441E-5 41514 0 NA
11-105962123-A-G p.Pro204Pro synonymous AASDHPPT 2 83022 2.409E-5 41511 0 4.13216E-5
11-105962136-A-G p.Ile209Val missense AASDHPPT 1 83012 1.20465E-5 41506 0 1.22081E-5
11-105962160-C-T p.Arg217Cys missense AASDHPPT 1 82950 1.20555E-5 41475 0 4.26599E-6
11-105962161-G-A p.Arg217His missense AASDHPPT 1 82956 1.20546E-5 41478 0 1.28081E-5
11-105962175-G-A p.Gly222Arg missense AASDHPPT 1 82898 1.2063E-5 41449 0 NA
11-105962191-A-C p.Glu227Ala missense AASDHPPT 11 82670 1.33059E-4 41335 0 5.03525E-4
11-105962196-GC-AA p.Ala229Lys missense AASDHPPT 3 82596 3.63214E-5 41298 0 NA
11-105962207-A-G c.693+3A>G splice_region AASDHPPT 1 82400 1.21359E-5 41200 0 6.37105E-5
11-105965303-C-A c.694-7C>A splice_region AASDHPPT 1 82130 1.21758E-5 41065 0 4.165E-6
11-105965307-C-G c.694-3C>G splice_region AASDHPPT 1 82160 1.21714E-5 41080 0 NA
11-105965310-G-C p.Glu232Gln missense+splice_region AASDHPPT 1 82230 1.2161E-5 41115 0 8.24654E-6
11-105965352-A-G p.Arg246Gly missense AASDHPPT 2 82538 2.42313E-5 41269 0 3.18512E-5
11-105965358-C-T p.Pro248Ser missense AASDHPPT 2 82454 2.42559E-5 41227 0 4.09283E-6
11-105965361-G-A p.Asp249Asn missense AASDHPPT 28 82418 3.39732E-4 41209 0 0.00151057
11-105965363-T-C p.Asp249Asp synonymous AASDHPPT 6 82468 7.27555E-5 41234 0 0.00100705
11-105965365-G-A p.Gly250Glu missense AASDHPPT 3 82506 3.6361E-5 41253 0 NA
11-105965373-C-T p.His253Tyr missense AASDHPPT 1 82494 1.21221E-5 41247 0 5.23149E-5
11-105965383-T-TTCCATCTCAGGATGATTCCAAACCAACCCAGAGGC c.765+2_765+3insTCCATCTCAGGATGATTCCAAACCAACCCAGAGGC splice_region AASDHPPT 2 82176 2.4338E-5 41088 1 NA
11-105965387-A-T c.765+6A>T splice_region AASDHPPT 2 82102 2.43599E-5 41051 0 NA
11-105965388-T-C c.765+7T>C splice_region AASDHPPT 1 82096 1.21809E-5 41048 0 4.33606E-6
11-105967505-G-A p.Arg267Arg synonymous AASDHPPT 7 82694 8.46494E-5 41347 0 6.38121E-5
11-105967505-G-T p.Arg267Ser missense AASDHPPT 1 82694 1.20928E-5 41347 0 NA
11-105967515-A-G p.Ile271Val missense AASDHPPT 1 82756 1.20837E-5 41378 0 8.24552E-6
11-105967517-T-G p.Ile271Met missense AASDHPPT 1 82778 1.20805E-5 41389 0 NA
11-105967540-C-T p.Ser279Leu missense AASDHPPT 1 82870 1.20671E-5 41435 0 8.01552E-6
11-105967547-C-T p.Ala281Ala synonymous AASDHPPT 122 82862 0.00147233 41431 0 0.00306122
11-105967548-G-A p.Val282Ile missense AASDHPPT 9 82858 1.0862E-4 41429 0 5.03525E-4
11-105967554-A-G p.Met284Val missense AASDHPPT 2 82868 2.41348E-5 41434 0 8.25941E-6
11-105967578-T-C p.Trp292Arg missense AASDHPPT 1 82824 1.20738E-5 41412 0 NA
11-105967581-G-A p.Asp293Asn missense AASDHPPT 3 82804 3.62301E-5 41402 0 6.37796E-5
11-105967581-G-C p.Asp293His missense AASDHPPT 1 82804 1.20767E-5 41402 0 8.28528E-6
11-105967611-A-G p.Ile303Val missense AASDHPPT 1 82604 1.2106E-5 41302 0 4.0474E-6
11-105967615-G-A p.Arg304Gln missense AASDHPPT 1 82544 1.21148E-5 41272 0 5.28683E-5