Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
1-11796219-A-G c.-47A>G 5_prime_UTR_premature_start_codon_gain AGTRAP 2 79336 2.52092E-5 39668 0 3.18695E-5
1-11796256-C-T c.-10C>T 5_prime_UTR_premature_start_codon_gain AGTRAP 1 79984 1.25025E-5 39992 0 4.35343E-6
1-11796272-C-T p.Leu3Leu synonymous AGTRAP 2 80082 2.49744E-5 40041 0 3.84829E-5
1-11796275-C-T p.Pro4Ser missense AGTRAP 1 80104 1.24838E-5 40052 0 NA
1-11796276-C-G p.Pro4Arg missense AGTRAP 4 80118 4.99264E-5 40059 0 1.91168E-4
1-11796289-G-A p.Leu8Leu synonymous AGTRAP 2 80076 2.49763E-5 40038 0 0.00152439
1-11796291-A-G p.Lys9Arg missense+splice_region AGTRAP 3 79998 3.75009E-5 39999 0 1.27727E-5
1-11796296-G-T c.27+4G>T splice_region AGTRAP 2 79900 2.50313E-5 39950 1 NA
1-11804585-C-A c.28-5C>A splice_region AGTRAP 2 52914 3.77972E-5 26457 0 0.00125
1-11804585-C-T c.28-5C>T splice_region AGTRAP 1 52914 1.88986E-5 26457 0 1.34503E-5
1-11804586-A-C c.28-4A>C splice_region AGTRAP 1 52886 1.89086E-5 26443 0 NA
1-11804590-T-G p.Cys10Gly missense+splice_region AGTRAP 2499 52766 0.04736 26383 87 0.0617107
1-11804592-C-T p.Cys10Cys splice_region+synonymous AGTRAP 150 52920 0.00283447 26460 0 0.00516219
1-11804593-G-A p.Ala11Thr missense AGTRAP 1 52902 1.89029E-5 26451 0 5.83362E-5
1-11804604-T-C p.Ser14Ser synonymous AGTRAP 1 53014 1.88629E-5 26507 0 NA
1-11804607-C-T p.Val15Val synonymous AGTRAP 4 53036 7.54205E-5 26518 0 1.16023E-4
1-11804625-C-T p.His21His splice_region+synonymous AGTRAP 2 53018 3.7723E-5 26509 0 6.69703E-6
1-11804626-G-A c.63+1G>A splice_donor AGTRAP 2 52994 3.77401E-5 26497 0 6.70035E-6
1-11805856-A-G c.28-4A>G splice_region AGTRAP 2 82398 2.42724E-5 41199 0 1.19292E-5
1-11805865-T-C p.Ile11Ile synonymous AGTRAP 1 82466 1.21262E-5 41233 0 NA
1-11805866-C-T p.Leu12Phe missense AGTRAP 1 82478 1.21244E-5 41239 0 3.97636E-6
1-11805868-C-T p.Leu12Leu synonymous AGTRAP 1 82482 1.21239E-5 41241 0 2.38582E-5
1-11805869-C-A p.Leu13Ile missense AGTRAP 1 82472 1.21253E-5 41236 0 NA
1-11805892-C-T p.Thr20Thr splice_region+synonymous AGTRAP 4 82448 4.85154E-5 41224 0 NA
1-11805895-G-A c.62+1G>A splice_donor AGTRAP 1 82426 1.21321E-5 41213 0 6.25E-4
1-11805985-A-G n.130-2A>G splice_acceptor AGTRAP 1 81748 1.22327E-5 40874 0 NA
1-11805987-G-A n.130G>A splice_region AGTRAP 3 81724 3.67089E-5 40862 0 1.91217E-4
1-11806040-A-G c.63-5A>G splice_region AGTRAP 1 80728 1.23873E-5 40364 0 NA
1-11806073-T-G p.Trp31Gly missense AGTRAP 2 80802 2.47519E-5 40401 0 NA
1-11806074-G-A p.Trp31* stop_gained AGTRAP 1 80790 1.23778E-5 40395 0 NA
1-11806075-G-A p.Trp31* stop_gained AGTRAP 1 80774 1.23802E-5 40387 0 NA
1-11806084-C-T p.Asp34Asp synonymous AGTRAP 4 80778 4.95184E-5 40389 0 4.29197E-5
1-11806085-G-T p.Val35Leu missense AGTRAP 12 80848 1.48427E-4 40424 0 4.14118E-4
1-11806085-G-A p.Val35Met missense AGTRAP 2 80848 2.47378E-5 40424 0 1.43E-5
1-11806091-G-C p.Val37Leu missense AGTRAP 1 81090 1.2332E-5 40545 0 NA
1-11806128-A-C p.Glu49Ala missense AGTRAP 2 81972 2.43986E-5 40986 0 NA
1-11806166-C-T p.Leu62Phe missense AGTRAP 1 82904 1.20621E-5 41452 0 9.2219E-5
1-11806180-T-A c.99-4T>A splice_region AGTRAP 4 83038 4.81707E-5 41519 0 NA
1-11806195-A-C p.His37Pro missense AGTRAP 1 83130 1.20294E-5 41565 0 NA
1-11806205-C-A p.Ala40Ala synonymous AGTRAP 1 83168 1.20239E-5 41584 0 NA
1-11806209-C-A p.Pro42Thr missense AGTRAP 1 83174 1.2023E-5 41587 0 3.62864E-5
1-11806209-C-T p.Pro42Ser missense AGTRAP 1 83174 1.2023E-5 41587 0 9.07161E-6
1-11806221-A-C p.Thr46Pro missense AGTRAP 1 83220 1.20163E-5 41610 0 NA
1-11806221-A-G p.Thr46Ala missense AGTRAP 1 83220 1.20163E-5 41610 0 5.03525E-4
1-11806224-A-G p.Ile47Val missense AGTRAP 2 83212 2.4035E-5 41606 0 9.55475E-5
1-11806234-C-G p.Thr50Ser missense AGTRAP 216 83190 0.00259647 41595 0 0.00410697
1-11806235-CTG-C p.Ala52fs frameshift AGTRAP 3 83184 3.60646E-5 41592 0 3.1837E-5
1-11806245-T-A p.Cys54Ser missense AGTRAP 14 83134 1.68403E-4 41567 0 1.27372E-4
1-11806245-T-C p.Cys54Arg missense AGTRAP 1 83134 1.20288E-5 41567 0 3.18431E-5
1-11806254-C-T p.Arg57* stop_gained AGTRAP 1 83068 1.20383E-5 41534 0 2.84119E-5
1-11806255-G-A p.Arg57Gln missense AGTRAP 3 83062 3.61176E-5 41531 0 4.17728E-5
1-11806257-A-T p.Ser58Cys missense AGTRAP 6 83050 7.22456E-5 41525 0 5.03525E-4
1-11806265-G-A p.Ala60Ala synonymous AGTRAP 3 82968 3.61585E-5 41484 0 6.36862E-5
1-11806269-A-G p.Arg62Gly missense AGTRAP 2 82924 2.41185E-5 41462 0 NA
1-11806274-A-C p.Ala63Ala synonymous AGTRAP 1 82816 1.2075E-5 41408 0 2.33825E-5
1-11807499-G-A p.Gly22Asp missense+splice_region AGTRAP 8 81516 9.81402E-5 40758 0 5.04032E-4
1-11807503-C-T p.His68Tyr missense AGTRAP 1 81622 1.22516E-5 40811 0 7.9609E-6
1-11807505-T-G p.Ile24Ser missense AGTRAP 1 81674 1.22438E-5 40837 0 3.98026E-6
1-11807507-G-T p.Val25Leu missense AGTRAP 1 81702 1.22396E-5 40851 0 NA
1-11807515-A-G p.Arg72Gly missense AGTRAP 2 81756 2.4463E-5 40878 0 1.19382E-5
1-11807539-C-T p.His80Tyr missense AGTRAP 1 81818 1.22222E-5 40909 0 7.95697E-6
1-11807541-C-T p.Thr36Ile missense AGTRAP 2 81804 2.44487E-5 40902 0 1.07424E-4
1-11807546-C-G p.Leu38Val missense AGTRAP 1 81786 1.2227E-5 40893 0 1.98934E-5
1-11807557-C-T p.Arg86Cys missense AGTRAP 3 81596 3.67665E-5 40798 0 6.37471E-5
1-11807557-C-A p.Arg86Ser missense AGTRAP 1 81596 1.22555E-5 40798 0 1.64853E-5
1-11807558-G-A p.Val42Met missense AGTRAP 5 81616 6.12625E-5 40808 0 5.03525E-4
1-11807563-G-C p.Trp43Cys missense AGTRAP 1 81610 1.22534E-5 40805 0 8.24334E-6
1-11807576-C-T p.Arg48Trp missense AGTRAP 8 81308 9.83913E-5 40654 0 0.00125
1-11807577-G-A p.Arg48Gln missense AGTRAP 3 81300 3.69004E-5 40650 0 1.64935E-5
1-11807585-A-T p.Ile51Phe missense AGTRAP 3 81126 3.69795E-5 40563 0 3.18735E-5
1-11807587-C-T p.Arg96* stop_gained AGTRAP 1 80998 1.2346E-5 40499 0 5.03525E-4
1-11807588-G-A p.Asp52Asn missense AGTRAP 3 80900 3.70828E-5 40450 0 8.25219E-6
1-11807588-G-C p.Asp52His missense AGTRAP 1 80900 1.23609E-5 40450 0 NA
1-11807590-C-T p.Arg97Cys missense AGTRAP 3 80786 3.71351E-5 40393 0 7.96521E-6
1-11807600-A-G p.Met56Val missense+splice_region AGTRAP 134 80366 0.00166737 40183 0 0.00162472
1-11807602-G-GTTTCTGGGTGGCTTGCTGGCCACCATCTTCCT c.168_168+1insTTTCTGGGTGGCTTGCTGGCCACCATCTTCCT splice_donor AGTRAP 1 80244 1.2462E-5 40122 0 NA
1-11807608-C-T c.168+6C>T splice_region AGTRAP 1 79732 1.2542E-5 39866 0 8.27376E-6
1-11807609-C-G c.168+7C>G splice_region AGTRAP 51 79694 6.39948E-4 39847 1 0.00375
1-11808469-C-T c.169-3C>T splice_region AGTRAP 1 82064 1.21856E-5 41032 0 4.00449E-6
1-11808469-C-A c.169-3C>A splice_region AGTRAP 2 82064 2.43712E-5 41032 0 NA
1-11808474-T-C p.Ser102Pro missense+splice_region AGTRAP 1 82202 1.21652E-5 41101 0 NA
1-11808478-G-A p.Trp23* stop_gained AGTRAP 1 82258 1.21569E-5 41129 0 NA
1-11808483-C-T p.Leu105Phe missense AGTRAP 1 82216 1.21631E-5 41108 0 NA
1-11808487-C-T p.Ala106Val missense AGTRAP 2 82306 2.42996E-5 41153 0 NA
1-11808496-A-C p.Ile65Leu missense AGTRAP 1 82510 1.21197E-5 41255 0 NA
1-11808510-C-A p.Ser34* stop_gained AGTRAP 5 82784 6.03981E-5 41392 0 9.56267E-5
1-11808510-C-T p.Arg114Cys missense AGTRAP 1 82784 1.20796E-5 41392 0 8.28748E-6
1-11808511-G-A p.Val70Met missense AGTRAP 1 82800 1.20773E-5 41400 0 1.65741E-5
1-11808517-A-G p.Ile72Val missense AGTRAP 1 82846 1.20706E-5 41423 0 NA
1-11808521-G-A p.Ser73Asn missense AGTRAP 2 82850 2.414E-5 41425 0 3.98565E-6
1-11808533-C-T p.Pro77Leu missense AGTRAP 3 82826 3.62205E-5 41413 0 7.97537E-6
1-11808534-G-T p.Ala122Ser missense AGTRAP 22 82812 2.65662E-4 41406 0 0.00302115
1-11808534-G-A p.Ala122Thr missense AGTRAP 2 82814 2.41505E-5 41407 0 3.18613E-5
1-11808535-C-G p.Arg78Gly missense AGTRAP 1 82790 1.20788E-5 41395 0 1.99389E-5
1-11808535-C-T p.Arg78Trp missense AGTRAP 1 82790 1.20788E-5 41395 0 3.98778E-6
1-11808536-G-A p.Arg78Gln missense AGTRAP 4 82816 4.82998E-5 41408 0 3.18593E-5
1-11808546-C-T p.His126Tyr missense AGTRAP 2 82764 2.41651E-5 41382 0 1.59655E-5
1-11808550-G-T p.Asp83Tyr missense AGTRAP 2 82742 2.41715E-5 41371 0 NA
1-11808555-G-A p.Gly129Arg missense AGTRAP 1 82630 1.21021E-5 41315 0 3.9984E-6
1-11808559-C-T p.Arg86Cys missense AGTRAP 3 82616 3.63126E-5 41308 0 8.28926E-6
1-11808560-G-A p.Arg86His missense AGTRAP 5 82564 6.05591E-5 41282 0 2.23129E-4
1-11808562-T-G p.Phe87Val missense AGTRAP 1 82600 1.21065E-5 41300 0 NA
1-11808567-C-T p.Arg133Cys missense AGTRAP 1 82472 1.21253E-5 41236 0 6.37714E-5
1-11808568-G-C p.Val89Leu missense AGTRAP 2 82520 2.42365E-5 41260 0 3.18776E-5
1-11808568-G-A p.Val89Met missense AGTRAP 3 82520 3.63548E-5 41260 0 5.03525E-4
1-11808571-G-A p.Trp54* stop_gained AGTRAP 1 82542 1.2115E-5 41271 0 NA
1-11808574-A-T p.Met91Leu missense AGTRAP 1 82474 1.2125E-5 41237 0 4.00545E-6
1-11808576-G-T p.Met91Ile missense AGTRAP 1 82482 1.21239E-5 41241 0 3.18593E-5
1-11808585-C-T p.Gln139* stop_gained AGTRAP 2 82342 2.42889E-5 41171 0 6.37308E-5
1-11808593-T-C p.Leu97Pro missense AGTRAP 1 82080 1.21832E-5 41040 0 8.31103E-6
1-11808599-A-G p.Lys99Arg missense AGTRAP 2 82604 2.42119E-5 41302 0 6.37877E-5
1-11808602-C-T p.Pro100Leu missense AGTRAP 40 82624 4.84121E-4 41312 0 0.00352823
1-11808603-G-A p.Ala145Thr missense AGTRAP 3 82574 3.63311E-5 41287 0 3.18735E-5
1-11808615-CT-C p.Phe105fs frameshift AGTRAP 9 82474 1.09125E-4 41237 0 2.54826E-4
1-11808618-C-T p.Arg150Cys missense AGTRAP 1 82374 1.21398E-5 41187 0 6.37024E-5
1-11808640-C-T p.Arg113Cys missense AGTRAP 1 81234 1.23101E-5 40617 0 1.08627E-4
1-11808642-C-T p.Arg158Trp missense AGTRAP 3 81042 3.70178E-5 40521 0 3.34616E-5
1-11808643-G-A p.Gly114Arg missense AGTRAP 1 81072 1.23347E-5 40536 0 1.21795E-5
1-11808647-G-A c.343+1G>A splice_donor AGTRAP 3 80822 3.71186E-5 40411 0 1.59378E-4
1-11808648-T-C c.343+2T>C splice_donor AGTRAP 2 80694 2.4785E-5 40347 0 3.66279E-5
1-11808662-A-C p.His120Pro missense AGTRAP 1 79868 1.25207E-5 39934 0 NA
1-11808664-A-G p.Thr121Ala missense AGTRAP 1 79748 1.25395E-5 39874 0 3.19326E-5
1-11810154-G-A p.Asp129Asn missense AGTRAP 1 82936 1.20575E-5 41468 0 8.40477E-6
1-11810157-C-T p.Arg130Cys missense AGTRAP 13 82964 1.56694E-4 41482 0 6.25E-4
1-11810157-C-A p.Arg130Ser missense AGTRAP 1 82964 1.20534E-5 41482 0 8.39166E-5
1-11810158-G-A p.Arg130His missense AGTRAP 4 82958 4.82172E-5 41479 0 1.6765E-5
1-11810163-G-A p.Ala132Thr missense AGTRAP 1 83042 1.20421E-5 41521 0 NA
1-11810173-C-T p.Arg100* stop_gained AGTRAP 1 83072 1.20378E-5 41536 0 1.19568E-5
1-11810174-G-A p.Arg100Gln missense AGTRAP 2 83070 2.40761E-5 41535 0 2.3515E-4
1-11810191-C-T p.Ala141Val missense AGTRAP 6 83060 7.22369E-5 41530 0 5.03525E-4
1-11810192-G-A p.Arg106His missense AGTRAP 1 83052 1.20406E-5 41526 0 2.50962E-5
1-11810193-C-CCCGCAGAT p.Phe146fs frameshift AGTRAP 1 83084 1.2036E-5 41542 0 8.3696E-6
1-11810196-G-A p.Ala143Thr missense AGTRAP 3 83066 3.61159E-5 41533 0 6.37674E-5
1-11810197-C-T p.Gln108* stop_gained AGTRAP 11 83072 1.32415E-4 41536 0 1.91388E-4
1-11810211-G-T p.Val148Phe missense AGTRAP 1 83038 1.20427E-5 41519 0 3.99342E-6
1-11810219-G-A p.Arg115Lys missense AGTRAP 2 82970 2.41051E-5 41485 0 1.99815E-5
1-11810230-A-G p.Gln154Arg missense AGTRAP 1 82870 1.20671E-5 41435 0 4.00696E-6
1-11810238-C-T p.Arg157* stop_gained AGTRAP 1 82798 1.20776E-5 41399 0 0.00125
1-11810259-C-G p.His128Gln missense AGTRAP 2 82580 2.42189E-5 41290 0 NA
1-11810259-C-A p.His128Gln missense AGTRAP 1 82580 1.21095E-5 41290 0 NA
1-11810264-C-T p.Ala130Val missense AGTRAP 28 82486 3.39452E-4 41243 0 3.5081E-4
1-11810265-G-A p.Ala130Ala synonymous AGTRAP 1 82456 1.21277E-5 41228 0 6.38488E-5
1-11810268-C-T p.Pro131Pro synonymous AGTRAP 5 82446 6.06458E-5 41223 0 1.91534E-4
1-11810269-G-A p.Gly132Ser missense AGTRAP 4 82426 4.85284E-5 41213 0 3.3536E-5
1-11810270-G-GCCCTGCC p.Gly136fs frameshift AGTRAP 193 82394 0.0023424 41197 0 0.00331548
1-11810275-G-A p.Ala134Thr missense AGTRAP 2 82312 2.42978E-5 41156 0 2.38698E-5
1-11810277-C-G p.Ala134Ala synonymous AGTRAP 1 82252 1.21578E-5 41126 0 4.26927E-6
1-11810279-C-T p.Pro135Leu missense AGTRAP 2 82196 2.43321E-5 41098 0 1.23787E-5
1-11810280-G-A p.Pro135Pro synonymous AGTRAP 5 82146 6.08672E-5 41073 0 2.64597E-4
1-11810291-G-A p.Arg139His missense AGTRAP 3 81750 3.66972E-5 40875 0 7.65392E-5
1-11810302-G-T p.Val143Phe missense AGTRAP 2 81250 2.46154E-5 40625 0 NA
1-11810304-C-T p.Val143Val synonymous AGTRAP 1 81064 1.23359E-5 40532 0 1.95595E-5
1-11810305-G-A p.Val144Ile missense AGTRAP 4 80976 4.93974E-5 40488 0 4.00336E-5
1-11810311-G-C p.Gly146Arg missense AGTRAP 1 80502 1.24221E-5 40251 0 NA
1-11810318-T-A p.Leu148His missense AGTRAP 1 79822 1.25279E-5 39911 0 NA
1-11810322-G-C p.Leu149Leu synonymous AGTRAP 1 79418 1.25916E-5 39709 0 NA
1-11810340-C-T p.Thr155Thr synonymous AGTRAP 1 77406 1.29189E-5 38703 0 NA
1-11810373-C-T c.*257C>T splice_region AGTRAP 43 73310 5.8655E-4 36655 0 8.6053E-4
1-11810633-C-G c.*517C>G splice_region AGTRAP 1 9494 1.0533E-4 4747 0 NA
1-11810765-T-A c.*604T>A splice_region AGTRAP 2924 2954 0.989844 1477 1448 0.972888