Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
7-16832554-T-C p.Lys169Arg missense AGR2 1 83294 1.20057E-5 41647 0 3.18634E-5
7-16832560-G-A p.Ala167Val missense AGR2 1 83308 1.20036E-5 41654 0 8.23954E-6
7-16832574-G-T p.Asp162Glu missense AGR2 3 83300 3.60144E-5 41650 0 3.18979E-5
7-16832584-A-G c.479-3T>C splice_region AGR2 2 83304 2.40085E-5 41652 0 8.24076E-6
7-16832585-A-G c.479-4T>C splice_region AGR2 1 83312 1.20031E-5 41656 0 1.19301E-5
7-16832586-T-C c.479-5A>G splice_region AGR2 1 83304 1.20042E-5 41652 0 7.95317E-6
7-16832588-G-C c.479-7C>G splice_region AGR2 1 83312 1.20031E-5 41656 0 NA
7-16834297-A-AG c.*173dupC splice_region AGR2 2 38564 5.18618E-5 19282 0 3.1839E-5
7-16834490-C-G p.Arg183Thr missense AGR2 7 81554 8.58327E-5 40777 0 3.18512E-4
7-16834505-C-T p.Cys178Tyr missense AGR2 27 82180 3.28547E-4 41090 0 2.90269E-4
7-16834512-A-T p.Tyr176Asn missense AGR2 2 82424 2.42648E-5 41212 0 1.20175E-5
7-16834514-A-G p.Leu175Pro missense AGR2 1 82512 1.21194E-5 41256 0 NA
7-16834519-T-G p.Glu173Asp missense AGR2 1 82616 1.21042E-5 41308 0 NA
7-16834523-A-G p.Val172Ala missense AGR2 93 82700 0.00112455 41350 0 0.00236163
7-16834529-G-T p.Pro170Gln missense AGR2 5 82804 6.03836E-5 41402 0 NA
7-16834539-C-T p.Gly167Arg missense AGR2 2 82944 2.41127E-5 41472 0 1.59203E-5
7-16834540-G-A p.Phe166Phe synonymous AGR2 1 82988 1.20499E-5 41494 0 1.69245E-5
7-16834543-T-A p.Gln165His missense AGR2 1 83018 1.20456E-5 41509 0 5.04151E-5
7-16834543-T-C p.Gln165Gln synonymous AGR2 1 83018 1.20456E-5 41509 0 3.97842E-6
7-16834548-G-C p.Leu164Val missense AGR2 1 83070 1.2038E-5 41535 0 NA
7-16834551-C-A p.Asp163Tyr missense AGR2 71982 81972 0.878129 40986 31647 0.915
7-16834553-CACTT-C p.Lys161fs frameshift AGR2 2 83098 2.4068E-5 41549 0 8.24144E-6
7-16834565-G-A p.Ala158Val missense AGR2 1 83188 1.2021E-5 41594 0 NA
7-16834575-C-T p.Ala155Thr missense AGR2 1 83244 1.20129E-5 41622 0 NA
7-16834591-G-A p.Leu149Leu synonymous AGR2 1 83276 1.20083E-5 41638 0 8.23981E-6
7-16834596-G-A p.Arg148Cys missense AGR2 3 83270 3.60274E-5 41635 0 NA
7-16834597-A-G p.Asn147Asn synonymous AGR2 37423 82862 0.45163 41431 9024 0.55375
7-16834619-T-C p.Asp140Gly missense AGR2 2 83284 2.40142E-5 41642 0 NA
7-16834630-T-G p.Thr136Thr synonymous AGR2 1 83262 1.20103E-5 41631 0 NA
7-16834639-T-C p.Pro133Pro synonymous AGR2 1 83266 1.20097E-5 41633 0 NA
7-16837248-C-T c.394+7G>A splice_region AGR2 4 83348 4.79916E-5 41674 0 7.16932E-5
7-16837249-G-A c.394+6C>T splice_region AGR2 9 83350 1.07978E-4 41675 0 9.91867E-5
7-16837257-A-G p.Val131Ala missense+splice_region AGR2 1 83358 1.19964E-5 41679 0 NA
7-16837268-C-G p.Arg127Ser missense AGR2 1 83362 1.19959E-5 41681 0 1.1938E-5
7-16837272-G-T p.Pro126His missense AGR2 1 83352 1.19973E-5 41676 0 3.18532E-5
7-16837305-T-C p.Asp115Gly missense AGR2 3 83308 3.60109E-5 41654 0 NA
7-16839367-C-T c.330+1G>A splice_donor AGR2 2 82914 2.41214E-5 41457 0 4.01059E-6
7-16839381-A-T p.Leu106His missense AGR2 1 82954 1.20549E-5 41477 0 NA
7-16839394-C-T p.Glu102Lys missense AGR2 2 82918 2.41202E-5 41459 0 8.44267E-6
7-16839400-A-G p.Leu100Leu synonymous AGR2 1 82902 1.20624E-5 41451 0 NA
7-16839411-T-A p.Glu96Val missense AGR2 2 82874 2.4133E-5 41437 0 NA
7-16839418-T-G p.Asn94His missense AGR2 1 82826 1.20735E-5 41413 0 1.19783E-5
7-16839423-G-C p.Ala92Gly missense AGR2 5 82788 6.03952E-5 41394 0 3.18634E-4
7-16839428-C-T p.Val90Val synonymous AGR2 1 82744 1.20855E-5 41372 0 3.18593E-5
7-16839429-A-G p.Val90Ala missense AGR2 2 82738 2.41727E-5 41369 0 2.80464E-5
7-16839430-C-T p.Val90Met missense AGR2 15 82714 1.81348E-4 41357 0 1.00154E-4
7-16839449-A-G c.257-8T>C splice_region AGR2 3 82320 3.64431E-5 41160 0 2.07671E-5
7-16840773-A-C c.256+2T>G splice_donor AGR2 1 82820 1.20744E-5 41410 0 8.3167E-6
7-16840780-CTGTG-C p.His83fs frameshift AGR2 1 82884 1.20651E-5 41442 0 NA
7-16840782-G-A p.His83His synonymous AGR2 1 82900 1.20627E-5 41450 0 NA
7-16840805-G-A p.His76Tyr missense AGR2 2 82978 2.41028E-5 41489 0 NA
7-16840815-C-G p.Leu72Phe missense AGR2 1 82998 1.20485E-5 41499 0 3.98432E-6
7-16840818-G-T p.Pro71Pro synonymous AGR2 1 83010 1.20467E-5 41505 0 NA
7-16840938-C-G c.203+6G>C splice_region AGR2 29 82850 3.5003E-4 41425 0 6.25E-4
7-16840966-C-G p.Ala61Pro missense AGR2 1 82676 1.20954E-5 41338 0 NA
7-16840968-T-G p.Glu60Ala missense AGR2 9 82658 1.08882E-4 41329 0 0.00375
7-16840972-C-A p.Glu59* stop_gained AGR2 2 82614 2.4209E-5 41307 0 3.99517E-6
7-16840976-T-C p.Thr57Thr synonymous AGR2 5 82550 6.05694E-5 41275 0 5.03525E-4
7-16840981-G-A p.Gln56* stop_gained AGR2 1 82474 1.2125E-5 41237 0 NA
7-16840985-C-T p.Trp54* stop_gained AGR2 1 82424 1.21324E-5 41212 0 3.99789E-6
7-16840994-T-C p.Gln51Gln synonymous AGR2 3 82282 3.646E-5 41141 0 NA
7-16840994-T-G p.Gln51His missense AGR2 1 82282 1.21533E-5 41141 0 NA
7-16841006-A-G p.Gly47Gly splice_region+synonymous AGR2 6 82110 7.30727E-5 41055 0 3.18451E-5
7-16841014-T-C c.140-7A>G splice_region AGR2 1 81916 1.22076E-5 40958 0 4.0224E-6
7-16841014-T-A c.140-7A>T splice_region AGR2 1 81916 1.22076E-5 40958 0 4.0224E-6
7-16841293-G-A p.Thr43Ile missense AGR2 1 83082 1.20363E-5 41541 0 1.64897E-5
7-16841311-C-T p.Arg37Gln missense AGR2 2 83034 2.40865E-5 41517 0 6.25E-4
7-16841311-C-A p.Arg37Leu missense AGR2 1 83032 1.20435E-5 41516 0 8.24661E-6
7-16841312-G-T p.Arg37Arg synonymous AGR2 2 83022 2.409E-5 41511 0 3.98115E-6
7-16841312-G-A p.Arg37* stop_gained AGR2 3 83022 3.6135E-5 41511 0 8.24688E-6
7-16841313-A-G p.Ser36Ser synonymous AGR2 1 83014 1.20462E-5 41507 0 NA
7-16841315-A-T p.Ser36Thr missense AGR2 1 83004 1.20476E-5 41502 0 NA
7-16841315-A-G p.Ser36Pro missense AGR2 1 83004 1.20476E-5 41502 0 NA
7-16841315-A-AGCCCTTTGT p.Asp35_Ser36insThrLysGly conservative_inframe_insertion AGR2 1 83004 1.20476E-5 41502 0 3.29875E-5
7-16841324-T-TGTCC p.Thr33fs frameshift AGR2 1 82946 1.2056E-5 41473 0 8.24824E-6
7-16841328-CT-C p.Lys31fs frameshift AGR2 1 82916 1.20604E-5 41458 0 3.98184E-6
7-16841338-C-G p.Gly28Ala missense AGR2 1 82872 1.20668E-5 41436 0 NA
7-16841346-G-C p.Val25Val synonymous AGR2 1 82846 1.20706E-5 41423 0 3.19224E-5
7-16841355-A-G p.Asp22Asp synonymous AGR2 3 82878 3.61978E-5 41439 0 3.98337E-6
7-16841378-G-C p.Leu15Val missense AGR2 1 82948 1.20557E-5 41474 0 NA
7-16841396-A-G p.Phe9Leu missense AGR2 8 82990 9.63972E-5 41495 0 3.19183E-5
7-16841396-A-T p.Phe9Ile missense AGR2 2 82990 2.40993E-5 41495 0 NA
7-16841398-G-A p.Ala8Val missense AGR2 1 82988 1.20499E-5 41494 0 4.01971E-6
7-16841403-C-A p.Val6Val synonymous AGR2 1 82992 1.20494E-5 41496 0 3.19305E-5
7-16841410-A-G p.Ile4Thr missense AGR2 28 82982 3.37423E-4 41491 0 5.03525E-4
7-16841417-C-G p.Glu2Gln missense AGR2 1 82960 1.2054E-5 41480 0 8.38687E-6
7-16841424-A-C p.Val19Val synonymous AGR2 2 82912 2.4122E-5 41456 0 NA
7-16841431-G-A c.-7-4C>T splice_region AGR2 1 82836 1.2072E-5 41418 0 1.59908E-4
7-16844681-T-C c.-130A>G 5_prime_UTR_premature_start_codon_gain AGR2 633 2936 0.215599 1468 70 0.179218
7-16872876-A-G c.-99+4T>C splice_region AGR2 1 8026 1.24595E-4 4013 0 NA
7-16872893-G-C p.Gln14Glu missense AGR2 4 8044 4.97265E-4 4022 0 0.00127389
7-16872913-G-A p.Ala7Val missense AGR2 4680 7876 0.59421 3938 1467 0.588432
7-16872915-A-C p.Asp6Glu missense AGR2 1 8050 1.24224E-4 4025 0 9.32314E-5
7-16872918-A-G p.Thr5Thr synonymous AGR2 1 8050 1.24224E-4 4025 0 NA
7-16872919-G-T p.Thr5Asn missense AGR2 1 8048 1.24254E-4 4024 0 9.3301E-5
7-16872921-G-A p.Tyr4Tyr synonymous AGR2 3 8046 3.72856E-4 4023 0 6.37024E-5
7-16872952-G-A c.-171C>T 5_prime_UTR_premature_start_codon_gain AGR2 1 8018 1.24719E-4 4009 0 1.58541E-5