Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
17-15848294-C-T c.-269C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 1 10472 9.54927E-5 5236 0 9.63701E-5
17-15848469-C-T c.-94C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 2 54502 3.66959E-5 27251 0 NA
17-15848517-C-T c.-46C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 2 70760 2.82646E-5 35380 0 1.26295E-4
17-15848542-C-T c.-21C>T 5_prime_UTR_premature_start_codon_gain ADORA2B 4 75246 5.3159E-5 37623 0 0.00126743
17-15848585-C-A p.Ala8Glu missense ADORA2B 6 79620 7.5358E-5 39810 0 7.10985E-4
17-15848586-G-A p.Ala8Ala synonymous ADORA2B 4 79748 5.0158E-5 39874 0 6.38733E-5
17-15848588-T-C p.Leu9Pro missense ADORA2B 17 79948 2.12638E-4 39974 0 3.05904E-4
17-15848592-C-T p.Tyr10Tyr synonymous ADORA2B 1 80110 1.24828E-5 40055 0 7.14102E-6
17-15848598-G-T p.Ala12Ala synonymous ADORA2B 971 80278 0.0120955 40139 29 0.0378803
17-15848608-G-C p.Val16Leu missense ADORA2B 2 80758 2.47653E-5 40379 0 NA
17-15848626-G-C p.Val22Leu missense ADORA2B 2 81092 2.46633E-5 40546 0 3.18878E-5
17-15848631-G-T p.Ala23Ala synonymous ADORA2B 3 81110 3.69868E-5 40555 0 NA
17-15848633-G-A p.Gly24Asp missense ADORA2B 1 81136 1.2325E-5 40568 0 9.36198E-6
17-15848637-C-T p.Asn25Asn synonymous ADORA2B 984 81178 0.0121215 40589 35 0.0221081
17-15848650-G-A p.Ala30Thr missense ADORA2B 1 81382 1.22877E-5 40691 0 6.37836E-5
17-15848651-C-T p.Ala30Val missense ADORA2B 1 81380 1.2288E-5 40690 0 3.38021E-5
17-15848666-C-T p.Ala35Val missense ADORA2B 254 81638 0.0031113 40819 3 0.00590036
17-15848666-C-G p.Ala35Gly missense ADORA2B 1 81644 1.22483E-5 40822 0 1.15703E-5
17-15848671-A-T p.Thr37Ser missense ADORA2B 4 81832 4.88806E-5 40916 0 2.12707E-4
17-15848672-C-T p.Thr37Ile missense ADORA2B 5 81876 6.1068E-5 40938 0 NA
17-15848673-T-C p.Thr37Thr synonymous ADORA2B 106 81874 0.00129467 40937 1 0.00280612
17-15848682-G-A p.Thr40Thr synonymous ADORA2B 5 81882 6.10635E-5 40941 0 NA
17-15848684-C-T p.Pro41Leu missense ADORA2B 1 81946 1.22032E-5 40973 0 NA
17-15848690-A-C p.Asn43Thr missense ADORA2B 31 82082 3.77671E-4 41041 0 6.25E-4
17-15848690-A-G p.Asn43Ser missense ADORA2B 1 82084 1.21826E-5 41042 0 9.05945E-6
17-15848702-T-G p.Val47Gly missense ADORA2B 1 82150 1.21729E-5 41075 0 2.62646E-5
17-15848715-G-A p.Ala51Ala synonymous ADORA2B 1 82048 1.2188E-5 41024 0 NA
17-15848730-G-A p.Val56Val synonymous ADORA2B 1 82052 1.21874E-5 41026 0 6.37471E-5
17-15848747-C-T p.Pro62Leu missense ADORA2B 1 82202 1.21652E-5 41101 0 8.49964E-6
17-15848748-C-T p.Pro62Pro synonymous ADORA2B 1 82208 1.21643E-5 41104 0 3.99326E-6
17-15848759-C-T p.Thr66Ile missense ADORA2B 4 82180 4.86736E-5 41090 0 3.18552E-5
17-15848767-C-CT p.Phe71fs frameshift ADORA2B 1 82116 1.21779E-5 41058 0 NA
17-15848777-G-A p.Cys72Tyr missense ADORA2B 6 82044 7.31315E-5 41022 0 0.0020141
17-15848780-C-T p.Thr73Ile missense ADORA2B 2 82066 2.43706E-5 41033 0 8.0116E-6
17-15848799-C-G p.Leu79Leu synonymous ADORA2B 12 82002 1.46338E-4 41001 0 9.65577E-5
17-15848802-C-T p.Phe80Phe synonymous ADORA2B 4 81966 4.88007E-5 40983 0 1.91107E-4
17-15848805-C-T p.Leu81Leu synonymous ADORA2B 1 81984 1.21975E-5 40992 0 6.25E-4
17-15848815-G-A p.Val85Met missense ADORA2B 1 81876 1.22136E-5 40938 0 3.18735E-5
17-15848829-G-A p.Thr89Thr synonymous ADORA2B 1 81694 1.22408E-5 40847 0 NA
17-15848830-C-T p.Gln90* stop_gained ADORA2B 2 81690 2.44828E-5 40845 0 NA
17-15848832-G-C p.Gln90His missense ADORA2B 11 81682 1.34669E-4 40841 0 7.05078E-5
17-15848839-A-G p.Ile93Val missense ADORA2B 1 81578 1.22582E-5 40789 0 4.19681E-6
17-15848848-C-T p.Leu96Phe missense ADORA2B 30 81276 3.69113E-4 40638 0 6.90739E-4
17-15848856-C-T p.Ala98Ala synonymous ADORA2B 1 80820 1.23732E-5 40410 0 1.36262E-5
17-15848874-C-G p.Tyr104* stop_gained ADORA2B 2 79338 2.52086E-5 39669 0 3.75968E-5
17-15848898-G-T c.335+1G>T splice_donor ADORA2B 1 75434 1.32566E-5 37717 0 NA
17-15878003-T-C p.Leu116Leu synonymous ADORA2B 1 83388 1.19921E-5 41694 0 8.33444E-6
17-15878011-G-A p.Thr118Thr synonymous ADORA2B 140 83384 0.00167898 41692 0 0.00446172
17-15878012-G-C p.Gly119Arg missense ADORA2B 2 83392 2.39831E-5 41696 0 3.18492E-5
17-15878018-C-T p.Arg121* stop_gained ADORA2B 3 83402 3.59704E-5 41701 0 6.60044E-5
17-15878019-G-A p.Arg121Gln missense ADORA2B 2 83400 2.39808E-5 41700 0 1.64973E-5
17-15878034-T-C p.Ile126Thr missense ADORA2B 3 83404 3.59695E-5 41702 0 2.47219E-5
17-15878038-T-A p.Ala127Ala synonymous ADORA2B 1 83408 1.19893E-5 41704 0 8.24022E-6
17-15878053-T-C p.Leu132Leu synonymous ADORA2B 1 83410 1.1989E-5 41705 0 NA
17-15878063-A-T p.Ile136Phe missense ADORA2B 1 83410 1.1989E-5 41705 0 8.23669E-6
17-15878066-G-A p.Gly137Arg missense ADORA2B 2 83412 2.39774E-5 41706 0 3.1841E-5
17-15878069-T-C p.Leu138Leu synonymous ADORA2B 1 83410 1.1989E-5 41705 0 NA
17-15878087-TG-T p.Trp144fs frameshift ADORA2B 2 83404 2.39797E-5 41702 0 1.59055E-5
17-15878098-AGAC-A p.Asp148del conservative_inframe_deletion ADORA2B 1 83406 1.19895E-5 41703 0 NA
17-15878099-G-C p.Asp148His missense ADORA2B 2 83406 2.39791E-5 41703 0 NA
17-15878107-C-T p.Ala150Ala synonymous ADORA2B 1 83410 1.1989E-5 41705 0 NA
17-15878109-CCAA-C p.Asn153del conservative_inframe_deletion ADORA2B 3427 83374 0.0411039 41687 87 0.051863
17-15878112-A-C p.Asn152Thr missense ADORA2B 4 83220 4.80654E-5 41610 0 8.42517E-6
17-15878120-A-C p.Thr155Pro missense ADORA2B 1 83408 1.19893E-5 41704 0 NA
17-15878122-A-G p.Thr155Thr synonymous ADORA2B 1 83408 1.19893E-5 41704 0 NA
17-15878142-C-T p.Thr162Met missense ADORA2B 3 83408 3.59678E-5 41704 0 5.03525E-4
17-15878143-G-A p.Thr162Thr synonymous ADORA2B 1 83408 1.19893E-5 41704 0 2.47113E-5
17-15878146-T-C p.Asn163Asn synonymous ADORA2B 1 83406 1.19895E-5 41703 0 NA
17-15878155-C-T p.Cys166Cys synonymous ADORA2B 1 83408 1.19893E-5 41704 0 NA
17-15878167-G-C p.Lys170Asn missense ADORA2B 3 83404 3.59695E-5 41702 0 3.18492E-5
17-15878172-T-C p.Leu172Pro missense ADORA2B 1 83408 1.19893E-5 41704 0 NA
17-15878191-C-T p.Pro178Pro synonymous ADORA2B 1 83404 1.19898E-5 41702 0 8.23764E-6
17-15878193-T-C p.Met179Thr missense ADORA2B 1 83400 1.19904E-5 41700 0 NA
17-15878195-AG-A p.Ser180fs frameshift ADORA2B 1 83396 1.1991E-5 41698 0 NA
17-15878198-T-C p.Tyr181His missense ADORA2B 1 83400 1.19904E-5 41700 0 NA
17-15878200-CATGGTAT-C p.Met182fs frameshift ADORA2B 1 83394 1.19913E-5 41697 0 NA
17-15878201-A-G p.Met182Val missense ADORA2B 1 83400 1.19904E-5 41700 0 2.47121E-5
17-15878206-A-G p.Val183Val synonymous ADORA2B 1 83394 1.19913E-5 41697 0 1.27437E-4
17-15878214-A-G p.Asn186Ser missense ADORA2B 1 83400 1.19904E-5 41700 0 3.29495E-5
17-15878223-G-T p.Gly189Val missense ADORA2B 1 83388 1.19921E-5 41694 0 NA
17-15878223-GGT-G p.Val191fs frameshift ADORA2B 1 83388 1.19921E-5 41694 0 NA
17-15878235-C-A p.Pro193His missense ADORA2B 1 83386 1.19924E-5 41693 0 8.23723E-6
17-15878243-C-CT p.Ile197fs frameshift ADORA2B 1 83384 1.19927E-5 41692 0 NA
17-15878244-T-C p.Leu196Pro missense ADORA2B 1 83382 1.1993E-5 41691 0 NA
17-15878247-T-C p.Ile197Thr missense ADORA2B 1 83376 1.19939E-5 41688 0 3.18471E-5
17-15878256-T-C p.Val200Ala missense ADORA2B 1 83382 1.1993E-5 41691 0 NA
17-15878266-T-G p.Ile203Met missense ADORA2B 27 83380 3.23819E-4 41690 0 0.0020141
17-15878297-C-T p.Gln214* stop_gained ADORA2B 7 83344 8.39893E-5 41672 0 6.37024E-5
17-15878300-C-T p.Arg215Cys missense ADORA2B 1 83332 1.20002E-5 41666 0 7.95425E-6
17-15878300-C-G p.Arg215Gly missense ADORA2B 2 83332 2.40004E-5 41666 0 3.97712E-6
17-15878311-G-A p.Leu218Leu synonymous ADORA2B 1 83332 1.20002E-5 41666 0 NA
17-15878318-C-T p.His221Tyr missense ADORA2B 1 83312 1.20031E-5 41656 0 3.97687E-6
17-15878337-A-G p.Gln227Arg missense ADORA2B 1 83294 1.20057E-5 41647 0 NA
17-15878340-G-C p.Arg228Pro missense ADORA2B 1 83304 1.20042E-5 41652 0 NA
17-15878362-A-C p.Ser235Ser synonymous ADORA2B 1 83298 1.20051E-5 41649 0 2.38597E-4
17-15878377-G-A p.Val240Val synonymous ADORA2B 126 83302 0.00151257 41651 0 0.00340938
17-15878389-C-T p.Ala244Ala synonymous ADORA2B 1 83306 1.20039E-5 41653 0 6.25E-4
17-15878397-G-T p.Trp247Leu missense ADORA2B 1 83312 1.20031E-5 41656 0 NA
17-15878409-A-G p.His251Arg missense ADORA2B 2 83306 2.40079E-5 41653 0 1.19297E-5
17-15878419-C-T p.Asn254Asn synonymous ADORA2B 1 83292 1.2006E-5 41646 0 NA
17-15878422-T-C p.Cys255Cys synonymous ADORA2B 2 83274 2.40171E-5 41637 0 7.15877E-5
17-15878424-T-C p.Val256Ala missense ADORA2B 2 83268 2.40188E-5 41634 0 3.97709E-6
17-15878437-G-T p.Gln260His missense ADORA2B 1 83242 1.20132E-5 41621 0 8.24919E-6
17-15878443-T-C p.Ala262Ala synonymous ADORA2B 331 83200 0.00397837 41600 8 0.00821342
17-15878449-T-C p.Gly264Gly synonymous ADORA2B 2 83178 2.40448E-5 41589 0 NA
17-15878451-A-C p.Lys265Thr missense ADORA2B 2 83202 2.40379E-5 41601 0 3.97795E-6
17-15878456-A-G p.Lys267Glu missense ADORA2B 1 83178 1.20224E-5 41589 0 8.2575E-6
17-15878479-G-T p.Met274Ile missense ADORA2B 1 83064 1.20389E-5 41532 0 NA
17-15878484-T-G p.Ile276Ser missense ADORA2B 1 83046 1.20415E-5 41523 0 7.96242E-6
17-15878518-C-T p.Pro287Pro synonymous ADORA2B 1 82592 1.21077E-5 41296 0 NA
17-15878531-T-C p.Tyr292His missense ADORA2B 2 82318 2.4296E-5 41159 0 NA
17-15878534-C-T p.Arg293Trp missense ADORA2B 11 82248 1.33742E-4 41124 0 2.2293E-4
17-15878541-G-A p.Arg295Gln missense ADORA2B 1 82122 1.2177E-5 41061 0 1.16031E-4
17-15878541-G-T p.Arg295Leu missense ADORA2B 1 82122 1.2177E-5 41061 0 NA
17-15878543-G-C p.Asp296His missense ADORA2B 3 82098 3.65417E-5 41049 0 8.30592E-6
17-15878544-A-G p.Asp296Gly missense ADORA2B 3 82060 3.65586E-5 41030 0 1.57839E-4
17-15878550-G-A p.Arg298His missense ADORA2B 3 81966 3.66005E-5 40983 0 5.03525E-4
17-15878556-C-CT p.His302fs frameshift ADORA2B 3 81956 3.6605E-5 40978 0 3.18451E-5
17-15878557-T-G p.Thr300Thr synonymous ADORA2B 20 81962 2.44016E-4 40981 0 2.07786E-4
17-15878578-G-GT p.Tyr308fs frameshift ADORA2B 1 82076 1.21838E-5 41038 0 NA
17-15878578-GTATC-G p.Tyr308fs frameshift ADORA2B 1 82076 1.21838E-5 41038 0 NA
17-15878580-A-G p.Tyr308Cys missense ADORA2B 1 82166 1.21705E-5 41083 0 3.1835E-5
17-15878585-C-T p.Leu310Phe missense ADORA2B 1 82274 1.21545E-5 41137 0 3.18512E-5
17-15878587-C-G p.Leu310Leu synonymous ADORA2B 1 82316 1.21483E-5 41158 0 NA
17-15878591-C-A p.Gln312Lys missense ADORA2B 1 82362 1.21415E-5 41181 0 4.00259E-6
17-15878601-T-A p.Val315Asp missense ADORA2B 1 82528 1.21171E-5 41264 0 NA
17-15878625-G-A p.Gly323Glu missense ADORA2B 1 82866 1.20677E-5 41433 0 4.00647E-6
17-15878631-A-G p.Gln325Arg missense ADORA2B 12 82920 1.44718E-4 41460 0 5.03525E-4
17-15878641-C-T p.Leu328Leu synonymous ADORA2B 1 82978 1.20514E-5 41489 0 4.02253E-5
17-15878642-G-A p.Gly329Ser missense ADORA2B 1 82996 1.20488E-5 41498 0 9.55536E-5
17-15878648-G-C p.Gly331Arg missense ADORA2B 2 83000 2.40964E-5 41500 0 NA
17-15878653-A-G p.Leu332Leu synonymous ADORA2B 1 82990 1.20496E-5 41495 0 8.44295E-6