Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
16-77281880-C-T p.Trp59* stop_gained ADAMTS18 1 8952 1.11707E-4 4476 0 1.25296E-4
16-77281898-C-A p.Arg53Ser missense ADAMTS18 1 8966 1.11532E-4 4483 0 3.18492E-5
16-77281898-C-T p.Arg53Arg synonymous ADAMTS18 1 8966 1.11532E-4 4483 0 NA
16-77281905-C-T p.Gly51Glu missense ADAMTS18 262 8960 0.0292411 4480 7 0.0404346
16-77281913-A-G p.His48His synonymous ADAMTS18 1 8988 1.11259E-4 4494 0 7.81592E-6
16-77281925-A-G p.Pro44Pro synonymous ADAMTS18 13 8986 0.00144669 4493 0 0.00286533
16-77281927-GA-G p.Pro44fs frameshift ADAMTS18 1 8986 1.11284E-4 4493 0 3.1837E-5
16-77316025-T-C c.*1828A>G splice_region ADAMTS18 11 2736 0.00402047 1368 0 0.0109452
16-77317856-G-A p.Ile1221Ile synonymous ADAMTS18 2 82518 2.42371E-5 41259 0 NA
16-77317863-C-G p.Arg1219Thr missense ADAMTS18 1 82610 1.21051E-5 41305 0 NA
16-77317866-G-C p.Thr1218Arg missense ADAMTS18 1 82654 1.20986E-5 41327 0 NA
16-77317883-T-C p.Gln1212Gln synonymous ADAMTS18 6 82764 7.24953E-5 41382 0 1.91241E-4
16-77317884-T-G p.Gln1212Pro missense ADAMTS18 1 82776 1.20808E-5 41388 0 NA
16-77317885-G-A p.Gln1212* stop_gained ADAMTS18 1 82766 1.20823E-5 41383 0 NA
16-77317889-T-G p.Gly1210Gly synonymous ADAMTS18 1 82762 1.20828E-5 41381 0 NA
16-77317891-C-T p.Gly1210Arg missense ADAMTS18 48 82746 5.80088E-4 41373 0 0.00130623
16-77317892-G-A p.Tyr1209Tyr synonymous ADAMTS18 3 82738 3.6259E-5 41369 0 1.07116E-4
16-77317894-A-C p.Tyr1209Asp missense ADAMTS18 2 82760 2.41663E-5 41380 0 NA
16-77317911-A-G p.Val1203Ala missense ADAMTS18 1 82724 1.20884E-5 41362 0 NA
16-77317920-T-G p.Gln1200Pro missense ADAMTS18 1 82656 1.20983E-5 41328 0 3.98349E-6
16-77317923-G-A p.Pro1199Leu missense ADAMTS18 1 82604 1.2106E-5 41302 0 NA
16-77317924-G-C p.Pro1199Ala missense ADAMTS18 3 82596 3.63214E-5 41298 0 1.19516E-5
16-77317927-C-T p.Val1198Ile missense ADAMTS18 2 82564 2.42236E-5 41282 0 5.03525E-4
16-77317935-C-T p.Cys1195Tyr missense ADAMTS18 1 82466 1.21262E-5 41233 0 NA
16-77317937-C-A p.Trp1194Cys missense ADAMTS18 1 82434 1.21309E-5 41217 0 NA
16-77317940-G-C p.Asn1193Lys missense ADAMTS18 1 82356 1.21424E-5 41178 0 3.98524E-6
16-77317941-T-C p.Asn1193Ser missense ADAMTS18 1 82358 1.21421E-5 41179 0 8.24579E-6
16-77317946-G-A p.Phe1191Phe synonymous ADAMTS18 53 82298 6.44001E-4 41149 0 0.00161839
16-77317948-A-T p.Phe1191Ile missense ADAMTS18 2 82274 2.4309E-5 41137 0 2.47492E-5
16-77317949-A-G p.Asp1190Asp synonymous ADAMTS18 2 82246 2.43173E-5 41123 0 3.3E-5
16-77317950-T-C p.Asp1190Gly missense ADAMTS18 1 82214 1.21634E-5 41107 0 3.19673E-5
16-77317951-C-G p.Asp1190His missense ADAMTS18 2 82206 2.43291E-5 41103 0 3.30087E-5
16-77317953-A-C p.Val1189Gly missense ADAMTS18 3 82130 3.65275E-5 41065 0 3.19366E-5
16-77317954-C-T p.Val1189Ile missense ADAMTS18 448 82040 0.00546075 41020 1 0.00738397
16-77317955-G-A p.Cys1188Cys synonymous ADAMTS18 6 82038 7.31368E-5 41019 0 6.25E-4
16-77317962-G-A p.Pro1186Leu missense ADAMTS18 3 81844 3.66551E-5 40922 0 8.26761E-6
16-77317963-G-A p.Pro1186Ser missense ADAMTS18 3 81810 3.66703E-5 40905 0 3.99004E-6
16-77317963-G-T p.Pro1186Thr missense ADAMTS18 1 81812 1.22231E-5 40906 0 NA
16-77317966-C-A p.Asp1185Tyr missense+splice_region ADAMTS18 4 81674 4.89752E-5 40837 0 3.30972E-5
16-77317968-T-C p.Glu1184Gly missense+splice_region ADAMTS18 1 81528 1.22657E-5 40764 0 NA
16-77323161-C-G p.Glu1184Gln missense+splice_region ADAMTS18 1 83150 1.20265E-5 41575 0 NA
16-77323172-G-A p.Pro1180Leu missense ADAMTS18 1 83184 1.20215E-5 41592 0 8.24022E-6
16-77323177-T-C p.Pro1178Pro synonymous ADAMTS18 2 83202 2.40379E-5 41601 0 6.25E-4
16-77323184-A-T p.Phe1176Tyr missense ADAMTS18 1 83204 1.20187E-5 41602 0 NA
16-77323186-G-A p.Asn1175Asn synonymous ADAMTS18 612 83186 0.00735701 41593 6 0.0156966
16-77323191-T-C p.Thr1174Ala missense ADAMTS18 1 83200 1.20192E-5 41600 0 NA
16-77323202-C-T p.Arg1170Gln missense ADAMTS18 1 83176 1.20227E-5 41588 0 2.47202E-5
16-77323203-G-A p.Arg1170* stop_gained ADAMTS18 1 83162 1.20247E-5 41581 0 1.59185E-5
16-77323210-C-T p.Pro1167Pro synonymous ADAMTS18 181 83134 0.00217721 41567 1 0.00288518
16-77323210-C-A p.Pro1167Pro synonymous ADAMTS18 2 83140 2.40558E-5 41570 0 4.94413E-5
16-77323211-G-A p.Pro1167Leu missense ADAMTS18 6 83124 7.21813E-5 41562 0 6.25E-4
16-77323211-G-C p.Pro1167Arg missense ADAMTS18 1 83124 1.20302E-5 41562 0 1.64802E-5
16-77323221-G-C p.Gln1164Glu missense ADAMTS18 1 83144 1.20273E-5 41572 0 NA
16-77323230-G-C p.Leu1161Val missense ADAMTS18 9 83134 1.08259E-4 41567 0 2.47219E-5
16-77323235-C-G p.Ser1159Thr missense ADAMTS18 13029 82924 0.15712 41462 1048 0.19254
16-77323235-C-T p.Ser1159Asn missense ADAMTS18 1 83114 1.20317E-5 41557 0 3.18918E-5
16-77323246-C-G p.Arg1155Arg synonymous ADAMTS18 1 83060 1.20395E-5 41530 0 NA
16-77323246-C-T p.Arg1155Arg synonymous ADAMTS18 1 83060 1.20395E-5 41530 0 3.18695E-5
16-77323247-C-T p.Arg1155Gln missense ADAMTS18 3 83052 3.61219E-5 41526 0 2.23029E-4
16-77323248-G-A p.Arg1155Trp missense ADAMTS18 15 83052 1.8061E-4 41526 0 1.91241E-4
16-77323257-G-A p.Gln1152* stop_gained ADAMTS18 1 83010 1.20467E-5 41505 0 8.24525E-6
16-77323262-C-A p.Cys1150Phe missense ADAMTS18 2 83000 2.40964E-5 41500 0 NA
16-77323274-C-T p.Arg1146Gln missense ADAMTS18 2 82898 2.4126E-5 41449 0 1.99157E-5
16-77323275-G-T p.Arg1146Arg synonymous ADAMTS18 4 82890 4.82567E-5 41445 0 0.00375
16-77323276-G-C p.Thr1145Thr synonymous ADAMTS18 1 82848 1.20703E-5 41424 0 8.24946E-6
16-77323293-C-T p.Gly1140Arg missense ADAMTS18 4 82686 4.83758E-5 41343 0 1.19571E-5
16-77323297-G-C p.Thr1138Thr synonymous ADAMTS18 2 82674 2.41914E-5 41337 0 NA
16-77323303-T-G p.Thr1136Thr synonymous ADAMTS18 2 82548 2.42283E-5 41274 0 8.25887E-6
16-77323304-G-A p.Thr1136Ile missense ADAMTS18 1 82482 1.21239E-5 41241 0 8.26091E-6
16-77323309-C-G c.3403-1G>C splice_acceptor ADAMTS18 1 82388 1.21377E-5 41194 0 7.97906E-6
16-77323309-C-T c.3403-1G>A splice_acceptor ADAMTS18 1 82388 1.21377E-5 41194 0 8.26255E-6
16-77323312-C-G c.3403-4G>C splice_region ADAMTS18 338 82282 0.00410782 41141 0 0.00831202
16-77323312-C-T c.3403-4G>A splice_region ADAMTS18 962 82236 0.011698 41118 7 0.0214511
16-77323314-G-A c.3403-6C>T splice_region ADAMTS18 2 82258 2.43137E-5 41129 0 3.18552E-5
16-77325157-A-G c.3402+6T>C splice_region ADAMTS18 2 83068 2.40767E-5 41534 0 3.98076E-6
16-77325162-C-T c.3402+1G>A splice_donor ADAMTS18 2 83106 2.40657E-5 41553 0 2.38829E-5
16-77325163-C-T p.Gln1134Gln splice_region+synonymous ADAMTS18 5 83108 6.01627E-5 41554 0 9.55414E-5
16-77325174-G-A p.Pro1131Ser missense ADAMTS18 1 83160 1.2025E-5 41580 0 1.59198E-5
16-77325178-T-C p.Ser1129Ser synonymous ADAMTS18 4 83178 4.80896E-5 41589 0 4.94324E-5
16-77325185-C-T p.Trp1127* stop_gained ADAMTS18 6 83170 7.21414E-5 41585 0 8.75462E-5
16-77325187-T-C p.Gly1126Gly synonymous ADAMTS18 2 83166 2.40483E-5 41583 0 NA
16-77325196-C-A p.Met1123Ile missense ADAMTS18 1 83206 1.20184E-5 41603 0 3.1841E-5
16-77325197-A-G p.Met1123Thr missense ADAMTS18 2 83210 2.40356E-5 41605 0 8.2375E-6
16-77325198-T-C p.Met1123Val missense ADAMTS18 1 83204 1.20187E-5 41602 0 NA
16-77325200-T-C p.Asn1122Ser missense ADAMTS18 2 83204 2.40373E-5 41602 0 NA
16-77325207-C-A p.Val1120Leu missense ADAMTS18 2 83218 2.40333E-5 41609 0 2.54761E-4
16-77325210-G-C p.Pro1119Ala missense ADAMTS18 12 83232 1.44175E-4 41616 0 1.91034E-4
16-77325212-T-C p.His1118Arg missense ADAMTS18 2 83226 2.4031E-5 41613 0 NA
16-77325212-T-A p.His1118Leu missense ADAMTS18 2 83226 2.4031E-5 41613 0 1.40035E-4
16-77325219-G-T p.Pro1116Thr missense ADAMTS18 3 83224 3.60473E-5 41612 0 3.50126E-4
16-77325227-C-T p.Arg1113Gln missense ADAMTS18 1 83216 1.20169E-5 41608 0 2.47109E-5
16-77325228-G-A p.Arg1113Trp missense ADAMTS18 6 83216 7.21015E-5 41608 0 6.25E-4
16-77325230-C-T p.Arg1112Gln missense ADAMTS18 4 83212 4.807E-5 41606 0 1.6475E-5
16-77325239-G-A p.Thr1109Ile missense ADAMTS18 1 83230 1.20149E-5 41615 0 NA
16-77325243-C-T p.Glu1108Lys missense ADAMTS18 3 83236 3.60421E-5 41618 0 3.97823E-6
16-77325244-T-C p.Glu1107Glu synonymous ADAMTS18 34 83238 4.08467E-4 41619 0 0.00151057
16-77325259-TG-AT p.Pro1102His missense ADAMTS18 2 83250 2.4024E-5 41625 0 NA
16-77325270-T-C p.Ile1099Val missense ADAMTS18 1 83250 1.2012E-5 41625 0 NA
16-77325275-C-T p.Arg1097His missense ADAMTS18 20 83230 2.40298E-4 41615 0 5.03525E-4
16-77325275-C-G p.Arg1097Pro missense ADAMTS18 3 83230 3.60447E-5 41615 0 4.37585E-5
16-77325276-G-A p.Arg1097Cys missense ADAMTS18 32 83226 3.84495E-4 41613 0 2.34708E-4
16-77325300-T-G p.Ile1089Leu missense ADAMTS18 2 83192 2.40408E-5 41596 0 1.27397E-4
16-77325300-T-C p.Ile1089Val missense ADAMTS18 9 83192 1.08183E-4 41596 0 8.23696E-5
16-77325303-G-T p.Leu1088Met missense ADAMTS18 30 83190 3.6062E-4 41595 0 9.87261E-4
16-77325305-T-C p.Lys1087Arg missense ADAMTS18 1 83180 1.20221E-5 41590 0 NA
16-77325310-C-A p.Gln1085His missense ADAMTS18 1 83200 1.20192E-5 41600 0 NA
16-77325313-G-T p.Phe1084Leu missense ADAMTS18 1 83208 1.20181E-5 41604 0 3.29484E-5
16-77325317-C-A p.Gly1083Val missense ADAMTS18 3 83204 3.6056E-5 41602 0 8.23737E-6
16-77325319-C-G p.Lys1082Asn missense ADAMTS18 1 83210 1.20178E-5 41605 0 3.9781E-6
16-77325324-C-T p.Glu1081Lys missense ADAMTS18 10 83178 1.20224E-4 41589 0 5.03525E-4
16-77325325-G-T p.Ser1080Arg missense ADAMTS18 33547 82724 0.405529 41362 7622 0.377779
16-77325325-G-A p.Ser1080Ser synonymous ADAMTS18 3 83162 3.60742E-5 41581 0 9.88549E-5
16-77325329-C-T p.Cys1079Tyr missense ADAMTS18 1 83152 1.20262E-5 41576 0 NA
16-77325335-A-C p.Met1077Arg missense ADAMTS18 9 83144 1.08246E-4 41572 0 1.03477E-4
16-77325341-C-T p.Arg1075Lys missense ADAMTS18 1 83126 1.20299E-5 41563 0 NA
16-77325343-C-G p.Lys1074Asn missense ADAMTS18 5 83102 6.0167E-5 41551 0 5.03525E-4
16-77325344-T-C p.Lys1074Arg missense ADAMTS18 2 83094 2.40691E-5 41547 0 8.23981E-6
16-77325359-C-T p.Gly1069Asp missense ADAMTS18 1 82922 1.20595E-5 41461 0 NA
16-77325363-A-G p.Cys1068Arg missense ADAMTS18 1 82872 1.20668E-5 41436 0 NA
16-77325371-G-GAACA p.Ser1065fs frameshift ADAMTS18 2 82770 2.41633E-5 41385 0 NA
16-77325379-G-A c.3190-4C>T splice_region ADAMTS18 6 82678 7.25707E-5 41339 0 5.97829E-5
16-77326967-C-T c.3189+6G>A splice_region ADAMTS18 2 81666 2.449E-5 40833 0 1.67012E-5
16-77326976-G-A p.Ser1062Ser synonymous ADAMTS18 6 81936 7.32279E-5 40968 0 1.19654E-5
16-77326977-C-G p.Ser1062Thr missense ADAMTS18 1 81992 1.21963E-5 40996 0 NA
16-77326983-G-A p.Ser1060Leu missense ADAMTS18 3 82144 3.65212E-5 41072 0 7.03145E-4
16-77326987-A-C p.Ser1059Ala missense ADAMTS18 1 82236 1.21601E-5 41118 0 NA
16-77326988-A-G p.Ala1058Ala synonymous ADAMTS18 12 82242 1.45911E-4 41121 0 2.23471E-4
16-77326990-C-T p.Ala1058Thr missense ADAMTS18 74 82228 8.99937E-4 41114 1 0.00188366
16-77326991-G-A p.Val1057Val synonymous ADAMTS18 9 82254 1.09417E-4 41127 0 7.46764E-5
16-77327004-C-T p.Arg1053Gln missense ADAMTS18 1 82362 1.21415E-5 41181 0 2.4855E-5
16-77327005-G-A p.Arg1053Trp missense ADAMTS18 203 82336 0.00246551 41168 2 0.00704935
16-77327009-G-A p.Asn1051Asn synonymous ADAMTS18 1 82356 1.21424E-5 41178 0 NA
16-77327013-T-C p.Lys1050Arg missense ADAMTS18 2 82392 2.42742E-5 41196 0 4.13976E-5
16-77327018-G-A p.Cys1048Cys synonymous ADAMTS18 10583 81952 0.129137 40976 885 0.147771
16-77327020-A-G p.Cys1048Arg missense ADAMTS18 1 82396 1.21365E-5 41198 0 8.26788E-6
16-77327022-C-G p.Arg1047Pro missense ADAMTS18 3 82408 3.64042E-5 41204 0 2.55542E-4
16-77327022-C-T p.Arg1047Gln missense ADAMTS18 4 82410 4.85378E-5 41205 0 6.61408E-5
16-77327023-G-A p.Arg1047* stop_gained ADAMTS18 3 82424 3.63972E-5 41212 0 3.98356E-6
16-77327026-C-G p.Gly1046Arg missense ADAMTS18 1 82466 1.21262E-5 41233 0 NA
16-77327039-C-T p.Glu1041Glu synonymous ADAMTS18 2 82458 2.42548E-5 41229 0 4.77981E-5
16-77327042-C-T p.Gln1040Gln synonymous ADAMTS18 331 82492 0.00401251 41246 1 0.004375
16-77327045-C-T p.Leu1039Leu synonymous ADAMTS18 1 82492 1.21224E-5 41246 0 NA
16-77327055-C-G p.Arg1036Thr missense ADAMTS18 1 82456 1.21277E-5 41228 0 NA
16-77327057-G-T p.Pro1035Pro synonymous ADAMTS18 1 82470 1.21256E-5 41235 0 NA
16-77327063-A-T p.Ser1033Arg missense ADAMTS18 1 82526 1.21174E-5 41263 0 1.65314E-5
16-77327067-G-C p.Thr1032Ser missense ADAMTS18 1 82526 1.21174E-5 41263 0 6.39264E-5
16-77327075-G-C p.Ser1029Arg missense ADAMTS18 1 82480 1.21242E-5 41240 0 3.98371E-6
16-77327076-C-A p.Ser1029Ile missense ADAMTS18 1 82464 1.21265E-5 41232 0 NA
16-77327080-C-T p.Glu1028Lys missense ADAMTS18 1 82420 1.2133E-5 41210 0 3.20041E-5
16-77327081-G-A p.Pro1027Pro synonymous ADAMTS18 18 82408 2.18425E-4 41204 0 1.65434E-4
16-77327093-T-C p.Ala1023Ala synonymous ADAMTS18 1 82330 1.21462E-5 41165 0 6.39223E-5
16-77327095-C-T p.Ala1023Thr missense ADAMTS18 10 82306 1.21498E-4 41153 0 0.00201613
16-77327096-G-A p.Ala1022Ala synonymous ADAMTS18 2 82292 2.43037E-5 41146 0 3.9846E-5
16-77327102-G-T p.Gly1020Gly synonymous ADAMTS18 2 82152 2.43451E-5 41076 0 NA
16-77327114-G-C p.Leu1016Leu synonymous ADAMTS18 2 81938 2.44087E-5 40969 0 0.00100705
16-77327114-G-A p.Leu1016Leu synonymous ADAMTS18 2 81938 2.44087E-5 40969 0 3.98489E-6
16-77327117-TTC-T p.Glu1015fs frameshift ADAMTS18 1 81866 1.22151E-5 40933 0 1.65818E-5
16-77327120-A-AAC p.Glu1015fs frameshift ADAMTS18 1 81702 1.22396E-5 40851 0 1.65959E-5
16-77327121-C-T p.Arg1014His missense ADAMTS18 3 81604 3.67629E-5 40802 0 8.29807E-6
16-77327122-G-A p.Arg1014Cys missense ADAMTS18 67 81528 8.21804E-4 40764 0 7.01654E-4
16-77327126-C-A p.Arg1012Ser missense ADAMTS18 1 81420 1.2282E-5 40710 0 NA
16-77327131-C-A p.Val1011Leu missense ADAMTS18 1 81244 1.23086E-5 40622 0 4.3867E-5
16-77327132-CCC-ACA p.Gly1010Cys missense ADAMTS18 10 81226 1.23113E-4 40613 0 NA
16-77327132-C-A p.Gly1010Gly synonymous ADAMTS18 1 81226 1.23113E-5 40613 0 6.38126E-5
16-77327134-C-A p.Gly1010Trp missense ADAMTS18 1 81154 1.23223E-5 40577 0 6.78009E-5
16-77327136-C-T p.Arg1009Gln missense ADAMTS18 7 81010 8.64091E-5 40505 0 2.24388E-4
16-77327138-T-C p.Gly1008Gly synonymous ADAMTS18 1 80868 1.23658E-5 40434 0 8.32016E-6
16-77327145-G-C p.Thr1006Ser missense ADAMTS18 1 80484 1.24248E-5 40242 0 1.66622E-5
16-77327150-G-A p.Ser1004Ser synonymous ADAMTS18 1 80048 1.24925E-5 40024 0 8.34265E-6
16-77327156-C-G c.3007-1G>C splice_acceptor ADAMTS18 3 79182 3.78874E-5 39591 0 6.68583E-5
16-77327159-G-C c.3007-4C>G splice_region ADAMTS18 2 78594 2.54472E-5 39297 0 8.3619E-6
16-77327159-G-A c.3007-4C>T splice_region ADAMTS18 1 78594 1.27236E-5 39297 0 NA
16-77327162-A-C c.3007-7T>G splice_region ADAMTS18 9 78108 1.15225E-4 39054 0 2.88999E-4
16-77328828-A-G p.Trp1000Arg missense ADAMTS18 1 83134 1.20288E-5 41567 0 8.29036E-6
16-77328829-G-C p.Pro999Pro synonymous ADAMTS18 1 83140 1.20279E-5 41570 0 NA
16-77328837-G-C p.Leu997Val missense ADAMTS18 2 83190 2.40414E-5 41595 0 5.03525E-4
16-77328838-G-A p.Ser996Ser synonymous ADAMTS18 1 83186 1.20213E-5 41593 0 3.97909E-6
16-77328846-G-C p.Gln994Glu missense ADAMTS18 1 83236 1.2014E-5 41618 0 NA
16-77328861-G-A p.His989Tyr missense ADAMTS18 1 83254 1.20114E-5 41627 0 8.25382E-6
16-77328872-G-C p.Ala985Gly missense ADAMTS18 128 83252 0.0015375 41626 0 0.00553877
16-77328876-G-C p.Gln984Glu missense ADAMTS18 2 83230 2.40298E-5 41615 0 8.25682E-6
16-77328887-G-T p.Pro980His missense ADAMTS18 12 83234 1.44172E-4 41617 0 1.91107E-4
16-77328892-G-A p.Ser978Ser synonymous ADAMTS18 1 83232 1.20146E-5 41616 0 3.97867E-6
16-77328895-C-T p.Val977Val synonymous ADAMTS18 10418 83038 0.125461 41519 802 0.135
16-77328898-T-C p.Pro976Pro synonymous ADAMTS18 2 83244 2.40258E-5 41622 0 NA
16-77328906-G-C p.Leu974Val missense ADAMTS18 5 83238 6.00687E-5 41619 0 6.25E-4
16-77328910-A-G p.His972His synonymous ADAMTS18 2 83240 2.40269E-5 41620 0 1.19348E-5
16-77328917-A-G p.Val970Ala missense ADAMTS18 1 83224 1.20158E-5 41612 0 NA
16-77328918-C-T p.Val970Met missense ADAMTS18 2 83222 2.40321E-5 41611 0 5.76986E-5
16-77328919-T-G p.Ala969Ala synonymous ADAMTS18 3 83220 3.6049E-5 41610 0 4.1214E-5
16-77328919-T-A p.Ala969Ala synonymous ADAMTS18 1 83220 1.20163E-5 41610 0 NA
16-77328923-T-C p.Glu968Gly missense ADAMTS18 2 83214 2.40344E-5 41607 0 NA
16-77328924-C-T p.Glu968Lys missense ADAMTS18 4 83216 4.80677E-5 41608 0 6.25E-4
16-77328933-G-C p.Gln965Glu missense ADAMTS18 1 83202 1.20189E-5 41601 0 NA
16-77328937-G-A p.Pro963Pro synonymous ADAMTS18 2 83190 2.40414E-5 41595 0 2.38753E-5
16-77328948-GCA-G p.Val959fs frameshift ADAMTS18 1 83122 1.20305E-5 41561 0 NA
16-77328951-C-T p.Val959Met missense ADAMTS18 1 83100 1.20337E-5 41550 0 NA
16-77328956-T-C p.Gln957Arg missense ADAMTS18 2 83058 2.40796E-5 41529 0 1.19414E-5
16-77328958-G-C p.Ile956Met missense ADAMTS18 71 83050 8.54907E-4 41525 1 0.00216699
16-77328961-C-G p.Lys955Asn missense ADAMTS18 1 83022 1.2045E-5 41511 0 NA
16-77328965-C-T p.Arg954Gln missense ADAMTS18 1 82964 1.20534E-5 41482 0 8.2428E-6
16-77328966-G-A p.Arg954* stop_gained ADAMTS18 3 82926 3.61768E-5 41463 0 NA
16-77328981-C-T p.Gly949Arg missense ADAMTS18 1 82792 1.20785E-5 41396 0 3.98276E-6
16-77328990-C-A p.Ala946Ser missense ADAMTS18 9704 81776 0.118666 40888 531 0.135133
16-77329000-T-C p.Thr942Thr synonymous ADAMTS18 7 82490 8.48588E-5 41245 0 0.00100705
16-77329002-T-C p.Thr942Ala missense ADAMTS18 1 82452 1.21283E-5 41226 0 NA
16-77329018-C-T p.Met936Ile missense ADAMTS18 3 81952 3.66068E-5 40976 0 1.65777E-5
16-77329031-G-C c.2802-7C>G splice_region ADAMTS18 1 81072 1.23347E-5 40536 0 NA
16-77331179-G-A c.2801+7C>T splice_region ADAMTS18 1 83292 1.2006E-5 41646 0 NA
16-77331191-C-T p.Pro932Pro synonymous ADAMTS18 4 83320 4.80077E-5 41660 0 2.47162E-5
16-77331194-G-A p.Cys931Cys synonymous ADAMTS18 2 83326 2.40021E-5 41663 0 1.59094E-5
16-77331206-G-A p.Asn927Asn synonymous ADAMTS18 9 83328 1.08007E-4 41664 0 1.15335E-4
16-77331219-G-T p.Pro923His missense ADAMTS18 7 83320 8.40134E-5 41660 0 9.55231E-5
16-77331230-T-C p.Pro919Pro synonymous ADAMTS18 1 83316 1.20025E-5 41658 0 3.97703E-6
16-77331231-G-A p.Pro919Leu missense ADAMTS18 4 83308 4.80146E-5 41654 0 6.25E-4
16-77331232-G-C p.Pro919Ala missense ADAMTS18 3 83314 3.60084E-5 41657 1 NA
16-77331235-T-C p.Lys918Glu missense ADAMTS18 117 83310 0.00140439 41655 0 0.00352467
16-77331248-G-A p.Cys913Cys synonymous ADAMTS18 3 83284 3.60213E-5 41642 0 3.18532E-5
16-77331255-G-A p.Ser911Leu missense ADAMTS18 1 83286 1.20068E-5 41643 0 NA
16-77331261-T-C p.Asn909Ser missense ADAMTS18 3 83292 3.60179E-5 41646 0 3.1837E-5
16-77331265-C-T p.Val908Ile missense ADAMTS18 3 83274 3.60256E-5 41637 0 8.23805E-6
16-77331275-T-C p.Gln904Gln synonymous ADAMTS18 1 83262 1.20103E-5 41631 0 NA
16-77331282-C-T p.Arg902Gln missense ADAMTS18 2 83238 2.40275E-5 41619 0 6.36902E-5
16-77333937-T-C n.668A>G splice_region ADAMTS18 2 41618 4.80561E-5 20809 0 NA
16-77334152-T-C c.2674+8A>G splice_region ADAMTS18 1 82880 1.20656E-5 41440 0 NA
16-77334154-A-G c.2674+6T>C splice_region ADAMTS18 1 82908 1.20616E-5 41454 0 0.00125
16-77334166-C-T p.Gly890Ser missense ADAMTS18 1 83078 1.20369E-5 41539 0 NA
16-77334171-G-A p.Ser888Phe missense ADAMTS18 1 83108 1.20325E-5 41554 0 NA
16-77334175-C-T p.Val887Ile missense ADAMTS18 4 83124 4.81209E-5 41562 0 3.18492E-5
16-77334176-G-A p.Ser886Ser synonymous ADAMTS18 5 83136 6.01424E-5 41568 0 1.73184E-4
16-77334178-A-C p.Ser886Ala missense ADAMTS18 4 83144 4.81093E-5 41572 0 6.36821E-5
16-77334183-T-C p.Glu884Gly missense ADAMTS18 1 83188 1.2021E-5 41594 0 NA
16-77334193-C-T p.Val881Met missense ADAMTS18 1 83208 1.20181E-5 41604 0 1.1934E-5
16-77334203-G-C p.Thr877Thr synonymous ADAMTS18 1 83250 1.2012E-5 41625 0 NA
16-77334204-G-A p.Thr877Ile missense ADAMTS18 1 83252 1.20117E-5 41626 0 NA
16-77334213-G-A p.Pro874Leu missense ADAMTS18 1 83266 1.20097E-5 41633 0 NA
16-77334216-C-G p.Arg873Thr missense ADAMTS18 40 83258 4.80434E-4 41629 1 0.00151057
16-77334216-C-A p.Arg873Ile missense ADAMTS18 1 83260 1.20106E-5 41630 0 9.55536E-5
16-77334225-G-T p.Ala870Asp missense ADAMTS18 2 83278 2.40159E-5 41639 0 3.18735E-5
16-77334227-T-C p.Pro869Pro synonymous ADAMTS18 1 83268 1.20094E-5 41634 0 NA
16-77334230-T-G p.Pro868Pro synonymous ADAMTS18 2 72344 2.76457E-5 36172 0 0.48322
16-77334230-T-TGGA p.Pro868dup disruptive_inframe_insertion ADAMTS18 1 83146 1.2027E-5 41573 0 4.98982E-6
16-77334232-G-C p.Pro868Ala missense ADAMTS18 1 83170 1.20236E-5 41585 0 8.24294E-6
16-77334233-A-G p.Thr867Thr synonymous ADAMTS18 569 74184 0.00767012 37092 0 0.356039
16-77334234-G-A p.Thr867Ile missense ADAMTS18 2 83112 2.40639E-5 41556 0 NA
16-77334235-T-A p.Thr867Ser missense ADAMTS18 1 83092 1.20349E-5 41546 0 9.05272E-6
16-77334237-C-A p.Gly866Val missense ADAMTS18 2 83110 2.40645E-5 41555 0 1.65684E-5
16-77334239-A-G p.Asn865Asn synonymous ADAMTS18 2 83122 2.4061E-5 41561 0 1.07801E-4
16-77334241-T-G p.Asn865His missense ADAMTS18 2 83132 2.40581E-5 41566 0 8.25505E-6
16-77334269-A-T p.Ala855Ala synonymous ADAMTS18 1 83210 1.20178E-5 41605 0 9.06529E-5
16-77334274-T-A p.Ile854Leu missense ADAMTS18 1 83200 1.20192E-5 41600 0 NA
16-77334293-C-A p.Met847Ile missense ADAMTS18 412 83176 0.00495335 41588 6 0.0101969
16-77334293-C-T p.Met847Ile missense ADAMTS18 1 83190 1.20207E-5 41595 0 8.2409E-6
16-77334294-A-T p.Met847Lys missense ADAMTS18 1 83188 1.2021E-5 41594 0 NA
16-77334298-G-A p.Leu846Leu synonymous ADAMTS18 4 83192 4.80815E-5 41596 0 3.46106E-4
16-77334299-A-G p.Ile845Ile splice_region+synonymous ADAMTS18 2 83192 2.40408E-5 41596 0 2.78489E-5
16-77334301-T-C p.Ile845Val missense+splice_region ADAMTS18 1 83184 1.20215E-5 41592 0 NA
16-77334305-G-A c.2533-4C>T splice_region ADAMTS18 1 83174 1.2023E-5 41587 0 NA
16-77334307-C-G c.2533-6G>C splice_region ADAMTS18 2 83170 2.40471E-5 41585 0 NA
16-77353755-C-A p.Leu841Leu synonymous ADAMTS18 5 82994 6.02453E-5 41497 0 3.18512E-5
16-77353755-C-T p.Leu841Leu synonymous ADAMTS18 1 82994 1.20491E-5 41497 0 3.18512E-5
16-77353758-C-A p.Thr840Thr synonymous ADAMTS18 3 82974 3.61559E-5 41487 0 3.18471E-5
16-77353759-G-A p.Thr840Met missense ADAMTS18 4 83006 4.81893E-5 41503 0 0.00125
16-77353763-C-G p.Glu839Gln missense ADAMTS18 2 83038 2.40854E-5 41519 0 NA
16-77353766-T-C p.Asn838Asp missense ADAMTS18 2 83048 2.40825E-5 41524 0 NA
16-77353770-G-A p.Pro836Pro synonymous ADAMTS18 28 83102 3.36935E-4 41551 0 0.001875
16-77353776-T-C p.Pro834Pro synonymous ADAMTS18 2 83154 2.40518E-5 41577 0 3.18492E-5
16-77353777-G-A p.Pro834Leu missense ADAMTS18 2 83162 2.40494E-5 41581 0 NA
16-77353778-G-A p.Pro834Ser missense ADAMTS18 227 83154 0.00272987 41577 1 0.0075
16-77353781-C-T p.Ala833Thr missense ADAMTS18 2 83168 2.40477E-5 41584 0 2.08535E-4
16-77353782-G-A p.Tyr832Tyr synonymous ADAMTS18 9 83190 1.08186E-4 41595 0 1.87203E-4
16-77353783-T-C p.Tyr832Cys missense ADAMTS18 2 83190 2.40414E-5 41595 0 NA
16-77353789-C-T p.Arg830His missense ADAMTS18 2 83216 2.40338E-5 41608 0 5.04032E-4
16-77353790-G-A p.Arg830Cys missense ADAMTS18 86 83198 0.00103368 41599 1 0.00126309
16-77353790-G-T p.Arg830Ser missense ADAMTS18 2 83202 2.40379E-5 41601 0 NA
16-77353794-C-T p.Pro828Pro synonymous ADAMTS18 78 83198 9.37523E-4 41599 0 0.00453629
16-77353795-G-A p.Pro828Leu missense ADAMTS18 2 83200 2.40385E-5 41600 0 3.31923E-5
16-77353798-C-A p.Arg827Leu missense ADAMTS18 55 83182 6.61201E-4 41591 0 4.77692E-4
16-77353798-C-T p.Arg827His missense ADAMTS18 58 83182 6.97266E-4 41591 0 6.25E-4
16-77353799-G-A p.Arg827Cys missense ADAMTS18 5 83188 6.01048E-5 41594 0 3.18512E-5
16-77353801-T-C p.Asn826Ser missense ADAMTS18 5 83186 6.01063E-5 41593 0 1.82131E-4
16-77353801-T-G p.Asn826Thr missense ADAMTS18 1 83186 1.20213E-5 41593 0 NA
16-77353802-T-G p.Asn826His missense ADAMTS18 223 83192 0.00268055 41596 1 0.0375
16-77353802-T-A p.Asn826Tyr missense ADAMTS18 2 83194 2.40402E-5 41597 0 8.2765E-6
16-77353809-G-A p.Arg823Arg synonymous ADAMTS18 2 83188 2.40419E-5 41594 0 NA
16-77353811-G-A p.Arg823Cys missense ADAMTS18 1 83176 1.20227E-5 41588 0 3.18451E-5
16-77353818-T-C p.Glu820Glu synonymous ADAMTS18 1 83202 1.20189E-5 41601 0 5.03525E-4
16-77353824-C-T p.Thr818Thr synonymous ADAMTS18 1 83166 1.20241E-5 41583 0 3.97953E-6
16-77353827-G-A p.Thr817Thr synonymous ADAMTS18 2 83152 2.40523E-5 41576 0 4.95107E-5
16-77353835-C-A p.Ala815Ser missense ADAMTS18 1 83126 1.20299E-5 41563 0 3.18573E-5
16-77353839-G-C p.Pro813Pro synonymous ADAMTS18 2 83138 2.40564E-5 41569 0 7.95995E-6
16-77353840-G-T p.Pro813His missense ADAMTS18 2 83140 2.40558E-5 41570 0 3.18471E-5
16-77353841-G-T p.Pro813Thr missense ADAMTS18 1 83134 1.20288E-5 41567 0 1.19405E-5
16-77353844-A-G p.Phe812Leu missense ADAMTS18 1 83120 1.20308E-5 41560 0 3.98035E-6
16-77353845-C-T p.Glu811Glu synonymous ADAMTS18 2 83118 2.40622E-5 41559 0 NA
16-77353847-C-T p.Glu811Lys missense ADAMTS18 1 83118 1.20311E-5 41559 0 3.98048E-6
16-77353853-G-A p.Pro809Ser missense ADAMTS18 1 83108 1.20325E-5 41554 0 NA
16-77353853-G-T p.Pro809Thr missense ADAMTS18 1 83108 1.20325E-5 41554 0 1.99037E-5
16-77353859-C-T p.Asp807Asn missense ADAMTS18 3 83094 3.61037E-5 41547 0 NA
16-77353866-C-G p.Trp804Cys missense ADAMTS18 1 83088 1.20354E-5 41544 0 2.47353E-5
16-77353870-C-T p.Gly803Asp missense ADAMTS18 1 83070 1.2038E-5 41535 0 NA
16-77353874-C-T p.Gly802Arg missense ADAMTS18 1 83078 1.20369E-5 41539 0 3.18492E-5
16-77353876-G-C p.Thr801Ser missense ADAMTS18 1 83058 1.20398E-5 41529 0 NA
16-77353887-C-G p.Lys797Asn missense ADAMTS18 1 83014 1.20462E-5 41507 0 8.24443E-6
16-77353891-T-C p.Gln796Arg missense ADAMTS18 2 82992 2.40987E-5 41496 0 3.18552E-5
16-77353891-T-A p.Gln796Leu missense ADAMTS18 1 82992 1.20494E-5 41496 0 NA
16-77353898-G-C p.Leu794Val missense ADAMTS18 27 82960 3.25458E-4 41480 0 0.00100705
16-77353898-G-A p.Leu794Phe missense ADAMTS18 1 82960 1.2054E-5 41480 0 5.77101E-5
16-77353910-C-T p.Ala790Thr missense ADAMTS18 1 82716 1.20896E-5 41358 0 8.24389E-6
16-77353911-G-A p.Leu789Leu synonymous ADAMTS18 2 82726 2.41762E-5 41363 0 2.47321E-5
16-77353911-G-C p.Leu789Leu synonymous ADAMTS18 2 82726 2.41762E-5 41363 0 1.2738E-4
16-77353913-G-T p.Leu789Ile missense ADAMTS18 2 82730 2.4175E-5 41365 0 1.6487E-5
16-77353913-G-C p.Leu789Val missense ADAMTS18 1 82730 1.20875E-5 41365 0 2.47304E-5
16-77353914-G-C p.Tyr788* stop_gained ADAMTS18 1 82724 1.20884E-5 41362 0 2.79327E-5
16-77353918-C-G p.Ser787Thr missense ADAMTS18 3 82626 3.63082E-5 41313 1 1.64867E-5
16-77353927-A-G p.Val784Ala missense ADAMTS18 1 82516 1.21189E-5 41258 0 3.99482E-6
16-77353929-C-T p.Gln783Gln synonymous ADAMTS18 319 82512 0.0038661 41256 2 0.00777219
16-77353938-C-T p.Gln780Gln synonymous ADAMTS18 23 82398 2.79133E-4 41199 0 1.89619E-4
16-77353943-T-C p.Ile779Val missense ADAMTS18 1 82326 1.21468E-5 41163 0 NA
16-77353946-C-T p.Glu778Lys missense ADAMTS18 1 82228 1.21613E-5 41114 0 8.24498E-6
16-77353956-G-C p.Ala774Ala synonymous ADAMTS18 1 82108 1.21791E-5 41054 0 NA
16-77353959-G-A p.Gly773Gly synonymous ADAMTS18 11 82076 1.34022E-4 41038 0 1.27502E-4
16-77353964-C-G p.Ala772Pro missense ADAMTS18 2 82210 2.43279E-5 41105 0 3.61014E-5
16-77353966-G-A p.Pro771Leu missense ADAMTS18 1 82274 1.21545E-5 41137 0 NA
16-77353973-G-T p.Leu769Ile missense ADAMTS18 37212 80872 0.460135 40436 9186 0.525338
16-77353980-C-T p.Pro766Pro synonymous ADAMTS18 39 82320 4.73761E-4 41160 0 0.0013696
16-77353984-T-C p.Tyr765Cys missense ADAMTS18 1 82398 1.21362E-5 41199 0 3.18431E-5
16-77354967-ATC-A c.2287+7_2287+8delGA splice_region ADAMTS18 3 83142 3.60828E-5 41571 0 NA
16-77354979-T-A p.Asn762Tyr missense ADAMTS18 1 83168 1.20239E-5 41584 0 NA
16-77354983-T-A p.Lys760Asn missense ADAMTS18 1 83174 1.2023E-5 41587 0 8.23723E-6
16-77354985-T-C p.Lys760Glu missense ADAMTS18 1 83164 1.20244E-5 41582 0 3.97836E-6
16-77355004-G-A p.Gly753Gly synonymous ADAMTS18 1 83166 1.20241E-5 41583 0 3.97836E-6
16-77355005-C-A p.Gly753Val missense ADAMTS18 1 83168 1.20239E-5 41584 0 NA
16-77355022-A-C p.Thr747Thr synonymous ADAMTS18 27 83142 3.24746E-4 41571 0 6.36699E-5
16-77355030-T-G p.Asn745His missense ADAMTS18 1 83152 1.20262E-5 41576 0 NA
16-77355033-C-G p.Asp744His missense ADAMTS18 1 83142 1.20276E-5 41571 0 NA
16-77355045-C-T p.Val740Ile missense ADAMTS18 8 83082 9.62904E-5 41541 0 4.94625E-5
16-77355046-G-A p.Gly739Gly synonymous ADAMTS18 1 83064 1.20389E-5 41532 0 1.64886E-5
16-77355058-T-G p.Ser735Ser synonymous ADAMTS18 2 83002 2.40958E-5 41501 0 3.1839E-5
16-77355060-A-T p.Ser735Thr missense ADAMTS18 2 82998 2.4097E-5 41499 0 2.47521E-5
16-77355063-C-A p.Val734Phe missense ADAMTS18 2 82992 2.40987E-5 41496 0 2.47553E-5
16-77355063-C-T p.Val734Ile missense ADAMTS18 2 82992 2.40987E-5 41496 0 1.65036E-5
16-77355073-G-A p.Gly730Gly synonymous ADAMTS18 317 82906 0.00382361 41453 2 0.00767272
16-77355077-A-G p.Leu729Pro missense ADAMTS18 2 82916 2.41208E-5 41458 0 NA
16-77355102-G-T c.2164-3C>A splice_region ADAMTS18 1 82558 1.21127E-5 41279 0 8.29793E-6
16-77355104-G-A c.2164-5C>T splice_region ADAMTS18 1 82508 1.212E-5 41254 0 3.99071E-6
16-77356226-C-G c.2163+7G>C splice_region ADAMTS18 1 82982 1.20508E-5 41491 0 3.97972E-6
16-77356229-T-C c.2163+4A>G splice_region ADAMTS18 1 83026 1.20444E-5 41513 0 NA
16-77356245-G-A p.Asp717Asp synonymous ADAMTS18 1 83158 1.20253E-5 41579 0 9.60307E-5
16-77356250-T-C p.Ile716Val missense ADAMTS18 1 83206 1.20184E-5 41603 0 7.95583E-6
16-77356261-T-C p.Asn712Ser missense ADAMTS18 1 83264 1.201E-5 41632 0 3.1957E-5
16-77356272-G-A p.Ser708Ser synonymous ADAMTS18 1 83266 1.20097E-5 41633 0 3.97728E-6
16-77356275-GC-TA p.Cys707Leu missense ADAMTS18 1 83262 1.20103E-5 41631 0 NA
16-77356275-G-A p.Cys707Cys synonymous ADAMTS18 1 83262 1.20103E-5 41631 0 3.97719E-6
16-77356297-T-C p.Lys700Arg missense ADAMTS18 1 83270 1.20091E-5 41635 0 NA
16-77356301-C-T p.Gly699Ser missense ADAMTS18 2 83262 2.40206E-5 41631 0 2.78456E-5
16-77356302-G-A p.Ser698Ser synonymous ADAMTS18 15 83270 1.80137E-4 41635 0 0.00100705
16-77356310-CA-C p.Phe695fs frameshift ADAMTS18 4 83236 4.80561E-5 41618 0 2.97462E-4
16-77356326-G-C p.Asn690Lys missense ADAMTS18 7 83190 8.41447E-5 41595 0 0.00125
16-77356350-G-T p.Cys682* stop_gained ADAMTS18 1 83084 1.2036E-5 41542 0 NA
16-77356352-A-T p.Cys682Ser missense ADAMTS18 1 83064 1.20389E-5 41532 0 NA
16-77356360-T-A p.Glu679Val missense ADAMTS18 1 82988 1.20499E-5 41494 0 NA
16-77356365-T-C c.2033-2A>G splice_acceptor ADAMTS18 1 82962 1.20537E-5 41481 0 8.2575E-6
16-77356367-G-A c.2033-4C>T splice_region ADAMTS18 3 82950 3.61664E-5 41475 0 1.59439E-4
16-77359756-A-G c.2032+7T>C splice_region ADAMTS18 1 82894 1.20636E-5 41447 0 NA
16-77359769-C-A p.Val676Leu missense ADAMTS18 3 82964 3.61603E-5 41482 0 3.3195E-5
16-77359776-A-G p.Tyr673Tyr synonymous ADAMTS18 1 83026 1.20444E-5 41513 0 8.28267E-6
16-77359779-G-C p.Pro672Pro synonymous ADAMTS18 5 83048 6.02061E-5 41524 0 4.13832E-5
16-77359779-G-A p.Pro672Pro synonymous ADAMTS18 1 83050 1.20409E-5 41525 0 NA
16-77359780-G-C p.Pro672Arg missense ADAMTS18 1 83054 1.20404E-5 41527 0 NA
16-77359781-G-A p.Pro672Ser missense ADAMTS18 1 83058 1.20398E-5 41529 0 7.9661E-6
16-77359786-C-T p.Trp670* stop_gained ADAMTS18 2 83064 2.40778E-5 41532 0 3.98314E-6
16-77359794-G-T p.Phe667Leu missense ADAMTS18 1 83084 1.2036E-5 41542 0 NA
16-77359804-C-T p.Arg664His missense ADAMTS18 4 83100 4.81348E-5 41550 0 2.47537E-5
16-77359810-G-C p.Pro662Arg missense ADAMTS18 5 83132 6.01453E-5 41566 0 0.001875
16-77359816-C-T p.Ser660Asn missense ADAMTS18 71 83140 8.53981E-4 41570 0 8.12057E-4
16-77359818-G-A p.Asn659Asn synonymous ADAMTS18 1 83146 1.2027E-5 41573 0 NA
16-77359843-C-T p.Arg651Gln missense ADAMTS18 3 83110 3.60967E-5 41555 0 NA
16-77359857-A-G p.Asn646Asn synonymous ADAMTS18 4 83138 4.81128E-5 41569 0 8.24579E-6
16-77359879-T-C p.Asn639Ser missense ADAMTS18 31 83102 3.73036E-4 41551 0 0.001875
16-77359893-A-C p.Ile634Met missense ADAMTS18 2 83106 2.40657E-5 41553 0 2.38795E-5
16-77359897-C-A p.Arg633Leu missense ADAMTS18 1 83090 1.20351E-5 41545 0 8.25028E-6
16-77359897-C-T p.Arg633His missense ADAMTS18 1 83090 1.20351E-5 41545 0 NA
16-77359898-G-A p.Arg633Cys missense ADAMTS18 15 83080 1.80549E-4 41540 0 1.98007E-4
16-77359903-G-A p.Ser631Phe missense ADAMTS18 1 83072 1.20378E-5 41536 0 0.0060423
16-77359919-A-T p.Leu626Ile missense ADAMTS18 30654 81794 0.374771 40897 6129 0.438278
16-77359935-C-A p.Lys620Asn missense+splice_region ADAMTS18 1 82930 1.20584E-5 41465 0 NA
16-77369646-G-T c.1859+7C>A splice_region ADAMTS18 1 83302 1.20045E-5 41651 0 NA
16-77369658-G-T p.Asn618Lys missense ADAMTS18 1 83330 1.20005E-5 41665 0 6.58924E-5
16-77369673-C-G p.Glu613Asp missense ADAMTS18 1 83332 1.20002E-5 41666 0 1.64731E-5
16-77369677-TG-T p.Gln612fs frameshift ADAMTS18 2 83336 2.39992E-5 41668 0 NA
16-77369682-C-A p.Lys610Asn missense ADAMTS18 4 83328 4.80031E-5 41664 0 1.64734E-5
16-77369683-T-G p.Lys610Thr missense ADAMTS18 4 83332 4.80008E-5 41666 0 6.3674E-5
16-77369700-T-C p.Thr604Thr synonymous ADAMTS18 1 83332 1.20002E-5 41666 0 9.94154E-5
16-77369702-T-A p.Thr604Ser missense ADAMTS18 1 83334 1.19999E-5 41667 0 3.97668E-6
16-77369724-C-T p.Ser596Ser synonymous ADAMTS18 3 83318 3.60066E-5 41659 0 1.6475E-5
16-77369725-G-C p.Ser596Trp missense ADAMTS18 1 83314 1.20028E-5 41657 0 NA
16-77369732-C-T p.Ala594Thr missense ADAMTS18 127 83304 0.00152454 41652 1 0.00324538
16-77369733-G-A p.Ser593Ser synonymous ADAMTS18 1 83302 1.20045E-5 41651 0 7.95456E-6
16-77369744-C-T p.Gly590Ser missense ADAMTS18 1 83272 1.20088E-5 41636 0 7.95463E-6
16-77369745-G-A p.His589His synonymous ADAMTS18 21 83278 2.52167E-4 41639 0 1.59276E-4
16-77369752-G-T p.Pro587His missense ADAMTS18 3 83280 3.60231E-5 41640 0 NA
16-77369755-C-T p.Arg586Gln missense ADAMTS18 7 83262 8.4072E-5 41631 0 6.25E-4
16-77369756-G-A p.Arg586Trp missense ADAMTS18 3 83250 3.6036E-5 41625 0 6.37186E-5
16-77369756-G-T p.Arg586Arg synonymous ADAMTS18 1 83250 1.2012E-5 41625 0 1.98908E-5
16-77369762-C-T p.Gly584Arg missense ADAMTS18 2 83242 2.40263E-5 41621 0 3.58029E-5
16-77369763-G-A p.Leu583Leu synonymous ADAMTS18 1 83242 1.20132E-5 41621 0 3.18613E-5
16-77369778-T-G p.Val578Val synonymous ADAMTS18 1 83212 1.20175E-5 41606 0 NA
16-77369780-C-T p.Val578Ile missense ADAMTS18 10 83200 1.20192E-4 41600 0 0.001875
16-77369786-G-A p.Gln576* stop_gained ADAMTS18 1 83204 1.20187E-5 41602 0 NA
16-77369795-G-A p.Arg573Trp missense ADAMTS18 3 83162 3.60742E-5 41581 0 NA
16-77369802-CTG-C c.1711-3_1711-2delCA splice_acceptor ADAMTS18 1 83148 1.20267E-5 41574 0 NA
16-77375593-C-A c.1710+8G>T splice_region ADAMTS18 2 82890 2.41284E-5 41445 0 4.02152E-6
16-77375594-A-G c.1710+7T>C splice_region ADAMTS18 29 82904 3.49802E-4 41452 1 0.001875
16-77375615-A-C p.Cys566Gly missense ADAMTS18 2 83114 2.40633E-5 41557 0 NA
16-77375616-A-G p.Val565Val synonymous ADAMTS18 1 83110 1.20322E-5 41555 0 NA
16-77375618-C-T p.Val565Ile missense ADAMTS18 9 83100 1.08303E-4 41550 0 6.25E-4
16-77375619-G-A p.Thr564Thr synonymous ADAMTS18 2 83118 2.40622E-5 41559 0 6.37714E-5
16-77375634-G-A p.Pro559Pro synonymous ADAMTS18 3 83172 3.60698E-5 41586 0 5.27593E-5
16-77375634-G-C p.Pro559Pro synonymous ADAMTS18 2 83172 2.40466E-5 41586 0 NA
16-77375642-A-G p.Phe557Leu missense ADAMTS18 1 83226 1.20155E-5 41613 0 NA
16-77375655-C-T p.Arg552Arg synonymous ADAMTS18 6 83190 7.21241E-5 41595 0 1.27478E-4
16-77375665-A-G p.Val549Ala missense ADAMTS18 32 83162 3.84791E-4 41581 0 0.0015614
16-77375668-C-T p.Arg548Gln missense ADAMTS18 2 83136 2.4057E-5 41568 0 7.99463E-5
16-77375671-T-A p.His547Leu missense ADAMTS18 4 83140 4.81116E-5 41570 0 1.83824E-5
16-77375679-A-C p.Leu544Leu synonymous ADAMTS18 49 83120 5.89509E-4 41560 1 0.0016851
16-77375695-T-C p.Asp539Gly missense+splice_region ADAMTS18 1 82812 1.20755E-5 41406 0 1.05033E-5
16-77375696-C-T p.Asp539Asn missense+splice_region ADAMTS18 1 82814 1.20753E-5 41407 0 4.12875E-6
16-77375699-GAAAT-G c.1615-7_1615-4delATTT splice_region ADAMTS18 2 82702 2.41832E-5 41351 0 1.10939E-5
16-77375700-A-G c.1615-4T>C splice_region ADAMTS18 3 82774 3.62433E-5 41387 0 3.20739E-5
16-77375703-TA-T c.1615-8delT splice_region ADAMTS18 2941 82462 0.0356649 41231 116 0.058038
16-77375703-T-A c.1615-7A>T splice_region ADAMTS18 6 82458 7.27643E-5 41229 0 0.00268954
16-77375703-T-TA c.1615-8_1615-7insT splice_region ADAMTS18 4 82556 4.8452E-5 41278 0 7.78528E-4
16-77375704-A-T c.1615-8T>A splice_region ADAMTS18 1 82448 1.21289E-5 41224 0 1.70469E-4
16-77387626-A-G c.1614+4T>C splice_region ADAMTS18 1 83346 1.19982E-5 41673 0 NA
16-77387627-T-A c.1614+3A>T splice_region ADAMTS18 2 83344 2.39969E-5 41672 0 NA
16-77387631-T-C p.Lys538Arg missense+splice_region ADAMTS18 1 83346 1.19982E-5 41673 0 3.1841E-5
16-77387646-C-G p.Ser533Thr missense ADAMTS18 1 83366 1.19953E-5 41683 0 7.15791E-5
16-77387653-A-G p.Leu531Leu synonymous ADAMTS18 5 83370 5.99736E-5 41685 0 9.55414E-5
16-77387662-T-C p.Lys528Glu missense ADAMTS18 1 83378 1.19936E-5 41689 0 NA
16-77387665-C-T p.Ala527Thr missense ADAMTS18 1 83380 1.19933E-5 41690 0 1.64731E-5
16-77387672-T-C p.Gln524Gln synonymous ADAMTS18 3 83388 3.59764E-5 41694 0 1.64728E-5
16-77387683-A-T p.Cys521Ser missense ADAMTS18 2 83394 2.39825E-5 41697 0 NA
16-77387690-G-C p.Asp518Glu missense ADAMTS18 1 83390 1.19918E-5 41695 0 8.23655E-6
16-77387698-C-G p.Asp516His missense ADAMTS18 2 83384 2.39854E-5 41692 0 NA
16-77387699-A-G p.Tyr515Tyr synonymous ADAMTS18 17 83382 2.03881E-4 41691 0 1.6303E-4
16-77387709-C-G p.Gly512Ala missense ADAMTS18 1 83386 1.19924E-5 41693 0 NA
16-77387712-G-A p.Pro511Leu missense ADAMTS18 3 83390 3.59755E-5 41695 0 3.18674E-5
16-77387720-G-A p.Asp508Asp synonymous ADAMTS18 1 83390 1.19918E-5 41695 0 NA
16-77387723-C-T p.Pro507Pro synonymous ADAMTS18 4 83390 4.79674E-5 41695 0 1.8121E-4
16-77387723-C-G p.Pro507Pro synonymous ADAMTS18 1 83390 1.19918E-5 41695 0 1.9882E-5
16-77387724-G-A p.Pro507Leu missense ADAMTS18 2 83388 2.39843E-5 41694 0 5.03525E-4
16-77387725-G-C p.Pro507Ala missense ADAMTS18 2 83390 2.39837E-5 41695 0 3.18512E-5
16-77387726-A-G p.Tyr506Tyr synonymous ADAMTS18 2 83386 2.39848E-5 41693 0 1.64731E-5
16-77387732-A-G p.Tyr504Tyr synonymous ADAMTS18 9 83388 1.07929E-4 41694 0 2.5481E-4
16-77387736-T-C p.Gln503Arg missense ADAMTS18 18 83380 2.15879E-4 41690 0 9.8837E-5
16-77387741-T-A p.Ala501Ala synonymous ADAMTS18 1 83376 1.19939E-5 41688 0 1.98821E-5
16-77387747-C-T p.Lys499Lys synonymous ADAMTS18 2 83372 2.39889E-5 41686 0 8.23642E-6
16-77387748-T-C p.Lys499Arg missense ADAMTS18 22 83372 2.63878E-4 41686 0 0.00101878
16-77387752-G-A p.Pro498Ser missense ADAMTS18 2 83368 2.399E-5 41684 0 3.18512E-5
16-77387752-G-T p.Pro498Thr missense ADAMTS18 2 83368 2.399E-5 41684 0 1.19295E-5
16-77387767-A-G p.Cys493Arg missense ADAMTS18 1 83352 1.19973E-5 41676 0 NA
16-77387771-C-T p.Ala491Ala synonymous ADAMTS18 4 83348 4.79916E-5 41674 0 6.25E-4
16-77387780-T-G p.Thr488Thr synonymous ADAMTS18 13 83330 1.56006E-4 41665 0 8.43083E-4
16-77389829-T-C c.1460+8A>G splice_region ADAMTS18 2 82962 2.41074E-5 41481 0 NA
16-77389830-G-C c.1460+7C>G splice_region ADAMTS18 2 82982 2.41016E-5 41491 0 3.18492E-5
16-77389842-G-A p.Phe485Phe synonymous ADAMTS18 1 83104 1.20331E-5 41552 0 3.18492E-5
16-77389861-C-T p.Arg479His missense ADAMTS18 2 83212 2.4035E-5 41606 0 1.19347E-5
16-77389869-G-T p.Ser476Ser synonymous ADAMTS18 2 83236 2.40281E-5 41618 0 8.23696E-6
16-77389871-A-T p.Ser476Thr missense ADAMTS18 1 83242 1.20132E-5 41621 0 NA
16-77389878-T-C p.Ser473Ser synonymous ADAMTS18 1 83262 1.20103E-5 41631 0 8.23682E-5
16-77389881-A-G p.Phe472Phe synonymous ADAMTS18 1 83276 1.20083E-5 41638 0 NA
16-77389882-A-G p.Phe472Ser missense ADAMTS18 2 83276 2.40165E-5 41638 0 3.97709E-6
16-77389890-A-C p.Asn469Lys missense ADAMTS18 1 83294 1.20057E-5 41647 0 NA
16-77389891-T-C p.Asn469Ser missense ADAMTS18 3 83302 3.60135E-5 41651 0 1.27397E-4
16-77389892-T-C p.Asn469Asp missense ADAMTS18 1 83296 1.20054E-5 41648 0 NA
16-77389894-T-C p.Asn468Ser missense ADAMTS18 1 83302 1.20045E-5 41651 0 NA
16-77389898-C-A p.Gly467* stop_gained ADAMTS18 1 83302 1.20045E-5 41651 0 0.00151057
16-77389899-G-A p.Thr466Thr synonymous ADAMTS18 7 83302 8.40316E-5 41651 0 3.18613E-5
16-77389905-T-C p.Thr464Thr synonymous ADAMTS18 2 83300 2.40096E-5 41650 0 NA
16-77389923-G-C p.Gly458Gly synonymous ADAMTS18 1 83322 1.20016E-5 41661 0 3.97668E-6
16-77389928-C-T p.Glu457Lys missense ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77389933-T-G p.Lys455Thr missense ADAMTS18 1 83334 1.19999E-5 41667 0 1.19301E-5
16-77389934-T-C p.Lys455Glu missense ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77389954-C-A p.Gly448Val missense ADAMTS18 1 83336 1.19996E-5 41668 0 NA
16-77389955-C-A p.Gly448* stop_gained ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77389956-A-G p.Asp447Asp synonymous ADAMTS18 72272 82966 0.871104 41483 31540 0.864268
16-77389968-AC-A p.Gly443fs frameshift ADAMTS18 7 83326 8.40074E-5 41663 0 3.18471E-5
16-77389969-C-G p.Gly443Ala missense ADAMTS18 1 83322 1.20016E-5 41661 0 NA
16-77393207-G-C c.1322+8C>G splice_region ADAMTS18 45253 81702 0.553879 40851 12907 0.546845
16-77393223-T-C p.Ser438Ser synonymous ADAMTS18 7 83214 8.41205E-5 41607 0 5.09347E-5
16-77393235-G-A p.Ile434Ile synonymous ADAMTS18 1 83260 1.20106E-5 41630 0 0.00125
16-77393250-G-A p.Gly429Gly synonymous ADAMTS18 1 83286 1.20068E-5 41643 0 8.40548E-6
16-77393251-C-T p.Gly429Asp missense ADAMTS18 1 83280 1.20077E-5 41640 0 3.97924E-6
16-77393269-T-C p.Asn423Ser missense ADAMTS18 1 83306 1.20039E-5 41653 0 2.38738E-5
16-77393271-G-A p.Ile422Ile synonymous ADAMTS18 1 83302 1.20045E-5 41651 0 2.53041E-5
16-77393281-C-G p.Ser419Thr missense ADAMTS18 2 83306 2.40079E-5 41653 0 1.70025E-5
16-77393284-C-A p.Arg418Leu missense ADAMTS18 1 83308 1.20036E-5 41654 0 NA
16-77393285-G-A p.Arg418* stop_gained ADAMTS18 1 83300 1.20048E-5 41650 0 8.53767E-6
16-77393293-G-A p.Ser415Phe missense ADAMTS18 1 83296 1.20054E-5 41648 0 NA
16-77393295-G-A p.Cys414Cys synonymous ADAMTS18 1 83300 1.20048E-5 41650 0 3.18532E-5
16-77393302-C-G p.Gly412Ala missense ADAMTS18 1 83256 1.20111E-5 41628 0 3.98651E-6
16-77393307-G-A p.Ile410Ile synonymous ADAMTS18 1 83234 1.20143E-5 41617 0 3.98982E-6
16-77393309-T-C p.Ile410Val missense ADAMTS18 1 83220 1.20163E-5 41610 0 1.7933E-5
16-77393313-G-A p.Ala408Ala synonymous ADAMTS18 5 83208 6.00904E-5 41604 1 NA
16-77393315-C-T p.Ala408Thr missense ADAMTS18 1 83204 1.20187E-5 41602 0 NA
16-77393325-T-C c.1217-5A>G splice_region ADAMTS18 6 83144 7.2164E-5 41572 0 1.59307E-4
16-77396005-G-C p.Leu405Val missense ADAMTS18 7 83278 8.40558E-5 41639 0 0.00100705
16-77396007-G-A p.Thr404Ile missense ADAMTS18 8 83290 9.60499E-5 41645 0 9.94645E-5
16-77396009-G-A p.Asp403Asp synonymous ADAMTS18 1 83286 1.20068E-5 41643 0 NA
16-77396012-A-G p.Cys402Cys synonymous ADAMTS18 1 83290 1.20062E-5 41645 0 3.18451E-5
16-77396028-C-G p.Trp397Ser missense ADAMTS18 1 83282 1.20074E-5 41641 0 NA
16-77396031-G-T p.Ser396Tyr missense ADAMTS18 2 83278 2.40159E-5 41639 0 3.18431E-5
16-77396035-A-C p.Cys395Gly missense ADAMTS18 1 83278 1.2008E-5 41639 0 3.18492E-5
16-77396044-A-C p.Phe392Val missense ADAMTS18 7 83266 8.40679E-5 41633 0 6.36943E-5
16-77396062-C-T p.Ala386Thr missense ADAMTS18 1 83250 1.2012E-5 41625 0 NA
16-77396070-T-C p.His383Arg missense ADAMTS18 1 83256 1.20111E-5 41628 0 8.25001E-6
16-77396073-C-T p.Arg382Lys missense ADAMTS18 28 83242 3.36369E-4 41621 0 5.03525E-4
16-77396076-T-C p.Lys381Arg missense ADAMTS18 1 83236 1.2014E-5 41618 0 7.95697E-6
16-77396080-C-T p.Gly380Ser missense ADAMTS18 2 83238 2.40275E-5 41619 0 3.18573E-5
16-77396083-T-G p.Asn379His missense ADAMTS18 8 83236 9.61123E-5 41618 0 6.59935E-5
16-77396097-G-A p.Ala374Val missense ADAMTS18 2 83216 2.40338E-5 41608 0 NA
16-77396097-G-T p.Ala374Asp missense ADAMTS18 1 83216 1.20169E-5 41608 0 3.18431E-5
16-77396122-T-A p.Asn366Tyr missense ADAMTS18 1 83194 1.20201E-5 41597 0 3.97845E-6
16-77396124-A-G p.Leu365Pro missense ADAMTS18 1 83182 1.20218E-5 41591 0 NA
16-77396130-T-C p.Gln363Arg missense ADAMTS18 2 83144 2.40547E-5 41572 0 1.19362E-5
16-77396131-G-T p.Gln363Lys missense ADAMTS18 1 83134 1.20288E-5 41567 0 NA
16-77396132-G-C p.Asp362Glu missense ADAMTS18 2 83134 2.40575E-5 41567 0 NA
16-77396134-C-T p.Asp362Asn missense ADAMTS18 1 83128 1.20296E-5 41564 0 NA
16-77396138-A-G p.His360His synonymous ADAMTS18 2 83110 2.40645E-5 41555 0 8.24987E-6
16-77396139-T-C p.His360Arg missense ADAMTS18 2 83104 2.40662E-5 41552 0 8.24974E-6
16-77396145-T-G p.Asn358Thr missense ADAMTS18 3 83074 3.61124E-5 41537 0 4.78587E-4
16-77396152-A-G p.Leu356Leu synonymous ADAMTS18 7 83040 8.42967E-5 41520 0 3.1837E-5
16-77396164-A-G c.1057-3T>C splice_region ADAMTS18 9 82918 1.08541E-4 41459 0 3.55266E-4
16-77397701-G-A p.Pro352Ser missense+splice_region ADAMTS18 1 82844 1.20709E-5 41422 0 2.38749E-5
16-77397702-T-C p.Glu351Glu synonymous ADAMTS18 1 82856 1.20691E-5 41428 0 1.19375E-5
16-77397706-T-C p.Gln350Arg missense ADAMTS18 2 82864 2.41359E-5 41432 0 3.97915E-6
16-77397706-T-A p.Gln350Leu missense ADAMTS18 1 82864 1.2068E-5 41432 0 3.18634E-5
16-77397710-C-G p.Glu349Gln missense ADAMTS18 2 82906 2.41237E-5 41453 0 NA
16-77397710-C-T p.Glu349Lys missense ADAMTS18 1 82906 1.20619E-5 41453 0 NA
16-77397714-A-T p.Leu347Leu synonymous ADAMTS18 1 82944 1.20563E-5 41472 0 5.03525E-4
16-77397718-A-G p.Ile346Thr missense ADAMTS18 1 82960 1.2054E-5 41480 0 8.25355E-6
16-77397722-G-A p.Leu345Leu synonymous ADAMTS18 2 82956 2.41092E-5 41478 0 3.58081E-5
16-77397737-C-T p.Val340Met missense ADAMTS18 3 82994 3.61472E-5 41497 0 3.18512E-5
16-77397738-G-A p.Asn339Asn synonymous ADAMTS18 7 83006 8.43313E-5 41503 0 6.25E-4
16-77397743-T-A p.Ile338Leu missense ADAMTS18 3 83026 3.61333E-5 41513 0 NA
16-77397755-T-A p.Ile334Phe missense ADAMTS18 1 83010 1.20467E-5 41505 0 3.97877E-6
16-77397759-C-G p.Gly332Gly synonymous ADAMTS18 1 83022 1.2045E-5 41511 0 3.18532E-5
16-77397763-T-A p.Asp331Val missense ADAMTS18 1 83012 1.20465E-5 41506 0 NA
16-77397764-C-G p.Asp331His missense ADAMTS18 1 83018 1.20456E-5 41509 0 NA
16-77397771-T-C p.Leu328Leu synonymous ADAMTS18 1 82992 1.20494E-5 41496 0 7.9595E-6
16-77397773-G-A p.Leu328Leu synonymous ADAMTS18 3 82990 3.61489E-5 41495 0 8.26487E-6
16-77397774-G-T p.Gly327Gly synonymous ADAMTS18 1 82986 1.20502E-5 41493 0 3.18532E-5
16-77397789-G-T c.973-7C>A splice_region ADAMTS18 1 82936 1.20575E-5 41468 0 NA
16-77398078-C-T c.972+7G>A splice_region ADAMTS18 6 83210 7.21067E-5 41605 0 3.18532E-5
16-77398079-G-A c.972+6C>T splice_region ADAMTS18 2 83222 2.40321E-5 41611 0 1.98946E-5
16-77398081-T-C c.972+4A>G splice_region ADAMTS18 32920 82114 0.400906 41057 6941 0.372767
16-77398083-A-G c.972+2T>C splice_donor ADAMTS18 1 83244 1.20129E-5 41622 0 NA
16-77398096-C-T p.Val321Ile missense ADAMTS18 3 83270 3.60274E-5 41635 0 3.97741E-6
16-77398111-T-G p.Thr316Pro missense ADAMTS18 2 83284 2.40142E-5 41642 0 8.23723E-6
16-77398113-G-A p.Thr315Ile missense ADAMTS18 3 83288 3.60196E-5 41644 0 5.1703E-5
16-77398121-T-C p.Gly312Gly synonymous ADAMTS18 29 83288 3.48189E-4 41644 0 2.46562E-4
16-77398133-C-T p.Lys308Lys synonymous ADAMTS18 2 83296 2.40108E-5 41648 0 3.97716E-6
16-77398140-AC-A p.Val306fs frameshift ADAMTS18 1 83308 1.20036E-5 41654 0 3.97719E-6
16-77398161-A-G p.Val299Ala missense ADAMTS18 1 83328 1.20008E-5 41664 0 NA
16-77398162-C-T p.Val299Met missense ADAMTS18 4 83330 4.80019E-5 41665 0 6.59076E-5
16-77398163-G-A p.Leu298Leu synonymous ADAMTS18 4 83328 4.80031E-5 41664 0 6.25E-4
16-77398169-T-TTC p.Thr297fs frameshift ADAMTS18 1 83332 1.20002E-5 41666 0 NA
16-77398176-T-C p.Asn294Ser missense ADAMTS18 1 83328 1.20008E-5 41664 0 1.64788E-5
16-77398182-C-T p.Gly292Asp missense ADAMTS18 6 83328 7.20046E-5 41664 0 3.29587E-4
16-77398186-T-C p.Lys291Glu missense ADAMTS18 1 83326 1.20011E-5 41663 0 NA
16-77398189-G-T p.Gln290Lys missense ADAMTS18 2 83328 2.40015E-5 41664 0 6.3743E-5
16-77398190-T-C p.Ser289Ser synonymous ADAMTS18 1 83326 1.20011E-5 41663 0 3.97807E-6
16-77398201-C-A p.Ala286Ser missense ADAMTS18 1 83302 1.20045E-5 41651 0 1.59165E-5
16-77398212-G-C p.Pro282Arg missense ADAMTS18 7 83276 8.40578E-5 41638 0 0.00100705
16-77398216-G-A p.Arg281* stop_gained ADAMTS18 1 83274 1.20085E-5 41637 0 8.25232E-6
16-77398223-G-A p.Ser278Ser synonymous ADAMTS18 3 83254 3.60343E-5 41627 0 1.59207E-4
16-77398242-C-T p.Arg272Lys missense ADAMTS18 1 83178 1.20224E-5 41589 0 NA
16-77398244-T-G p.Lys273Gln missense ADAMTS18 17 83168 2.04406E-4 41584 0 1.35346E-4
16-77398244-T-C p.Lys273Glu missense ADAMTS18 1 83168 1.20239E-5 41584 0 NA
16-77398245-A-C p.Leu271Arg missense ADAMTS18 1 83162 1.20247E-5 41581 0 NA
16-77398248-T-C p.Tyr270Cys missense ADAMTS18 4 83148 4.8107E-5 41574 0 7.96261E-6
16-77398250-G-C p.Leu271Val missense ADAMTS18 1 83126 1.20299E-5 41563 0 3.98178E-6
16-77398263-G-A p.Pro265Leu missense ADAMTS18 7 82958 8.438E-5 41479 0 6.37592E-5
16-77398266-G-A p.Pro264Leu missense ADAMTS18 1 82912 1.2061E-5 41456 0 7.56226E-5
16-77398269-T-C p.Lys263Arg missense ADAMTS18 1 82876 1.20662E-5 41438 0 NA
16-77398278-T-C p.Tyr260Cys missense+splice_region ADAMTS18 1 82700 1.20919E-5 41350 0 3.98972E-6
16-77398282-C-T c.779-4G>A splice_region ADAMTS18 39 82624 4.72018E-4 41312 0 6.25E-4
16-77398283-G-A c.779-5C>T splice_region ADAMTS18 2 82588 2.42166E-5 41294 0 1.19875E-5
16-77398284-A-G c.779-6T>C splice_region ADAMTS18 3 82564 3.63354E-5 41282 0 7.98907E-6
16-77398284-A-T c.779-6T>A splice_region ADAMTS18 2 82564 2.42236E-5 41282 0 1.19836E-5
16-77401346-C-T p.Arg257His missense ADAMTS18 1 83110 1.20322E-5 41555 0 7.95811E-6
16-77401349-C-T p.Arg256Gln missense ADAMTS18 3 83144 3.6082E-5 41572 0 3.18451E-5
16-77401359-A-C p.Phe253Val missense ADAMTS18 7 83182 8.41528E-5 41591 0 1.89516E-4
16-77401374-A-C p.Leu248Val missense ADAMTS18 1 83204 1.20187E-5 41602 0 3.97807E-6
16-77401374-A-G p.Leu248Leu synonymous ADAMTS18 1 83204 1.20187E-5 41602 0 3.18431E-5
16-77401375-C-A p.Arg247Ser missense ADAMTS18 4 83206 4.80735E-5 41603 0 2.78465E-5
16-77401377-T-C p.Arg247Gly missense ADAMTS18 2 83208 2.40361E-5 41604 0 4.94356E-5
16-77401379-C-T p.Arg246Gln missense ADAMTS18 1 83212 1.20175E-5 41606 0 6.3678E-5
16-77401380-G-A p.Arg246* stop_gained ADAMTS18 1 83208 1.20181E-5 41604 0 NA
16-77401395-T-C p.Thr241Ala missense ADAMTS18 1 83228 1.20152E-5 41614 0 3.97836E-5
16-77401400-C-T p.Arg239Gln missense ADAMTS18 1 83228 1.20152E-5 41614 0 1.1936E-5
16-77401401-G-T p.Arg239Arg synonymous ADAMTS18 1 83224 1.20158E-5 41612 0 5.03525E-4
16-77401401-G-A p.Arg239* stop_gained ADAMTS18 1 83224 1.20158E-5 41612 0 NA
16-77401406-T-A p.Gln237Leu missense ADAMTS18 1 83216 1.20169E-5 41608 0 NA
16-77401407-G-C p.Gln237Glu missense ADAMTS18 1 83216 1.20169E-5 41608 0 NA
16-77401415-T-G p.His234Pro missense ADAMTS18 1 83202 1.20189E-5 41601 0 NA
16-77401424-T-G p.His231Pro missense ADAMTS18 4 83204 4.80746E-5 41602 0 1.91046E-4
16-77401425-G-A p.His231Tyr missense ADAMTS18 14 83206 1.68257E-4 41603 0 4.17744E-4
16-77401428-T-C p.Ser230Gly missense ADAMTS18 1 83196 1.20198E-5 41598 0 0.00100705
16-77401431-G-C p.Pro229Ala missense ADAMTS18 1 83192 1.20204E-5 41596 0 3.97839E-6
16-77401433-G-T p.Ser228Tyr missense ADAMTS18 4 83188 4.80839E-5 41594 0 2.22902E-4
16-77401433-G-A p.Ser228Phe missense ADAMTS18 1 83188 1.2021E-5 41594 0 3.97852E-6
16-77401440-C-T p.Gly226Ser missense ADAMTS18 1 83184 1.20215E-5 41592 0 8.23954E-6
16-77401442-G-C p.Pro225Arg missense ADAMTS18 1 83188 1.2021E-5 41594 0 3.18431E-5
16-77401452-G-A p.Arg222Trp missense ADAMTS18 8 83152 9.62094E-5 41576 0 1.0345E-4
16-77401452-G-T p.Arg222Arg synonymous ADAMTS18 1 83152 1.20262E-5 41576 0 4.94389E-5
16-77401457-G-A p.Ser220Phe missense ADAMTS18 1 83164 1.20244E-5 41582 0 5.03525E-4
16-77401461-C-T p.Gly219Ser missense ADAMTS18 4 83174 4.8092E-5 41587 0 1.27421E-4
16-77401462-G-T p.Pro218Pro synonymous ADAMTS18 6 83180 7.21327E-5 41590 0 4.94397E-5
16-77401462-G-A p.Pro218Pro synonymous ADAMTS18 2 83180 2.40442E-5 41590 0 7.95659E-6
16-77401463-G-C p.Pro218Arg missense ADAMTS18 17 83182 2.04371E-4 41591 0 3.22234E-4
16-77401463-G-T p.Pro218His missense ADAMTS18 3 83182 3.60655E-5 41591 0 1.19346E-5
16-77401464-G-A p.Pro218Ser missense ADAMTS18 2 83178 2.40448E-5 41589 0 NA
16-77401472-C-T p.Arg215His missense ADAMTS18 1 83184 1.20215E-5 41592 0 3.18451E-5
16-77401473-G-C p.Arg215Gly missense ADAMTS18 6 83186 7.21275E-5 41593 0 NA
16-77401473-G-A p.Arg215Cys missense ADAMTS18 2 83186 2.40425E-5 41593 0 4.1195E-5
16-77401474-G-A p.Tyr214Tyr synonymous ADAMTS18 1 83186 1.20213E-5 41593 0 NA
16-77401478-C-T p.Arg213Gln missense ADAMTS18 4 83204 4.80746E-5 41602 0 9.55414E-5
16-77401479-G-A p.Arg213Trp missense ADAMTS18 568 83196 0.00682725 41598 0 0.00664096
16-77401483-G-C p.Ile211Met missense ADAMTS18 2 83220 2.40327E-5 41610 0 NA
16-77401483-G-T p.Ile211Ile synonymous ADAMTS18 1 83220 1.20163E-5 41610 0 NA
16-77401486-C-A p.Lys210Asn missense ADAMTS18 1 83236 1.2014E-5 41618 0 NA
16-77401490-T-C p.Glu209Gly missense ADAMTS18 1 83248 1.20123E-5 41624 0 6.36821E-5
16-77401497-C-T p.Ala207Thr missense ADAMTS18 6 83272 7.2053E-5 41636 0 6.59098E-5
16-77401515-C-T p.Val201Ile missense ADAMTS18 209 83284 0.00250949 41642 0 0.00515989
16-77401515-C-A p.Val201Leu missense ADAMTS18 2 83290 2.40125E-5 41645 0 NA
16-77401516-G-A p.His200His synonymous ADAMTS18 11 83296 1.32059E-4 41648 0 1.94915E-4
16-77401531-C-T p.Ala195Ala synonymous ADAMTS18 5 83294 6.00283E-5 41647 0 6.36862E-5
16-77401531-C-A p.Ala195Ala synonymous ADAMTS18 1 83294 1.20057E-5 41647 0 NA
16-77401532-G-A p.Ala195Val missense ADAMTS18 5 83298 6.00254E-5 41649 0 5.03525E-4
16-77401533-C-T p.Ala195Thr missense ADAMTS18 2 83298 2.40102E-5 41649 0 5.03525E-4
16-77401536-G-A p.Pro194Ser missense ADAMTS18 1 83298 1.20051E-5 41649 0 5.03525E-4
16-77401543-G-A p.Tyr191Tyr synonymous ADAMTS18 4 83304 4.80169E-5 41652 0 2.54554E-4
16-77401545-A-G p.Tyr191His missense ADAMTS18 23423 83082 0.281926 41541 3626 0.326424
16-77401547-T-C p.Asn190Ser missense ADAMTS18 6 83308 7.20219E-5 41654 0 9.55353E-5
16-77401549-G-T p.His189Gln missense ADAMTS18 1 83308 1.20036E-5 41654 0 3.97744E-6
16-77401554-C-T p.Glu188Lys missense ADAMTS18 90 83310 0.0010803 41655 1 0.005625
16-77401555-C-T p.Gln187Gln synonymous ADAMTS18 1 83312 1.20031E-5 41656 0 0.00125
16-77401566-G-T p.Leu98Ile missense+splice_region ADAMTS18 1 83294 1.20057E-5 41647 0 8.23818E-6
16-77401569-G-A p.Gln183* stop_gained ADAMTS18 1 83288 1.20065E-5 41644 0 NA
16-77401579-C-T p.Ser179Ser synonymous ADAMTS18 2 83266 2.40194E-5 41633 0 1.64775E-5
16-77401598-T-A p.Lys173Ile missense ADAMTS18 1 83176 1.20227E-5 41588 0 NA
16-77401599-T-C p.Lys173Glu missense ADAMTS18 2 83176 2.40454E-5 41588 0 3.18613E-4
16-77401601-C-T p.Arg172Gln missense ADAMTS18 1 83154 1.20259E-5 41577 0 1.19402E-5
16-77401609-T-C p.Ile169Met missense ADAMTS18 1 83098 1.2034E-5 41549 0 NA
16-77401614-A-C p.Leu168Val missense ADAMTS18 4 83040 4.81696E-5 41520 0 3.98318E-6
16-77465188-T-C c.495+4A>G splice_region ADAMTS18 2 83272 2.40177E-5 41636 0 3.18634E-5
16-77465204-C-T p.Thr161Thr synonymous ADAMTS18 14 83302 1.68063E-4 41651 0 5.41677E-4
16-77465205-G-A p.Thr161Met missense ADAMTS18 4 83306 4.80158E-5 41653 0 3.18634E-5
16-77465215-C-T p.Ala158Thr missense ADAMTS18 1 83312 1.20031E-5 41656 0 3.18573E-5
16-77465216-G-A p.Val157Val synonymous ADAMTS18 9 83308 1.08033E-4 41654 0 5.03525E-4
16-77465218-C-T p.Val157Ile missense ADAMTS18 1 83318 1.20022E-5 41659 0 3.18532E-5
16-77465220-G-C p.Ser156Cys missense ADAMTS18 1 83314 1.20028E-5 41657 0 NA
16-77465220-G-T p.Ser156Tyr missense ADAMTS18 1 83314 1.20028E-5 41657 0 3.18552E-5
16-77465220-G-A p.Ser156Phe missense ADAMTS18 1 83314 1.20028E-5 41657 0 3.18552E-5
16-77465229-C-A p.Ser153Ile missense ADAMTS18 1 83316 1.20025E-5 41658 0 3.97687E-6
16-77465236-T-G p.Asn151His missense ADAMTS18 2 83320 2.40038E-5 41660 0 NA
16-77465246-T-A p.Gly147Gly synonymous ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77465246-T-C p.Gly147Gly synonymous ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77465249-C-G p.Gln146His missense ADAMTS18 192 83334 0.00230398 41667 0 0.005625
16-77465253-T-A p.Tyr145Phe missense ADAMTS18 1 83342 1.19988E-5 41671 0 NA
16-77465264-C-T p.Gln141Gln synonymous ADAMTS18 2 83334 2.39998E-5 41667 0 NA
16-77465273-G-A p.Pro138Pro synonymous ADAMTS18 1 83330 1.20005E-5 41665 0 1.64734E-5
16-77465274-G-A p.Pro138Leu missense ADAMTS18 1 83332 1.20002E-5 41666 0 8.23669E-6
16-77465277-T-C p.Lys137Arg missense ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77465277-TTC-T p.Lys137fs frameshift ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77465281-G-C p.Gln136Glu missense ADAMTS18 1 83328 1.20008E-5 41664 0 1.64739E-5
16-77465288-T-A p.Ser133Ser synonymous ADAMTS18 1 83326 1.20011E-5 41663 0 8.23723E-6
16-77465298-T-A p.Asp130Val missense ADAMTS18 1 83332 1.20002E-5 41666 0 NA
16-77465300-T-C p.Lys129Lys synonymous ADAMTS18 3 83336 3.59988E-5 41668 0 1.19287E-5
16-77465301-T-C p.Lys129Arg missense ADAMTS18 4 83338 4.79973E-5 41669 0 0.00151057
16-77465303-T-C p.Gly128Gly synonymous ADAMTS18 1 83334 1.19999E-5 41667 0 NA
16-77465306-A-T p.Leu127Leu synonymous ADAMTS18 4 83326 4.80042E-5 41663 1 7.55527E-5
16-77465312-C-A p.Gln125His missense ADAMTS18 3 83322 3.60049E-5 41661 0 2.47133E-5
16-77465315-G-A p.Val124Val synonymous ADAMTS18 1 83320 1.20019E-5 41660 0 7.95292E-6
16-77465327-ACTG-A p.Ser120del disruptive_inframe_deletion ADAMTS18 1 83322 1.20016E-5 41661 0 NA
16-77465333-C-G p.Leu118Phe missense ADAMTS18 2 83308 2.40073E-5 41654 0 1.98821E-5
16-77465339-C-T p.Ala116Ala synonymous ADAMTS18 3 83312 3.60092E-5 41656 1 3.18532E-5
16-77465340-G-A p.Ala116Val missense ADAMTS18 3 83306 3.60118E-5 41653 0 NA
16-77465342-C-G p.Ser115Ser synonymous ADAMTS18 1 83310 1.20034E-5 41655 0 8.24076E-6
16-77465343-G-A p.Ser115Leu missense ADAMTS18 2 83308 2.40073E-5 41654 0 8.2409E-6
16-77465347-G-T p.Pro114Thr missense ADAMTS18 36 83300 4.32173E-4 41650 0 7.64185E-4
16-77465348-C-T p.Lys113Lys synonymous ADAMTS18 1 83298 1.20051E-5 41649 0 3.97652E-6
16-77465356-C-A p.Glu111* stop_gained ADAMTS18 1 83284 1.20071E-5 41642 0 NA
16-77465357-T-C p.Leu110Leu synonymous ADAMTS18 1 83286 1.20068E-5 41643 0 NA
16-77465360-G-A p.His109His synonymous ADAMTS18 2 83282 2.40148E-5 41641 0 NA
16-77465361-T-C p.His109Arg missense ADAMTS18 1 83280 1.20077E-5 41640 0 8.24226E-6
16-77465367-TC-T p.Glu107fs frameshift ADAMTS18 1 83258 1.20109E-5 41629 0 NA
16-77465370-T-G p.Gln106Pro missense ADAMTS18 2 83254 2.40229E-5 41627 0 1.64867E-5
16-77465370-T-C p.Gln106Arg missense ADAMTS18 3 83254 3.60343E-5 41627 0 3.1841E-5
16-77465372-T-C p.Gly105Gly synonymous ADAMTS18 2 83256 2.40223E-5 41628 0 NA
16-77465387-T-A p.Arg100Arg synonymous ADAMTS18 1 83222 1.20161E-5 41611 0 NA
16-77465393-G-C p.His98Gln missense ADAMTS18 2 83216 2.40338E-5 41608 0 NA
16-77465398-G-A p.Leu97Leu synonymous ADAMTS18 1 83198 1.20195E-5 41599 0 8.24851E-6
16-77465400-G-A p.Ser96Phe missense ADAMTS18 1 83200 1.20192E-5 41600 0 NA
16-77465410-C-T p.Ala93Thr missense ADAMTS18 4 83190 4.80827E-5 41595 0 3.97893E-6
16-77465416-G-C p.Gln91Glu missense ADAMTS18 1 83180 1.20221E-5 41590 0 NA
16-77465417-C-T p.Ala90Ala synonymous ADAMTS18 46 83170 5.53084E-4 41585 0 9.23685E-4
16-77465421-G-A p.Ser89Leu missense ADAMTS18 1 83168 1.20239E-5 41584 0 3.97969E-6
16-77465431-T-C p.Lys86Glu missense ADAMTS18 1 83214 1.20172E-5 41607 0 0.00251762
16-77465435-G-A p.Gly84Gly synonymous ADAMTS18 2 83224 2.40315E-5 41612 0 3.18674E-5
16-77465436-C-A p.Gly84Val missense ADAMTS18 2 83222 2.40321E-5 41611 0 2.78503E-5
16-77465445-A-C p.Leu81Trp missense ADAMTS18 2 83234 2.40286E-5 41617 0 6.36902E-5
16-77465452-C-T p.Asp79Asn missense ADAMTS18 2 83228 2.40304E-5 41614 0 4.12882E-5
16-77465456-T-C p.Ser77Ser synonymous ADAMTS18 3 83224 3.60473E-5 41612 0 NA
16-77465468-C-G p.Gly73Gly synonymous ADAMTS18 1 83224 1.20158E-5 41612 0 NA
16-77465470-C-T p.Gly73Arg missense ADAMTS18 1 83212 1.20175E-5 41606 0 4.37734E-5
16-77465471-G-C p.Ala72Ala synonymous ADAMTS18 115 83216 0.00138195 41608 0 0.00352467
16-77465471-G-A p.Ala72Ala synonymous ADAMTS18 2 83220 2.40327E-5 41610 0 2.78578E-5
16-77465472-G-A p.Ala72Val missense ADAMTS18 1 83228 1.20152E-5 41614 0 NA
16-77465474-T-C p.Ser71Ser synonymous ADAMTS18 2 83228 2.40304E-5 41614 0 NA
16-77465475-G-A p.Ser71Leu missense ADAMTS18 1 83218 1.20166E-5 41609 0 NA
16-77465475-G-C p.Ser71* stop_gained ADAMTS18 1 83218 1.20166E-5 41609 0 NA
16-77465484-T-G p.Glu68Ala missense ADAMTS18 1 83196 1.20198E-5 41598 0 NA
16-77465492-C-T p.Thr65Thr synonymous ADAMTS18 1 83160 1.2025E-5 41580 0 3.18532E-5
16-77465502-A-G p.Val62Ala missense ADAMTS18 1 83124 1.20302E-5 41562 0 3.18431E-5
16-77465503-C-T p.Val62Ile missense ADAMTS18 8 83130 9.62348E-5 41565 0 4.45775E-4
16-77468313-A-G c.178+2T>C splice_donor ADAMTS18 1 80292 1.24545E-5 40146 0 5.44087E-6
16-77468321-T-G p.Asn58His missense ADAMTS18 1 80496 1.2423E-5 40248 0 NA
16-77468322-T-C p.Leu57Leu synonymous ADAMTS18 1 80484 1.24248E-5 40242 0 NA
16-77468327-C-T p.Gly56Arg missense ADAMTS18 1 80538 1.24165E-5 40269 0 0.00101729
16-77468336-C-G p.Gly53Arg missense ADAMTS18 1 80564 1.24125E-5 40282 0 5.28463E-6
16-77468339-T-G p.Ser52Arg missense ADAMTS18 1 80614 1.24048E-5 40307 0 NA
16-77468346-G-A p.Asp49Asp synonymous ADAMTS18 4 80518 4.96783E-5 40259 0 6.37308E-5
16-77468358-G-C p.Ala45Ala synonymous ADAMTS18 1 80346 1.24462E-5 40173 0 3.18552E-5
16-77468360-C-T p.Ala45Thr missense ADAMTS18 3 80252 3.73822E-5 40126 0 1.66861E-4
16-77468362-G-C p.Ala44Gly missense ADAMTS18 2 80122 2.49619E-5 40061 0 4.13565E-5
16-77468363-C-T p.Ala44Thr missense ADAMTS18 1 80086 1.24866E-5 40043 0 5.527E-6
16-77468364-G-A p.Ala43Ala synonymous ADAMTS18 2 80086 2.49732E-5 40043 0 4.17432E-5
16-77468368-A-C p.Val42Gly missense ADAMTS18 1 79996 1.25006E-5 39998 0 NA
16-77468370-C-A p.Ser41Ser synonymous ADAMTS18 2 79920 2.5025E-5 39960 0 5.59597E-6
16-77468384-G-A p.Leu37Phe missense ADAMTS18 2 79554 2.51402E-5 39777 0 4.44959E-5
16-77468391-C-T p.Leu34Leu synonymous ADAMTS18 2 79138 2.52723E-5 39569 0 NA
16-77468396-G-A p.Gln33* stop_gained ADAMTS18 1 78598 1.2723E-5 39299 0 NA
16-77468397-G-A p.Leu32Leu synonymous ADAMTS18 11 78498 1.40131E-4 39249 0 0.00154004
16-77468401-G-A p.Ala31Val missense+splice_region ADAMTS18 3 77818 3.85515E-5 38909 0 1.04254E-4
16-77468404-T-C c.91-2A>G splice_acceptor ADAMTS18 2 77684 2.57453E-5 38842 0 5.29325E-5
16-77468406-C-A c.91-4G>T splice_region ADAMTS18 1 77302 1.29363E-5 38651 0 6.25E-4
16-77468409-G-A c.91-7C>T splice_region ADAMTS18 2 77020 2.59673E-5 38510 0 NA
16-77468511-CG-TT p.ArgVal27ArgMet missense ADAMTS18 4 49892 8.01732E-5 24946 0 NA
16-77468511-C-T p.Val28Met missense ADAMTS18 1 49892 2.00433E-5 24946 0 2.58109E-5
16-77468512-G-T p.Arg27Arg synonymous ADAMTS18 1 49552 2.01808E-5 24776 0 2.57639E-5
16-77468524-C-T p.Ala23Ala synonymous ADAMTS18 6 48614 1.23421E-4 24307 0 2.94396E-4
16-77468539-C-G p.Pro18Pro synonymous ADAMTS18 1 46944 2.1302E-5 23472 0 NA
16-77468556-C-G p.Ala13Pro missense ADAMTS18 44 45644 9.63982E-4 22822 0 0.00181818
16-77468558-G-C p.Pro12Arg missense ADAMTS18 293 45508 0.00643843 22754 0 0.00932393
16-77468558-G-A p.Pro12Leu missense ADAMTS18 2 45514 4.39425E-5 22757 0 6.42674E-4
16-77468565-C-T p.Ala10Thr missense ADAMTS18 4 44878 8.91305E-5 22439 0 9.54016E-5
16-77468571-C-G p.Ala8Pro missense ADAMTS18 1 44242 2.2603E-5 22121 0 NA
16-77468572-G-A p.Leu7Leu synonymous ADAMTS18 1 44306 2.25703E-5 22153 0 NA
16-77468585-C-T p.Cys3Tyr missense ADAMTS18 1 42812 2.33579E-5 21406 0 2.36423E-5
16-77468652-G-A c.-60C>T 5_prime_UTR_premature_start_codon_gain ADAMTS18 2 33998 5.8827E-5 16999 0 NA
16-77468709-G-C c.-117C>G 5_prime_UTR_premature_start_codon_gain ADAMTS18 5 25678 1.94719E-4 12839 0 7.99693E-4