Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 16 57241992 57241992 + Missense_Mutation SNP A A G TCGA-E7-A97Q-01A-11D-A38G-08 TCGA-E7-A97Q-10A-01D-A38J-08 g.chr16:57241992A>G c.373A>G c.(373-375)Atg>Gtg p.M125V BLCA 16 57241994 57241994 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr16:57241994G>A c.375G>A c.(373-375)atG>atA p.M125I BLCA 16 57250818 57250818 + Nonsense_Mutation SNP G G T TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr16:57250818G>T c.772G>T c.(772-774)Gaa>Taa p.E258* BLCA 16 57250884 57250884 + Missense_Mutation SNP A A G TCGA-C4-A0EZ-01A-21D-A10S-08 TCGA-C4-A0EZ-10A-01D-A10S-08 g.chr16:57250884A>G c.838A>G c.(838-840)Aat>Gat p.N280D BLCA 16 57261362 57261362 + Missense_Mutation SNP G G C TCGA-DK-A6B5-01A-11D-A31L-08 TCGA-DK-A6B5-10A-01D-A31J-08 g.chr16:57261362G>C c.1270G>C c.(1270-1272)Gaa>Caa p.E424Q BLCA 16 57265188 57265188 + Missense_Mutation SNP G G T TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr16:57265188G>T c.1486G>T c.(1486-1488)Gac>Tac p.D496Y BLCA 16 57269103 57269103 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr16:57269103G>A c.1597G>A c.(1597-1599)Gag>Aag p.E533K BLCA 16 57269112 57269112 + Missense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr16:57269112G>A c.1606G>A c.(1606-1608)Gac>Aac p.D536N BRCA 16 57246892 57246892 + Silent SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr16:57246892C>T c.525C>T c.(523-525)ctC>ctT p.L175L BRCA 16 57272810 57272810 + Missense_Mutation SNP G G A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr16:57272810G>A c.1654G>A c.(1654-1656)Gcc>Acc p.A552T CESC 16 57238640 57238640 + Missense_Mutation SNP G G A TCGA-C5-A3HD-01B-11D-A20U-09 TCGA-C5-A3HD-10A-01D-A20U-09 g.chr16:57238640G>A c.70G>A c.(70-72)Gaa>Aaa p.E24K CESC 16 57254652 57254652 + Missense_Mutation SNP G G A TCGA-Q1-A5R2-01A-11D-A28B-09 TCGA-Q1-A5R2-10A-01D-A28E-09 g.chr16:57254652G>A c.910G>A c.(910-912)Gaa>Aaa p.E304K CESC 16 57264655 57264655 + Missense_Mutation SNP G G A TCGA-EA-A50E-01A-21D-A26G-09 TCGA-EA-A50E-10A-01D-A26G-09 g.chr16:57264655G>A c.1306G>A c.(1306-1308)Gaa>Aaa p.E436K CHOL 16 57247850 57247850 + Missense_Mutation SNP C C A TCGA-3X-AAVA-01A-11D-A417-09 TCGA-3X-AAVA-10A-01D-A41A-09 g.chr16:57247850C>A c.694C>A c.(694-696)Cag>Aag p.Q232K COAD 16 57255307 57255307 + Missense_Mutation SNP G G A TCGA-AA-3939-01A-01W-0995-10 TCGA-AA-3939-10A-01W-0995-10 g.chr16:57255307G>A c.1141G>A c.(1141-1143)Gac>Aac p.D381N COAD 16 57261340 57261340 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr16:57261340T>C c.1248T>C c.(1246-1248)ccT>ccC p.P416P COAD 16 57264687 57264687 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr16:57264687C>T c.1338C>T c.(1336-1338)aaC>aaT p.N446N COAD 16 57265193 57265193 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr16:57265193C>T c.1491C>T c.(1489-1491)taC>taT p.Y497Y COAD 16 57265222 57265222 + Missense_Mutation SNP T T G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr16:57265222T>G c.1520T>G c.(1519-1521)aTt>aGt p.I507S COAD 16 57269050 57269050 + Missense_Mutation SNP C C T TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr16:57269050C>T c.1544C>T c.(1543-1545)gCt>gTt p.A515V COADREAD 16 57246917 57246917 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr16:57246917T>G c.550T>G c.(550-552)Tta>Gta p.L184V COADREAD 16 57255282 57255282 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:57255282C>A c.1116C>A c.(1114-1116)gtC>gtA p.V372V COADREAD 16 57255307 57255307 + Missense_Mutation SNP G G A TCGA-AA-3939-01A-01W-0995-10 TCGA-AA-3939-10A-01W-0995-10 g.chr16:57255307G>A c.1141G>A c.(1141-1143)Gac>Aac p.D381N COADREAD 16 57261340 57261340 + Silent SNP T T C TCGA-D5-6922-01A-11D-1924-10 TCGA-D5-6922-10A-01D-1924-10 g.chr16:57261340T>C c.1248T>C c.(1246-1248)ccT>ccC p.P416P COADREAD 16 57264687 57264687 + Silent SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr16:57264687C>T c.1338C>T c.(1336-1338)aaC>aaT p.N446N COADREAD 16 57265111 57265111 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:57265111C>A c.1409C>A c.(1408-1410)tCa>tAa p.S470* COADREAD 16 57265193 57265193 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr16:57265193C>T c.1491C>T c.(1489-1491)taC>taT p.Y497Y COADREAD 16 57265222 57265222 + Missense_Mutation SNP T T G TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr16:57265222T>G c.1520T>G c.(1519-1521)aTt>aGt p.I507S COADREAD 16 57269050 57269050 + Missense_Mutation SNP C C T TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr16:57269050C>T c.1544C>T c.(1543-1545)gCt>gTt p.A515V GBMLGG 16 57238591 57238591 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr16:57238591C>T c.21C>T c.(19-21)gcC>gcT p.A7A GBMLGG 16 57238805 57238805 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr16:57238805G>A c.235G>A c.(235-237)Gac>Aac p.D79N GBMLGG 16 57238868 57238868 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57238868G>A c.298G>A c.(298-300)Gtg>Atg p.V100M GBMLGG 16 57247814 57247814 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57247814G>T c.658G>T c.(658-660)Ggt>Tgt p.G220C GBMLGG 16 57254721 57254721 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57254721G>A c.979G>A c.(979-981)Gtc>Atc p.V327I GBMLGG 16 57255217 57255217 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57255217C>T c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C GBMLGG 16 57272840 57272840 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57272840C>T c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C HNSC 16 57238645 57238645 + Missense_Mutation SNP G G T TCGA-RS-A6TO-01A-32D-A34J-08 TCGA-RS-A6TO-10A-01D-A34M-08 g.chr16:57238645G>T c.75G>T c.(73-75)gaG>gaT p.E25D HNSC 16 57238671 57238671 + Missense_Mutation SNP G G A TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr16:57238671G>A c.101G>A c.(100-102)gGa>gAa p.G34E HNSC 16 57238809 57238809 + Missense_Mutation SNP C C A TCGA-CV-7101-01A-11D-2012-08 TCGA-CV-7101-10A-01D-2013-08 g.chr16:57238809C>A c.239C>A c.(238-240)cCt>cAt p.P80H HNSC 16 57241994 57241994 + Missense_Mutation SNP G G T TCGA-HD-8635-01A-11D-2394-08 TCGA-HD-8635-10A-01D-2394-08 g.chr16:57241994G>T c.375G>T c.(373-375)atG>atT p.M125I HNSC 16 57255241 57255241 + Frame_Shift_Del DEL G G - TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:57255241delG c.1075delG c.(1075-1077)gggfs p.G359fs KIPAN 16 57255221 57255221 + Missense_Mutation SNP G G C TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr16:57255221G>C c.1055G>C c.(1054-1056)tGc>tCc p.C352S KIPAN 16 57255223 57255223 + Missense_Mutation SNP A A T TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr16:57255223A>T c.1057A>T c.(1057-1059)Acc>Tcc p.T353S KIPAN 16 57261323 57261323 + Frame_Shift_Del DEL A A - TCGA-BQ-7046-01A-11D-1961-08 TCGA-BQ-7046-11A-01D-1961-08 g.chr16:57261323delA c.1231delA c.(1231-1233)aatfs p.N411fs KIPAN 16 57265132 57265132 + Missense_Mutation SNP A A G TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr16:57265132A>G c.1430A>G c.(1429-1431)aAt>aGt p.N477S KIPAN 16 57265167 57265167 + Frame_Shift_Del DEL A A - TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr16:57265167delA c.1465delA c.(1465-1467)atgfs p.M489fs KIPAN 16 57265168 57265168 + Missense_Mutation SNP T T C TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr16:57265168T>C c.1466T>C c.(1465-1467)aTg>aCg p.M489T KIRC 16 57255221 57255221 + Missense_Mutation SNP G G C TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr16:57255221G>C c.1055G>C c.(1054-1056)tGc>tCc p.C352S KIRC 16 57255223 57255223 + Missense_Mutation SNP A A T TCGA-CZ-5986-01A-11D-1669-08 TCGA-CZ-5986-11A-01D-1669-08 g.chr16:57255223A>T c.1057A>T c.(1057-1059)Acc>Tcc p.T353S KIRC 16 57265167 57265167 + Frame_Shift_Del DEL A A - TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr16:57265167delA c.1465delA c.(1465-1467)atgfs p.M489fs KIRC 16 57265168 57265168 + Missense_Mutation SNP T T C TCGA-CZ-4856-01A-02D-1429-08 TCGA-CZ-4856-11A-01D-1429-08 g.chr16:57265168T>C c.1466T>C c.(1465-1467)aTg>aCg p.M489T KIRP 16 57261323 57261323 + Frame_Shift_Del DEL A A - TCGA-BQ-7046-01A-11D-1961-08 TCGA-BQ-7046-11A-01D-1961-08 g.chr16:57261323delA c.1231delA c.(1231-1233)aatfs p.N411fs KIRP 16 57265132 57265132 + Missense_Mutation SNP A A G TCGA-DW-7837-01A-11D-2136-08 TCGA-DW-7837-10A-01D-2136-08 g.chr16:57265132A>G c.1430A>G c.(1429-1431)aAt>aGt p.N477S LGG 16 57238591 57238591 + Silent SNP C C T TCGA-QH-A6CV-01A-11D-A31L-08 TCGA-QH-A6CV-10A-01D-A31J-08 g.chr16:57238591C>T c.21C>T c.(19-21)gcC>gcT p.A7A LGG 16 57238805 57238805 + Missense_Mutation SNP G G A TCGA-DB-A64X-01A-11D-A29Q-08 TCGA-DB-A64X-10A-01D-A29Q-08 g.chr16:57238805G>A c.235G>A c.(235-237)Gac>Aac p.D79N LGG 16 57238868 57238868 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57238868G>A c.298G>A c.(298-300)Gtg>Atg p.V100M LGG 16 57247814 57247814 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57247814G>T c.658G>T c.(658-660)Ggt>Tgt p.G220C LGG 16 57254721 57254721 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57254721G>A c.979G>A c.(979-981)Gtc>Atc p.V327I LGG 16 57255217 57255217 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57255217C>T c.1051C>T c.(1051-1053)Cgt>Tgt p.R351C LGG 16 57272840 57272840 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:57272840C>T c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C LIHC 16 57254758 57254758 + Splice_Site SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr16:57254758A>G c.1016A>G c.(1015-1017)gAg>gGg p.E339G LUAD 16 57243045 57243045 + Silent SNP A A T TCGA-L4-A4E5-01A-11D-A24P-08 TCGA-L4-A4E5-10A-01D-A24P-08 g.chr16:57243045A>T c.462A>T c.(460-462)ccA>ccT p.P154P LUAD 16 57254731 57254731 + Missense_Mutation SNP A A G TCGA-55-7570-01A-11D-2036-08 TCGA-55-7570-10A-01D-2036-08 g.chr16:57254731A>G c.989A>G c.(988-990)tAc>tGc p.Y330C LUAD 16 57255297 57255297 + Missense_Mutation SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr16:57255297G>T c.1131G>T c.(1129-1131)tgG>tgT p.W377C LUAD 16 57261275 57261275 + Missense_Mutation SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr16:57261275G>A c.1183G>A c.(1183-1185)Gat>Aat p.D395N LUAD 16 57261295 57261295 + Frame_Shift_Del DEL T T - TCGA-50-5944-01A-11D-1753-08 TCGA-50-5944-10A-01D-1753-08 g.chr16:57261295delT c.1203delT c.(1201-1203)tatfs p.Y401fs LUAD 16 57261318 57261318 + Nonsense_Mutation SNP G G A TCGA-MN-A4N5-01A-11D-A24P-08 TCGA-MN-A4N5-10A-01D-A24P-08 g.chr16:57261318G>A c.1226G>A c.(1225-1227)tGg>tAg p.W409* LUAD 16 57261339 57261339 + Missense_Mutation SNP C C G TCGA-17-Z051-01A-01W-0747-08 TCGA-17-Z051-11A-01W-0747-08 g.chr16:57261339C>G c.1247C>G c.(1246-1248)cCt>cGt p.P416R LUAD 16 57265200 57265200 + Silent SNP C C T TCGA-55-7911-01A-11D-2167-08 TCGA-55-7911-10A-01D-2167-08 g.chr16:57265200C>T c.1498C>T c.(1498-1500)Cta>Tta p.L500L LUAD 16 57272859 57272859 + Missense_Mutation SNP G G C TCGA-17-Z026-01A-01W-0746-08 TCGA-17-Z026-11A-01W-0746-08 g.chr16:57272859G>C c.1703G>C c.(1702-1704)aGa>aCa p.R568T LUSC 16 57238833 57238833 + Missense_Mutation SNP G G A TCGA-37-3783-01A-01D-1267-08 TCGA-37-3783-10A-01D-1267-08 g.chr16:57238833G>A c.263G>A c.(262-264)cGa>cAa p.R88Q LUSC 16 57243027 57243027 + Silent SNP T T G TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr16:57243027T>G c.444T>G c.(442-444)gtT>gtG p.V148V LUSC 16 57250871 57250871 + Missense_Mutation SNP G G T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr16:57250871G>T c.825G>T c.(823-825)ttG>ttT p.L275F LUSC 16 57261270 57261270 + Missense_Mutation SNP G G A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr16:57261270G>A c.1178G>A c.(1177-1179)gGg>gAg p.G393E LUSC 16 57265166 57265166 + Silent SNP T T G TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr16:57265166T>G c.1464T>G c.(1462-1464)tcT>tcG p.S488S OV 16 57261340 57261340 + Silent SNP T T A TCGA-23-1122-01A-01W-0486-08 TCGA-23-1122-10A-01W-0486-08 g.chr16:57261340T>A c.1248T>A c.(1246-1248)ccT>ccA p.P416P PAAD 16 57238646 57238646 + Missense_Mutation SNP C C A TCGA-S4-A8RO-01A-12D-A377-08 TCGA-S4-A8RO-10A-01D-A37A-08 g.chr16:57238646C>A c.76C>A c.(76-78)Cac>Aac p.H26N PAAD 16 57243042 57243042 + Silent SNP T T C TCGA-HV-A7OP-01A-11D-A33T-08 TCGA-HV-A7OP-10A-01D-A33W-08 g.chr16:57243042T>C c.459T>C c.(457-459)gaT>gaC p.D153D PAAD 16 57272872 57272872 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:57272872T>G c.1716T>G c.(1714-1716)atT>atG p.I572M PRAD 16 57243065 57243065 + Missense_Mutation SNP C C T TCGA-EJ-5519-01A-01D-1576-08 TCGA-EJ-5519-10A-01D-1577-08 g.chr16:57243065C>T c.482C>T c.(481-483)aCa>aTa p.T161I PRAD 16 57265194 57265194 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:57265194G>A c.1492G>A c.(1492-1494)Gcc>Acc p.A498T READ 16 57246917 57246917 + Missense_Mutation SNP T T G TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr16:57246917T>G c.550T>G c.(550-552)Tta>Gta p.L184V READ 16 57255282 57255282 + Silent SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:57255282C>A c.1116C>A c.(1114-1116)gtC>gtA p.V372V READ 16 57265111 57265111 + Nonsense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:57265111C>A c.1409C>A c.(1408-1410)tCa>tAa p.S470* SARC 16 57261275 57261275 + Missense_Mutation SNP G G A TCGA-DX-A3LU-01A-11D-A21Q-09 TCGA-DX-A3LU-10A-01D-A21Q-09 g.chr16:57261275G>A c.1183G>A c.(1183-1185)Gat>Aat p.D395N SKCM 16 57238576 57238576 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chr16:57238576C>T c.6C>T c.(4-6)atC>atT p.I2I SKCM 16 57238576 57238576 + Silent SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr16:57238576C>T c.6C>T c.(4-6)atC>atT p.I2I SKCM 16 57238585 57238585 + Silent SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr16:57238585T>G c.15T>G c.(13-15)ggT>ggG p.G5G SKCM 16 57238655 57238655 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr16:57238655C>T c.85C>T c.(85-87)Cac>Tac p.H29Y SKCM 16 57243085 57243085 + Missense_Mutation SNP C C T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr16:57243085C>T c.502C>T c.(502-504)Cca>Tca p.P168S SKCM 16 57254647 57254647 + Missense_Mutation SNP T T C TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr16:57254647T>C c.905T>C c.(904-906)tTa>tCa p.L302S SKCM 16 57269052 57269052 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr16:57269052C>T c.1546C>T c.(1546-1548)Ctg>Ttg p.L516L SKCM 16 57272840 57272840 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr16:57272840C>T c.1684C>T c.(1684-1686)Cgt>Tgt p.R562C SKCM 16 57272875 57272875 + Silent SNP T T C TCGA-EE-A3AE-06A-11D-A196-08 TCGA-EE-A3AE-10A-01D-A198-08 g.chr16:57272875T>C c.1719T>C c.(1717-1719)tcT>tcC p.S573S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 57241994 57241994 single base substitution G A downstream_gene_variant BLCA-US 16 57241994 57241994 single base substitution G A exon_variant BLCA-US 16 57241994 57241994 single base substitution G A missense_variant M125I 375G>A BLCA-US 16 57241994 57241994 single base substitution G A missense_variant M156I 468G>A BLCA-US 16 57241994 57241994 single base substitution G A start_lost M1I 3G>A BLCA-US 16 57241994 57241994 single base substitution G A upstream_gene_variant BLCA-US 16 57250818 57250818 single base substitution G T downstream_gene_variant BLCA-US 16 57250818 57250818 single base substitution G T splice_region_variant BLCA-US 16 57250818 57250818 single base substitution G T stop_gained E258* 772G>T BLCA-US 16 57250818 57250818 single base substitution G T upstream_gene_variant BLCA-US 16 57269103 57269103 single base substitution G A exon_variant BLCA-US 16 57269103 57269103 single base substitution G A missense_variant E533K 1597G>A BLCA-US 16 57269112 57269112 single base substitution G A exon_variant BLCA-US 16 57269112 57269112 single base substitution G A missense_variant D536N 1606G>A BRCA-EU 16 57215235 57215235 single base substitution G A upstream_gene_variant BRCA-EU 16 57217452 57217452 single base substitution C A upstream_gene_variant BRCA-EU 16 57217453 57217453 single base substitution C A upstream_gene_variant BRCA-EU 16 57218347 57218347 insertion of <=200bp - T upstream_gene_variant BRCA-EU 16 57220006 57220006 single base substitution C T upstream_gene_variant BRCA-EU 16 57220268 57220268 single base substitution C T 5_prime_UTR_variant BRCA-EU 16 57220268 57220268 single base substitution C T exon_variant BRCA-EU 16 57220268 57220268 single base substitution C T intron_variant BRCA-EU 16 57221071 57221072 deletion of <=200bp CT - intron_variant BRCA-EU 16 57225149 57225149 single base substitution T C intron_variant BRCA-EU 16 57225303 57225303 single base substitution A C intron_variant BRCA-EU 16 57225401 57225401 single base substitution C T intron_variant BRCA-EU 16 57226220 57226220 single base substitution A G intron_variant BRCA-EU 16 57226558 57226558 single base substitution G C intron_variant BRCA-EU 16 57227532 57227532 single base substitution G C intron_variant BRCA-EU 16 57228882 57228882 deletion of <=200bp T - intron_variant BRCA-EU 16 57230192 57230192 single base substitution G T intron_variant BRCA-EU 16 57232074 57232074 single base substitution G A intron_variant BRCA-EU 16 57232893 57232893 single base substitution C G intron_variant BRCA-EU 16 57234468 57234468 single base substitution C T intron_variant BRCA-EU 16 57234468 57234468 single base substitution C T upstream_gene_variant BRCA-EU 16 57236994 57236994 single base substitution G C intron_variant BRCA-EU 16 57236994 57236994 single base substitution G C upstream_gene_variant BRCA-EU 16 57237924 57237924 deletion of <=200bp T - intron_variant BRCA-EU 16 57237924 57237924 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 57241521 57241521 single base substitution G C 5_prime_UTR_variant BRCA-EU 16 57241521 57241521 single base substitution G C downstream_gene_variant BRCA-EU 16 57241521 57241521 single base substitution G C intron_variant BRCA-EU 16 57241521 57241521 single base substitution G C missense_variant E123Q 367G>C BRCA-EU 16 57241521 57241521 single base substitution G C upstream_gene_variant BRCA-EU 16 57243132 57243132 single base substitution A C downstream_gene_variant BRCA-EU 16 57243132 57243132 single base substitution A C intron_variant BRCA-EU 16 57243132 57243132 single base substitution A C upstream_gene_variant BRCA-EU 16 57245195 57245195 single base substitution A G downstream_gene_variant BRCA-EU 16 57245195 57245195 single base substitution A G intron_variant BRCA-EU 16 57245195 57245195 single base substitution A G upstream_gene_variant BRCA-EU 16 57248636 57248636 single base substitution G C intron_variant BRCA-EU 16 57248636 57248636 single base substitution G C upstream_gene_variant BRCA-EU 16 57248727 57248727 single base substitution G T intron_variant BRCA-EU 16 57248727 57248727 single base substitution G T upstream_gene_variant BRCA-EU 16 57251416 57251416 single base substitution C T downstream_gene_variant BRCA-EU 16 57251416 57251416 single base substitution C T intron_variant BRCA-EU 16 57251416 57251416 single base substitution C T upstream_gene_variant BRCA-EU 16 57252534 57252534 single base substitution A C downstream_gene_variant BRCA-EU 16 57252534 57252534 single base substitution A C intron_variant BRCA-EU 16 57252534 57252534 single base substitution A C upstream_gene_variant BRCA-EU 16 57254790 57254790 deletion of <=200bp G - downstream_gene_variant BRCA-EU 16 57254790 57254790 deletion of <=200bp G - intron_variant BRCA-EU 16 57254790 57254790 deletion of <=200bp G - upstream_gene_variant BRCA-EU 16 57256450 57256450 single base substitution C T downstream_gene_variant BRCA-EU 16 57256450 57256450 single base substitution C T intron_variant BRCA-EU 16 57256450 57256450 single base substitution C T upstream_gene_variant BRCA-EU 16 57256798 57256798 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 57256798 57256798 deletion of <=200bp T - intron_variant BRCA-EU 16 57256798 57256798 deletion of <=200bp T - upstream_gene_variant BRCA-EU 16 57256925 57256925 single base substitution C G downstream_gene_variant BRCA-EU 16 57256925 57256925 single base substitution C G intron_variant BRCA-EU 16 57256925 57256925 single base substitution C G upstream_gene_variant BRCA-EU 16 57257769 57257769 single base substitution C G downstream_gene_variant BRCA-EU 16 57257769 57257769 single base substitution C G intron_variant BRCA-EU 16 57257769 57257769 single base substitution C G upstream_gene_variant BRCA-EU 16 57260616 57260616 single base substitution C T intron_variant BRCA-EU 16 57263849 57263849 single base substitution C G intron_variant BRCA-EU 16 57264834 57264834 single base substitution G C intron_variant BRCA-EU 16 57265086 57265086 deletion of <=200bp T - exon_variant BRCA-EU 16 57265086 57265086 deletion of <=200bp T - frameshift_variant F462 BRCA-EU 16 57265349 57265349 single base substitution G T intron_variant BRCA-EU 16 57266113 57266113 single base substitution C T intron_variant BRCA-EU 16 57267179 57267179 single base substitution G C intron_variant BRCA-EU 16 57267328 57267328 single base substitution C T intron_variant BRCA-EU 16 57268344 57268344 single base substitution T A intron_variant BRCA-EU 16 57270432 57270432 single base substitution G A intron_variant BRCA-EU 16 57273558 57273558 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 57273558 57273558 single base substitution T C downstream_gene_variant BRCA-EU 16 57273558 57273558 single base substitution T C exon_variant BRCA-EU 16 57273673 57273673 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 57273673 57273673 single base substitution T A downstream_gene_variant BRCA-EU 16 57273673 57273673 single base substitution T A exon_variant BRCA-EU 16 57274221 57274221 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 57274221 57274221 single base substitution T A downstream_gene_variant BRCA-EU 16 57274221 57274221 single base substitution T A exon_variant BRCA-EU 16 57276605 57276605 single base substitution G C downstream_gene_variant BRCA-EU 16 57277491 57277491 single base substitution G A downstream_gene_variant BRCA-EU 16 57278016 57278016 single base substitution G A downstream_gene_variant BRCA-EU 16 57278212 57278212 single base substitution C G downstream_gene_variant BRCA-EU 16 57278271 57278271 single base substitution G A downstream_gene_variant BRCA-EU 16 57278476 57278476 single base substitution C T downstream_gene_variant BRCA-EU 16 57279005 57279005 single base substitution G C downstream_gene_variant BRCA-FR 16 57215235 57215235 single base substitution G A upstream_gene_variant BRCA-FR 16 57225401 57225401 single base substitution C T intron_variant BRCA-FR 16 57227532 57227532 single base substitution G C intron_variant BRCA-FR 16 57232893 57232893 single base substitution C G intron_variant BRCA-FR 16 57241521 57241521 single base substitution G C 5_prime_UTR_variant BRCA-FR 16 57241521 57241521 single base substitution G C downstream_gene_variant BRCA-FR 16 57241521 57241521 single base substitution G C intron_variant BRCA-FR 16 57241521 57241521 single base substitution G C missense_variant E123Q 367G>C BRCA-FR 16 57241521 57241521 single base substitution G C upstream_gene_variant BRCA-FR 16 57256450 57256450 single base substitution C T downstream_gene_variant BRCA-FR 16 57256450 57256450 single base substitution C T intron_variant BRCA-FR 16 57256450 57256450 single base substitution C T upstream_gene_variant BRCA-FR 16 57256925 57256925 single base substitution C G downstream_gene_variant BRCA-FR 16 57256925 57256925 single base substitution C G intron_variant BRCA-FR 16 57256925 57256925 single base substitution C G upstream_gene_variant BRCA-FR 16 57267328 57267328 single base substitution C T intron_variant BRCA-FR 16 57278016 57278016 single base substitution G A downstream_gene_variant BRCA-FR 16 57278212 57278212 single base substitution C G downstream_gene_variant BRCA-FR 16 57278476 57278476 single base substitution C T downstream_gene_variant BRCA-KR 16 57254756 57254756 single base substitution A G downstream_gene_variant BRCA-KR 16 57254756 57254756 single base substitution A G exon_variant BRCA-KR 16 57254756 57254756 single base substitution A G synonymous_variant L338L 1014A>G BRCA-KR 16 57254756 57254756 single base substitution A G upstream_gene_variant BRCA-US 16 57246892 57246892 single base substitution C T downstream_gene_variant BRCA-US 16 57246892 57246892 single base substitution C T exon_variant BRCA-US 16 57246892 57246892 single base substitution C T synonymous_variant L175L 525C>T BRCA-US 16 57246892 57246892 single base substitution C T upstream_gene_variant BRCA-US 16 57272810 57272810 single base substitution G A exon_variant BRCA-US 16 57272810 57272810 single base substitution G A missense_variant A552T 1654G>A BTCA-JP 16 57255394 57255394 single base substitution G A downstream_gene_variant BTCA-JP 16 57255394 57255394 single base substitution G A intron_variant BTCA-JP 16 57255394 57255394 single base substitution G A upstream_gene_variant BTCA-JP 16 57264752 57264752 single base substitution T G intron_variant CESC-US 16 57238640 57238640 single base substitution G A exon_variant CESC-US 16 57238640 57238640 single base substitution G A intron_variant CESC-US 16 57238640 57238640 single base substitution G A missense_variant E24K 70G>A CESC-US 16 57238640 57238640 single base substitution G A upstream_gene_variant CESC-US 16 57254652 57254652 single base substitution G A downstream_gene_variant CESC-US 16 57254652 57254652 single base substitution G A exon_variant CESC-US 16 57254652 57254652 single base substitution G A missense_variant E304K 910G>A CESC-US 16 57254652 57254652 single base substitution G A upstream_gene_variant CESC-US 16 57264655 57264655 single base substitution G A exon_variant CESC-US 16 57264655 57264655 single base substitution G A missense_variant E436K 1306G>A CLLE-ES 16 57233831 57233831 single base substitution T C intron_variant CLLE-ES 16 57233831 57233831 single base substitution T C upstream_gene_variant CLLE-ES 16 57269070 57269070 single base substitution A G exon_variant CLLE-ES 16 57269070 57269070 single base substitution A G missense_variant I522V 1564A>G COAD-US 16 57265193 57265193 single base substitution C T exon_variant COAD-US 16 57265193 57265193 single base substitution C T synonymous_variant Y497Y 1491C>T COAD-US 16 57269050 57269050 single base substitution C T exon_variant COAD-US 16 57269050 57269050 single base substitution C T missense_variant A515V 1544C>T COCA-CN 16 57243130 57243130 single base substitution T C downstream_gene_variant COCA-CN 16 57243130 57243130 single base substitution T C intron_variant COCA-CN 16 57243130 57243130 single base substitution T C upstream_gene_variant COCA-CN 16 57247999 57247999 single base substitution C T downstream_gene_variant COCA-CN 16 57247999 57247999 single base substitution C T intron_variant COCA-CN 16 57249986 57249986 single base substitution T A intron_variant COCA-CN 16 57249986 57249986 single base substitution T A upstream_gene_variant COCA-CN 16 57250002 57250002 single base substitution C T intron_variant COCA-CN 16 57250002 57250002 single base substitution C T upstream_gene_variant COCA-CN 16 57264851 57264851 single base substitution T C intron_variant COCA-CN 16 57265039 57265039 single base substitution T G intron_variant ESAD-UK 16 57218663 57218663 single base substitution T G upstream_gene_variant ESAD-UK 16 57220132 57220132 single base substitution A C 5_prime_UTR_variant ESAD-UK 16 57220132 57220132 single base substitution A C upstream_gene_variant ESAD-UK 16 57220241 57220241 single base substitution C A 5_prime_UTR_variant ESAD-UK 16 57220241 57220241 single base substitution C A exon_variant ESAD-UK 16 57220241 57220241 single base substitution C A intron_variant ESAD-UK 16 57220241 57220241 single base substitution C A upstream_gene_variant ESAD-UK 16 57223060 57223060 single base substitution C T intron_variant ESAD-UK 16 57232523 57232523 deletion of <=200bp T - intron_variant ESAD-UK 16 57237210 57237210 single base substitution T C intron_variant ESAD-UK 16 57237210 57237210 single base substitution T C upstream_gene_variant ESAD-UK 16 57238088 57238088 single base substitution T A intron_variant ESAD-UK 16 57238088 57238088 single base substitution T A upstream_gene_variant ESAD-UK 16 57243839 57243839 single base substitution C T downstream_gene_variant ESAD-UK 16 57243839 57243839 single base substitution C T intron_variant ESAD-UK 16 57243839 57243839 single base substitution C T upstream_gene_variant ESAD-UK 16 57251504 57251504 single base substitution G A downstream_gene_variant ESAD-UK 16 57251504 57251504 single base substitution G A intron_variant ESAD-UK 16 57251504 57251504 single base substitution G A upstream_gene_variant ESAD-UK 16 57256871 57256871 single base substitution G T downstream_gene_variant ESAD-UK 16 57256871 57256871 single base substitution G T intron_variant ESAD-UK 16 57256871 57256871 single base substitution G T upstream_gene_variant ESAD-UK 16 57259527 57259527 single base substitution T A downstream_gene_variant ESAD-UK 16 57259527 57259527 single base substitution T A intron_variant ESAD-UK 16 57259923 57259923 single base substitution G C intron_variant ESAD-UK 16 57263296 57263296 single base substitution T G intron_variant ESAD-UK 16 57271200 57271200 single base substitution C T intron_variant ESAD-UK 16 57273737 57273737 single base substitution T A 3_prime_UTR_variant ESAD-UK 16 57273737 57273737 single base substitution T A downstream_gene_variant ESAD-UK 16 57273737 57273737 single base substitution T A exon_variant ESAD-UK 16 57278198 57278198 single base substitution C T downstream_gene_variant KIRC-US 16 57255221 57255221 single base substitution G C downstream_gene_variant KIRC-US 16 57255221 57255221 single base substitution G C exon_variant KIRC-US 16 57255221 57255221 single base substitution G C missense_variant C352S 1055G>C KIRC-US 16 57255221 57255221 single base substitution G C upstream_gene_variant KIRC-US 16 57255223 57255223 single base substitution A T downstream_gene_variant KIRC-US 16 57255223 57255223 single base substitution A T exon_variant KIRC-US 16 57255223 57255223 single base substitution A T missense_variant T353S 1057A>T KIRC-US 16 57255223 57255223 single base substitution A T upstream_gene_variant KIRC-US 16 57261305 57261305 single base substitution C A exon_variant KIRC-US 16 57261305 57261305 single base substitution C A synonymous_variant R405R 1213C>A KIRC-US 16 57265167 57265167 deletion of <=200bp A - exon_variant KIRC-US 16 57265167 57265167 deletion of <=200bp A - frameshift_variant M489 KIRC-US 16 57265168 57265168 single base substitution T C exon_variant KIRC-US 16 57265168 57265168 single base substitution T C missense_variant M489T 1466T>C KIRP-US 16 57261323 57261323 deletion of <=200bp A - exon_variant KIRP-US 16 57261323 57261323 deletion of <=200bp A - frameshift_variant N411 KIRP-US 16 57265132 57265132 single base substitution A G exon_variant KIRP-US 16 57265132 57265132 single base substitution A G missense_variant N477S 1430A>G LAML-KR 16 57222181 57222181 single base substitution C T intron_variant LAML-KR 16 57242140 57242140 single base substitution T G downstream_gene_variant LAML-KR 16 57242140 57242140 single base substitution T G intron_variant LAML-KR 16 57242140 57242140 single base substitution T G upstream_gene_variant LAML-KR 16 57277579 57277579 single base substitution G A downstream_gene_variant LGG-US 16 57238805 57238805 single base substitution G A exon_variant LGG-US 16 57238805 57238805 single base substitution G A intron_variant LGG-US 16 57238805 57238805 single base substitution G A missense_variant D79N 235G>A LGG-US 16 57238805 57238805 single base substitution G A upstream_gene_variant LICA-CN 16 57238834 57238834 single base substitution A T exon_variant LICA-CN 16 57238834 57238834 single base substitution A T intron_variant LICA-CN 16 57238834 57238834 single base substitution A T synonymous_variant R88R 264A>T LICA-CN 16 57238834 57238834 single base substitution A T upstream_gene_variant LICA-FR 16 57227321 57227321 single base substitution A G intron_variant LICA-FR 16 57227740 57227740 single base substitution G A intron_variant LICA-FR 16 57242140 57242140 single base substitution T A downstream_gene_variant LICA-FR 16 57242140 57242140 single base substitution T A intron_variant LICA-FR 16 57242140 57242140 single base substitution T A upstream_gene_variant LICA-FR 16 57250387 57250387 single base substitution T C exon_variant LICA-FR 16 57250387 57250387 single base substitution T C intron_variant LICA-FR 16 57250387 57250387 single base substitution T C upstream_gene_variant LICA-FR 16 57267588 57267588 single base substitution C G intron_variant LICA-FR 16 57269034 57269034 single base substitution A T splice_acceptor_variant LINC-JP 16 57215293 57215293 deletion of <=200bp A - upstream_gene_variant LINC-JP 16 57243007 57243007 single base substitution G T downstream_gene_variant LINC-JP 16 57243007 57243007 single base substitution G T exon_variant LINC-JP 16 57243007 57243007 single base substitution G T missense_variant V142F 424G>T LINC-JP 16 57243007 57243007 single base substitution G T missense_variant V18F 52G>T LINC-JP 16 57243007 57243007 single base substitution G T synonymous_variant ?173 LINC-JP 16 57243007 57243007 single base substitution G T upstream_gene_variant LINC-JP 16 57245197 57245197 single base substitution G A downstream_gene_variant LINC-JP 16 57245197 57245197 single base substitution G A intron_variant LINC-JP 16 57245197 57245197 single base substitution G A upstream_gene_variant LINC-JP 16 57245637 57245637 single base substitution C T downstream_gene_variant LINC-JP 16 57245637 57245637 single base substitution C T intron_variant LINC-JP 16 57245637 57245637 single base substitution C T upstream_gene_variant LINC-JP 16 57246811 57246811 deletion of <=200bp A - downstream_gene_variant LINC-JP 16 57246811 57246811 deletion of <=200bp A - intron_variant LINC-JP 16 57246811 57246811 deletion of <=200bp A - upstream_gene_variant LINC-JP 16 57254396 57254396 single base substitution G T downstream_gene_variant LINC-JP 16 57254396 57254396 single base substitution G T exon_variant LINC-JP 16 57254396 57254396 single base substitution G T intron_variant LINC-JP 16 57254396 57254396 single base substitution G T upstream_gene_variant LINC-JP 16 57255394 57255394 single base substitution G A downstream_gene_variant LINC-JP 16 57255394 57255394 single base substitution G A intron_variant LINC-JP 16 57255394 57255394 single base substitution G A upstream_gene_variant LINC-JP 16 57260123 57260123 single base substitution G T intron_variant LINC-JP 16 57261138 57261138 single base substitution T G intron_variant LINC-JP 16 57272843 57272843 single base substitution A C exon_variant LINC-JP 16 57272843 57272843 single base substitution A C missense_variant K563Q 1687A>C LIRI-JP 16 57217556 57217556 single base substitution T C upstream_gene_variant LIRI-JP 16 57218307 57218307 single base substitution G A upstream_gene_variant LIRI-JP 16 57218476 57218476 single base substitution C A upstream_gene_variant LIRI-JP 16 57219220 57219220 single base substitution C T upstream_gene_variant LIRI-JP 16 57222443 57222443 single base substitution T G intron_variant LIRI-JP 16 57222705 57222705 single base substitution G A intron_variant LIRI-JP 16 57224359 57224359 single base substitution A G intron_variant LIRI-JP 16 57227443 57227443 single base substitution C T intron_variant LIRI-JP 16 57227570 57227570 single base substitution A T intron_variant LIRI-JP 16 57228533 57228533 single base substitution G T intron_variant LIRI-JP 16 57230499 57230499 single base substitution G T intron_variant LIRI-JP 16 57231490 57231490 single base substitution A G intron_variant LIRI-JP 16 57232884 57232884 single base substitution C T intron_variant LIRI-JP 16 57236012 57236012 single base substitution T C intron_variant LIRI-JP 16 57236012 57236012 single base substitution T C upstream_gene_variant LIRI-JP 16 57236600 57236600 single base substitution G C intron_variant LIRI-JP 16 57236600 57236600 single base substitution G C upstream_gene_variant LIRI-JP 16 57244664 57244664 single base substitution T G downstream_gene_variant LIRI-JP 16 57244664 57244664 single base substitution T G intron_variant LIRI-JP 16 57244664 57244664 single base substitution T G upstream_gene_variant LIRI-JP 16 57249106 57249106 single base substitution G C intron_variant LIRI-JP 16 57249106 57249106 single base substitution G C upstream_gene_variant LIRI-JP 16 57253000 57253000 single base substitution C A downstream_gene_variant LIRI-JP 16 57253000 57253000 single base substitution C A intron_variant LIRI-JP 16 57253000 57253000 single base substitution C A upstream_gene_variant LIRI-JP 16 57254557 57254557 single base substitution T G downstream_gene_variant LIRI-JP 16 57254557 57254557 single base substitution T G exon_variant LIRI-JP 16 57254557 57254557 single base substitution T G intron_variant LIRI-JP 16 57254557 57254557 single base substitution T G upstream_gene_variant LIRI-JP 16 57256150 57256150 single base substitution A G downstream_gene_variant LIRI-JP 16 57256150 57256150 single base substitution A G intron_variant LIRI-JP 16 57256150 57256150 single base substitution A G upstream_gene_variant LIRI-JP 16 57256422 57256422 single base substitution A C downstream_gene_variant LIRI-JP 16 57256422 57256422 single base substitution A C intron_variant LIRI-JP 16 57256422 57256422 single base substitution A C upstream_gene_variant LIRI-JP 16 57256423 57256423 single base substitution G C downstream_gene_variant LIRI-JP 16 57256423 57256423 single base substitution G C intron_variant LIRI-JP 16 57256423 57256423 single base substitution G C upstream_gene_variant LIRI-JP 16 57257763 57257763 single base substitution A T downstream_gene_variant LIRI-JP 16 57257763 57257763 single base substitution A T intron_variant LIRI-JP 16 57257763 57257763 single base substitution A T upstream_gene_variant LIRI-JP 16 57257907 57257907 single base substitution G T downstream_gene_variant LIRI-JP 16 57257907 57257907 single base substitution G T intron_variant LIRI-JP 16 57257907 57257907 single base substitution G T upstream_gene_variant LIRI-JP 16 57259209 57259209 single base substitution G A downstream_gene_variant LIRI-JP 16 57259209 57259209 single base substitution G A intron_variant LIRI-JP 16 57261607 57261607 single base substitution T C intron_variant LIRI-JP 16 57266814 57266814 single base substitution A G intron_variant LIRI-JP 16 57266985 57266985 single base substitution A G intron_variant LIRI-JP 16 57267019 57267019 single base substitution A G intron_variant LIRI-JP 16 57267801 57267801 single base substitution C T intron_variant LIRI-JP 16 57268297 57268297 single base substitution A G intron_variant LIRI-JP 16 57268437 57268437 single base substitution G A intron_variant LIRI-JP 16 57269220 57269220 single base substitution A G intron_variant LIRI-JP 16 57271046 57271046 single base substitution T G intron_variant LIRI-JP 16 57273572 57273572 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 57273572 57273572 single base substitution G A downstream_gene_variant LIRI-JP 16 57273572 57273572 single base substitution G A exon_variant LIRI-JP 16 57273828 57273828 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 57273828 57273828 single base substitution G A downstream_gene_variant LIRI-JP 16 57273828 57273828 single base substitution G A exon_variant LIRI-JP 16 57273901 57273901 single base substitution A G 3_prime_UTR_variant LIRI-JP 16 57273901 57273901 single base substitution A G downstream_gene_variant LIRI-JP 16 57273901 57273901 single base substitution A G exon_variant LIRI-JP 16 57274493 57274493 single base substitution G A downstream_gene_variant LIRI-JP 16 57277171 57277171 single base substitution A T downstream_gene_variant LIRI-JP 16 57277295 57277295 single base substitution A C downstream_gene_variant LIRI-JP 16 57277314 57277314 single base substitution A C downstream_gene_variant LUSC-KR 16 57215985 57215985 single base substitution C A upstream_gene_variant LUSC-KR 16 57216674 57216674 single base substitution T G upstream_gene_variant LUSC-KR 16 57217294 57217294 single base substitution G C upstream_gene_variant LUSC-KR 16 57217464 57217464 single base substitution C G upstream_gene_variant LUSC-KR 16 57217472 57217472 single base substitution T A upstream_gene_variant LUSC-KR 16 57217699 57217699 single base substitution G T upstream_gene_variant LUSC-KR 16 57220174 57220174 single base substitution G T intron_variant LUSC-KR 16 57220174 57220174 single base substitution G T upstream_gene_variant LUSC-KR 16 57222923 57222923 single base substitution G T intron_variant LUSC-KR 16 57234871 57234871 single base substitution G T intron_variant LUSC-KR 16 57234871 57234871 single base substitution G T upstream_gene_variant LUSC-KR 16 57235290 57235290 single base substitution A G intron_variant LUSC-KR 16 57235290 57235290 single base substitution A G upstream_gene_variant LUSC-KR 16 57235327 57235327 single base substitution A G intron_variant LUSC-KR 16 57235327 57235327 single base substitution A G upstream_gene_variant LUSC-KR 16 57239261 57239261 single base substitution A T downstream_gene_variant LUSC-KR 16 57239261 57239261 single base substitution A T intron_variant LUSC-KR 16 57239261 57239261 single base substitution A T upstream_gene_variant LUSC-KR 16 57243065 57243065 single base substitution C A downstream_gene_variant LUSC-KR 16 57243065 57243065 single base substitution C A exon_variant LUSC-KR 16 57243065 57243065 single base substitution C A missense_variant T161K 482C>A LUSC-KR 16 57243065 57243065 single base substitution C A missense_variant T37K 110C>A LUSC-KR 16 57243065 57243065 single base substitution C A upstream_gene_variant LUSC-KR 16 57252646 57252646 single base substitution T C downstream_gene_variant LUSC-KR 16 57252646 57252646 single base substitution T C intron_variant LUSC-KR 16 57252646 57252646 single base substitution T C upstream_gene_variant LUSC-KR 16 57253251 57253251 single base substitution A T downstream_gene_variant LUSC-KR 16 57253251 57253251 single base substitution A T intron_variant LUSC-KR 16 57253251 57253251 single base substitution A T upstream_gene_variant LUSC-KR 16 57261983 57261983 single base substitution C G intron_variant LUSC-KR 16 57262938 57262938 single base substitution A T intron_variant LUSC-KR 16 57269949 57269949 single base substitution C T intron_variant LUSC-US 16 57238833 57238833 single base substitution G A exon_variant LUSC-US 16 57238833 57238833 single base substitution G A intron_variant LUSC-US 16 57238833 57238833 single base substitution G A missense_variant R88Q 263G>A LUSC-US 16 57238833 57238833 single base substitution G A upstream_gene_variant LUSC-US 16 57243027 57243027 single base substitution T G downstream_gene_variant LUSC-US 16 57243027 57243027 single base substitution T G exon_variant LUSC-US 16 57243027 57243027 single base substitution T G synonymous_variant V148V 444T>G LUSC-US 16 57243027 57243027 single base substitution T G synonymous_variant V24V 72T>G LUSC-US 16 57243027 57243027 single base substitution T G upstream_gene_variant LUSC-US 16 57250871 57250871 single base substitution G T downstream_gene_variant LUSC-US 16 57250871 57250871 single base substitution G T exon_variant LUSC-US 16 57250871 57250871 single base substitution G T missense_variant L275F 825G>T LUSC-US 16 57250871 57250871 single base substitution G T upstream_gene_variant LUSC-US 16 57261270 57261270 single base substitution G A exon_variant LUSC-US 16 57261270 57261270 single base substitution G A missense_variant G393E 1178G>A LUSC-US 16 57265166 57265166 single base substitution T G exon_variant LUSC-US 16 57265166 57265166 single base substitution T G synonymous_variant S488S 1464T>G MALY-DE 16 57220141 57220141 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant MALY-DE 16 57220141 57220141 single base substitution T C upstream_gene_variant MALY-DE 16 57220156 57220156 single base substitution C T intron_variant MALY-DE 16 57220156 57220156 single base substitution C T upstream_gene_variant MALY-DE 16 57221958 57221958 single base substitution C T intron_variant MALY-DE 16 57224427 57224427 single base substitution A C intron_variant MALY-DE 16 57224697 57224697 single base substitution G T intron_variant MALY-DE 16 57226425 57226425 single base substitution C T intron_variant MALY-DE 16 57227112 57227112 single base substitution G T intron_variant MALY-DE 16 57227116 57227116 single base substitution G C intron_variant MALY-DE 16 57227908 57227908 single base substitution A T intron_variant MALY-DE 16 57229182 57229182 single base substitution G A intron_variant MALY-DE 16 57232213 57232213 single base substitution A G intron_variant MALY-DE 16 57233473 57233473 single base substitution G T intron_variant MALY-DE 16 57235976 57235976 single base substitution G A intron_variant MALY-DE 16 57235976 57235976 single base substitution G A upstream_gene_variant MALY-DE 16 57236109 57236109 single base substitution A C intron_variant MALY-DE 16 57236109 57236109 single base substitution A C upstream_gene_variant MALY-DE 16 57239088 57239088 single base substitution T C exon_variant MALY-DE 16 57239088 57239088 single base substitution T C intron_variant MALY-DE 16 57239088 57239088 single base substitution T C upstream_gene_variant MALY-DE 16 57243885 57243885 single base substitution G A downstream_gene_variant MALY-DE 16 57243885 57243885 single base substitution G A intron_variant MALY-DE 16 57243885 57243885 single base substitution G A upstream_gene_variant MALY-DE 16 57246164 57246164 single base substitution A G downstream_gene_variant MALY-DE 16 57246164 57246164 single base substitution A G intron_variant MALY-DE 16 57246164 57246164 single base substitution A G upstream_gene_variant MALY-DE 16 57252043 57252043 single base substitution A G downstream_gene_variant MALY-DE 16 57252043 57252043 single base substitution A G intron_variant MALY-DE 16 57252043 57252043 single base substitution A G upstream_gene_variant MALY-DE 16 57257317 57257317 single base substitution T C downstream_gene_variant MALY-DE 16 57257317 57257317 single base substitution T C intron_variant MALY-DE 16 57257317 57257317 single base substitution T C upstream_gene_variant MALY-DE 16 57259446 57259446 single base substitution C A downstream_gene_variant MALY-DE 16 57259446 57259446 single base substitution C A intron_variant MALY-DE 16 57274118 57274118 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 16 57274118 57274118 insertion of <=200bp - T downstream_gene_variant MALY-DE 16 57274118 57274118 insertion of <=200bp - T exon_variant MALY-DE 16 57274793 57274793 deletion of <=200bp G - downstream_gene_variant MALY-DE 16 57277083 57277083 deletion of <=200bp A - downstream_gene_variant MELA-AU 16 57216116 57216116 single base substitution C T upstream_gene_variant MELA-AU 16 57216120 57216120 single base substitution G A upstream_gene_variant MELA-AU 16 57216214 57216214 single base substitution G A upstream_gene_variant MELA-AU 16 57216425 57216425 single base substitution G A upstream_gene_variant MELA-AU 16 57216938 57216938 single base substitution G T upstream_gene_variant MELA-AU 16 57217171 57217171 single base substitution C T upstream_gene_variant MELA-AU 16 57217699 57217699 single base substitution G A upstream_gene_variant MELA-AU 16 57218140 57218140 single base substitution G A upstream_gene_variant MELA-AU 16 57218200 57218200 single base substitution A T upstream_gene_variant MELA-AU 16 57220000 57220000 single base substitution C T upstream_gene_variant MELA-AU 16 57220019 57220019 single base substitution G A upstream_gene_variant MELA-AU 16 57220106 57220106 single base substitution G A 5_prime_UTR_variant MELA-AU 16 57220106 57220106 single base substitution G A upstream_gene_variant MELA-AU 16 57220118 57220119 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 16 57220118 57220119 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 57220126 57220126 single base substitution C T 5_prime_UTR_variant MELA-AU 16 57220126 57220126 single base substitution C T upstream_gene_variant MELA-AU 16 57220164 57220164 single base substitution G A intron_variant MELA-AU 16 57220164 57220164 single base substitution G A upstream_gene_variant MELA-AU 16 57220168 57220168 single base substitution G A intron_variant MELA-AU 16 57220168 57220168 single base substitution G A upstream_gene_variant MELA-AU 16 57220180 57220180 single base substitution G A intron_variant MELA-AU 16 57220180 57220180 single base substitution G A upstream_gene_variant MELA-AU 16 57220195 57220195 single base substitution C T 5_prime_UTR_variant MELA-AU 16 57220195 57220195 single base substitution C T intron_variant MELA-AU 16 57220195 57220195 single base substitution C T upstream_gene_variant MELA-AU 16 57220209 57220209 single base substitution G A 5_prime_UTR_variant MELA-AU 16 57220209 57220209 single base substitution G A intron_variant MELA-AU 16 57220209 57220209 single base substitution G A upstream_gene_variant MELA-AU 16 57220533 57220533 single base substitution C T 5_prime_UTR_variant MELA-AU 16 57220533 57220533 single base substitution C T exon_variant MELA-AU 16 57220533 57220533 single base substitution C T intron_variant MELA-AU 16 57222458 57222458 single base substitution C T intron_variant MELA-AU 16 57222551 57222551 single base substitution C T intron_variant MELA-AU 16 57222697 57222697 single base substitution G A intron_variant MELA-AU 16 57222948 57222948 single base substitution C T intron_variant MELA-AU 16 57224396 57224396 single base substitution C T intron_variant MELA-AU 16 57225489 57225489 single base substitution A T intron_variant MELA-AU 16 57226184 57226184 single base substitution C T intron_variant MELA-AU 16 57226681 57226681 single base substitution G A intron_variant MELA-AU 16 57227144 57227145 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57228225 57228225 single base substitution T C intron_variant MELA-AU 16 57229318 57229318 single base substitution G A intron_variant MELA-AU 16 57229489 57229489 single base substitution C G intron_variant MELA-AU 16 57229526 57229526 single base substitution T A intron_variant MELA-AU 16 57229528 57229528 single base substitution A T intron_variant MELA-AU 16 57230312 57230312 single base substitution C T intron_variant MELA-AU 16 57230321 57230321 single base substitution C T intron_variant MELA-AU 16 57230369 57230369 single base substitution C T intron_variant MELA-AU 16 57230480 57230480 single base substitution A T intron_variant MELA-AU 16 57230605 57230605 single base substitution G A intron_variant MELA-AU 16 57230687 57230687 single base substitution C T intron_variant MELA-AU 16 57231210 57231210 single base substitution C T intron_variant MELA-AU 16 57231639 57231639 single base substitution G A intron_variant MELA-AU 16 57231650 57231650 single base substitution C T intron_variant MELA-AU 16 57232045 57232045 single base substitution C T intron_variant MELA-AU 16 57232311 57232311 single base substitution T A intron_variant MELA-AU 16 57232910 57232910 single base substitution C T intron_variant MELA-AU 16 57233766 57233766 single base substitution C T intron_variant MELA-AU 16 57233766 57233766 single base substitution C T upstream_gene_variant MELA-AU 16 57235265 57235265 single base substitution C T intron_variant MELA-AU 16 57235265 57235265 single base substitution C T upstream_gene_variant MELA-AU 16 57235483 57235483 single base substitution G T intron_variant MELA-AU 16 57235483 57235483 single base substitution G T upstream_gene_variant MELA-AU 16 57235768 57235769 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 57235768 57235769 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 57235962 57235962 single base substitution G A intron_variant MELA-AU 16 57235962 57235962 single base substitution G A upstream_gene_variant MELA-AU 16 57235981 57235981 single base substitution C T intron_variant MELA-AU 16 57235981 57235981 single base substitution C T upstream_gene_variant MELA-AU 16 57236019 57236019 single base substitution G A intron_variant MELA-AU 16 57236019 57236019 single base substitution G A upstream_gene_variant MELA-AU 16 57236213 57236213 single base substitution C T intron_variant MELA-AU 16 57236213 57236213 single base substitution C T upstream_gene_variant MELA-AU 16 57236695 57236695 single base substitution C T intron_variant MELA-AU 16 57236695 57236695 single base substitution C T upstream_gene_variant MELA-AU 16 57236899 57236899 single base substitution G C intron_variant MELA-AU 16 57236899 57236899 single base substitution G C upstream_gene_variant MELA-AU 16 57237294 57237294 single base substitution C T intron_variant MELA-AU 16 57237294 57237294 single base substitution C T upstream_gene_variant MELA-AU 16 57237342 57237342 single base substitution T C intron_variant MELA-AU 16 57237342 57237342 single base substitution T C upstream_gene_variant MELA-AU 16 57237864 57237864 single base substitution G A intron_variant MELA-AU 16 57237864 57237864 single base substitution G A upstream_gene_variant MELA-AU 16 57238274 57238274 single base substitution C T intron_variant MELA-AU 16 57238274 57238274 single base substitution C T upstream_gene_variant MELA-AU 16 57238349 57238349 single base substitution G A intron_variant MELA-AU 16 57238349 57238349 single base substitution G A upstream_gene_variant MELA-AU 16 57241344 57241344 single base substitution C T downstream_gene_variant MELA-AU 16 57241344 57241344 single base substitution C T intron_variant MELA-AU 16 57241344 57241344 single base substitution C T upstream_gene_variant MELA-AU 16 57241353 57241353 single base substitution G A downstream_gene_variant MELA-AU 16 57241353 57241353 single base substitution G A intron_variant MELA-AU 16 57241353 57241353 single base substitution G A upstream_gene_variant MELA-AU 16 57241990 57241990 single base substitution C T 5_prime_UTR_variant MELA-AU 16 57241990 57241990 single base substitution C T downstream_gene_variant MELA-AU 16 57241990 57241990 single base substitution C T exon_variant MELA-AU 16 57241990 57241990 single base substitution C T missense_variant S124L 371C>T MELA-AU 16 57241990 57241990 single base substitution C T missense_variant S155L 464C>T MELA-AU 16 57241990 57241990 single base substitution C T upstream_gene_variant MELA-AU 16 57242731 57242731 single base substitution T A downstream_gene_variant MELA-AU 16 57242731 57242731 single base substitution T A intron_variant MELA-AU 16 57242731 57242731 single base substitution T A upstream_gene_variant MELA-AU 16 57243398 57243399 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 57243398 57243399 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57243398 57243399 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 57243911 57243911 single base substitution T C downstream_gene_variant MELA-AU 16 57243911 57243911 single base substitution T C intron_variant MELA-AU 16 57243911 57243911 single base substitution T C upstream_gene_variant MELA-AU 16 57244011 57244011 single base substitution C T downstream_gene_variant MELA-AU 16 57244011 57244011 single base substitution C T intron_variant MELA-AU 16 57244011 57244011 single base substitution C T upstream_gene_variant MELA-AU 16 57244774 57244774 single base substitution C T downstream_gene_variant MELA-AU 16 57244774 57244774 single base substitution C T intron_variant MELA-AU 16 57244774 57244774 single base substitution C T upstream_gene_variant MELA-AU 16 57245807 57245807 single base substitution C T downstream_gene_variant MELA-AU 16 57245807 57245807 single base substitution C T intron_variant MELA-AU 16 57245807 57245807 single base substitution C T upstream_gene_variant MELA-AU 16 57246114 57246114 single base substitution G A downstream_gene_variant MELA-AU 16 57246114 57246114 single base substitution G A intron_variant MELA-AU 16 57246114 57246114 single base substitution G A upstream_gene_variant MELA-AU 16 57246502 57246502 single base substitution C T downstream_gene_variant MELA-AU 16 57246502 57246502 single base substitution C T intron_variant MELA-AU 16 57246502 57246502 single base substitution C T upstream_gene_variant MELA-AU 16 57246532 57246532 single base substitution C T downstream_gene_variant MELA-AU 16 57246532 57246532 single base substitution C T intron_variant MELA-AU 16 57246532 57246532 single base substitution C T upstream_gene_variant MELA-AU 16 57246776 57246776 single base substitution C T downstream_gene_variant MELA-AU 16 57246776 57246776 single base substitution C T intron_variant MELA-AU 16 57246776 57246776 single base substitution C T upstream_gene_variant MELA-AU 16 57246926 57246926 single base substitution G T downstream_gene_variant MELA-AU 16 57246926 57246926 single base substitution G T exon_variant MELA-AU 16 57246926 57246926 single base substitution G T stop_gained E187* 559G>T MELA-AU 16 57248015 57248015 single base substitution C T downstream_gene_variant MELA-AU 16 57248015 57248015 single base substitution C T intron_variant MELA-AU 16 57249936 57249936 single base substitution G A intron_variant MELA-AU 16 57249936 57249936 single base substitution G A upstream_gene_variant MELA-AU 16 57250718 57250718 single base substitution C T downstream_gene_variant MELA-AU 16 57250718 57250718 single base substitution C T intron_variant MELA-AU 16 57250718 57250718 single base substitution C T upstream_gene_variant MELA-AU 16 57251185 57251185 single base substitution C T downstream_gene_variant MELA-AU 16 57251185 57251185 single base substitution C T intron_variant MELA-AU 16 57251185 57251185 single base substitution C T upstream_gene_variant MELA-AU 16 57251251 57251251 single base substitution C T downstream_gene_variant MELA-AU 16 57251251 57251251 single base substitution C T intron_variant MELA-AU 16 57251251 57251251 single base substitution C T upstream_gene_variant MELA-AU 16 57251578 57251578 single base substitution C A downstream_gene_variant MELA-AU 16 57251578 57251578 single base substitution C A intron_variant MELA-AU 16 57251578 57251578 single base substitution C A upstream_gene_variant MELA-AU 16 57251836 57251836 single base substitution G A downstream_gene_variant MELA-AU 16 57251836 57251836 single base substitution G A intron_variant MELA-AU 16 57251836 57251836 single base substitution G A upstream_gene_variant MELA-AU 16 57252146 57252146 single base substitution T G downstream_gene_variant MELA-AU 16 57252146 57252146 single base substitution T G intron_variant MELA-AU 16 57252146 57252146 single base substitution T G upstream_gene_variant MELA-AU 16 57252369 57252369 single base substitution C T downstream_gene_variant MELA-AU 16 57252369 57252369 single base substitution C T intron_variant MELA-AU 16 57252369 57252369 single base substitution C T upstream_gene_variant MELA-AU 16 57252541 57252541 single base substitution C T downstream_gene_variant MELA-AU 16 57252541 57252541 single base substitution C T intron_variant MELA-AU 16 57252541 57252541 single base substitution C T upstream_gene_variant MELA-AU 16 57253338 57253338 single base substitution T A downstream_gene_variant MELA-AU 16 57253338 57253338 single base substitution T A intron_variant MELA-AU 16 57253338 57253338 single base substitution T A upstream_gene_variant MELA-AU 16 57253372 57253372 single base substitution C T downstream_gene_variant MELA-AU 16 57253372 57253372 single base substitution C T intron_variant MELA-AU 16 57253372 57253372 single base substitution C T upstream_gene_variant MELA-AU 16 57253453 57253453 single base substitution C T downstream_gene_variant MELA-AU 16 57253453 57253453 single base substitution C T intron_variant MELA-AU 16 57253453 57253453 single base substitution C T upstream_gene_variant MELA-AU 16 57254004 57254004 single base substitution C T downstream_gene_variant MELA-AU 16 57254004 57254004 single base substitution C T exon_variant MELA-AU 16 57254004 57254004 single base substitution C T intron_variant MELA-AU 16 57254004 57254004 single base substitution C T upstream_gene_variant MELA-AU 16 57254599 57254599 single base substitution C T downstream_gene_variant MELA-AU 16 57254599 57254599 single base substitution C T exon_variant MELA-AU 16 57254599 57254599 single base substitution C T intron_variant MELA-AU 16 57254599 57254599 single base substitution C T upstream_gene_variant MELA-AU 16 57254852 57254852 single base substitution C T downstream_gene_variant MELA-AU 16 57254852 57254852 single base substitution C T intron_variant MELA-AU 16 57254852 57254852 single base substitution C T upstream_gene_variant MELA-AU 16 57254884 57254884 single base substitution C T downstream_gene_variant MELA-AU 16 57254884 57254884 single base substitution C T intron_variant MELA-AU 16 57254884 57254884 single base substitution C T upstream_gene_variant MELA-AU 16 57255204 57255204 single base substitution T G downstream_gene_variant MELA-AU 16 57255204 57255204 single base substitution T G exon_variant MELA-AU 16 57255204 57255204 single base substitution T G synonymous_variant S346S 1038T>G MELA-AU 16 57255204 57255204 single base substitution T G upstream_gene_variant MELA-AU 16 57255708 57255709 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 57255708 57255709 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57255708 57255709 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 57255874 57255874 single base substitution C T downstream_gene_variant MELA-AU 16 57255874 57255874 single base substitution C T intron_variant MELA-AU 16 57255874 57255874 single base substitution C T upstream_gene_variant MELA-AU 16 57257297 57257297 single base substitution C T downstream_gene_variant MELA-AU 16 57257297 57257297 single base substitution C T intron_variant MELA-AU 16 57257297 57257297 single base substitution C T upstream_gene_variant MELA-AU 16 57257576 57257576 single base substitution C T downstream_gene_variant MELA-AU 16 57257576 57257576 single base substitution C T intron_variant MELA-AU 16 57257576 57257576 single base substitution C T upstream_gene_variant MELA-AU 16 57259013 57259013 single base substitution C T downstream_gene_variant MELA-AU 16 57259013 57259013 single base substitution C T intron_variant MELA-AU 16 57259904 57259904 single base substitution C T intron_variant MELA-AU 16 57260195 57260195 single base substitution C T intron_variant MELA-AU 16 57260847 57260847 single base substitution C T intron_variant MELA-AU 16 57261862 57261862 single base substitution C T intron_variant MELA-AU 16 57262523 57262523 single base substitution A T intron_variant MELA-AU 16 57262696 57262696 single base substitution C T intron_variant MELA-AU 16 57263727 57263727 single base substitution C T intron_variant MELA-AU 16 57263741 57263741 single base substitution C T intron_variant MELA-AU 16 57263957 57263957 single base substitution C T intron_variant MELA-AU 16 57264333 57264333 single base substitution C T intron_variant MELA-AU 16 57264358 57264358 single base substitution C T intron_variant MELA-AU 16 57264361 57264361 single base substitution C T intron_variant MELA-AU 16 57264803 57264803 single base substitution C T intron_variant MELA-AU 16 57264966 57264966 single base substitution C T intron_variant MELA-AU 16 57265244 57265245 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 57265545 57265545 single base substitution T G intron_variant MELA-AU 16 57265700 57265700 single base substitution G A intron_variant MELA-AU 16 57265877 57265877 single base substitution T A intron_variant MELA-AU 16 57266599 57266599 single base substitution C T intron_variant MELA-AU 16 57266724 57266724 single base substitution C T intron_variant MELA-AU 16 57267404 57267404 single base substitution C G intron_variant MELA-AU 16 57267619 57267619 single base substitution C T intron_variant MELA-AU 16 57267704 57267704 single base substitution C T intron_variant MELA-AU 16 57267809 57267809 single base substitution C T intron_variant MELA-AU 16 57267850 57267850 single base substitution C T intron_variant MELA-AU 16 57267968 57267968 single base substitution G A intron_variant MELA-AU 16 57268152 57268152 single base substitution C T intron_variant MELA-AU 16 57268192 57268192 single base substitution C T intron_variant MELA-AU 16 57268508 57268508 single base substitution C T intron_variant MELA-AU 16 57269052 57269052 single base substitution C T exon_variant MELA-AU 16 57269052 57269052 single base substitution C T synonymous_variant L516L 1546C>T MELA-AU 16 57269426 57269426 single base substitution C T intron_variant MELA-AU 16 57269593 57269593 single base substitution C T intron_variant MELA-AU 16 57269813 57269813 single base substitution C T intron_variant MELA-AU 16 57269883 57269883 single base substitution C T intron_variant MELA-AU 16 57270101 57270101 single base substitution C T intron_variant MELA-AU 16 57270454 57270454 single base substitution C T intron_variant MELA-AU 16 57270608 57270608 single base substitution G A intron_variant MELA-AU 16 57271249 57271249 single base substitution T C intron_variant MELA-AU 16 57272158 57272158 single base substitution T C intron_variant MELA-AU 16 57273055 57273055 single base substitution A T 3_prime_UTR_variant MELA-AU 16 57273055 57273055 single base substitution A T downstream_gene_variant MELA-AU 16 57273055 57273055 single base substitution A T exon_variant MELA-AU 16 57273063 57273063 single base substitution C T 3_prime_UTR_variant MELA-AU 16 57273063 57273063 single base substitution C T downstream_gene_variant MELA-AU 16 57273063 57273063 single base substitution C T exon_variant MELA-AU 16 57273088 57273088 single base substitution C T 3_prime_UTR_variant MELA-AU 16 57273088 57273088 single base substitution C T downstream_gene_variant MELA-AU 16 57273088 57273088 single base substitution C T exon_variant MELA-AU 16 57274225 57274225 single base substitution T G 3_prime_UTR_variant MELA-AU 16 57274225 57274225 single base substitution T G downstream_gene_variant MELA-AU 16 57274225 57274225 single base substitution T G exon_variant MELA-AU 16 57274266 57274266 single base substitution C A 3_prime_UTR_variant MELA-AU 16 57274266 57274266 single base substitution C A downstream_gene_variant MELA-AU 16 57274266 57274266 single base substitution C A exon_variant MELA-AU 16 57274268 57274268 single base substitution C A 3_prime_UTR_variant MELA-AU 16 57274268 57274268 single base substitution C A downstream_gene_variant MELA-AU 16 57274268 57274268 single base substitution C A exon_variant MELA-AU 16 57274391 57274391 single base substitution C T downstream_gene_variant MELA-AU 16 57274538 57274538 single base substitution A G downstream_gene_variant MELA-AU 16 57276267 57276267 single base substitution C T downstream_gene_variant MELA-AU 16 57276629 57276629 single base substitution C T downstream_gene_variant MELA-AU 16 57276848 57276848 single base substitution C T downstream_gene_variant MELA-AU 16 57277938 57277939 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 57278538 57278538 single base substitution C T downstream_gene_variant MELA-AU 16 57278842 57278842 deletion of <=200bp A - downstream_gene_variant MELA-AU 16 57278894 57278894 single base substitution C T downstream_gene_variant MELA-AU 16 57278896 57278896 single base substitution C T downstream_gene_variant MELA-AU 16 57278899 57278900 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 16 57278911 57278911 single base substitution C T downstream_gene_variant MELA-AU 16 57278937 57278937 single base substitution C T downstream_gene_variant ORCA-IN 16 57260250 57260250 single base substitution C A intron_variant ORCA-IN 16 57266618 57266618 single base substitution C T intron_variant ORCA-IN 16 57272841 57272841 single base substitution G A exon_variant ORCA-IN 16 57272841 57272841 single base substitution G A missense_variant R562H 1685G>A ORCA-IN 16 57274395 57274395 single base substitution A G downstream_gene_variant ORCA-IN 16 57277367 57277367 single base substitution C G downstream_gene_variant OV-AU 16 57217532 57217532 single base substitution A C upstream_gene_variant OV-AU 16 57222819 57222819 single base substitution G A intron_variant OV-AU 16 57225071 57225071 single base substitution T C intron_variant OV-AU 16 57226958 57226958 single base substitution T A intron_variant OV-AU 16 57229347 57229347 single base substitution C T intron_variant OV-AU 16 57239073 57239073 single base substitution G T exon_variant OV-AU 16 57239073 57239073 single base substitution G T intron_variant OV-AU 16 57239073 57239073 single base substitution G T upstream_gene_variant OV-AU 16 57239891 57239891 single base substitution A G downstream_gene_variant OV-AU 16 57239891 57239891 single base substitution A G intron_variant OV-AU 16 57239891 57239891 single base substitution A G upstream_gene_variant OV-AU 16 57240146 57240146 single base substitution T C downstream_gene_variant OV-AU 16 57240146 57240146 single base substitution T C intron_variant OV-AU 16 57240146 57240146 single base substitution T C upstream_gene_variant OV-AU 16 57240589 57240589 single base substitution C G downstream_gene_variant OV-AU 16 57240589 57240589 single base substitution C G intron_variant OV-AU 16 57240589 57240589 single base substitution C G upstream_gene_variant OV-AU 16 57245054 57245054 single base substitution A T downstream_gene_variant OV-AU 16 57245054 57245054 single base substitution A T intron_variant OV-AU 16 57245054 57245054 single base substitution A T upstream_gene_variant OV-AU 16 57273832 57273832 single base substitution T C 3_prime_UTR_variant OV-AU 16 57273832 57273832 single base substitution T C downstream_gene_variant OV-AU 16 57273832 57273832 single base substitution T C exon_variant OV-AU 16 57274350 57274350 single base substitution T C 3_prime_UTR_variant OV-AU 16 57274350 57274350 single base substitution T C downstream_gene_variant OV-AU 16 57274350 57274350 single base substitution T C exon_variant OV-AU 16 57275120 57275120 single base substitution G C downstream_gene_variant OV-AU 16 57278561 57278561 single base substitution A C downstream_gene_variant PACA-AU 16 57219656 57219656 single base substitution C A upstream_gene_variant PACA-AU 16 57219682 57219682 single base substitution G A upstream_gene_variant PACA-AU 16 57220142 57220142 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 16 57220142 57220142 single base substitution T G upstream_gene_variant PACA-AU 16 57221565 57221565 single base substitution C G intron_variant PACA-AU 16 57223491 57223495 deletion of <=200bp TTTTC - intron_variant PACA-AU 16 57238734 57238734 single base substitution G A exon_variant PACA-AU 16 57238734 57238734 single base substitution G A intron_variant PACA-AU 16 57238734 57238734 single base substitution G A missense_variant S55N 164G>A PACA-AU 16 57238734 57238734 single base substitution G A upstream_gene_variant PACA-AU 16 57241289 57241289 single base substitution G A downstream_gene_variant PACA-AU 16 57241289 57241289 single base substitution G A intron_variant PACA-AU 16 57241289 57241289 single base substitution G A upstream_gene_variant PACA-AU 16 57246070 57246070 single base substitution A T downstream_gene_variant PACA-AU 16 57246070 57246070 single base substitution A T intron_variant PACA-AU 16 57246070 57246070 single base substitution A T upstream_gene_variant PACA-AU 16 57265044 57265044 single base substitution A C intron_variant PACA-AU 16 57268386 57268386 deletion of <=200bp T - intron_variant PACA-AU 16 57271621 57271621 single base substitution T A intron_variant PACA-AU 16 57271623 57271623 single base substitution A T intron_variant PACA-AU 16 57273526 57273526 single base substitution T G 3_prime_UTR_variant PACA-AU 16 57273526 57273526 single base substitution T G downstream_gene_variant PACA-AU 16 57273526 57273526 single base substitution T G exon_variant PACA-AU 16 57277304 57277304 single base substitution C T downstream_gene_variant PACA-AU 16 57278113 57278113 single base substitution C A downstream_gene_variant PACA-CA 16 57226251 57226251 single base substitution A G intron_variant PACA-CA 16 57229402 57229402 single base substitution C A intron_variant PACA-CA 16 57233237 57233237 single base substitution T C intron_variant PACA-CA 16 57234391 57234391 single base substitution C T intron_variant PACA-CA 16 57234391 57234391 single base substitution C T upstream_gene_variant PACA-CA 16 57236788 57236788 insertion of <=200bp - TTT intron_variant PACA-CA 16 57236788 57236788 insertion of <=200bp - TTT upstream_gene_variant PACA-CA 16 57237923 57237923 insertion of <=200bp - T intron_variant PACA-CA 16 57237923 57237923 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 57239957 57239957 single base substitution C T downstream_gene_variant PACA-CA 16 57239957 57239957 single base substitution C T intron_variant PACA-CA 16 57239957 57239957 single base substitution C T upstream_gene_variant PACA-CA 16 57246784 57246784 single base substitution C G downstream_gene_variant PACA-CA 16 57246784 57246784 single base substitution C G intron_variant PACA-CA 16 57246784 57246784 single base substitution C G upstream_gene_variant PACA-CA 16 57248219 57248219 single base substitution G C intron_variant PACA-CA 16 57260608 57260608 single base substitution G T intron_variant PACA-CA 16 57262424 57262424 single base substitution C T intron_variant PACA-CA 16 57271591 57271591 insertion of <=200bp - T intron_variant PAEN-AU 16 57265600 57265600 single base substitution C T intron_variant PAEN-IT 16 57246452 57246452 single base substitution C A downstream_gene_variant PAEN-IT 16 57246452 57246452 single base substitution C A intron_variant PAEN-IT 16 57246452 57246452 single base substitution C A upstream_gene_variant PAEN-IT 16 57249351 57249351 single base substitution G A intron_variant PAEN-IT 16 57249351 57249351 single base substitution G A upstream_gene_variant PBCA-DE 16 57216502 57216502 single base substitution T A upstream_gene_variant PBCA-DE 16 57220058 57220058 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant PBCA-DE 16 57220058 57220058 single base substitution T G upstream_gene_variant PBCA-DE 16 57231551 57231552 deletion of <=200bp AC - intron_variant PBCA-DE 16 57233212 57233212 single base substitution C A intron_variant PBCA-DE 16 57238008 57238008 deletion of <=200bp T - intron_variant PBCA-DE 16 57238008 57238008 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 57255573 57255573 single base substitution G T downstream_gene_variant PBCA-DE 16 57255573 57255573 single base substitution G T intron_variant PBCA-DE 16 57255573 57255573 single base substitution G T upstream_gene_variant PBCA-DE 16 57257225 57257225 single base substitution G A downstream_gene_variant PBCA-DE 16 57257225 57257225 single base substitution G A intron_variant PBCA-DE 16 57257225 57257225 single base substitution G A upstream_gene_variant PBCA-DE 16 57262780 57262780 insertion of <=200bp - T intron_variant PBCA-DE 16 57266819 57266820 deletion of <=200bp TG - intron_variant PBCA-DE 16 57268167 57268167 single base substitution C A intron_variant PBCA-DE 16 57269207 57269207 single base substitution C G intron_variant PBCA-DE 16 57271034 57271034 single base substitution G A intron_variant PBCA-DE 16 57274276 57274277 deletion of <=200bp AT - 3_prime_UTR_variant PBCA-DE 16 57274276 57274277 deletion of <=200bp AT - downstream_gene_variant PBCA-DE 16 57274276 57274277 deletion of <=200bp AT - exon_variant PRAD-CA 16 57243961 57243961 single base substitution T C downstream_gene_variant PRAD-CA 16 57243961 57243961 single base substitution T C intron_variant PRAD-CA 16 57243961 57243961 single base substitution T C upstream_gene_variant PRAD-CA 16 57273525 57273525 single base substitution G T 3_prime_UTR_variant PRAD-CA 16 57273525 57273525 single base substitution G T downstream_gene_variant PRAD-CA 16 57273525 57273525 single base substitution G T exon_variant PRAD-UK 16 57226249 57226249 single base substitution G A intron_variant PRAD-UK 16 57247147 57247147 single base substitution T C downstream_gene_variant PRAD-UK 16 57247147 57247147 single base substitution T C intron_variant PRAD-UK 16 57251681 57251681 single base substitution C G downstream_gene_variant PRAD-UK 16 57251681 57251681 single base substitution C G intron_variant PRAD-UK 16 57251681 57251681 single base substitution C G upstream_gene_variant PRAD-UK 16 57254057 57254057 single base substitution T C downstream_gene_variant PRAD-UK 16 57254057 57254057 single base substitution T C exon_variant PRAD-UK 16 57254057 57254057 single base substitution T C intron_variant PRAD-UK 16 57254057 57254057 single base substitution T C upstream_gene_variant PRAD-UK 16 57264350 57264350 single base substitution G T intron_variant PRAD-UK 16 57264365 57264365 single base substitution T G intron_variant PRAD-UK 16 57278414 57278414 single base substitution C A downstream_gene_variant PRAD-US 16 57243065 57243065 single base substitution C T downstream_gene_variant PRAD-US 16 57243065 57243065 single base substitution C T exon_variant PRAD-US 16 57243065 57243065 single base substitution C T missense_variant T161I 482C>T PRAD-US 16 57243065 57243065 single base substitution C T missense_variant T37I 110C>T PRAD-US 16 57243065 57243065 single base substitution C T upstream_gene_variant RECA-EU 16 57220838 57220838 single base substitution C T 5_prime_UTR_variant RECA-EU 16 57220838 57220838 single base substitution C T intron_variant RECA-EU 16 57224221 57224221 single base substitution C T intron_variant RECA-EU 16 57232666 57232666 single base substitution C T intron_variant RECA-EU 16 57243323 57243323 single base substitution T A downstream_gene_variant RECA-EU 16 57243323 57243323 single base substitution T A intron_variant RECA-EU 16 57243323 57243323 single base substitution T A upstream_gene_variant RECA-EU 16 57267361 57267361 single base substitution G C intron_variant RECA-EU 16 57276718 57276718 single base substitution C G downstream_gene_variant SKCA-BR 16 57217145 57217145 single base substitution C T upstream_gene_variant SKCA-BR 16 57220000 57220000 single base substitution C T upstream_gene_variant SKCA-BR 16 57220118 57220118 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 57220118 57220118 single base substitution C T upstream_gene_variant SKCA-BR 16 57220119 57220119 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 16 57220119 57220119 single base substitution C T upstream_gene_variant SKCA-BR 16 57220523 57220523 single base substitution A G 5_prime_UTR_variant SKCA-BR 16 57220523 57220523 single base substitution A G exon_variant SKCA-BR 16 57220523 57220523 single base substitution A G intron_variant SKCA-BR 16 57225901 57225901 single base substitution G A intron_variant SKCA-BR 16 57229932 57229932 insertion of <=200bp - CAA intron_variant SKCA-BR 16 57229932 57229932 insertion of <=200bp - CA intron_variant SKCA-BR 16 57229946 57229946 insertion of <=200bp - AAT intron_variant SKCA-BR 16 57233232 57233232 single base substitution C T intron_variant SKCA-BR 16 57234269 57234269 single base substitution T C intron_variant SKCA-BR 16 57234269 57234269 single base substitution T C upstream_gene_variant SKCA-BR 16 57234869 57234869 single base substitution G A intron_variant SKCA-BR 16 57234869 57234869 single base substitution G A upstream_gene_variant SKCA-BR 16 57234870 57234870 single base substitution G A intron_variant SKCA-BR 16 57234870 57234870 single base substitution G A upstream_gene_variant SKCA-BR 16 57235006 57235006 single base substitution G A intron_variant SKCA-BR 16 57235006 57235006 single base substitution G A upstream_gene_variant SKCA-BR 16 57235010 57235010 single base substitution G A intron_variant SKCA-BR 16 57235010 57235010 single base substitution G A upstream_gene_variant SKCA-BR 16 57235036 57235036 single base substitution A T intron_variant SKCA-BR 16 57235036 57235036 single base substitution A T upstream_gene_variant SKCA-BR 16 57235076 57235076 single base substitution T G intron_variant SKCA-BR 16 57235076 57235076 single base substitution T G upstream_gene_variant SKCA-BR 16 57238938 57238938 single base substitution G T exon_variant SKCA-BR 16 57238938 57238938 single base substitution G T intron_variant SKCA-BR 16 57238938 57238938 single base substitution G T upstream_gene_variant SKCA-BR 16 57242311 57242312 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 16 57242311 57242312 deletion of <=200bp TA - intron_variant SKCA-BR 16 57242311 57242312 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 16 57245088 57245088 single base substitution C T downstream_gene_variant SKCA-BR 16 57245088 57245088 single base substitution C T intron_variant SKCA-BR 16 57245088 57245088 single base substitution C T upstream_gene_variant SKCA-BR 16 57245178 57245178 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 16 57245178 57245178 insertion of <=200bp - TA intron_variant SKCA-BR 16 57245178 57245178 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 16 57245651 57245651 single base substitution T A downstream_gene_variant SKCA-BR 16 57245651 57245651 single base substitution T A intron_variant SKCA-BR 16 57245651 57245651 single base substitution T A upstream_gene_variant SKCA-BR 16 57255467 57255467 single base substitution C T downstream_gene_variant SKCA-BR 16 57255467 57255467 single base substitution C T intron_variant SKCA-BR 16 57255467 57255467 single base substitution C T upstream_gene_variant SKCA-BR 16 57265220 57265220 single base substitution C T exon_variant SKCA-BR 16 57265220 57265220 single base substitution C T synonymous_variant I506I 1518C>T SKCA-BR 16 57267600 57267600 single base substitution C T intron_variant SKCA-BR 16 57269927 57269927 single base substitution A C intron_variant SKCA-BR 16 57269939 57269939 single base substitution A C intron_variant SKCM-US 16 57238576 57238576 single base substitution C T exon_variant SKCM-US 16 57238576 57238576 single base substitution C T intron_variant SKCM-US 16 57238576 57238576 single base substitution C T synonymous_variant I2I 6C>T SKCM-US 16 57238576 57238576 single base substitution C T upstream_gene_variant SKCM-US 16 57238585 57238585 single base substitution T G exon_variant SKCM-US 16 57238585 57238585 single base substitution T G intron_variant SKCM-US 16 57238585 57238585 single base substitution T G synonymous_variant G5G 15T>G SKCM-US 16 57238585 57238585 single base substitution T G upstream_gene_variant SKCM-US 16 57238655 57238655 single base substitution C T exon_variant SKCM-US 16 57238655 57238655 single base substitution C T intron_variant SKCM-US 16 57238655 57238655 single base substitution C T missense_variant H29Y 85C>T SKCM-US 16 57238655 57238655 single base substitution C T upstream_gene_variant SKCM-US 16 57243085 57243085 single base substitution C T downstream_gene_variant SKCM-US 16 57243085 57243085 single base substitution C T exon_variant SKCM-US 16 57243085 57243085 single base substitution C T missense_variant P168S 502C>T SKCM-US 16 57243085 57243085 single base substitution C T missense_variant P44S 130C>T SKCM-US 16 57243085 57243085 single base substitution C T upstream_gene_variant SKCM-US 16 57250944 57250944 single base substitution C T downstream_gene_variant SKCM-US 16 57250944 57250944 single base substitution C T exon_variant SKCM-US 16 57250944 57250944 single base substitution C T missense_variant L300F 898C>T SKCM-US 16 57250944 57250944 single base substitution C T upstream_gene_variant SKCM-US 16 57254647 57254647 single base substitution T C downstream_gene_variant SKCM-US 16 57254647 57254647 single base substitution T C exon_variant SKCM-US 16 57254647 57254647 single base substitution T C missense_variant L302S 905T>C SKCM-US 16 57254647 57254647 single base substitution T C upstream_gene_variant SKCM-US 16 57269052 57269052 single base substitution C T exon_variant SKCM-US 16 57269052 57269052 single base substitution C T synonymous_variant L516L 1546C>T SKCM-US 16 57272840 57272840 single base substitution C T exon_variant SKCM-US 16 57272840 57272840 single base substitution C T missense_variant R562C 1684C>T SKCM-US 16 57272875 57272875 single base substitution T C exon_variant SKCM-US 16 57272875 57272875 single base substitution T C synonymous_variant S573S 1719T>C STAD-US 16 57238591 57238591 single base substitution C T exon_variant STAD-US 16 57238591 57238591 single base substitution C T intron_variant STAD-US 16 57238591 57238591 single base substitution C T synonymous_variant A7A 21C>T STAD-US 16 57238591 57238591 single base substitution C T upstream_gene_variant STAD-US 16 57243062 57243062 insertion of <=200bp - T downstream_gene_variant STAD-US 16 57243062 57243062 insertion of <=200bp - T exon_variant STAD-US 16 57243062 57243062 insertion of <=200bp - T frameshift_variant I160I? STAD-US 16 57243062 57243062 insertion of <=200bp - T frameshift_variant I36I? STAD-US 16 57243062 57243062 insertion of <=200bp - T upstream_gene_variant STAD-US 16 57246908 57246908 single base substitution A G downstream_gene_variant STAD-US 16 57246908 57246908 single base substitution A G exon_variant STAD-US 16 57246908 57246908 single base substitution A G missense_variant I181V 541A>G STAD-US 16 57246908 57246908 single base substitution A G upstream_gene_variant STAD-US 16 57255240 57255240 single base substitution C T downstream_gene_variant STAD-US 16 57255240 57255240 single base substitution C T exon_variant STAD-US 16 57255240 57255240 single base substitution C T synonymous_variant A358A 1074C>T STAD-US 16 57255240 57255240 single base substitution C T upstream_gene_variant STAD-US 16 57269043 57269043 single base substitution C T exon_variant STAD-US 16 57269043 57269043 single base substitution C T missense_variant R513C 1537C>T THCA-US 16 57238772 57238772 single base substitution G A exon_variant THCA-US 16 57238772 57238772 single base substitution G A intron_variant THCA-US 16 57238772 57238772 single base substitution G A missense_variant V68I 202G>A THCA-US 16 57238772 57238772 single base substitution G A upstream_gene_variant UCEC-US 16 57238576 57238576 single base substitution C T exon_variant UCEC-US 16 57238576 57238576 single base substitution C T intron_variant UCEC-US 16 57238576 57238576 single base substitution C T synonymous_variant I2I 6C>T UCEC-US 16 57238576 57238576 single base substitution C T upstream_gene_variant UCEC-US 16 57238814 57238814 single base substitution C T exon_variant UCEC-US 16 57238814 57238814 single base substitution C T intron_variant UCEC-US 16 57238814 57238814 single base substitution C T missense_variant R82W 244C>T UCEC-US 16 57238814 57238814 single base substitution C T upstream_gene_variant UCEC-US 16 57246987 57246987 single base substitution G A downstream_gene_variant UCEC-US 16 57246987 57246987 single base substitution G A exon_variant UCEC-US 16 57246987 57246987 single base substitution G A missense_variant G207D 620G>A UCEC-US 16 57261295 57261295 single base substitution T C exon_variant UCEC-US 16 57261295 57261295 single base substitution T C synonymous_variant Y401Y 1203T>C UCEC-US 16 57261310 57261310 single base substitution G A exon_variant UCEC-US 16 57261310 57261310 single base substitution G A synonymous_variant Q406Q 1218G>A UCEC-US 16 57265151 57265151 single base substitution C A exon_variant UCEC-US 16 57265151 57265151 single base substitution C A missense_variant F483L 1449C>A UCEC-US 16 57272859 57272859 single base substitution G A exon_variant UCEC-US 16 57272859 57272859 single base substitution G A missense_variant R568K 1703G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A2MJ-06 COSM3510470 c.85C>T p.H29Y Substitution - Missense 16:57204743-57204743 + BCM321T COSM4949982 c.1530-2A>T p.? Unknown 16:57235122-57235122 + TCGA-AP-A059-01 COSM971813 c.1218G>A p.Q406Q Substitution - coding silent 16:57227398-57227398 + KM12 COSM1679113 c.1172G>A p.G391D Substitution - Missense 16:57227352-57227352 + TCGA-CZ-5986-01 COSM471857 c.1055G>C p.C352S Substitution - Missense 16:57221309-57221309 + BN42 COSM1609445 c.1687A>C p.K563Q Substitution - Missense 16:57238931-57238931 + T3535 COSM4722958 c.108C>T p.A36A Substitution - coding silent 16:57204766-57204766 + PTC-7C COSM4129142 c.1086C>A p.Y362* Substitution - Nonsense 16:57221340-57221340 + pfg043T COSM4755945 c.1471T>G p.F491V Substitution - Missense 16:57231261-57231261 + KM12 COSM1679113 c.1172G>A p.G391D Substitution - Missense 16:57227352-57227352 + TCGA-CZ-4856-01 COSM471859 c.1466T>C p.M489T Substitution - Missense 16:57231256-57231256 + HCC066T COSM5821439 c.264A>T p.R88R Substitution - coding silent 16:57204922-57204922 + ESCC_133 COSM5642510 c.1088A>G p.Y363C Substitution - Missense 16:57221342-57221342 + TCGA-HU-8602-01 COSM4061393 c.21C>T p.A7A Substitution - coding silent 16:57204679-57204679 + YUPAT COSM1709213 c.259G>A p.G87S Substitution - Missense 16:57204917-57204917 + EGC15 COSM2836316 c.1051C>T p.R351C Substitution - Missense 16:57221305-57221305 + PT52 COSM5940633 c.1039T>A p.F347I Substitution - Missense 16:57221293-57221293 + TCGA-CM-5868-01 COSM1378544 c.1544C>T p.A515V Substitution - Missense 16:57235138-57235138 + ESO-536 COSM1264637 c.730C>G p.L244V Substitution - Missense 16:57216134-57216134 + TCGA-DB-A64X-01 COSM3969605 c.235G>A p.D79N Substitution - Missense 16:57204893-57204893 + 35M COSM5582413 c.101G>C p.G34A Substitution - Missense 16:57204759-57204759 + HCC11T COSM1609444 c.424G>T p.V142F Substitution - Missense 16:57209095-57209095 + TCGA-FS-A4FC-06 COSM971809 c.6C>T p.I2I Substitution - coding silent 16:57204664-57204664 + TCGA-BT-A0YX-01 COSM416966 c.1606G>A p.D536N Substitution - Missense 16:57235200-57235200 + TCGA-43-3920-01 COSM704057 c.825G>T p.L275F Substitution - Missense 16:57216959-57216959 + TCGA-BR-4280-01 COSM4061394 c.541A>G p.I181V Substitution - Missense 16:57212996-57212996 + TCGA-AK-3430-01 COSM471856 c.378A>G p.I126M Substitution - Missense 16:57208085-57208085 + 447 COSM4435090 c.69C>T p.L23L Substitution - coding silent 16:57204727-57204727 + YUROC COSM5385055 c.1648G>A p.D550N Substitution - Missense 16:57238892-57238892 + TCGA-AX-A05Z-01 COSM971812 c.1203T>C p.Y401Y Substitution - coding silent 16:57227383-57227383 + TCGA-CZ-5986-01 COSM471858 c.1057A>T p.T353S Substitution - Missense 16:57221311-57221311 + CHOL20 COSM1744300 c.898C>G p.L300V Substitution - Missense 16:57217032-57217032 + HX19T COSM1609445 c.1687A>C p.K563Q Substitution - Missense 16:57238931-57238931 + TCGA-DW-7837-01 COSM3988540 c.1430A>G p.N477S Substitution - Missense 16:57231220-57231220 + TCGA-34-5236-01 COSM704055 c.1464T>G p.S488S Substitution - coding silent 16:57231254-57231254 + CHEWS014 COSM4579106 c.404A>C p.D135A Substitution - Missense 16:57209075-57209075 + KPOPBR-03-T COSM5965554 c.1014A>G p.L338L Substitution - coding silent 16:57220844-57220844 + LC_C6 COSM1189279 c.233G>A p.R78Q Substitution - Missense 16:57204891-57204891 + BK0043 COSM4187567 c.1634+1G>T p.? Unknown 16:57235229-57235229 + TCGA-AX-A05Z-01 COSM971814 c.1449C>A p.F483L Substitution - Missense 16:57231239-57231239 + LUAD-LC15C COSM341731 c.145G>A p.D49N Substitution - Missense 16:57204803-57204803 + PT52 COSM5940634 c.926C>T p.T309I Substitution - Missense 16:57220756-57220756 + TCGA-EE-A20C-06 COSM971809 c.6C>T p.I2I Substitution - coding silent 16:57204664-57204664 + 2530678 COSM5885634 c.1518C>T p.I506I Substitution - coding silent 16:57231308-57231308 + 8057501 COSM3387500 c.164G>A p.S55N Substitution - Missense 16:57204822-57204822 + TCGA-EE-A2M5-06 COSM3510474 c.1546C>T p.L516L Substitution - coding silent 16:57235140-57235140 + Pat_11_A COSM5851093 c.334C>T p.R112W Substitution - Missense 16:57204992-57204992 + TCGA-23-1122-01 COSM80474 c.1248T>A p.P416P Substitution - coding silent 16:57227428-57227428 + BCM321T COSM4949982 c.1530-2A>T p.? Unknown 16:57235122-57235122 + LUAD-S01405 COSM398947 c.431C>G p.S144C Substitution - Missense 16:57209102-57209102 + HCT15 COSM2836310 c.49C>A p.Q17K Substitution - Missense 16:57204707-57204707 + LC_C7 COSM1189280 c.376A>G p.I126V Substitution - Missense 16:57208083-57208083 + T3446 COSM4722963 c.1319_1321delTCT p.F442delF Deletion - In frame 16:57230756-57230758 + T3446 COSM4722962 c.900C>A p.L300L Substitution - coding silent 16:57217034-57217034 + TCGA-BH-A18G-01 COSM3818147 c.1654G>A p.A552T Substitution - Missense 16:57238898-57238898 + T3498 COSM4722960 c.641C>T p.A214V Substitution - Missense 16:57213096-57213096 + T2225 COSM4722961 c.819C>T p.V273V Substitution - coding silent 16:57216953-57216953 + DLD1 COSM2836310 c.49C>A p.Q17K Substitution - Missense 16:57204707-57204707 + TCGA-AP-A059-01 COSM971809 c.6C>T p.I2I Substitution - coding silent 16:57204664-57204664 + TCGA-AA-3939-01 COSM296723 c.1141G>A p.D381N Substitution - Missense 16:57221395-57221395 + TCGA-EJ-5519-01 COSM1128921 c.482C>T p.T161I Substitution - Missense 16:57209153-57209153 + 201 COSM3723437 c.1379C>G p.S460C Substitution - Missense 16:57231169-57231169 + TCGA-A5-A0GW-01 COSM971811 c.620G>A p.G207D Substitution - Missense 16:57213075-57213075 + TCGA-60-2724-01 COSM704056 c.1178G>A p.G393E Substitution - Missense 16:57227358-57227358 + TCGA-EB-A24D-01 COSM3510472 c.898C>T p.L300F Substitution - Missense 16:57217032-57217032 + TCGA-EE-A183-06 COSM3510471 c.502C>T p.P168S Substitution - Missense 16:57209173-57209173 + TCGA-BR-8360-01 COSM4061396 c.1537C>T p.R513C Substitution - Missense 16:57235131-57235131 + TCGA-C4-A0EZ-01 COSM416968 c.838A>G p.N280D Substitution - Missense 16:57216972-57216972 + TCGA-D9-A6EC-06 COSM4404511 c.15T>G p.G5G Substitution - coding silent 16:57204673-57204673 + HCC11 COSM1609444 c.424G>T p.V142F Substitution - Missense 16:57209095-57209095 + TCGA-DK-A3IN-01 COSM3794932 c.772G>T p.E258* Substitution - Nonsense 16:57216906-57216906 + TCGA-AA-3966-01 COSM273207 c.1338C>T p.N446N Substitution - coding silent 16:57230775-57230775 + TCGA-D1-A167-01 COSM971810 c.244C>T p.R82W Substitution - Missense 16:57204902-57204902 + LS411 COSM2836318 c.1117A>G p.M373V Substitution - Missense 16:57221371-57221371 + RMS109_ COSM4986994 c.987G>C p.E329D Substitution - Missense 16:57220817-57220817 + TCGA-AG-3892-01 COSM257925 c.550T>G p.L184V Substitution - Missense 16:57213005-57213005 + TCGA-BP-4759-01 COSM3361814 c.1213C>A p.R405R Substitution - coding silent 16:57227393-57227393 + BN42T COSM1609445 c.1687A>C p.K563Q Substitution - Missense 16:57238931-57238931 + TCGA-FR-A3YO-06 COSM3510475 c.1684C>T p.R562C Substitution - Missense 16:57238928-57238928 + 197 COSM145896 c.1564A>G p.I522V Substitution - Missense 16:57235158-57235158 + 1517_PT COSM5754875 c.1633A>G p.S545G Substitution - Missense 16:57235227-57235227 + CSCC-29-T COSM4467468 c.1491C>A p.Y497* Substitution - Nonsense 16:57231281-57231281 + 197-01-3TD COSM145896 c.1564A>G p.I522V Substitution - Missense 16:57235158-57235158 + T2963 COSM4722959 c.139C>T p.R47* Substitution - Nonsense 16:57204797-57204797 + TCGA-D1-A103-01 COSM971815 c.1703G>A p.R568K Substitution - Missense 16:57238947-57238947 + TCGA-EE-A3AE-06 COSM3510476 c.1719T>C p.S573S Substitution - coding silent 16:57238963-57238963 + TCGA-AD-6895-01 COSM1378543 c.1491C>T p.Y497Y Substitution - coding silent 16:57231281-57231281 + TCGA-EL-A3T1-01 COSM3370474 c.202G>A p.V68I Substitution - Missense 16:57204860-57204860 + LUAD-S01405 COSM398948 c.460C>G p.P154A Substitution - Missense 16:57209131-57209131 + TCGA-GN-A266-06 COSM3510473 c.905T>C p.L302S Substitution - Missense 16:57220735-57220735 + LIM1215 COSM4335971 c.1384delT p.F463fs*27 Deletion - Frameshift 16:57231174-57231174 + S02296 COSM5689423 c.960C>T p.A320A Substitution - coding silent 16:57220790-57220790 + KM12 COSM2836321 c.1505C>T p.A502V Substitution - Missense 16:57231295-57231295 + T2225 COSM1744300 c.898C>G p.L300V Substitution - Missense 16:57217032-57217032 + HCC2998 COSM1679114 c.1521T>G p.I507M Substitution - Missense 16:57231311-57231311 + TCGA-Q1-A5R2-01 COSM4850463 c.910G>A p.E304K Substitution - Missense 16:57220740-57220740 + RMS106_ COSM4986653 c.812G>A p.R271Q Substitution - Missense 16:57216946-57216946 + TCGA-BT-A42C-01 COSM4390300 c.375G>A p.M125I Substitution - Missense 16:57208082-57208082 + TCGA-CD-A4MG-01 COSM4061395 c.1074C>T p.A358A Substitution - coding silent 16:57221328-57221328 + TCGA-37-4141-01 COSM703353 c.444T>G p.V148V Substitution - coding silent 16:57209115-57209115 + PT46 COSM5943943 c.713delC p.H239fs*23 Deletion - Frameshift 16:57216117-57216117 + Pat_06_A COSM5851094 c.1055_1056delGC p.C352fs*12 Deletion - Frameshift 16:57221309-57221310 + TCGA-D1-A15X-01 COSM971809 c.6C>T p.I2I Substitution - coding silent 16:57204664-57204664 + TCGA-37-3783-01 COSM703354 c.263G>A p.R88Q Substitution - Missense 16:57204921-57204921 + 35M COSM971809 c.6C>T p.I2I Substitution - coding silent 16:57204664-57204664 + TCGA-BT-A0YX-01 COSM416967 c.1597G>A p.E533K Substitution - Missense 16:57235191-57235191 + YUGASP COSM1709214 c.1037C>T p.S346F Substitution - Missense 16:57221291-57221291 + pfg181T COSM4755943 c.315G>T p.L105F Substitution - Missense 16:57204973-57204973 + TCGA-EA-A50E-01 COSM4822244 c.1306G>A p.E436K Substitution - Missense 16:57230743-57230743 + OSCC-GB_01100111 COSM4888348 c.1685G>A p.R562H Substitution - Missense 16:57238929-57238929 + Pat_41_B COSM5851092 c.122G>A p.G41D Substitution - Missense 16:57204780-57204780 + HCC2998 COSM1679114 c.1521T>G p.I507M Substitution - Missense 16:57231311-57231311 + C058 COSM5525534 c.255G>A p.R85R Substitution - coding silent 16:57204913-57204913 + 1960034 COSM1644239 c.1467G>A p.M489I Substitution - Missense 16:57231257-57231257 + TCGA-AN-A046-01 COSM3818146 c.525C>T p.L175L Substitution - coding silent 16:57212980-57212980 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.460885 16q13

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.M489*fs*1 c.1465delA 16 57265167 RCCC A G Missense p.I181V c.541A>G 16 57246908 STAD A G Missense p.I522V c.1564A>G 16 57269070 CLL A G Missense p.N280D c.838A>G 16 57250884 BLCA - A IntronicInsertion . c.643+112dupA 16 57247118 ESCA A T Missense p.T353S c.1057A>T 16 57255223 RCCC C A Missense p.P80H c.239C>A 16 57238809 HNSC C A Synonymous p.R405R c.1213C>A 16 57261305 RCCC C G Missense p.L244V c.730C>G 16 57250046 ESCA C G Missense p.P416R c.1247C>G 16 57261339 LUAD C T IntronicSNV . c.769+96C>T 16 57250181 CM C T Missense p.H29Y c.85C>T 16 57238655 CM C T Missense p.L300F c.898C>T 16 57250944 CM C T Missense p.P168S c.502C>T 16 57243085 CM C T Missense p.T161I c.482C>T 16 57243065 PRAD C T Synonymous p.I2I c.6C>T 16 57238576 CM C T Synonymous p.L516L c.1546C>T 16 57269052 CM G A 3-UTRSNV . c.1728+688G>A 16 57273572 HC G A Missense p.D381N c.1141G>A 16 57255307 COREAD G A Missense p.D536N c.1606G>A 16 57269112 BLCA G A Missense p.E533K c.1597G>A 16 57269103 BLCA G A Missense p.G207D c.620G>A 16 57246987 UCEC G A Missense p.G34E c.101G>A 16 57238671 HNSC G A Missense p.G393E c.1178G>A 16 57261270 LUSC G A Missense p.R88Q c.263G>A 16 57238833 LUSC G A Missense p.V68I c.202G>A 16 57238772 THCA G C Missense p.C352S c.1055G>C 16 57255221 RCCC G C Missense p.R568T c.1703G>C 16 57272859 LUAD G T Missense p.L275F c.825G>T 16 57250871 LUSC G T Missense p.W377C c.1131G>T 16 57255297 LUAD G T Nonsense p.E258* c.772G>T 16 57250818 BLCA T A Synonymous p.P416P c.1248T>A 16 57261340 OV T C IntronicSNV . c.1-4740T>C 16 57233831 CLL T C Missense p.M489T c.1466T>C 16 57265168 RCCC T C Synonymous p.S573S c.1719T>C 16 57272875 CM T - Frameshift p.Y401*fs*1 c.1203delT 16 57261295 LUAD T G IntronicSNV . c.902-87T>G 16 57254557 HC T G Missense p.I507S c.1520T>G 16 57265222 COREAD T G Synonymous p.S488S c.1464T>G 16 57265166 LUSC T G Synonymous p.V148V c.444T>G 16 57243027 LUSC T - IntronicDeletion . c.351-5delT 16 57241957 STAD T - IntronicDeletion . c.643+42delT 16 57247050 ESCA