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 18 56348424 56348424 + Missense_Mutation SNP T T C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr18:56348424T>C c.232T>C c.(232-234)Tct>Cct p.S78P BLCA 18 56348478 56348478 + Missense_Mutation SNP A A T TCGA-XF-A9T3-01A-11D-A42E-08 TCGA-XF-A9T3-10A-01D-A42H-08 g.chr18:56348478A>T c.286A>T c.(286-288)Atg>Ttg p.M96L BLCA 18 56363632 56363632 + Silent SNP A A C TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr18:56363632A>C c.411A>C c.(409-411)gcA>gcC p.A137A BLCA 18 56376610 56376610 + Splice_Site SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr18:56376610G>A c.650G>A c.(649-651)aGa>aAa p.R217K BLCA 18 56377292 56377292 + Missense_Mutation SNP G G C TCGA-ZF-AA4V-01A-11D-A38G-08 TCGA-ZF-AA4V-10A-01D-A38J-08 g.chr18:56377292G>C c.913G>C c.(913-915)Gaa>Caa p.E305Q BLCA 18 56377297 56377297 + Silent SNP C C T TCGA-DK-AA6W-01A-12D-A391-08 TCGA-DK-AA6W-10A-01D-A394-08 g.chr18:56377297C>T c.918C>T c.(916-918)atC>atT p.I306I BLCA 18 56390314 56390314 + Missense_Mutation SNP G G T TCGA-C4-A0F6-01A-11D-A10S-08 TCGA-C4-A0F6-10A-01D-A10S-08 g.chr18:56390314G>T c.1053G>T c.(1051-1053)atG>atT p.M351I BLCA 18 56390406 56390406 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr18:56390406C>T c.1145C>T c.(1144-1146)tCa>tTa p.S382L BLCA 18 56402448 56402448 + Missense_Mutation SNP A A T TCGA-CF-A1HS-01A-11D-A13W-08 TCGA-CF-A1HS-10A-01D-A13W-08 g.chr18:56402448A>T c.1490A>T c.(1489-1491)gAa>gTa p.E497V BLCA 18 56414989 56414989 + Missense_Mutation SNP A A G TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chr18:56414989A>G c.2390A>G c.(2389-2391)cAt>cGt p.H797R BRCA 18 56377273 56377273 + Missense_Mutation SNP T T A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 g.chr18:56377273T>A c.894T>A c.(892-894)agT>agA p.S298R BRCA 18 56400770 56400770 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr18:56400770G>C c.1364G>C c.(1363-1365)gGa>gCa p.G455A BRCA 18 56412910 56412910 + Missense_Mutation SNP G G A TCGA-A2-A0EY-01A-11W-A050-09 TCGA-A2-A0EY-10A-01W-A055-09 g.chr18:56412910G>A c.1924G>A c.(1924-1926)Gat>Aat p.D642N CESC 18 56401561 56401561 + Missense_Mutation SNP C C G TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr18:56401561C>G c.1423C>G c.(1423-1425)Cca>Gca p.P475A COAD 18 56348532 56348532 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:56348532G>T c.340G>T c.(340-342)Gaa>Taa p.E114* COAD 18 56348560 56348561 + Frame_Shift_Ins INS - - CC TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr18:56348560_56348561insCC c.368_369insCC c.(367-372)agccccfs p.SP123fs COAD 18 56348561 56348561 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:56348561delC c.369delC c.(367-369)agcfs p.S123fs COAD 18 56367782 56367782 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:56367782G>A c.608G>A c.(607-609)tGg>tAg p.W203* COAD 18 56376623 56376623 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:56376623C>T c.663C>T c.(661-663)ggC>ggT p.G221G COAD 18 56390386 56390386 + Missense_Mutation SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr18:56390386G>T c.1125G>T c.(1123-1125)caG>caT p.Q375H COAD 18 56390435 56390435 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:56390435C>T c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C COAD 18 56401562 56401562 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:56401562C>A c.1424C>A c.(1423-1425)cCa>cAa p.P475Q COAD 18 56401597 56401597 + Missense_Mutation SNP G G A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr18:56401597G>A c.1459G>A c.(1459-1461)Gtg>Atg p.V487M COAD 18 56401613 56401613 + Splice_Site SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:56401613C>T c.1475C>T c.(1474-1476)aCg>aTg p.T492M COAD 18 56414733 56414733 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:56414733A>G c.2134A>G c.(2134-2136)Att>Gtt p.I712V COAD 18 56414742 56414742 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:56414742T>C c.2143T>C c.(2143-2145)Tta>Cta p.L715L COAD 18 56415016 56415016 + Missense_Mutation SNP A A G TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr18:56415016A>G c.2417A>G c.(2416-2418)gAg>gGg p.E806G COAD 18 56415016 56415016 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr18:56415016A>G c.2417A>G c.(2416-2418)gAg>gGg p.E806G COADREAD 18 56348532 56348532 + Nonsense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:56348532G>T c.340G>T c.(340-342)Gaa>Taa p.E114* COADREAD 18 56348560 56348561 + Frame_Shift_Ins INS - - CC TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr18:56348560_56348561insCC c.368_369insCC c.(367-372)agccccfs p.SP123fs COADREAD 18 56348561 56348561 + Frame_Shift_Del DEL C C - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr18:56348561delC c.369delC c.(367-369)agcfs p.S123fs COADREAD 18 56363706 56363706 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56363706A>C c.485A>C c.(484-486)aAa>aCa p.K162T COADREAD 18 56367782 56367782 + Nonsense_Mutation SNP G G A TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr18:56367782G>A c.608G>A c.(607-609)tGg>tAg p.W203* COADREAD 18 56376623 56376623 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr18:56376623C>T c.663C>T c.(661-663)ggC>ggT p.G221G COADREAD 18 56390338 56390338 + Silent SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr18:56390338C>A c.1077C>A c.(1075-1077)ctC>ctA p.L359L COADREAD 18 56390386 56390386 + Missense_Mutation SNP G G T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr18:56390386G>T c.1125G>T c.(1123-1125)caG>caT p.Q375H COADREAD 18 56390435 56390435 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr18:56390435C>T c.1174C>T c.(1174-1176)Cgt>Tgt p.R392C COADREAD 18 56401562 56401562 + Missense_Mutation SNP C C A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr18:56401562C>A c.1424C>A c.(1423-1425)cCa>cAa p.P475Q COADREAD 18 56401597 56401597 + Missense_Mutation SNP G G A TCGA-AD-6901-01A-11D-1924-10 TCGA-AD-6901-10A-01D-1924-10 g.chr18:56401597G>A c.1459G>A c.(1459-1461)Gtg>Atg p.V487M COADREAD 18 56401613 56401613 + Splice_Site SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:56401613C>T c.1475C>T c.(1474-1476)aCg>aTg p.T492M COADREAD 18 56414733 56414733 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr18:56414733A>G c.2134A>G c.(2134-2136)Att>Gtt p.I712V COADREAD 18 56414742 56414742 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr18:56414742T>C c.2143T>C c.(2143-2145)Tta>Cta p.L715L COADREAD 18 56415016 56415016 + Missense_Mutation SNP A A G TCGA-AA-3662-01A-01D-1719-10 TCGA-AA-3662-11A-01D-1719-10 g.chr18:56415016A>G c.2417A>G c.(2416-2418)gAg>gGg p.E806G COADREAD 18 56415016 56415016 + Missense_Mutation SNP A A G TCGA-G4-6625-01A-21D-1771-10 TCGA-G4-6625-11A-01D-1771-10 g.chr18:56415016A>G c.2417A>G c.(2416-2418)gAg>gGg p.E806G ESCA 18 56411668 56411668 + Missense_Mutation SNP A A G TCGA-LN-A7HV-01A-21D-A351-09 TCGA-LN-A7HV-10A-01D-A351-09 g.chr18:56411668A>G c.1852A>G c.(1852-1854)Ata>Gta p.I618V GBM 18 56378165 56378165 + Missense_Mutation SNP A A G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 g.chr18:56378165A>G c.938A>G c.(937-939)gAg>gGg p.E313G GBM 18 56400716 56400716 + Frame_Shift_Del DEL A A - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr18:56400716delA c.1310delA c.(1309-1311)gaafs p.E437fs GBMLGG 18 56363642 56363642 + Missense_Mutation SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 g.chr18:56363642G>A c.421G>A c.(421-423)Gga>Aga p.G141R GBMLGG 18 56367772 56367772 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr18:56367772delT c.598delT c.(598-600)ttcfs p.F200fs GBMLGG 18 56376782 56376782 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:56376782A>G c.822A>G c.(820-822)ctA>ctG p.L274L GBMLGG 18 56378165 56378165 + Missense_Mutation SNP A A G TCGA-06-0141-01A-01D-1490-08 TCGA-06-0141-10A-01D-1490-08 g.chr18:56378165A>G c.938A>G c.(937-939)gAg>gGg p.E313G GBMLGG 18 56400716 56400716 + Frame_Shift_Del DEL A A - TCGA-02-2470-01A-01D-1494-08 TCGA-02-2470-10A-01D-1494-08 g.chr18:56400716delA c.1310delA c.(1309-1311)gaafs p.E437fs HNSC 18 56400691 56400691 + Missense_Mutation SNP G G A TCGA-CQ-6219-01A-11D-1912-08 TCGA-CQ-6219-10A-01D-1912-08 g.chr18:56400691G>A c.1285G>A c.(1285-1287)Gat>Aat p.D429N HNSC 18 56402442 56402442 + Missense_Mutation SNP G G C TCGA-CR-7386-01A-11D-2012-08 TCGA-CR-7386-10A-01D-2013-08 g.chr18:56402442G>C c.1484G>C c.(1483-1485)gGa>gCa p.G495A HNSC 18 56411652 56411652 + Missense_Mutation SNP G G C TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr18:56411652G>C c.1836G>C c.(1834-1836)atG>atC p.M612I KICH 18 56414969 56414969 + Silent SNP C C T TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr18:56414969C>T c.2370C>T c.(2368-2370)ttC>ttT p.F790F KIPAN 18 56400802 56400802 + Missense_Mutation SNP A A G TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr18:56400802A>G c.1396A>G c.(1396-1398)Aaa>Gaa p.K466E KIPAN 18 56414818 56414818 + Missense_Mutation SNP C C T TCGA-BP-4169-01A-02D-1366-10 TCGA-BP-4169-11A-01D-1366-10 g.chr18:56414818C>T c.2219C>T c.(2218-2220)tCt>tTt p.S740F KIPAN 18 56414969 56414969 + Silent SNP C C T TCGA-KN-8432-01A-11D-2310-10 TCGA-KN-8432-11A-01D-2311-10 g.chr18:56414969C>T c.2370C>T c.(2368-2370)ttC>ttT p.F790F KIRC 18 56414818 56414818 + Missense_Mutation SNP C C T TCGA-BP-4169-01A-02D-1366-10 TCGA-BP-4169-11A-01D-1366-10 g.chr18:56414818C>T c.2219C>T c.(2218-2220)tCt>tTt p.S740F KIRP 18 56400802 56400802 + Missense_Mutation SNP A A G TCGA-MH-A561-01A-11D-A26P-10 TCGA-MH-A561-10A-01D-A26P-10 g.chr18:56400802A>G c.1396A>G c.(1396-1398)Aaa>Gaa p.K466E LGG 18 56363642 56363642 + Missense_Mutation SNP G G A TCGA-P5-A735-01A-11D-A32B-08 TCGA-P5-A735-10A-01D-A329-08 g.chr18:56363642G>A c.421G>A c.(421-423)Gga>Aga p.G141R LGG 18 56367772 56367772 + Frame_Shift_Del DEL T T - TCGA-TQ-A7RM-01A-11D-A33T-08 TCGA-TQ-A7RM-10A-01D-A33W-08 g.chr18:56367772delT c.598delT c.(598-600)ttcfs p.F200fs LGG 18 56376782 56376782 + Silent SNP A A G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr18:56376782A>G c.822A>G c.(820-822)ctA>ctG p.L274L LIHC 18 56348515 56348515 + Missense_Mutation SNP A A G TCGA-DD-AAE7-01A-11D-A40R-10 TCGA-DD-AAE7-10A-01D-A40U-10 g.chr18:56348515A>G c.323A>G c.(322-324)gAt>gGt p.D108G LIHC 18 56401614 56401614 + Splice_Site SNP G G A TCGA-BC-A217-01A-11D-A152-10 TCGA-BC-A217-10A-01D-A152-10 g.chr18:56401614G>A c.e12+1 LIHC 18 56415027 56415027 + Missense_Mutation SNP G G A TCGA-G3-A25S-01A-11D-A16V-10 TCGA-G3-A25S-10A-01D-A16V-10 g.chr18:56415027G>A c.2428G>A c.(2428-2430)Gaa>Aaa p.E810K LUAD 18 56348550 56348550 + Nonsense_Mutation SNP C C T TCGA-64-5779-01A-01D-1625-08 TCGA-64-5779-10A-01D-1625-08 g.chr18:56348550C>T c.358C>T c.(358-360)Cag>Tag p.Q120* LUAD 18 56363625 56363625 + Nonsense_Mutation SNP C C G TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chr18:56363625C>G c.404C>G c.(403-405)tCa>tGa p.S135* LUAD 18 56363658 56363658 + Missense_Mutation SNP T T C TCGA-73-4666-01A-01D-1265-08 TCGA-73-4666-11A-01D-1265-08 g.chr18:56363658T>C c.437T>C c.(436-438)cTg>cCg p.L146P LUAD 18 56377243 56377243 + Nonsense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr18:56377243C>G c.864C>G c.(862-864)taC>taG p.Y288* LUAD 18 56390327 56390327 + Missense_Mutation SNP C C T TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr18:56390327C>T c.1066C>T c.(1066-1068)Cac>Tac p.H356Y LUAD 18 56390406 56390406 + Missense_Mutation SNP C C T TCGA-17-Z033-01A-01W-0746-08 TCGA-17-Z033-11A-01W-0746-08 g.chr18:56390406C>T c.1145C>T c.(1144-1146)tCa>tTa p.S382L LUAD 18 56409154 56409154 + Missense_Mutation SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr18:56409154T>C c.1661T>C c.(1660-1662)tTa>tCa p.L554S LUAD 18 56409163 56409163 + Missense_Mutation SNP A A T TCGA-17-Z016-01A-01W-0746-08 TCGA-17-Z016-11A-01W-0746-08 g.chr18:56409163A>T c.1670A>T c.(1669-1671)aAg>aTg p.K557M LUAD 18 56409180 56409180 + Missense_Mutation SNP C C G TCGA-86-A456-01A-11D-A24D-08 TCGA-86-A456-10A-01D-A24F-08 g.chr18:56409180C>G c.1687C>G c.(1687-1689)Cca>Gca p.P563A LUAD 18 56409233 56409233 + Nonsense_Mutation SNP G G A TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr18:56409233G>A c.1740G>A c.(1738-1740)tgG>tgA p.W580* LUAD 18 56412910 56412910 + Missense_Mutation SNP G G A TCGA-55-7576-01A-11D-2063-08 TCGA-55-7576-10A-01D-2063-08 g.chr18:56412910G>A c.1924G>A c.(1924-1926)Gat>Aat p.D642N LUAD 18 56414745 56414745 + Missense_Mutation SNP G G C TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr18:56414745G>C c.2146G>C c.(2146-2148)Gac>Cac p.D716H LUAD 18 56414758 56414758 + Missense_Mutation SNP G G T TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr18:56414758G>T c.2159G>T c.(2158-2160)gGt>gTt p.G720V LUAD 18 56414822 56414822 + Silent SNP A A T TCGA-55-6969-01A-11D-1945-08 TCGA-55-6969-11A-01D-1945-08 g.chr18:56414822A>T c.2223A>T c.(2221-2223)gcA>gcT p.A741A LUSC 18 56348415 56348415 + Nonsense_Mutation SNP G G T TCGA-34-5232-01A-21D-1817-08 TCGA-34-5232-10A-01D-1817-08 g.chr18:56348415G>T c.223G>T c.(223-225)Gag>Tag p.E75* OV 18 56376637 56376637 + Missense_Mutation SNP A A G TCGA-61-1910-01A-01W-0639-09 TCGA-61-1910-11A-01W-0640-09 g.chr18:56376637A>G c.677A>G c.(676-678)aAg>aGg p.K226R OV 18 56390338 56390338 + Silent SNP C C T TCGA-25-1326-01A-01W-0492-08 TCGA-25-1326-10A-01W-0492-08 g.chr18:56390338C>T c.1077C>T c.(1075-1077)ctC>ctT p.L359L OV 18 56414870 56414870 + Silent SNP C C T TCGA-24-0979-01A-01W-0486-08 TCGA-24-0979-10B-01W-0486-08 g.chr18:56414870C>T c.2271C>T c.(2269-2271)ttC>ttT p.F757F PAAD 18 56348560 56348560 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr18:56348560G>A c.368G>A c.(367-369)aGc>aAc p.S123N PAAD 18 56401610 56401610 + Missense_Mutation SNP C C T TCGA-2L-AAQL-01A-11D-A38G-08 TCGA-2L-AAQL-11A-11D-A38J-08 g.chr18:56401610C>T c.1472C>T c.(1471-1473)gCc>gTc p.A491V PAAD 18 56409220 56409220 + Missense_Mutation SNP G G A TCGA-YH-A8SY-01A-11D-A377-08 TCGA-YH-A8SY-10A-01D-A37A-08 g.chr18:56409220G>A c.1727G>A c.(1726-1728)cGg>cAg p.R576Q PCPG 18 56411728 56411728 + Splice_Site SNP G G A TCGA-WB-A81P-01A-11D-A35I-08 TCGA-WB-A81P-10A-01D-A35G-08 g.chr18:56411728G>A c.e15+1 READ 18 56363706 56363706 + Missense_Mutation SNP A A C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr18:56363706A>C c.485A>C c.(484-486)aAa>aCa p.K162T READ 18 56390338 56390338 + Silent SNP C C A TCGA-EI-6506-01A-11D-1733-10 TCGA-EI-6506-10A-01D-1733-10 g.chr18:56390338C>A c.1077C>A c.(1075-1077)ctC>ctA p.L359L SKCM 18 56348519 56348519 + Silent SNP C C T TCGA-D9-A6EA-06A-11D-A30X-08 TCGA-D9-A6EA-10A-01D-A30X-08 g.chr18:56348519C>T c.327C>T c.(325-327)ttC>ttT p.F109F SKCM 18 56363619 56363619 + Missense_Mutation SNP C C T TCGA-D3-A51J-06A-11D-A25O-08 TCGA-D3-A51J-10A-01D-A25O-08 g.chr18:56363619C>T c.398C>T c.(397-399)cCa>cTa p.P133L SKCM 18 56363682 56363682 + Missense_Mutation SNP C C T TCGA-EE-A180-06A-11D-A21A-08 TCGA-EE-A180-10B-01D-A21A-08 g.chr18:56363682C>T c.461C>T c.(460-462)cCt>cTt p.P154L SKCM 18 56367809 56367809 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr18:56367809C>T c.635C>T c.(634-636)cCa>cTa p.P212L SKCM 18 56376661 56376661 + Missense_Mutation SNP C C T TCGA-D9-A149-06A-11D-A196-08 TCGA-D9-A149-10A-01D-A198-08 g.chr18:56376661C>T c.701C>T c.(700-702)aCt>aTt p.T234I SKCM 18 56390306 56390306 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr18:56390306G>A c.1045G>A c.(1045-1047)Gga>Aga p.G349R SKCM 18 56390422 56390422 + Silent SNP T T G TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr18:56390422T>G c.1161T>G c.(1159-1161)acT>acG p.T387T SKCM 18 56390461 56390461 + Silent SNP C C T TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr18:56390461C>T c.1200C>T c.(1198-1200)ctC>ctT p.L400L SKCM 18 56390483 56390483 + Splice_Site SNP G G A TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr18:56390483G>A c.1222G>A c.(1222-1224)Ggg>Agg p.G408R SKCM 18 56390484 56390484 + Splice_Site SNP G G T TCGA-GF-A3OT-06A-23D-A23B-08 TCGA-GF-A3OT-10A-01D-A23B-08 g.chr18:56390484G>T c.e10+1 SKCM 18 56400684 56400684 + Silent SNP C C T TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr18:56400684C>T c.1278C>T c.(1276-1278)gtC>gtT p.V426V SKCM 18 56401549 56401549 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr18:56401549G>A c.1411G>A c.(1411-1413)Gat>Aat p.D471N SKCM 18 56402458 56402458 + Missense_Mutation SNP A A T TCGA-EE-A183-06A-11D-A196-08 TCGA-EE-A183-10A-01D-A198-08 g.chr18:56402458A>T c.1500A>T c.(1498-1500)gaA>gaT p.E500D

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 18 56348424 56348424 single base substitution T C 5_prime_UTR_variant BLCA-US 18 56348424 56348424 single base substitution T C missense_variant S78P 232T>C BLCA-US 18 56390314 56390314 single base substitution G T missense_variant M340I 1020G>T BLCA-US 18 56390314 56390314 single base substitution G T missense_variant M351I 1053G>T BLCA-US 18 56390406 56390406 single base substitution C T missense_variant S371L 1112C>T BLCA-US 18 56390406 56390406 single base substitution C T missense_variant S382L 1145C>T BLCA-US 18 56402448 56402448 single base substitution A T exon_variant BLCA-US 18 56402448 56402448 single base substitution A T missense_variant E486V 1457A>T BLCA-US 18 56402448 56402448 single base substitution A T missense_variant E497V 1490A>T BLCA-US 18 56414989 56414989 single base substitution A G downstream_gene_variant BLCA-US 18 56414989 56414989 single base substitution A G exon_variant BLCA-US 18 56414989 56414989 single base substitution A G missense_variant H786R 2357A>G BLCA-US 18 56414989 56414989 single base substitution A G missense_variant H797R 2390A>G BRCA-EU 18 56334937 56334937 single base substitution C T upstream_gene_variant BRCA-EU 18 56336218 56336223 deletion of <=200bp TGCACT - upstream_gene_variant BRCA-EU 18 56336993 56336993 single base substitution G T upstream_gene_variant BRCA-EU 18 56338125 56338125 single base substitution G C upstream_gene_variant BRCA-EU 18 56339254 56339254 single base substitution C G intron_variant BRCA-EU 18 56339254 56339254 single base substitution C G upstream_gene_variant BRCA-EU 18 56340251 56340251 single base substitution C A intron_variant BRCA-EU 18 56340401 56340401 single base substitution G A intron_variant BRCA-EU 18 56341433 56341433 single base substitution C T intron_variant BRCA-EU 18 56344645 56344668 deletion of <=200bp TCATAAAAATTATATTTAGCATAC - intron_variant BRCA-EU 18 56346405 56346405 single base substitution T A intron_variant BRCA-EU 18 56346406 56346406 single base substitution C G intron_variant BRCA-EU 18 56349722 56349746 deletion of <=200bp TCCACATAGCGCAAGACGTCTGCTG - intron_variant BRCA-EU 18 56349939 56349939 single base substitution C T intron_variant BRCA-EU 18 56350139 56350139 single base substitution G C intron_variant BRCA-EU 18 56353026 56353026 single base substitution C T intron_variant BRCA-EU 18 56353857 56353857 single base substitution G C intron_variant BRCA-EU 18 56353911 56353911 single base substitution T A intron_variant BRCA-EU 18 56355496 56355496 single base substitution C T intron_variant BRCA-EU 18 56358259 56358259 single base substitution G A intron_variant BRCA-EU 18 56359270 56359270 single base substitution C T intron_variant BRCA-EU 18 56360219 56360219 single base substitution G C intron_variant BRCA-EU 18 56363305 56363305 deletion of <=200bp A - intron_variant BRCA-EU 18 56364315 56364315 single base substitution C T intron_variant BRCA-EU 18 56364808 56364808 single base substitution C G intron_variant BRCA-EU 18 56365868 56365868 single base substitution G A intron_variant BRCA-EU 18 56366663 56366664 deletion of <=200bp AG - intron_variant BRCA-EU 18 56366767 56366767 single base substitution G C intron_variant BRCA-EU 18 56366794 56366794 deletion of <=200bp T - intron_variant BRCA-EU 18 56367002 56367002 single base substitution G A intron_variant BRCA-EU 18 56367832 56367832 single base substitution C G downstream_gene_variant BRCA-EU 18 56367832 56367832 single base substitution C G intron_variant BRCA-EU 18 56369370 56369370 single base substitution T C downstream_gene_variant BRCA-EU 18 56369370 56369370 single base substitution T C intron_variant BRCA-EU 18 56370167 56370167 single base substitution T C downstream_gene_variant BRCA-EU 18 56370167 56370167 single base substitution T C intron_variant BRCA-EU 18 56370589 56370589 deletion of <=200bp A - downstream_gene_variant BRCA-EU 18 56370589 56370589 deletion of <=200bp A - intron_variant BRCA-EU 18 56370931 56370931 single base substitution C T downstream_gene_variant BRCA-EU 18 56370931 56370931 single base substitution C T intron_variant BRCA-EU 18 56371909 56371909 single base substitution C T downstream_gene_variant BRCA-EU 18 56371909 56371909 single base substitution C T intron_variant BRCA-EU 18 56373973 56373973 single base substitution T G intron_variant BRCA-EU 18 56374063 56374063 single base substitution C T intron_variant BRCA-EU 18 56374106 56374106 single base substitution C G intron_variant BRCA-EU 18 56374167 56374167 single base substitution C T intron_variant BRCA-EU 18 56374227 56374227 single base substitution G A intron_variant BRCA-EU 18 56374552 56374552 single base substitution C G intron_variant BRCA-EU 18 56375240 56375240 single base substitution C T intron_variant BRCA-EU 18 56375490 56375490 single base substitution C T intron_variant BRCA-EU 18 56378082 56378082 single base substitution A T intron_variant BRCA-EU 18 56378325 56378325 single base substitution A G intron_variant BRCA-EU 18 56379726 56379726 single base substitution A T intron_variant BRCA-EU 18 56381646 56381646 single base substitution G A intron_variant BRCA-EU 18 56382976 56382976 single base substitution T G intron_variant BRCA-EU 18 56389395 56389395 single base substitution A G intron_variant BRCA-EU 18 56389595 56389595 single base substitution G C intron_variant BRCA-EU 18 56390266 56390266 deletion of <=200bp T - intron_variant BRCA-EU 18 56390966 56390966 single base substitution T C intron_variant BRCA-EU 18 56391466 56391466 deletion of <=200bp T - intron_variant BRCA-EU 18 56392610 56392610 single base substitution G A intron_variant BRCA-EU 18 56396115 56396115 single base substitution C G intron_variant BRCA-EU 18 56396115 56396115 single base substitution C G upstream_gene_variant BRCA-EU 18 56396958 56396958 single base substitution C G intron_variant BRCA-EU 18 56396958 56396958 single base substitution C G upstream_gene_variant BRCA-EU 18 56397105 56397105 single base substitution G C intron_variant BRCA-EU 18 56397105 56397105 single base substitution G C upstream_gene_variant BRCA-EU 18 56398485 56398485 single base substitution G A intron_variant BRCA-EU 18 56398485 56398485 single base substitution G A upstream_gene_variant BRCA-EU 18 56398612 56398612 single base substitution C T intron_variant BRCA-EU 18 56398612 56398612 single base substitution C T upstream_gene_variant BRCA-EU 18 56399002 56399002 single base substitution C T intron_variant BRCA-EU 18 56399002 56399002 single base substitution C T upstream_gene_variant BRCA-EU 18 56402459 56402459 single base substitution A C exon_variant BRCA-EU 18 56402459 56402459 single base substitution A C missense_variant I490L 1468A>C BRCA-EU 18 56402459 56402459 single base substitution A C missense_variant I501L 1501A>C BRCA-EU 18 56403340 56403340 single base substitution C T intron_variant BRCA-EU 18 56403966 56403966 single base substitution C G intron_variant BRCA-EU 18 56403966 56403966 single base substitution C G upstream_gene_variant BRCA-EU 18 56404022 56404022 single base substitution C T intron_variant BRCA-EU 18 56404022 56404022 single base substitution C T upstream_gene_variant BRCA-EU 18 56404285 56404285 single base substitution T C intron_variant BRCA-EU 18 56404285 56404285 single base substitution T C upstream_gene_variant BRCA-EU 18 56404535 56404535 single base substitution G A intron_variant BRCA-EU 18 56404535 56404535 single base substitution G A upstream_gene_variant BRCA-EU 18 56405300 56405300 single base substitution A G intron_variant BRCA-EU 18 56405300 56405300 single base substitution A G upstream_gene_variant BRCA-EU 18 56406783 56406783 single base substitution G C intron_variant BRCA-EU 18 56406783 56406783 single base substitution G C upstream_gene_variant BRCA-EU 18 56408231 56408231 single base substitution C G intron_variant BRCA-EU 18 56408231 56408231 single base substitution C G upstream_gene_variant BRCA-EU 18 56409772 56409772 single base substitution C G intron_variant BRCA-EU 18 56410182 56410182 single base substitution T G intron_variant BRCA-EU 18 56410984 56410984 single base substitution C T intron_variant BRCA-EU 18 56414634 56414634 single base substitution C T downstream_gene_variant BRCA-EU 18 56414634 56414634 single base substitution C T intron_variant BRCA-EU 18 56418209 56418209 insertion of <=200bp - A downstream_gene_variant BRCA-EU 18 56421148 56421148 deletion of <=200bp T - downstream_gene_variant BRCA-FR 18 56340228 56340228 single base substitution A G intron_variant BRCA-FR 18 56350139 56350139 single base substitution G C intron_variant BRCA-FR 18 56353911 56353911 single base substitution T A intron_variant BRCA-FR 18 56359270 56359270 single base substitution C T intron_variant BRCA-FR 18 56375240 56375240 single base substitution C T intron_variant BRCA-FR 18 56396115 56396115 single base substitution C G intron_variant BRCA-FR 18 56396115 56396115 single base substitution C G upstream_gene_variant BRCA-FR 18 56396958 56396958 single base substitution C G intron_variant BRCA-FR 18 56396958 56396958 single base substitution C G upstream_gene_variant BRCA-FR 18 56408939 56408939 single base substitution G C exon_variant BRCA-FR 18 56408939 56408939 single base substitution G C intron_variant BRCA-FR 18 56409519 56409519 single base substitution C T intron_variant BRCA-UK 18 56346405 56346405 single base substitution T A intron_variant BRCA-US 18 56377273 56377273 single base substitution T A missense_variant S298R 894T>A BRCA-US 18 56400770 56400770 single base substitution G C exon_variant BRCA-US 18 56400770 56400770 single base substitution G C missense_variant G444A 1331G>C BRCA-US 18 56400770 56400770 single base substitution G C missense_variant G455A 1364G>C BRCA-US 18 56412910 56412910 single base substitution G A exon_variant BRCA-US 18 56412910 56412910 single base substitution G A missense_variant D631N 1891G>A BRCA-US 18 56412910 56412910 single base substitution G A missense_variant D642N 1924G>A BTCA-JP 18 56348439 56348439 single base substitution G A 5_prime_UTR_variant BTCA-JP 18 56348439 56348439 single base substitution G A missense_variant E83K 247G>A BTCA-JP 18 56376510 56376510 single base substitution T A intron_variant BTCA-JP 18 56390266 56390266 deletion of <=200bp T - intron_variant BTCA-JP 18 56400528 56400528 single base substitution A G intron_variant BTCA-JP 18 56400528 56400528 single base substitution A G upstream_gene_variant BTCA-JP 18 56412883 56412883 insertion of <=200bp - T intron_variant CESC-US 18 56401561 56401561 single base substitution C G exon_variant CESC-US 18 56401561 56401561 single base substitution C G missense_variant P464A 1390C>G CESC-US 18 56401561 56401561 single base substitution C G missense_variant P475A 1423C>G CLLE-ES 18 56334579 56334579 single base substitution C T upstream_gene_variant CLLE-ES 18 56378343 56378343 single base substitution T C intron_variant COAD-US 18 56348560 56348560 insertion of <=200bp - CC frameshift_variant S123T? COAD-US 18 56348560 56348560 insertion of <=200bp - CC frameshift_variant S28T? COAD-US 18 56348561 56348561 deletion of <=200bp C - frameshift_variant S123 COAD-US 18 56348561 56348561 deletion of <=200bp C - frameshift_variant S28 COAD-US 18 56378163 56378163 single base substitution T C intron_variant COAD-US 18 56378163 56378163 single base substitution T C synonymous_variant D312D 936T>C COAD-US 18 56401597 56401597 single base substitution G A exon_variant COAD-US 18 56401597 56401597 single base substitution G A missense_variant V476M 1426G>A COAD-US 18 56401597 56401597 single base substitution G A missense_variant V487M 1459G>A COAD-US 18 56409219 56409219 single base substitution C T exon_variant COAD-US 18 56409219 56409219 single base substitution C T missense_variant R565W 1693C>T COAD-US 18 56409219 56409219 single base substitution C T missense_variant R576W 1726C>T COCA-CN 18 56348715 56348715 single base substitution A T intron_variant COCA-CN 18 56411823 56411823 single base substitution A G intron_variant COCA-CN 18 56413121 56413121 single base substitution G C downstream_gene_variant COCA-CN 18 56413121 56413121 single base substitution G C intron_variant EOPC-DE 18 56337296 56337296 single base substitution T G upstream_gene_variant EOPC-DE 18 56359306 56359306 single base substitution T G intron_variant EOPC-DE 18 56366471 56366471 single base substitution A T intron_variant ESAD-UK 18 56337399 56337399 single base substitution A T upstream_gene_variant ESAD-UK 18 56339884 56339884 single base substitution C T intron_variant ESAD-UK 18 56342623 56342623 deletion of <=200bp A - intron_variant ESAD-UK 18 56343060 56343060 single base substitution G A intron_variant ESAD-UK 18 56344256 56344256 single base substitution C T intron_variant ESAD-UK 18 56346971 56346971 single base substitution G T intron_variant ESAD-UK 18 56351349 56351349 single base substitution G T intron_variant ESAD-UK 18 56351836 56351836 single base substitution G A intron_variant ESAD-UK 18 56353827 56353827 single base substitution C A intron_variant ESAD-UK 18 56353978 56353978 single base substitution A G intron_variant ESAD-UK 18 56358272 56358272 single base substitution T A intron_variant ESAD-UK 18 56358273 56358273 single base substitution G T intron_variant ESAD-UK 18 56359794 56359794 single base substitution C A intron_variant ESAD-UK 18 56361561 56361561 deletion of <=200bp T - intron_variant ESAD-UK 18 56367125 56367125 single base substitution T C intron_variant ESAD-UK 18 56369932 56369932 deletion of <=200bp A - downstream_gene_variant ESAD-UK 18 56369932 56369932 deletion of <=200bp A - intron_variant ESAD-UK 18 56372053 56372053 single base substitution T C downstream_gene_variant ESAD-UK 18 56372053 56372053 single base substitution T C intron_variant ESAD-UK 18 56373991 56373991 single base substitution G T intron_variant ESAD-UK 18 56374158 56374158 single base substitution C T intron_variant ESAD-UK 18 56379326 56379326 single base substitution A G intron_variant ESAD-UK 18 56379976 56379976 single base substitution T A intron_variant ESAD-UK 18 56383431 56383431 single base substitution C T intron_variant ESAD-UK 18 56385273 56385273 single base substitution T C intron_variant ESAD-UK 18 56387393 56387393 single base substitution A C intron_variant ESAD-UK 18 56387978 56387978 single base substitution A T intron_variant ESAD-UK 18 56389284 56389284 single base substitution G A intron_variant ESAD-UK 18 56392794 56392794 single base substitution G A intron_variant ESAD-UK 18 56396460 56396460 single base substitution G A intron_variant ESAD-UK 18 56396460 56396460 single base substitution G A upstream_gene_variant ESAD-UK 18 56396948 56396948 single base substitution G T intron_variant ESAD-UK 18 56396948 56396948 single base substitution G T upstream_gene_variant ESAD-UK 18 56401686 56401686 single base substitution C T exon_variant ESAD-UK 18 56401686 56401686 single base substitution C T intron_variant ESAD-UK 18 56401826 56401826 single base substitution G T intron_variant ESAD-UK 18 56403939 56403939 single base substitution C T intron_variant ESAD-UK 18 56403939 56403939 single base substitution C T upstream_gene_variant ESAD-UK 18 56405329 56405329 single base substitution T G intron_variant ESAD-UK 18 56405329 56405329 single base substitution T G upstream_gene_variant ESAD-UK 18 56406580 56406580 single base substitution A G intron_variant ESAD-UK 18 56406580 56406580 single base substitution A G upstream_gene_variant ESAD-UK 18 56407277 56407277 single base substitution T G intron_variant ESAD-UK 18 56407277 56407277 single base substitution T G upstream_gene_variant ESAD-UK 18 56422103 56422103 single base substitution G A downstream_gene_variant ESAD-UK 18 56422162 56422162 single base substitution A G downstream_gene_variant ESCA-CN 18 56401587 56401587 single base substitution C T exon_variant ESCA-CN 18 56401587 56401587 single base substitution C T synonymous_variant T472T 1416C>T ESCA-CN 18 56401587 56401587 single base substitution C T synonymous_variant T483T 1449C>T ESCA-CN 18 56402399 56402399 single base substitution C T intron_variant GBM-US 18 56378165 56378165 single base substitution A G intron_variant GBM-US 18 56378165 56378165 single base substitution A G missense_variant E313G 938A>G GBM-US 18 56400716 56400716 deletion of <=200bp A - frameshift_variant E426 GBM-US 18 56400716 56400716 deletion of <=200bp A - frameshift_variant E437 GBM-US 18 56400716 56400716 deletion of <=200bp A - upstream_gene_variant KIRC-US 18 56414818 56414818 single base substitution C T downstream_gene_variant KIRC-US 18 56414818 56414818 single base substitution C T exon_variant KIRC-US 18 56414818 56414818 single base substitution C T missense_variant S729F 2186C>T KIRC-US 18 56414818 56414818 single base substitution C T missense_variant S740F 2219C>T KIRC-US 18 56414893 56414893 single base substitution C G downstream_gene_variant KIRC-US 18 56414893 56414893 single base substitution C G exon_variant KIRC-US 18 56414893 56414893 single base substitution C G missense_variant P754R 2261C>G KIRC-US 18 56414893 56414893 single base substitution C G missense_variant P765R 2294C>G KIRP-US 18 56400802 56400802 single base substitution A G exon_variant KIRP-US 18 56400802 56400802 single base substitution A G missense_variant K455E 1363A>G KIRP-US 18 56400802 56400802 single base substitution A G missense_variant K466E 1396A>G LAML-KR 18 56383323 56383323 single base substitution T C intron_variant LICA-CN 18 56411664 56411664 single base substitution A T exon_variant LICA-CN 18 56411664 56411664 single base substitution A T synonymous_variant T605T 1815A>T LICA-CN 18 56411664 56411664 single base substitution A T synonymous_variant T616T 1848A>T LICA-FR 18 56349503 56349503 single base substitution T A intron_variant LICA-FR 18 56356250 56356250 single base substitution G A intron_variant LICA-FR 18 56359306 56359306 single base substitution T G intron_variant LIHC-US 18 56401614 56401614 single base substitution G A exon_variant LIHC-US 18 56401614 56401614 single base substitution G A splice_donor_variant LIHC-US 18 56414872 56414872 single base substitution A G downstream_gene_variant LIHC-US 18 56414872 56414872 single base substitution A G exon_variant LIHC-US 18 56414872 56414872 single base substitution A G missense_variant H747R 2240A>G LIHC-US 18 56414872 56414872 single base substitution A G missense_variant H758R 2273A>G LIHC-US 18 56415027 56415027 single base substitution G A downstream_gene_variant LIHC-US 18 56415027 56415027 single base substitution G A exon_variant LIHC-US 18 56415027 56415027 single base substitution G A missense_variant E799K 2395G>A LIHC-US 18 56415027 56415027 single base substitution G A missense_variant E810K 2428G>A LINC-JP 18 56345451 56345451 single base substitution G C intron_variant LINC-JP 18 56375749 56375749 single base substitution C A intron_variant LINC-JP 18 56375961 56375961 single base substitution A G intron_variant LINC-JP 18 56376246 56376246 single base substitution A T intron_variant LINC-JP 18 56409169 56409169 single base substitution C T exon_variant LINC-JP 18 56409169 56409169 single base substitution C T missense_variant A548V 1643C>T LINC-JP 18 56409169 56409169 single base substitution C T missense_variant A559V 1676C>T LINC-JP 18 56413631 56413631 deletion of <=200bp T - downstream_gene_variant LINC-JP 18 56413631 56413631 deletion of <=200bp T - intron_variant LINC-JP 18 56414754 56414754 single base substitution C T downstream_gene_variant LINC-JP 18 56414754 56414754 single base substitution C T exon_variant LINC-JP 18 56414754 56414754 single base substitution C T stop_gained R708* 2122C>T LINC-JP 18 56414754 56414754 single base substitution C T stop_gained R719* 2155C>T LINC-JP 18 56414814 56414814 single base substitution A G downstream_gene_variant LINC-JP 18 56414814 56414814 single base substitution A G exon_variant LINC-JP 18 56414814 56414814 single base substitution A G missense_variant S728G 2182A>G LINC-JP 18 56414814 56414814 single base substitution A G missense_variant S739G 2215A>G LIRI-JP 18 56339463 56339463 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 18 56339463 56339463 single base substitution G T intron_variant LIRI-JP 18 56340549 56340549 single base substitution C G intron_variant LIRI-JP 18 56340593 56340593 single base substitution C G intron_variant LIRI-JP 18 56340639 56340639 single base substitution A T intron_variant LIRI-JP 18 56341790 56341790 single base substitution A G intron_variant LIRI-JP 18 56342638 56342638 single base substitution A G intron_variant LIRI-JP 18 56343305 56343305 single base substitution G C intron_variant LIRI-JP 18 56343306 56343306 single base substitution G T intron_variant LIRI-JP 18 56344084 56344084 single base substitution T C intron_variant LIRI-JP 18 56347111 56347111 single base substitution C G intron_variant LIRI-JP 18 56351062 56351062 single base substitution G A intron_variant LIRI-JP 18 56352522 56352522 single base substitution T C intron_variant LIRI-JP 18 56353538 56353538 single base substitution C T intron_variant LIRI-JP 18 56354679 56354679 single base substitution G T intron_variant LIRI-JP 18 56356241 56356241 single base substitution G T intron_variant LIRI-JP 18 56356544 56356544 single base substitution A T intron_variant LIRI-JP 18 56356749 56356749 single base substitution A G intron_variant LIRI-JP 18 56361180 56361180 single base substitution A G intron_variant LIRI-JP 18 56361816 56361816 single base substitution A T intron_variant LIRI-JP 18 56362272 56362272 single base substitution A G intron_variant LIRI-JP 18 56364604 56364604 single base substitution G T intron_variant LIRI-JP 18 56364819 56364819 single base substitution A G intron_variant LIRI-JP 18 56365433 56365433 single base substitution G T intron_variant LIRI-JP 18 56365539 56365539 single base substitution C T intron_variant LIRI-JP 18 56366551 56366551 single base substitution A G intron_variant LIRI-JP 18 56366579 56366579 single base substitution A G intron_variant LIRI-JP 18 56366977 56366977 single base substitution A G intron_variant LIRI-JP 18 56367219 56367219 single base substitution A G intron_variant LIRI-JP 18 56372465 56372465 single base substitution A G downstream_gene_variant LIRI-JP 18 56372465 56372465 single base substitution A G intron_variant LIRI-JP 18 56374183 56374183 single base substitution A G intron_variant LIRI-JP 18 56374276 56374276 single base substitution T G intron_variant LIRI-JP 18 56375077 56375077 single base substitution G A intron_variant LIRI-JP 18 56380288 56380288 single base substitution C T intron_variant LIRI-JP 18 56381220 56381220 single base substitution T C intron_variant LIRI-JP 18 56381884 56381884 single base substitution G T intron_variant LIRI-JP 18 56382099 56382099 single base substitution A G intron_variant LIRI-JP 18 56383022 56383022 single base substitution A G intron_variant LIRI-JP 18 56383221 56383221 single base substitution A G intron_variant LIRI-JP 18 56383256 56383256 single base substitution A G intron_variant LIRI-JP 18 56383497 56383497 single base substitution A T intron_variant LIRI-JP 18 56385014 56385014 single base substitution T G intron_variant LIRI-JP 18 56385746 56385746 single base substitution T C intron_variant LIRI-JP 18 56386637 56386637 single base substitution C T intron_variant LIRI-JP 18 56387100 56387100 single base substitution G T intron_variant LIRI-JP 18 56388717 56388717 single base substitution A G intron_variant LIRI-JP 18 56388987 56388987 single base substitution A G intron_variant LIRI-JP 18 56390669 56390673 deletion of <=200bp CTTTA - intron_variant LIRI-JP 18 56391959 56391959 single base substitution G A intron_variant LIRI-JP 18 56395285 56395285 insertion of <=200bp - T intron_variant LIRI-JP 18 56395881 56395881 single base substitution G A intron_variant LIRI-JP 18 56395881 56395881 single base substitution G A upstream_gene_variant LIRI-JP 18 56396596 56396596 single base substitution C A intron_variant LIRI-JP 18 56396596 56396596 single base substitution C A upstream_gene_variant LIRI-JP 18 56397131 56397131 single base substitution A G intron_variant LIRI-JP 18 56397131 56397131 single base substitution A G upstream_gene_variant LIRI-JP 18 56397901 56397901 single base substitution A G intron_variant LIRI-JP 18 56397901 56397901 single base substitution A G upstream_gene_variant LIRI-JP 18 56399213 56399213 single base substitution T C intron_variant LIRI-JP 18 56399213 56399213 single base substitution T C upstream_gene_variant LIRI-JP 18 56401401 56401401 single base substitution A G exon_variant LIRI-JP 18 56401401 56401401 single base substitution A G intron_variant LIRI-JP 18 56402720 56402720 single base substitution G T intron_variant LIRI-JP 18 56406549 56406549 single base substitution A G intron_variant LIRI-JP 18 56406549 56406549 single base substitution A G upstream_gene_variant LIRI-JP 18 56406824 56406824 single base substitution T C intron_variant LIRI-JP 18 56406824 56406824 single base substitution T C upstream_gene_variant LIRI-JP 18 56410599 56410599 single base substitution A C intron_variant LIRI-JP 18 56411002 56411002 single base substitution C A intron_variant LIRI-JP 18 56413358 56413358 single base substitution T A downstream_gene_variant LIRI-JP 18 56413358 56413358 single base substitution T A intron_variant LIRI-JP 18 56414367 56414367 single base substitution T G downstream_gene_variant LIRI-JP 18 56414367 56414367 single base substitution T G intron_variant LIRI-JP 18 56415667 56415667 single base substitution A G 3_prime_UTR_variant LIRI-JP 18 56415667 56415667 single base substitution A G downstream_gene_variant LIRI-JP 18 56418570 56418570 single base substitution A G downstream_gene_variant LIRI-JP 18 56419092 56419092 single base substitution A G downstream_gene_variant LUSC-KR 18 56341824 56341824 single base substitution G T intron_variant LUSC-KR 18 56346175 56346175 single base substitution C T intron_variant LUSC-KR 18 56348505 56348505 single base substitution G A missense_variant E105K 313G>A LUSC-KR 18 56348505 56348505 single base substitution G A missense_variant E10K 28G>A LUSC-KR 18 56355635 56355635 single base substitution C G intron_variant LUSC-KR 18 56359812 56359812 single base substitution C G intron_variant LUSC-KR 18 56360212 56360212 single base substitution G C intron_variant LUSC-KR 18 56361898 56361898 single base substitution C T intron_variant LUSC-KR 18 56362583 56362583 single base substitution A T intron_variant LUSC-KR 18 56366817 56366817 single base substitution T C intron_variant LUSC-KR 18 56372369 56372369 single base substitution G C downstream_gene_variant LUSC-KR 18 56372369 56372369 single base substitution G C intron_variant LUSC-KR 18 56378114 56378114 single base substitution G C intron_variant LUSC-KR 18 56379031 56379031 single base substitution A T intron_variant LUSC-KR 18 56379414 56379414 single base substitution G T intron_variant LUSC-KR 18 56383323 56383323 single base substitution T C intron_variant LUSC-KR 18 56386211 56386211 single base substitution G T intron_variant LUSC-KR 18 56389725 56389725 single base substitution G A intron_variant LUSC-KR 18 56400826 56400826 single base substitution T C exon_variant LUSC-KR 18 56400826 56400826 single base substitution T C intron_variant LUSC-KR 18 56412784 56412784 single base substitution C T intron_variant LUSC-KR 18 56413099 56413099 single base substitution G T downstream_gene_variant LUSC-KR 18 56413099 56413099 single base substitution G T intron_variant LUSC-KR 18 56415614 56415614 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 56415614 56415614 single base substitution A T downstream_gene_variant LUSC-KR 18 56415625 56415625 single base substitution A T 3_prime_UTR_variant LUSC-KR 18 56415625 56415625 single base substitution A T downstream_gene_variant LUSC-KR 18 56416469 56416469 single base substitution A G 3_prime_UTR_variant LUSC-KR 18 56416469 56416469 single base substitution A G downstream_gene_variant LUSC-KR 18 56419973 56419973 single base substitution G T downstream_gene_variant LUSC-KR 18 56421080 56421080 single base substitution A T downstream_gene_variant LUSC-US 18 56348415 56348415 single base substitution G T 5_prime_UTR_variant LUSC-US 18 56348415 56348415 single base substitution G T stop_gained E75* 223G>T MALY-DE 18 56345712 56345712 single base substitution T C intron_variant MALY-DE 18 56351668 56351669 deletion of <=200bp AC - intron_variant MALY-DE 18 56361794 56361794 single base substitution T C intron_variant MALY-DE 18 56364244 56364244 single base substitution T G intron_variant MALY-DE 18 56374640 56374640 single base substitution G T intron_variant MALY-DE 18 56376421 56376421 single base substitution C G intron_variant MALY-DE 18 56389322 56389322 insertion of <=200bp - ATCATCCAC intron_variant MALY-DE 18 56390148 56390151 deletion of <=200bp TAAA - intron_variant MALY-DE 18 56394846 56394846 single base substitution G T intron_variant MALY-DE 18 56395861 56395861 single base substitution T A intron_variant MALY-DE 18 56395861 56395861 single base substitution T A upstream_gene_variant MALY-DE 18 56398818 56398818 single base substitution G A intron_variant MALY-DE 18 56398818 56398818 single base substitution G A upstream_gene_variant MELA-AU 18 56333678 56333678 single base substitution C T upstream_gene_variant MELA-AU 18 56333699 56333699 single base substitution C T upstream_gene_variant MELA-AU 18 56333958 56333958 single base substitution G A upstream_gene_variant MELA-AU 18 56333975 56333975 single base substitution C T upstream_gene_variant MELA-AU 18 56334141 56334141 single base substitution T G upstream_gene_variant MELA-AU 18 56334326 56334326 single base substitution G A upstream_gene_variant MELA-AU 18 56334402 56334402 single base substitution G A upstream_gene_variant MELA-AU 18 56334542 56334542 single base substitution G A upstream_gene_variant MELA-AU 18 56334753 56334753 single base substitution G A upstream_gene_variant MELA-AU 18 56334757 56334757 single base substitution G A upstream_gene_variant MELA-AU 18 56334791 56334791 single base substitution G T upstream_gene_variant MELA-AU 18 56334808 56334808 single base substitution C T upstream_gene_variant MELA-AU 18 56334917 56334917 single base substitution G A upstream_gene_variant MELA-AU 18 56334947 56334947 single base substitution G A upstream_gene_variant MELA-AU 18 56335423 56335424 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 18 56335685 56335685 single base substitution C T upstream_gene_variant MELA-AU 18 56335923 56335923 single base substitution C T upstream_gene_variant MELA-AU 18 56336468 56336468 single base substitution C T upstream_gene_variant MELA-AU 18 56336657 56336657 single base substitution C T upstream_gene_variant MELA-AU 18 56336978 56336978 single base substitution G A upstream_gene_variant MELA-AU 18 56337152 56337152 single base substitution G A upstream_gene_variant MELA-AU 18 56337941 56337941 single base substitution C T upstream_gene_variant MELA-AU 18 56338445 56338445 single base substitution C T upstream_gene_variant MELA-AU 18 56338601 56338601 single base substitution C T upstream_gene_variant MELA-AU 18 56338609 56338609 single base substitution C T upstream_gene_variant MELA-AU 18 56338637 56338637 single base substitution C T 5_prime_UTR_variant MELA-AU 18 56338637 56338637 single base substitution C T upstream_gene_variant MELA-AU 18 56341043 56341043 single base substitution T C intron_variant MELA-AU 18 56341554 56341554 single base substitution C T intron_variant MELA-AU 18 56342091 56342091 single base substitution C T intron_variant MELA-AU 18 56342752 56342752 single base substitution T G intron_variant MELA-AU 18 56342818 56342818 single base substitution C T intron_variant MELA-AU 18 56342825 56342825 single base substitution C T intron_variant MELA-AU 18 56343058 56343058 single base substitution A G intron_variant MELA-AU 18 56343258 56343258 single base substitution C T intron_variant MELA-AU 18 56344598 56344598 single base substitution G A intron_variant MELA-AU 18 56344723 56344723 single base substitution T C intron_variant MELA-AU 18 56345394 56345394 single base substitution C T intron_variant MELA-AU 18 56345544 56345544 single base substitution C G intron_variant MELA-AU 18 56345890 56345890 single base substitution C T intron_variant MELA-AU 18 56346108 56346109 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56346146 56346146 single base substitution C T intron_variant MELA-AU 18 56346561 56346561 single base substitution C T intron_variant MELA-AU 18 56346791 56346791 single base substitution C T intron_variant MELA-AU 18 56346816 56346816 single base substitution C T intron_variant MELA-AU 18 56347153 56347153 single base substitution G A intron_variant MELA-AU 18 56347881 56347881 single base substitution C T intron_variant MELA-AU 18 56348232 56348232 single base substitution C T intron_variant MELA-AU 18 56348779 56348779 single base substitution A G intron_variant MELA-AU 18 56349074 56349074 single base substitution C T intron_variant MELA-AU 18 56349148 56349148 single base substitution C T intron_variant MELA-AU 18 56350761 56350761 single base substitution C T intron_variant MELA-AU 18 56353638 56353638 single base substitution G A intron_variant MELA-AU 18 56353663 56353663 single base substitution C T intron_variant MELA-AU 18 56354779 56354779 single base substitution C T intron_variant MELA-AU 18 56355812 56355812 single base substitution C T intron_variant MELA-AU 18 56356014 56356014 single base substitution C T intron_variant MELA-AU 18 56356454 56356454 single base substitution C T intron_variant MELA-AU 18 56356529 56356529 single base substitution C T intron_variant MELA-AU 18 56357715 56357715 single base substitution C T intron_variant MELA-AU 18 56357927 56357927 single base substitution C T intron_variant MELA-AU 18 56358350 56358350 single base substitution C T intron_variant MELA-AU 18 56358675 56358676 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 18 56359728 56359728 single base substitution C T intron_variant MELA-AU 18 56360167 56360167 single base substitution C T intron_variant MELA-AU 18 56360338 56360338 single base substitution C T intron_variant MELA-AU 18 56361420 56361420 single base substitution C T intron_variant MELA-AU 18 56361577 56361578 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 18 56361773 56361773 single base substitution C T intron_variant MELA-AU 18 56361855 56361855 single base substitution T C intron_variant MELA-AU 18 56362137 56362137 single base substitution C T intron_variant MELA-AU 18 56362388 56362388 single base substitution C T intron_variant MELA-AU 18 56362549 56362549 single base substitution C T intron_variant MELA-AU 18 56362553 56362553 single base substitution C T intron_variant MELA-AU 18 56362603 56362603 single base substitution C T intron_variant MELA-AU 18 56362886 56362886 single base substitution C T intron_variant MELA-AU 18 56363554 56363554 single base substitution C T intron_variant MELA-AU 18 56363751 56363751 single base substitution C T intron_variant MELA-AU 18 56364205 56364205 single base substitution C T intron_variant MELA-AU 18 56364956 56364956 single base substitution G A intron_variant MELA-AU 18 56365268 56365268 insertion of <=200bp - TTT intron_variant MELA-AU 18 56365389 56365389 single base substitution C T intron_variant MELA-AU 18 56365524 56365524 single base substitution C T intron_variant MELA-AU 18 56365525 56365525 single base substitution C T intron_variant MELA-AU 18 56365591 56365592 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56365603 56365603 single base substitution C T intron_variant MELA-AU 18 56366277 56366277 single base substitution C A intron_variant MELA-AU 18 56366292 56366292 single base substitution C T intron_variant MELA-AU 18 56366557 56366557 single base substitution G A intron_variant MELA-AU 18 56366846 56366846 single base substitution C G intron_variant MELA-AU 18 56366911 56366911 single base substitution C T intron_variant MELA-AU 18 56367625 56367625 single base substitution G A intron_variant MELA-AU 18 56367934 56367934 single base substitution C T downstream_gene_variant MELA-AU 18 56367934 56367934 single base substitution C T intron_variant MELA-AU 18 56368097 56368097 single base substitution C T downstream_gene_variant MELA-AU 18 56368097 56368097 single base substitution C T intron_variant MELA-AU 18 56368587 56368587 single base substitution C T downstream_gene_variant MELA-AU 18 56368587 56368587 single base substitution C T intron_variant MELA-AU 18 56368647 56368647 single base substitution C T downstream_gene_variant MELA-AU 18 56368647 56368647 single base substitution C T intron_variant MELA-AU 18 56369049 56369049 single base substitution C T downstream_gene_variant MELA-AU 18 56369049 56369049 single base substitution C T intron_variant MELA-AU 18 56370615 56370615 single base substitution C T downstream_gene_variant MELA-AU 18 56370615 56370615 single base substitution C T intron_variant MELA-AU 18 56371030 56371030 single base substitution T G downstream_gene_variant MELA-AU 18 56371030 56371030 single base substitution T G intron_variant MELA-AU 18 56371170 56371170 single base substitution A T downstream_gene_variant MELA-AU 18 56371170 56371170 single base substitution A T intron_variant MELA-AU 18 56373004 56373004 single base substitution C T intron_variant MELA-AU 18 56373957 56373957 single base substitution C T intron_variant MELA-AU 18 56374335 56374335 single base substitution T C intron_variant MELA-AU 18 56374738 56374738 single base substitution A C intron_variant MELA-AU 18 56375130 56375130 single base substitution C T intron_variant MELA-AU 18 56375438 56375438 single base substitution C G intron_variant MELA-AU 18 56376717 56376717 single base substitution A C missense_variant S253R 757A>C MELA-AU 18 56376879 56376879 single base substitution C T intron_variant MELA-AU 18 56377901 56377901 single base substitution T C intron_variant MELA-AU 18 56378153 56378153 single base substitution G A intron_variant MELA-AU 18 56378153 56378153 single base substitution G A missense_variant G309E 926G>A MELA-AU 18 56378726 56378726 single base substitution C T intron_variant MELA-AU 18 56378861 56378861 single base substitution C T intron_variant MELA-AU 18 56379010 56379010 single base substitution C T intron_variant MELA-AU 18 56380179 56380179 single base substitution G A intron_variant MELA-AU 18 56380189 56380189 single base substitution C T intron_variant MELA-AU 18 56380332 56380332 single base substitution G A intron_variant MELA-AU 18 56380759 56380759 single base substitution C T intron_variant MELA-AU 18 56381010 56381010 single base substitution C T intron_variant MELA-AU 18 56381450 56381450 single base substitution T C intron_variant MELA-AU 18 56381567 56381567 single base substitution G A intron_variant MELA-AU 18 56381609 56381609 single base substitution C T intron_variant MELA-AU 18 56382280 56382280 single base substitution C T intron_variant MELA-AU 18 56382539 56382539 single base substitution C T intron_variant MELA-AU 18 56382544 56382544 single base substitution C T intron_variant MELA-AU 18 56382696 56382696 single base substitution C T intron_variant MELA-AU 18 56382969 56382969 single base substitution G A intron_variant MELA-AU 18 56383101 56383101 single base substitution C T intron_variant MELA-AU 18 56383630 56383630 single base substitution G A intron_variant MELA-AU 18 56385686 56385686 single base substitution C T intron_variant MELA-AU 18 56385823 56385824 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56386473 56386473 single base substitution A G intron_variant MELA-AU 18 56386635 56386635 single base substitution C T intron_variant MELA-AU 18 56386663 56386663 single base substitution C T intron_variant MELA-AU 18 56386998 56386998 single base substitution C T intron_variant MELA-AU 18 56387173 56387173 single base substitution C T intron_variant MELA-AU 18 56387180 56387180 single base substitution T A intron_variant MELA-AU 18 56387388 56387388 single base substitution C T intron_variant MELA-AU 18 56387459 56387459 single base substitution G A intron_variant MELA-AU 18 56388254 56388254 single base substitution C T intron_variant MELA-AU 18 56388598 56388598 single base substitution G A intron_variant MELA-AU 18 56389364 56389364 single base substitution C T intron_variant MELA-AU 18 56389431 56389431 single base substitution C T intron_variant MELA-AU 18 56389683 56389683 single base substitution C T intron_variant MELA-AU 18 56389919 56389919 single base substitution C T intron_variant MELA-AU 18 56390218 56390218 single base substitution C T intron_variant MELA-AU 18 56390281 56390281 single base substitution G A splice_region_variant MELA-AU 18 56390296 56390296 single base substitution C T synonymous_variant A334A 1002C>T MELA-AU 18 56390296 56390296 single base substitution C T synonymous_variant A345A 1035C>T MELA-AU 18 56390613 56390613 single base substitution T C intron_variant MELA-AU 18 56390891 56390892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56391478 56391478 single base substitution C T intron_variant MELA-AU 18 56391535 56391535 single base substitution A G intron_variant MELA-AU 18 56393029 56393029 single base substitution A T intron_variant MELA-AU 18 56393041 56393041 single base substitution C T intron_variant MELA-AU 18 56393311 56393311 single base substitution C T intron_variant MELA-AU 18 56393778 56393778 single base substitution T C intron_variant MELA-AU 18 56394048 56394048 single base substitution C T intron_variant MELA-AU 18 56394279 56394279 single base substitution T C intron_variant MELA-AU 18 56394401 56394401 single base substitution C T intron_variant MELA-AU 18 56394756 56394756 single base substitution C T intron_variant MELA-AU 18 56395123 56395123 single base substitution G A intron_variant MELA-AU 18 56395194 56395194 single base substitution C T intron_variant MELA-AU 18 56395908 56395908 single base substitution C T intron_variant MELA-AU 18 56395908 56395908 single base substitution C T upstream_gene_variant MELA-AU 18 56396028 56396028 single base substitution G A intron_variant MELA-AU 18 56396028 56396028 single base substitution G A upstream_gene_variant MELA-AU 18 56396848 56396848 single base substitution C T intron_variant MELA-AU 18 56396848 56396848 single base substitution C T upstream_gene_variant MELA-AU 18 56397549 56397549 single base substitution C T intron_variant MELA-AU 18 56397549 56397549 single base substitution C T upstream_gene_variant MELA-AU 18 56397857 56397857 single base substitution C T intron_variant MELA-AU 18 56397857 56397857 single base substitution C T upstream_gene_variant MELA-AU 18 56398068 56398068 single base substitution A G intron_variant MELA-AU 18 56398068 56398068 single base substitution A G upstream_gene_variant MELA-AU 18 56398286 56398286 single base substitution C T intron_variant MELA-AU 18 56398286 56398286 single base substitution C T upstream_gene_variant MELA-AU 18 56398632 56398632 single base substitution C T intron_variant MELA-AU 18 56398632 56398632 single base substitution C T upstream_gene_variant MELA-AU 18 56398665 56398665 single base substitution C T intron_variant MELA-AU 18 56398665 56398665 single base substitution C T upstream_gene_variant MELA-AU 18 56398688 56398688 single base substitution C T intron_variant MELA-AU 18 56398688 56398688 single base substitution C T upstream_gene_variant MELA-AU 18 56398780 56398780 single base substitution C T intron_variant MELA-AU 18 56398780 56398780 single base substitution C T upstream_gene_variant MELA-AU 18 56399745 56399745 single base substitution C T intron_variant MELA-AU 18 56399745 56399745 single base substitution C T upstream_gene_variant MELA-AU 18 56400031 56400031 single base substitution T C intron_variant MELA-AU 18 56400031 56400031 single base substitution T C upstream_gene_variant MELA-AU 18 56400963 56400963 single base substitution C T exon_variant MELA-AU 18 56400963 56400963 single base substitution C T intron_variant MELA-AU 18 56400964 56400964 single base substitution C T exon_variant MELA-AU 18 56400964 56400964 single base substitution C T intron_variant MELA-AU 18 56401065 56401065 single base substitution C T exon_variant MELA-AU 18 56401065 56401065 single base substitution C T intron_variant MELA-AU 18 56401501 56401501 single base substitution C T exon_variant MELA-AU 18 56401501 56401501 single base substitution C T intron_variant MELA-AU 18 56402018 56402018 single base substitution C T intron_variant MELA-AU 18 56402751 56402751 single base substitution C T intron_variant MELA-AU 18 56402957 56402957 single base substitution C T intron_variant MELA-AU 18 56403086 56403086 single base substitution A T intron_variant MELA-AU 18 56403099 56403099 single base substitution C T intron_variant MELA-AU 18 56403404 56403404 single base substitution C T intron_variant MELA-AU 18 56403540 56403540 single base substitution C T intron_variant MELA-AU 18 56403573 56403573 single base substitution C T intron_variant MELA-AU 18 56403769 56403769 single base substitution T C intron_variant MELA-AU 18 56403769 56403769 single base substitution T C upstream_gene_variant MELA-AU 18 56404179 56404179 single base substitution A G intron_variant MELA-AU 18 56404179 56404179 single base substitution A G upstream_gene_variant MELA-AU 18 56404220 56404220 single base substitution C T intron_variant MELA-AU 18 56404220 56404220 single base substitution C T upstream_gene_variant MELA-AU 18 56404250 56404250 single base substitution C T intron_variant MELA-AU 18 56404250 56404250 single base substitution C T upstream_gene_variant MELA-AU 18 56404287 56404287 single base substitution C T intron_variant MELA-AU 18 56404287 56404287 single base substitution C T upstream_gene_variant MELA-AU 18 56404906 56404906 single base substitution C T intron_variant MELA-AU 18 56404906 56404906 single base substitution C T upstream_gene_variant MELA-AU 18 56404939 56404939 single base substitution C T intron_variant MELA-AU 18 56404939 56404939 single base substitution C T upstream_gene_variant MELA-AU 18 56405344 56405344 single base substitution C T intron_variant MELA-AU 18 56405344 56405344 single base substitution C T upstream_gene_variant MELA-AU 18 56405345 56405345 single base substitution C T intron_variant MELA-AU 18 56405345 56405345 single base substitution C T upstream_gene_variant MELA-AU 18 56405358 56405358 single base substitution C T intron_variant MELA-AU 18 56405358 56405358 single base substitution C T upstream_gene_variant MELA-AU 18 56405578 56405578 single base substitution C T intron_variant MELA-AU 18 56405578 56405578 single base substitution C T upstream_gene_variant MELA-AU 18 56406485 56406485 single base substitution C T intron_variant MELA-AU 18 56406485 56406485 single base substitution C T upstream_gene_variant MELA-AU 18 56407356 56407356 single base substitution C T intron_variant MELA-AU 18 56407356 56407356 single base substitution C T upstream_gene_variant MELA-AU 18 56407662 56407662 single base substitution T A intron_variant MELA-AU 18 56407662 56407662 single base substitution T A upstream_gene_variant MELA-AU 18 56407708 56407708 single base substitution C T intron_variant MELA-AU 18 56407708 56407708 single base substitution C T upstream_gene_variant MELA-AU 18 56407882 56407882 single base substitution A C intron_variant MELA-AU 18 56407882 56407882 single base substitution A C upstream_gene_variant MELA-AU 18 56408069 56408069 single base substitution C T intron_variant MELA-AU 18 56408069 56408069 single base substitution C T upstream_gene_variant MELA-AU 18 56408090 56408090 single base substitution C T intron_variant MELA-AU 18 56408090 56408090 single base substitution C T upstream_gene_variant MELA-AU 18 56408193 56408193 single base substitution C T intron_variant MELA-AU 18 56408193 56408193 single base substitution C T upstream_gene_variant MELA-AU 18 56408521 56408521 single base substitution C T intron_variant MELA-AU 18 56408521 56408521 single base substitution C T upstream_gene_variant MELA-AU 18 56408532 56408532 single base substitution C T intron_variant MELA-AU 18 56408532 56408532 single base substitution C T upstream_gene_variant MELA-AU 18 56408805 56408805 single base substitution C T exon_variant MELA-AU 18 56408805 56408805 single base substitution C T intron_variant MELA-AU 18 56409311 56409311 single base substitution C T intron_variant MELA-AU 18 56409461 56409461 single base substitution T C intron_variant MELA-AU 18 56409932 56409932 single base substitution G A intron_variant MELA-AU 18 56410241 56410241 single base substitution C T intron_variant MELA-AU 18 56410356 56410356 single base substitution C T intron_variant MELA-AU 18 56410490 56410490 single base substitution C T intron_variant MELA-AU 18 56411185 56411185 single base substitution C T intron_variant MELA-AU 18 56411413 56411413 single base substitution C T intron_variant MELA-AU 18 56412327 56412327 single base substitution C T intron_variant MELA-AU 18 56412534 56412534 single base substitution C T intron_variant MELA-AU 18 56412669 56412669 single base substitution C T intron_variant MELA-AU 18 56412717 56412717 single base substitution C T intron_variant MELA-AU 18 56413583 56413583 single base substitution C T downstream_gene_variant MELA-AU 18 56413583 56413583 single base substitution C T intron_variant MELA-AU 18 56413837 56413838 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 18 56413837 56413838 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 18 56414219 56414219 single base substitution C T downstream_gene_variant MELA-AU 18 56414219 56414219 single base substitution C T intron_variant MELA-AU 18 56414636 56414636 single base substitution G A downstream_gene_variant MELA-AU 18 56414636 56414636 single base substitution G A splice_acceptor_variant MELA-AU 18 56414665 56414665 single base substitution C T downstream_gene_variant MELA-AU 18 56414665 56414665 single base substitution C T exon_variant MELA-AU 18 56414665 56414665 single base substitution C T missense_variant S678L 2033C>T MELA-AU 18 56414665 56414665 single base substitution C T missense_variant S689L 2066C>T MELA-AU 18 56415699 56415699 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56415699 56415699 single base substitution C T downstream_gene_variant MELA-AU 18 56415871 56415871 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56415871 56415871 single base substitution C T downstream_gene_variant MELA-AU 18 56416921 56416921 single base substitution C T 3_prime_UTR_variant MELA-AU 18 56416921 56416921 single base substitution C T downstream_gene_variant MELA-AU 18 56417142 56417142 single base substitution G A 3_prime_UTR_variant MELA-AU 18 56417142 56417142 single base substitution G A downstream_gene_variant MELA-AU 18 56417432 56417432 single base substitution A G downstream_gene_variant MELA-AU 18 56417437 56417437 single base substitution A G downstream_gene_variant MELA-AU 18 56417775 56417775 single base substitution C T downstream_gene_variant MELA-AU 18 56417944 56417944 single base substitution C T downstream_gene_variant MELA-AU 18 56419582 56419582 single base substitution C T downstream_gene_variant MELA-AU 18 56419768 56419768 single base substitution C T downstream_gene_variant MELA-AU 18 56420292 56420292 single base substitution C T downstream_gene_variant MELA-AU 18 56420461 56420461 single base substitution C T downstream_gene_variant MELA-AU 18 56420840 56420840 single base substitution C T downstream_gene_variant MELA-AU 18 56421155 56421155 single base substitution C T downstream_gene_variant MELA-AU 18 56422157 56422157 single base substitution C T downstream_gene_variant MELA-AU 18 56422207 56422207 single base substitution C T downstream_gene_variant ORCA-IN 18 56358632 56358632 single base substitution G C intron_variant ORCA-IN 18 56368749 56368749 single base substitution G T downstream_gene_variant ORCA-IN 18 56368749 56368749 single base substitution G T intron_variant ORCA-IN 18 56372554 56372554 insertion of <=200bp - TGTG downstream_gene_variant ORCA-IN 18 56372554 56372554 insertion of <=200bp - TGTG intron_variant ORCA-IN 18 56399609 56399609 single base substitution A C intron_variant ORCA-IN 18 56399609 56399609 single base substitution A C upstream_gene_variant OV-AU 18 56338671 56338671 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 18 56338671 56338671 single base substitution G T upstream_gene_variant OV-AU 18 56342593 56342593 single base substitution A G intron_variant OV-AU 18 56351497 56351497 single base substitution G A intron_variant OV-AU 18 56366793 56366793 single base substitution A T intron_variant OV-AU 18 56369532 56369532 single base substitution C G downstream_gene_variant OV-AU 18 56369532 56369532 single base substitution C G intron_variant OV-AU 18 56380255 56380255 single base substitution T C intron_variant OV-AU 18 56385112 56385112 single base substitution A G intron_variant OV-AU 18 56385853 56385853 single base substitution T C intron_variant OV-AU 18 56394478 56394478 single base substitution G A intron_variant OV-AU 18 56409733 56409733 single base substitution G C intron_variant OV-AU 18 56409734 56409734 single base substitution T C intron_variant OV-AU 18 56409736 56409736 single base substitution A G intron_variant OV-AU 18 56420242 56420242 single base substitution T A downstream_gene_variant PACA-AU 18 56353638 56353638 single base substitution G A intron_variant PACA-AU 18 56359664 56359669 deletion of <=200bp CTCTCA - intron_variant PACA-AU 18 56368383 56368383 single base substitution A G downstream_gene_variant PACA-AU 18 56368383 56368383 single base substitution A G intron_variant PACA-AU 18 56379665 56379666 deletion of <=200bp GT - intron_variant PACA-AU 18 56380010 56380010 insertion of <=200bp - T intron_variant PACA-AU 18 56388535 56388535 single base substitution C T intron_variant PACA-AU 18 56399667 56399667 single base substitution T C intron_variant PACA-AU 18 56399667 56399667 single base substitution T C upstream_gene_variant PACA-AU 18 56404095 56404095 single base substitution A G intron_variant PACA-AU 18 56404095 56404095 single base substitution A G upstream_gene_variant PACA-AU 18 56407256 56407256 single base substitution T A intron_variant PACA-AU 18 56407256 56407256 single base substitution T A upstream_gene_variant PACA-AU 18 56412933 56412933 single base substitution C T exon_variant PACA-AU 18 56412933 56412933 single base substitution C T synonymous_variant G638G 1914C>T PACA-AU 18 56412933 56412933 single base substitution C T synonymous_variant G649G 1947C>T PACA-AU 18 56419395 56419395 single base substitution G C downstream_gene_variant PACA-CA 18 56335271 56335271 single base substitution T C upstream_gene_variant PACA-CA 18 56341666 56341666 single base substitution G A intron_variant PACA-CA 18 56349424 56349424 single base substitution A G intron_variant PACA-CA 18 56371849 56371868 deletion of <=200bp TGGCTAATTTTTTGTATTTT - downstream_gene_variant PACA-CA 18 56371849 56371868 deletion of <=200bp TGGCTAATTTTTTGTATTTT - intron_variant PACA-CA 18 56373318 56373318 single base substitution C T intron_variant PACA-CA 18 56373477 56373477 single base substitution C T intron_variant PACA-CA 18 56377603 56377603 deletion of <=200bp A - intron_variant PACA-CA 18 56378170 56378170 single base substitution G T intron_variant PACA-CA 18 56378170 56378170 single base substitution G T missense_variant V315L 943G>T PACA-CA 18 56387612 56387612 single base substitution T G intron_variant PACA-CA 18 56392568 56392568 single base substitution G C intron_variant PACA-CA 18 56395861 56395861 single base substitution T A intron_variant PACA-CA 18 56395861 56395861 single base substitution T A upstream_gene_variant PACA-CA 18 56398626 56398626 single base substitution T G intron_variant PACA-CA 18 56398626 56398626 single base substitution T G upstream_gene_variant PACA-CA 18 56407283 56407283 single base substitution A G intron_variant PACA-CA 18 56407283 56407283 single base substitution A G upstream_gene_variant PACA-CA 18 56409536 56409536 single base substitution A G intron_variant PACA-CA 18 56413894 56413894 single base substitution G T downstream_gene_variant PACA-CA 18 56413894 56413894 single base substitution G T intron_variant PACA-CA 18 56416209 56416209 single base substitution T C 3_prime_UTR_variant PACA-CA 18 56416209 56416209 single base substitution T C downstream_gene_variant PACA-CA 18 56419386 56419386 insertion of <=200bp - T downstream_gene_variant PACA-CA 18 56419471 56419480 deletion of <=200bp TCCTCCTGCC - downstream_gene_variant PACA-CA 18 56422073 56422073 single base substitution C A downstream_gene_variant PAEN-AU 18 56352896 56352896 single base substitution C T intron_variant PAEN-AU 18 56359664 56359669 deletion of <=200bp CTCTCA - intron_variant PAEN-AU 18 56382467 56382467 single base substitution T C intron_variant PAEN-AU 18 56407527 56407527 single base substitution G A intron_variant PAEN-AU 18 56407527 56407527 single base substitution G A upstream_gene_variant PAEN-AU 18 56419962 56419962 single base substitution G A downstream_gene_variant PAEN-IT 18 56357262 56357262 single base substitution G A intron_variant PAEN-IT 18 56358575 56358575 single base substitution G T intron_variant PAEN-IT 18 56421418 56421418 single base substitution C G downstream_gene_variant PBCA-DE 18 56342684 56342684 insertion of <=200bp - A intron_variant PBCA-DE 18 56353278 56353278 insertion of <=200bp - AGA intron_variant PBCA-DE 18 56353279 56353282 deletion of <=200bp TTTT - intron_variant PBCA-DE 18 56353807 56353807 single base substitution T A intron_variant PBCA-DE 18 56365268 56365268 single base substitution T G intron_variant PBCA-DE 18 56369949 56369949 insertion of <=200bp - A downstream_gene_variant PBCA-DE 18 56369949 56369949 insertion of <=200bp - A intron_variant PBCA-DE 18 56381454 56381454 single base substitution T C intron_variant PBCA-DE 18 56391123 56391123 single base substitution G T intron_variant PBCA-DE 18 56393578 56393578 insertion of <=200bp - GAGGCTT intron_variant PBCA-DE 18 56400344 56400344 single base substitution C T intron_variant PBCA-DE 18 56400344 56400344 single base substitution C T upstream_gene_variant PBCA-DE 18 56407794 56407794 single base substitution G A intron_variant PBCA-DE 18 56407794 56407794 single base substitution G A upstream_gene_variant PBCA-DE 18 56422074 56422074 single base substitution C G downstream_gene_variant PRAD-CA 18 56345268 56345268 single base substitution T C intron_variant PRAD-CA 18 56353037 56353037 single base substitution G A intron_variant PRAD-CA 18 56374157 56374157 single base substitution C T intron_variant PRAD-CA 18 56386104 56386104 single base substitution G A intron_variant PRAD-CA 18 56393827 56393827 single base substitution A G intron_variant PRAD-CA 18 56401360 56401360 single base substitution A G exon_variant PRAD-CA 18 56401360 56401360 single base substitution A G intron_variant PRAD-CA 18 56408685 56408685 single base substitution T A exon_variant PRAD-CA 18 56408685 56408685 single base substitution T A intron_variant PRAD-CA 18 56416717 56416717 single base substitution A C 3_prime_UTR_variant PRAD-CA 18 56416717 56416717 single base substitution A C downstream_gene_variant PRAD-UK 18 56338093 56338093 single base substitution G C upstream_gene_variant PRAD-UK 18 56348417 56348417 single base substitution G A 5_prime_UTR_variant PRAD-UK 18 56348417 56348417 single base substitution G A synonymous_variant E75E 225G>A PRAD-UK 18 56358390 56358390 single base substitution C T intron_variant PRAD-UK 18 56370559 56370574 deletion of <=200bp AGCCTGGGTGACAGAG - downstream_gene_variant PRAD-UK 18 56370559 56370574 deletion of <=200bp AGCCTGGGTGACAGAG - intron_variant PRAD-UK 18 56376718 56376718 single base substitution G T missense_variant S253I 758G>T PRAD-UK 18 56381038 56381038 deletion of <=200bp A - intron_variant PRAD-UK 18 56391645 56391655 deletion of <=200bp ACTTTATTTAT - intron_variant PRAD-UK 18 56399729 56399796 deletion of <=200bp CTGCGAAGTCAGATTTCCCATCTCTGATTATAAAACTATATATTTTAATAACCCTTAACTGTTTATGG - intron_variant PRAD-UK 18 56399729 56399796 deletion of <=200bp CTGCGAAGTCAGATTTCCCATCTCTGATTATAAAACTATATATTTTAATAACCCTTAACTGTTTATGG - upstream_gene_variant RECA-EU 18 56334540 56334540 single base substitution G T upstream_gene_variant RECA-EU 18 56341422 56341422 single base substitution T C intron_variant RECA-EU 18 56341635 56341635 single base substitution G T intron_variant RECA-EU 18 56346303 56346303 single base substitution C A intron_variant RECA-EU 18 56346318 56346318 single base substitution G T intron_variant RECA-EU 18 56346319 56346319 single base substitution A T intron_variant RECA-EU 18 56355338 56355338 single base substitution G C intron_variant RECA-EU 18 56365554 56365554 single base substitution C T intron_variant RECA-EU 18 56374209 56374209 single base substitution A G intron_variant RECA-EU 18 56379597 56379597 single base substitution T G intron_variant RECA-EU 18 56387695 56387695 single base substitution C A intron_variant RECA-EU 18 56388655 56388655 single base substitution C G intron_variant RECA-EU 18 56396831 56396831 single base substitution T G intron_variant RECA-EU 18 56396831 56396831 single base substitution T G upstream_gene_variant RECA-EU 18 56420131 56420131 single base substitution A T downstream_gene_variant RECA-EU 18 56422315 56422315 single base substitution G T downstream_gene_variant SKCA-BR 18 56334008 56334008 single base substitution A T upstream_gene_variant SKCA-BR 18 56334065 56334065 single base substitution A C upstream_gene_variant SKCA-BR 18 56338408 56338408 single base substitution T C upstream_gene_variant SKCA-BR 18 56338640 56338640 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 18 56338640 56338640 single base substitution C T upstream_gene_variant SKCA-BR 18 56338720 56338720 single base substitution A G 5_prime_UTR_variant SKCA-BR 18 56338720 56338720 single base substitution A G upstream_gene_variant SKCA-BR 18 56339352 56339352 single base substitution T C intron_variant SKCA-BR 18 56339352 56339352 single base substitution T C upstream_gene_variant SKCA-BR 18 56339407 56339407 single base substitution G C intron_variant SKCA-BR 18 56339407 56339407 single base substitution G C upstream_gene_variant SKCA-BR 18 56343468 56343468 single base substitution C T intron_variant SKCA-BR 18 56345431 56345431 single base substitution T A intron_variant SKCA-BR 18 56346314 56346314 single base substitution C T intron_variant SKCA-BR 18 56346315 56346315 single base substitution C T intron_variant SKCA-BR 18 56348724 56348724 single base substitution A G intron_variant SKCA-BR 18 56350555 56350555 single base substitution C T intron_variant SKCA-BR 18 56352991 56352991 single base substitution C T intron_variant SKCA-BR 18 56353904 56353904 single base substitution C T intron_variant SKCA-BR 18 56354802 56354802 single base substitution G T intron_variant SKCA-BR 18 56354851 56354851 single base substitution T A intron_variant SKCA-BR 18 56355531 56355531 insertion of <=200bp - TAC intron_variant SKCA-BR 18 56358593 56358593 single base substitution C T intron_variant SKCA-BR 18 56358887 56358887 single base substitution T G intron_variant SKCA-BR 18 56359661 56359661 single base substitution T A intron_variant SKCA-BR 18 56359665 56359681 deletion of <=200bp TCTCACTCTCTCCCTCC - intron_variant SKCA-BR 18 56360144 56360144 single base substitution A C intron_variant SKCA-BR 18 56360523 56360523 single base substitution A C intron_variant SKCA-BR 18 56360859 56360859 single base substitution C T intron_variant SKCA-BR 18 56362726 56362726 single base substitution C T intron_variant SKCA-BR 18 56368576 56368576 single base substitution G A downstream_gene_variant SKCA-BR 18 56368576 56368576 single base substitution G A intron_variant SKCA-BR 18 56369379 56369379 single base substitution T G downstream_gene_variant SKCA-BR 18 56369379 56369379 single base substitution T G intron_variant SKCA-BR 18 56372554 56372554 insertion of <=200bp - GTGTA downstream_gene_variant SKCA-BR 18 56372554 56372554 insertion of <=200bp - GTGTA intron_variant SKCA-BR 18 56372707 56372707 single base substitution T C downstream_gene_variant SKCA-BR 18 56372707 56372707 single base substitution T C intron_variant SKCA-BR 18 56373246 56373246 single base substitution C G intron_variant SKCA-BR 18 56374788 56374788 single base substitution C T intron_variant SKCA-BR 18 56378770 56378770 single base substitution C T intron_variant SKCA-BR 18 56384860 56384860 single base substitution C T intron_variant SKCA-BR 18 56386242 56386242 single base substitution C T intron_variant SKCA-BR 18 56387554 56387554 single base substitution C T intron_variant SKCA-BR 18 56388549 56388549 single base substitution T C intron_variant SKCA-BR 18 56389098 56389098 single base substitution T G intron_variant SKCA-BR 18 56389339 56389339 single base substitution A T intron_variant SKCA-BR 18 56399987 56399987 insertion of <=200bp - CTATATATATATATA intron_variant SKCA-BR 18 56399987 56399987 insertion of <=200bp - CTATATATATATATA upstream_gene_variant SKCA-BR 18 56399990 56399990 single base substitution G T intron_variant SKCA-BR 18 56399990 56399990 single base substitution G T upstream_gene_variant SKCA-BR 18 56399991 56399991 single base substitution C A intron_variant SKCA-BR 18 56399991 56399991 single base substitution C A upstream_gene_variant SKCA-BR 18 56399993 56399993 single base substitution G A intron_variant SKCA-BR 18 56399993 56399993 single base substitution G A upstream_gene_variant SKCA-BR 18 56399994 56399994 single base substitution C T intron_variant SKCA-BR 18 56399994 56399994 single base substitution C T upstream_gene_variant SKCA-BR 18 56400147 56400148 deletion of <=200bp TA - intron_variant SKCA-BR 18 56400147 56400148 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 18 56402295 56402297 deletion of <=200bp CCA - intron_variant SKCA-BR 18 56406021 56406021 insertion of <=200bp - CTG intron_variant SKCA-BR 18 56406021 56406021 insertion of <=200bp - CTG upstream_gene_variant SKCA-BR 18 56407007 56407007 single base substitution C T intron_variant SKCA-BR 18 56407007 56407007 single base substitution C T upstream_gene_variant SKCA-BR 18 56407799 56407799 single base substitution A G intron_variant SKCA-BR 18 56407799 56407799 single base substitution A G upstream_gene_variant SKCA-BR 18 56407805 56407805 single base substitution C T intron_variant SKCA-BR 18 56407805 56407805 single base substitution C T upstream_gene_variant SKCA-BR 18 56407825 56407825 single base substitution A T intron_variant SKCA-BR 18 56407825 56407825 single base substitution A T upstream_gene_variant SKCA-BR 18 56407829 56407829 single base substitution C T intron_variant SKCA-BR 18 56407829 56407829 single base substitution C T upstream_gene_variant SKCA-BR 18 56412189 56412189 single base substitution C T intron_variant SKCA-BR 18 56413639 56413639 single base substitution C T downstream_gene_variant SKCA-BR 18 56413639 56413639 single base substitution C T intron_variant SKCA-BR 18 56415518 56415518 single base substitution C T 3_prime_UTR_variant SKCA-BR 18 56415518 56415518 single base substitution C T downstream_gene_variant SKCA-BR 18 56420212 56420212 single base substitution C G downstream_gene_variant SKCM-US 18 56348519 56348519 single base substitution C T synonymous_variant F109F 327C>T SKCM-US 18 56348519 56348519 single base substitution C T synonymous_variant F14F 42C>T SKCM-US 18 56363619 56363619 single base substitution C T missense_variant P133L 398C>T SKCM-US 18 56363619 56363619 single base substitution C T missense_variant P38L 113C>T SKCM-US 18 56363682 56363682 single base substitution C T missense_variant P154L 461C>T SKCM-US 18 56363682 56363682 single base substitution C T missense_variant P59L 176C>T SKCM-US 18 56367809 56367809 single base substitution C T missense_variant P117L 350C>T SKCM-US 18 56367809 56367809 single base substitution C T missense_variant P212L 635C>T SKCM-US 18 56376661 56376661 single base substitution C T missense_variant T234I 701C>T SKCM-US 18 56376664 56376664 single base substitution C T missense_variant S235F 704C>T SKCM-US 18 56390306 56390306 single base substitution G A missense_variant G338R 1012G>A SKCM-US 18 56390306 56390306 single base substitution G A missense_variant G349R 1045G>A SKCM-US 18 56390422 56390422 single base substitution T G synonymous_variant T376T 1128T>G SKCM-US 18 56390422 56390422 single base substitution T G synonymous_variant T387T 1161T>G SKCM-US 18 56390461 56390461 single base substitution C T synonymous_variant L389L 1167C>T SKCM-US 18 56390461 56390461 single base substitution C T synonymous_variant L400L 1200C>T SKCM-US 18 56400684 56400684 single base substitution C T synonymous_variant V415V 1245C>T SKCM-US 18 56400684 56400684 single base substitution C T synonymous_variant V426V 1278C>T SKCM-US 18 56400684 56400684 single base substitution C T upstream_gene_variant SKCM-US 18 56401549 56401549 single base substitution G A exon_variant SKCM-US 18 56401549 56401549 single base substitution G A missense_variant D460N 1378G>A SKCM-US 18 56401549 56401549 single base substitution G A missense_variant D471N 1411G>A SKCM-US 18 56402458 56402458 single base substitution A T exon_variant SKCM-US 18 56402458 56402458 single base substitution A T missense_variant E489D 1467A>T SKCM-US 18 56402458 56402458 single base substitution A T missense_variant E500D 1500A>T STAD-US 18 56348528 56348528 single base substitution T C synonymous_variant A112A 336T>C STAD-US 18 56348528 56348528 single base substitution T C synonymous_variant A17A 51T>C STAD-US 18 56363666 56363666 single base substitution C T missense_variant R149W 445C>T STAD-US 18 56363666 56363666 single base substitution C T missense_variant R54W 160C>T STAD-US 18 56376637 56376637 single base substitution A C missense_variant K226T 677A>C STAD-US 18 56376642 56376642 single base substitution C T stop_gained Q228* 682C>T STAD-US 18 56412961 56412961 single base substitution G A exon_variant STAD-US 18 56412961 56412961 single base substitution G A missense_variant V648I 1942G>A STAD-US 18 56412961 56412961 single base substitution G A missense_variant V659I 1975G>A THCA-SA 18 56338678 56338678 single base substitution A C 5_prime_UTR_variant THCA-SA 18 56338678 56338678 single base substitution A C upstream_gene_variant THCA-SA 18 56415034 56415034 single base substitution C T downstream_gene_variant THCA-SA 18 56415034 56415034 single base substitution C T exon_variant THCA-SA 18 56415034 56415034 single base substitution C T missense_variant P801L 2402C>T THCA-SA 18 56415034 56415034 single base substitution C T missense_variant P812L 2435C>T UCEC-US 18 56367802 56367802 single base substitution G A missense_variant D115N 343G>A UCEC-US 18 56367802 56367802 single base substitution G A missense_variant D210N 628G>A UCEC-US 18 56390363 56390363 single base substitution G A missense_variant E357K 1069G>A UCEC-US 18 56390363 56390363 single base substitution G A missense_variant E368K 1102G>A UCEC-US 18 56390364 56390364 single base substitution A G missense_variant E357G 1070A>G UCEC-US 18 56390364 56390364 single base substitution A G missense_variant E368G 1103A>G UCEC-US 18 56400687 56400687 single base substitution C T synonymous_variant P416P 1248C>T UCEC-US 18 56400687 56400687 single base substitution C T synonymous_variant P427P 1281C>T UCEC-US 18 56400687 56400687 single base substitution C T upstream_gene_variant UCEC-US 18 56402496 56402496 single base substitution A C exon_variant UCEC-US 18 56402496 56402496 single base substitution A C missense_variant K502T 1505A>C UCEC-US 18 56402496 56402496 single base substitution A C missense_variant K513T 1538A>C

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EE-A182-06 COSM3526797 c.635C>T p.P212L Substitution - Missense 18:58700577-58700577 + 8067242 COSM3772591 c.1947C>T p.G649G Substitution - coding silent 18:58745701-58745701 + TCGA-D9-A6EA-06 COSM4397970 c.327C>T p.F109F Substitution - coding silent 18:58681287-58681287 + LOVO COSM2880938 c.1651C>T p.R551* Substitution - Nonsense 18:58741912-58741912 + 06-18547 COSM220303 c.1141G>T p.V381F Substitution - Missense 18:58723170-58723170 + PD24304a COSM5787421 c.649+9C>G p.? Unknown 18:58700600-58700600 + T3503 COSM4700042 c.2370C>T p.F790F Substitution - coding silent 18:58747737-58747737 + TCGA-AA-A010-01 COSM282624 c.340G>T p.E114* Substitution - Nonsense 18:58681300-58681300 + TCGA-BS-A0UV-01 COSM989296 c.1102G>A p.E368K Substitution - Missense 18:58723131-58723131 + 0090_CRUK_PC_0090_T1_DNA COSM4420887 c.758G>T p.S253I Substitution - Missense 18:58709486-58709486 + KM12 COSM1680385 c.1265A>G p.N422S Substitution - Missense 18:58733439-58733439 + ESCC_44 COSM5630055 c.2179T>C p.F727L Substitution - Missense 18:58747546-58747546 + TCGA-CF-A1HS-01 COSM417813 c.1490A>T p.E497V Substitution - Missense 18:58735216-58735216 + TCGA-AA-A010-01 COSM282625 c.663C>T p.G221G Substitution - coding silent 18:58709391-58709391 + LC_C33 COSM1189713 c.1174C>T p.R392C Substitution - Missense 18:58723203-58723203 + T578 COSM4700040 c.875T>G p.V292G Substitution - Missense 18:58710022-58710022 + S01873 COSM5672154 c.1282G>A p.V428I Substitution - Missense 18:58733456-58733456 + YUKAT COSM5388302 c.1279C>T p.P427S Substitution - Missense 18:58733453-58733453 + SH-1362 COSM5019348 c.897A>G p.Q299Q Substitution - coding silent 18:58710044-58710044 + TCGA-CD-A4MI-01 COSM4072765 c.445C>T p.R149W Substitution - Missense 18:58696434-58696434 + ESCC_BICR_060T COSM5434959 c.1449C>T p.T483T Substitution - coding silent 18:58734355-58734355 + TCGA-EE-A181-06 COSM3891194 c.1411G>A p.D471N Substitution - Missense 18:58734317-58734317 + TCGA-AA-3864-01 COSM1189713 c.1174C>T p.R392C Substitution - Missense 18:58723203-58723203 + BD114T COSM5504414 c.247G>A p.E83K Substitution - Missense 18:58681207-58681207 + TCGA-BR-A4CS-01 COSM4072764 c.336T>C p.A112A Substitution - coding silent 18:58681296-58681296 + RH18C COSM4276085 c.377-2A>T p.? Unknown 18:58696364-58696364 + HCC017T COSM5815111 c.1848A>T p.T616T Substitution - coding silent 18:58744432-58744432 + TCGA-B0-4845-01 COSM3362568 c.2294C>G p.P765R Substitution - Missense 18:58747661-58747661 + HCC16 COSM1611320 c.2215A>G p.S739G Substitution - Missense 18:58747582-58747582 + TCGA-AC-A23H-01 COSM3821620 c.1364G>C p.G455A Substitution - Missense 18:58733538-58733538 + 3P3 COSM3733982 c.791A>G p.E264G Substitution - Missense 18:58709519-58709519 + TCGA-25-1326-01 COSM80142 c.1044C>T p.L348L Substitution - coding silent 18:58723106-58723106 + TCGA-D9-A149-06 COSM3526798 c.701C>T p.T234I Substitution - Missense 18:58709429-58709429 + TCGA-06-0141-01 COSM3403590 c.938A>G p.E313G Substitution - Missense 18:58710933-58710933 + TCGA-CC-A7IH-01 COSM4924340 c.2273A>G p.H758R Substitution - Missense 18:58747640-58747640 + 74 COSM4777585 c.1985A>C p.D662A Substitution - Missense 18:58745739-58745739 + TCGA-BR-4188-01 COSM4072766 c.677A>C p.K226T Substitution - Missense 18:58709405-58709405 + TCGA-G4-6302-01 COSM2880940 c.1726C>T p.R576W Substitution - Missense 18:58741987-58741987 + TCGA-A6-5665-01 COSM1389345 c.368_369insCC p.G126fs*3 Insertion - Frameshift 18:58681328-58681329 + TCGA-LP-A4AV-01 COSM4825235 c.1423C>G p.P475A Substitution - Missense 18:58734329-58734329 + 3T COSM3733982 c.791A>G p.E264G Substitution - Missense 18:58709519-58709519 + WA46 COSM237696 c.1410C>T p.Y470Y Substitution - coding silent 18:58734316-58734316 + 587376 COSM1214284 c.736T>G p.L246V Substitution - Missense 18:58709464-58709464 + 136T COSM5576031 c.376G>T p.G126* Substitution - Nonsense 18:58681336-58681336 + SNU-175 COSM2880941 c.1835T>C p.M612T Substitution - Missense 18:58744419-58744419 + LIM2405 COSM4642217 c.1181C>T p.A394V Substitution - Missense 18:58723210-58723210 + TCGA-D1-A17U-01 COSM989294 c.591C>A p.T197T Substitution - coding silent 18:58700533-58700533 + TCGA-EE-A180-06 COSM3526796 c.461C>T p.P154L Substitution - Missense 18:58696450-58696450 + TCGA-AP-A056-01 COSM989295 c.628G>A p.D210N Substitution - Missense 18:58700570-58700570 + TCGA-EE-A183-06 COSM3526803 c.1500A>T p.E500D Substitution - Missense 18:58735226-58735226 + Gp5D COSM2880924 c.781T>C p.F261L Substitution - Missense 18:58709509-58709509 + cSCCP2 COSM137675 c.839T>G p.V280G Substitution - Missense 18:58709986-58709986 + STC232 COSM5056086 c.1019C>T p.A340V Substitution - Missense 18:58723048-58723048 + S02242 COSM5677203 c.158G>T p.G53V Substitution - Missense 18:58671801-58671801 + CSCC-41-T COSM4571130 c.387T>C p.I129I Substitution - coding silent 18:58696376-58696376 + Br27P COSM40295 c.2383G>A p.E795K Substitution - Missense 18:58747783-58747783 + TCGA-GC-A3RC-01 COSM3796470 c.1145C>T p.S382L Substitution - Missense 18:58723174-58723174 + TCGA-B0-5116-01 COSM473952 c.680T>C p.L227S Substitution - Missense 18:58709408-58709408 + ccRCC-21 COSM1662679 c.2085G>T p.L695F Substitution - Missense 18:58747452-58747452 + TCGA-D3-A5GS-06 COSM3526802 c.1278C>T p.V426V Substitution - coding silent 18:58733452-58733452 + LOVO COSM989296 c.1102G>A p.E368K Substitution - Missense 18:58723131-58723131 + TCGA-MH-A561-01 COSM3989600 c.1396A>G p.K466E Substitution - Missense 18:58733570-58733570 + C467 COSM4442057 c.1742C>T p.A581V Substitution - Missense 18:58742003-58742003 + CSCC-29-T COSM4458439 c.1085C>T p.P362L Substitution - Missense 18:58723114-58723114 + TCGA-AP-A0LM-01 COSM989297 c.1103A>G p.E368G Substitution - Missense 18:58723132-58723132 + T578 COSM327912 c.2155C>T p.R719* Substitution - Nonsense 18:58747522-58747522 + TCGA-AA-3815-01 COSM1389347 c.608G>A p.W203* Substitution - Nonsense 18:58700550-58700550 + S02350 COSM5694707 c.767C>G p.P256R Substitution - Missense 18:58709495-58709495 + 91827 COSM330359 c.731T>A p.L244* Substitution - Nonsense 18:58709459-58709459 + TCGA-DK-A2I6-01 COSM1303793 c.232T>C p.S78P Substitution - Missense 18:58681192-58681192 + TCGA-AA-3662-01 COSM5100632 c.1585C>G p.L529V Substitution - Missense 18:58735311-58735311 + TCGA-A2-A0EY-01 COSM438269 c.1924G>A p.D642N Substitution - Missense 18:58745678-58745678 + pfg068T COSM4765240 c.369_370insC p.G126fs*40 Insertion - Frameshift 18:58681329-58681330 + 449 COSM4435436 c.913G>C p.E305Q Substitution - Missense 18:58710060-58710060 + TCGA-B5-A0JY-01 COSM989299 c.1538A>C p.K513T Substitution - Missense 18:58735264-58735264 + TCGA-GV-A3QG-01 COSM1303794 c.2390A>G p.H797R Substitution - Missense 18:58747757-58747757 + TCGA-DA-A1I5-06 COSM3526801 c.1200C>T p.L400L Substitution - coding silent 18:58723229-58723229 + TCGA-D3-A51J-06 COSM3526795 c.398C>T p.P133L Substitution - Missense 18:58696387-58696387 + PCSI_0608_Pa_P_526 COSM5761978 c.943G>T p.V315L Substitution - Missense 18:58710938-58710938 + TCGA-AA-3663-01 COSM3692159 c.936T>C p.D312D Substitution - coding silent 18:58710931-58710931 + SH-7166 COSM5020630 c.649A>G p.R217G Substitution - Missense 18:58700591-58700591 + 3N44-VS-3T44 COSM4982230 c.895C>G p.Q299E Substitution - Missense 18:58710042-58710042 + TCGA-BR-4184-01 COSM4072768 c.1975G>A p.V659I Substitution - Missense 18:58745729-58745729 + TCGA-24-0979-01 COSM80143 c.2238C>T p.F746F Substitution - coding silent 18:58747638-58747638 + WA25 COSM240577 c.800T>G p.L267* Substitution - Nonsense 18:58709528-58709528 + RMS113_ COSM4276085 c.377-2A>T p.? Unknown 18:58696364-58696364 + TCGA-BF-A3DJ-01 COSM4904266 c.704C>T p.S235F Substitution - Missense 18:58709432-58709432 + C086 COSM5534206 c.1876A>G p.I626V Substitution - Missense 18:58744460-58744460 + PTC-28C COSM4131037 c.383A>G p.K128R Substitution - Missense 18:58696372-58696372 + TCGA-BP-4169-01 COSM3362567 c.2219C>T p.S740F Substitution - Missense 18:58747586-58747586 + YUFIT COSM1711435 c.1504C>T p.Q502* Substitution - Nonsense 18:58735230-58735230 + S02400 COSM5699795 c.1711G>C p.A571P Substitution - Missense 18:58741972-58741972 + CSCC-44-T COSM4461330 c.1201C>T p.L401F Substitution - Missense 18:58723230-58723230 + S02344 COSM5693472 c.1602A>T p.E534D Substitution - Missense 18:58735328-58735328 + PTC_448 COSM5959479 c.2435C>T p.P812L Substitution - Missense 18:58747802-58747802 + TCGA-C4-A0F6-01 COSM417814 c.1053G>T p.M351I Substitution - Missense 18:58723082-58723082 + 86788 COSM94656 c.1112C>T p.S371L Substitution - Missense 18:58723174-58723174 + TCGA-61-1910-01 COSM1324542 c.677A>G p.K226R Substitution - Missense 18:58709405-58709405 + 05-P8068 COSM4580475 c.1844A>G p.Y615C Substitution - Missense 18:58744428-58744428 + TCGA-A7-A3IZ-01 COSM3821619 c.894T>A p.S298R Substitution - Missense 18:58710041-58710041 + 0004_CRUK_PC_0004_T1_DNA COSM5422488 c.225G>A p.E75E Substitution - coding silent 18:58681185-58681185 + HCC13T COSM1611319 c.1676C>T p.A559V Substitution - Missense 18:58741937-58741937 + TCGA-BC-A217-01 COSM4936936 c.1475+1G>A p.? Unknown 18:58734382-58734382 + TCGA-AP-A051-01 COSM989298 c.1281C>T p.P427P Substitution - coding silent 18:58733455-58733455 + HCC16T COSM1611320 c.2215A>G p.S739G Substitution - Missense 18:58747582-58747582 + TCGA-34-5232-01 COSM709231 c.223G>T p.E75* Substitution - Nonsense 18:58681183-58681183 + TCGA-EE-A2MC-06 COSM3526800 c.1161T>G p.T387T Substitution - coding silent 18:58723190-58723190 + CSCC-42-T COSM4478057 c.2207C>T p.P736L Substitution - Missense 18:58747574-58747574 + PT33 COSM5909664 c.373C>T p.P125S Substitution - Missense 18:58681333-58681333 + YUKLAB COSM1711435 c.1504C>T p.Q502* Substitution - Nonsense 18:58735230-58735230 + 1731645 COSM327912 c.2155C>T p.R719* Substitution - Nonsense 18:58747522-58747522 + 81-52884 COSM220693 c.2249A>C p.Y750S Substitution - Missense 18:58747616-58747616 + DLBCL-PatientC COSM220303 c.1141G>T p.V381F Substitution - Missense 18:58723170-58723170 + TCGA-BR-4188-01 COSM4072767 c.682C>T p.Q228* Substitution - Nonsense 18:58709410-58709410 + TCGA-G3-A25S-01 COSM4926723 c.2428G>A p.E810K Substitution - Missense 18:58747795-58747795 + HCC13 COSM1611319 c.1676C>T p.A559V Substitution - Missense 18:58741937-58741937 + RMS106_ COSM4276085 c.377-2A>T p.? Unknown 18:58696364-58696364 + SJOS004_D COSM5023060 c.750T>G p.A250A Substitution - coding silent 18:58709478-58709478 + TCGA-EE-A3JI-06 COSM3526799 c.1045G>A p.G349R Substitution - Missense 18:58723074-58723074 + TCGA-AA-3492-01 COSM1389346 c.369delC p.P125fs*3 Deletion - Frameshift 18:58681329-58681329 + Gp2D COSM2880924 c.781T>C p.F261L Substitution - Missense 18:58709509-58709509 + RMS66_ COSM4276085 c.377-2A>T p.? Unknown 18:58696364-58696364 + TCGA-AD-6901-01 COSM1389348 c.1459G>A p.V487M Substitution - Missense 18:58734365-58734365 + HCC127T COSM327912 c.2155C>T p.R719* Substitution - Nonsense 18:58747522-58747522 + HCC127 COSM327912 c.2155C>T p.R719* Substitution - Nonsense 18:58747522-58747522 + T475 COSM4700041 c.1775T>G p.L592R Substitution - Missense 18:58744359-58744359 + KM12 COSM1680385 c.1265A>G p.N422S Substitution - Missense 18:58733439-58733439 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.601217 18q21 604860

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K226T c.677A>C 18 56376637 STAD A - Frameshift p.N438Ifs*9 c.1313delA 18 56400716 GBM AGG - IntronicDeletion . c.2038-678_2038-676delAGG 18 56413959 CLL A G Missense p.E313G c.938A>G 18 56378165 GBM A G Missense p.H797R c.2390A>G 18 56414989 BLCA A T Missense p.E497V c.1490A>T 18 56402448 BLCA A T Missense p.E500D c.1500A>T 18 56402458 CM A T Missense p.K557M c.1670A>T 18 56409163 LUAD A T SpliceAcceptorSNV . c.1754-2A>T 18 56411568 LUAD C G Missense p.P765R c.2294C>G 18 56414893 RCCC C T IntronicSNV . c.377-5839C>T 18 56357759 GBM C T Missense p.P154L c.461C>T 18 56363682 CM C T Missense p.P212L c.635C>T 18 56367809 CM C T Missense p.S235F c.704C>T 18 56376664 CM C T Missense p.S382L c.1145C>T 18 56390406 CM C T Missense p.S382L c.1145C>T 18 56390406 LUAD C T Missense p.S740F c.2219C>T 18 56414818 RCCC C T Missense p.T234I c.701C>T 18 56376661 CM C T Nonsense p.Q120* c.358C>T 18 56348550 LUAD C T Nonsense p.Q228* c.682C>T 18 56376642 STAD C T Synonymous p.F109F c.327C>T 18 56348519 CM C T Synonymous p.F757F c.2271C>T 18 56414870 OV C T Synonymous p.L359L c.1077C>T 18 56390338 OV C T Synonymous p.L373L c.1117C>T 18 56390378 CM C T Synonymous p.L400L c.1200C>T 18 56390461 CM G A Missense p.D429N c.1285G>A 18 56400691 HNSC G A Missense p.D471N c.1411G>A 18 56401549 CM G A Missense p.D642N c.1924G>A 18 56412910 BRCA G A Missense p.E806K c.2416G>A 18 56415015 GBM G A Missense p.G349R c.1045G>A 18 56390306 CM G A Missense p.R217K c.650G>A 18 56376610 CM G C Missense p.G495A c.1484G>C 18 56402442 HNSC G C Missense p.M612I c.1836G>C 18 56411652 HNSC G T Missense p.M351I c.1053G>T 18 56390314 BLCA G T Nonsense p.E75* c.223G>T 18 56348415 LUSC G T Nonsense p.G86* c.256G>T 18 56348448 STAD T C Missense p.L146P c.437T>C 18 56363658 LUAD T C Missense p.S78P c.232T>C 18 56348424 BLCA T G Synonymous p.T387T c.1161T>G 18 56390422 CM