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 ACC 17 61771099 61771099 + Missense_Mutation SNP G G C TCGA-OR-A5KZ-01A-11D-A29I-10 TCGA-OR-A5KZ-10A-01D-A29L-10 g.chr17:61771099G>C c.1843G>C c.(1843-1845)Gag>Cag p.E615Q BLCA 17 61710043 61710043 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr17:61710043G>A c.7G>A c.(7-9)Gaa>Aaa p.E3K BLCA 17 61766936 61766936 + Nonsense_Mutation SNP C C T TCGA-G2-AA3B-01A-11D-A391-08 TCGA-G2-AA3B-10A-01D-A394-08 g.chr17:61766936C>T c.904C>T c.(904-906)Caa>Taa p.Q302* BLCA 17 61767079 61767079 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr17:61767079G>A c.1047G>A c.(1045-1047)agG>agA p.R349R BLCA 17 61768566 61768566 + Silent SNP G G C TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr17:61768566G>C c.1317G>C c.(1315-1317)ctG>ctC p.L439L BLCA 17 61769736 61769736 + Missense_Mutation SNP G G A TCGA-GU-AATO-01A-11D-A391-08 TCGA-GU-AATO-10A-01D-A394-08 g.chr17:61769736G>A c.1609G>A c.(1609-1611)Gag>Aag p.E537K BRCA 17 61771096 61771096 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 g.chr17:61771096G>C c.1840G>C c.(1840-1842)Gag>Cag p.E614Q CESC 17 61771015 61771015 + Missense_Mutation SNP C C A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr17:61771015C>A c.1759C>A c.(1759-1761)Cag>Aag p.Q587K CHOL 17 61767703 61767703 + Silent SNP C C T TCGA-W6-AA0S-01A-11D-A417-09 TCGA-W6-AA0S-10A-01D-A41A-09 g.chr17:61767703C>T c.1143C>T c.(1141-1143)gaC>gaT p.D381D COAD 17 61710124 61710124 + Missense_Mutation SNP A A T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:61710124A>T c.88A>T c.(88-90)Acc>Tcc p.T30S COAD 17 61723434 61723434 + Splice_Site SNP G G A TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr17:61723434G>A c.167G>A c.(166-168)cGa>cAa p.R56Q COAD 17 61759156 61759156 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:61759156C>T c.533C>T c.(532-534)cCc>cTc p.P178L COAD 17 61762931 61762931 + Silent SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:61762931T>C c.691T>C c.(691-693)Ttg>Ctg p.L231L COAD 17 61767716 61767716 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:61767716C>T c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C COAD 17 61768521 61768521 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:61768521C>T c.1272C>T c.(1270-1272)atC>atT p.I424I COAD 17 61769665 61769665 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:61769665G>A c.1538G>A c.(1537-1539)cGc>cAc p.R513H COAD 17 61771045 61771045 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr17:61771045C>T c.1789C>T c.(1789-1791)Cgg>Tgg p.R597W COADREAD 17 61710124 61710124 + Missense_Mutation SNP A A T TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:61710124A>T c.88A>T c.(88-90)Acc>Tcc p.T30S COADREAD 17 61723434 61723434 + Splice_Site SNP G G A TCGA-D5-6929-01A-31D-1924-10 TCGA-D5-6929-10A-01D-1924-10 g.chr17:61723434G>A c.167G>A c.(166-168)cGa>cAa p.R56Q COADREAD 17 61759156 61759156 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:61759156C>T c.533C>T c.(532-534)cCc>cTc p.P178L COADREAD 17 61762931 61762931 + Silent SNP T T C TCGA-A6-2676-01A-01W-0833-10 TCGA-A6-2676-10A-01W-0833-10 g.chr17:61762931T>C c.691T>C c.(691-693)Ttg>Ctg p.L231L COADREAD 17 61767716 61767716 + Missense_Mutation SNP C C T TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr17:61767716C>T c.1156C>T c.(1156-1158)Cgt>Tgt p.R386C COADREAD 17 61768521 61768521 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:61768521C>T c.1272C>T c.(1270-1272)atC>atT p.I424I COADREAD 17 61769665 61769665 + Missense_Mutation SNP G G A TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr17:61769665G>A c.1538G>A c.(1537-1539)cGc>cAc p.R513H COADREAD 17 61771045 61771045 + Missense_Mutation SNP C C T TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr17:61771045C>T c.1789C>T c.(1789-1791)Cgg>Tgg p.R597W COADREAD 17 61771046 61771046 + Missense_Mutation SNP G G A TCGA-AG-3587-01A-01W-0831-10 TCGA-AG-3587-10A-01W-0831-10 g.chr17:61771046G>A c.1790G>A c.(1789-1791)cGg>cAg p.R597Q COADREAD 17 61771046 61771046 + Missense_Mutation SNP G G T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr17:61771046G>T c.1790G>T c.(1789-1791)cGg>cTg p.R597L ESCA 17 61735181 61735181 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr17:61735181G>T c.295G>T c.(295-297)Gat>Tat p.D99Y ESCA 17 61744308 61744308 + Silent SNP C C A TCGA-XP-A8T7-01A-11D-A36J-09 TCGA-XP-A8T7-10A-01D-A36M-09 g.chr17:61744308C>A c.390C>A c.(388-390)tcC>tcA p.S130S GBMLGG 17 61765935 61765935 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr17:61765935C>T c.759C>T c.(757-759)gaC>gaT p.D253D GBMLGG 17 61768517 61768517 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61768517G>A c.1268G>A c.(1267-1269)cGc>cAc p.R423H GBMLGG 17 61770979 61770979 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61770979G>A c.1723G>A c.(1723-1725)Gcc>Acc p.A575T HNSC 17 61767679 61767679 + Silent SNP C C T TCGA-CN-A6V1-01A-12D-A34J-08 TCGA-CN-A6V1-10B-01D-A34M-08 g.chr17:61767679C>T c.1119C>T c.(1117-1119)ttC>ttT p.F373F HNSC 17 61769157 61769157 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:61769157C>T c.1409C>T c.(1408-1410)aCg>aTg p.T470M HNSC 17 61770959 61770959 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:61770959C>T c.1703C>T c.(1702-1704)gCa>gTa p.A568V KIPAN 17 61762880 61762880 + Silent SNP C C T TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr17:61762880C>T c.640C>T c.(640-642)Ctg>Ttg p.L214L KIPAN 17 61766161 61766161 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:61766161A>G c.791A>G c.(790-792)cAg>cGg p.Q264R KIPAN 17 61767096 61767096 + Splice_Site SNP G G A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr17:61767096G>A c.e11+1 KIPAN 17 61767721 61767721 + Missense_Mutation SNP A A C TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr17:61767721A>C c.1161A>C c.(1159-1161)gaA>gaC p.E387D KIRC 17 61762880 61762880 + Silent SNP C C T TCGA-B8-4153-01B-11D-1669-08 TCGA-B8-4153-11A-01D-1669-08 g.chr17:61762880C>T c.640C>T c.(640-642)Ctg>Ttg p.L214L KIRC 17 61766161 61766161 + Missense_Mutation SNP A A G TCGA-B0-5098-01A-01D-1421-08 TCGA-B0-5098-11A-01D-1421-08 g.chr17:61766161A>G c.791A>G c.(790-792)cAg>cGg p.Q264R KIRC 17 61767721 61767721 + Missense_Mutation SNP A A C TCGA-B4-5832-01A-11D-1669-08 TCGA-B4-5832-10A-01D-1669-08 g.chr17:61767721A>C c.1161A>C c.(1159-1161)gaA>gaC p.E387D KIRP 17 61767096 61767096 + Splice_Site SNP G G A TCGA-SX-A7SS-01A-11D-A35Z-10 TCGA-SX-A7SS-10A-01D-A35Z-10 g.chr17:61767096G>A c.e11+1 LGG 17 61765935 61765935 + Silent SNP C C T TCGA-FG-7643-01A-11D-2086-08 TCGA-FG-7643-10A-01D-2086-08 g.chr17:61765935C>T c.759C>T c.(757-759)gaC>gaT p.D253D LGG 17 61768517 61768517 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61768517G>A c.1268G>A c.(1267-1269)cGc>cAc p.R423H LGG 17 61770979 61770979 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:61770979G>A c.1723G>A c.(1723-1725)Gcc>Acc p.A575T LIHC 17 61768464 61768464 + Silent SNP G G A TCGA-CC-A7IG-01A-11D-A33K-10 TCGA-CC-A7IG-10A-01D-A33K-10 g.chr17:61768464G>A c.1215G>A c.(1213-1215)gaG>gaA p.E405E LIHC 17 61771085 61771085 + Missense_Mutation SNP G G A TCGA-DD-AADB-01A-11D-A40R-10 TCGA-DD-AADB-10A-01D-A40U-10 g.chr17:61771085G>A c.1829G>A c.(1828-1830)aGa>aAa p.R610K LUAD 17 61735166 61735166 + Missense_Mutation SNP C C G TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr17:61735166C>G c.280C>G c.(280-282)Ctg>Gtg p.L94V LUAD 17 61744319 61744319 + Missense_Mutation SNP C C G TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr17:61744319C>G c.401C>G c.(400-402)tCt>tGt p.S134C LUAD 17 61744398 61744398 + Silent SNP C C T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr17:61744398C>T c.480C>T c.(478-480)ccC>ccT p.P160P LUAD 17 61759152 61759152 + Missense_Mutation SNP C C T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr17:61759152C>T c.529C>T c.(529-531)Cct>Tct p.P177S LUAD 17 61766975 61766975 + Silent SNP C C T TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr17:61766975C>T c.943C>T c.(943-945)Ctg>Ttg p.L315L LUAD 17 61767648 61767648 + Missense_Mutation SNP G G T TCGA-05-4415-01A-22D-1855-08 TCGA-05-4415-10A-01D-1855-08 g.chr17:61767648G>T c.1088G>T c.(1087-1089)cGc>cTc p.R363L LUAD 17 61768535 61768535 + Missense_Mutation SNP G G T TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr17:61768535G>T c.1286G>T c.(1285-1287)gGc>gTc p.G429V LUAD 17 61768562 61768562 + Frame_Shift_Del DEL C C - TCGA-55-8087-01A-11D-2238-08 TCGA-55-8087-10A-01D-2238-08 g.chr17:61768562delC c.1313delC c.(1312-1314)accfs p.T438fs LUAD 17 61769133 61769133 + Missense_Mutation SNP C C A TCGA-86-7713-01A-11D-2063-08 TCGA-86-7713-10A-01D-2063-08 g.chr17:61769133C>A c.1385C>A c.(1384-1386)aCa>aAa p.T462K LUAD 17 61769181 61769181 + Frame_Shift_Del DEL C C - TCGA-44-8117-01A-11D-2238-08 TCGA-44-8117-10A-01D-2238-08 g.chr17:61769181delC c.1433delC c.(1432-1434)tccfs p.S478fs LUAD 17 61769652 61769652 + Frame_Shift_Del DEL G G - TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr17:61769652delG c.1525delG c.(1525-1527)gggfs p.G509fs LUAD 17 61769725 61769725 + Missense_Mutation SNP G G T TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr17:61769725G>T c.1598G>T c.(1597-1599)tGg>tTg p.W533L LUAD 17 61771008 61771008 + Silent SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr17:61771008C>T c.1752C>T c.(1750-1752)acC>acT p.T584T LUSC 17 61767648 61767648 + Missense_Mutation SNP G G T TCGA-66-2766-01A-01D-1522-08 TCGA-66-2766-11A-01D-1522-08 g.chr17:61767648G>T c.1088G>T c.(1087-1089)cGc>cTc p.R363L OV 17 61768495 61768495 + Missense_Mutation SNP C C A TCGA-36-1577-01A-01W-0615-10 TCGA-36-1577-10A-01W-0615-10 g.chr17:61768495C>A c.1246C>A c.(1246-1248)Cta>Ata p.L416I PRAD 17 61744336 61744336 + Missense_Mutation SNP G G T TCGA-J4-A83N-01A-11D-A34U-08 TCGA-J4-A83N-10A-01D-A34X-08 g.chr17:61744336G>T c.418G>T c.(418-420)Gtg>Ttg p.V140L PRAD 17 61769176 61769176 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:61769176C>T c.1428C>T c.(1426-1428)ggC>ggT p.G476G READ 17 61771046 61771046 + Missense_Mutation SNP G G A TCGA-AG-3587-01A-01W-0831-10 TCGA-AG-3587-10A-01W-0831-10 g.chr17:61771046G>A c.1790G>A c.(1789-1791)cGg>cAg p.R597Q READ 17 61771046 61771046 + Missense_Mutation SNP G G T TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr17:61771046G>T c.1790G>T c.(1789-1791)cGg>cTg p.R597L SKCM 17 61723433 61723433 + Splice_Site SNP C C G TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr17:61723433C>G c.166C>G c.(166-168)Cga>Gga p.R56G SKCM 17 61730009 61730009 + Missense_Mutation SNP A A G TCGA-D3-A1Q4-06A-11D-A196-08 TCGA-D3-A1Q4-10A-01D-A198-08 g.chr17:61730009A>G c.260A>G c.(259-261)aAc>aGc p.N87S SKCM 17 61735251 61735251 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:61735251C>T c.365C>T c.(364-366)tCc>tTc p.S122F SKCM 17 61744305 61744305 + Silent SNP T T C TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr17:61744305T>C c.387T>C c.(385-387)agT>agC p.S129S SKCM 17 61744314 61744314 + Silent SNP C C T TCGA-ER-A19C-06A-11D-A196-08 TCGA-ER-A19C-10A-01D-A198-08 g.chr17:61744314C>T c.396C>T c.(394-396)ccC>ccT p.P132P SKCM 17 61759136 61759136 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr17:61759136C>T c.513C>T c.(511-513)aaC>aaT p.N171N SKCM 17 61759137 61759137 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr17:61759137C>T c.514C>T c.(514-516)Cct>Tct p.P172S SKCM 17 61766961 61766961 + Missense_Mutation SNP C C T TCGA-EB-A5UN-06A-11D-A30X-08 TCGA-EB-A5UN-10A-01D-A30X-08 g.chr17:61766961C>T c.929C>T c.(928-930)cCc>cTc p.P310L SKCM 17 61766969 61766969 + Missense_Mutation SNP C C G TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr17:61766969C>G c.937C>G c.(937-939)Cgc>Ggc p.R313G SKCM 17 61768530 61768530 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr17:61768530C>T c.1281C>T c.(1279-1281)taC>taT p.Y427Y SKCM 17 61769192 61769192 + Missense_Mutation SNP A A T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:61769192A>T c.1444A>T c.(1444-1446)Agc>Tgc p.S482C SKCM 17 61770952 61770952 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr17:61770952C>T c.1696C>T c.(1696-1698)Ccg>Tcg p.P566S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 17 61710130 61710130 single base substitution A G exon_variant BLCA-CN 17 61710130 61710130 single base substitution A G missense_variant K32E 94A>G BLCA-CN 17 61723400 61723400 single base substitution G A exon_variant BLCA-CN 17 61723400 61723400 single base substitution G A missense_variant V45I 133G>A BLCA-CN 17 61723400 61723400 single base substitution G A missense_variant V76I 226G>A BLCA-US 17 61767079 61767079 single base substitution G A 3_prime_UTR_variant BLCA-US 17 61767079 61767079 single base substitution G A downstream_gene_variant BLCA-US 17 61767079 61767079 single base substitution G A exon_variant BLCA-US 17 61767079 61767079 single base substitution G A synonymous_variant R345R 1035G>A BLCA-US 17 61767079 61767079 single base substitution G A synonymous_variant R349R 1047G>A BLCA-US 17 61767079 61767079 single base substitution G A synonymous_variant R376R 1128G>A BLCA-US 17 61767079 61767079 single base substitution G A synonymous_variant R380R 1140G>A BLCA-US 17 61767079 61767079 single base substitution G A upstream_gene_variant BLCA-US 17 61768566 61768566 single base substitution G C 3_prime_UTR_variant BLCA-US 17 61768566 61768566 single base substitution G C downstream_gene_variant BLCA-US 17 61768566 61768566 single base substitution G C synonymous_variant L435L 1305G>C BLCA-US 17 61768566 61768566 single base substitution G C synonymous_variant L439L 1317G>C BLCA-US 17 61768566 61768566 single base substitution G C synonymous_variant L466L 1398G>C BLCA-US 17 61768566 61768566 single base substitution G C synonymous_variant L470L 1410G>C BRCA-EU 17 61695823 61695823 single base substitution T C upstream_gene_variant BRCA-EU 17 61696109 61696109 single base substitution G T upstream_gene_variant BRCA-EU 17 61697019 61697019 single base substitution C T upstream_gene_variant BRCA-EU 17 61698785 61698785 single base substitution G C upstream_gene_variant BRCA-EU 17 61698814 61698814 single base substitution C T upstream_gene_variant BRCA-EU 17 61698986 61698990 deletion of <=200bp GACAG - upstream_gene_variant BRCA-EU 17 61699262 61699262 single base substitution G A upstream_gene_variant BRCA-EU 17 61701631 61701631 single base substitution C T intron_variant BRCA-EU 17 61701995 61701995 single base substitution G A intron_variant BRCA-EU 17 61704300 61704300 single base substitution G C intron_variant BRCA-EU 17 61705750 61705750 single base substitution C A intron_variant BRCA-EU 17 61706306 61706306 single base substitution A G intron_variant BRCA-EU 17 61710543 61710543 single base substitution G C intron_variant BRCA-EU 17 61711275 61711275 single base substitution G A intron_variant BRCA-EU 17 61712352 61712352 single base substitution C T intron_variant BRCA-EU 17 61714493 61714493 single base substitution G C intron_variant BRCA-EU 17 61714549 61714549 single base substitution A T intron_variant BRCA-EU 17 61714759 61714759 single base substitution G A intron_variant BRCA-EU 17 61715234 61715234 single base substitution G A intron_variant BRCA-EU 17 61715553 61715553 single base substitution T C intron_variant BRCA-EU 17 61716937 61716937 single base substitution C T intron_variant BRCA-EU 17 61716973 61716973 single base substitution C T intron_variant BRCA-EU 17 61717090 61717090 deletion of <=200bp A - intron_variant BRCA-EU 17 61720042 61720042 single base substitution G A intron_variant BRCA-EU 17 61720412 61720412 single base substitution C G intron_variant BRCA-EU 17 61720874 61720874 single base substitution T C intron_variant BRCA-EU 17 61721323 61721323 single base substitution C G intron_variant BRCA-EU 17 61721435 61721435 single base substitution G T intron_variant BRCA-EU 17 61722165 61722165 single base substitution C A intron_variant BRCA-EU 17 61722166 61722166 single base substitution C A intron_variant BRCA-EU 17 61722654 61722654 single base substitution C A intron_variant BRCA-EU 17 61724034 61724034 single base substitution C G intron_variant BRCA-EU 17 61725472 61725472 single base substitution C T intron_variant BRCA-EU 17 61725474 61725474 single base substitution C G intron_variant BRCA-EU 17 61725704 61725704 single base substitution G A intron_variant BRCA-EU 17 61727508 61727508 single base substitution C G intron_variant BRCA-EU 17 61727514 61727514 single base substitution T G intron_variant BRCA-EU 17 61727690 61727690 single base substitution C G intron_variant BRCA-EU 17 61729766 61729766 deletion of <=200bp A - intron_variant BRCA-EU 17 61729950 61729950 single base substitution A C 3_prime_UTR_variant BRCA-EU 17 61729950 61729950 single base substitution A C missense_variant E67D 201A>C BRCA-EU 17 61729950 61729950 single base substitution A C missense_variant E98D 294A>C BRCA-EU 17 61730413 61730413 single base substitution C A intron_variant BRCA-EU 17 61731555 61731555 single base substitution A T intron_variant BRCA-EU 17 61734751 61734751 single base substitution G A intron_variant BRCA-EU 17 61737210 61737210 single base substitution C T intron_variant BRCA-EU 17 61737999 61737999 single base substitution C T intron_variant BRCA-EU 17 61738037 61738037 single base substitution C G intron_variant BRCA-EU 17 61738209 61738209 single base substitution G C intron_variant BRCA-EU 17 61738387 61738387 single base substitution T A intron_variant BRCA-EU 17 61740312 61740312 single base substitution G T intron_variant BRCA-EU 17 61740312 61740312 single base substitution G T upstream_gene_variant BRCA-EU 17 61742158 61742158 single base substitution C T intron_variant BRCA-EU 17 61742158 61742158 single base substitution C T upstream_gene_variant BRCA-EU 17 61742960 61742960 single base substitution C T intron_variant BRCA-EU 17 61742960 61742960 single base substitution C T upstream_gene_variant BRCA-EU 17 61743835 61743835 single base substitution C G intron_variant BRCA-EU 17 61743835 61743835 single base substitution C G upstream_gene_variant BRCA-EU 17 61746781 61746781 single base substitution G T intron_variant BRCA-EU 17 61747566 61747566 single base substitution G C intron_variant BRCA-EU 17 61748271 61748271 single base substitution A C intron_variant BRCA-EU 17 61749305 61749305 single base substitution G C intron_variant BRCA-EU 17 61749474 61749474 single base substitution C G intron_variant BRCA-EU 17 61749708 61749708 single base substitution A G intron_variant BRCA-EU 17 61749958 61749958 single base substitution C G intron_variant BRCA-EU 17 61753116 61753116 single base substitution A G intron_variant BRCA-EU 17 61753512 61753512 single base substitution C A intron_variant BRCA-EU 17 61754423 61754423 single base substitution C T intron_variant BRCA-EU 17 61756520 61756520 single base substitution G C intron_variant BRCA-EU 17 61758323 61758323 single base substitution T A intron_variant BRCA-EU 17 61759519 61759519 single base substitution C G intron_variant BRCA-EU 17 61762895 61762895 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 61762895 61762895 single base substitution A G missense_variant S219G 655A>G BRCA-EU 17 61762895 61762895 single base substitution A G missense_variant S250G 748A>G BRCA-EU 17 61762895 61762895 single base substitution A G upstream_gene_variant BRCA-EU 17 61763180 61763180 single base substitution C T intron_variant BRCA-EU 17 61763180 61763180 single base substitution C T upstream_gene_variant BRCA-EU 17 61763317 61763317 single base substitution T G intron_variant BRCA-EU 17 61763317 61763317 single base substitution T G upstream_gene_variant BRCA-EU 17 61764601 61764601 single base substitution C T intron_variant BRCA-EU 17 61764601 61764601 single base substitution C T upstream_gene_variant BRCA-EU 17 61766901 61766901 single base substitution C G downstream_gene_variant BRCA-EU 17 61766901 61766901 single base substitution C G exon_variant BRCA-EU 17 61766901 61766901 single base substitution C G intron_variant BRCA-EU 17 61766901 61766901 single base substitution C G splice_region_variant BRCA-EU 17 61766901 61766901 single base substitution C G upstream_gene_variant BRCA-EU 17 61767281 61767281 single base substitution C G downstream_gene_variant BRCA-EU 17 61767281 61767281 single base substitution C G exon_variant BRCA-EU 17 61767281 61767281 single base substitution C G intron_variant BRCA-EU 17 61767281 61767281 single base substitution C G upstream_gene_variant BRCA-EU 17 61768635 61768635 single base substitution G A downstream_gene_variant BRCA-EU 17 61768635 61768635 single base substitution G A intron_variant BRCA-EU 17 61769973 61769973 single base substitution G C downstream_gene_variant BRCA-EU 17 61769973 61769973 single base substitution G C intron_variant BRCA-EU 17 61771351 61771351 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 61771351 61771351 single base substitution C G downstream_gene_variant BRCA-EU 17 61772904 61772904 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 61772904 61772904 single base substitution C T downstream_gene_variant BRCA-EU 17 61772937 61772937 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 61772937 61772937 single base substitution C G downstream_gene_variant BRCA-EU 17 61773136 61773136 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 61773136 61773136 single base substitution A G downstream_gene_variant BRCA-EU 17 61773250 61773250 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 61773250 61773250 single base substitution C T downstream_gene_variant BRCA-EU 17 61775070 61775070 single base substitution C G downstream_gene_variant BRCA-EU 17 61775331 61775331 single base substitution C T downstream_gene_variant BRCA-EU 17 61775426 61775426 single base substitution G A downstream_gene_variant BRCA-EU 17 61778198 61778198 single base substitution C T downstream_gene_variant BRCA-EU 17 61778518 61778518 single base substitution G C downstream_gene_variant BRCA-FR 17 61708832 61708832 single base substitution G T intron_variant BRCA-FR 17 61725474 61725474 single base substitution C G intron_variant BRCA-FR 17 61727508 61727508 single base substitution C G intron_variant BRCA-FR 17 61727690 61727690 single base substitution C G intron_variant BRCA-FR 17 61730413 61730413 single base substitution C A intron_variant BRCA-FR 17 61742158 61742158 single base substitution C T intron_variant BRCA-FR 17 61742158 61742158 single base substitution C T upstream_gene_variant BRCA-FR 17 61742564 61742564 single base substitution C T intron_variant BRCA-FR 17 61742564 61742564 single base substitution C T upstream_gene_variant BRCA-FR 17 61743835 61743835 single base substitution C G intron_variant BRCA-FR 17 61743835 61743835 single base substitution C G upstream_gene_variant BRCA-FR 17 61746781 61746781 single base substitution G T intron_variant BRCA-FR 17 61747566 61747566 single base substitution G C intron_variant BRCA-FR 17 61749305 61749305 single base substitution G C intron_variant BRCA-FR 17 61749708 61749708 single base substitution A G intron_variant BRCA-FR 17 61758092 61758092 single base substitution G A intron_variant BRCA-FR 17 61759519 61759519 single base substitution C G intron_variant BRCA-FR 17 61767281 61767281 single base substitution C G downstream_gene_variant BRCA-FR 17 61767281 61767281 single base substitution C G exon_variant BRCA-FR 17 61767281 61767281 single base substitution C G intron_variant BRCA-FR 17 61767281 61767281 single base substitution C G upstream_gene_variant BRCA-FR 17 61768188 61768188 single base substitution C G downstream_gene_variant BRCA-FR 17 61768188 61768188 single base substitution C G intron_variant BRCA-FR 17 61773136 61773136 single base substitution A G 3_prime_UTR_variant BRCA-FR 17 61773136 61773136 single base substitution A G downstream_gene_variant BRCA-FR 17 61773250 61773250 single base substitution C T 3_prime_UTR_variant BRCA-FR 17 61773250 61773250 single base substitution C T downstream_gene_variant BRCA-FR 17 61774572 61774572 single base substitution C T downstream_gene_variant BRCA-UK 17 61698814 61698814 single base substitution C T upstream_gene_variant BRCA-UK 17 61700185 61700185 single base substitution G C intron_variant BRCA-UK 17 61715234 61715234 single base substitution G A intron_variant BRCA-UK 17 61720874 61720874 single base substitution T C intron_variant BRCA-UK 17 61731555 61731555 single base substitution A T intron_variant BRCA-UK 17 61737999 61737999 single base substitution C T intron_variant BRCA-UK 17 61745458 61745458 single base substitution G C intron_variant BRCA-UK 17 61768635 61768635 single base substitution G A downstream_gene_variant BRCA-UK 17 61768635 61768635 single base substitution G A intron_variant BRCA-UK 17 61777552 61777552 single base substitution G A downstream_gene_variant BRCA-US 17 61771096 61771096 single base substitution G C 3_prime_UTR_variant BRCA-US 17 61771096 61771096 single base substitution G C downstream_gene_variant BRCA-US 17 61771096 61771096 single base substitution G C missense_variant E610Q 1828G>C BRCA-US 17 61771096 61771096 single base substitution G C missense_variant E614Q 1840G>C BRCA-US 17 61771096 61771096 single base substitution G C missense_variant E641Q 1921G>C BRCA-US 17 61771096 61771096 single base substitution G C missense_variant E645Q 1933G>C BTCA-JP 17 61762790 61762790 single base substitution C A intron_variant BTCA-JP 17 61762790 61762790 single base substitution C A upstream_gene_variant BTCA-JP 17 61770908 61770908 single base substitution G C downstream_gene_variant BTCA-JP 17 61770908 61770908 single base substitution G C splice_acceptor_variant BTCA-JP 17 61776084 61776084 single base substitution A G downstream_gene_variant CESC-US 17 61771015 61771015 single base substitution C A 3_prime_UTR_variant CESC-US 17 61771015 61771015 single base substitution C A downstream_gene_variant CESC-US 17 61771015 61771015 single base substitution C A missense_variant Q583K 1747C>A CESC-US 17 61771015 61771015 single base substitution C A missense_variant Q587K 1759C>A CESC-US 17 61771015 61771015 single base substitution C A missense_variant Q614K 1840C>A CESC-US 17 61771015 61771015 single base substitution C A missense_variant Q618K 1852C>A CLLE-ES 17 61697779 61697779 single base substitution C G upstream_gene_variant CLLE-ES 17 61701609 61701609 single base substitution T C intron_variant CLLE-ES 17 61703497 61703497 single base substitution T C intron_variant CLLE-ES 17 61714730 61714730 single base substitution A T intron_variant CLLE-ES 17 61725685 61725685 single base substitution A T intron_variant CLLE-ES 17 61728699 61728699 single base substitution G A intron_variant COAD-US 17 61723434 61723434 single base substitution G A missense_variant R56Q 167G>A COAD-US 17 61723434 61723434 single base substitution G A missense_variant R87Q 260G>A COAD-US 17 61723434 61723434 single base substitution G A splice_region_variant COAD-US 17 61744359 61744359 single base substitution C T 3_prime_UTR_variant COAD-US 17 61744359 61744359 single base substitution C T exon_variant COAD-US 17 61744359 61744359 single base substitution C T synonymous_variant S147S 441C>T COAD-US 17 61744359 61744359 single base substitution C T synonymous_variant S178S 534C>T COAD-US 17 61759156 61759156 single base substitution C T 3_prime_UTR_variant COAD-US 17 61759156 61759156 single base substitution C T missense_variant P178L 533C>T COAD-US 17 61759156 61759156 single base substitution C T missense_variant P209L 626C>T COAD-US 17 61767716 61767716 single base substitution C T 3_prime_UTR_variant COAD-US 17 61767716 61767716 single base substitution C T downstream_gene_variant COAD-US 17 61767716 61767716 single base substitution C T exon_variant COAD-US 17 61767716 61767716 single base substitution C T missense_variant R382C 1144C>T COAD-US 17 61767716 61767716 single base substitution C T missense_variant R386C 1156C>T COAD-US 17 61767716 61767716 single base substitution C T missense_variant R413C 1237C>T COAD-US 17 61767716 61767716 single base substitution C T missense_variant R417C 1249C>T COAD-US 17 61776005 61776005 single base substitution C T downstream_gene_variant COCA-CN 17 61729926 61729926 single base substitution G A 3_prime_UTR_variant COCA-CN 17 61729926 61729926 single base substitution G A synonymous_variant A59A 177G>A COCA-CN 17 61729926 61729926 single base substitution G A synonymous_variant A90A 270G>A COCA-CN 17 61735256 61735256 single base substitution G A 3_prime_UTR_variant COCA-CN 17 61735256 61735256 single base substitution G A missense_variant D124N 370G>A COCA-CN 17 61735256 61735256 single base substitution G A missense_variant D155N 463G>A COCA-CN 17 61744409 61744409 single base substitution A C 3_prime_UTR_variant COCA-CN 17 61744409 61744409 single base substitution A C exon_variant COCA-CN 17 61744409 61744409 single base substitution A C missense_variant H164P 491A>C COCA-CN 17 61744409 61744409 single base substitution A C missense_variant H195P 584A>C COCA-CN 17 61766203 61766203 single base substitution G A 3_prime_UTR_variant COCA-CN 17 61766203 61766203 single base substitution G A exon_variant COCA-CN 17 61766203 61766203 single base substitution G A missense_variant R274H 821G>A COCA-CN 17 61766203 61766203 single base substitution G A missense_variant R278H 833G>A COCA-CN 17 61766203 61766203 single base substitution G A missense_variant R305H 914G>A COCA-CN 17 61766203 61766203 single base substitution G A missense_variant R309H 926G>A COCA-CN 17 61766203 61766203 single base substitution G A upstream_gene_variant COCA-CN 17 61766937 61766937 single base substitution A G 3_prime_UTR_variant COCA-CN 17 61766937 61766937 single base substitution A G downstream_gene_variant COCA-CN 17 61766937 61766937 single base substitution A G exon_variant COCA-CN 17 61766937 61766937 single base substitution A G missense_variant Q298R 893A>G COCA-CN 17 61766937 61766937 single base substitution A G missense_variant Q302R 905A>G COCA-CN 17 61766937 61766937 single base substitution A G missense_variant Q329R 986A>G COCA-CN 17 61766937 61766937 single base substitution A G missense_variant Q333R 998A>G COCA-CN 17 61766937 61766937 single base substitution A G upstream_gene_variant COCA-CN 17 61768709 61768709 single base substitution G A downstream_gene_variant COCA-CN 17 61768709 61768709 single base substitution G A intron_variant COCA-CN 17 61769617 61769617 single base substitution G A 3_prime_UTR_variant COCA-CN 17 61769617 61769617 single base substitution G A downstream_gene_variant COCA-CN 17 61769617 61769617 single base substitution G A missense_variant R493Q 1478G>A COCA-CN 17 61769617 61769617 single base substitution G A missense_variant R497Q 1490G>A COCA-CN 17 61769617 61769617 single base substitution G A missense_variant R524Q 1571G>A COCA-CN 17 61769617 61769617 single base substitution G A missense_variant R528Q 1583G>A COCA-CN 17 61770931 61770931 single base substitution G A 3_prime_UTR_variant COCA-CN 17 61770931 61770931 single base substitution G A downstream_gene_variant COCA-CN 17 61770931 61770931 single base substitution G A missense_variant E555K 1663G>A COCA-CN 17 61770931 61770931 single base substitution G A missense_variant E559K 1675G>A COCA-CN 17 61770931 61770931 single base substitution G A missense_variant E586K 1756G>A COCA-CN 17 61770931 61770931 single base substitution G A missense_variant E590K 1768G>A COCA-CN 17 61771160 61771160 single base substitution C T 3_prime_UTR_variant COCA-CN 17 61771160 61771160 single base substitution C T downstream_gene_variant COCA-CN 17 61776272 61776272 single base substitution C T downstream_gene_variant EOPC-DE 17 61699691 61699691 single base substitution T G upstream_gene_variant ESAD-UK 17 61695493 61695493 single base substitution A T upstream_gene_variant ESAD-UK 17 61695766 61695766 single base substitution A G upstream_gene_variant ESAD-UK 17 61696344 61696344 deletion of <=200bp T - upstream_gene_variant ESAD-UK 17 61697011 61697011 single base substitution G T upstream_gene_variant ESAD-UK 17 61699271 61699271 single base substitution G A upstream_gene_variant ESAD-UK 17 61699318 61699318 single base substitution G C upstream_gene_variant ESAD-UK 17 61702802 61702802 single base substitution G A intron_variant ESAD-UK 17 61704998 61704998 single base substitution C T intron_variant ESAD-UK 17 61705264 61705264 single base substitution A G intron_variant ESAD-UK 17 61705605 61705605 single base substitution T G intron_variant ESAD-UK 17 61707392 61707392 single base substitution A T intron_variant ESAD-UK 17 61707720 61707720 single base substitution C G intron_variant ESAD-UK 17 61708096 61708096 single base substitution T C intron_variant ESAD-UK 17 61710042 61710042 single base substitution C T splice_region_variant ESAD-UK 17 61710899 61710899 single base substitution G A intron_variant ESAD-UK 17 61711269 61711269 single base substitution G C intron_variant ESAD-UK 17 61713490 61713490 single base substitution C T intron_variant ESAD-UK 17 61714336 61714336 single base substitution G A intron_variant ESAD-UK 17 61718789 61718789 single base substitution G A intron_variant ESAD-UK 17 61720670 61720670 single base substitution G A intron_variant ESAD-UK 17 61722307 61722307 single base substitution C A intron_variant ESAD-UK 17 61726616 61726616 single base substitution G A intron_variant ESAD-UK 17 61727360 61727360 single base substitution C T intron_variant ESAD-UK 17 61727443 61727443 single base substitution T G intron_variant ESAD-UK 17 61729154 61729154 single base substitution T G intron_variant ESAD-UK 17 61730605 61730605 single base substitution G T intron_variant ESAD-UK 17 61732170 61732170 single base substitution G A intron_variant ESAD-UK 17 61733837 61733837 single base substitution C T intron_variant ESAD-UK 17 61734894 61734894 single base substitution G T intron_variant ESAD-UK 17 61737575 61737575 single base substitution T G intron_variant ESAD-UK 17 61738604 61738604 single base substitution G A intron_variant ESAD-UK 17 61738923 61738923 single base substitution C A intron_variant ESAD-UK 17 61740350 61740350 single base substitution T C intron_variant ESAD-UK 17 61740350 61740350 single base substitution T C upstream_gene_variant ESAD-UK 17 61744991 61744991 single base substitution C T intron_variant ESAD-UK 17 61746749 61746749 single base substitution T C intron_variant ESAD-UK 17 61748708 61748708 single base substitution C T intron_variant ESAD-UK 17 61749326 61749326 single base substitution A G intron_variant ESAD-UK 17 61750934 61750934 single base substitution T C intron_variant ESAD-UK 17 61752254 61752254 single base substitution G T intron_variant ESAD-UK 17 61752405 61752405 single base substitution A G intron_variant ESAD-UK 17 61752409 61752409 deletion of <=200bp T - intron_variant ESAD-UK 17 61754890 61754890 single base substitution G A intron_variant ESAD-UK 17 61759127 61759127 single base substitution C A missense_variant S168R 504C>A ESAD-UK 17 61759127 61759127 single base substitution C A missense_variant S199R 597C>A ESAD-UK 17 61759127 61759127 single base substitution C A splice_region_variant ESAD-UK 17 61759729 61759729 single base substitution T C intron_variant ESAD-UK 17 61760660 61760660 single base substitution C G intron_variant ESAD-UK 17 61760660 61760660 single base substitution C G upstream_gene_variant ESAD-UK 17 61761898 61761898 single base substitution G T intron_variant ESAD-UK 17 61761898 61761898 single base substitution G T upstream_gene_variant ESAD-UK 17 61762009 61762009 single base substitution A T intron_variant ESAD-UK 17 61762009 61762009 single base substitution A T upstream_gene_variant ESAD-UK 17 61762142 61762142 single base substitution A T intron_variant ESAD-UK 17 61762142 61762142 single base substitution A T upstream_gene_variant ESAD-UK 17 61764093 61764093 single base substitution C T intron_variant ESAD-UK 17 61764093 61764093 single base substitution C T upstream_gene_variant ESAD-UK 17 61765346 61765346 single base substitution C T intron_variant ESAD-UK 17 61765346 61765346 single base substitution C T upstream_gene_variant ESAD-UK 17 61765456 61765456 single base substitution C T intron_variant ESAD-UK 17 61765456 61765456 single base substitution C T upstream_gene_variant ESAD-UK 17 61769267 61769267 single base substitution A G downstream_gene_variant ESAD-UK 17 61769267 61769267 single base substitution A G intron_variant ESAD-UK 17 61769686 61769686 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 61769686 61769686 single base substitution C T downstream_gene_variant ESAD-UK 17 61769686 61769686 single base substitution C T missense_variant S516L 1547C>T ESAD-UK 17 61769686 61769686 single base substitution C T missense_variant S520L 1559C>T ESAD-UK 17 61769686 61769686 single base substitution C T missense_variant S547L 1640C>T ESAD-UK 17 61769686 61769686 single base substitution C T missense_variant S551L 1652C>T ESAD-UK 17 61774285 61774285 single base substitution G A downstream_gene_variant ESAD-UK 17 61774466 61774466 single base substitution G A downstream_gene_variant ESAD-UK 17 61774633 61774633 single base substitution G A downstream_gene_variant ESAD-UK 17 61775173 61775173 single base substitution A T downstream_gene_variant ESAD-UK 17 61775283 61775283 single base substitution C T downstream_gene_variant ESAD-UK 17 61775973 61775973 single base substitution C T downstream_gene_variant ESCA-CN 17 61710135 61710135 single base substitution C A exon_variant ESCA-CN 17 61710135 61710135 single base substitution C A missense_variant N33K 99C>A ESCA-CN 17 61723444 61723444 single base substitution C G intron_variant ESCA-CN 17 61772449 61772449 single base substitution G A 3_prime_UTR_variant ESCA-CN 17 61772449 61772449 single base substitution G A downstream_gene_variant ESCA-CN 17 61776016 61776016 single base substitution G A downstream_gene_variant KIRC-US 17 61762880 61762880 single base substitution C T 3_prime_UTR_variant KIRC-US 17 61762880 61762880 single base substitution C T synonymous_variant L214L 640C>T KIRC-US 17 61762880 61762880 single base substitution C T synonymous_variant L245L 733C>T KIRC-US 17 61762880 61762880 single base substitution C T upstream_gene_variant LAML-KR 17 61696791 61696791 single base substitution G T upstream_gene_variant LAML-KR 17 61699678 61699678 single base substitution A G upstream_gene_variant LAML-KR 17 61705738 61705738 single base substitution G T intron_variant LAML-KR 17 61714283 61714283 single base substitution G A intron_variant LAML-KR 17 61715824 61715824 single base substitution G T intron_variant LGG-US 17 61765935 61765935 single base substitution C T 3_prime_UTR_variant LGG-US 17 61765935 61765935 single base substitution C T exon_variant LGG-US 17 61765935 61765935 single base substitution C T synonymous_variant D249D 747C>T LGG-US 17 61765935 61765935 single base substitution C T synonymous_variant D253D 759C>T LGG-US 17 61765935 61765935 single base substitution C T synonymous_variant D280D 840C>T LGG-US 17 61765935 61765935 single base substitution C T synonymous_variant D284D 852C>T LGG-US 17 61765935 61765935 single base substitution C T upstream_gene_variant LICA-FR 17 61707780 61707780 single base substitution T A intron_variant LICA-FR 17 61741634 61741634 single base substitution C T intron_variant LICA-FR 17 61741634 61741634 single base substitution C T upstream_gene_variant LICA-FR 17 61762933 61762933 single base substitution G A 3_prime_UTR_variant LICA-FR 17 61762933 61762933 single base substitution G A synonymous_variant L231L 693G>A LICA-FR 17 61762933 61762933 single base substitution G A synonymous_variant L262L 786G>A LICA-FR 17 61762933 61762933 single base substitution G A upstream_gene_variant LICA-FR 17 61765166 61765166 single base substitution C A intron_variant LICA-FR 17 61765166 61765166 single base substitution C A upstream_gene_variant LICA-FR 17 61767623 61767623 single base substitution G A downstream_gene_variant LICA-FR 17 61767623 61767623 single base substitution G A splice_acceptor_variant LICA-FR 17 61767623 61767623 single base substitution G A upstream_gene_variant LICA-FR 17 61776280 61776280 deletion of <=200bp G - downstream_gene_variant LIHC-US 17 61768464 61768464 single base substitution G A 3_prime_UTR_variant LIHC-US 17 61768464 61768464 single base substitution G A downstream_gene_variant LIHC-US 17 61768464 61768464 single base substitution G A splice_region_variant LINC-JP 17 61696332 61696332 single base substitution A G upstream_gene_variant LINC-JP 17 61700099 61700099 single base substitution A G 5_prime_UTR_variant LINC-JP 17 61705761 61705761 single base substitution C G intron_variant LINC-JP 17 61714553 61714553 deletion of <=200bp A - intron_variant LINC-JP 17 61731767 61731767 single base substitution T C intron_variant LINC-JP 17 61738534 61738534 single base substitution G A intron_variant LINC-JP 17 61746420 61746420 single base substitution A G intron_variant LINC-JP 17 61757541 61757541 single base substitution T C intron_variant LINC-JP 17 61759275 61759275 single base substitution C T intron_variant LINC-JP 17 61776387 61776387 single base substitution C T downstream_gene_variant LINC-JP 17 61776485 61776485 single base substitution C A downstream_gene_variant LIRI-JP 17 61702693 61702693 single base substitution A G intron_variant LIRI-JP 17 61704987 61704987 single base substitution A T intron_variant LIRI-JP 17 61706461 61706461 single base substitution G A intron_variant LIRI-JP 17 61706728 61706728 single base substitution A G intron_variant LIRI-JP 17 61706880 61706880 single base substitution A G intron_variant LIRI-JP 17 61707035 61707035 single base substitution C T intron_variant LIRI-JP 17 61707734 61707734 single base substitution C A intron_variant LIRI-JP 17 61709340 61709340 single base substitution T C intron_variant LIRI-JP 17 61709568 61709568 single base substitution C T intron_variant LIRI-JP 17 61710108 61710108 single base substitution G T exon_variant LIRI-JP 17 61710108 61710108 single base substitution G T synonymous_variant R24R 72G>T LIRI-JP 17 61715256 61715256 single base substitution A G intron_variant LIRI-JP 17 61716479 61716479 single base substitution T C intron_variant LIRI-JP 17 61720487 61720487 single base substitution A G intron_variant LIRI-JP 17 61724040 61724057 deletion of <=200bp TTTTCTCCATTGTCAGTA - intron_variant LIRI-JP 17 61727806 61727806 single base substitution G A intron_variant LIRI-JP 17 61728372 61728372 single base substitution G T intron_variant LIRI-JP 17 61728624 61728624 single base substitution G A intron_variant LIRI-JP 17 61732538 61732538 single base substitution G T intron_variant LIRI-JP 17 61735961 61735961 single base substitution C T intron_variant LIRI-JP 17 61739692 61739692 single base substitution C T intron_variant LIRI-JP 17 61739692 61739692 single base substitution C T upstream_gene_variant LIRI-JP 17 61740294 61740294 single base substitution C G intron_variant LIRI-JP 17 61740294 61740294 single base substitution C G upstream_gene_variant LIRI-JP 17 61742288 61742288 single base substitution T C intron_variant LIRI-JP 17 61742288 61742288 single base substitution T C upstream_gene_variant LIRI-JP 17 61743098 61743098 single base substitution C A intron_variant LIRI-JP 17 61743098 61743098 single base substitution C A upstream_gene_variant LIRI-JP 17 61743655 61743655 single base substitution A G intron_variant LIRI-JP 17 61743655 61743655 single base substitution A G upstream_gene_variant LIRI-JP 17 61744447 61744447 single base substitution C G intron_variant LIRI-JP 17 61746824 61746824 single base substitution T C intron_variant LIRI-JP 17 61746900 61746900 single base substitution C A intron_variant LIRI-JP 17 61747535 61747535 single base substitution C T intron_variant LIRI-JP 17 61748247 61748247 single base substitution C A intron_variant LIRI-JP 17 61753176 61753176 single base substitution A G intron_variant LIRI-JP 17 61755580 61755580 single base substitution G A intron_variant LIRI-JP 17 61756064 61756064 single base substitution T A intron_variant LIRI-JP 17 61757473 61757473 single base substitution A T intron_variant LIRI-JP 17 61757667 61757667 single base substitution C T intron_variant LIRI-JP 17 61760619 61760619 single base substitution T A intron_variant LIRI-JP 17 61760619 61760619 single base substitution T A upstream_gene_variant LIRI-JP 17 61760913 61760913 single base substitution C T intron_variant LIRI-JP 17 61760913 61760913 single base substitution C T upstream_gene_variant LIRI-JP 17 61765190 61765190 single base substitution C T intron_variant LIRI-JP 17 61765190 61765190 single base substitution C T upstream_gene_variant LIRI-JP 17 61765191 61765191 single base substitution G T intron_variant LIRI-JP 17 61765191 61765191 single base substitution G T upstream_gene_variant LIRI-JP 17 61769287 61769287 single base substitution C T downstream_gene_variant LIRI-JP 17 61769287 61769287 single base substitution C T intron_variant LIRI-JP 17 61773169 61773169 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 61773169 61773169 single base substitution A G downstream_gene_variant LIRI-JP 17 61773800 61773800 single base substitution G T downstream_gene_variant LUSC-KR 17 61695840 61695840 single base substitution A T upstream_gene_variant LUSC-KR 17 61699548 61699548 single base substitution T A upstream_gene_variant LUSC-KR 17 61703224 61703224 single base substitution G C intron_variant LUSC-KR 17 61706361 61706361 single base substitution C A intron_variant LUSC-KR 17 61722565 61722565 single base substitution A G intron_variant LUSC-KR 17 61722668 61722668 single base substitution A T intron_variant LUSC-KR 17 61732495 61732495 single base substitution A C intron_variant LUSC-KR 17 61736112 61736112 single base substitution G T intron_variant LUSC-KR 17 61739340 61739340 single base substitution G T intron_variant LUSC-KR 17 61741362 61741362 single base substitution G A intron_variant LUSC-KR 17 61741362 61741362 single base substitution G A upstream_gene_variant LUSC-KR 17 61743615 61743615 single base substitution G A intron_variant LUSC-KR 17 61743615 61743615 single base substitution G A upstream_gene_variant LUSC-KR 17 61748765 61748765 single base substitution G A intron_variant LUSC-KR 17 61766746 61766746 single base substitution G C downstream_gene_variant LUSC-KR 17 61766746 61766746 single base substitution G C exon_variant LUSC-KR 17 61766746 61766746 single base substitution G C intron_variant LUSC-KR 17 61766746 61766746 single base substitution G C upstream_gene_variant LUSC-KR 17 61766864 61766864 single base substitution G C downstream_gene_variant LUSC-KR 17 61766864 61766864 single base substitution G C exon_variant LUSC-KR 17 61766864 61766864 single base substitution G C intron_variant LUSC-KR 17 61766864 61766864 single base substitution G C upstream_gene_variant LUSC-KR 17 61768399 61768399 single base substitution C T 3_prime_UTR_variant LUSC-KR 17 61768399 61768399 single base substitution C T downstream_gene_variant LUSC-KR 17 61768399 61768399 single base substitution C T intron_variant LUSC-KR 17 61771314 61771314 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 61771314 61771314 single base substitution G T downstream_gene_variant LUSC-KR 17 61777164 61777164 single base substitution T C downstream_gene_variant LUSC-KR 17 61777249 61777249 single base substitution G C downstream_gene_variant LUSC-US 17 61767648 61767648 single base substitution G T 3_prime_UTR_variant LUSC-US 17 61767648 61767648 single base substitution G T downstream_gene_variant LUSC-US 17 61767648 61767648 single base substitution G T missense_variant R359L 1076G>T LUSC-US 17 61767648 61767648 single base substitution G T missense_variant R363L 1088G>T LUSC-US 17 61767648 61767648 single base substitution G T missense_variant R390L 1169G>T LUSC-US 17 61767648 61767648 single base substitution G T missense_variant R394L 1181G>T LUSC-US 17 61767648 61767648 single base substitution G T upstream_gene_variant LUSC-US 17 61776255 61776255 single base substitution C T downstream_gene_variant MALY-DE 17 61701252 61701252 single base substitution G A intron_variant MALY-DE 17 61701331 61701331 single base substitution A T intron_variant MALY-DE 17 61706369 61706369 single base substitution C T intron_variant MALY-DE 17 61717090 61717090 insertion of <=200bp - A intron_variant MALY-DE 17 61721775 61721775 single base substitution C T intron_variant MALY-DE 17 61732397 61732397 insertion of <=200bp - A intron_variant MALY-DE 17 61737270 61737270 single base substitution T G intron_variant MALY-DE 17 61738061 61738061 single base substitution T C intron_variant MALY-DE 17 61738081 61738081 single base substitution T C intron_variant MALY-DE 17 61741658 61741658 single base substitution A C intron_variant MALY-DE 17 61741658 61741658 single base substitution A C upstream_gene_variant MALY-DE 17 61741694 61741694 single base substitution A G intron_variant MALY-DE 17 61741694 61741694 single base substitution A G upstream_gene_variant MALY-DE 17 61762944 61762944 single base substitution C T 3_prime_UTR_variant MALY-DE 17 61762944 61762944 single base substitution C T missense_variant A235V 704C>T MALY-DE 17 61762944 61762944 single base substitution C T missense_variant A266V 797C>T MALY-DE 17 61762944 61762944 single base substitution C T splice_region_variant MALY-DE 17 61762944 61762944 single base substitution C T upstream_gene_variant MALY-DE 17 61770668 61770668 single base substitution G T downstream_gene_variant MALY-DE 17 61770668 61770668 single base substitution G T intron_variant MALY-DE 17 61773512 61773512 single base substitution A C 3_prime_UTR_variant MALY-DE 17 61773512 61773512 single base substitution A C downstream_gene_variant MALY-DE 17 61773754 61773754 single base substitution A G downstream_gene_variant MALY-DE 17 61775396 61775396 single base substitution T C downstream_gene_variant MALY-DE 17 61776062 61776062 single base substitution G C downstream_gene_variant MALY-DE 17 61776699 61776699 single base substitution C T downstream_gene_variant MALY-DE 17 61778426 61778426 single base substitution C G downstream_gene_variant MELA-AU 17 61695014 61695014 single base substitution G A upstream_gene_variant MELA-AU 17 61695144 61695144 single base substitution G A upstream_gene_variant MELA-AU 17 61695811 61695811 single base substitution A C upstream_gene_variant MELA-AU 17 61696291 61696291 single base substitution G T upstream_gene_variant MELA-AU 17 61696868 61696868 single base substitution G A upstream_gene_variant MELA-AU 17 61697032 61697032 single base substitution C T upstream_gene_variant MELA-AU 17 61697538 61697538 single base substitution C T upstream_gene_variant MELA-AU 17 61697641 61697641 single base substitution T A upstream_gene_variant MELA-AU 17 61697643 61697643 single base substitution A G upstream_gene_variant MELA-AU 17 61698058 61698058 single base substitution G A upstream_gene_variant MELA-AU 17 61698790 61698790 single base substitution G A upstream_gene_variant MELA-AU 17 61699416 61699416 single base substitution G A upstream_gene_variant MELA-AU 17 61699417 61699417 single base substitution G A upstream_gene_variant MELA-AU 17 61699476 61699477 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 61699567 61699568 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 61701653 61701653 insertion of <=200bp - T intron_variant MELA-AU 17 61702725 61702725 single base substitution C T intron_variant MELA-AU 17 61702972 61702972 single base substitution C T intron_variant MELA-AU 17 61702992 61702992 single base substitution C A intron_variant MELA-AU 17 61703811 61703811 single base substitution T G intron_variant MELA-AU 17 61704758 61704758 single base substitution A T intron_variant MELA-AU 17 61706388 61706388 single base substitution T C intron_variant MELA-AU 17 61707101 61707101 single base substitution T A intron_variant MELA-AU 17 61707501 61707501 single base substitution C A intron_variant MELA-AU 17 61707511 61707511 single base substitution C T intron_variant MELA-AU 17 61708216 61708216 single base substitution C T intron_variant MELA-AU 17 61708288 61708288 single base substitution C T intron_variant MELA-AU 17 61708354 61708354 single base substitution A T intron_variant MELA-AU 17 61709106 61709106 deletion of <=200bp A - intron_variant MELA-AU 17 61712616 61712616 single base substitution T C intron_variant MELA-AU 17 61713562 61713562 single base substitution A T intron_variant MELA-AU 17 61713955 61713955 single base substitution C T intron_variant MELA-AU 17 61715035 61715035 single base substitution C T intron_variant MELA-AU 17 61715392 61715392 single base substitution C T intron_variant MELA-AU 17 61715518 61715518 single base substitution C T intron_variant MELA-AU 17 61715769 61715769 single base substitution C T intron_variant MELA-AU 17 61716495 61716495 single base substitution C T intron_variant MELA-AU 17 61716920 61716920 single base substitution T C intron_variant MELA-AU 17 61717389 61717389 single base substitution C T intron_variant MELA-AU 17 61717663 61717663 single base substitution A T intron_variant MELA-AU 17 61717922 61717922 single base substitution C T intron_variant MELA-AU 17 61718078 61718078 single base substitution C T intron_variant MELA-AU 17 61718325 61718325 single base substitution G A intron_variant MELA-AU 17 61718661 61718662 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 61718836 61718836 single base substitution C T intron_variant MELA-AU 17 61718952 61718952 single base substitution C T intron_variant MELA-AU 17 61719272 61719272 single base substitution C T intron_variant MELA-AU 17 61719353 61719353 single base substitution G A intron_variant MELA-AU 17 61720205 61720206 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61720277 61720277 single base substitution C T intron_variant MELA-AU 17 61720864 61720864 single base substitution C T intron_variant MELA-AU 17 61721215 61721215 single base substitution C T intron_variant MELA-AU 17 61721858 61721858 single base substitution G A intron_variant MELA-AU 17 61722325 61722326 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61722515 61722515 single base substitution C T intron_variant MELA-AU 17 61722825 61722825 single base substitution C T intron_variant MELA-AU 17 61723090 61723090 single base substitution C T intron_variant MELA-AU 17 61723250 61723250 single base substitution C T intron_variant MELA-AU 17 61724821 61724821 single base substitution C T intron_variant MELA-AU 17 61725323 61725324 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61725414 61725414 single base substitution C T intron_variant MELA-AU 17 61725414 61725415 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61725418 61725418 single base substitution C T intron_variant MELA-AU 17 61726355 61726355 single base substitution T C intron_variant MELA-AU 17 61726887 61726887 single base substitution C T intron_variant MELA-AU 17 61727095 61727095 single base substitution T G intron_variant MELA-AU 17 61727305 61727305 single base substitution C T intron_variant MELA-AU 17 61727676 61727676 single base substitution T A intron_variant MELA-AU 17 61727688 61727688 single base substitution C T intron_variant MELA-AU 17 61727696 61727696 single base substitution C T intron_variant MELA-AU 17 61727703 61727704 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61728006 61728006 single base substitution C T intron_variant MELA-AU 17 61728485 61728485 single base substitution C T intron_variant MELA-AU 17 61728920 61728920 single base substitution C T intron_variant MELA-AU 17 61729062 61729062 single base substitution A C intron_variant MELA-AU 17 61729099 61729099 single base substitution C T intron_variant MELA-AU 17 61729389 61729389 single base substitution C G intron_variant MELA-AU 17 61729542 61729542 single base substitution C A intron_variant MELA-AU 17 61729545 61729545 single base substitution C T intron_variant MELA-AU 17 61729581 61729581 single base substitution C T intron_variant MELA-AU 17 61729836 61729836 single base substitution A G intron_variant MELA-AU 17 61729870 61729870 single base substitution C A intron_variant MELA-AU 17 61730394 61730394 single base substitution G T intron_variant MELA-AU 17 61730940 61730940 single base substitution C T intron_variant MELA-AU 17 61731023 61731024 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61731025 61731025 single base substitution G A intron_variant MELA-AU 17 61731086 61731086 single base substitution C T intron_variant MELA-AU 17 61731644 61731644 single base substitution C T intron_variant MELA-AU 17 61732090 61732090 single base substitution T C intron_variant MELA-AU 17 61732909 61732909 single base substitution T C intron_variant MELA-AU 17 61733867 61733867 single base substitution A T intron_variant MELA-AU 17 61734103 61734103 single base substitution C T intron_variant MELA-AU 17 61735354 61735354 single base substitution C T intron_variant MELA-AU 17 61735364 61735364 single base substitution C A intron_variant MELA-AU 17 61736373 61736373 single base substitution G A intron_variant MELA-AU 17 61736390 61736390 single base substitution C T intron_variant MELA-AU 17 61736920 61736921 multiple base substitution (>=2bp and <=200bp) TC AG intron_variant MELA-AU 17 61737417 61737417 single base substitution C T intron_variant MELA-AU 17 61737512 61737512 single base substitution C T intron_variant MELA-AU 17 61737771 61737771 single base substitution C T intron_variant MELA-AU 17 61737788 61737788 single base substitution G A intron_variant MELA-AU 17 61737888 61737888 single base substitution C T intron_variant MELA-AU 17 61738208 61738208 single base substitution G A intron_variant MELA-AU 17 61738311 61738311 single base substitution C T intron_variant MELA-AU 17 61739092 61739092 single base substitution C T intron_variant MELA-AU 17 61740140 61740140 single base substitution C T intron_variant MELA-AU 17 61740140 61740140 single base substitution C T upstream_gene_variant MELA-AU 17 61740219 61740219 single base substitution G A intron_variant MELA-AU 17 61740219 61740219 single base substitution G A upstream_gene_variant MELA-AU 17 61740552 61740552 single base substitution T A intron_variant MELA-AU 17 61740552 61740552 single base substitution T A upstream_gene_variant MELA-AU 17 61741839 61741839 single base substitution C T intron_variant MELA-AU 17 61741839 61741839 single base substitution C T upstream_gene_variant MELA-AU 17 61742274 61742274 single base substitution C T intron_variant MELA-AU 17 61742274 61742274 single base substitution C T upstream_gene_variant MELA-AU 17 61742843 61742843 single base substitution G A intron_variant MELA-AU 17 61742843 61742843 single base substitution G A upstream_gene_variant MELA-AU 17 61742878 61742878 single base substitution C T intron_variant MELA-AU 17 61742878 61742878 single base substitution C T upstream_gene_variant MELA-AU 17 61743213 61743213 single base substitution C T intron_variant MELA-AU 17 61743213 61743213 single base substitution C T upstream_gene_variant MELA-AU 17 61743215 61743215 single base substitution C A intron_variant MELA-AU 17 61743215 61743215 single base substitution C A upstream_gene_variant MELA-AU 17 61744050 61744050 single base substitution C T intron_variant MELA-AU 17 61744050 61744050 single base substitution C T upstream_gene_variant MELA-AU 17 61744388 61744388 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61744388 61744388 single base substitution C T exon_variant MELA-AU 17 61744388 61744388 single base substitution C T missense_variant P157L 470C>T MELA-AU 17 61744388 61744388 single base substitution C T missense_variant P188L 563C>T MELA-AU 17 61744654 61744654 single base substitution C T intron_variant MELA-AU 17 61745155 61745155 single base substitution C T intron_variant MELA-AU 17 61745325 61745325 single base substitution C T intron_variant MELA-AU 17 61745335 61745335 single base substitution C T intron_variant MELA-AU 17 61746142 61746142 single base substitution G A intron_variant MELA-AU 17 61747165 61747165 single base substitution C T intron_variant MELA-AU 17 61748040 61748040 single base substitution C T intron_variant MELA-AU 17 61748597 61748597 single base substitution C T intron_variant MELA-AU 17 61748684 61748684 single base substitution C T intron_variant MELA-AU 17 61749452 61749452 single base substitution G C intron_variant MELA-AU 17 61750047 61750047 single base substitution T C intron_variant MELA-AU 17 61750965 61750965 single base substitution C T intron_variant MELA-AU 17 61751224 61751224 single base substitution C T intron_variant MELA-AU 17 61751306 61751306 single base substitution C T intron_variant MELA-AU 17 61751450 61751450 single base substitution A C intron_variant MELA-AU 17 61751460 61751460 single base substitution T C intron_variant MELA-AU 17 61751813 61751814 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 61751874 61751874 single base substitution G A intron_variant MELA-AU 17 61752082 61752082 single base substitution T G intron_variant MELA-AU 17 61752120 61752120 single base substitution C A intron_variant MELA-AU 17 61752186 61752186 deletion of <=200bp T - intron_variant MELA-AU 17 61753184 61753184 single base substitution T C intron_variant MELA-AU 17 61753661 61753661 single base substitution C T intron_variant MELA-AU 17 61754142 61754142 single base substitution C T intron_variant MELA-AU 17 61755316 61755316 single base substitution C T intron_variant MELA-AU 17 61755316 61755317 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 17 61755404 61755404 single base substitution C T intron_variant MELA-AU 17 61755719 61755719 single base substitution G A intron_variant MELA-AU 17 61755987 61755987 single base substitution G A intron_variant MELA-AU 17 61756413 61756414 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 17 61756934 61756934 single base substitution C T intron_variant MELA-AU 17 61757971 61757971 single base substitution C T intron_variant MELA-AU 17 61758175 61758175 single base substitution T A intron_variant MELA-AU 17 61758673 61758673 single base substitution A T intron_variant MELA-AU 17 61759104 61759104 single base substitution A G intron_variant MELA-AU 17 61759136 61759137 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 17 61759136 61759137 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant NP171NS MELA-AU 17 61759136 61759137 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant NP202NS MELA-AU 17 61759412 61759412 single base substitution C T intron_variant MELA-AU 17 61760016 61760016 single base substitution C T intron_variant MELA-AU 17 61761191 61761191 single base substitution C G intron_variant MELA-AU 17 61761191 61761191 single base substitution C G upstream_gene_variant MELA-AU 17 61761217 61761217 single base substitution C T intron_variant MELA-AU 17 61761217 61761217 single base substitution C T upstream_gene_variant MELA-AU 17 61761603 61761603 single base substitution G A intron_variant MELA-AU 17 61761603 61761603 single base substitution G A upstream_gene_variant MELA-AU 17 61761653 61761653 single base substitution C T intron_variant MELA-AU 17 61761653 61761653 single base substitution C T upstream_gene_variant MELA-AU 17 61761958 61761958 single base substitution C T intron_variant MELA-AU 17 61761958 61761958 single base substitution C T upstream_gene_variant MELA-AU 17 61762072 61762072 single base substitution G A intron_variant MELA-AU 17 61762072 61762072 single base substitution G A upstream_gene_variant MELA-AU 17 61764386 61764386 single base substitution C T intron_variant MELA-AU 17 61764386 61764386 single base substitution C T upstream_gene_variant MELA-AU 17 61765120 61765120 single base substitution C T intron_variant MELA-AU 17 61765120 61765120 single base substitution C T upstream_gene_variant MELA-AU 17 61765446 61765446 single base substitution G A intron_variant MELA-AU 17 61765446 61765446 single base substitution G A upstream_gene_variant MELA-AU 17 61766004 61766004 single base substitution C T intron_variant MELA-AU 17 61766004 61766004 single base substitution C T upstream_gene_variant MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC 3_prime_UTR_variant MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC exon_variant MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G265T 793GG>AC MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G269T 805GG>AC MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G296T 886GG>AC MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC missense_variant G300T 898GG>AC MELA-AU 17 61766175 61766176 multiple base substitution (>=2bp and <=200bp) GG AC upstream_gene_variant MELA-AU 17 61766223 61766223 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61766223 61766223 single base substitution C T exon_variant MELA-AU 17 61766223 61766223 single base substitution C T missense_variant H281Y 841C>T MELA-AU 17 61766223 61766223 single base substitution C T missense_variant H285Y 853C>T MELA-AU 17 61766223 61766223 single base substitution C T missense_variant H312Y 934C>T MELA-AU 17 61766223 61766223 single base substitution C T missense_variant H316Y 946C>T MELA-AU 17 61766223 61766223 single base substitution C T upstream_gene_variant MELA-AU 17 61766336 61766336 single base substitution C T downstream_gene_variant MELA-AU 17 61766336 61766336 single base substitution C T intron_variant MELA-AU 17 61766336 61766336 single base substitution C T upstream_gene_variant MELA-AU 17 61766551 61766551 single base substitution G A downstream_gene_variant MELA-AU 17 61766551 61766551 single base substitution G A intron_variant MELA-AU 17 61766551 61766551 single base substitution G A upstream_gene_variant MELA-AU 17 61767108 61767108 single base substitution C T downstream_gene_variant MELA-AU 17 61767108 61767108 single base substitution C T exon_variant MELA-AU 17 61767108 61767108 single base substitution C T intron_variant MELA-AU 17 61767108 61767108 single base substitution C T upstream_gene_variant MELA-AU 17 61768406 61768406 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61768406 61768406 single base substitution C T downstream_gene_variant MELA-AU 17 61768406 61768406 single base substitution C T intron_variant MELA-AU 17 61768874 61768874 single base substitution G A downstream_gene_variant MELA-AU 17 61768874 61768874 single base substitution G A intron_variant MELA-AU 17 61768939 61768939 single base substitution C T downstream_gene_variant MELA-AU 17 61768939 61768939 single base substitution C T intron_variant MELA-AU 17 61769588 61769588 single base substitution C T downstream_gene_variant MELA-AU 17 61769588 61769588 single base substitution C T intron_variant MELA-AU 17 61769930 61769930 single base substitution A T downstream_gene_variant MELA-AU 17 61769930 61769930 single base substitution A T intron_variant MELA-AU 17 61770185 61770185 single base substitution C T downstream_gene_variant MELA-AU 17 61770185 61770185 single base substitution C T intron_variant MELA-AU 17 61772035 61772035 single base substitution G A 3_prime_UTR_variant MELA-AU 17 61772035 61772035 single base substitution G A downstream_gene_variant MELA-AU 17 61772359 61772359 single base substitution C T 3_prime_UTR_variant MELA-AU 17 61772359 61772359 single base substitution C T downstream_gene_variant MELA-AU 17 61773875 61773875 single base substitution G C downstream_gene_variant MELA-AU 17 61774122 61774122 single base substitution C T downstream_gene_variant MELA-AU 17 61774319 61774320 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 61775785 61775786 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 61776797 61776797 single base substitution T C downstream_gene_variant MELA-AU 17 61777007 61777007 single base substitution G A downstream_gene_variant MELA-AU 17 61778051 61778051 single base substitution C T downstream_gene_variant MELA-AU 17 61778123 61778123 single base substitution C G downstream_gene_variant MELA-AU 17 61778168 61778168 insertion of <=200bp - CCCGGCAGC downstream_gene_variant MELA-AU 17 61778380 61778380 single base substitution G T downstream_gene_variant MELA-AU 17 61778627 61778627 single base substitution G A downstream_gene_variant ORCA-IN 17 61696709 61696709 single base substitution C G upstream_gene_variant ORCA-IN 17 61699233 61699233 single base substitution A T upstream_gene_variant ORCA-IN 17 61709604 61709604 single base substitution C A intron_variant ORCA-IN 17 61756569 61756569 single base substitution C A intron_variant ORCA-IN 17 61759126 61759126 single base substitution G C missense_variant S168T 503G>C ORCA-IN 17 61759126 61759126 single base substitution G C missense_variant S199T 596G>C ORCA-IN 17 61759126 61759126 single base substitution G C splice_region_variant OV-AU 17 61698167 61698167 single base substitution C G upstream_gene_variant OV-AU 17 61718723 61718723 single base substitution C T intron_variant OV-AU 17 61735729 61735729 single base substitution G A intron_variant OV-AU 17 61747578 61747578 single base substitution C T intron_variant OV-AU 17 61776095 61776095 single base substitution C G downstream_gene_variant PACA-AU 17 61694897 61694897 single base substitution C T upstream_gene_variant PACA-AU 17 61697458 61697458 single base substitution C T upstream_gene_variant PACA-AU 17 61697554 61697554 single base substitution A T upstream_gene_variant PACA-AU 17 61698141 61698141 single base substitution G T upstream_gene_variant PACA-AU 17 61698399 61698399 single base substitution G A upstream_gene_variant PACA-AU 17 61698428 61698428 single base substitution G C upstream_gene_variant PACA-AU 17 61698582 61698582 single base substitution G T upstream_gene_variant PACA-AU 17 61699062 61699062 single base substitution G T upstream_gene_variant PACA-AU 17 61699274 61699274 single base substitution G C upstream_gene_variant PACA-AU 17 61700078 61700078 single base substitution T G 5_prime_UTR_variant PACA-AU 17 61700078 61700078 single base substitution T G splice_region_variant PACA-AU 17 61705843 61705843 single base substitution C A intron_variant PACA-AU 17 61707252 61707252 single base substitution C G intron_variant PACA-AU 17 61707863 61707863 insertion of <=200bp - T intron_variant PACA-AU 17 61708023 61708023 single base substitution A T intron_variant PACA-AU 17 61715459 61715459 deletion of <=200bp A - intron_variant PACA-AU 17 61723242 61723242 single base substitution T C intron_variant PACA-AU 17 61723554 61723554 single base substitution G A intron_variant PACA-AU 17 61729740 61729740 single base substitution G T intron_variant PACA-AU 17 61733966 61733966 deletion of <=200bp A - intron_variant PACA-AU 17 61737564 61737564 deletion of <=200bp T - intron_variant PACA-AU 17 61739775 61739775 single base substitution G A intron_variant PACA-AU 17 61739775 61739775 single base substitution G A upstream_gene_variant PACA-AU 17 61740577 61740577 single base substitution G A intron_variant PACA-AU 17 61740577 61740577 single base substitution G A upstream_gene_variant PACA-AU 17 61745179 61745179 single base substitution G T intron_variant PACA-AU 17 61747283 61747283 single base substitution C G intron_variant PACA-AU 17 61769113 61769113 single base substitution G A 3_prime_UTR_variant PACA-AU 17 61769113 61769113 single base substitution G A downstream_gene_variant PACA-AU 17 61769113 61769113 single base substitution G A synonymous_variant L451L 1353G>A PACA-AU 17 61769113 61769113 single base substitution G A synonymous_variant L455L 1365G>A PACA-AU 17 61769113 61769113 single base substitution G A synonymous_variant L482L 1446G>A PACA-AU 17 61769113 61769113 single base substitution G A synonymous_variant L486L 1458G>A PACA-AU 17 61770524 61770524 single base substitution G T downstream_gene_variant PACA-AU 17 61770524 61770524 single base substitution G T intron_variant PACA-AU 17 61775500 61775500 single base substitution G A downstream_gene_variant PACA-AU 17 61776685 61776685 single base substitution T G downstream_gene_variant PACA-CA 17 61697093 61697093 single base substitution G A upstream_gene_variant PACA-CA 17 61697537 61697537 single base substitution C T upstream_gene_variant PACA-CA 17 61699606 61699606 single base substitution A G upstream_gene_variant PACA-CA 17 61700719 61700719 single base substitution G A intron_variant PACA-CA 17 61704007 61704007 single base substitution C T intron_variant PACA-CA 17 61706262 61706262 deletion of <=200bp T - intron_variant PACA-CA 17 61710377 61710377 single base substitution C T intron_variant PACA-CA 17 61714375 61714375 single base substitution G A intron_variant PACA-CA 17 61723044 61723044 single base substitution C G intron_variant PACA-CA 17 61723441 61723441 single base substitution C G splice_region_variant PACA-CA 17 61723520 61723520 single base substitution C T intron_variant PACA-CA 17 61723526 61723526 single base substitution C T intron_variant PACA-CA 17 61723763 61723763 single base substitution C T intron_variant PACA-CA 17 61723852 61723852 single base substitution C G intron_variant PACA-CA 17 61728012 61728012 single base substitution C T intron_variant PACA-CA 17 61730047 61730047 single base substitution A T intron_variant PACA-CA 17 61730716 61730716 single base substitution T C intron_variant PACA-CA 17 61733152 61733152 single base substitution G T intron_variant PACA-CA 17 61735513 61735513 single base substitution T C intron_variant PACA-CA 17 61737966 61737966 single base substitution A T intron_variant PACA-CA 17 61744891 61744891 single base substitution A C intron_variant PACA-CA 17 61744990 61744990 single base substitution C G intron_variant PACA-CA 17 61744991 61744991 single base substitution C T intron_variant PACA-CA 17 61745047 61745047 deletion of <=200bp T - intron_variant PACA-CA 17 61745607 61745607 single base substitution C A 3_prime_UTR_variant PACA-CA 17 61745607 61745607 single base substitution C A intron_variant PACA-CA 17 61748844 61748844 single base substitution G A intron_variant PACA-CA 17 61759143 61759143 single base substitution C T 3_prime_UTR_variant PACA-CA 17 61759143 61759143 single base substitution C T stop_gained R174* 520C>T PACA-CA 17 61759143 61759143 single base substitution C T stop_gained R205* 613C>T PACA-CA 17 61762794 61762794 single base substitution T C intron_variant PACA-CA 17 61762794 61762794 single base substitution T C upstream_gene_variant PACA-CA 17 61763048 61763048 single base substitution C G intron_variant PACA-CA 17 61763048 61763048 single base substitution C G upstream_gene_variant PACA-CA 17 61764804 61764804 single base substitution G A intron_variant PACA-CA 17 61764804 61764804 single base substitution G A upstream_gene_variant PACA-CA 17 61777877 61777877 single base substitution C G downstream_gene_variant PAEN-AU 17 61736202 61736202 single base substitution C T intron_variant PAEN-AU 17 61777218 61777218 single base substitution T G downstream_gene_variant PAEN-IT 17 61716659 61716659 single base substitution C A intron_variant PAEN-IT 17 61772378 61772378 single base substitution C T 3_prime_UTR_variant PAEN-IT 17 61772378 61772378 single base substitution C T downstream_gene_variant PBCA-DE 17 61697346 61697346 single base substitution G A upstream_gene_variant PBCA-DE 17 61698959 61698959 single base substitution C A upstream_gene_variant PBCA-DE 17 61711520 61711520 single base substitution C G intron_variant PBCA-DE 17 61720711 61720711 insertion of <=200bp - AA intron_variant PBCA-DE 17 61723399 61723399 single base substitution C T exon_variant PBCA-DE 17 61723399 61723399 single base substitution C T synonymous_variant D44D 132C>T PBCA-DE 17 61723399 61723399 single base substitution C T synonymous_variant D75D 225C>T PBCA-DE 17 61725549 61725549 single base substitution G T intron_variant PBCA-DE 17 61733152 61733152 single base substitution G T intron_variant PBCA-DE 17 61737162 61737162 insertion of <=200bp - ATT intron_variant PBCA-DE 17 61748528 61748529 deletion of <=200bp AG - intron_variant PBCA-DE 17 61748857 61748857 single base substitution A C intron_variant PBCA-DE 17 61750743 61750743 single base substitution C A intron_variant PBCA-DE 17 61756313 61756313 single base substitution C T intron_variant PBCA-DE 17 61765339 61765339 single base substitution G A intron_variant PBCA-DE 17 61765339 61765339 single base substitution G A upstream_gene_variant PBCA-DE 17 61766963 61766963 single base substitution T C 3_prime_UTR_variant PBCA-DE 17 61766963 61766963 single base substitution T C downstream_gene_variant PBCA-DE 17 61766963 61766963 single base substitution T C exon_variant PBCA-DE 17 61766963 61766963 single base substitution T C missense_variant S307P 919T>C PBCA-DE 17 61766963 61766963 single base substitution T C missense_variant S311P 931T>C PBCA-DE 17 61766963 61766963 single base substitution T C missense_variant S338P 1012T>C PBCA-DE 17 61766963 61766963 single base substitution T C missense_variant S342P 1024T>C PBCA-DE 17 61766963 61766963 single base substitution T C upstream_gene_variant PBCA-DE 17 61771268 61771268 single base substitution C G 3_prime_UTR_variant PBCA-DE 17 61771268 61771268 single base substitution C G downstream_gene_variant PBCA-DE 17 61772091 61772091 single base substitution C G 3_prime_UTR_variant PBCA-DE 17 61772091 61772091 single base substitution C G downstream_gene_variant PRAD-CA 17 61724510 61724510 single base substitution A G intron_variant PRAD-CA 17 61736485 61736485 single base substitution G C intron_variant PRAD-CA 17 61739103 61739103 single base substitution G C intron_variant PRAD-CA 17 61745550 61745550 single base substitution G T 3_prime_UTR_variant PRAD-CA 17 61745550 61745550 single base substitution G T intron_variant PRAD-UK 17 61695563 61695563 single base substitution A G upstream_gene_variant PRAD-UK 17 61700672 61700672 single base substitution G C intron_variant PRAD-UK 17 61705561 61705561 single base substitution C G intron_variant PRAD-UK 17 61710671 61710671 deletion of <=200bp C - intron_variant PRAD-UK 17 61729117 61729117 single base substitution A T intron_variant PRAD-UK 17 61739217 61739217 single base substitution A G intron_variant PRAD-UK 17 61739441 61739441 single base substitution C T intron_variant PRAD-UK 17 61739441 61739441 single base substitution C T upstream_gene_variant PRAD-UK 17 61746020 61746020 single base substitution C T intron_variant PRAD-UK 17 61751275 61751277 deletion of <=200bp AAA - intron_variant PRAD-UK 17 61753534 61753534 single base substitution T C intron_variant PRAD-UK 17 61758949 61758949 single base substitution T A intron_variant PRAD-US 17 61776290 61776290 single base substitution G A downstream_gene_variant PRAD-US 17 61776417 61776417 single base substitution C T downstream_gene_variant READ-US 17 61712089 61712089 single base substitution C A intron_variant READ-US 17 61712089 61712089 single base substitution C A missense_variant S49R 147C>A READ-US 17 61723404 61723404 single base substitution G A exon_variant READ-US 17 61723404 61723404 single base substitution G A missense_variant R46K 137G>A READ-US 17 61723404 61723404 single base substitution G A missense_variant R77K 230G>A READ-US 17 61770916 61770916 single base substitution G A 3_prime_UTR_variant READ-US 17 61770916 61770916 single base substitution G A downstream_gene_variant READ-US 17 61770916 61770916 single base substitution G A missense_variant G550S 1648G>A READ-US 17 61770916 61770916 single base substitution G A missense_variant G554S 1660G>A READ-US 17 61770916 61770916 single base substitution G A missense_variant G581S 1741G>A READ-US 17 61770916 61770916 single base substitution G A missense_variant G585S 1753G>A READ-US 17 61770954 61770954 single base substitution G A 3_prime_UTR_variant READ-US 17 61770954 61770954 single base substitution G A downstream_gene_variant READ-US 17 61770954 61770954 single base substitution G A synonymous_variant P562P 1686G>A READ-US 17 61770954 61770954 single base substitution G A synonymous_variant P566P 1698G>A READ-US 17 61770954 61770954 single base substitution G A synonymous_variant P593P 1779G>A READ-US 17 61770954 61770954 single base substitution G A synonymous_variant P597P 1791G>A RECA-EU 17 61709258 61709258 single base substitution C A intron_variant RECA-EU 17 61744092 61744092 single base substitution A G intron_variant RECA-EU 17 61744092 61744092 single base substitution A G upstream_gene_variant RECA-EU 17 61747965 61747965 single base substitution A G intron_variant SKCA-BR 17 61696438 61696438 single base substitution G A upstream_gene_variant SKCA-BR 17 61705212 61705212 single base substitution G A intron_variant SKCA-BR 17 61706512 61706512 single base substitution C T intron_variant SKCA-BR 17 61725657 61725657 single base substitution C T intron_variant SKCA-BR 17 61728956 61728956 single base substitution A G intron_variant SKCA-BR 17 61738424 61738424 single base substitution C T intron_variant SKCA-BR 17 61743817 61743817 single base substitution G A intron_variant SKCA-BR 17 61743817 61743817 single base substitution G A upstream_gene_variant SKCA-BR 17 61744654 61744654 single base substitution C T intron_variant SKCA-BR 17 61745790 61745790 single base substitution G A intron_variant SKCA-BR 17 61747579 61747579 single base substitution T G intron_variant SKCA-BR 17 61747751 61747751 single base substitution T C intron_variant SKCA-BR 17 61748620 61748620 insertion of <=200bp - CT intron_variant SKCA-BR 17 61754188 61754188 single base substitution C T intron_variant SKCA-BR 17 61764679 61764681 deletion of <=200bp CAT - intron_variant SKCA-BR 17 61764679 61764681 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 17 61766120 61766120 single base substitution G A exon_variant SKCA-BR 17 61766120 61766120 single base substitution G A intron_variant SKCA-BR 17 61766120 61766120 single base substitution G A upstream_gene_variant SKCA-BR 17 61771116 61771116 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 61771116 61771116 single base substitution C T downstream_gene_variant SKCA-BR 17 61771116 61771116 single base substitution C T synonymous_variant H616H 1848C>T SKCA-BR 17 61771116 61771116 single base substitution C T synonymous_variant H620H 1860C>T SKCA-BR 17 61771116 61771116 single base substitution C T synonymous_variant H647H 1941C>T SKCA-BR 17 61771116 61771116 single base substitution C T synonymous_variant H651H 1953C>T SKCA-BR 17 61775243 61775243 single base substitution A G downstream_gene_variant SKCA-BR 17 61775843 61775843 single base substitution G A downstream_gene_variant SKCA-BR 17 61777658 61777658 single base substitution T C downstream_gene_variant SKCM-US 17 61723433 61723433 single base substitution C G missense_variant R56G 166C>G SKCM-US 17 61723433 61723433 single base substitution C G missense_variant R87G 259C>G SKCM-US 17 61723433 61723433 single base substitution C G splice_region_variant SKCM-US 17 61730009 61730009 single base substitution A G 3_prime_UTR_variant SKCM-US 17 61730009 61730009 single base substitution A G missense_variant N118S 353A>G SKCM-US 17 61730009 61730009 single base substitution A G missense_variant N87S 260A>G SKCM-US 17 61735251 61735251 single base substitution C T 3_prime_UTR_variant SKCM-US 17 61735251 61735251 single base substitution C T missense_variant S122F 365C>T SKCM-US 17 61735251 61735251 single base substitution C T missense_variant S153F 458C>T SKCM-US 17 61744305 61744305 single base substitution T C 3_prime_UTR_variant SKCM-US 17 61744305 61744305 single base substitution T C synonymous_variant S129S 387T>C SKCM-US 17 61744305 61744305 single base substitution T C synonymous_variant S160S 480T>C SKCM-US 17 61744305 61744305 single base substitution T C upstream_gene_variant SKCM-US 17 61744314 61744314 single base substitution C T 3_prime_UTR_variant SKCM-US 17 61744314 61744314 single base substitution C T synonymous_variant P132P 396C>T SKCM-US 17 61744314 61744314 single base substitution C T synonymous_variant P163P 489C>T SKCM-US 17 61744314 61744314 single base substitution C T upstream_gene_variant SKCM-US 17 61766961 61766961 single base substitution C T 3_prime_UTR_variant SKCM-US 17 61766961 61766961 single base substitution C T downstream_gene_variant SKCM-US 17 61766961 61766961 single base substitution C T exon_variant SKCM-US 17 61766961 61766961 single base substitution C T missense_variant P306L 917C>T SKCM-US 17 61766961 61766961 single base substitution C T missense_variant P310L 929C>T SKCM-US 17 61766961 61766961 single base substitution C T missense_variant P337L 1010C>T SKCM-US 17 61766961 61766961 single base substitution C T missense_variant P341L 1022C>T SKCM-US 17 61766961 61766961 single base substitution C T upstream_gene_variant SKCM-US 17 61766969 61766969 single base substitution C G 3_prime_UTR_variant SKCM-US 17 61766969 61766969 single base substitution C G downstream_gene_variant SKCM-US 17 61766969 61766969 single base substitution C G exon_variant SKCM-US 17 61766969 61766969 single base substitution C G missense_variant R309G 925C>G SKCM-US 17 61766969 61766969 single base substitution C G missense_variant R313G 937C>G SKCM-US 17 61766969 61766969 single base substitution C G missense_variant R340G 1018C>G SKCM-US 17 61766969 61766969 single base substitution C G missense_variant R344G 1030C>G SKCM-US 17 61766969 61766969 single base substitution C G upstream_gene_variant SKCM-US 17 61768530 61768530 single base substitution C T 3_prime_UTR_variant SKCM-US 17 61768530 61768530 single base substitution C T downstream_gene_variant SKCM-US 17 61768530 61768530 single base substitution C T synonymous_variant Y423Y 1269C>T SKCM-US 17 61768530 61768530 single base substitution C T synonymous_variant Y427Y 1281C>T SKCM-US 17 61768530 61768530 single base substitution C T synonymous_variant Y454Y 1362C>T SKCM-US 17 61768530 61768530 single base substitution C T synonymous_variant Y458Y 1374C>T SKCM-US 17 61769192 61769192 single base substitution A T 3_prime_UTR_variant SKCM-US 17 61769192 61769192 single base substitution A T downstream_gene_variant SKCM-US 17 61769192 61769192 single base substitution A T missense_variant S478C 1432A>T SKCM-US 17 61769192 61769192 single base substitution A T missense_variant S482C 1444A>T SKCM-US 17 61769192 61769192 single base substitution A T missense_variant S509C 1525A>T SKCM-US 17 61769192 61769192 single base substitution A T missense_variant S513C 1537A>T SKCM-US 17 61770952 61770952 single base substitution C T 3_prime_UTR_variant SKCM-US 17 61770952 61770952 single base substitution C T downstream_gene_variant SKCM-US 17 61770952 61770952 single base substitution C T missense_variant P562S 1684C>T SKCM-US 17 61770952 61770952 single base substitution C T missense_variant P566S 1696C>T SKCM-US 17 61770952 61770952 single base substitution C T missense_variant P593S 1777C>T SKCM-US 17 61770952 61770952 single base substitution C T missense_variant P597S 1789C>T STAD-US 17 61710073 61710073 single base substitution G A exon_variant STAD-US 17 61710073 61710073 single base substitution G A missense_variant D13N 37G>A STAD-US 17 61744392 61744392 single base substitution C T 3_prime_UTR_variant STAD-US 17 61744392 61744392 single base substitution C T exon_variant STAD-US 17 61744392 61744392 single base substitution C T synonymous_variant P158P 474C>T STAD-US 17 61744392 61744392 single base substitution C T synonymous_variant P189P 567C>T STAD-US 17 61744414 61744414 single base substitution T C 3_prime_UTR_variant STAD-US 17 61744414 61744414 single base substitution T C exon_variant STAD-US 17 61744414 61744414 single base substitution T C missense_variant S166P 496T>C STAD-US 17 61744414 61744414 single base substitution T C missense_variant S197P 589T>C STAD-US 17 61759155 61759155 deletion of <=200bp C - 3_prime_UTR_variant STAD-US 17 61759155 61759155 deletion of <=200bp C - frameshift_variant P178 STAD-US 17 61759155 61759155 deletion of <=200bp C - frameshift_variant P209 STAD-US 17 61759260 61759260 single base substitution G A splice_donor_variant STAD-US 17 61766937 61766937 single base substitution A G 3_prime_UTR_variant STAD-US 17 61766937 61766937 single base substitution A G downstream_gene_variant STAD-US 17 61766937 61766937 single base substitution A G exon_variant STAD-US 17 61766937 61766937 single base substitution A G missense_variant Q298R 893A>G STAD-US 17 61766937 61766937 single base substitution A G missense_variant Q302R 905A>G STAD-US 17 61766937 61766937 single base substitution A G missense_variant Q329R 986A>G STAD-US 17 61766937 61766937 single base substitution A G missense_variant Q333R 998A>G STAD-US 17 61766937 61766937 single base substitution A G upstream_gene_variant STAD-US 17 61767711 61767711 single base substitution C T 3_prime_UTR_variant STAD-US 17 61767711 61767711 single base substitution C T downstream_gene_variant STAD-US 17 61767711 61767711 single base substitution C T exon_variant STAD-US 17 61767711 61767711 single base substitution C T missense_variant T380M 1139C>T STAD-US 17 61767711 61767711 single base substitution C T missense_variant T384M 1151C>T STAD-US 17 61767711 61767711 single base substitution C T missense_variant T411M 1232C>T STAD-US 17 61767711 61767711 single base substitution C T missense_variant T415M 1244C>T STAD-US 17 61769160 61769160 single base substitution G A 3_prime_UTR_variant STAD-US 17 61769160 61769160 single base substitution G A downstream_gene_variant STAD-US 17 61769160 61769160 single base substitution G A missense_variant R467Q 1400G>A STAD-US 17 61769160 61769160 single base substitution G A missense_variant R471Q 1412G>A STAD-US 17 61769160 61769160 single base substitution G A missense_variant R498Q 1493G>A STAD-US 17 61769160 61769160 single base substitution G A missense_variant R502Q 1505G>A STAD-US 17 61770978 61770978 single base substitution C T 3_prime_UTR_variant STAD-US 17 61770978 61770978 single base substitution C T downstream_gene_variant STAD-US 17 61770978 61770978 single base substitution C T synonymous_variant A570A 1710C>T STAD-US 17 61770978 61770978 single base substitution C T synonymous_variant A574A 1722C>T STAD-US 17 61770978 61770978 single base substitution C T synonymous_variant A601A 1803C>T STAD-US 17 61770978 61770978 single base substitution C T synonymous_variant A605A 1815C>T STAD-US 17 61770979 61770979 single base substitution G A 3_prime_UTR_variant STAD-US 17 61770979 61770979 single base substitution G A downstream_gene_variant STAD-US 17 61770979 61770979 single base substitution G A missense_variant A571T 1711G>A STAD-US 17 61770979 61770979 single base substitution G A missense_variant A575T 1723G>A STAD-US 17 61770979 61770979 single base substitution G A missense_variant A602T 1804G>A STAD-US 17 61770979 61770979 single base substitution G A missense_variant A606T 1816G>A STAD-US 17 61776056 61776056 single base substitution G A downstream_gene_variant STAD-US 17 61776626 61776626 single base substitution G T downstream_gene_variant THCA-US 17 61759152 61759152 single base substitution C T 3_prime_UTR_variant THCA-US 17 61759152 61759152 single base substitution C T missense_variant P177S 529C>T THCA-US 17 61759152 61759152 single base substitution C T missense_variant P208S 622C>T THCA-US 17 61759173 61759173 single base substitution G A 3_prime_UTR_variant THCA-US 17 61759173 61759173 single base substitution G A missense_variant E184K 550G>A THCA-US 17 61759173 61759173 single base substitution G A missense_variant E215K 643G>A THCA-US 17 61762904 61762904 single base substitution A T 3_prime_UTR_variant THCA-US 17 61762904 61762904 single base substitution A T missense_variant N222Y 664A>T THCA-US 17 61762904 61762904 single base substitution A T missense_variant N253Y 757A>T THCA-US 17 61762904 61762904 single base substitution A T upstream_gene_variant UCEC-US 17 61710043 61710043 single base substitution G A missense_variant E3K 7G>A UCEC-US 17 61710043 61710043 single base substitution G A splice_region_variant UCEC-US 17 61759195 61759195 single base substitution G A 3_prime_UTR_variant UCEC-US 17 61759195 61759195 single base substitution G A missense_variant R191Q 572G>A UCEC-US 17 61759195 61759195 single base substitution G A missense_variant R222Q 665G>A UCEC-US 17 61766203 61766203 single base substitution G A 3_prime_UTR_variant UCEC-US 17 61766203 61766203 single base substitution G A exon_variant UCEC-US 17 61766203 61766203 single base substitution G A missense_variant R274H 821G>A UCEC-US 17 61766203 61766203 single base substitution G A missense_variant R278H 833G>A UCEC-US 17 61766203 61766203 single base substitution G A missense_variant R305H 914G>A UCEC-US 17 61766203 61766203 single base substitution G A missense_variant R309H 926G>A UCEC-US 17 61766203 61766203 single base substitution G A upstream_gene_variant UCEC-US 17 61766214 61766214 single base substitution T C 3_prime_UTR_variant UCEC-US 17 61766214 61766214 single base substitution T C exon_variant UCEC-US 17 61766214 61766214 single base substitution T C missense_variant S278P 832T>C UCEC-US 17 61766214 61766214 single base substitution T C missense_variant S282P 844T>C UCEC-US 17 61766214 61766214 single base substitution T C missense_variant S309P 925T>C UCEC-US 17 61766214 61766214 single base substitution T C missense_variant S313P 937T>C UCEC-US 17 61766214 61766214 single base substitution T C upstream_gene_variant UCEC-US 17 61766242 61766242 single base substitution G A downstream_gene_variant UCEC-US 17 61766242 61766242 single base substitution G A splice_donor_variant UCEC-US 17 61766242 61766242 single base substitution G A upstream_gene_variant UCEC-US 17 61766927 61766927 single base substitution C T 3_prime_UTR_variant UCEC-US 17 61766927 61766927 single base substitution C T downstream_gene_variant UCEC-US 17 61766927 61766927 single base substitution C T exon_variant UCEC-US 17 61766927 61766927 single base substitution C T missense_variant R295W 883C>T UCEC-US 17 61766927 61766927 single base substitution C T missense_variant R299W 895C>T UCEC-US 17 61766927 61766927 single base substitution C T missense_variant R326W 976C>T UCEC-US 17 61766927 61766927 single base substitution C T missense_variant R330W 988C>T UCEC-US 17 61766927 61766927 single base substitution C T upstream_gene_variant UCEC-US 17 61767772 61767772 single base substitution G T downstream_gene_variant UCEC-US 17 61767772 61767772 single base substitution G T missense_variant K400N 1200G>T UCEC-US 17 61767772 61767772 single base substitution G T missense_variant K404N 1212G>T UCEC-US 17 61767772 61767772 single base substitution G T missense_variant K431N 1293G>T UCEC-US 17 61767772 61767772 single base substitution G T missense_variant K435N 1305G>T UCEC-US 17 61767772 61767772 single base substitution G T splice_region_variant UCEC-US 17 61768517 61768517 single base substitution G A 3_prime_UTR_variant UCEC-US 17 61768517 61768517 single base substitution G A downstream_gene_variant UCEC-US 17 61768517 61768517 single base substitution G A missense_variant R419H 1256G>A UCEC-US 17 61768517 61768517 single base substitution G A missense_variant R423H 1268G>A UCEC-US 17 61768517 61768517 single base substitution G A missense_variant R450H 1349G>A UCEC-US 17 61768517 61768517 single base substitution G A missense_variant R454H 1361G>A UCEC-US 17 61769157 61769157 single base substitution C T 3_prime_UTR_variant UCEC-US 17 61769157 61769157 single base substitution C T downstream_gene_variant UCEC-US 17 61769157 61769157 single base substitution C T missense_variant T466M 1397C>T UCEC-US 17 61769157 61769157 single base substitution C T missense_variant T470M 1409C>T UCEC-US 17 61769157 61769157 single base substitution C T missense_variant T497M 1490C>T UCEC-US 17 61769157 61769157 single base substitution C T missense_variant T501M 1502C>T UCEC-US 17 61769601 61769601 single base substitution G A downstream_gene_variant UCEC-US 17 61769601 61769601 single base substitution G A splice_acceptor_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 9-RS COSM1731832 c.1825C>A p.Q609K Substitution - Missense 17:63693721-63693721 + PTC-7C COSM4130484 c.528A>C p.S176S Substitution - coding silent 17:63681791-63681791 + BD114T COSM5504353 c.1653-1G>C p.? Unknown 17:63693548-63693548 + TCGA-AX-A063-01 COSM982653 c.844T>C p.S282P Substitution - Missense 17:63688854-63688854 + STC263 COSM5055683 c.1405T>C p.Y469H Substitution - Missense 17:63691793-63691793 + CRC-06T COSM5456635 c.1490G>A p.R497Q Substitution - Missense 17:63692257-63692257 + TCGA-AD-5900-01 COSM1385174 c.1156C>T p.R386C Substitution - Missense 17:63690356-63690356 + 61 COSM5015516 c.1797C>A p.F599L Substitution - Missense 17:63693693-63693693 + TCGA-AP-A059-01 COSM982657 c.895C>T p.R299W Substitution - Missense 17:63689567-63689567 + TCGA-CD-A4MG-01 COSM4068602 c.1151C>T p.T384M Substitution - Missense 17:63690351-63690351 + TCGA-FR-A3YO-06 COSM3520781 c.937C>G p.R313G Substitution - Missense 17:63689609-63689609 + PCSI_0083_Pa_P_526 COSM3787399 c.520C>T p.R174* Substitution - Nonsense 17:63681783-63681783 + PD1520a COSM20435 c.532delC p.P179fs*39 Deletion - Frameshift 17:63681795-63681795 + OSCC-GB_00350111 COSM3712415 c.503G>C p.S168T Substitution - Missense 17:63681766-63681766 + B89-4-Tumor COSM1750225 c.133G>A p.V45I Substitution - Missense 17:63646040-63646040 + B80 COSM1750224 c.94A>G p.K32E Substitution - Missense 17:63632770-63632770 + TCGA-AA-3672-01 COSM266896 c.1538G>A p.R513H Substitution - Missense 17:63692305-63692305 + TCGA-DJ-A2PR-01 COSM3370849 c.664A>T p.N222Y Substitution - Missense 17:63685544-63685544 + TCGA-D1-A17H-01 COSM982661 c.1268G>A p.R423H Substitution - Missense 17:63691157-63691157 + LC_C6 COSM1189535 c.896G>A p.R299Q Substitution - Missense 17:63689568-63689568 + TCGA-BS-A0TA-01 COSM982669 c.1841A>T p.E614V Substitution - Missense 17:63693737-63693737 + TCGA-66-2766-01 COSM561981 c.1088G>T p.R363L Substitution - Missense 17:63690288-63690288 + TCGA-AP-A059-01 COSM982665 c.1475-1G>A p.? Unknown 17:63692241-63692241 + TCGA-HU-A4GN-01 COSM4068594 c.474C>T p.P158P Substitution - coding silent 17:63667032-63667032 + 104379 COSM96009 c.1350G>C p.S450S Substitution - coding silent 17:63691738-63691738 + XHDG04 COSM4768333 c.1400G>A p.R467Q Substitution - Missense 17:63691788-63691788 + ESCC_36 COSM5628776 c.446G>C p.G149A Substitution - Missense 17:63667004-63667004 + TCGA-B0-5098-01 COSM1494016 c.791A>G p.Q264R Substitution - Missense 17:63688801-63688801 + P8 COSM5009888 c.1176G>A p.Q392Q Substitution - coding silent 17:63690376-63690376 + TCGA-AA-A010-01 COSM282652 c.1272C>T p.I424I Substitution - coding silent 17:63691161-63691161 + C91 COSM4444606 c.685C>T p.Q229* Substitution - Nonsense 17:63685565-63685565 + H1672 COSM312733 c.779-2A>T p.? Unknown 17:63688787-63688787 + TCGA-BJ-A18Z-01 COSM4413855 c.550G>A p.E184K Substitution - Missense 17:63681813-63681813 + TCGA-HU-A4G9-01 COSM4068604 c.1412G>A p.R471Q Substitution - Missense 17:63691800-63691800 + TCGA-B4-5832-01 COSM1494015 c.1161A>C p.E387D Substitution - Missense 17:63690361-63690361 + TCGA-BR-8372-01 COSM4068598 c.636+1G>A p.? Unknown 17:63681900-63681900 + sysucc-1450T COSM5480231 c.491A>C p.H164P Substitution - Missense 17:63667049-63667049 + PC-9S2 COSM1684996 c.646C>T p.P216S Substitution - Missense 17:63685526-63685526 + H1155 COSM1196206 c.1823G>A p.R608H Substitution - Missense 17:63693719-63693719 + TCGA-DK-A2I4-01 COSM3795941 c.1047G>A p.R349R Substitution - coding silent 17:63689719-63689719 + TCGA-BR-8059-01 COSM4068606 c.1722C>T p.A574A Substitution - coding silent 17:63693618-63693618 + 587376 COSM1214420 c.320T>C p.L107S Substitution - Missense 17:63657846-63657846 + PD1520a COSM20435 c.532delC p.P179fs*39 Deletion - Frameshift 17:63681795-63681795 + I2L-P19Tb-Tumor-Biopsy COSM5363823 c.469delC p.E159fs*59 Deletion - Frameshift 17:63667027-63667027 + TCGA-B8-4153-01 COSM473182 c.640C>T p.L214L Substitution - coding silent 17:63685520-63685520 + TCGA-36-1577-01 COSM115873 c.1246C>A p.L416I Substitution - Missense 17:63691135-63691135 + U2940 COSM5621209 c.784G>A p.E262K Substitution - Missense 17:63688794-63688794 + cSCCP6 COSM137115 c.446G>A p.G149E Substitution - Missense 17:63667004-63667004 + T3454 COSM4700334 c.721C>T p.R241W Substitution - Missense 17:63688537-63688537 + ESCC_152 COSM5645399 c.1225C>T p.L409L Substitution - coding silent 17:63691114-63691114 + TCGA-C5-A1BQ-01 COSM4842378 c.1759C>A p.Q587K Substitution - Missense 17:63693655-63693655 + sysucc-880T COSM5462680 c.370G>A p.D124N Substitution - Missense 17:63657896-63657896 + TCGA-AP-A056-01 COSM982663 c.1409C>T p.T470M Substitution - Missense 17:63691797-63691797 + TCGA-A2-A0CR-01 COSM3820203 c.1840G>C p.E614Q Substitution - Missense 17:63693736-63693736 + TCGA-EI-6882-01 COSM3421780 c.1698G>A p.P566P Substitution - coding silent 17:63693594-63693594 + T3152 COSM4700330 c.374G>T p.R125I Substitution - Missense 17:63657900-63657900 + TCGA-D3-A1Q6-06 COSM3520771 c.166C>G p.R56G Substitution - Missense 17:63646073-63646073 + CHC892T COSM4795827 c.1064-1G>A p.? Unknown 17:63690263-63690263 + PR-04-194 COSM245573 c.829C>T p.R277W Substitution - Missense 17:63688839-63688839 + T2940 COSM4700332 c.670T>C p.L224L Substitution - coding silent 17:63685550-63685550 + TCGA-ER-A19C-06 COSM3520777 c.396C>T p.P132P Substitution - coding silent 17:63666954-63666954 + 35T COSM3712415 c.503G>C p.S168T Substitution - Missense 17:63681766-63681766 + SNUH_G14_S1 COSM3680534 c.1566G>A p.T522T Substitution - coding silent 17:63692333-63692333 + I2L-P28-Tumor-Organoid COSM5364306 c.93G>A p.M31I Substitution - Missense 17:63632769-63632769 + TCGA-CG-5728-01 COSM4068592 c.37G>A p.D13N Substitution - Missense 17:63632713-63632713 + LIM2551 COSM4644096 c.496T>G p.S166A Substitution - Missense 17:63667054-63667054 + ESCC-180T COSM3937503 c.99C>A p.N33K Substitution - Missense 17:63632775-63632775 + 2334192 COSM312733 c.779-2A>T p.? Unknown 17:63688787-63688787 + TCGA-EB-A5UN-06 COSM3520779 c.929C>T p.P310L Substitution - Missense 17:63689601-63689601 + LC_S21 COSM1189534 c.815G>A p.G272D Substitution - Missense 17:63688825-63688825 + PT33 COSM227624 c.389C>T p.S130F Substitution - Missense 17:63666947-63666947 + CSCC-45-T COSM4503029 c.536C>T p.P179L Substitution - Missense 17:63681799-63681799 + I2L-P19Tb-Tumor-Organoid COSM5363823 c.469delC p.E159fs*59 Deletion - Frameshift 17:63667027-63667027 + PD24212a COSM5781069 c.655A>G p.S219G Substitution - Missense 17:63685535-63685535 + ICGC_MB81 COSM3764620 c.132C>T p.D44D Substitution - coding silent 17:63646039-63646039 + TCGA-AZ-4315-01 COSM1385173 c.533C>T p.P178L Substitution - Missense 17:63681796-63681796 + LS411 COSM2795240 c.885_886insC p.R297fs*85 Insertion - Frameshift 17:63689557-63689558 + CRC-06T COSM4068600 c.905A>G p.Q302R Substitution - Missense 17:63689577-63689577 + CHC892T COSM4795827 c.1064-1G>A p.? Unknown 17:63690263-63690263 + RK199_C01 COSM3742374 c.72G>T p.R24R Substitution - coding silent 17:63632748-63632748 + B80-Tumor COSM1750224 c.94A>G p.K32E Substitution - Missense 17:63632770-63632770 + RW7213 COSM4649931 c.803A>G p.K268R Substitution - Missense 17:63688813-63688813 + ESCC_81 COSM5635891 c.930C>T p.P310P Substitution - coding silent 17:63689602-63689602 + TCGA-DK-A3IU-01 COSM3795943 c.1317G>C p.L439L Substitution - coding silent 17:63691206-63691206 + 3N44-VS-3T44 COSM4982225 c.1423G>C p.E475Q Substitution - Missense 17:63691811-63691811 + T3080 COSM4700336 c.1144G>A p.V382M Substitution - Missense 17:63690344-63690344 + TCGA-D1-A174-01 COSM982667 c.1498G>A p.A500T Substitution - Missense 17:63692265-63692265 + sysucc-1370T COSM982651 c.833G>A p.R278H Substitution - Missense 17:63688843-63688843 + 6115242 COSM5566317 c.1463G>A p.R488Q Substitution - Missense 17:63691851-63691851 + TCGA-BR-6566-01 COSM4068596 c.496T>C p.S166P Substitution - Missense 17:63667054-63667054 + TCGA-BR-8487-01 COSM4068600 c.905A>G p.Q302R Substitution - Missense 17:63689577-63689577 + CSCC-29-T COSM4507305 c.649C>T p.L217L Substitution - coding silent 17:63685529-63685529 + 63 COSM5016584 c.1076_1079delCCAT p.I360fs*46 Deletion - Frameshift 17:63690276-63690279 + TCGA-F5-6814-01 COSM3421778 c.1660G>A p.G554S Substitution - Missense 17:63693556-63693556 + TCGA-BJ-A290-01 COSM3370847 c.529C>T p.P177S Substitution - Missense 17:63681792-63681792 + TCGA-D3-A3C7-06 COSM3520783 c.1281C>T p.Y427Y Substitution - coding silent 17:63691170-63691170 + 587224 COSM1214418 c.1502G>A p.G501E Substitution - Missense 17:63692269-63692269 + LOVO COSM4645284 c.176C>T p.A59V Substitution - Missense 17:63652565-63652565 + TCGA-CG-5721-01 COSM473183 c.1723G>A p.A575T Substitution - Missense 17:63693619-63693619 + TCGA-AP-A059-01 COSM982659 c.1212G>T p.K404N Substitution - Missense 17:63690412-63690412 + TCGA-B5-A11E-01 COSM982651 c.833G>A p.R278H Substitution - Missense 17:63688843-63688843 + 16951 COSM48959 c.1528delG p.A510fs*25 Deletion - Frameshift 17:63692295-63692295 + TCGA-B5-A0JY-01 COSM982645 c.7G>A p.E3K Substitution - Missense 17:63632683-63632683 + TCGA-EE-A182-06 COSM3520775 c.387T>C p.S129S Substitution - coding silent 17:63666945-63666945 + CSCC-27-T COSM4515756 c.1198_1199CC>TT p.P400F Substitution - Missense 17:63690398-63690399 + CSCC-31-T COSM4509941 c.728C>T p.S243L Substitution - Missense 17:63688544-63688544 + TCGA-F5-6814-01 COSM3421776 c.137G>A p.R46K Substitution - Missense 17:63646044-63646044 + T3091 COSM4700328 c.126+1_126+2delGT p.? Unknown 17:63632803-63632804 + 587234 COSM1214419 c.224C>T p.T75I Substitution - Missense 17:63652613-63652613 + 16606 COSM48529 c.1789C>T p.R597W Substitution - Missense 17:63693685-63693685 + TCGA-D3-A1Q4-06 COSM3520773 c.260A>G p.N87S Substitution - Missense 17:63652649-63652649 + TCGA-AX-A0J1-01 COSM982647 c.572G>A p.R191Q Substitution - Missense 17:63681835-63681835 + LP6005690-DNA_C02 COSM4412233 c.6C>T p.D2D Substitution - coding silent 17:63632682-63632682 + CHC892T COSM4794516 c.693G>A p.L231L Substitution - coding silent 17:63685573-63685573 + CHC892T COSM4794516 c.693G>A p.L231L Substitution - coding silent 17:63685573-63685573 + CSCC-27-T COSM4501660 c.501C>T p.V167V Substitution - coding silent 17:63667059-63667059 + TCGA-CK-5916-01 COSM3692012 c.441C>T p.S147S Substitution - coding silent 17:63666999-63666999 + 2024537 COSM1716503 c.1790G>T p.R597L Substitution - Missense 17:63693686-63693686 + ME035T COSM227624 c.389C>T p.S130F Substitution - Missense 17:63666947-63666947 + XHDG04 COSM4768331 c.1395G>A p.V465V Substitution - coding silent 17:63691783-63691783 + CCRF-CEM COSM245573 c.829C>T p.R277W Substitution - Missense 17:63688839-63688839 + TCGA-AP-A059-01 COSM982655 c.871+1G>A p.? Unknown 17:63688882-63688882 + MO_1012 COSM5573944 c.468_469insC p.E159fs*26 Insertion - Frameshift 17:63667026-63667027 + TCGA-CC-A7IG-01 COSM4943115 c.1215G>A p.E405E Substitution - coding silent 17:63691104-63691104 + LS411 COSM2795252 c.1593C>A p.P531P Substitution - coding silent 17:63692360-63692360 + TCGA-FG-7643-01 COSM3970225 c.759C>T p.D253D Substitution - coding silent 17:63688575-63688575 + 067T COSM1730431 c.1684A>T p.T562S Substitution - Missense 17:63693580-63693580 + TCGA-AP-A05N-01 COSM982649 c.730C>T p.R244* Substitution - Nonsense 17:63688546-63688546 + HN11PT COSM97948 c.157G>A p.G53R Substitution - Missense 17:63646064-63646064 + LUAD-CHTN-MAD06-00668 COSM359117 c.1012G>C p.A338P Substitution - Missense 17:63689684-63689684 + pfg019T COSM1640770 c.1667C>T p.T556I Substitution - Missense 17:63693563-63693563 + ZZUFHECRKL-G038T COSM5442470 c.167+10C>G p.? Unknown 17:63646084-63646084 + TCGA-FW-A3R5-06 COSM3890155 c.365C>T p.S122F Substitution - Missense 17:63657891-63657891 + 17320 COSM48528 c.1301G>T p.R434L Substitution - Missense 17:63691190-63691190 + TCGA-EE-A2MJ-06 COSM3520785 c.1696C>T p.P566S Substitution - Missense 17:63693592-63693592 + TCGA-D5-6929-01 COSM1385172 c.167G>A p.R56Q Substitution - Missense 17:63646074-63646074 + sysucc-783T COSM5484140 c.1675G>A p.E559K Substitution - Missense 17:63693571-63693571 + Gp5D COSM2795238 c.524G>A p.S175N Substitution - Missense 17:63681787-63681787 + TCGA-D9-A6EC-06 COSM4402371 c.1444A>T p.S482C Substitution - Missense 17:63691832-63691832 + TCGA-A6-2676-01 COSM291150 c.88A>T p.T30S Substitution - Missense 17:63632764-63632764 + T578 COSM4700338 c.1503G>A p.G501G Substitution - coding silent 17:63692270-63692270 + D22 COSM5007453 c.919A>C p.T307P Substitution - Missense 17:63689591-63689591 + PD9569a COSM5800380 c.201A>C p.E67D Substitution - Missense 17:63652590-63652590 + tumor_4163639 COSM1161199 c.704C>T p.A235V Substitution - Missense 17:63685584-63685584 + B89-4 COSM1750225 c.133G>A p.V45I Substitution - Missense 17:63646040-63646040 + 8058339 COSM3388084 c.1365G>A p.L455L Substitution - coding silent 17:63691753-63691753 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.29282 17q23.3 602539 2482137|CGAP|BC090859|C/G|non-coding||3113|Validated; 1517223|dbSNP|BC010464|G/T|non-coding||1652|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.N118S c.353A>G 17 61730009 CM A T IntronicSNV . c.1157-61A>T 17 61767563 NSCLC A T Missense p.N253Y c.757A>T 17 61762904 THCA A T SpliceAcceptorSNV . c.872-2A>T 17 61766147 SCLC C A Missense p.L447I c.1339C>A 17 61768495 OV CC TT Missense p.P203S c.606_607delinsTT 17 61759136 CM - C Frameshift p.E190Rfs*26 c.567dupC 17 61744387 THCA C G Missense p.R87G c.259C>G 17 61723433 CM C T Missense p.A266V c.797C>T 17 61762944 DLBCL C T Missense p.P208S c.622C>T 17 61759152 THCA C T Missense p.P597S c.1789C>T 17 61770952 CM C T Missense p.R628W c.1882C>T 17 61771045 LUAD C T Missense p.T587I c.1760C>T 17 61770923 STAD C T Synonymous p.D284D c.852C>T 17 61765935 LGG C T Synonymous p.D75D c.225C>T 17 61723399 MB C T Synonymous p.L245L c.733C>T 17 61762880 RCCC C T Synonymous p.L399L c.1195C>T 17 61767662 CM C T Synonymous p.P163P c.489C>T 17 61744314 CM C T Synonymous p.P191P c.573C>T 17 61744398 LUAD C T Synonymous p.Y458Y c.1374C>T 17 61768530 CM G A Missense p.D13N c.37G>A 17 61710073 STAD G A Missense p.E215K c.643G>A 17 61759173 THCA G A Missense p.R454H c.1361G>A 17 61768517 UCEC G A Missense p.R628Q c.1883G>A 17 61771046 COREAD G A Synonymous p.R380R c.1140G>A 17 61767079 BLCA G C Synonymous p.L470L c.1410G>C 17 61768566 BLCA G - Frameshift p.A541Pfs*25 c.1621delG 17 61769652 LUAD G - Frameshift p.A541Pfs*25 c.1621delG 17 61769655 LUAD G T Missense p.G460V c.1379G>T 17 61768535 LUAD G T Missense p.R394L c.1181G>T 17 61767648 LUAD G T Missense p.R394L c.1181G>T 17 61767648 LUSC G T Missense p.R465L c.1394G>T 17 61768550 LUAD T C IntronicSNV . c.4+3374T>C 17 61703497 CLL T C Missense p.S313P c.937T>C 17 61766214 UCEC T C Synonymous p.S160S c.480T>C 17 61744305 CM