Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 17 72281227 72281227 + Missense_Mutation SNP G G C TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr17:72281227G>C c.232G>C c.(232-234)Gag>Cag p.E78Q BLCA 17 72285798 72285798 + Nonsense_Mutation SNP T T A TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chr17:72285798T>A c.533T>A c.(532-534)tTg>tAg p.L178* BLCA 17 72285872 72285872 + Silent SNP C C T TCGA-DK-A3IU-01A-11D-A20D-08 TCGA-DK-A3IU-10A-01D-A20D-08 g.chr17:72285872C>T c.607C>T c.(607-609)Ctg>Ttg p.L203L BLCA 17 72287268 72287268 + Missense_Mutation SNP G G C TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr17:72287268G>C c.720G>C c.(718-720)caG>caC p.Q240H BLCA 17 72297244 72297244 + Silent SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr17:72297244C>T c.924C>T c.(922-924)atC>atT p.I308I BLCA 17 72297252 72297252 + Missense_Mutation SNP A A G TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr17:72297252A>G c.932A>G c.(931-933)aAg>aGg p.K311R BLCA 17 72301563 72301563 + Missense_Mutation SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr17:72301563C>T c.1193C>T c.(1192-1194)tCg>tTg p.S398L BLCA 17 72305492 72305492 + Missense_Mutation SNP A A C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr17:72305492A>C c.1312A>C c.(1312-1314)Atg>Ctg p.M438L BLCA 17 72308166 72308166 + Missense_Mutation SNP G G A TCGA-ZF-AA4W-01A-12D-A38G-08 TCGA-ZF-AA4W-10A-01D-A38J-08 g.chr17:72308166G>A c.1519G>A c.(1519-1521)Gag>Aag p.E507K BLCA 17 72308171 72308171 + Missense_Mutation SNP G G C TCGA-G2-A2ES-01A-11D-A17V-08 TCGA-G2-A2ES-11A-31D-A17V-08 g.chr17:72308171G>C c.1524G>C c.(1522-1524)aaG>aaC p.K508N BLCA 17 72308333 72308333 + Silent SNP G G A TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr17:72308333G>A c.1686G>A c.(1684-1686)aaG>aaA p.K562K BRCA 17 72283239 72283239 + Splice_Site DEL T T - TCGA-B6-A0IE-01A-11W-A050-09 TCGA-B6-A0IE-10A-01W-A055-09 g.chr17:72283239delT c.e4+2 BRCA 17 72308231 72308231 + Silent SNP G G A TCGA-EW-A1PB-01A-11D-A142-09 TCGA-EW-A1PB-10A-01D-A142-09 g.chr17:72308231G>A c.1584G>A c.(1582-1584)agG>agA p.R528R BRCA 17 72310298 72310298 + Silent SNP G G A TCGA-AR-A24R-01A-11D-A167-09 TCGA-AR-A24R-10A-01D-A167-09 g.chr17:72310298G>A c.1761G>A c.(1759-1761)gaG>gaA p.E587E CESC 17 72278037 72278037 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:72278037G>C c.81G>C c.(79-81)ctG>ctC p.L27L CESC 17 72278137 72278137 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:72278137G>T c.181G>T c.(181-183)Gag>Tag p.E61* CESC 17 72283153 72283153 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr17:72283153A>C c.383A>C c.(382-384)gAc>gCc p.D128A CESC 17 72283200 72283200 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr17:72283200G>C c.430G>C c.(430-432)Gag>Cag p.E144Q CESC 17 72285751 72285751 + Missense_Mutation SNP G G C TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr17:72285751G>C c.486G>C c.(484-486)aaG>aaC p.K162N CESC 17 72285876 72285876 + Splice_Site SNP G G T TCGA-LP-A4AX-01A-12D-A243-09 TCGA-LP-A4AX-10A-01D-A243-09 g.chr17:72285876G>T c.e5+1 CESC 17 72301440 72301440 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr17:72301440T>G c.1070T>G c.(1069-1071)gTg>gGg p.V357G CESC 17 72308204 72308204 + Silent SNP G G A TCGA-IR-A3LB-01A-11D-A243-09 TCGA-IR-A3LB-10A-01D-A243-09 g.chr17:72308204G>A c.1557G>A c.(1555-1557)ctG>ctA p.L519L CESC 17 72308359 72308359 + Missense_Mutation SNP C C T TCGA-C5-A1ML-01A-11D-A14W-08 TCGA-C5-A1ML-10A-01D-A14W-08 g.chr17:72308359C>T c.1712C>T c.(1711-1713)aCg>aTg p.T571M COAD 17 72277978 72277978 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:72277978G>A c.22G>A c.(22-24)Gtc>Atc p.V8I COAD 17 72277998 72277998 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:72277998C>T c.42C>T c.(40-42)ttC>ttT p.F14F COAD 17 72277999 72277999 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:72277999G>A c.43G>A c.(43-45)Ggg>Agg p.G15R COAD 17 72277999 72277999 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:72277999G>A c.43G>A c.(43-45)Ggg>Agg p.G15R COAD 17 72278079 72278079 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:72278079C>T c.123C>T c.(121-123)ttC>ttT p.F41F COAD 17 72281191 72281191 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:72281191C>T c.196C>T c.(196-198)Cgg>Tgg p.R66W COAD 17 72281320 72281320 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:72281320G>A c.325G>A c.(325-327)Gcc>Acc p.A109T COAD 17 72283120 72283120 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:72283120T>C c.350T>C c.(349-351)aTg>aCg p.M117T COAD 17 72285735 72285736 + Frame_Shift_Ins INS - - C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:72285735_72285736insC c.470_471insC c.(469-474)gaccccfs p.DP157fs COAD 17 72295986 72295986 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:72295986C>T c.854C>T c.(853-855)aCg>aTg p.T285M COAD 17 72297184 72297184 + Splice_Site SNP G G T TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr17:72297184G>T c.e8-1 COAD 17 72297264 72297264 + Missense_Mutation SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:72297264A>G c.944A>G c.(943-945)gAa>gGa p.E315G COAD 17 72301382 72301382 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:72301382G>A c.1012G>A c.(1012-1014)Gag>Aag p.E338K COAD 17 72306157 72306157 + Splice_Site SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr17:72306157T>C c.1349T>C c.(1348-1350)gTg>gCg p.V450A COAD 17 72306209 72306209 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:72306209C>T c.1401C>T c.(1399-1401)atC>atT p.I467I COAD 17 72306255 72306255 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:72306255C>T c.1447C>T c.(1447-1449)Cct>Tct p.P483S COAD 17 72310304 72310304 + Missense_Mutation SNP G G T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:72310304G>T c.1767G>T c.(1765-1767)gaG>gaT p.E589D COADREAD 17 72277978 72277978 + Missense_Mutation SNP G G A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr17:72277978G>A c.22G>A c.(22-24)Gtc>Atc p.V8I COADREAD 17 72277998 72277998 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:72277998C>T c.42C>T c.(40-42)ttC>ttT p.F14F COADREAD 17 72277999 72277999 + Missense_Mutation SNP G G A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:72277999G>A c.43G>A c.(43-45)Ggg>Agg p.G15R COADREAD 17 72277999 72277999 + Missense_Mutation SNP G G A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr17:72277999G>A c.43G>A c.(43-45)Ggg>Agg p.G15R COADREAD 17 72278079 72278079 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr17:72278079C>T c.123C>T c.(121-123)ttC>ttT p.F41F COADREAD 17 72281191 72281191 + Missense_Mutation SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:72281191C>T c.196C>T c.(196-198)Cgg>Tgg p.R66W COADREAD 17 72281320 72281320 + Missense_Mutation SNP G G A TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:72281320G>A c.325G>A c.(325-327)Gcc>Acc p.A109T COADREAD 17 72283120 72283120 + Missense_Mutation SNP T T C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:72283120T>C c.350T>C c.(349-351)aTg>aCg p.M117T COADREAD 17 72285735 72285736 + Frame_Shift_Ins INS - - C TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr17:72285735_72285736insC c.470_471insC c.(469-474)gaccccfs p.DP157fs COADREAD 17 72295954 72295954 + Silent SNP G G A TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr17:72295954G>A c.822G>A c.(820-822)tcG>tcA p.S274S COADREAD 17 72295986 72295986 + Missense_Mutation SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:72295986C>T c.854C>T c.(853-855)aCg>aTg p.T285M COADREAD 17 72297184 72297184 + Splice_Site SNP G G T TCGA-CA-6715-01A-21D-1835-10 TCGA-CA-6715-10A-01D-1835-10 g.chr17:72297184G>T c.e8-1 COADREAD 17 72297264 72297264 + Missense_Mutation SNP A A G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr17:72297264A>G c.944A>G c.(943-945)gAa>gGa p.E315G COADREAD 17 72301382 72301382 + Missense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr17:72301382G>A c.1012G>A c.(1012-1014)Gag>Aag p.E338K COADREAD 17 72306157 72306157 + Splice_Site SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr17:72306157T>C c.1349T>C c.(1348-1350)gTg>gCg p.V450A COADREAD 17 72306209 72306209 + Silent SNP C C T TCGA-A6-6780-01A-11D-1835-10 TCGA-A6-6780-10A-01D-1835-10 g.chr17:72306209C>T c.1401C>T c.(1399-1401)atC>atT p.I467I COADREAD 17 72306255 72306255 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr17:72306255C>T c.1447C>T c.(1447-1449)Cct>Tct p.P483S COADREAD 17 72310304 72310304 + Missense_Mutation SNP G G T TCGA-AA-A01Q-01A-01W-A005-10 TCGA-AA-A01Q-10A-01W-A005-10 g.chr17:72310304G>T c.1767G>T c.(1765-1767)gaG>gaT p.E589D DLBC 17 72287205 72287205 + Silent SNP C C T TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr17:72287205C>T c.657C>T c.(655-657)ctC>ctT p.L219L DLBC 17 72306239 72306239 + Silent SNP C C G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr17:72306239C>G c.1431C>G c.(1429-1431)acC>acG p.T477T ESCA 17 72278122 72278122 + Missense_Mutation SNP A A G TCGA-LN-A8HZ-01A-11D-A36J-09 TCGA-LN-A8HZ-10A-01D-A36M-09 g.chr17:72278122A>G c.166A>G c.(166-168)Agc>Ggc p.S56G ESCA 17 72301522 72301522 + Silent SNP C C T TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr17:72301522C>T c.1152C>T c.(1150-1152)ggC>ggT p.G384G GBM 17 72283178 72283178 + Silent SNP C C T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr17:72283178C>T c.408C>T c.(406-408)gaC>gaT p.D136D GBM 17 72308276 72308276 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr17:72308276G>A c.1629G>A c.(1627-1629)gcG>gcA p.A543A GBMLGG 17 72278016 72278016 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:72278016C>A c.60C>A c.(58-60)ttC>ttA p.F20L GBMLGG 17 72283178 72283178 + Silent SNP C C T TCGA-19-4068-01A-01D-1353-08 TCGA-19-4068-10A-01D-1353-08 g.chr17:72283178C>T c.408C>T c.(406-408)gaC>gaT p.D136D GBMLGG 17 72297261 72297261 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:72297261T>G c.941T>G c.(940-942)tTg>tGg p.L314W GBMLGG 17 72301394 72301394 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 g.chr17:72301394G>A c.1024G>A c.(1024-1026)Gtc>Atc p.V342I GBMLGG 17 72308276 72308276 + Silent SNP G G A TCGA-27-2518-01A-01D-1494-08 TCGA-27-2518-10A-01D-1494-08 g.chr17:72308276G>A c.1629G>A c.(1627-1629)gcG>gcA p.A543A HNSC 17 72278070 72278070 + Silent SNP C C A TCGA-CN-6988-01A-11D-1912-08 TCGA-CN-6988-10A-01D-1912-08 g.chr17:72278070C>A c.114C>A c.(112-114)gcC>gcA p.A38A HNSC 17 72285736 72285736 + Silent SNP C C T TCGA-CV-7250-01A-11D-2012-08 TCGA-CV-7250-10A-01D-2013-08 g.chr17:72285736C>T c.471C>T c.(469-471)gaC>gaT p.D157D HNSC 17 72301505 72301505 + Missense_Mutation SNP A A T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr17:72301505A>T c.1135A>T c.(1135-1137)Aac>Tac p.N379Y HNSC 17 72308160 72308160 + Missense_Mutation SNP C C T TCGA-P3-A5QA-01A-11D-A28R-08 TCGA-P3-A5QA-10A-01D-A28U-08 g.chr17:72308160C>T c.1513C>T c.(1513-1515)Cgg>Tgg p.R505W HNSC 17 72308173 72308173 + Missense_Mutation SNP T T A TCGA-CR-7365-01A-11D-2012-08 TCGA-CR-7365-10A-01D-2013-08 g.chr17:72308173T>A c.1526T>A c.(1525-1527)aTc>aAc p.I509N HNSC 17 72310278 72310278 + Missense_Mutation SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr17:72310278G>A c.1741G>A c.(1741-1743)Gaa>Aaa p.E581K KICH 17 72306262 72306262 + Missense_Mutation SNP T T C TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr17:72306262T>C c.1454T>C c.(1453-1455)cTc>cCc p.L485P KIPAN 17 72306227 72306227 + Silent SNP G G T TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr17:72306227G>T c.1419G>T c.(1417-1419)ctG>ctT p.L473L KIPAN 17 72306262 72306262 + Missense_Mutation SNP T T C TCGA-KL-8324-01A-11D-2310-10 TCGA-KL-8324-11A-01D-2310-10 g.chr17:72306262T>C c.1454T>C c.(1453-1455)cTc>cCc p.L485P KIRP 17 72306227 72306227 + Silent SNP G G T TCGA-P4-A5E8-01A-11D-A28G-10 TCGA-P4-A5E8-11A-12D-A28G-10 g.chr17:72306227G>T c.1419G>T c.(1417-1419)ctG>ctT p.L473L LGG 17 72278016 72278016 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:72278016C>A c.60C>A c.(58-60)ttC>ttA p.F20L LGG 17 72297261 72297261 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:72297261T>G c.941T>G c.(940-942)tTg>tGg p.L314W LGG 17 72301394 72301394 + Missense_Mutation SNP G G A TCGA-HT-7477-01B-11D-A289-08 TCGA-HT-7477-10A-01D-A289-08 g.chr17:72301394G>A c.1024G>A c.(1024-1026)Gtc>Atc p.V342I LIHC 17 72281284 72281284 + Missense_Mutation SNP C C T TCGA-DD-A4NF-01A-11D-A27I-10 TCGA-DD-A4NF-10A-01D-A27I-10 g.chr17:72281284C>T c.289C>T c.(289-291)Cgg>Tgg p.R97W LIHC 17 72285791 72285791 + Missense_Mutation SNP A A G TCGA-DD-A3A9-01A-11D-A25V-10 TCGA-DD-A3A9-11A-11D-A25V-10 g.chr17:72285791A>G c.526A>G c.(526-528)Agg>Ggg p.R176G LIHC 17 72285824 72285824 + Missense_Mutation SNP T T A TCGA-DD-AADV-01A-11D-A38X-10 TCGA-DD-AADV-10A-01D-A38X-10 g.chr17:72285824T>A c.559T>A c.(559-561)Ttt>Att p.F187I LUAD 17 72277987 72277987 + Missense_Mutation SNP C C A TCGA-64-5778-01A-01D-1625-08 TCGA-64-5778-10A-01D-1625-08 g.chr17:72277987C>A c.31C>A c.(31-33)Cgc>Agc p.R11S LUAD 17 72277988 72277988 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr17:72277988G>T c.32G>T c.(31-33)cGc>cTc p.R11L LUAD 17 72278023 72278023 + Missense_Mutation SNP C C A TCGA-78-7147-01A-11D-2036-08 TCGA-78-7147-10A-01D-2036-08 g.chr17:72278023C>A c.67C>A c.(67-69)Cgc>Agc p.R23S LUAD 17 72278023 72278023 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr17:72278023C>G c.67C>G c.(67-69)Cgc>Ggc p.R23G LUAD 17 72281229 72281229 + Frame_Shift_Del DEL G G - TCGA-17-Z032-01A-01W-0746-08 TCGA-17-Z032-11A-01W-0746-08 g.chr17:72281229delG c.234delG c.(232-234)gagfs p.E78fs LUAD 17 72281270 72281270 + Missense_Mutation SNP A A T TCGA-50-6594-01A-11D-1753-08 TCGA-50-6594-11A-01D-1753-08 g.chr17:72281270A>T c.275A>T c.(274-276)cAg>cTg p.Q92L LUAD 17 72283194 72283194 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr17:72283194G>T c.424G>T c.(424-426)Gtg>Ttg p.V142L LUAD 17 72285814 72285814 + Silent SNP C C A TCGA-05-4397-01A-01D-1265-08 TCGA-05-4397-10A-01D-1265-08 g.chr17:72285814C>A c.549C>A c.(547-549)tcC>tcA p.S183S LUAD 17 72287186 72287186 + Missense_Mutation SNP T T A TCGA-91-6847-01A-11D-1945-08 TCGA-91-6847-11A-01D-1945-08 g.chr17:72287186T>A c.638T>A c.(637-639)cTg>cAg p.L213Q LUAD 17 72287239 72287239 + Missense_Mutation SNP G G T TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr17:72287239G>T c.691G>T c.(691-693)Gta>Tta p.V231L LUAD 17 72297197 72297197 + Missense_Mutation SNP G G A TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr17:72297197G>A c.877G>A c.(877-879)Gac>Aac p.D293N LUAD 17 72297275 72297275 + Missense_Mutation SNP G G T TCGA-69-7765-01A-11D-2167-08 TCGA-69-7765-10A-01D-2167-08 g.chr17:72297275G>T c.955G>T c.(955-957)Ggg>Tgg p.G319W LUAD 17 72297276 72297276 + Missense_Mutation SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr17:72297276G>T c.956G>T c.(955-957)gGg>gTg p.G319V LUAD 17 72301377 72301377 + Missense_Mutation SNP G G A TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr17:72301377G>A c.1007G>A c.(1006-1008)gGg>gAg p.G336E LUAD 17 72301535 72301535 + Missense_Mutation SNP C C T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr17:72301535C>T c.1165C>T c.(1165-1167)Cgc>Tgc p.R389C LUAD 17 72301536 72301536 + Missense_Mutation SNP G G T TCGA-55-7283-01A-11D-2036-08 TCGA-55-7283-10A-01D-2036-08 g.chr17:72301536G>T c.1166G>T c.(1165-1167)cGc>cTc p.R389L LUAD 17 72301559 72301559 + Nonsense_Mutation SNP G G T TCGA-50-5941-01A-11D-1753-08 TCGA-50-5941-10A-01D-1753-08 g.chr17:72301559G>T c.1189G>T c.(1189-1191)Gaa>Taa p.E397* LUAD 17 72308174 72308174 + Silent SNP C C T TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr17:72308174C>T c.1527C>T c.(1525-1527)atC>atT p.I509I LUAD 17 72308204 72308204 + Silent SNP G G T TCGA-44-7662-01A-11D-2063-08 TCGA-44-7662-10A-01D-2063-08 g.chr17:72308204G>T c.1557G>T c.(1555-1557)ctG>ctT p.L519L LUAD 17 72310295 72310295 + Missense_Mutation SNP G G T TCGA-05-4417-01A-22D-1855-08 TCGA-05-4417-10A-01D-1855-08 g.chr17:72310295G>T c.1758G>T c.(1756-1758)gaG>gaT p.E586D LUAD 17 72310318 72310318 + Missense_Mutation SNP A A G TCGA-95-A4VN-01A-11D-A25L-08 TCGA-95-A4VN-10A-01D-A25L-08 g.chr17:72310318A>G c.1781A>G c.(1780-1782)gAa>gGa p.E594G LUSC 17 72285829 72285829 + Missense_Mutation SNP G G T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr17:72285829G>T c.564G>T c.(562-564)caG>caT p.Q188H LUSC 17 72285877 72285877 + Splice_Site SNP T T A TCGA-70-6722-01A-11D-1817-08 TCGA-70-6722-10A-01D-1817-08 g.chr17:72285877T>A c.e5+2 LUSC 17 72305467 72305467 + Silent SNP C C T TCGA-22-5478-01A-01D-1632-08 TCGA-22-5478-11A-11D-1632-08 g.chr17:72305467C>T c.1287C>T c.(1285-1287)gaC>gaT p.D429D LUSC 17 72308155 72308155 + Missense_Mutation SNP A A T TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr17:72308155A>T c.1508A>T c.(1507-1509)gAg>gTg p.E503V LUSC 17 72310317 72310317 + Missense_Mutation SNP G G A TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr17:72310317G>A c.1780G>A c.(1780-1782)Gaa>Aaa p.E594K OV 17 72278098 72278098 + Missense_Mutation SNP G G C TCGA-13-1408-01A-01W-0490-10 TCGA-13-1408-10A-01W-0491-10 g.chr17:72278098G>C c.142G>C c.(142-144)Gac>Cac p.D48H OV 17 72285862 72285862 + Silent SNP C C T TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr17:72285862C>T c.597C>T c.(595-597)taC>taT p.Y199Y OV 17 72301457 72301457 + Missense_Mutation SNP C C T TCGA-13-1496-01A-01W-0545-08 TCGA-13-1496-10A-01W-0545-08 g.chr17:72301457C>T c.1087C>T c.(1087-1089)Cat>Tat p.H363Y PAAD 17 72301399 72301399 + Silent SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:72301399C>A c.1029C>A c.(1027-1029)atC>atA p.I343I PAAD 17 72308348 72308348 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:72308348C>T c.1701C>T c.(1699-1701)gcC>gcT p.A567A PCPG 17 72285858 72285858 + Nonsense_Mutation SNP C C A TCGA-QR-A70V-01A-11D-A35D-08 TCGA-QR-A70V-10A-01D-A35B-08 g.chr17:72285858C>A c.593C>A c.(592-594)tCa>tAa p.S198* PRAD 17 72306164 72306164 + Silent SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:72306164C>T c.1356C>T c.(1354-1356)gaC>gaT p.D452D READ 17 72295954 72295954 + Silent SNP G G A TCGA-DC-6155-01A-11D-1657-10 TCGA-DC-6155-10A-01D-1657-10 g.chr17:72295954G>A c.822G>A c.(820-822)tcG>tcA p.S274S SARC 17 72285741 72285741 + Missense_Mutation SNP A A G TCGA-KD-A5QU-01A-11D-A27P-09 TCGA-KD-A5QU-10A-01D-A27P-09 g.chr17:72285741A>G c.476A>G c.(475-477)cAg>cGg p.Q159R SARC 17 72308191 72308191 + Missense_Mutation SNP G G A TCGA-DX-A23Y-01A-11D-A27P-09 TCGA-DX-A23Y-10A-01D-A27P-09 g.chr17:72308191G>A c.1544G>A c.(1543-1545)cGg>cAg p.R515Q SKCM 17 72278044 72278044 + Missense_Mutation SNP G G A TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr17:72278044G>A c.88G>A c.(88-90)Gac>Aac p.D30N SKCM 17 72278045 72278045 + Missense_Mutation SNP A A G TCGA-FS-A1ZY-06A-11D-A197-08 TCGA-FS-A1ZY-10A-01D-A199-08 g.chr17:72278045A>G c.89A>G c.(88-90)gAc>gGc p.D30G SKCM 17 72278110 72278110 + Nonsense_Mutation SNP C C T TCGA-EE-A2MS-06A-11D-A197-08 TCGA-EE-A2MS-10A-01D-A199-08 g.chr17:72278110C>T c.154C>T c.(154-156)Cag>Tag p.Q52* SKCM 17 72281237 72281237 + Nonsense_Mutation SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr17:72281237G>A c.242G>A c.(241-243)tGg>tAg p.W81* SKCM 17 72287263 72287263 + Missense_Mutation SNP G G A TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr17:72287263G>A c.715G>A c.(715-717)Gga>Aga p.G239R SKCM 17 72295967 72295967 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:72295967G>A c.835G>A c.(835-837)Gag>Aag p.E279K SKCM 17 72301378 72301378 + Silent SNP G G A TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr17:72301378G>A c.1008G>A c.(1006-1008)ggG>ggA p.G336G SKCM 17 72301382 72301382 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr17:72301382G>A c.1012G>A c.(1012-1014)Gag>Aag p.E338K SKCM 17 72301464 72301464 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:72301464G>A c.1094G>A c.(1093-1095)gGc>gAc p.G365D SKCM 17 72305472 72305472 + Missense_Mutation SNP C C T TCGA-FS-A1ZC-06A-11D-A197-08 TCGA-FS-A1ZC-10A-01D-A199-08 g.chr17:72305472C>T c.1292C>T c.(1291-1293)aCc>aTc p.T431I SKCM 17 72305507 72305507 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:72305507G>A c.1327G>A c.(1327-1329)Gat>Aat p.D443N SKCM 17 72305515 72305515 + Silent SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr17:72305515C>T c.1335C>T c.(1333-1335)acC>acT p.T445T SKCM 17 72308161 72308161 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr17:72308161G>A c.1514G>A c.(1513-1515)cGg>cAg p.R505Q SKCM 17 72308208 72308208 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr17:72308208G>A c.1561G>A c.(1561-1563)Gag>Aag p.E521K SKCM 17 72308292 72308292 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr17:72308292G>A c.1645G>A c.(1645-1647)Gag>Aag p.E549K

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 72297224 72297224 single base substitution G A 3_prime_UTR_variant BLCA-CN 17 72297224 72297224 single base substitution G A missense_variant E159K 475G>A BLCA-CN 17 72297224 72297224 single base substitution G A missense_variant E302K 904G>A BLCA-CN 17 72297224 72297224 single base substitution G A missense_variant E359K 1075G>A BLCA-US 17 72281227 72281227 single base substitution G C 5_prime_UTR_variant BLCA-US 17 72281227 72281227 single base substitution G C exon_variant BLCA-US 17 72281227 72281227 single base substitution G C missense_variant E135Q 403G>C BLCA-US 17 72281227 72281227 single base substitution G C missense_variant E78Q 232G>C BLCA-US 17 72285872 72285872 single base substitution C T exon_variant BLCA-US 17 72285872 72285872 single base substitution C T synonymous_variant L203L 607C>T BLCA-US 17 72285872 72285872 single base substitution C T synonymous_variant L260L 778C>T BLCA-US 17 72285872 72285872 single base substitution C T synonymous_variant L60L 178C>T BLCA-US 17 72297244 72297244 single base substitution C T 3_prime_UTR_variant BLCA-US 17 72297244 72297244 single base substitution C T synonymous_variant I165I 495C>T BLCA-US 17 72297244 72297244 single base substitution C T synonymous_variant I308I 924C>T BLCA-US 17 72297244 72297244 single base substitution C T synonymous_variant I365I 1095C>T BLCA-US 17 72297252 72297252 single base substitution A G 3_prime_UTR_variant BLCA-US 17 72297252 72297252 single base substitution A G missense_variant K168R 503A>G BLCA-US 17 72297252 72297252 single base substitution A G missense_variant K311R 932A>G BLCA-US 17 72297252 72297252 single base substitution A G missense_variant K368R 1103A>G BLCA-US 17 72301563 72301563 single base substitution C T 3_prime_UTR_variant BLCA-US 17 72301563 72301563 single base substitution C T missense_variant S255L 764C>T BLCA-US 17 72301563 72301563 single base substitution C T missense_variant S398L 1193C>T BLCA-US 17 72301563 72301563 single base substitution C T missense_variant S455L 1364C>T BLCA-US 17 72308171 72308171 single base substitution G C 3_prime_UTR_variant BLCA-US 17 72308171 72308171 single base substitution G C missense_variant K365N 1095G>C BLCA-US 17 72308171 72308171 single base substitution G C missense_variant K496N 1488G>C BLCA-US 17 72308171 72308171 single base substitution G C missense_variant K508N 1524G>C BLCA-US 17 72308171 72308171 single base substitution G C missense_variant K565N 1695G>C BLCA-US 17 72308171 72308171 single base substitution G C upstream_gene_variant BRCA-EU 17 72265477 72265477 single base substitution G C upstream_gene_variant BRCA-EU 17 72265851 72265851 single base substitution G T upstream_gene_variant BRCA-EU 17 72266321 72266321 single base substitution A G upstream_gene_variant BRCA-EU 17 72266448 72266448 single base substitution A G upstream_gene_variant BRCA-EU 17 72268609 72268609 single base substitution C T upstream_gene_variant BRCA-EU 17 72268733 72268733 single base substitution G A upstream_gene_variant BRCA-EU 17 72268846 72268846 single base substitution C T upstream_gene_variant BRCA-EU 17 72269044 72269044 single base substitution C T upstream_gene_variant BRCA-EU 17 72269884 72269884 single base substitution C T upstream_gene_variant BRCA-EU 17 72271773 72271773 single base substitution G A intron_variant BRCA-EU 17 72272519 72272519 single base substitution G T intron_variant BRCA-EU 17 72272636 72272636 single base substitution T G intron_variant BRCA-EU 17 72272768 72272768 single base substitution G C intron_variant BRCA-EU 17 72272768 72272768 single base substitution G C upstream_gene_variant BRCA-EU 17 72273541 72273541 deletion of <=200bp G - intron_variant BRCA-EU 17 72273541 72273541 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 72273652 72273652 single base substitution A C intron_variant BRCA-EU 17 72273652 72273652 single base substitution A C upstream_gene_variant BRCA-EU 17 72274609 72274609 single base substitution G C intron_variant BRCA-EU 17 72274609 72274609 single base substitution G C upstream_gene_variant BRCA-EU 17 72276454 72276454 single base substitution G T intron_variant BRCA-EU 17 72276454 72276454 single base substitution G T upstream_gene_variant BRCA-EU 17 72277419 72277419 single base substitution A G intron_variant BRCA-EU 17 72277419 72277419 single base substitution A G upstream_gene_variant BRCA-EU 17 72278832 72278832 single base substitution G C intron_variant BRCA-EU 17 72280354 72280354 single base substitution C T intron_variant BRCA-EU 17 72281760 72281760 single base substitution G C intron_variant BRCA-EU 17 72282032 72282032 single base substitution G T intron_variant BRCA-EU 17 72283264 72283264 single base substitution G T intron_variant BRCA-EU 17 72285336 72285336 single base substitution C T intron_variant BRCA-EU 17 72287955 72287955 single base substitution G C intron_variant BRCA-EU 17 72288466 72288466 single base substitution C G intron_variant BRCA-EU 17 72289145 72289145 deletion of <=200bp T - intron_variant BRCA-EU 17 72289558 72289558 single base substitution C G intron_variant BRCA-EU 17 72290036 72290036 single base substitution C T intron_variant BRCA-EU 17 72290533 72290533 single base substitution C G intron_variant BRCA-EU 17 72290879 72290879 single base substitution C A intron_variant BRCA-EU 17 72291699 72291699 single base substitution C A intron_variant BRCA-EU 17 72291741 72291741 single base substitution C T intron_variant BRCA-EU 17 72292330 72292330 single base substitution G T intron_variant BRCA-EU 17 72292819 72292819 single base substitution G T intron_variant BRCA-EU 17 72292887 72292887 single base substitution G C intron_variant BRCA-EU 17 72295152 72295152 single base substitution C G intron_variant BRCA-EU 17 72296024 72296024 single base substitution G C intron_variant BRCA-EU 17 72296883 72296883 single base substitution G T intron_variant BRCA-EU 17 72297583 72297583 single base substitution A G intron_variant BRCA-EU 17 72299206 72299206 single base substitution C T intron_variant BRCA-EU 17 72300041 72300041 single base substitution G T intron_variant BRCA-EU 17 72300769 72300769 single base substitution G A intron_variant BRCA-EU 17 72301495 72301495 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 72301495 72301495 single base substitution C G missense_variant F232L 696C>G BRCA-EU 17 72301495 72301495 single base substitution C G missense_variant F375L 1125C>G BRCA-EU 17 72301495 72301495 single base substitution C G missense_variant F432L 1296C>G BRCA-EU 17 72301708 72301708 single base substitution C T intron_variant BRCA-EU 17 72301951 72301951 single base substitution C G intron_variant BRCA-EU 17 72302327 72302327 single base substitution G T intron_variant BRCA-EU 17 72302355 72302355 single base substitution G C intron_variant BRCA-EU 17 72302625 72302625 single base substitution G C intron_variant BRCA-EU 17 72302689 72302689 single base substitution G A intron_variant BRCA-EU 17 72303270 72303270 single base substitution C T intron_variant BRCA-EU 17 72303839 72303839 single base substitution T A intron_variant BRCA-EU 17 72303857 72303857 single base substitution T A intron_variant BRCA-EU 17 72304438 72304438 single base substitution T A intron_variant BRCA-EU 17 72307252 72307252 single base substitution A G intron_variant BRCA-EU 17 72307252 72307252 single base substitution A G upstream_gene_variant BRCA-EU 17 72307675 72307675 single base substitution G A intron_variant BRCA-EU 17 72307675 72307675 single base substitution G A upstream_gene_variant BRCA-EU 17 72307795 72307795 single base substitution G A intron_variant BRCA-EU 17 72307795 72307795 single base substitution G A upstream_gene_variant BRCA-EU 17 72308164 72308164 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 72308164 72308164 single base substitution G A missense_variant R363Q 1088G>A BRCA-EU 17 72308164 72308164 single base substitution G A missense_variant R494Q 1481G>A BRCA-EU 17 72308164 72308164 single base substitution G A missense_variant R506Q 1517G>A BRCA-EU 17 72308164 72308164 single base substitution G A missense_variant R563Q 1688G>A BRCA-EU 17 72308164 72308164 single base substitution G A upstream_gene_variant BRCA-EU 17 72309154 72309154 single base substitution C T intron_variant BRCA-EU 17 72309154 72309154 single base substitution C T upstream_gene_variant BRCA-EU 17 72310111 72310111 single base substitution G A exon_variant BRCA-EU 17 72310111 72310111 single base substitution G A intron_variant BRCA-EU 17 72310302 72310302 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 72310302 72310302 single base substitution G C exon_variant BRCA-EU 17 72310302 72310302 single base substitution G C missense_variant E577Q 1729G>C BRCA-EU 17 72310302 72310302 single base substitution G C missense_variant E589Q 1765G>C BRCA-EU 17 72310302 72310302 single base substitution G C missense_variant E646Q 1936G>C BRCA-EU 17 72310302 72310302 single base substitution G C missense_variant R394T 1181G>C BRCA-EU 17 72310347 72310347 single base substitution T A 3_prime_UTR_variant BRCA-EU 17 72310347 72310347 single base substitution T A exon_variant BRCA-EU 17 72310347 72310347 single base substitution T A missense_variant L592I 1774T>A BRCA-EU 17 72310347 72310347 single base substitution T A missense_variant L604I 1810T>A BRCA-EU 17 72310347 72310347 single base substitution T A missense_variant L661I 1981T>A BRCA-EU 17 72310679 72310679 single base substitution C G intron_variant BRCA-EU 17 72310764 72310764 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 72310764 72310764 single base substitution C T exon_variant BRCA-EU 17 72310857 72310857 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 72310857 72310857 single base substitution G A exon_variant BRCA-EU 17 72311074 72311074 single base substitution C T downstream_gene_variant BRCA-EU 17 72311645 72311645 insertion of <=200bp - AATGGC downstream_gene_variant BRCA-EU 17 72311801 72311801 single base substitution A G downstream_gene_variant BRCA-EU 17 72311819 72311819 single base substitution C T downstream_gene_variant BRCA-EU 17 72312493 72312493 single base substitution G C downstream_gene_variant BRCA-EU 17 72312610 72312610 single base substitution C T downstream_gene_variant BRCA-EU 17 72313019 72313019 single base substitution G C downstream_gene_variant BRCA-EU 17 72313460 72313460 single base substitution G T downstream_gene_variant BRCA-EU 17 72313751 72313751 single base substitution T A downstream_gene_variant BRCA-EU 17 72314019 72314019 single base substitution C G downstream_gene_variant BRCA-EU 17 72314196 72314196 single base substitution T C downstream_gene_variant BRCA-EU 17 72314241 72314241 single base substitution G C downstream_gene_variant BRCA-EU 17 72314801 72314801 single base substitution G C downstream_gene_variant BRCA-EU 17 72315054 72315054 single base substitution G T downstream_gene_variant BRCA-EU 17 72315356 72315356 single base substitution G A downstream_gene_variant BRCA-EU 17 72315365 72315365 single base substitution G A downstream_gene_variant BRCA-EU 17 72315977 72315977 single base substitution C G downstream_gene_variant BRCA-FR 17 72266505 72266505 single base substitution C A upstream_gene_variant BRCA-FR 17 72268609 72268609 single base substitution C T upstream_gene_variant BRCA-FR 17 72278832 72278832 single base substitution G C intron_variant BRCA-FR 17 72281044 72281044 single base substitution G C intron_variant BRCA-FR 17 72287955 72287955 single base substitution G C intron_variant BRCA-FR 17 72293053 72293053 single base substitution T C intron_variant BRCA-FR 17 72302689 72302689 single base substitution G A intron_variant BRCA-FR 17 72308164 72308164 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 72308164 72308164 single base substitution G A missense_variant R363Q 1088G>A BRCA-FR 17 72308164 72308164 single base substitution G A missense_variant R494Q 1481G>A BRCA-FR 17 72308164 72308164 single base substitution G A missense_variant R506Q 1517G>A BRCA-FR 17 72308164 72308164 single base substitution G A missense_variant R563Q 1688G>A BRCA-FR 17 72308164 72308164 single base substitution G A upstream_gene_variant BRCA-FR 17 72310347 72310347 single base substitution T A 3_prime_UTR_variant BRCA-FR 17 72310347 72310347 single base substitution T A exon_variant BRCA-FR 17 72310347 72310347 single base substitution T A missense_variant L592I 1774T>A BRCA-FR 17 72310347 72310347 single base substitution T A missense_variant L604I 1810T>A BRCA-FR 17 72310347 72310347 single base substitution T A missense_variant L661I 1981T>A BRCA-FR 17 72310857 72310857 single base substitution G A 3_prime_UTR_variant BRCA-FR 17 72310857 72310857 single base substitution G A exon_variant BRCA-FR 17 72312610 72312610 single base substitution C T downstream_gene_variant BRCA-FR 17 72314019 72314019 single base substitution C G downstream_gene_variant BRCA-FR 17 72314196 72314196 single base substitution T C downstream_gene_variant BRCA-FR 17 72315365 72315365 single base substitution G A downstream_gene_variant BRCA-UK 17 72268203 72268203 single base substitution G A upstream_gene_variant BRCA-UK 17 72288466 72288466 single base substitution C G intron_variant BRCA-UK 17 72289558 72289558 single base substitution C G intron_variant BRCA-UK 17 72290533 72290533 single base substitution C G intron_variant BRCA-UK 17 72291699 72291699 single base substitution C A intron_variant BRCA-UK 17 72293220 72293220 single base substitution G T intron_variant BRCA-UK 17 72295152 72295152 single base substitution C G intron_variant BRCA-UK 17 72315054 72315054 single base substitution G T downstream_gene_variant BRCA-US 17 72283239 72283239 deletion of <=200bp T - intron_variant BRCA-US 17 72283239 72283239 deletion of <=200bp T - splice_donor_variant BRCA-US 17 72308231 72308231 single base substitution G A intron_variant BRCA-US 17 72308231 72308231 single base substitution G A synonymous_variant R516R 1548G>A BRCA-US 17 72308231 72308231 single base substitution G A synonymous_variant R528R 1584G>A BRCA-US 17 72308231 72308231 single base substitution G A synonymous_variant R585R 1755G>A BRCA-US 17 72308231 72308231 single base substitution G A upstream_gene_variant BRCA-US 17 72310298 72310298 single base substitution G A 3_prime_UTR_variant BRCA-US 17 72310298 72310298 single base substitution G A exon_variant BRCA-US 17 72310298 72310298 single base substitution G A missense_variant G393R 1177G>A BRCA-US 17 72310298 72310298 single base substitution G A synonymous_variant E575E 1725G>A BRCA-US 17 72310298 72310298 single base substitution G A synonymous_variant E587E 1761G>A BRCA-US 17 72310298 72310298 single base substitution G A synonymous_variant E644E 1932G>A BTCA-JP 17 72285908 72285908 single base substitution G T intron_variant BTCA-JP 17 72308201 72308201 single base substitution G A 3_prime_UTR_variant BTCA-JP 17 72308201 72308201 single base substitution G A synonymous_variant R375R 1125G>A BTCA-JP 17 72308201 72308201 single base substitution G A synonymous_variant R506R 1518G>A BTCA-JP 17 72308201 72308201 single base substitution G A synonymous_variant R518R 1554G>A BTCA-JP 17 72308201 72308201 single base substitution G A synonymous_variant R575R 1725G>A BTCA-JP 17 72308201 72308201 single base substitution G A upstream_gene_variant BTCA-JP 17 72310314 72310314 single base substitution G T 3_prime_UTR_variant BTCA-JP 17 72310314 72310314 single base substitution G T exon_variant BTCA-JP 17 72310314 72310314 single base substitution G T missense_variant G398V 1193G>T BTCA-JP 17 72310314 72310314 single base substitution G T missense_variant G581W 1741G>T BTCA-JP 17 72310314 72310314 single base substitution G T missense_variant G593W 1777G>T BTCA-JP 17 72310314 72310314 single base substitution G T missense_variant G650W 1948G>T CESC-US 17 72278037 72278037 single base substitution G C 5_prime_UTR_variant CESC-US 17 72278037 72278037 single base substitution G C exon_variant CESC-US 17 72278037 72278037 single base substitution G C synonymous_variant L27L 81G>C CESC-US 17 72278037 72278037 single base substitution G C synonymous_variant L84L 252G>C CESC-US 17 72278137 72278137 single base substitution G T splice_region_variant CESC-US 17 72278137 72278137 single base substitution G T stop_gained E118* 352G>T CESC-US 17 72278137 72278137 single base substitution G T stop_gained E61* 181G>T CESC-US 17 72283153 72283153 single base substitution A C intron_variant CESC-US 17 72283153 72283153 single base substitution A C missense_variant D128A 383A>C CESC-US 17 72283153 72283153 single base substitution A C missense_variant D185A 554A>C CESC-US 17 72283200 72283200 single base substitution G C intron_variant CESC-US 17 72283200 72283200 single base substitution G C missense_variant E144Q 430G>C CESC-US 17 72283200 72283200 single base substitution G C missense_variant E201Q 601G>C CESC-US 17 72285751 72285751 single base substitution G C exon_variant CESC-US 17 72285751 72285751 single base substitution G C missense_variant K162N 486G>C CESC-US 17 72285751 72285751 single base substitution G C missense_variant K19N 57G>C CESC-US 17 72285751 72285751 single base substitution G C missense_variant K219N 657G>C CESC-US 17 72285876 72285876 single base substitution G T splice_donor_variant CESC-US 17 72301440 72301440 single base substitution T G 3_prime_UTR_variant CESC-US 17 72301440 72301440 single base substitution T G missense_variant V214G 641T>G CESC-US 17 72301440 72301440 single base substitution T G missense_variant V357G 1070T>G CESC-US 17 72301440 72301440 single base substitution T G missense_variant V414G 1241T>G CESC-US 17 72308204 72308204 single base substitution G A 3_prime_UTR_variant CESC-US 17 72308204 72308204 single base substitution G A synonymous_variant L376L 1128G>A CESC-US 17 72308204 72308204 single base substitution G A synonymous_variant L507L 1521G>A CESC-US 17 72308204 72308204 single base substitution G A synonymous_variant L519L 1557G>A CESC-US 17 72308204 72308204 single base substitution G A synonymous_variant L576L 1728G>A CESC-US 17 72308204 72308204 single base substitution G A upstream_gene_variant CESC-US 17 72308359 72308359 single base substitution C T intron_variant CESC-US 17 72308359 72308359 single base substitution C T missense_variant T559M 1676C>T CESC-US 17 72308359 72308359 single base substitution C T missense_variant T571M 1712C>T CESC-US 17 72308359 72308359 single base substitution C T missense_variant T628M 1883C>T CESC-US 17 72308359 72308359 single base substitution C T upstream_gene_variant CLLE-ES 17 72269201 72269201 single base substitution A G upstream_gene_variant CLLE-ES 17 72270717 72270717 single base substitution G C intron_variant CLLE-ES 17 72279743 72279743 single base substitution T A intron_variant CLLE-ES 17 72285089 72285089 single base substitution G A intron_variant CLLE-ES 17 72300493 72300493 single base substitution C T intron_variant COAD-US 17 72277999 72277999 single base substitution G A 5_prime_UTR_variant COAD-US 17 72277999 72277999 single base substitution G A exon_variant COAD-US 17 72277999 72277999 single base substitution G A missense_variant G15R 43G>A COAD-US 17 72277999 72277999 single base substitution G A missense_variant G72R 214G>A COAD-US 17 72278079 72278079 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 17 72278079 72278079 single base substitution C T exon_variant COAD-US 17 72278079 72278079 single base substitution C T synonymous_variant F41F 123C>T COAD-US 17 72278079 72278079 single base substitution C T synonymous_variant F98F 294C>T COAD-US 17 72285735 72285735 insertion of <=200bp - C frameshift_variant D14A? COAD-US 17 72285735 72285735 insertion of <=200bp - C frameshift_variant D157A? COAD-US 17 72285735 72285735 insertion of <=200bp - C frameshift_variant D214A? COAD-US 17 72285735 72285735 insertion of <=200bp - C splice_region_variant COAD-US 17 72295966 72295966 single base substitution C T 3_prime_UTR_variant COAD-US 17 72295966 72295966 single base substitution C T synonymous_variant T135T 405C>T COAD-US 17 72295966 72295966 single base substitution C T synonymous_variant T278T 834C>T COAD-US 17 72295966 72295966 single base substitution C T synonymous_variant T335T 1005C>T COAD-US 17 72295986 72295986 single base substitution C T 3_prime_UTR_variant COAD-US 17 72295986 72295986 single base substitution C T missense_variant T142M 425C>T COAD-US 17 72295986 72295986 single base substitution C T missense_variant T285M 854C>T COAD-US 17 72295986 72295986 single base substitution C T missense_variant T342M 1025C>T COAD-US 17 72306209 72306209 single base substitution C T 3_prime_UTR_variant COAD-US 17 72306209 72306209 single base substitution C T synonymous_variant I324I 972C>T COAD-US 17 72306209 72306209 single base substitution C T synonymous_variant I455I 1365C>T COAD-US 17 72306209 72306209 single base substitution C T synonymous_variant I467I 1401C>T COAD-US 17 72306209 72306209 single base substitution C T synonymous_variant I524I 1572C>T COAD-US 17 72306209 72306209 single base substitution C T upstream_gene_variant COAD-US 17 72306255 72306255 single base substitution C T 3_prime_UTR_variant COAD-US 17 72306255 72306255 single base substitution C T missense_variant P340S 1018C>T COAD-US 17 72306255 72306255 single base substitution C T missense_variant P471S 1411C>T COAD-US 17 72306255 72306255 single base substitution C T missense_variant P483S 1447C>T COAD-US 17 72306255 72306255 single base substitution C T missense_variant P540S 1618C>T COAD-US 17 72306255 72306255 single base substitution C T upstream_gene_variant COCA-CN 17 72281329 72281329 single base substitution C T exon_variant COCA-CN 17 72281329 72281329 single base substitution C T stop_gained Q112* 334C>T COCA-CN 17 72281329 72281329 single base substitution C T stop_gained Q169* 505C>T COCA-CN 17 72281329 72281329 single base substitution C T synonymous_variant C9C 27C>T COCA-CN 17 72298049 72298049 single base substitution A G intron_variant COCA-CN 17 72306117 72306117 single base substitution C T intron_variant COCA-CN 17 72306117 72306117 single base substitution C T upstream_gene_variant COCA-CN 17 72308288 72308288 single base substitution G C intron_variant COCA-CN 17 72308288 72308288 single base substitution G C missense_variant K535N 1605G>C COCA-CN 17 72308288 72308288 single base substitution G C missense_variant K547N 1641G>C COCA-CN 17 72308288 72308288 single base substitution G C missense_variant K604N 1812G>C COCA-CN 17 72308288 72308288 single base substitution G C upstream_gene_variant COCA-CN 17 72308292 72308292 single base substitution G A intron_variant COCA-CN 17 72308292 72308292 single base substitution G A missense_variant E537K 1609G>A COCA-CN 17 72308292 72308292 single base substitution G A missense_variant E549K 1645G>A COCA-CN 17 72308292 72308292 single base substitution G A missense_variant E606K 1816G>A COCA-CN 17 72308292 72308292 single base substitution G A upstream_gene_variant EOPC-DE 17 72269619 72269619 single base substitution G A upstream_gene_variant EOPC-DE 17 72277375 72277375 single base substitution G A intron_variant EOPC-DE 17 72277375 72277375 single base substitution G A upstream_gene_variant EOPC-DE 17 72281019 72281019 single base substitution A G intron_variant EOPC-DE 17 72299955 72299955 single base substitution T A intron_variant EOPC-DE 17 72301048 72301048 single base substitution G A intron_variant ESAD-UK 17 72266025 72266025 single base substitution G A upstream_gene_variant ESAD-UK 17 72266206 72266206 single base substitution G A upstream_gene_variant ESAD-UK 17 72266616 72266616 single base substitution A G upstream_gene_variant ESAD-UK 17 72269070 72269070 single base substitution G A upstream_gene_variant ESAD-UK 17 72272881 72272881 single base substitution T C intron_variant ESAD-UK 17 72272881 72272881 single base substitution T C upstream_gene_variant ESAD-UK 17 72273067 72273067 single base substitution G A intron_variant ESAD-UK 17 72273067 72273067 single base substitution G A upstream_gene_variant ESAD-UK 17 72273416 72273416 single base substitution C T intron_variant ESAD-UK 17 72273416 72273416 single base substitution C T upstream_gene_variant ESAD-UK 17 72273448 72273448 single base substitution C A intron_variant ESAD-UK 17 72273448 72273448 single base substitution C A upstream_gene_variant ESAD-UK 17 72274008 72274008 single base substitution C A intron_variant ESAD-UK 17 72274008 72274008 single base substitution C A upstream_gene_variant ESAD-UK 17 72276429 72276429 single base substitution T C intron_variant ESAD-UK 17 72276429 72276429 single base substitution T C upstream_gene_variant ESAD-UK 17 72277301 72277301 single base substitution G A intron_variant ESAD-UK 17 72277301 72277301 single base substitution G A upstream_gene_variant ESAD-UK 17 72277972 72277972 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 17 72277972 72277972 single base substitution G A exon_variant ESAD-UK 17 72277972 72277972 single base substitution G A missense_variant V63M 187G>A ESAD-UK 17 72277972 72277972 single base substitution G A missense_variant V6M 16G>A ESAD-UK 17 72278527 72278527 single base substitution T G intron_variant ESAD-UK 17 72280712 72280712 single base substitution C T intron_variant ESAD-UK 17 72282086 72282087 deletion of <=200bp AC - intron_variant ESAD-UK 17 72283088 72283088 single base substitution C T intron_variant ESAD-UK 17 72284161 72284161 single base substitution T C intron_variant ESAD-UK 17 72285278 72285278 single base substitution C T intron_variant ESAD-UK 17 72286006 72286006 single base substitution G T intron_variant ESAD-UK 17 72287310 72287310 deletion of <=200bp T - intron_variant ESAD-UK 17 72287458 72287458 single base substitution C A intron_variant ESAD-UK 17 72288095 72288095 single base substitution C T intron_variant ESAD-UK 17 72290193 72290193 single base substitution A G intron_variant ESAD-UK 17 72290232 72290232 single base substitution T G intron_variant ESAD-UK 17 72290851 72290851 single base substitution T A intron_variant ESAD-UK 17 72292041 72292041 single base substitution C G intron_variant ESAD-UK 17 72295449 72295449 single base substitution C T intron_variant ESAD-UK 17 72295957 72295957 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 72295957 72295957 single base substitution G A synonymous_variant K132K 396G>A ESAD-UK 17 72295957 72295957 single base substitution G A synonymous_variant K275K 825G>A ESAD-UK 17 72295957 72295957 single base substitution G A synonymous_variant K332K 996G>A ESAD-UK 17 72297215 72297215 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 72297215 72297215 single base substitution G A missense_variant E156K 466G>A ESAD-UK 17 72297215 72297215 single base substitution G A missense_variant E299K 895G>A ESAD-UK 17 72297215 72297215 single base substitution G A missense_variant E356K 1066G>A ESAD-UK 17 72297468 72297468 single base substitution A C intron_variant ESAD-UK 17 72297913 72297913 insertion of <=200bp - C intron_variant ESAD-UK 17 72298933 72298933 single base substitution T A intron_variant ESAD-UK 17 72299273 72299273 single base substitution C T intron_variant ESAD-UK 17 72300661 72300661 single base substitution G T intron_variant ESAD-UK 17 72301693 72301693 single base substitution C A intron_variant ESAD-UK 17 72301964 72301964 single base substitution C T intron_variant ESAD-UK 17 72303796 72303796 single base substitution C T intron_variant ESAD-UK 17 72303842 72303843 deletion of <=200bp TA - intron_variant ESAD-UK 17 72304564 72304573 deletion of <=200bp AGGGCTGGGA - intron_variant ESAD-UK 17 72305664 72305664 single base substitution C A intron_variant ESAD-UK 17 72305664 72305664 single base substitution C A upstream_gene_variant ESAD-UK 17 72306054 72306054 single base substitution G C intron_variant ESAD-UK 17 72306054 72306054 single base substitution G C upstream_gene_variant ESAD-UK 17 72307110 72307110 single base substitution C T intron_variant ESAD-UK 17 72307110 72307110 single base substitution C T upstream_gene_variant ESAD-UK 17 72308160 72308160 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 72308160 72308160 single base substitution C T missense_variant R362W 1084C>T ESAD-UK 17 72308160 72308160 single base substitution C T missense_variant R493W 1477C>T ESAD-UK 17 72308160 72308160 single base substitution C T missense_variant R505W 1513C>T ESAD-UK 17 72308160 72308160 single base substitution C T missense_variant R562W 1684C>T ESAD-UK 17 72308160 72308160 single base substitution C T upstream_gene_variant ESAD-UK 17 72308692 72308692 single base substitution C T intron_variant ESAD-UK 17 72308692 72308692 single base substitution C T upstream_gene_variant ESAD-UK 17 72309791 72309791 single base substitution C T intron_variant ESAD-UK 17 72309791 72309791 single base substitution C T upstream_gene_variant ESAD-UK 17 72311632 72311632 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 72314469 72314469 single base substitution C T downstream_gene_variant ESCA-CN 17 72297284 72297284 single base substitution T G 3_prime_UTR_variant ESCA-CN 17 72297284 72297284 single base substitution T G missense_variant S179A 535T>G ESCA-CN 17 72297284 72297284 single base substitution T G missense_variant S322A 964T>G ESCA-CN 17 72297284 72297284 single base substitution T G missense_variant S379A 1135T>G ESCA-CN 17 72306141 72306141 single base substitution C T intron_variant ESCA-CN 17 72306141 72306141 single base substitution C T upstream_gene_variant ESCA-CN 17 72306246 72306246 single base substitution G C 3_prime_UTR_variant ESCA-CN 17 72306246 72306246 single base substitution G C missense_variant E337Q 1009G>C ESCA-CN 17 72306246 72306246 single base substitution G C missense_variant E468Q 1402G>C ESCA-CN 17 72306246 72306246 single base substitution G C missense_variant E480Q 1438G>C ESCA-CN 17 72306246 72306246 single base substitution G C missense_variant E537Q 1609G>C ESCA-CN 17 72306246 72306246 single base substitution G C upstream_gene_variant GBM-US 17 72283178 72283178 single base substitution C T intron_variant GBM-US 17 72283178 72283178 single base substitution C T synonymous_variant D136D 408C>T GBM-US 17 72283178 72283178 single base substitution C T synonymous_variant D193D 579C>T GBM-US 17 72308276 72308276 single base substitution G A intron_variant GBM-US 17 72308276 72308276 single base substitution G A synonymous_variant A531A 1593G>A GBM-US 17 72308276 72308276 single base substitution G A synonymous_variant A543A 1629G>A GBM-US 17 72308276 72308276 single base substitution G A synonymous_variant A600A 1800G>A GBM-US 17 72308276 72308276 single base substitution G A upstream_gene_variant KIRP-US 17 72306227 72306227 single base substitution G T 3_prime_UTR_variant KIRP-US 17 72306227 72306227 single base substitution G T synonymous_variant L330L 990G>T KIRP-US 17 72306227 72306227 single base substitution G T synonymous_variant L461L 1383G>T KIRP-US 17 72306227 72306227 single base substitution G T synonymous_variant L473L 1419G>T KIRP-US 17 72306227 72306227 single base substitution G T synonymous_variant L530L 1590G>T KIRP-US 17 72306227 72306227 single base substitution G T upstream_gene_variant LAML-KR 17 72287169 72287169 single base substitution C A exon_variant LAML-KR 17 72287169 72287169 single base substitution C A missense_variant N207K 621C>A LAML-KR 17 72287169 72287169 single base substitution C A missense_variant N264K 792C>A LAML-KR 17 72287169 72287169 single base substitution C A missense_variant N64K 192C>A LAML-KR 17 72298177 72298177 single base substitution G A intron_variant LGG-US 17 72301394 72301394 single base substitution G A 3_prime_UTR_variant LGG-US 17 72301394 72301394 single base substitution G A missense_variant V199I 595G>A LGG-US 17 72301394 72301394 single base substitution G A missense_variant V342I 1024G>A LGG-US 17 72301394 72301394 single base substitution G A missense_variant V399I 1195G>A LIAD-FR 17 72308291 72308291 single base substitution C A intron_variant LIAD-FR 17 72308291 72308291 single base substitution C A synonymous_variant A536A 1608C>A LIAD-FR 17 72308291 72308291 single base substitution C A synonymous_variant A548A 1644C>A LIAD-FR 17 72308291 72308291 single base substitution C A synonymous_variant A605A 1815C>A LIAD-FR 17 72308291 72308291 single base substitution C A upstream_gene_variant LICA-FR 17 72277972 72277972 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 17 72277972 72277972 single base substitution G A exon_variant LICA-FR 17 72277972 72277972 single base substitution G A missense_variant V63M 187G>A LICA-FR 17 72277972 72277972 single base substitution G A missense_variant V6M 16G>A LICA-FR 17 72278000 72278000 single base substitution G T 5_prime_UTR_variant LICA-FR 17 72278000 72278000 single base substitution G T exon_variant LICA-FR 17 72278000 72278000 single base substitution G T missense_variant G15V 44G>T LICA-FR 17 72278000 72278000 single base substitution G T missense_variant G72V 215G>T LICA-FR 17 72278001 72278001 single base substitution G T 5_prime_UTR_variant LICA-FR 17 72278001 72278001 single base substitution G T exon_variant LICA-FR 17 72278001 72278001 single base substitution G T synonymous_variant G15G 45G>T LICA-FR 17 72278001 72278001 single base substitution G T synonymous_variant G72G 216G>T LICA-FR 17 72278087 72278087 single base substitution G A 5_prime_UTR_variant LICA-FR 17 72278087 72278087 single base substitution G A exon_variant LICA-FR 17 72278087 72278087 single base substitution G A missense_variant R101Q 302G>A LICA-FR 17 72278087 72278087 single base substitution G A missense_variant R44Q 131G>A LICA-FR 17 72292068 72292068 single base substitution G A intron_variant LICA-FR 17 72292101 72292101 single base substitution C T intron_variant LICA-FR 17 72294920 72294920 single base substitution G A intron_variant LICA-FR 17 72298233 72298233 single base substitution G A intron_variant LICA-FR 17 72305217 72305217 single base substitution A C intron_variant LICA-FR 17 72305217 72305217 single base substitution A C upstream_gene_variant LICA-FR 17 72313906 72313906 deletion of <=200bp T - downstream_gene_variant LIHC-US 17 72281284 72281284 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 17 72281284 72281284 single base substitution C T exon_variant LIHC-US 17 72281284 72281284 single base substitution C T missense_variant R154W 460C>T LIHC-US 17 72281284 72281284 single base substitution C T missense_variant R97W 289C>T LIHC-US 17 72285791 72285791 single base substitution A G exon_variant LIHC-US 17 72285791 72285791 single base substitution A G missense_variant R176G 526A>G LIHC-US 17 72285791 72285791 single base substitution A G missense_variant R233G 697A>G LIHC-US 17 72285791 72285791 single base substitution A G missense_variant R33G 97A>G LINC-JP 17 72280847 72280847 single base substitution G T intron_variant LINC-JP 17 72291730 72291730 single base substitution G T intron_variant LINC-JP 17 72306192 72306192 single base substitution G T 3_prime_UTR_variant LINC-JP 17 72306192 72306192 single base substitution G T missense_variant D319Y 955G>T LINC-JP 17 72306192 72306192 single base substitution G T missense_variant D450Y 1348G>T LINC-JP 17 72306192 72306192 single base substitution G T missense_variant D462Y 1384G>T LINC-JP 17 72306192 72306192 single base substitution G T missense_variant D519Y 1555G>T LINC-JP 17 72306192 72306192 single base substitution G T upstream_gene_variant LIRI-JP 17 72266367 72266367 single base substitution A G upstream_gene_variant LIRI-JP 17 72266659 72266659 single base substitution T C upstream_gene_variant LIRI-JP 17 72266801 72266801 single base substitution T C upstream_gene_variant LIRI-JP 17 72267488 72267488 single base substitution T C upstream_gene_variant LIRI-JP 17 72267678 72267678 single base substitution C G upstream_gene_variant LIRI-JP 17 72267694 72267694 single base substitution C T upstream_gene_variant LIRI-JP 17 72273775 72273775 single base substitution A G intron_variant LIRI-JP 17 72273775 72273775 single base substitution A G upstream_gene_variant LIRI-JP 17 72274311 72274311 single base substitution A G intron_variant LIRI-JP 17 72274311 72274311 single base substitution A G upstream_gene_variant LIRI-JP 17 72274381 72274381 single base substitution C G intron_variant LIRI-JP 17 72274381 72274381 single base substitution C G upstream_gene_variant LIRI-JP 17 72274504 72274504 single base substitution G T intron_variant LIRI-JP 17 72274504 72274504 single base substitution G T upstream_gene_variant LIRI-JP 17 72276321 72276321 single base substitution G T intron_variant LIRI-JP 17 72276321 72276321 single base substitution G T upstream_gene_variant LIRI-JP 17 72276388 72276388 single base substitution C T intron_variant LIRI-JP 17 72276388 72276388 single base substitution C T upstream_gene_variant LIRI-JP 17 72279062 72279062 single base substitution G T intron_variant LIRI-JP 17 72279894 72279894 single base substitution A C intron_variant LIRI-JP 17 72280799 72280799 single base substitution C T intron_variant LIRI-JP 17 72281285 72281285 single base substitution G A 5_prime_UTR_variant LIRI-JP 17 72281285 72281285 single base substitution G A exon_variant LIRI-JP 17 72281285 72281285 single base substitution G A missense_variant R154Q 461G>A LIRI-JP 17 72281285 72281285 single base substitution G A missense_variant R97Q 290G>A LIRI-JP 17 72284840 72284842 deletion of <=200bp GAA - intron_variant LIRI-JP 17 72286384 72286384 single base substitution G T intron_variant LIRI-JP 17 72286896 72286896 single base substitution A G intron_variant LIRI-JP 17 72287490 72287490 single base substitution A G intron_variant LIRI-JP 17 72288874 72288874 single base substitution T A intron_variant LIRI-JP 17 72288905 72288905 single base substitution C A intron_variant LIRI-JP 17 72289030 72289030 single base substitution G A intron_variant LIRI-JP 17 72289653 72289653 single base substitution A G intron_variant LIRI-JP 17 72289786 72289786 single base substitution T A intron_variant LIRI-JP 17 72289829 72289829 single base substitution C T intron_variant LIRI-JP 17 72293001 72293001 single base substitution T C intron_variant LIRI-JP 17 72294123 72294123 single base substitution T C intron_variant LIRI-JP 17 72294771 72294771 single base substitution T C intron_variant LIRI-JP 17 72295919 72295919 single base substitution C T 3_prime_UTR_variant LIRI-JP 17 72295919 72295919 single base substitution C T stop_gained R120* 358C>T LIRI-JP 17 72295919 72295919 single base substitution C T stop_gained R263* 787C>T LIRI-JP 17 72295919 72295919 single base substitution C T stop_gained R320* 958C>T LIRI-JP 17 72297336 72297336 single base substitution A T intron_variant LIRI-JP 17 72299107 72299107 single base substitution A G intron_variant LIRI-JP 17 72299276 72299276 single base substitution G A intron_variant LIRI-JP 17 72299502 72299502 deletion of <=200bp C - intron_variant LIRI-JP 17 72299929 72299929 single base substitution A G intron_variant LIRI-JP 17 72300409 72300409 single base substitution C T intron_variant LIRI-JP 17 72301513 72301513 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 72301513 72301513 single base substitution G A synonymous_variant L238L 714G>A LIRI-JP 17 72301513 72301513 single base substitution G A synonymous_variant L381L 1143G>A LIRI-JP 17 72301513 72301513 single base substitution G A synonymous_variant L438L 1314G>A LIRI-JP 17 72301970 72301970 single base substitution C A intron_variant LIRI-JP 17 72301971 72301971 single base substitution C A intron_variant LIRI-JP 17 72302004 72302004 single base substitution T C intron_variant LIRI-JP 17 72302012 72302012 single base substitution C T intron_variant LIRI-JP 17 72302913 72302913 single base substitution C T intron_variant LIRI-JP 17 72303476 72303476 single base substitution T C intron_variant LIRI-JP 17 72304364 72304364 single base substitution A C intron_variant LIRI-JP 17 72305392 72305392 single base substitution G T missense_variant K261N 783G>T LIRI-JP 17 72305392 72305392 single base substitution G T missense_variant K404N 1212G>T LIRI-JP 17 72305392 72305392 single base substitution G T missense_variant K461N 1383G>T LIRI-JP 17 72305392 72305392 single base substitution G T splice_region_variant LIRI-JP 17 72305392 72305392 single base substitution G T upstream_gene_variant LIRI-JP 17 72308518 72308518 single base substitution G A intron_variant LIRI-JP 17 72308518 72308518 single base substitution G A upstream_gene_variant LIRI-JP 17 72309205 72309205 single base substitution A C intron_variant LIRI-JP 17 72309205 72309205 single base substitution A C upstream_gene_variant LIRI-JP 17 72312582 72312582 single base substitution G C downstream_gene_variant LIRI-JP 17 72312610 72312610 single base substitution C T downstream_gene_variant LIRI-JP 17 72313691 72313691 insertion of <=200bp - A downstream_gene_variant LUSC-KR 17 72270147 72270147 single base substitution G T upstream_gene_variant LUSC-KR 17 72270442 72270442 single base substitution A G 5_prime_UTR_variant LUSC-KR 17 72277049 72277049 single base substitution G A intron_variant LUSC-KR 17 72277049 72277049 single base substitution G A upstream_gene_variant LUSC-KR 17 72282115 72282115 single base substitution G T intron_variant LUSC-KR 17 72284206 72284206 single base substitution A T intron_variant LUSC-KR 17 72288033 72288033 single base substitution C A intron_variant LUSC-KR 17 72288283 72288283 single base substitution C T intron_variant LUSC-KR 17 72290822 72290822 single base substitution G T intron_variant LUSC-KR 17 72297104 72297104 single base substitution C T intron_variant LUSC-KR 17 72297180 72297180 single base substitution A G splice_region_variant LUSC-KR 17 72298057 72298057 single base substitution G A intron_variant LUSC-KR 17 72298193 72298193 single base substitution G A intron_variant LUSC-KR 17 72298197 72298197 single base substitution G A intron_variant LUSC-KR 17 72300202 72300202 single base substitution A C intron_variant LUSC-KR 17 72302706 72302706 single base substitution G T intron_variant LUSC-KR 17 72304256 72304256 single base substitution T A intron_variant LUSC-KR 17 72306291 72306291 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 72306291 72306291 single base substitution G A missense_variant V352I 1054G>A LUSC-KR 17 72306291 72306291 single base substitution G A missense_variant V483I 1447G>A LUSC-KR 17 72306291 72306291 single base substitution G A missense_variant V495I 1483G>A LUSC-KR 17 72306291 72306291 single base substitution G A missense_variant V552I 1654G>A LUSC-KR 17 72306291 72306291 single base substitution G A upstream_gene_variant LUSC-KR 17 72311339 72311339 single base substitution A C downstream_gene_variant LUSC-KR 17 72314558 72314558 single base substitution G T downstream_gene_variant LUSC-US 17 72285829 72285829 single base substitution G T exon_variant LUSC-US 17 72285829 72285829 single base substitution G T missense_variant Q188H 564G>T LUSC-US 17 72285829 72285829 single base substitution G T missense_variant Q245H 735G>T LUSC-US 17 72285829 72285829 single base substitution G T missense_variant Q45H 135G>T LUSC-US 17 72285877 72285877 single base substitution T A splice_donor_variant LUSC-US 17 72305467 72305467 single base substitution C T 3_prime_UTR_variant LUSC-US 17 72305467 72305467 single base substitution C T synonymous_variant D286D 858C>T LUSC-US 17 72305467 72305467 single base substitution C T synonymous_variant D429D 1287C>T LUSC-US 17 72305467 72305467 single base substitution C T synonymous_variant D486D 1458C>T LUSC-US 17 72305467 72305467 single base substitution C T upstream_gene_variant LUSC-US 17 72308155 72308155 single base substitution A T 3_prime_UTR_variant LUSC-US 17 72308155 72308155 single base substitution A T missense_variant E360V 1079A>T LUSC-US 17 72308155 72308155 single base substitution A T missense_variant E491V 1472A>T LUSC-US 17 72308155 72308155 single base substitution A T missense_variant E503V 1508A>T LUSC-US 17 72308155 72308155 single base substitution A T missense_variant E560V 1679A>T LUSC-US 17 72308155 72308155 single base substitution A T upstream_gene_variant LUSC-US 17 72310317 72310317 single base substitution G A 3_prime_UTR_variant LUSC-US 17 72310317 72310317 single base substitution G A exon_variant LUSC-US 17 72310317 72310317 single base substitution G A missense_variant E582K 1744G>A LUSC-US 17 72310317 72310317 single base substitution G A missense_variant E594K 1780G>A LUSC-US 17 72310317 72310317 single base substitution G A missense_variant E651K 1951G>A LUSC-US 17 72310317 72310317 single base substitution G A missense_variant G399E 1196G>A MALY-DE 17 72267760 72267760 insertion of <=200bp - A upstream_gene_variant MALY-DE 17 72267808 72267808 single base substitution C A upstream_gene_variant MALY-DE 17 72268213 72268213 single base substitution G A upstream_gene_variant MALY-DE 17 72278185 72278185 single base substitution C T intron_variant MALY-DE 17 72280233 72280233 single base substitution C T intron_variant MALY-DE 17 72282109 72282109 single base substitution T G intron_variant MALY-DE 17 72296985 72296985 single base substitution C T intron_variant MALY-DE 17 72298201 72298201 single base substitution G A intron_variant MALY-DE 17 72303634 72303634 single base substitution C T intron_variant MALY-DE 17 72306065 72306065 single base substitution A G intron_variant MALY-DE 17 72306065 72306065 single base substitution A G upstream_gene_variant MALY-DE 17 72306959 72306959 single base substitution G A intron_variant MALY-DE 17 72306959 72306959 single base substitution G A upstream_gene_variant MALY-DE 17 72308075 72308075 single base substitution C A intron_variant MALY-DE 17 72308075 72308075 single base substitution C A upstream_gene_variant MALY-DE 17 72312456 72312457 deletion of <=200bp GA - downstream_gene_variant MALY-DE 17 72313889 72313889 insertion of <=200bp - TATA downstream_gene_variant MELA-AU 17 72265442 72265442 single base substitution G A upstream_gene_variant MELA-AU 17 72266133 72266133 single base substitution C T upstream_gene_variant MELA-AU 17 72266628 72266628 single base substitution G A upstream_gene_variant MELA-AU 17 72267026 72267026 single base substitution C T upstream_gene_variant MELA-AU 17 72267343 72267343 single base substitution G T upstream_gene_variant MELA-AU 17 72267542 72267542 single base substitution A G upstream_gene_variant MELA-AU 17 72268988 72268988 single base substitution C T upstream_gene_variant MELA-AU 17 72269530 72269530 single base substitution C T upstream_gene_variant MELA-AU 17 72269611 72269611 single base substitution C T upstream_gene_variant MELA-AU 17 72269809 72269809 single base substitution G A upstream_gene_variant MELA-AU 17 72269995 72269995 single base substitution G A upstream_gene_variant MELA-AU 17 72270817 72270817 single base substitution G A intron_variant MELA-AU 17 72271024 72271024 single base substitution C T intron_variant MELA-AU 17 72271184 72271184 single base substitution G A intron_variant MELA-AU 17 72271248 72271248 single base substitution C A intron_variant MELA-AU 17 72271685 72271685 single base substitution G A intron_variant MELA-AU 17 72271695 72271695 single base substitution C T intron_variant MELA-AU 17 72271798 72271798 single base substitution G A intron_variant MELA-AU 17 72272287 72272287 single base substitution C T intron_variant MELA-AU 17 72272366 72272366 single base substitution G C intron_variant MELA-AU 17 72272518 72272518 single base substitution G A intron_variant MELA-AU 17 72272671 72272671 single base substitution C T intron_variant MELA-AU 17 72272671 72272671 single base substitution C T upstream_gene_variant MELA-AU 17 72272946 72272947 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 72272946 72272947 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 72273067 72273067 single base substitution G A intron_variant MELA-AU 17 72273067 72273067 single base substitution G A upstream_gene_variant MELA-AU 17 72273317 72273317 single base substitution G A intron_variant MELA-AU 17 72273317 72273317 single base substitution G A upstream_gene_variant MELA-AU 17 72273456 72273456 single base substitution G A intron_variant MELA-AU 17 72273456 72273456 single base substitution G A upstream_gene_variant MELA-AU 17 72273832 72273832 single base substitution G A intron_variant MELA-AU 17 72273832 72273832 single base substitution G A upstream_gene_variant MELA-AU 17 72274603 72274603 single base substitution C T intron_variant MELA-AU 17 72274603 72274603 single base substitution C T upstream_gene_variant MELA-AU 17 72274615 72274615 single base substitution T G intron_variant MELA-AU 17 72274615 72274615 single base substitution T G upstream_gene_variant MELA-AU 17 72274912 72274912 single base substitution C T intron_variant MELA-AU 17 72274912 72274912 single base substitution C T upstream_gene_variant MELA-AU 17 72275200 72275200 single base substitution G A intron_variant MELA-AU 17 72275200 72275200 single base substitution G A upstream_gene_variant MELA-AU 17 72275200 72275201 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 72275200 72275201 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 72275366 72275366 single base substitution C T intron_variant MELA-AU 17 72275366 72275366 single base substitution C T upstream_gene_variant MELA-AU 17 72275495 72275495 single base substitution G A intron_variant MELA-AU 17 72275495 72275495 single base substitution G A upstream_gene_variant MELA-AU 17 72275531 72275531 single base substitution C T intron_variant MELA-AU 17 72275531 72275531 single base substitution C T upstream_gene_variant MELA-AU 17 72275969 72275969 single base substitution A G intron_variant MELA-AU 17 72275969 72275969 single base substitution A G upstream_gene_variant MELA-AU 17 72276037 72276037 single base substitution C T intron_variant MELA-AU 17 72276037 72276037 single base substitution C T upstream_gene_variant MELA-AU 17 72276253 72276253 single base substitution G A intron_variant MELA-AU 17 72276253 72276253 single base substitution G A upstream_gene_variant MELA-AU 17 72276561 72276561 single base substitution C T intron_variant MELA-AU 17 72276561 72276561 single base substitution C T upstream_gene_variant MELA-AU 17 72276615 72276615 single base substitution C T intron_variant MELA-AU 17 72276615 72276615 single base substitution C T upstream_gene_variant MELA-AU 17 72276648 72276648 single base substitution C T intron_variant MELA-AU 17 72276648 72276648 single base substitution C T upstream_gene_variant MELA-AU 17 72276660 72276660 single base substitution G A intron_variant MELA-AU 17 72276660 72276660 single base substitution G A upstream_gene_variant MELA-AU 17 72276691 72276691 single base substitution G A intron_variant MELA-AU 17 72276691 72276691 single base substitution G A upstream_gene_variant MELA-AU 17 72276792 72276792 single base substitution G A intron_variant MELA-AU 17 72276792 72276792 single base substitution G A upstream_gene_variant MELA-AU 17 72276899 72276899 single base substitution C T intron_variant MELA-AU 17 72276899 72276899 single base substitution C T upstream_gene_variant MELA-AU 17 72276973 72276973 single base substitution C T intron_variant MELA-AU 17 72276973 72276973 single base substitution C T upstream_gene_variant MELA-AU 17 72277501 72277501 single base substitution G A intron_variant MELA-AU 17 72277501 72277501 single base substitution G A upstream_gene_variant MELA-AU 17 72278146 72278146 single base substitution C T intron_variant MELA-AU 17 72278146 72278146 single base substitution C T splice_region_variant MELA-AU 17 72278354 72278354 single base substitution G A intron_variant MELA-AU 17 72278376 72278376 single base substitution C T intron_variant MELA-AU 17 72278530 72278530 single base substitution C T intron_variant MELA-AU 17 72278842 72278842 single base substitution C T intron_variant MELA-AU 17 72278990 72278990 single base substitution G C intron_variant MELA-AU 17 72279078 72279079 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 72279311 72279311 single base substitution C T intron_variant MELA-AU 17 72279962 72279962 single base substitution G A intron_variant MELA-AU 17 72280276 72280276 single base substitution T C intron_variant MELA-AU 17 72280547 72280547 single base substitution C T intron_variant MELA-AU 17 72280786 72280786 single base substitution C T intron_variant MELA-AU 17 72280821 72280821 single base substitution G A intron_variant MELA-AU 17 72280858 72280858 single base substitution C T intron_variant MELA-AU 17 72281213 72281213 single base substitution G A 5_prime_UTR_variant MELA-AU 17 72281213 72281213 single base substitution G A exon_variant MELA-AU 17 72281213 72281213 single base substitution G A missense_variant G130E 389G>A MELA-AU 17 72281213 72281213 single base substitution G A missense_variant G73E 218G>A MELA-AU 17 72281400 72281400 single base substitution G A intron_variant MELA-AU 17 72281737 72281737 single base substitution A T intron_variant MELA-AU 17 72281760 72281760 single base substitution G A intron_variant MELA-AU 17 72281924 72281924 single base substitution G A intron_variant MELA-AU 17 72281958 72281958 single base substitution G A intron_variant MELA-AU 17 72282107 72282107 single base substitution T G intron_variant MELA-AU 17 72282109 72282109 single base substitution T G intron_variant MELA-AU 17 72282833 72282833 single base substitution G A intron_variant MELA-AU 17 72282834 72282834 single base substitution G A intron_variant MELA-AU 17 72282934 72282934 single base substitution C T intron_variant MELA-AU 17 72283005 72283005 single base substitution G A intron_variant MELA-AU 17 72283035 72283035 single base substitution C T intron_variant MELA-AU 17 72283036 72283036 single base substitution C T intron_variant MELA-AU 17 72283073 72283073 single base substitution G A intron_variant MELA-AU 17 72283298 72283299 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 72283346 72283346 single base substitution C T intron_variant MELA-AU 17 72284728 72284728 single base substitution C T intron_variant MELA-AU 17 72284745 72284745 single base substitution G A intron_variant MELA-AU 17 72285031 72285031 single base substitution C T intron_variant MELA-AU 17 72285677 72285677 single base substitution G A intron_variant MELA-AU 17 72285687 72285687 single base substitution G A intron_variant MELA-AU 17 72286369 72286369 single base substitution C T intron_variant MELA-AU 17 72286752 72286752 single base substitution G A intron_variant MELA-AU 17 72286784 72286784 single base substitution C T intron_variant MELA-AU 17 72286839 72286839 single base substitution T A intron_variant MELA-AU 17 72286885 72286885 single base substitution G A intron_variant MELA-AU 17 72286918 72286918 single base substitution T A intron_variant MELA-AU 17 72287597 72287597 single base substitution C T intron_variant MELA-AU 17 72287989 72287989 single base substitution G T intron_variant MELA-AU 17 72288223 72288223 single base substitution C T intron_variant MELA-AU 17 72288248 72288248 single base substitution C T intron_variant MELA-AU 17 72288454 72288454 single base substitution G A intron_variant MELA-AU 17 72288474 72288474 single base substitution G A intron_variant MELA-AU 17 72288567 72288567 single base substitution T C intron_variant MELA-AU 17 72288663 72288663 single base substitution C T intron_variant MELA-AU 17 72288793 72288794 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 17 72288819 72288819 single base substitution C T intron_variant MELA-AU 17 72289301 72289301 single base substitution G A intron_variant MELA-AU 17 72289604 72289604 single base substitution C T intron_variant MELA-AU 17 72289642 72289642 single base substitution C T intron_variant MELA-AU 17 72289662 72289662 single base substitution C T intron_variant MELA-AU 17 72289738 72289738 single base substitution G A intron_variant MELA-AU 17 72289806 72289806 single base substitution G A intron_variant MELA-AU 17 72289849 72289849 single base substitution A T intron_variant MELA-AU 17 72290227 72290227 single base substitution C T intron_variant MELA-AU 17 72290335 72290335 single base substitution T C intron_variant MELA-AU 17 72290343 72290343 single base substitution C T intron_variant MELA-AU 17 72290680 72290680 single base substitution C T intron_variant MELA-AU 17 72290887 72290887 single base substitution G A intron_variant MELA-AU 17 72290999 72290999 single base substitution C T intron_variant MELA-AU 17 72291215 72291215 single base substitution C T intron_variant MELA-AU 17 72291598 72291598 single base substitution C T intron_variant MELA-AU 17 72292009 72292009 single base substitution G A intron_variant MELA-AU 17 72292057 72292057 single base substitution G A intron_variant MELA-AU 17 72292365 72292365 single base substitution A G intron_variant MELA-AU 17 72292914 72292914 single base substitution C T intron_variant MELA-AU 17 72293763 72293763 single base substitution C T intron_variant MELA-AU 17 72293988 72293988 single base substitution C T intron_variant MELA-AU 17 72294236 72294236 single base substitution T A intron_variant MELA-AU 17 72294703 72294703 single base substitution C T intron_variant MELA-AU 17 72294714 72294714 single base substitution G A intron_variant MELA-AU 17 72294716 72294716 single base substitution G A intron_variant MELA-AU 17 72294984 72294984 single base substitution G A intron_variant MELA-AU 17 72295153 72295153 single base substitution G A intron_variant MELA-AU 17 72295247 72295247 single base substitution G A intron_variant MELA-AU 17 72295787 72295787 single base substitution C T intron_variant MELA-AU 17 72296028 72296028 single base substitution G A intron_variant MELA-AU 17 72296085 72296085 single base substitution C T intron_variant MELA-AU 17 72296178 72296178 single base substitution C T intron_variant MELA-AU 17 72296521 72296521 single base substitution C T intron_variant MELA-AU 17 72296986 72296986 single base substitution G A intron_variant MELA-AU 17 72297187 72297187 single base substitution C T splice_region_variant MELA-AU 17 72297295 72297295 single base substitution C T 3_prime_UTR_variant MELA-AU 17 72297295 72297295 single base substitution C T synonymous_variant F182F 546C>T MELA-AU 17 72297295 72297295 single base substitution C T synonymous_variant F325F 975C>T MELA-AU 17 72297295 72297295 single base substitution C T synonymous_variant F382F 1146C>T MELA-AU 17 72297326 72297326 single base substitution C T intron_variant MELA-AU 17 72297549 72297549 single base substitution C T intron_variant MELA-AU 17 72297686 72297686 single base substitution C T intron_variant MELA-AU 17 72297872 72297872 single base substitution G A intron_variant MELA-AU 17 72298519 72298519 single base substitution C T intron_variant MELA-AU 17 72298721 72298721 single base substitution G A intron_variant MELA-AU 17 72298810 72298810 single base substitution C T intron_variant MELA-AU 17 72298928 72298928 single base substitution C T intron_variant MELA-AU 17 72298953 72298953 single base substitution G A intron_variant MELA-AU 17 72298966 72298966 single base substitution C T intron_variant MELA-AU 17 72298997 72298997 single base substitution C T intron_variant MELA-AU 17 72299035 72299035 single base substitution C T intron_variant MELA-AU 17 72299095 72299096 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 17 72299117 72299117 single base substitution C T intron_variant MELA-AU 17 72299323 72299323 single base substitution C T intron_variant MELA-AU 17 72299502 72299502 single base substitution C T intron_variant MELA-AU 17 72299546 72299546 single base substitution C T intron_variant MELA-AU 17 72299917 72299917 single base substitution T C intron_variant MELA-AU 17 72300068 72300068 single base substitution C T intron_variant MELA-AU 17 72300184 72300185 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 72300261 72300261 single base substitution G A intron_variant MELA-AU 17 72300383 72300383 single base substitution G A intron_variant MELA-AU 17 72300398 72300398 single base substitution A G intron_variant MELA-AU 17 72300538 72300538 single base substitution C T intron_variant MELA-AU 17 72300658 72300658 single base substitution G A intron_variant MELA-AU 17 72300706 72300706 single base substitution G T intron_variant MELA-AU 17 72300773 72300773 single base substitution G A intron_variant MELA-AU 17 72300946 72300946 single base substitution G A intron_variant MELA-AU 17 72300979 72300979 single base substitution G A intron_variant MELA-AU 17 72301170 72301170 single base substitution A G intron_variant MELA-AU 17 72301174 72301174 single base substitution G A intron_variant MELA-AU 17 72301229 72301229 single base substitution C T intron_variant MELA-AU 17 72301435 72301435 single base substitution G A 3_prime_UTR_variant MELA-AU 17 72301435 72301435 single base substitution G A synonymous_variant K212K 636G>A MELA-AU 17 72301435 72301435 single base substitution G A synonymous_variant K355K 1065G>A MELA-AU 17 72301435 72301435 single base substitution G A synonymous_variant K412K 1236G>A MELA-AU 17 72301450 72301450 single base substitution C T 3_prime_UTR_variant MELA-AU 17 72301450 72301450 single base substitution C T synonymous_variant F217F 651C>T MELA-AU 17 72301450 72301450 single base substitution C T synonymous_variant F360F 1080C>T MELA-AU 17 72301450 72301450 single base substitution C T synonymous_variant F417F 1251C>T MELA-AU 17 72301773 72301773 single base substitution T C intron_variant MELA-AU 17 72301842 72301842 single base substitution C T intron_variant MELA-AU 17 72301930 72301930 single base substitution C T intron_variant MELA-AU 17 72302002 72302002 single base substitution G A intron_variant MELA-AU 17 72302465 72302465 single base substitution A C intron_variant MELA-AU 17 72302631 72302631 single base substitution C T intron_variant MELA-AU 17 72302820 72302820 single base substitution G A intron_variant MELA-AU 17 72302916 72302916 single base substitution C T intron_variant MELA-AU 17 72302953 72302953 single base substitution C T intron_variant MELA-AU 17 72303029 72303029 single base substitution T C intron_variant MELA-AU 17 72303212 72303212 single base substitution G A intron_variant MELA-AU 17 72303386 72303386 single base substitution G A intron_variant MELA-AU 17 72303430 72303430 single base substitution G A intron_variant MELA-AU 17 72303680 72303680 single base substitution C G intron_variant MELA-AU 17 72303801 72303801 single base substitution C T intron_variant MELA-AU 17 72303824 72303824 single base substitution T C intron_variant MELA-AU 17 72303843 72303843 single base substitution A T intron_variant MELA-AU 17 72304422 72304422 single base substitution C T intron_variant MELA-AU 17 72304440 72304440 single base substitution C T intron_variant MELA-AU 17 72304451 72304451 single base substitution G A intron_variant MELA-AU 17 72304886 72304886 single base substitution C T intron_variant MELA-AU 17 72305156 72305156 single base substitution C T intron_variant MELA-AU 17 72305156 72305156 single base substitution C T upstream_gene_variant MELA-AU 17 72305283 72305283 single base substitution C T intron_variant MELA-AU 17 72305283 72305283 single base substitution C T upstream_gene_variant MELA-AU 17 72305309 72305309 single base substitution G A intron_variant MELA-AU 17 72305309 72305309 single base substitution G A upstream_gene_variant MELA-AU 17 72305507 72305507 single base substitution G A 3_prime_UTR_variant MELA-AU 17 72305507 72305507 single base substitution G A missense_variant D300N 898G>A MELA-AU 17 72305507 72305507 single base substitution G A missense_variant D443N 1327G>A MELA-AU 17 72305507 72305507 single base substitution G A missense_variant D500N 1498G>A MELA-AU 17 72305507 72305507 single base substitution G A upstream_gene_variant MELA-AU 17 72305550 72305550 single base substitution T C intron_variant MELA-AU 17 72305550 72305550 single base substitution T C upstream_gene_variant MELA-AU 17 72306007 72306007 single base substitution C T intron_variant MELA-AU 17 72306007 72306007 single base substitution C T upstream_gene_variant MELA-AU 17 72306220 72306220 single base substitution C T 3_prime_UTR_variant MELA-AU 17 72306220 72306220 single base substitution C T missense_variant S328F 983C>T MELA-AU 17 72306220 72306220 single base substitution C T missense_variant S459F 1376C>T MELA-AU 17 72306220 72306220 single base substitution C T missense_variant S471F 1412C>T MELA-AU 17 72306220 72306220 single base substitution C T missense_variant S528F 1583C>T MELA-AU 17 72306220 72306220 single base substitution C T upstream_gene_variant MELA-AU 17 72306221 72306221 single base substitution C T 3_prime_UTR_variant MELA-AU 17 72306221 72306221 single base substitution C T synonymous_variant S328S 984C>T MELA-AU 17 72306221 72306221 single base substitution C T synonymous_variant S459S 1377C>T MELA-AU 17 72306221 72306221 single base substitution C T synonymous_variant S471S 1413C>T MELA-AU 17 72306221 72306221 single base substitution C T synonymous_variant S528S 1584C>T MELA-AU 17 72306221 72306221 single base substitution C T upstream_gene_variant MELA-AU 17 72306329 72306329 single base substitution C T intron_variant MELA-AU 17 72306329 72306329 single base substitution C T upstream_gene_variant MELA-AU 17 72306342 72306342 single base substitution C A intron_variant MELA-AU 17 72306342 72306342 single base substitution C A upstream_gene_variant MELA-AU 17 72307300 72307300 single base substitution A C intron_variant MELA-AU 17 72307300 72307300 single base substitution A C upstream_gene_variant MELA-AU 17 72307350 72307350 single base substitution G A intron_variant MELA-AU 17 72307350 72307350 single base substitution G A upstream_gene_variant MELA-AU 17 72307355 72307355 single base substitution G A intron_variant MELA-AU 17 72307355 72307355 single base substitution G A upstream_gene_variant MELA-AU 17 72307448 72307448 single base substitution G A intron_variant MELA-AU 17 72307448 72307448 single base substitution G A upstream_gene_variant MELA-AU 17 72307989 72307989 single base substitution C T intron_variant MELA-AU 17 72307989 72307989 single base substitution C T upstream_gene_variant MELA-AU 17 72308208 72308208 single base substitution G A 3_prime_UTR_variant MELA-AU 17 72308208 72308208 single base substitution G A missense_variant E378K 1132G>A MELA-AU 17 72308208 72308208 single base substitution G A missense_variant E509K 1525G>A MELA-AU 17 72308208 72308208 single base substitution G A missense_variant E521K 1561G>A MELA-AU 17 72308208 72308208 single base substitution G A missense_variant E578K 1732G>A MELA-AU 17 72308208 72308208 single base substitution G A upstream_gene_variant MELA-AU 17 72308295 72308295 single base substitution G A intron_variant MELA-AU 17 72308295 72308295 single base substitution G A missense_variant E538K 1612G>A MELA-AU 17 72308295 72308295 single base substitution G A missense_variant E550K 1648G>A MELA-AU 17 72308295 72308295 single base substitution G A missense_variant E607K 1819G>A MELA-AU 17 72308295 72308295 single base substitution G A upstream_gene_variant MELA-AU 17 72308618 72308618 single base substitution C T intron_variant MELA-AU 17 72308618 72308618 single base substitution C T upstream_gene_variant MELA-AU 17 72308663 72308663 single base substitution C T intron_variant MELA-AU 17 72308663 72308663 single base substitution C T upstream_gene_variant MELA-AU 17 72308730 72308730 single base substitution G T intron_variant MELA-AU 17 72308730 72308730 single base substitution G T upstream_gene_variant MELA-AU 17 72308809 72308809 single base substitution G A intron_variant MELA-AU 17 72308809 72308809 single base substitution G A upstream_gene_variant MELA-AU 17 72309040 72309040 single base substitution G A intron_variant MELA-AU 17 72309040 72309040 single base substitution G A upstream_gene_variant MELA-AU 17 72309090 72309090 single base substitution G A intron_variant MELA-AU 17 72309090 72309090 single base substitution G A upstream_gene_variant MELA-AU 17 72309169 72309169 single base substitution G A intron_variant MELA-AU 17 72309169 72309169 single base substitution G A upstream_gene_variant MELA-AU 17 72309430 72309430 single base substitution C T intron_variant MELA-AU 17 72309430 72309430 single base substitution C T upstream_gene_variant MELA-AU 17 72309504 72309504 single base substitution C T intron_variant MELA-AU 17 72309504 72309504 single base substitution C T upstream_gene_variant MELA-AU 17 72309589 72309589 single base substitution C T intron_variant MELA-AU 17 72309589 72309589 single base substitution C T upstream_gene_variant MELA-AU 17 72309797 72309797 single base substitution C T intron_variant MELA-AU 17 72309797 72309797 single base substitution C T upstream_gene_variant MELA-AU 17 72309821 72309821 single base substitution C T intron_variant MELA-AU 17 72309821 72309821 single base substitution C T upstream_gene_variant MELA-AU 17 72309828 72309828 single base substitution C T intron_variant MELA-AU 17 72309828 72309828 single base substitution C T upstream_gene_variant MELA-AU 17 72310007 72310007 single base substitution C T exon_variant MELA-AU 17 72310007 72310007 single base substitution C T intron_variant MELA-AU 17 72310087 72310087 single base substitution G A exon_variant MELA-AU 17 72310087 72310087 single base substitution G A intron_variant MELA-AU 17 72310219 72310219 single base substitution C T exon_variant MELA-AU 17 72310219 72310219 single base substitution C T intron_variant MELA-AU 17 72310566 72310566 single base substitution G A intron_variant MELA-AU 17 72310670 72310670 single base substitution C T intron_variant MELA-AU 17 72310927 72310927 single base substitution G A 3_prime_UTR_variant MELA-AU 17 72310927 72310927 single base substitution G A exon_variant MELA-AU 17 72311025 72311025 single base substitution G A downstream_gene_variant MELA-AU 17 72311135 72311135 single base substitution G A downstream_gene_variant MELA-AU 17 72311560 72311560 single base substitution G A downstream_gene_variant MELA-AU 17 72311719 72311720 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 17 72311933 72311933 single base substitution G A downstream_gene_variant MELA-AU 17 72311996 72311996 single base substitution C T downstream_gene_variant MELA-AU 17 72312205 72312205 single base substitution C T downstream_gene_variant MELA-AU 17 72312279 72312279 single base substitution C T downstream_gene_variant MELA-AU 17 72312282 72312282 single base substitution C A downstream_gene_variant MELA-AU 17 72312288 72312288 single base substitution G A downstream_gene_variant MELA-AU 17 72312498 72312498 single base substitution G A downstream_gene_variant MELA-AU 17 72312517 72312517 single base substitution C T downstream_gene_variant MELA-AU 17 72312642 72312642 single base substitution C T downstream_gene_variant MELA-AU 17 72312954 72312954 single base substitution G A downstream_gene_variant MELA-AU 17 72312988 72312988 single base substitution G A downstream_gene_variant MELA-AU 17 72313005 72313005 single base substitution C T downstream_gene_variant MELA-AU 17 72313009 72313009 single base substitution C T downstream_gene_variant MELA-AU 17 72313233 72313233 single base substitution G A downstream_gene_variant MELA-AU 17 72313457 72313457 single base substitution C T downstream_gene_variant MELA-AU 17 72313619 72313619 single base substitution G A downstream_gene_variant MELA-AU 17 72313662 72313662 single base substitution C T downstream_gene_variant MELA-AU 17 72313809 72313809 single base substitution G A downstream_gene_variant MELA-AU 17 72314025 72314025 single base substitution C T downstream_gene_variant MELA-AU 17 72314140 72314140 single base substitution G T downstream_gene_variant MELA-AU 17 72314170 72314170 single base substitution G A downstream_gene_variant MELA-AU 17 72314191 72314191 single base substitution C T downstream_gene_variant MELA-AU 17 72314204 72314204 single base substitution T A downstream_gene_variant MELA-AU 17 72314391 72314391 single base substitution C T downstream_gene_variant MELA-AU 17 72314922 72314922 single base substitution G A downstream_gene_variant MELA-AU 17 72315079 72315079 single base substitution G A downstream_gene_variant MELA-AU 17 72315084 72315084 single base substitution G A downstream_gene_variant MELA-AU 17 72315318 72315318 single base substitution T C downstream_gene_variant MELA-AU 17 72315584 72315584 single base substitution G A downstream_gene_variant MELA-AU 17 72315646 72315646 single base substitution C T downstream_gene_variant MELA-AU 17 72315724 72315724 single base substitution C T downstream_gene_variant MELA-AU 17 72315776 72315776 single base substitution T G downstream_gene_variant MELA-AU 17 72315800 72315800 single base substitution G A downstream_gene_variant MELA-AU 17 72315802 72315802 single base substitution G A downstream_gene_variant MELA-AU 17 72315872 72315872 single base substitution C T downstream_gene_variant ORCA-IN 17 72281320 72281320 single base substitution G A exon_variant ORCA-IN 17 72281320 72281320 single base substitution G A missense_variant A109T 325G>A ORCA-IN 17 72281320 72281320 single base substitution G A missense_variant A166T 496G>A ORCA-IN 17 72281320 72281320 single base substitution G A synonymous_variant T6T 18G>A ORCA-IN 17 72285958 72285958 single base substitution G A intron_variant ORCA-IN 17 72301523 72301523 single base substitution G A 3_prime_UTR_variant ORCA-IN 17 72301523 72301523 single base substitution G A missense_variant D242N 724G>A ORCA-IN 17 72301523 72301523 single base substitution G A missense_variant D385N 1153G>A ORCA-IN 17 72301523 72301523 single base substitution G A missense_variant D442N 1324G>A ORCA-IN 17 72309878 72309878 single base substitution G A intron_variant ORCA-IN 17 72309878 72309878 single base substitution G A upstream_gene_variant ORCA-IN 17 72312664 72312664 single base substitution C T downstream_gene_variant OV-AU 17 72271141 72271141 single base substitution T A intron_variant OV-AU 17 72272868 72272868 single base substitution G C intron_variant OV-AU 17 72272868 72272868 single base substitution G C upstream_gene_variant OV-AU 17 72275577 72275577 single base substitution C T intron_variant OV-AU 17 72275577 72275577 single base substitution C T upstream_gene_variant OV-AU 17 72275671 72275671 single base substitution G A intron_variant OV-AU 17 72275671 72275671 single base substitution G A upstream_gene_variant OV-AU 17 72280324 72280324 single base substitution A C intron_variant OV-AU 17 72283050 72283050 single base substitution T C intron_variant OV-AU 17 72288418 72288418 single base substitution C G intron_variant OV-AU 17 72294685 72294685 single base substitution A T intron_variant OV-AU 17 72297840 72297840 single base substitution G A intron_variant OV-AU 17 72298583 72298583 single base substitution G A intron_variant OV-AU 17 72300334 72300334 single base substitution T C intron_variant OV-AU 17 72303740 72303740 single base substitution C G intron_variant OV-AU 17 72307278 72307278 single base substitution G C intron_variant OV-AU 17 72307278 72307278 single base substitution G C upstream_gene_variant OV-AU 17 72307551 72307551 single base substitution G A intron_variant OV-AU 17 72307551 72307551 single base substitution G A upstream_gene_variant OV-AU 17 72307582 72307582 single base substitution G A intron_variant OV-AU 17 72307582 72307582 single base substitution G A upstream_gene_variant OV-AU 17 72310144 72310144 single base substitution C T exon_variant OV-AU 17 72310144 72310144 single base substitution C T intron_variant OV-AU 17 72310347 72310347 single base substitution T C 3_prime_UTR_variant OV-AU 17 72310347 72310347 single base substitution T C exon_variant OV-AU 17 72310347 72310347 single base substitution T C synonymous_variant L592L 1774T>C OV-AU 17 72310347 72310347 single base substitution T C synonymous_variant L604L 1810T>C OV-AU 17 72310347 72310347 single base substitution T C synonymous_variant L661L 1981T>C OV-US 17 72285862 72285862 single base substitution C T exon_variant OV-US 17 72285862 72285862 single base substitution C T synonymous_variant Y199Y 597C>T OV-US 17 72285862 72285862 single base substitution C T synonymous_variant Y256Y 768C>T OV-US 17 72285862 72285862 single base substitution C T synonymous_variant Y56Y 168C>T PACA-AU 17 72266444 72266444 single base substitution C T upstream_gene_variant PACA-AU 17 72267902 72267902 single base substitution C T upstream_gene_variant PACA-AU 17 72268887 72268887 single base substitution G T upstream_gene_variant PACA-AU 17 72272099 72272099 single base substitution C T intron_variant PACA-AU 17 72277395 72277395 single base substitution T C intron_variant PACA-AU 17 72277395 72277395 single base substitution T C upstream_gene_variant PACA-AU 17 72279782 72279782 single base substitution T C intron_variant PACA-AU 17 72282095 72282095 single base substitution C T intron_variant PACA-AU 17 72282107 72282107 single base substitution T G intron_variant PACA-AU 17 72283293 72283293 single base substitution C T intron_variant PACA-AU 17 72285854 72285854 single base substitution G A exon_variant PACA-AU 17 72285854 72285854 single base substitution G A missense_variant D197N 589G>A PACA-AU 17 72285854 72285854 single base substitution G A missense_variant D254N 760G>A PACA-AU 17 72285854 72285854 single base substitution G A missense_variant D54N 160G>A PACA-AU 17 72286845 72286845 insertion of <=200bp - A intron_variant PACA-AU 17 72287202 72287202 single base substitution A G 3_prime_UTR_variant PACA-AU 17 72287202 72287202 single base substitution A G synonymous_variant P218P 654A>G PACA-AU 17 72287202 72287202 single base substitution A G synonymous_variant P275P 825A>G PACA-AU 17 72287202 72287202 single base substitution A G synonymous_variant P75P 225A>G PACA-AU 17 72287609 72287609 single base substitution C A intron_variant PACA-AU 17 72290545 72290545 single base substitution C A intron_variant PACA-AU 17 72295370 72295370 insertion of <=200bp - GAT intron_variant PACA-AU 17 72301394 72301394 single base substitution G A 3_prime_UTR_variant PACA-AU 17 72301394 72301394 single base substitution G A missense_variant V199I 595G>A PACA-AU 17 72301394 72301394 single base substitution G A missense_variant V342I 1024G>A PACA-AU 17 72301394 72301394 single base substitution G A missense_variant V399I 1195G>A PACA-AU 17 72301743 72301743 single base substitution T A intron_variant PACA-AU 17 72302076 72302076 single base substitution G A intron_variant PACA-AU 17 72303415 72303415 single base substitution G T intron_variant PACA-AU 17 72305801 72305801 single base substitution C G intron_variant PACA-AU 17 72305801 72305801 single base substitution C G upstream_gene_variant PACA-AU 17 72306362 72306362 single base substitution G T intron_variant PACA-AU 17 72306362 72306362 single base substitution G T upstream_gene_variant PACA-AU 17 72307745 72307745 single base substitution T C intron_variant PACA-AU 17 72307745 72307745 single base substitution T C upstream_gene_variant PACA-AU 17 72309875 72309875 single base substitution C T intron_variant PACA-AU 17 72309875 72309875 single base substitution C T upstream_gene_variant PACA-AU 17 72311212 72311212 single base substitution C T downstream_gene_variant PACA-AU 17 72315434 72315434 single base substitution C T downstream_gene_variant PACA-CA 17 72266269 72266269 single base substitution G A upstream_gene_variant PACA-CA 17 72267077 72267077 single base substitution C T upstream_gene_variant PACA-CA 17 72267635 72267635 single base substitution C T upstream_gene_variant PACA-CA 17 72268312 72268312 single base substitution T C upstream_gene_variant PACA-CA 17 72270350 72270350 single base substitution C T upstream_gene_variant PACA-CA 17 72270687 72270687 single base substitution C T intron_variant PACA-CA 17 72270818 72270818 deletion of <=200bp A - intron_variant PACA-CA 17 72270826 72270826 insertion of <=200bp - A intron_variant PACA-CA 17 72274285 72274285 single base substitution T C intron_variant PACA-CA 17 72274285 72274285 single base substitution T C upstream_gene_variant PACA-CA 17 72277152 72277152 single base substitution G A intron_variant PACA-CA 17 72277152 72277152 single base substitution G A upstream_gene_variant PACA-CA 17 72277790 72277790 single base substitution G A 5_prime_UTR_variant PACA-CA 17 72277790 72277790 single base substitution G A intron_variant PACA-CA 17 72277790 72277790 single base substitution G A missense_variant R2Q 5G>A PACA-CA 17 72277987 72277987 single base substitution C T 5_prime_UTR_variant PACA-CA 17 72277987 72277987 single base substitution C T exon_variant PACA-CA 17 72277987 72277987 single base substitution C T missense_variant R11C 31C>T PACA-CA 17 72277987 72277987 single base substitution C T missense_variant R68C 202C>T PACA-CA 17 72280003 72280003 single base substitution G A intron_variant PACA-CA 17 72281151 72281151 single base substitution G A intron_variant PACA-CA 17 72283179 72283179 single base substitution G A intron_variant PACA-CA 17 72283179 72283179 single base substitution G A missense_variant E137K 409G>A PACA-CA 17 72283179 72283179 single base substitution G A missense_variant E194K 580G>A PACA-CA 17 72285673 72285673 single base substitution A G intron_variant PACA-CA 17 72287350 72287350 single base substitution A G intron_variant PACA-CA 17 72287946 72287946 single base substitution G T intron_variant PACA-CA 17 72288259 72288259 single base substitution C G intron_variant PACA-CA 17 72288782 72288782 single base substitution C G intron_variant PACA-CA 17 72289215 72289215 single base substitution G A intron_variant PACA-CA 17 72290149 72290149 single base substitution T G intron_variant PACA-CA 17 72294652 72294652 single base substitution G A intron_variant PACA-CA 17 72295183 72295183 single base substitution G T intron_variant PACA-CA 17 72297467 72297467 single base substitution A G intron_variant PACA-CA 17 72297467 72297467 single base substitution A T intron_variant PACA-CA 17 72298189 72298190 deletion of <=200bp GG - intron_variant PACA-CA 17 72298369 72298369 single base substitution A C intron_variant PACA-CA 17 72303610 72303610 single base substitution G A intron_variant PACA-CA 17 72305583 72305583 single base substitution G A intron_variant PACA-CA 17 72305583 72305583 single base substitution G A upstream_gene_variant PACA-CA 17 72305964 72305964 single base substitution C A intron_variant PACA-CA 17 72305964 72305964 single base substitution C A upstream_gene_variant PACA-CA 17 72309558 72309558 single base substitution A C intron_variant PACA-CA 17 72309558 72309558 single base substitution A C upstream_gene_variant PACA-CA 17 72309649 72309649 single base substitution C T intron_variant PACA-CA 17 72309649 72309649 single base substitution C T upstream_gene_variant PACA-CA 17 72315653 72315653 single base substitution C T downstream_gene_variant PAEN-AU 17 72273617 72273617 single base substitution T G intron_variant PAEN-AU 17 72273617 72273617 single base substitution T G upstream_gene_variant PAEN-AU 17 72307246 72307246 single base substitution C A intron_variant PAEN-AU 17 72307246 72307246 single base substitution C A upstream_gene_variant PAEN-AU 17 72309705 72309705 single base substitution G A intron_variant PAEN-AU 17 72309705 72309705 single base substitution G A upstream_gene_variant PAEN-IT 17 72293382 72293382 single base substitution G A intron_variant PBCA-DE 17 72281093 72281093 single base substitution C G intron_variant PBCA-DE 17 72285978 72285978 single base substitution G A intron_variant PBCA-DE 17 72293883 72293883 single base substitution C A intron_variant PBCA-DE 17 72298201 72298201 single base substitution G A intron_variant PBCA-DE 17 72298209 72298209 single base substitution A G intron_variant PBCA-DE 17 72298319 72298319 single base substitution C A intron_variant PBCA-DE 17 72306345 72306345 single base substitution G A intron_variant PBCA-DE 17 72306345 72306345 single base substitution G A upstream_gene_variant PBCA-DE 17 72306708 72306708 single base substitution C T intron_variant PBCA-DE 17 72306708 72306708 single base substitution C T upstream_gene_variant PBCA-DE 17 72308857 72308857 single base substitution G A intron_variant PBCA-DE 17 72308857 72308857 single base substitution G A upstream_gene_variant PBCA-DE 17 72312900 72312900 single base substitution A C downstream_gene_variant PRAD-CA 17 72269686 72269686 single base substitution C T upstream_gene_variant PRAD-CA 17 72272656 72272656 single base substitution G A intron_variant PRAD-CA 17 72272656 72272656 single base substitution G A upstream_gene_variant PRAD-CA 17 72279940 72279940 single base substitution A G intron_variant PRAD-CA 17 72282097 72282097 single base substitution C T intron_variant PRAD-CA 17 72282109 72282109 single base substitution T G intron_variant PRAD-CA 17 72282111 72282111 single base substitution G T intron_variant PRAD-CA 17 72300608 72300608 single base substitution C T intron_variant PRAD-CA 17 72304082 72304082 single base substitution G A intron_variant PRAD-CA 17 72306520 72306520 single base substitution G A intron_variant PRAD-CA 17 72306520 72306520 single base substitution G A upstream_gene_variant PRAD-UK 17 72273301 72273301 single base substitution G A intron_variant PRAD-UK 17 72273301 72273301 single base substitution G A upstream_gene_variant PRAD-UK 17 72276172 72276172 single base substitution G T intron_variant PRAD-UK 17 72276172 72276172 single base substitution G T upstream_gene_variant PRAD-UK 17 72285858 72285858 single base substitution C G exon_variant PRAD-UK 17 72285858 72285858 single base substitution C G stop_gained S198* 593C>G PRAD-UK 17 72285858 72285858 single base substitution C G stop_gained S255* 764C>G PRAD-UK 17 72285858 72285858 single base substitution C G stop_gained S55* 164C>G PRAD-UK 17 72290085 72290085 single base substitution G C intron_variant PRAD-UK 17 72304336 72304336 single base substitution A G intron_variant PRAD-UK 17 72304763 72304763 single base substitution C T intron_variant PRAD-UK 17 72310373 72310373 single base substitution C T 3_prime_UTR_variant PRAD-UK 17 72310373 72310373 single base substitution C T exon_variant PRAD-US 17 72277951 72277951 single base substitution G A 5_prime_UTR_variant PRAD-US 17 72277951 72277951 single base substitution G A missense_variant G56S 166G>A PRAD-US 17 72277951 72277951 single base substitution G A splice_region_variant READ-US 17 72295954 72295954 single base substitution G A 3_prime_UTR_variant READ-US 17 72295954 72295954 single base substitution G A synonymous_variant S131S 393G>A READ-US 17 72295954 72295954 single base substitution G A synonymous_variant S274S 822G>A READ-US 17 72295954 72295954 single base substitution G A synonymous_variant S331S 993G>A RECA-EU 17 72270103 72270103 single base substitution A T upstream_gene_variant RECA-EU 17 72275748 72275748 single base substitution C A intron_variant RECA-EU 17 72275748 72275748 single base substitution C A upstream_gene_variant RECA-EU 17 72283644 72283644 single base substitution G A intron_variant RECA-EU 17 72287477 72287477 single base substitution A G intron_variant RECA-EU 17 72296404 72296404 single base substitution T A intron_variant RECA-EU 17 72299087 72299087 single base substitution G T intron_variant RECA-EU 17 72307407 72307407 single base substitution A C intron_variant RECA-EU 17 72307407 72307407 single base substitution A C upstream_gene_variant RECA-EU 17 72311562 72311562 single base substitution G C downstream_gene_variant SKCA-BR 17 72265718 72265718 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 17 72265753 72265753 single base substitution C T upstream_gene_variant SKCA-BR 17 72267274 72267274 single base substitution G A upstream_gene_variant SKCA-BR 17 72268862 72268862 single base substitution A C upstream_gene_variant SKCA-BR 17 72269884 72269884 single base substitution C T upstream_gene_variant SKCA-BR 17 72272031 72272031 single base substitution G A intron_variant SKCA-BR 17 72275163 72275163 single base substitution G T intron_variant SKCA-BR 17 72275163 72275163 single base substitution G T upstream_gene_variant SKCA-BR 17 72275293 72275293 single base substitution G A intron_variant SKCA-BR 17 72275293 72275293 single base substitution G A upstream_gene_variant SKCA-BR 17 72276049 72276049 single base substitution A C intron_variant SKCA-BR 17 72276049 72276049 single base substitution A C upstream_gene_variant SKCA-BR 17 72276219 72276219 single base substitution T G intron_variant SKCA-BR 17 72276219 72276219 single base substitution T G upstream_gene_variant SKCA-BR 17 72276297 72276297 single base substitution A G intron_variant SKCA-BR 17 72276297 72276297 single base substitution A G upstream_gene_variant SKCA-BR 17 72276377 72276377 single base substitution A C intron_variant SKCA-BR 17 72276377 72276377 single base substitution A C upstream_gene_variant SKCA-BR 17 72278447 72278447 single base substitution G A intron_variant SKCA-BR 17 72279188 72279188 insertion of <=200bp - CTTGTT intron_variant SKCA-BR 17 72281585 72281585 single base substitution G A intron_variant SKCA-BR 17 72282085 72282085 insertion of <=200bp - TAC intron_variant SKCA-BR 17 72282085 72282087 deletion of <=200bp TAC - intron_variant SKCA-BR 17 72282107 72282111 deletion of <=200bp TATAG - intron_variant SKCA-BR 17 72282109 72282113 deletion of <=200bp TAGAG - intron_variant SKCA-BR 17 72282436 72282436 insertion of <=200bp - AAATAATAAT intron_variant SKCA-BR 17 72283107 72283107 single base substitution C T intron_variant SKCA-BR 17 72283708 72283708 single base substitution C T intron_variant SKCA-BR 17 72284546 72284546 single base substitution A G intron_variant SKCA-BR 17 72287322 72287322 single base substitution G A intron_variant SKCA-BR 17 72290247 72290247 single base substitution C T intron_variant SKCA-BR 17 72292519 72292521 deletion of <=200bp GGA - intron_variant SKCA-BR 17 72292778 72292778 single base substitution C T intron_variant SKCA-BR 17 72293430 72293430 single base substitution A G intron_variant SKCA-BR 17 72293975 72293975 single base substitution A G intron_variant SKCA-BR 17 72295264 72295264 single base substitution G A intron_variant SKCA-BR 17 72295444 72295444 single base substitution C T intron_variant SKCA-BR 17 72295549 72295549 single base substitution A C intron_variant SKCA-BR 17 72295561 72295561 single base substitution T C intron_variant SKCA-BR 17 72298181 72298181 single base substitution G A intron_variant SKCA-BR 17 72298201 72298201 single base substitution G A intron_variant SKCA-BR 17 72298209 72298209 single base substitution A G intron_variant SKCA-BR 17 72299768 72299768 insertion of <=200bp - CTG intron_variant SKCA-BR 17 72300324 72300325 deletion of <=200bp TC - intron_variant SKCA-BR 17 72300533 72300533 single base substitution C T intron_variant SKCA-BR 17 72301191 72301191 single base substitution G A intron_variant SKCA-BR 17 72303439 72303439 single base substitution G A intron_variant SKCA-BR 17 72303744 72303744 single base substitution A C intron_variant SKCA-BR 17 72304540 72304540 single base substitution C T intron_variant SKCA-BR 17 72305430 72305430 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 72305430 72305430 single base substitution C T missense_variant P274L 821C>T SKCA-BR 17 72305430 72305430 single base substitution C T missense_variant P417L 1250C>T SKCA-BR 17 72305430 72305430 single base substitution C T missense_variant P474L 1421C>T SKCA-BR 17 72305430 72305430 single base substitution C T upstream_gene_variant SKCA-BR 17 72306291 72306291 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 72306291 72306291 single base substitution G A missense_variant V352I 1054G>A SKCA-BR 17 72306291 72306291 single base substitution G A missense_variant V483I 1447G>A SKCA-BR 17 72306291 72306291 single base substitution G A missense_variant V495I 1483G>A SKCA-BR 17 72306291 72306291 single base substitution G A missense_variant V552I 1654G>A SKCA-BR 17 72306291 72306291 single base substitution G A upstream_gene_variant SKCA-BR 17 72308319 72308319 single base substitution G A intron_variant SKCA-BR 17 72308319 72308319 single base substitution G A missense_variant A546T 1636G>A SKCA-BR 17 72308319 72308319 single base substitution G A missense_variant A558T 1672G>A SKCA-BR 17 72308319 72308319 single base substitution G A missense_variant A615T 1843G>A SKCA-BR 17 72308319 72308319 single base substitution G A upstream_gene_variant SKCA-BR 17 72310299 72310299 single base substitution G A 3_prime_UTR_variant SKCA-BR 17 72310299 72310299 single base substitution G A exon_variant SKCA-BR 17 72310299 72310299 single base substitution G A missense_variant G393E 1178G>A SKCA-BR 17 72310299 72310299 single base substitution G A missense_variant G576R 1726G>A SKCA-BR 17 72310299 72310299 single base substitution G A missense_variant G588R 1762G>A SKCA-BR 17 72310299 72310299 single base substitution G A missense_variant G645R 1933G>A SKCA-BR 17 72310561 72310561 single base substitution G A intron_variant SKCA-BR 17 72310711 72310711 single base substitution C T intron_variant SKCA-BR 17 72312178 72312178 single base substitution G A downstream_gene_variant SKCA-BR 17 72312281 72312281 single base substitution C T downstream_gene_variant SKCA-BR 17 72314239 72314239 single base substitution C T downstream_gene_variant SKCA-BR 17 72315663 72315663 single base substitution C T downstream_gene_variant SKCA-BR 17 72315691 72315691 single base substitution G A downstream_gene_variant SKCA-BR 17 72315898 72315898 insertion of <=200bp - CA downstream_gene_variant SKCM-US 17 72278044 72278044 single base substitution G A 5_prime_UTR_variant SKCM-US 17 72278044 72278044 single base substitution G A exon_variant SKCM-US 17 72278044 72278044 single base substitution G A missense_variant D30N 88G>A SKCM-US 17 72278044 72278044 single base substitution G A missense_variant D87N 259G>A SKCM-US 17 72278045 72278045 single base substitution A G 5_prime_UTR_variant SKCM-US 17 72278045 72278045 single base substitution A G exon_variant SKCM-US 17 72278045 72278045 single base substitution A G missense_variant D30G 89A>G SKCM-US 17 72278045 72278045 single base substitution A G missense_variant D87G 260A>G SKCM-US 17 72278110 72278110 single base substitution C T 5_prime_UTR_variant SKCM-US 17 72278110 72278110 single base substitution C T exon_variant SKCM-US 17 72278110 72278110 single base substitution C T stop_gained Q109* 325C>T SKCM-US 17 72278110 72278110 single base substitution C T stop_gained Q52* 154C>T SKCM-US 17 72281237 72281237 single base substitution G A 5_prime_UTR_variant SKCM-US 17 72281237 72281237 single base substitution G A exon_variant SKCM-US 17 72281237 72281237 single base substitution G A stop_gained W138* 413G>A SKCM-US 17 72281237 72281237 single base substitution G A stop_gained W81* 242G>A SKCM-US 17 72285743 72285743 single base substitution G A exon_variant SKCM-US 17 72285743 72285743 single base substitution G A missense_variant E160K 478G>A SKCM-US 17 72285743 72285743 single base substitution G A missense_variant E17K 49G>A SKCM-US 17 72285743 72285743 single base substitution G A missense_variant E217K 649G>A SKCM-US 17 72287263 72287263 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72287263 72287263 single base substitution G A missense_variant G239R 715G>A SKCM-US 17 72287263 72287263 single base substitution G A missense_variant G296R 886G>A SKCM-US 17 72287263 72287263 single base substitution G A missense_variant G96R 286G>A SKCM-US 17 72295967 72295967 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72295967 72295967 single base substitution G A missense_variant E136K 406G>A SKCM-US 17 72295967 72295967 single base substitution G A missense_variant E279K 835G>A SKCM-US 17 72295967 72295967 single base substitution G A missense_variant E336K 1006G>A SKCM-US 17 72301378 72301378 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72301378 72301378 single base substitution G A synonymous_variant G193G 579G>A SKCM-US 17 72301378 72301378 single base substitution G A synonymous_variant G336G 1008G>A SKCM-US 17 72301378 72301378 single base substitution G A synonymous_variant G393G 1179G>A SKCM-US 17 72301382 72301382 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72301382 72301382 single base substitution G A missense_variant E195K 583G>A SKCM-US 17 72301382 72301382 single base substitution G A missense_variant E338K 1012G>A SKCM-US 17 72301382 72301382 single base substitution G A missense_variant E395K 1183G>A SKCM-US 17 72301464 72301464 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72301464 72301464 single base substitution G A missense_variant G222D 665G>A SKCM-US 17 72301464 72301464 single base substitution G A missense_variant G365D 1094G>A SKCM-US 17 72301464 72301464 single base substitution G A missense_variant G422D 1265G>A SKCM-US 17 72305472 72305472 single base substitution C T 3_prime_UTR_variant SKCM-US 17 72305472 72305472 single base substitution C T missense_variant T288I 863C>T SKCM-US 17 72305472 72305472 single base substitution C T missense_variant T431I 1292C>T SKCM-US 17 72305472 72305472 single base substitution C T missense_variant T488I 1463C>T SKCM-US 17 72305472 72305472 single base substitution C T upstream_gene_variant SKCM-US 17 72305507 72305507 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72305507 72305507 single base substitution G A missense_variant D300N 898G>A SKCM-US 17 72305507 72305507 single base substitution G A missense_variant D443N 1327G>A SKCM-US 17 72305507 72305507 single base substitution G A missense_variant D500N 1498G>A SKCM-US 17 72305507 72305507 single base substitution G A upstream_gene_variant SKCM-US 17 72305515 72305515 single base substitution C T 3_prime_UTR_variant SKCM-US 17 72305515 72305515 single base substitution C T synonymous_variant T302T 906C>T SKCM-US 17 72305515 72305515 single base substitution C T synonymous_variant T445T 1335C>T SKCM-US 17 72305515 72305515 single base substitution C T synonymous_variant T502T 1506C>T SKCM-US 17 72305515 72305515 single base substitution C T upstream_gene_variant SKCM-US 17 72305561 72305561 single base substitution C T intron_variant SKCM-US 17 72305561 72305561 single base substitution C T upstream_gene_variant SKCM-US 17 72305577 72305577 single base substitution C T intron_variant SKCM-US 17 72305577 72305577 single base substitution C T upstream_gene_variant SKCM-US 17 72306183 72306183 single base substitution C T 3_prime_UTR_variant SKCM-US 17 72306183 72306183 single base substitution C T intron_variant SKCM-US 17 72306183 72306183 single base substitution C T missense_variant R316W 946C>T SKCM-US 17 72306183 72306183 single base substitution C T missense_variant R459W 1375C>T SKCM-US 17 72306183 72306183 single base substitution C T missense_variant R516W 1546C>T SKCM-US 17 72306183 72306183 single base substitution C T upstream_gene_variant SKCM-US 17 72306269 72306269 single base substitution C T 3_prime_UTR_variant SKCM-US 17 72306269 72306269 single base substitution C T synonymous_variant T344T 1032C>T SKCM-US 17 72306269 72306269 single base substitution C T synonymous_variant T475T 1425C>T SKCM-US 17 72306269 72306269 single base substitution C T synonymous_variant T487T 1461C>T SKCM-US 17 72306269 72306269 single base substitution C T synonymous_variant T544T 1632C>T SKCM-US 17 72306269 72306269 single base substitution C T upstream_gene_variant SKCM-US 17 72308161 72308161 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72308161 72308161 single base substitution G A missense_variant R362Q 1085G>A SKCM-US 17 72308161 72308161 single base substitution G A missense_variant R493Q 1478G>A SKCM-US 17 72308161 72308161 single base substitution G A missense_variant R505Q 1514G>A SKCM-US 17 72308161 72308161 single base substitution G A missense_variant R562Q 1685G>A SKCM-US 17 72308161 72308161 single base substitution G A upstream_gene_variant SKCM-US 17 72308208 72308208 single base substitution G A 3_prime_UTR_variant SKCM-US 17 72308208 72308208 single base substitution G A missense_variant E378K 1132G>A SKCM-US 17 72308208 72308208 single base substitution G A missense_variant E509K 1525G>A SKCM-US 17 72308208 72308208 single base substitution G A missense_variant E521K 1561G>A SKCM-US 17 72308208 72308208 single base substitution G A missense_variant E578K 1732G>A SKCM-US 17 72308208 72308208 single base substitution G A upstream_gene_variant SKCM-US 17 72308292 72308292 single base substitution G A intron_variant SKCM-US 17 72308292 72308292 single base substitution G A missense_variant E537K 1609G>A SKCM-US 17 72308292 72308292 single base substitution G A missense_variant E549K 1645G>A SKCM-US 17 72308292 72308292 single base substitution G A missense_variant E606K 1816G>A SKCM-US 17 72308292 72308292 single base substitution G A upstream_gene_variant SKCM-US 17 72308294 72308294 single base substitution G A intron_variant SKCM-US 17 72308294 72308294 single base substitution G A synonymous_variant E537E 1611G>A SKCM-US 17 72308294 72308294 single base substitution G A synonymous_variant E549E 1647G>A SKCM-US 17 72308294 72308294 single base substitution G A synonymous_variant E606E 1818G>A SKCM-US 17 72308294 72308294 single base substitution G A upstream_gene_variant STAD-US 17 72278019 72278019 single base substitution G A 5_prime_UTR_variant STAD-US 17 72278019 72278019 single base substitution G A exon_variant STAD-US 17 72278019 72278019 single base substitution G A synonymous_variant S21S 63G>A STAD-US 17 72278019 72278019 single base substitution G A synonymous_variant S78S 234G>A STAD-US 17 72295860 72295860 single base substitution G T 3_prime_UTR_variant STAD-US 17 72295860 72295860 single base substitution G T missense_variant C100F 299G>T STAD-US 17 72295860 72295860 single base substitution G T missense_variant C243F 728G>T STAD-US 17 72295860 72295860 single base substitution G T missense_variant C300F 899G>T STAD-US 17 72295929 72295929 single base substitution T C 3_prime_UTR_variant STAD-US 17 72295929 72295929 single base substitution T C missense_variant V123A 368T>C STAD-US 17 72295929 72295929 single base substitution T C missense_variant V266A 797T>C STAD-US 17 72295929 72295929 single base substitution T C missense_variant V323A 968T>C STAD-US 17 72301516 72301516 single base substitution G A 3_prime_UTR_variant STAD-US 17 72301516 72301516 single base substitution G A synonymous_variant T239T 717G>A STAD-US 17 72301516 72301516 single base substitution G A synonymous_variant T382T 1146G>A STAD-US 17 72301516 72301516 single base substitution G A synonymous_variant T439T 1317G>A STAD-US 17 72301522 72301522 single base substitution C T 3_prime_UTR_variant STAD-US 17 72301522 72301522 single base substitution C T synonymous_variant G241G 723C>T STAD-US 17 72301522 72301522 single base substitution C T synonymous_variant G384G 1152C>T STAD-US 17 72301522 72301522 single base substitution C T synonymous_variant G441G 1323C>T STAD-US 17 72305439 72305439 single base substitution C T 3_prime_UTR_variant STAD-US 17 72305439 72305439 single base substitution C T missense_variant P277L 830C>T STAD-US 17 72305439 72305439 single base substitution C T missense_variant P420L 1259C>T STAD-US 17 72305439 72305439 single base substitution C T missense_variant P477L 1430C>T STAD-US 17 72305439 72305439 single base substitution C T upstream_gene_variant STAD-US 17 72306204 72306204 single base substitution C G 3_prime_UTR_variant STAD-US 17 72306204 72306204 single base substitution C G missense_variant L323V 967C>G STAD-US 17 72306204 72306204 single base substitution C G missense_variant L454V 1360C>G STAD-US 17 72306204 72306204 single base substitution C G missense_variant L466V 1396C>G STAD-US 17 72306204 72306204 single base substitution C G missense_variant L523V 1567C>G STAD-US 17 72306204 72306204 single base substitution C G upstream_gene_variant STAD-US 17 72308221 72308221 single base substitution C T missense_variant A513V 1538C>T STAD-US 17 72308221 72308221 single base substitution C T missense_variant A525V 1574C>T STAD-US 17 72308221 72308221 single base substitution C T missense_variant A582V 1745C>T STAD-US 17 72308221 72308221 single base substitution C T splice_region_variant STAD-US 17 72308221 72308221 single base substitution C T upstream_gene_variant STAD-US 17 72308264 72308264 single base substitution A G intron_variant STAD-US 17 72308264 72308264 single base substitution A G synonymous_variant V527V 1581A>G STAD-US 17 72308264 72308264 single base substitution A G synonymous_variant V539V 1617A>G STAD-US 17 72308264 72308264 single base substitution A G synonymous_variant V596V 1788A>G STAD-US 17 72308264 72308264 single base substitution A G upstream_gene_variant STAD-US 17 72308361 72308361 single base substitution C T intron_variant STAD-US 17 72308361 72308361 single base substitution C T missense_variant P560S 1678C>T STAD-US 17 72308361 72308361 single base substitution C T missense_variant P572S 1714C>T STAD-US 17 72308361 72308361 single base substitution C T missense_variant P629S 1885C>T STAD-US 17 72308361 72308361 single base substitution C T upstream_gene_variant THCA-SA 17 72301432 72301432 single base substitution A G 3_prime_UTR_variant THCA-SA 17 72301432 72301432 single base substitution A G synonymous_variant E211E 633A>G THCA-SA 17 72301432 72301432 single base substitution A G synonymous_variant E354E 1062A>G THCA-SA 17 72301432 72301432 single base substitution A G synonymous_variant E411E 1233A>G THCA-US 17 72278108 72278108 single base substitution T A 5_prime_UTR_variant THCA-US 17 72278108 72278108 single base substitution T A exon_variant THCA-US 17 72278108 72278108 single base substitution T A missense_variant I108N 323T>A THCA-US 17 72278108 72278108 single base substitution T A missense_variant I51N 152T>A UCEC-US 17 72277980 72277980 single base substitution C G 5_prime_UTR_variant UCEC-US 17 72277980 72277980 single base substitution C G exon_variant UCEC-US 17 72277980 72277980 single base substitution C G synonymous_variant V65V 195C>G UCEC-US 17 72277980 72277980 single base substitution C G synonymous_variant V8V 24C>G UCEC-US 17 72278044 72278044 single base substitution G A 5_prime_UTR_variant UCEC-US 17 72278044 72278044 single base substitution G A exon_variant UCEC-US 17 72278044 72278044 single base substitution G A missense_variant D30N 88G>A UCEC-US 17 72278044 72278044 single base substitution G A missense_variant D87N 259G>A UCEC-US 17 72278079 72278079 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 17 72278079 72278079 single base substitution C T exon_variant UCEC-US 17 72278079 72278079 single base substitution C T synonymous_variant F41F 123C>T UCEC-US 17 72278079 72278079 single base substitution C T synonymous_variant F98F 294C>T UCEC-US 17 72281206 72281206 single base substitution A G 5_prime_UTR_variant UCEC-US 17 72281206 72281206 single base substitution A G exon_variant UCEC-US 17 72281206 72281206 single base substitution A G missense_variant T128A 382A>G UCEC-US 17 72281206 72281206 single base substitution A G missense_variant T71A 211A>G UCEC-US 17 72283118 72283118 single base substitution C A intron_variant UCEC-US 17 72283118 72283118 single base substitution C A splice_region_variant UCEC-US 17 72283194 72283194 single base substitution G A intron_variant UCEC-US 17 72283194 72283194 single base substitution G A missense_variant V142M 424G>A UCEC-US 17 72283194 72283194 single base substitution G A missense_variant V199M 595G>A UCEC-US 17 72285759 72285759 single base substitution C T exon_variant UCEC-US 17 72285759 72285759 single base substitution C T missense_variant A165V 494C>T UCEC-US 17 72285759 72285759 single base substitution C T missense_variant A222V 665C>T UCEC-US 17 72285759 72285759 single base substitution C T missense_variant A22V 65C>T UCEC-US 17 72285853 72285853 single base substitution C T exon_variant UCEC-US 17 72285853 72285853 single base substitution C T synonymous_variant S196S 588C>T UCEC-US 17 72285853 72285853 single base substitution C T synonymous_variant S253S 759C>T UCEC-US 17 72285853 72285853 single base substitution C T synonymous_variant S53S 159C>T UCEC-US 17 72295872 72295872 single base substitution G A 3_prime_UTR_variant UCEC-US 17 72295872 72295872 single base substitution G A missense_variant R104Q 311G>A UCEC-US 17 72295872 72295872 single base substitution G A missense_variant R247Q 740G>A UCEC-US 17 72295872 72295872 single base substitution G A missense_variant R304Q 911G>A UCEC-US 17 72297260 72297260 single base substitution T C 3_prime_UTR_variant UCEC-US 17 72297260 72297260 single base substitution T C synonymous_variant L171L 511T>C UCEC-US 17 72297260 72297260 single base substitution T C synonymous_variant L314L 940T>C UCEC-US 17 72297260 72297260 single base substitution T C synonymous_variant L371L 1111T>C UCEC-US 17 72301466 72301466 single base substitution C A 3_prime_UTR_variant UCEC-US 17 72301466 72301466 single base substitution C A missense_variant P223T 667C>A UCEC-US 17 72301466 72301466 single base substitution C A missense_variant P366T 1096C>A UCEC-US 17 72301466 72301466 single base substitution C A missense_variant P423T 1267C>A UCEC-US 17 72301504 72301504 single base substitution G T 3_prime_UTR_variant UCEC-US 17 72301504 72301504 single base substitution G T missense_variant K235N 705G>T UCEC-US 17 72301504 72301504 single base substitution G T missense_variant K378N 1134G>T UCEC-US 17 72301504 72301504 single base substitution G T missense_variant K435N 1305G>T UCEC-US 17 72305444 72305444 single base substitution G A 3_prime_UTR_variant UCEC-US 17 72305444 72305444 single base substitution G A missense_variant V279I 835G>A UCEC-US 17 72305444 72305444 single base substitution G A missense_variant V422I 1264G>A UCEC-US 17 72305444 72305444 single base substitution G A missense_variant V479I 1435G>A UCEC-US 17 72305444 72305444 single base substitution G A upstream_gene_variant UCEC-US 17 72305490 72305490 single base substitution T A 3_prime_UTR_variant UCEC-US 17 72305490 72305490 single base substitution T A missense_variant F294Y 881T>A UCEC-US 17 72305490 72305490 single base substitution T A missense_variant F437Y 1310T>A UCEC-US 17 72305490 72305490 single base substitution T A missense_variant F494Y 1481T>A UCEC-US 17 72305490 72305490 single base substitution T A upstream_gene_variant UCEC-US 17 72306193 72306193 single base substitution A C 3_prime_UTR_variant UCEC-US 17 72306193 72306193 single base substitution A C missense_variant D319A 956A>C UCEC-US 17 72306193 72306193 single base substitution A C missense_variant D450A 1349A>C UCEC-US 17 72306193 72306193 single base substitution A C missense_variant D462A 1385A>C UCEC-US 17 72306193 72306193 single base substitution A C missense_variant D519A 1556A>C UCEC-US 17 72306193 72306193 single base substitution A C upstream_gene_variant UCEC-US 17 72306263 72306263 single base substitution C T 3_prime_UTR_variant UCEC-US 17 72306263 72306263 single base substitution C T synonymous_variant L342L 1026C>T UCEC-US 17 72306263 72306263 single base substitution C T synonymous_variant L473L 1419C>T UCEC-US 17 72306263 72306263 single base substitution C T synonymous_variant L485L 1455C>T UCEC-US 17 72306263 72306263 single base substitution C T synonymous_variant L542L 1626C>T UCEC-US 17 72306263 72306263 single base substitution C T upstream_gene_variant UCEC-US 17 72306268 72306268 single base substitution C T 3_prime_UTR_variant UCEC-US 17 72306268 72306268 single base substitution C T missense_variant T344I 1031C>T UCEC-US 17 72306268 72306268 single base substitution C T missense_variant T475I 1424C>T UCEC-US 17 72306268 72306268 single base substitution C T missense_variant T487I 1460C>T UCEC-US 17 72306268 72306268 single base substitution C T missense_variant T544I 1631C>T UCEC-US 17 72306268 72306268 single base substitution C T upstream_gene_variant UCEC-US 17 72308222 72308222 single base substitution G A splice_region_variant UCEC-US 17 72308222 72308222 single base substitution G A synonymous_variant A513A 1539G>A UCEC-US 17 72308222 72308222 single base substitution G A synonymous_variant A525A 1575G>A UCEC-US 17 72308222 72308222 single base substitution G A synonymous_variant A582A 1746G>A UCEC-US 17 72308222 72308222 single base substitution G A upstream_gene_variant UCEC-US 17 72308246 72308246 single base substitution C T intron_variant UCEC-US 17 72308246 72308246 single base substitution C T synonymous_variant T521T 1563C>T UCEC-US 17 72308246 72308246 single base substitution C T synonymous_variant T533T 1599C>T UCEC-US 17 72308246 72308246 single base substitution C T synonymous_variant T590T 1770C>T UCEC-US 17 72308246 72308246 single base substitution C T upstream_gene_variant UCEC-US 17 72308306 72308306 single base substitution C T intron_variant UCEC-US 17 72308306 72308306 single base substitution C T synonymous_variant F541F 1623C>T UCEC-US 17 72308306 72308306 single base substitution C T synonymous_variant F553F 1659C>T UCEC-US 17 72308306 72308306 single base substitution C T synonymous_variant F610F 1830C>T UCEC-US 17 72308306 72308306 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand CSCC-11-T COSM984009 c.1659C>T p.F553F Substitution - coding silent 17:74312167-74312167 + TCGA-B5-A11E-01 COSM984002 c.1385A>C p.D462A Substitution - Missense 17:74310054-74310054 + S02273 COSM5681710 c.1523A>T p.K508M Substitution - Missense 17:74312031-74312031 + TCGA-EB-A3Y6-01 COSM3521738 c.1647G>A p.E549E Substitution - coding silent 17:74312155-74312155 + TCGA-HJ-7597-01 COSM4069305 c.1152C>T p.G384G Substitution - coding silent 17:74305383-74305383 + 67 COSM5013228 c.1388A>G p.N463S Substitution - Missense 17:74310057-74310057 + TCGA-EE-A2MR-06 COSM1710732 c.1561G>A p.E521K Substitution - Missense 17:74312069-74312069 + YUGOE COSM1710729 c.562C>T p.Q188* Substitution - Nonsense 17:74289688-74289688 + TCGA-33-4582-01 COSM707355 c.1508A>T p.E503V Substitution - Missense 17:74312016-74312016 + ESCC_27 COSM5627200 c.628G>A p.E210K Substitution - Missense 17:74291037-74291037 + MO_1012 COSM5570183 c.1597A>G p.T533A Substitution - Missense 17:74312105-74312105 + RK080_C01 COSM1630379 c.1143G>A p.L381L Substitution - coding silent 17:74305374-74305374 + TCGA-EW-A1PB-01 COSM1479952 c.1584G>A p.R528R Substitution - coding silent 17:74312092-74312092 + PDA_021 COSM4999071 c.1317C>A p.F439L Substitution - Missense 17:74309358-74309358 + 2492721 COSM5722674 c.218G>A p.G73E Substitution - Missense 17:74285074-74285074 + TCGA-BR-8286-01 COSM4069299 c.797T>C p.V266A Substitution - Missense 17:74299790-74299790 + 3206A7_017_T COSM5040812 c.6G>C p.E2D Substitution - Missense 17:74281823-74281823 + YUPAT COSM1710730 c.788G>A p.R263Q Substitution - Missense 17:74299781-74299781 + 1N45-VS-1T45 COSM4975809 c.1507G>C p.E503Q Substitution - Missense 17:74312015-74312015 + TCGA-DK-A3IU-01 COSM3796035 c.607C>T p.L203L Substitution - coding silent 17:74289733-74289733 + TCGA-19-4068-01 COSM2156450 c.408C>T p.D136D Substitution - coding silent 17:74287039-74287039 + TCGA-AP-A0LM-01 COSM983987 c.588C>T p.S196S Substitution - coding silent 17:74289714-74289714 + ESO-732 COSM1250433 c.1757A>T p.E586V Substitution - Missense 17:74314155-74314155 + CHC155T COSM3668049 c.45G>T p.G15G Substitution - coding silent 17:74281862-74281862 + Pat_28_B COSM5853397 c.32G>A p.R11H Substitution - Missense 17:74281849-74281849 + BD246T COSM5496296 c.1777G>T p.G593W Substitution - Missense 17:74314175-74314175 + TCGA-13-1496-01 COSM70494 c.1087C>T p.H363Y Substitution - Missense 17:74305318-74305318 + CN-AML-CR-10-Dx COSM5426423 c.621C>A p.N207K Substitution - Missense 17:74291030-74291030 + DN110DC COSM2977316 c.1517G>A p.R506Q Substitution - Missense 17:74312025-74312025 + CHC1424T COSM3766172 c.1644C>A p.A548A Substitution - coding silent 17:74312152-74312152 + 2_PRE-TREATMENT COSM1721832 c.1357G>A p.E453K Substitution - Missense 17:74310026-74310026 + CHC155T COSM217143 c.44G>T p.G15V Substitution - Missense 17:74281861-74281861 + HN_62741 COSM122647 c.569C>T p.A190V Substitution - Missense 17:74289695-74289695 + TCGA-G2-A2ES-01 COSM1303293 c.1524G>C p.K508N Substitution - Missense 17:74312032-74312032 + HCT-15 COSM1680064 c.542C>T p.A181V Substitution - Missense 17:74289668-74289668 + 3844_T COSM3958711 c.529A>C p.K177Q Substitution - Missense 17:74289655-74289655 + TCGA-IR-A3LA-01 COSM4844548 c.430G>C p.E144Q Substitution - Missense 17:74287061-74287061 + YUGOE COSM1710732 c.1561G>A p.E521K Substitution - Missense 17:74312069-74312069 + ESO-1733 COSM1250432 c.1512C>G p.T504T Substitution - coding silent 17:74312020-74312020 + TCGA-CD-A4MG-01 COSM4069310 c.1617A>G p.V539V Substitution - coding silent 17:74312125-74312125 + TCGA-BR-4361-01 COSM4069304 c.1146G>A p.T382T Substitution - coding silent 17:74305377-74305377 + LUAD-S01467 COSM399357 c.127G>A p.E43K Substitution - Missense 17:74281944-74281944 + KYSE-150 COSM2977296 c.1079T>G p.F360C Substitution - Missense 17:74305310-74305310 + CSCC-11-T COSM4505253 c.687C>T p.S229S Substitution - coding silent 17:74291096-74291096 + TCGA-AX-A0J0-01 COSM983984 c.348C>A p.I116I Substitution - coding silent 17:74286979-74286979 + RK042_C01 COSM1630380 c.1212G>T p.K404N Substitution - Missense 17:74309253-74309253 + LUAD-YINHD COSM349433 c.1390G>T p.G464W Substitution - Missense 17:74310059-74310059 + ICGC_0025 COSM1158829 c.654A>G p.P218P Substitution - coding silent 17:74291063-74291063 + ESCC_BICR_059T COSM5432456 c.964T>G p.S322A Substitution - Missense 17:74301145-74301145 + CSCC-62-T COSM4459800 c.1140C>T p.F380F Substitution - coding silent 17:74305371-74305371 + 2492721 COSM4270939 c.1281G>A p.R427R Substitution - coding silent 17:74309322-74309322 + BD101T COSM5507384 c.1554G>A p.R518R Substitution - coding silent 17:74312062-74312062 + pfg180T COSM4757297 c.1552C>T p.R518W Substitution - Missense 17:74312060-74312060 + HCT15 COSM1680064 c.542C>T p.A181V Substitution - Missense 17:74289668-74289668 + T3246 COSM4678626 c.161C>T p.S54L Substitution - Missense 17:74281978-74281978 + 1517_CLM COSM5755128 c.862C>T p.Q288* Substitution - Nonsense 17:74299855-74299855 + TCGA-AX-A05Z-01 COSM983992 c.740G>A p.R247Q Substitution - Missense 17:74299733-74299733 + TCGA-DK-A1A3-01 COSM417350 c.1193C>T p.S398L Substitution - Missense 17:74305424-74305424 + TCGA-FP-7829-01 COSM4069309 c.1574C>T p.A525V Substitution - Missense 17:74312082-74312082 + 2492722 COSM5722674 c.218G>A p.G73E Substitution - Missense 17:74285074-74285074 + SNUH_G73_S1 COSM4000289 c.865-5A>G p.? Unknown 17:74301041-74301041 + 8012211 COSM1158829 c.654A>G p.P218P Substitution - coding silent 17:74291063-74291063 + YUKAT COSM5387222 c.406G>A p.D136N Substitution - Missense 17:74287037-74287037 + TCGA-B5-A0JY-01 COSM983998 c.1096C>A p.P366T Substitution - Missense 17:74305327-74305327 + TCGA-GF-A6C9-06 COSM4902223 c.1008G>A p.G336G Substitution - coding silent 17:74305239-74305239 + ESCC_BICR_023T COSM5436392 c.1438G>C p.E480Q Substitution - Missense 17:74310107-74310107 + 3N25-VS-3T25 COSM4979951 c.288C>T p.F96F Substitution - coding silent 17:74285144-74285144 + TCGA-D1-A16X-01 COSM983979 c.88G>A p.D30N Substitution - Missense 17:74281905-74281905 + TCGA-HU-A4GT-01 COSM4069308 c.1396C>G p.L466V Substitution - Missense 17:74310065-74310065 + BCB157T COSM4793529 c.131G>A p.R44Q Substitution - Missense 17:74281948-74281948 + SNUH_G76_S1 COSM4130569 c.1062A>G p.E354E Substitution - coding silent 17:74305293-74305293 + SNUH_G16_S1 COSM3680551 c.1572G>A p.K524K Substitution - coding silent 17:74312080-74312080 + LUAD-RT-S01777 COSM382030 c.253G>A p.V85M Substitution - Missense 17:74285109-74285109 + TCGA-FU-A3HZ-01 COSM4838832 c.1070T>G p.V357G Substitution - Missense 17:74305301-74305301 + TCGA-D1-A160-01 COSM983986 c.494C>T p.A165V Substitution - Missense 17:74289620-74289620 + T2269 COSM4678624 c.48G>A p.K16K Substitution - coding silent 17:74281865-74281865 + LUAD-S01413 COSM347070 c.1543C>T p.R515W Substitution - Missense 17:74312051-74312051 + CHC155T COSM3668049 c.45G>T p.G15G Substitution - coding silent 17:74281862-74281862 + TCGA-AZ-4315-01 COSM983980 c.123C>T p.F41F Substitution - coding silent 17:74281940-74281940 + TCGA-DC-6155-01 COSM1563662 c.822G>A p.S274S Substitution - coding silent 17:74299815-74299815 + TCGA-D3-A51R-06 COSM195017 c.1012G>A p.E338K Substitution - Missense 17:74305243-74305243 + 2492720 COSM5722674 c.218G>A p.G73E Substitution - Missense 17:74285074-74285074 + TCGA-AP-A056-01 COSM984009 c.1659C>T p.F553F Substitution - coding silent 17:74312167-74312167 + TCGA-C5-A1MH-01 COSM4820770 c.486G>C p.K162N Substitution - Missense 17:74289612-74289612 + TCGA-DJ-A1QO-01 COSM3370890 c.152T>A p.I51N Substitution - Missense 17:74281969-74281969 + MO_1012 COSM5573574 c.1212-1G>T p.? Unknown 17:74309252-74309252 + TCGA-FW-A3R5-06 COSM3890322 c.835G>A p.E279K Substitution - Missense 17:74299828-74299828 + 46M COSM5587657 c.1818G>A p.*606* Substitution - coding silent 17:74314216-74314216 + AOCS-094-6-X COSM4139796 c.1810T>C p.L604L Substitution - coding silent 17:74314208-74314208 + ASHPC_0007_Pa_P COSM3787425 c.409G>A p.E137K Substitution - Missense 17:74287040-74287040 + CSCC-27-T COSM4470354 c.1656C>T p.F552F Substitution - coding silent 17:74312164-74312164 + 8012210 COSM1158829 c.654A>G p.P218P Substitution - coding silent 17:74291063-74291063 + TCGA-AP-A056-01 COSM983995 c.940T>C p.L314L Substitution - coding silent 17:74301121-74301121 + TCGA-P4-A5E8-01 COSM4414572 c.1419G>T p.L473L Substitution - coding silent 17:74310088-74310088 + WT051 COSM4130570 c.1672G>A p.A558T Substitution - Missense 17:74312180-74312180 + ccRCC-8 COSM1661509 c.55A>G p.N19D Substitution - Missense 17:74281872-74281872 + CSCC-27-T COSM4465697 c.1396C>T p.L466F Substitution - Missense 17:74310065-74310065 + DLD1 COSM1680064 c.542C>T p.A181V Substitution - Missense 17:74289668-74289668 + LUAD-NYU1219 COSM369942 c.66C>T p.D22D Substitution - coding silent 17:74281883-74281883 + S02243 COSM5677727 c.948T>C p.N316N Substitution - coding silent 17:74301129-74301129 + HCC128T COSM1610718 c.1384G>T p.D462Y Substitution - Missense 17:74310053-74310053 + SC_9060 COSM3521733 c.1375C>T p.R459W Substitution - Missense 17:74310044-74310044 + TCGA-DD-A4NF-01 COSM4912740 c.289C>T p.R97W Substitution - Missense 17:74285145-74285145 + LUAD-F00368 COSM341108 c.340G>T p.G114C Substitution - Missense 17:74285196-74285196 + 2497767 COSM4423138 c.124G>A p.V42M Substitution - Missense 17:74281941-74281941 + TCGA-B5-A11U-01 COSM984007 c.1575G>A p.A525A Substitution - coding silent 17:74312083-74312083 + CSCC-35-T COSM707354 c.1780G>A p.E594K Substitution - Missense 17:74314178-74314178 + LS180 COSM4614312 c.233_234insG p.W81fs*24 Insertion - Frameshift 17:74285089-74285090 + 2492723 COSM5722674 c.218G>A p.G73E Substitution - Missense 17:74285074-74285074 + TCGA-BS-A0UV-01 COSM984000 c.1264G>A p.V422I Substitution - Missense 17:74309305-74309305 + HCA7 COSM4630338 c.884G>A p.R295Q Substitution - Missense 17:74301065-74301065 + TCGA-CG-4455-01 COSM4069298 c.728G>T p.C243F Substitution - Missense 17:74299721-74299721 + B80-13-Tumor COSM1750283 c.904G>A p.E302K Substitution - Missense 17:74301085-74301085 + YUFERY COSM5387223 c.1095C>T p.G365G Substitution - coding silent 17:74305326-74305326 + LUAD-F00089 COSM339659 c.1459A>G p.T487A Substitution - Missense 17:74310128-74310128 + LIM2551 COSM4644104 c.1376G>A p.R459Q Substitution - Missense 17:74310045-74310045 + T3152 COSM3787425 c.409G>A p.E137K Substitution - Missense 17:74287040-74287040 + T2926 COSM4678627 c.658G>A p.V220M Substitution - Missense 17:74291067-74291067 + TCGA-EE-A2MS-06 COSM3521715 c.154C>T p.Q52* Substitution - Nonsense 17:74281971-74281971 + TCGA-AZ-6605-01 COSM3755817 c.834C>T p.T278T Substitution - coding silent 17:74299827-74299827 + TCGA-DD-A3A9-01 COSM4920478 c.526A>G p.R176G Substitution - Missense 17:74289652-74289652 + TCGA-AX-A05Z-01 COSM983981 c.211A>G p.T71A Substitution - Missense 17:74285067-74285067 + ccRCC-55 COSM983978 c.66C>A p.D22E Substitution - Missense 17:74281883-74281883 + CHC1148T COSM4954631 c.16G>A p.V6M Substitution - Missense 17:74281833-74281833 + Pat_41_B COSM1385739 c.1447C>T p.P483S Substitution - Missense 17:74310116-74310116 + TCGA-66-2785-01 COSM707363 c.564G>T p.Q188H Substitution - Missense 17:74289690-74289690 + TCGA-FS-A1ZC-06 COSM3521730 c.1292C>T p.T431I Substitution - Missense 17:74309333-74309333 + TCGA-CM-6162-01 COSM1385732 c.43G>A p.G15R Substitution - Missense 17:74281860-74281860 + 134398 COSM319963 c.1090C>T p.H364Y Substitution - Missense 17:74305321-74305321 + TCGA-EB-A4P0-01 COSM3521734 c.1461C>T p.T487T Substitution - coding silent 17:74310130-74310130 + Pat_60_A COSM5853400 c.1763G>C p.G588A Substitution - Missense 17:74314161-74314161 + TCGA-A5-A0VQ-01 COSM984004 c.1460C>T p.T487I Substitution - Missense 17:74310129-74310129 + TCGA-D3-A3C7-06 COSM3521732 c.1335C>T p.T445T Substitution - coding silent 17:74309376-74309376 + 2492723 COSM4270939 c.1281G>A p.R427R Substitution - coding silent 17:74309322-74309322 + TCGA-CM-5861-01 COSM1385739 c.1447C>T p.P483S Substitution - Missense 17:74310116-74310116 + TCGA-D3-A2JF-06 COSM3521717 c.242G>A p.W81* Substitution - Nonsense 17:74285098-74285098 + TCGA-D3-A5GS-06 COSM3521723 c.715G>A p.G239R Substitution - Missense 17:74291124-74291124 + TCGA-A6-6780-01 COSM1385738 c.1401C>T p.I467I Substitution - coding silent 17:74310070-74310070 + RK042_C COSM1630380 c.1212G>T p.K404N Substitution - Missense 17:74309253-74309253 + 2171663 COSM4423070 c.1288G>A p.G430R Substitution - Missense 17:74309329-74309329 + TCGA-13-1408-01 COSM116620 c.142G>C p.D48H Substitution - Missense 17:74281959-74281959 + 12924 COSM5614503 c.1234G>T p.D412Y Substitution - Missense 17:74309275-74309275 + SW48 COSM195011 c.42C>T p.F14F Substitution - coding silent 17:74281859-74281859 + SNUH_G16_S1 COSM4000289 c.865-5A>G p.? Unknown 17:74301041-74301041 + 587376 COSM417350 c.1193C>T p.S398L Substitution - Missense 17:74305424-74305424 + TCGA-AA-3713-01 COSM1385735 c.470_471insC p.Q159fs*52 Insertion - Frameshift 17:74289596-74289597 + RK308_C01 COSM3742430 c.787C>T p.R263* Substitution - Nonsense 17:74299780-74299780 + HCC94T COSM1250432 c.1512C>G p.T504T Substitution - coding silent 17:74312020-74312020 + 2_RESISTANT COSM1721832 c.1357G>A p.E453K Substitution - Missense 17:74310026-74310026 + CSCC-27-T COSM3521731 c.1327G>A p.D443N Substitution - Missense 17:74309368-74309368 + TCGA-A6-6781-01 COSM1385736 c.854C>T p.T285M Substitution - Missense 17:74299847-74299847 + SNU-175 COSM2977232 c.223A>G p.N75D Substitution - Missense 17:74285079-74285079 + CSCC-45-T COSM4569493 c.1799T>G p.V600G Substitution - Missense 17:74314197-74314197 + YULAN COSM1710731 c.931A>C p.K311Q Substitution - Missense 17:74301112-74301112 + S01861 COSM4069311 c.1714C>T p.P572S Substitution - Missense 17:74312222-74312222 + CHC155T COSM217143 c.44G>T p.G15V Substitution - Missense 17:74281861-74281861 + TCGA-EE-A3JI-06 COSM2977315 c.1514G>A p.R505Q Substitution - Missense 17:74312022-74312022 + sysucc-834T COSM5485902 c.334C>T p.Q112* Substitution - Nonsense 17:74285190-74285190 + TCGA-FD-A3SS-01 COSM3796036 c.924C>T p.I308I Substitution - coding silent 17:74301105-74301105 + 7T COSM3712435 c.1153G>A p.D385N Substitution - Missense 17:74305384-74305384 + TCGA-EE-A2GC-06 COSM3521731 c.1327G>A p.D443N Substitution - Missense 17:74309368-74309368 + CHC155T COSM217143 c.44G>T p.G15V Substitution - Missense 17:74281861-74281861 + YUKIL COSM1710728 c.103C>T p.P35S Substitution - Missense 17:74281920-74281920 + TCGA-FU-A3HZ-01 COSM4839893 c.383A>C p.D128A Substitution - Missense 17:74287014-74287014 + TCGA-D1-A0ZP-01 COSM983977 c.24C>G p.V8V Substitution - coding silent 17:74281841-74281841 + TCGA-C5-A1ML-01 COSM4837467 c.1712C>T p.T571M Substitution - Missense 17:74312220-74312220 + TCGA-ER-A194-01 COSM3521733 c.1375C>T p.R459W Substitution - Missense 17:74310044-74310044 + TCGA-04-1347-01 COSM81104 c.597C>T p.Y199Y Substitution - coding silent 17:74289723-74289723 + 1N57-VS-1T57 COSM3773262 c.589G>A p.D197N Substitution - Missense 17:74289715-74289715 + T351 COSM4678625 c.149G>A p.G50D Substitution - Missense 17:74281966-74281966 + sysucc-1370T COSM3521737 c.1645G>A p.E549K Substitution - Missense 17:74312153-74312153 + PTC-7C COSM4130569 c.1062A>G p.E354E Substitution - coding silent 17:74305293-74305293 + B80-13 COSM1750283 c.904G>A p.E302K Substitution - Missense 17:74301085-74301085 + TCGA-IR-A3LA-01 COSM4845500 c.181G>T p.E61* Substitution - Nonsense 17:74281998-74281998 + TCGA-IR-A3LA-01 COSM4844513 c.81G>C p.L27L Substitution - coding silent 17:74281898-74281898 + TCGA-AR-A24R-01 COSM1479953 c.1761G>A p.E587E Substitution - coding silent 17:74314159-74314159 + LS174T COSM4614312 c.233_234insG p.W81fs*24 Insertion - Frameshift 17:74285089-74285090 + LIM1899 COSM4640127 c.15C>T p.Y5Y Substitution - coding silent 17:74281832-74281832 + SW1417 COSM3388126 c.1024G>A p.V342I Substitution - Missense 17:74305255-74305255 + 8065650 COSM3388126 c.1024G>A p.V342I Substitution - Missense 17:74305255-74305255 + sysucc-966T COSM5487064 c.1641G>C p.K547N Substitution - Missense 17:74312149-74312149 + C008 COSM5522532 c.888G>A p.K296K Substitution - coding silent 17:74301069-74301069 + CHC1148T COSM4954631 c.16G>A p.V6M Substitution - Missense 17:74281833-74281833 + LUAD-NYU408 COSM374257 c.910G>A p.V304M Substitution - Missense 17:74301091-74301091 + SNUH_G76_S1 COSM4417413 c.1347+7C>T p.? Unknown 17:74309395-74309395 + 1517_PT COSM5755128 c.862C>T p.Q288* Substitution - Nonsense 17:74299855-74299855 + S0029 COSM5882907 c.1585G>A p.D529N Substitution - Missense 17:74312093-74312093 + TCGA-D1-A17Q-01 COSM983980 c.123C>T p.F41F Substitution - coding silent 17:74281940-74281940 + 2492722 COSM4270939 c.1281G>A p.R427R Substitution - coding silent 17:74309322-74309322 + TCGA-AP-A0LG-01 COSM984001 c.1310T>A p.F437Y Substitution - Missense 17:74309351-74309351 + TCGA-EE-A29E-06 COSM983979 c.88G>A p.D30N Substitution - Missense 17:74281905-74281905 + TCGA-19-4068 COSM2156450 c.408C>T p.D136D Substitution - coding silent 17:74287039-74287039 + TCGA-27-2518-01 COSM3403187 c.1629G>A p.A543A Substitution - coding silent 17:74312137-74312137 + TCGA-22-5478-01 COSM707356 c.1287C>T p.D429D Substitution - coding silent 17:74309328-74309328 + PD7305a COSM2977316 c.1517G>A p.R506Q Substitution - Missense 17:74312025-74312025 + HCC128 COSM1610718 c.1384G>T p.D462Y Substitution - Missense 17:74310053-74310053 + 8015299 COSM3773262 c.589G>A p.D197N Substitution - Missense 17:74289715-74289715 + T3498 COSM4678628 c.1166G>A p.R389H Substitution - Missense 17:74305397-74305397 + TCGA-AP-A0LM-01 COSM984008 c.1599C>T p.T533T Substitution - coding silent 17:74312107-74312107 + TCGA-HU-A4H0-01 COSM2977304 c.1259C>T p.P420L Substitution - Missense 17:74309300-74309300 + OSCC-GB_00530111 COSM1385733 c.325G>A p.A109T Substitution - Missense 17:74285181-74285181 + TCGA-CM-5861-01 COSM1385732 c.43G>A p.G15R Substitution - Missense 17:74281860-74281860 + TCGA-DK-A1A5-01 COSM417351 c.932A>G p.K311R Substitution - Missense 17:74301113-74301113 + TCGA-EE-A3JD-06 COSM4393962 c.1094G>A p.G365D Substitution - Missense 17:74305325-74305325 + 3N29-VS-3T29 COSM4980473 c.196C>A p.R66R Substitution - coding silent 17:74285052-74285052 + Br27P COSM40033 c.4G>A p.E2K Substitution - Missense 17:74281821-74281821 + TCGA-LP-A4AX-01 COSM4829815 c.610+1G>T p.? Unknown 17:74289737-74289737 + 2492720 COSM4270939 c.1281G>A p.R427R Substitution - coding silent 17:74309322-74309322 + T3111 COSM3787425 c.409G>A p.E137K Substitution - Missense 17:74287040-74287040 + 0076_CRUK_PC_0076_T1_DNA COSM5422727 c.593C>G p.S198* Substitution - Nonsense 17:74289719-74289719 + TCGA-FS-A1ZY-06 COSM3521714 c.89A>G p.D30G Substitution - Missense 17:74281906-74281906 + TCGA-IR-A3LB-01 COSM4829337 c.1557G>A p.L519L Substitution - coding silent 17:74312065-74312065 + 22 COSM983992 c.740G>A p.R247Q Substitution - Missense 17:74299733-74299733 + TCGA-D9-A4Z3-01 COSM3521722 c.478G>A p.E160K Substitution - Missense 17:74289604-74289604 + TCGA-B6-A0IE-01 COSM5833387 c.467+2delT p.? Unknown 17:74287100-74287100 + 2171666 COSM4423138 c.124G>A p.V42M Substitution - Missense 17:74281941-74281941 + 19 COSM5747898 c.1347+2T>C p.? Unknown 17:74309390-74309390 + 37M COSM5583452 c.786C>T p.H262H Substitution - coding silent 17:74299779-74299779 + RK243_C01 COSM4779884 c.290G>A p.R97Q Substitution - Missense 17:74285146-74285146 + LUAD-NYU508 COSM374784 c.1306G>T p.D436Y Substitution - Missense 17:74309347-74309347 + TCGA-DK-A3IN-01 COSM3796034 c.232G>C p.E78Q Substitution - Missense 17:74285088-74285088 + 587376 COSM1204165 c.437A>G p.D146G Substitution - Missense 17:74287068-74287068 + TCGA-FS-A1ZZ-06 COSM3521737 c.1645G>A p.E549K Substitution - Missense 17:74312153-74312153 + UM-SCC-17B COSM4599046 c.731G>C p.W244S Substitution - Missense 17:74299724-74299724 + C135 COSM4617803 c.898C>T p.P300S Substitution - Missense 17:74301079-74301079 + TCGA-66-2773-01 COSM707354 c.1780G>A p.E594K Substitution - Missense 17:74314178-74314178 + NOKSI COSM4595868 c.1045G>A p.A349T Substitution - Missense 17:74305276-74305276 + TCGA-AP-A0LM-01 COSM984003 c.1455C>T p.L485L Substitution - coding silent 17:74310124-74310124 + TCGA-HT-7477-01 COSM3388126 c.1024G>A p.V342I Substitution - Missense 17:74305255-74305255 + SM-4AX84 COSM4412706 c.1513C>T p.R505W Substitution - Missense 17:74312021-74312021 + PTC-28C COSM4130570 c.1672G>A p.A558T Substitution - Missense 17:74312180-74312180 + T2769 COSM195010 c.22G>A p.V8I Substitution - Missense 17:74281839-74281839 + TCGA-D1-A17Q-01 COSM983985 c.424G>A p.V142M Substitution - Missense 17:74287055-74287055 + PD13766a COSM5786889 c.1125C>G p.F375L Substitution - Missense 17:74305356-74305356 + TCGA-AX-A05Z-01 COSM983999 c.1134G>T p.K378N Substitution - Missense 17:74305365-74305365 + C086 COSM1710730 c.788G>A p.R263Q Substitution - Missense 17:74299781-74299781 + TCGA-BR-8487-01 COSM4069311 c.1714C>T p.P572S Substitution - Missense 17:74312222-74312222 + TCGA-70-6722-01 COSM707362 c.610+2T>A p.? Unknown 17:74289738-74289738 + 19685 COSM4678628 c.1166G>A p.R389H Substitution - Missense 17:74305397-74305397 + 381 COSM1563662 c.822G>A p.S274S Substitution - coding silent 17:74299815-74299815 + TCGA-BR-4361-01 COSM4069293 c.63G>A p.S21S Substitution - coding silent 17:74281880-74281880 + TCGA-BG-A0MU-01 COSM983978 c.66C>A p.D22E Substitution - Missense 17:74281883-74281883 + OSCC-GB_00070111 COSM3712435 c.1153G>A p.D385N Substitution - Missense 17:74305384-74305384 + T3724 COSM4678629 c.1716A>G p.P572P Substitution - coding silent 17:74312224-74312224 + TCGA-CH-5739-01 COSM3672558 c.515C>A p.P172H Substitution - Missense 17:74289641-74289641 + BCB157T COSM4793529 c.131G>A p.R44Q Substitution - Missense 17:74281948-74281948 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.147449;Hs.147470;Hs.147471;Hs.147472 17q25 605483

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D30G c.89A>G 17 72278045 CM A G Missense p.K311R c.932A>G 17 72297252 BLCA A G Synonymous p.P218P c.654A>G 17 72287202 PAAD A T Missense p.E503V c.1508A>T 17 72308155 LUSC A T Missense p.E586V c.1757A>T 17 72310294 ESCA A T Missense p.Q92L c.275A>T 17 72281270 LUAD C A Missense p.R11S c.31C>A 17 72277987 LUAD C A Missense p.S183Y c.548C>A 17 72285813 BRCA C A Synonymous p.A38A c.114C>A 17 72278070 HNSC C A Synonymous p.S183S c.549C>A 17 72285814 LUAD C G IntronicSNV . c.610+18C>G 17 72285893 NSCLC C G Synonymous p.T504T c.1512C>G 17 72308159 ESCA C G Synonymous p.V8V c.24C>G 17 72277980 UCEC C T Missense p.A165V c.494C>T 17 72285759 UCEC C T Missense p.A190V c.569C>T 17 72285834 HNSC C T Missense p.H363Y c.1087C>T 17 72301457 OV C T Missense p.H364Y c.1090C>T 17 72301460 SCLC C T Missense p.R459W c.1375C>T 17 72306183 CM C T Missense p.S398L c.1193C>T 17 72301563 BLCA C T Missense p.T431I c.1292C>T 17 72305472 CM C T Missense p.T487I c.1460C>T 17 72306268 UCEC C T Nonsense p.Q52* c.154C>T 17 72278110 CM C T Synonymous p.D136D c.408C>T 17 72283178 GBM C T Synonymous p.D157D c.471C>T 17 72285736 HNSC C T Synonymous p.D429D c.1287C>T 17 72305467 LUSC C T Synonymous p.L203L c.607C>T 17 72285872 BLCA C T Synonymous p.T445T c.1335C>T 17 72305515 CM C T Synonymous p.Y199Y c.597C>T 17 72285862 OV G A Missense p.D443N c.1327G>A 17 72305507 CM G A Missense p.E2K c.4G>A 17 72277960 GBM G A Missense p.E549K c.1645G>A 17 72308292 CM G A Missense p.E594K c.1780G>A 17 72310317 LUSC G A Missense p.G336E c.1007G>A 17 72301377 LUAD G A Missense p.G365D c.1094G>A 17 72301464 CM G A Missense p.R505Q c.1514G>A 17 72308161 CM G A Nonsense p.W244* c.732G>A 17 72295864 CM G A Nonsense p.W81* c.242G>A 17 72281237 CM G A Synonymous p.A525A c.1575G>A 17 72308222 UCEC G A Synonymous p.A543A c.1629G>A 17 72308276 GBM G A Synonymous p.E587E c.1761G>A 17 72310298 BRCA G A Synonymous p.G593G c.1779G>A 17 72310316 CM G A Synonymous p.L323L c.969G>A 17 72297289 LUAD G A Synonymous p.R490R c.1470G>A 17 72306278 CM G A Synonymous p.R528R c.1584G>A 17 72308231 BRCA G C Missense p.D48H c.142G>C 17 72278098 OV G C Missense p.E78Q c.232G>C 17 72281227 BLCA G C Missense p.K508N c.1524G>C 17 72308171 BLCA G - Frameshift p.G80Afs*6 c.239delG 17 72281229 LUAD G T Missense p.C243F c.728G>T 17 72295860 STAD G T Missense p.D412Y c.1234G>T 17 72305414 NSCLC G T Missense p.E586D c.1758G>T 17 72310295 LUAD G T Missense p.G15V c.44G>T 17 72278000 HC G T Missense p.K404N c.1212G>T 17 72305392 HC G T Missense p.V231L c.691G>T 17 72287239 LUAD G T Nonsense p.E397* c.1189G>T 17 72301559 LUAD G T Nonsense p.G239* c.715G>T 17 72287263 BRCA T A Missense p.F437Y c.1310T>A 17 72305490 UCEC T A Missense p.I509N c.1526T>A 17 72308173 HNSC T A Missense p.I51N c.152T>A 17 72278108 THCA T A SpliceDonorSNV . c.610+2T>A 17 72285877 LUSC T G Missense p.Y267D c.799T>G 17 72295931 LUAD