Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 17 39998282 39998282 + Silent SNP A A T TCGA-OR-A5L2-01A-11D-A30A-10 TCGA-OR-A5L2-10A-01D-A30A-10 g.chr17:39998282A>T c.402A>T c.(400-402)tcA>tcT p.S134S ACC 17 40004254 40004254 + Missense_Mutation SNP C C T TCGA-PA-A5YG-01A-11D-A29I-10 TCGA-PA-A5YG-10A-01D-A29L-10 g.chr17:40004254C>T c.1522C>T c.(1522-1524)Cgc>Tgc p.R508C BLCA 17 39994310 39994310 + Silent SNP C C T TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr17:39994310C>T c.126C>T c.(124-126)gtC>gtT p.V42V BLCA 17 40001428 40001428 + Missense_Mutation SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:40001428G>A c.735G>A c.(733-735)atG>atA p.M245I BLCA 17 40003620 40003620 + Missense_Mutation SNP G G C TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr17:40003620G>C c.1410G>C c.(1408-1410)agG>agC p.R470S BLCA 17 40004197 40004197 + Missense_Mutation SNP G G C TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr17:40004197G>C c.1465G>C c.(1465-1467)Gat>Cat p.D489H BLCA 17 40004217 40004217 + Silent SNP G G A TCGA-5N-A9KI-01A-31D-A42E-08 TCGA-5N-A9KI-10A-01D-A42H-08 g.chr17:40004217G>A c.1485G>A c.(1483-1485)agG>agA p.R495R BRCA 17 40004264 40004264 + Missense_Mutation SNP C C G TCGA-E9-A1RF-01A-11D-A159-09 TCGA-E9-A1RF-10A-01D-A159-09 g.chr17:40004264C>G c.1532C>G c.(1531-1533)cCc>cGc p.P511R CESC 17 39994305 39994305 + Missense_Mutation SNP G G A TCGA-EK-A3GM-01A-11D-A20U-09 TCGA-EK-A3GM-10A-01D-A20U-09 g.chr17:39994305G>A c.121G>A c.(121-123)Gtg>Atg p.V41M COAD 17 39994205 39994205 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:39994205G>T c.21G>T c.(19-21)gcG>gcT p.A7A COAD 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr17:39994252C>T c.68C>T c.(67-69)gCg>gTg p.A23V COAD 17 39994380 39994380 + Splice_Site SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:39994380T>C c.e1+2 COAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COAD 17 39998266 39998266 + Missense_Mutation SNP G G T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr17:39998266G>T c.386G>T c.(385-387)tGc>tTc p.C129F COAD 17 39998468 39998468 + Silent SNP T T C TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr17:39998468T>C c.588T>C c.(586-588)aaT>aaC p.N196N COAD 17 40001448 40001448 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:40001448G>A c.755G>A c.(754-756)aGt>aAt p.S252N COAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COAD 17 40001495 40001496 + Missense_Mutation DNP GA GA AG TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:40001495_40001496GA>AG c.802_803GA>AG c.(802-804)GAc>AGc p.D268S COAD 17 40001496 40001496 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr17:40001496A>G c.803A>G c.(802-804)gAc>gGc p.D268G COAD 17 40001496 40001496 + Missense_Mutation SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:40001496A>G c.803A>G c.(802-804)gAc>gGc p.D268G COAD 17 40001602 40001602 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:40001602C>T c.909C>T c.(907-909)agC>agT p.S303S COAD 17 40001613 40001613 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:40001613C>A c.920C>A c.(919-921)gCc>gAc p.A307D COAD 17 40001806 40001806 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:40001806G>A c.1113G>A c.(1111-1113)ccG>ccA p.P371P COAD 17 40001824 40001824 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:40001824C>T c.1131C>T c.(1129-1131)tgC>tgT p.C377C COAD 17 40001858 40001858 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:40001858T>C c.1165T>C c.(1165-1167)Tat>Cat p.Y389H COAD 17 40001914 40001914 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:40001914G>A c.1221G>A c.(1219-1221)gaG>gaA p.E407E COAD 17 40003546 40003546 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr17:40003546T>C c.1336T>C c.(1336-1338)Tgc>Cgc p.C446R COAD 17 40003546 40003546 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:40003546T>C c.1336T>C c.(1336-1338)Tgc>Cgc p.C446R COAD 17 40004458 40004458 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:40004458G>A c.1726G>A c.(1726-1728)Gcc>Acc p.A576T COAD 17 40004470 40004470 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:40004470G>A c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K COAD 17 40004472 40004472 + Silent SNP A A G TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr17:40004472A>G c.1740A>G c.(1738-1740)gaA>gaG p.E580E COADREAD 17 39994205 39994205 + Silent SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr17:39994205G>T c.21G>T c.(19-21)gcG>gcT p.A7A COADREAD 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chr17:39994252C>T c.68C>T c.(67-69)gCg>gTg p.A23V COADREAD 17 39994380 39994380 + Splice_Site SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:39994380T>C c.e1+2 COADREAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COADREAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-CM-5868-01A-01D-1650-10 TCGA-CM-5868-10A-01D-1650-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COADREAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-DM-A1D4-01A-21D-A152-10 TCGA-DM-A1D4-10A-01D-A152-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COADREAD 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R COADREAD 17 39998266 39998266 + Missense_Mutation SNP G G T TCGA-AZ-6608-01A-11D-1835-10 TCGA-AZ-6608-11A-01D-1835-10 g.chr17:39998266G>T c.386G>T c.(385-387)tGc>tTc p.C129F COADREAD 17 39998267 39998267 + Silent SNP C C T TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr17:39998267C>T c.387C>T c.(385-387)tgC>tgT p.C129C COADREAD 17 39998468 39998468 + Silent SNP T T C TCGA-AY-4070-01A-01W-1073-09 TCGA-AY-4070-10A-01W-1073-09 g.chr17:39998468T>C c.588T>C c.(586-588)aaT>aaC p.N196N COADREAD 17 40001448 40001448 + Missense_Mutation SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr17:40001448G>A c.755G>A c.(754-756)aGt>aAt p.S252N COADREAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COADREAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COADREAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-D5-6533-01A-11D-1719-10 TCGA-D5-6533-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COADREAD 17 40001495 40001495 + Missense_Mutation SNP G G A TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr17:40001495G>A c.802G>A c.(802-804)Gac>Aac p.D268N COADREAD 17 40001495 40001496 + Missense_Mutation DNP GA GA AG TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr17:40001495_40001496GA>AG c.802_803GA>AG c.(802-804)GAc>AGc p.D268S COADREAD 17 40001496 40001496 + Missense_Mutation SNP A A G TCGA-AY-6196-01A-11D-1719-10 TCGA-AY-6196-10A-01D-1719-10 g.chr17:40001496A>G c.803A>G c.(802-804)gAc>gGc p.D268G COADREAD 17 40001496 40001496 + Missense_Mutation SNP A A G TCGA-G4-6626-01A-11D-1771-10 TCGA-G4-6626-10A-01D-1771-10 g.chr17:40001496A>G c.803A>G c.(802-804)gAc>gGc p.D268G COADREAD 17 40001553 40001553 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:40001553G>A c.860G>A c.(859-861)cGc>cAc p.R287H COADREAD 17 40001602 40001602 + Silent SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:40001602C>T c.909C>T c.(907-909)agC>agT p.S303S COADREAD 17 40001613 40001613 + Missense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr17:40001613C>A c.920C>A c.(919-921)gCc>gAc p.A307D COADREAD 17 40001806 40001806 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr17:40001806G>A c.1113G>A c.(1111-1113)ccG>ccA p.P371P COADREAD 17 40001824 40001824 + Silent SNP C C T TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr17:40001824C>T c.1131C>T c.(1129-1131)tgC>tgT p.C377C COADREAD 17 40001858 40001858 + Missense_Mutation SNP T T C TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr17:40001858T>C c.1165T>C c.(1165-1167)Tat>Cat p.Y389H COADREAD 17 40001914 40001914 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr17:40001914G>A c.1221G>A c.(1219-1221)gaG>gaA p.E407E COADREAD 17 40003546 40003546 + Missense_Mutation SNP T T C TCGA-A6-5660-01A-01D-1650-10 TCGA-A6-5660-10A-01D-1650-10 g.chr17:40003546T>C c.1336T>C c.(1336-1338)Tgc>Cgc p.C446R COADREAD 17 40003546 40003546 + Missense_Mutation SNP T T C TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr17:40003546T>C c.1336T>C c.(1336-1338)Tgc>Cgc p.C446R COADREAD 17 40004458 40004458 + Missense_Mutation SNP G G A TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr17:40004458G>A c.1726G>A c.(1726-1728)Gcc>Acc p.A576T COADREAD 17 40004470 40004470 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr17:40004470G>A c.1738G>A c.(1738-1740)Gaa>Aaa p.E580K COADREAD 17 40004472 40004472 + Silent SNP A A G TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr17:40004472A>G c.1740A>G c.(1738-1740)gaA>gaG p.E580E ESCA 17 39998420 39998420 + Missense_Mutation SNP G G T TCGA-R6-A8WC-01A-11D-A37C-09 TCGA-R6-A8WC-10A-01D-A37F-09 g.chr17:39998420G>T c.540G>T c.(538-540)gaG>gaT p.E180D ESCA 17 40001402 40001402 + Nonsense_Mutation SNP G G T TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr17:40001402G>T c.709G>T c.(709-711)Gag>Tag p.E237* ESCA 17 40004470 40004470 + Nonsense_Mutation SNP G G T TCGA-IG-A7DP-01A-31D-A33E-09 TCGA-IG-A7DP-10A-01D-A33H-09 g.chr17:40004470G>T c.1738G>T c.(1738-1740)Gaa>Taa p.E580* GBMLGG 17 40001799 40001799 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 g.chr17:40001799T>C c.1106T>C c.(1105-1107)gTg>gCg p.V369A GBMLGG 17 40001975 40001975 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40001975G>A c.1282G>A c.(1282-1284)Gcc>Acc p.A428T GBMLGG 17 40004288 40004288 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40004288A>T c.1556A>T c.(1555-1557)aAt>aTt p.N519I HNSC 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chr17:39994252C>T c.68C>T c.(67-69)gCg>gTg p.A23V HNSC 17 39994346 39994346 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:39994346G>A c.162G>A c.(160-162)aaG>aaA p.K54K KIPAN 17 40001990 40001990 + Missense_Mutation SNP G G T TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr17:40001990G>T c.1297G>T c.(1297-1299)Ggg>Tgg p.G433W KIPAN 17 40004451 40004451 + Silent SNP A A C TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr17:40004451A>C c.1719A>C c.(1717-1719)ccA>ccC p.P573P KIRC 17 40001990 40001990 + Missense_Mutation SNP G G T TCGA-B0-5402-01A-01D-1501-10 TCGA-B0-5402-11A-01D-1501-10 g.chr17:40001990G>T c.1297G>T c.(1297-1299)Ggg>Tgg p.G433W KIRC 17 40004451 40004451 + Silent SNP A A C TCGA-B0-5691-01A-11D-1534-10 TCGA-B0-5691-11A-01D-1534-10 g.chr17:40004451A>C c.1719A>C c.(1717-1719)ccA>ccC p.P573P LGG 17 40001799 40001799 + Missense_Mutation SNP T T C TCGA-RY-A83Y-01A-11D-A36O-08 TCGA-RY-A83Y-10A-01D-A367-08 g.chr17:40001799T>C c.1106T>C c.(1105-1107)gTg>gCg p.V369A LGG 17 40001975 40001975 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40001975G>A c.1282G>A c.(1282-1284)Gcc>Acc p.A428T LGG 17 40004288 40004288 + Missense_Mutation SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:40004288A>T c.1556A>T c.(1555-1557)aAt>aTt p.N519I LIHC 17 39998197 39998197 + Missense_Mutation SNP C C T TCGA-DD-AACE-01A-11D-A40R-10 TCGA-DD-AACE-10A-01D-A40U-10 g.chr17:39998197C>T c.317C>T c.(316-318)cCg>cTg p.P106L LIHC 17 39998458 39998458 + Missense_Mutation SNP A A G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr17:39998458A>G c.578A>G c.(577-579)gAt>gGt p.D193G LIHC 17 40004434 40004434 + Missense_Mutation SNP A A C TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr17:40004434A>C c.1702A>C c.(1702-1704)Agc>Cgc p.S568R LUAD 17 39998074 39998074 + Splice_Site SNP G G C TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr17:39998074G>C c.e2-1 LUAD 17 39998143 39998143 + Missense_Mutation SNP A A T TCGA-38-4630-01A-01D-1265-08 TCGA-38-4630-11A-01D-1265-08 g.chr17:39998143A>T c.263A>T c.(262-264)gAc>gTc p.D88V LUAD 17 39998215 39998215 + Missense_Mutation SNP T T A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr17:39998215T>A c.335T>A c.(334-336)cTg>cAg p.L112Q LUAD 17 40001820 40001820 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr17:40001820G>A c.1127G>A c.(1126-1128)cGt>cAt p.R376H LUAD 17 40001920 40001920 + Silent SNP G G A TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr17:40001920G>A c.1227G>A c.(1225-1227)gaG>gaA p.E409E LUAD 17 40003661 40003661 + Splice_Site SNP C C A TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr17:40003661C>A c.1451C>A c.(1450-1452)gCg>gAg p.A484E LUAD 17 40004200 40004200 + Missense_Mutation SNP G G A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr17:40004200G>A c.1468G>A c.(1468-1470)Gga>Aga p.G490R LUAD 17 40004382 40004382 + Silent SNP G G A TCGA-67-3772-01A-01W-0928-08 TCGA-67-3772-10A-01W-0928-08 g.chr17:40004382G>A c.1650G>A c.(1648-1650)aaG>aaA p.K550K LUSC 17 39998268 39998268 + Missense_Mutation SNP G G A TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr17:39998268G>A c.388G>A c.(388-390)Gag>Aag p.E130K LUSC 17 39998457 39998457 + Missense_Mutation SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr17:39998457G>C c.577G>C c.(577-579)Gat>Cat p.D193H LUSC 17 40004407 40004407 + Missense_Mutation SNP G G C TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr17:40004407G>C c.1675G>C c.(1675-1677)Gac>Cac p.D559H OV 17 40001495 40001495 + Missense_Mutation SNP G G C TCGA-13-0795-01A-01W-0372-09 TCGA-13-0795-10A-01W-0372-09 g.chr17:40001495G>C c.802G>C c.(802-804)Gac>Cac p.D268H PAAD 17 39994291 39994291 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:39994291G>A c.107G>A c.(106-108)gGc>gAc p.G36D PAAD 17 39998189 39998189 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:39998189T>C c.309T>C c.(307-309)ccT>ccC p.P103P PAAD 17 39998252 39998252 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:39998252C>T c.372C>T c.(370-372)atC>atT p.I124I PAAD 17 40001975 40001975 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:40001975G>A c.1282G>A c.(1282-1284)Gcc>Acc p.A428T PRAD 17 39994252 39994252 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:39994252C>T c.68C>T c.(67-69)gCg>gTg p.A23V PRAD 17 39998228 39998228 + Silent SNP A A G TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:39998228A>G c.348A>G c.(346-348)gcA>gcG p.A116A PRAD 17 40001400 40001400 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:40001400C>T c.707C>T c.(706-708)gCt>gTt p.A236V PRAD 17 40001505 40001505 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:40001505T>C c.812T>C c.(811-813)aTg>aCg p.M271T PRAD 17 40001966 40001966 + Missense_Mutation SNP G G A TCGA-VN-A88Q-01A-11D-A34U-08 TCGA-VN-A88Q-10A-01D-A34X-08 g.chr17:40001966G>A c.1273G>A c.(1273-1275)Gat>Aat p.D425N PRAD 17 40004485 40004485 + Missense_Mutation SNP C C T TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chr17:40004485C>T c.1753C>T c.(1753-1755)Cgg>Tgg p.R585W READ 17 39998265 39998265 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr17:39998265T>C c.385T>C c.(385-387)Tgc>Cgc p.C129R READ 17 39998267 39998267 + Silent SNP C C T TCGA-AF-4110-01A-02D-1733-10 TCGA-AF-4110-10A-01D-1733-10 g.chr17:39998267C>T c.387C>T c.(385-387)tgC>tgT p.C129C READ 17 40001553 40001553 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:40001553G>A c.860G>A c.(859-861)cGc>cAc p.R287H SKCM 17 40004299 40004299 + Missense_Mutation SNP G G C TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr17:40004299G>C c.1567G>C c.(1567-1569)Gag>Cag p.E523Q SKCM 17 40004308 40004308 + Missense_Mutation SNP G G A TCGA-FW-A3TU-06A-11D-A23B-08 TCGA-FW-A3TU-10A-01D-A23B-08 g.chr17:40004308G>A c.1576G>A c.(1576-1578)Gat>Aat p.D526N SKCM 17 40004384 40004384 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chr17:40004384C>T c.1652C>T c.(1651-1653)aCc>aTc p.T551I

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 39988709 39988709 single base substitution G C upstream_gene_variant BLCA-US 17 39991455 39991455 single base substitution T A upstream_gene_variant BLCA-US 17 40001428 40001428 single base substitution G A downstream_gene_variant BLCA-US 17 40001428 40001428 single base substitution G A missense_variant M245I 735G>A BLCA-US 17 40004197 40004197 single base substitution G C missense_variant D489H 1465G>C BRCA-EU 17 39989923 39989923 single base substitution G A upstream_gene_variant BRCA-EU 17 39989937 39989937 single base substitution G A upstream_gene_variant BRCA-EU 17 39989945 39989945 single base substitution G A upstream_gene_variant BRCA-EU 17 39990014 39990014 single base substitution C T upstream_gene_variant BRCA-EU 17 39990033 39990033 single base substitution C T upstream_gene_variant BRCA-EU 17 39990038 39990038 single base substitution G C upstream_gene_variant BRCA-EU 17 39992159 39992159 single base substitution C T intron_variant BRCA-EU 17 39992159 39992159 single base substitution C T upstream_gene_variant BRCA-EU 17 39992969 39992969 single base substitution T A intron_variant BRCA-EU 17 39992969 39992969 single base substitution T A upstream_gene_variant BRCA-EU 17 39994355 39994355 single base substitution C G intron_variant BRCA-EU 17 39994355 39994355 single base substitution C G synonymous_variant L57L 171C>G BRCA-EU 17 39995312 39995312 single base substitution C T intron_variant BRCA-EU 17 39995360 39995360 single base substitution C T intron_variant BRCA-EU 17 39996057 39996057 single base substitution C G intron_variant BRCA-EU 17 39996262 39996262 single base substitution G T intron_variant BRCA-EU 17 39998001 39998001 single base substitution C G intron_variant BRCA-EU 17 39998065 39998065 insertion of <=200bp - T frameshift_variant L56L? BRCA-EU 17 39998065 39998065 insertion of <=200bp - T intron_variant BRCA-EU 17 39998252 39998252 single base substitution C T downstream_gene_variant BRCA-EU 17 39998252 39998252 single base substitution C T exon_variant BRCA-EU 17 39998252 39998252 single base substitution C T synonymous_variant I118I 354C>T BRCA-EU 17 39998252 39998252 single base substitution C T synonymous_variant I124I 372C>T BRCA-EU 17 39999121 39999121 single base substitution G A downstream_gene_variant BRCA-EU 17 39999121 39999121 single base substitution G A intron_variant BRCA-EU 17 39999337 39999337 single base substitution C T downstream_gene_variant BRCA-EU 17 39999337 39999337 single base substitution C T intron_variant BRCA-EU 17 40000116 40000116 deletion of <=200bp C - downstream_gene_variant BRCA-EU 17 40000116 40000116 deletion of <=200bp C - intron_variant BRCA-EU 17 40001330 40001330 single base substitution C T downstream_gene_variant BRCA-EU 17 40001330 40001330 single base substitution C T intron_variant BRCA-EU 17 40006263 40006263 single base substitution T A downstream_gene_variant BRCA-EU 17 40006534 40006534 single base substitution G C downstream_gene_variant BRCA-EU 17 40007111 40007111 single base substitution G C downstream_gene_variant BRCA-EU 17 40007803 40007803 single base substitution G A downstream_gene_variant BRCA-EU 17 40008234 40008234 single base substitution G A downstream_gene_variant BRCA-EU 17 40008815 40008815 single base substitution G A downstream_gene_variant BRCA-EU 17 40009388 40009388 single base substitution G C downstream_gene_variant BRCA-UK 17 39989923 39989923 single base substitution G A upstream_gene_variant BRCA-UK 17 39989937 39989937 single base substitution G A upstream_gene_variant BRCA-UK 17 39989945 39989945 single base substitution G A upstream_gene_variant BRCA-UK 17 39990038 39990038 single base substitution G C upstream_gene_variant BRCA-UK 17 39994627 39994627 single base substitution C T intron_variant BRCA-US 17 39988648 39988648 single base substitution C G upstream_gene_variant BRCA-US 17 39988648 39988648 single base substitution C T upstream_gene_variant BRCA-US 17 40004264 40004264 single base substitution C G missense_variant P511R 1532C>G BTCA-JP 17 39992056 39992056 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BTCA-JP 17 39992056 39992056 single base substitution G T upstream_gene_variant BTCA-JP 17 39994198 39994198 single base substitution G T exon_variant BTCA-JP 17 39994198 39994198 single base substitution G T missense_variant S5I 14G>T BTCA-JP 17 39994403 39994403 single base substitution C T intron_variant BTCA-JP 17 40001975 40001975 single base substitution G A downstream_gene_variant BTCA-JP 17 40001975 40001975 single base substitution G A missense_variant A428T 1282G>A BTCA-JP 17 40003691 40003691 deletion of <=200bp A - intron_variant BTCA-JP 17 40004358 40004358 single base substitution T C synonymous_variant F542F 1626T>C CESC-US 17 39988679 39988679 single base substitution C T upstream_gene_variant CESC-US 17 39991472 39991472 single base substitution C T upstream_gene_variant CESC-US 17 39994305 39994305 single base substitution G A exon_variant CESC-US 17 39994305 39994305 single base substitution G A missense_variant V41M 121G>A CLLE-ES 17 39986985 39986985 single base substitution G A upstream_gene_variant COAD-US 17 39991473 39991473 single base substitution G A upstream_gene_variant COAD-US 17 39994380 39994380 single base substitution T C intron_variant COAD-US 17 39994380 39994380 single base substitution T C splice_donor_variant COAD-US 17 40001448 40001448 single base substitution G A downstream_gene_variant COAD-US 17 40001448 40001448 single base substitution G A missense_variant S252N 755G>A COAD-US 17 40001602 40001602 single base substitution C T downstream_gene_variant COAD-US 17 40001602 40001602 single base substitution C T synonymous_variant S303S 909C>T COAD-US 17 40001613 40001613 single base substitution C A downstream_gene_variant COAD-US 17 40001613 40001613 single base substitution C A missense_variant A307D 920C>A COAD-US 17 40001824 40001824 single base substitution C T downstream_gene_variant COAD-US 17 40001824 40001824 single base substitution C T synonymous_variant C377C 1131C>T COAD-US 17 40001858 40001858 single base substitution T C downstream_gene_variant COAD-US 17 40001858 40001858 single base substitution T C missense_variant Y389H 1165T>C COAD-US 17 40001914 40001914 single base substitution G A downstream_gene_variant COAD-US 17 40001914 40001914 single base substitution G A synonymous_variant E407E 1221G>A COAD-US 17 40004458 40004458 single base substitution G A missense_variant A576T 1726G>A COCA-CN 17 39987208 39987208 single base substitution T C upstream_gene_variant COCA-CN 17 39988691 39988691 single base substitution G A upstream_gene_variant COCA-CN 17 39994205 39994205 single base substitution G A exon_variant COCA-CN 17 39994205 39994205 single base substitution G A synonymous_variant A7A 21G>A COCA-CN 17 39994521 39994521 single base substitution T A intron_variant COCA-CN 17 39998035 39998035 single base substitution G T intron_variant COCA-CN 17 39998035 39998035 single base substitution G T missense_variant R46I 137G>T COCA-CN 17 39998150 39998150 single base substitution G T exon_variant COCA-CN 17 39998150 39998150 single base substitution G T missense_variant M84I 252G>T COCA-CN 17 39998150 39998150 single base substitution G T missense_variant M90I 270G>T COCA-CN 17 40001514 40001514 single base substitution C T downstream_gene_variant COCA-CN 17 40001514 40001514 single base substitution C T missense_variant P274L 821C>T COCA-CN 17 40003421 40003421 single base substitution C T intron_variant COCA-CN 17 40003692 40003692 single base substitution A C intron_variant COCA-CN 17 40004297 40004297 single base substitution T C missense_variant I522T 1565T>C ESAD-UK 17 39991207 39991207 single base substitution A C upstream_gene_variant ESAD-UK 17 39992477 39992479 deletion of <=200bp ACA - intron_variant ESAD-UK 17 39992477 39992479 deletion of <=200bp ACA - upstream_gene_variant ESAD-UK 17 39993125 39993125 single base substitution G T intron_variant ESAD-UK 17 39993125 39993125 single base substitution G T upstream_gene_variant ESAD-UK 17 39993628 39993628 single base substitution G A intron_variant ESAD-UK 17 39993628 39993628 single base substitution G A upstream_gene_variant ESAD-UK 17 39994384 39994384 single base substitution A C intron_variant ESAD-UK 17 39994384 39994384 single base substitution A C splice_region_variant ESAD-UK 17 39995233 39995233 single base substitution G A intron_variant ESAD-UK 17 39995587 39995587 single base substitution G C intron_variant ESAD-UK 17 39997224 39997224 single base substitution C G intron_variant ESAD-UK 17 39997845 39997845 single base substitution G A intron_variant ESAD-UK 17 39998267 39998267 single base substitution C T downstream_gene_variant ESAD-UK 17 39998267 39998267 single base substitution C T exon_variant ESAD-UK 17 39998267 39998267 single base substitution C T synonymous_variant C123C 369C>T ESAD-UK 17 39998267 39998267 single base substitution C T synonymous_variant C129C 387C>T ESAD-UK 17 39998813 39998813 single base substitution T C downstream_gene_variant ESAD-UK 17 39998813 39998813 single base substitution T C intron_variant ESAD-UK 17 40003690 40003690 single base substitution C A intron_variant ESAD-UK 17 40007088 40007088 single base substitution C G downstream_gene_variant ESAD-UK 17 40007493 40007495 deletion of <=200bp AAC - downstream_gene_variant KIRC-US 17 40001990 40001990 single base substitution G T downstream_gene_variant KIRC-US 17 40001990 40001990 single base substitution G T missense_variant G433W 1297G>T KIRC-US 17 40004451 40004451 single base substitution A C synonymous_variant P573P 1719A>C LAML-KR 17 39991153 39991153 single base substitution T G upstream_gene_variant LAML-KR 17 40003690 40003690 single base substitution C A intron_variant LAML-KR 17 40003756 40003756 single base substitution G T intron_variant LICA-CN 17 40001866 40001866 single base substitution G A downstream_gene_variant LICA-CN 17 40001866 40001866 single base substitution G A missense_variant M391I 1173G>A LIHC-US 17 40004434 40004434 single base substitution A C missense_variant S568R 1702A>C LINC-JP 17 39988505 39988535 deletion of <=200bp AGCTGGACTAATAGTATTAAATTAAGCCCTC - upstream_gene_variant LINC-JP 17 39996149 39996149 single base substitution G T intron_variant LINC-JP 17 40002072 40002072 single base substitution G A downstream_gene_variant LINC-JP 17 40002072 40002072 single base substitution G A intron_variant LIRI-JP 17 39989865 39989865 single base substitution C A upstream_gene_variant LIRI-JP 17 39991917 39991924 deletion of <=200bp ATGACCAT - upstream_gene_variant LIRI-JP 17 39992773 39992773 single base substitution T A intron_variant LIRI-JP 17 39992773 39992773 single base substitution T A upstream_gene_variant LIRI-JP 17 39993472 39993472 single base substitution A C intron_variant LIRI-JP 17 39993472 39993472 single base substitution A C upstream_gene_variant LIRI-JP 17 39998530 39998530 single base substitution A G downstream_gene_variant LIRI-JP 17 39998530 39998530 single base substitution A G missense_variant N217S 650A>G LIRI-JP 17 40004982 40004982 single base substitution C G downstream_gene_variant LIRI-JP 17 40007318 40007318 single base substitution T C downstream_gene_variant LIRI-JP 17 40008496 40008496 single base substitution T G downstream_gene_variant LUSC-KR 17 39988601 39988601 single base substitution C T upstream_gene_variant LUSC-KR 17 39988896 39988896 single base substitution G T upstream_gene_variant LUSC-KR 17 39992489 39992489 single base substitution C A intron_variant LUSC-KR 17 39992489 39992489 single base substitution C A upstream_gene_variant LUSC-KR 17 39997384 39997384 single base substitution C A intron_variant LUSC-KR 17 39998141 39998141 single base substitution C T exon_variant LUSC-KR 17 39998141 39998141 single base substitution C T synonymous_variant P81P 243C>T LUSC-KR 17 39998141 39998141 single base substitution C T synonymous_variant P87P 261C>T LUSC-KR 17 39998621 39998621 single base substitution C A downstream_gene_variant LUSC-KR 17 39998621 39998621 single base substitution C A intron_variant LUSC-KR 17 40003347 40003347 single base substitution G A downstream_gene_variant LUSC-KR 17 40003347 40003347 single base substitution G A intron_variant LUSC-KR 17 40003421 40003421 single base substitution C T intron_variant LUSC-US 17 39998268 39998268 single base substitution G A downstream_gene_variant LUSC-US 17 39998268 39998268 single base substitution G A exon_variant LUSC-US 17 39998268 39998268 single base substitution G A missense_variant E124K 370G>A LUSC-US 17 39998268 39998268 single base substitution G A missense_variant E130K 388G>A LUSC-US 17 39998457 39998457 single base substitution G C downstream_gene_variant LUSC-US 17 39998457 39998457 single base substitution G C missense_variant D193H 577G>C LUSC-US 17 40004407 40004407 single base substitution G C missense_variant D559H 1675G>C MALY-DE 17 39992681 39992681 single base substitution C G intron_variant MALY-DE 17 39992681 39992681 single base substitution C G upstream_gene_variant MALY-DE 17 40000479 40000479 deletion of <=200bp T - downstream_gene_variant MALY-DE 17 40000479 40000479 deletion of <=200bp T - intron_variant MALY-DE 17 40005551 40005551 single base substitution A G downstream_gene_variant MALY-DE 17 40006174 40006177 deletion of <=200bp TCTT - downstream_gene_variant MELA-AU 17 39987146 39987146 single base substitution G A upstream_gene_variant MELA-AU 17 39987963 39987963 single base substitution G A upstream_gene_variant MELA-AU 17 39989137 39989137 single base substitution G A upstream_gene_variant MELA-AU 17 39989242 39989242 single base substitution A G upstream_gene_variant MELA-AU 17 39989280 39989280 single base substitution G A upstream_gene_variant MELA-AU 17 39989617 39989617 single base substitution G T upstream_gene_variant MELA-AU 17 39990107 39990108 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 39990440 39990440 single base substitution G A upstream_gene_variant MELA-AU 17 39990512 39990512 single base substitution G A upstream_gene_variant MELA-AU 17 39990936 39990937 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 17 39990969 39990970 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 17 39991147 39991147 single base substitution G A upstream_gene_variant MELA-AU 17 39992564 39992564 single base substitution G A intron_variant MELA-AU 17 39992564 39992564 single base substitution G A upstream_gene_variant MELA-AU 17 39993297 39993297 single base substitution C T intron_variant MELA-AU 17 39993297 39993297 single base substitution C T upstream_gene_variant MELA-AU 17 39993653 39993653 single base substitution G A intron_variant MELA-AU 17 39993653 39993653 single base substitution G A upstream_gene_variant MELA-AU 17 39993666 39993666 single base substitution C T intron_variant MELA-AU 17 39993666 39993666 single base substitution C T upstream_gene_variant MELA-AU 17 39993967 39993967 single base substitution G A intron_variant MELA-AU 17 39993967 39993967 single base substitution G A upstream_gene_variant MELA-AU 17 39993972 39993972 single base substitution G A intron_variant MELA-AU 17 39993972 39993972 single base substitution G A upstream_gene_variant MELA-AU 17 39994188 39994188 single base substitution G A exon_variant MELA-AU 17 39994188 39994188 single base substitution G A missense_variant E2K 4G>A MELA-AU 17 39994752 39994752 single base substitution G A intron_variant MELA-AU 17 39994919 39994919 single base substitution C T intron_variant MELA-AU 17 39995187 39995187 single base substitution C T intron_variant MELA-AU 17 39995458 39995458 single base substitution G A intron_variant MELA-AU 17 39995477 39995477 single base substitution C T intron_variant MELA-AU 17 39995480 39995480 single base substitution G A intron_variant MELA-AU 17 39995684 39995684 single base substitution C T intron_variant MELA-AU 17 39995693 39995693 single base substitution C T intron_variant MELA-AU 17 39995715 39995715 single base substitution C T intron_variant MELA-AU 17 39995748 39995748 single base substitution G A intron_variant MELA-AU 17 39995769 39995769 single base substitution G A intron_variant MELA-AU 17 39996792 39996792 single base substitution G A intron_variant MELA-AU 17 39997006 39997006 single base substitution G A intron_variant MELA-AU 17 39997186 39997186 single base substitution G A intron_variant MELA-AU 17 39997466 39997466 single base substitution C T intron_variant MELA-AU 17 39997966 39997966 single base substitution C T intron_variant MELA-AU 17 39998074 39998074 single base substitution G A missense_variant R59K 176G>A MELA-AU 17 39998074 39998074 single base substitution G A splice_acceptor_variant MELA-AU 17 39998115 39998115 single base substitution G A exon_variant MELA-AU 17 39998115 39998115 single base substitution G A missense_variant V73I 217G>A MELA-AU 17 39998115 39998115 single base substitution G A missense_variant V79I 235G>A MELA-AU 17 39998449 39998449 single base substitution T G downstream_gene_variant MELA-AU 17 39998449 39998449 single base substitution T G missense_variant I190S 569T>G MELA-AU 17 39998600 39998600 single base substitution G A downstream_gene_variant MELA-AU 17 39998600 39998600 single base substitution G A intron_variant MELA-AU 17 40000098 40000098 single base substitution C T downstream_gene_variant MELA-AU 17 40000098 40000098 single base substitution C T intron_variant MELA-AU 17 40000266 40000266 single base substitution G A downstream_gene_variant MELA-AU 17 40000266 40000266 single base substitution G A intron_variant MELA-AU 17 40000490 40000491 multiple base substitution (>=2bp and <=200bp) TC CT downstream_gene_variant MELA-AU 17 40000490 40000491 multiple base substitution (>=2bp and <=200bp) TC CT intron_variant MELA-AU 17 40000889 40000889 single base substitution C T downstream_gene_variant MELA-AU 17 40000889 40000889 single base substitution C T intron_variant MELA-AU 17 40000904 40000904 single base substitution G A downstream_gene_variant MELA-AU 17 40000904 40000904 single base substitution G A intron_variant MELA-AU 17 40000990 40000990 single base substitution G A downstream_gene_variant MELA-AU 17 40000990 40000990 single base substitution G A intron_variant MELA-AU 17 40001031 40001031 single base substitution C A downstream_gene_variant MELA-AU 17 40001031 40001031 single base substitution C A intron_variant MELA-AU 17 40001036 40001036 single base substitution G A downstream_gene_variant MELA-AU 17 40001036 40001036 single base substitution G A intron_variant MELA-AU 17 40001453 40001453 single base substitution G A downstream_gene_variant MELA-AU 17 40001453 40001453 single base substitution G A missense_variant E254K 760G>A MELA-AU 17 40001511 40001511 single base substitution G A downstream_gene_variant MELA-AU 17 40001511 40001511 single base substitution G A missense_variant G273E 818G>A MELA-AU 17 40002168 40002168 single base substitution G A downstream_gene_variant MELA-AU 17 40002168 40002168 single base substitution G A intron_variant MELA-AU 17 40003452 40003452 single base substitution A T intron_variant MELA-AU 17 40005521 40005521 single base substitution A C downstream_gene_variant MELA-AU 17 40005560 40005560 single base substitution C T downstream_gene_variant MELA-AU 17 40005877 40005877 single base substitution G A downstream_gene_variant MELA-AU 17 40007230 40007230 single base substitution T G downstream_gene_variant MELA-AU 17 40007501 40007501 single base substitution C T downstream_gene_variant MELA-AU 17 40007539 40007539 single base substitution C T downstream_gene_variant MELA-AU 17 40009103 40009103 single base substitution G A downstream_gene_variant MELA-AU 17 40009440 40009440 single base substitution T A downstream_gene_variant ORCA-IN 17 39994261 39994261 single base substitution G T exon_variant ORCA-IN 17 39994261 39994261 single base substitution G T missense_variant C26F 77G>T OV-AU 17 39992567 39992567 single base substitution T G intron_variant OV-AU 17 39992567 39992567 single base substitution T G upstream_gene_variant OV-AU 17 40002698 40002698 single base substitution A G downstream_gene_variant OV-AU 17 40002698 40002698 single base substitution A G intron_variant OV-US 17 40001495 40001495 single base substitution G C downstream_gene_variant OV-US 17 40001495 40001495 single base substitution G C missense_variant D268H 802G>C PACA-AU 17 39989744 39989744 single base substitution A T upstream_gene_variant PACA-AU 17 39994441 39994441 single base substitution C T intron_variant PACA-AU 17 39995710 39995710 single base substitution C G intron_variant PACA-AU 17 39996959 39996959 single base substitution G A intron_variant PACA-AU 17 39998179 39998179 single base substitution G A exon_variant PACA-AU 17 39998179 39998179 single base substitution G A missense_variant R100Q 299G>A PACA-AU 17 39998179 39998179 single base substitution G A missense_variant R94Q 281G>A PACA-AU 17 39999200 39999200 single base substitution G A downstream_gene_variant PACA-AU 17 39999200 39999200 single base substitution G A intron_variant PACA-AU 17 40001679 40001679 single base substitution G A downstream_gene_variant PACA-AU 17 40001679 40001679 single base substitution G A missense_variant R329H 986G>A PACA-AU 17 40007550 40007550 single base substitution C G downstream_gene_variant PACA-AU 17 40009046 40009046 single base substitution A G downstream_gene_variant PACA-CA 17 39987345 39987345 single base substitution T G upstream_gene_variant PACA-CA 17 39988729 39988729 single base substitution G T upstream_gene_variant PACA-CA 17 39994520 39994520 single base substitution A T intron_variant PACA-CA 17 39995657 39995657 single base substitution C T intron_variant PACA-CA 17 39996373 39996373 single base substitution G A intron_variant PACA-CA 17 39996819 39996819 single base substitution C A intron_variant PACA-CA 17 39998085 39998085 single base substitution A G exon_variant PACA-CA 17 39998085 39998085 single base substitution A G missense_variant T63A 187A>G PACA-CA 17 39998085 39998085 single base substitution A G missense_variant T69A 205A>G PACA-CA 17 39999337 39999337 single base substitution C G downstream_gene_variant PACA-CA 17 39999337 39999337 single base substitution C G intron_variant PACA-CA 17 40003472 40003472 single base substitution C A intron_variant PACA-CA 17 40005465 40005465 single base substitution T C downstream_gene_variant PACA-CA 17 40006173 40006173 single base substitution C T downstream_gene_variant PACA-CA 17 40007226 40007226 single base substitution C G downstream_gene_variant PACA-CA 17 40008992 40008992 single base substitution G A downstream_gene_variant PAEN-IT 17 39988847 39988847 single base substitution C T upstream_gene_variant PBCA-DE 17 39993501 39993501 single base substitution C A intron_variant PBCA-DE 17 39993501 39993501 single base substitution C A upstream_gene_variant PBCA-DE 17 39993711 39993711 single base substitution G T intron_variant PBCA-DE 17 39993711 39993711 single base substitution G T upstream_gene_variant PBCA-DE 17 39994376 39994376 single base substitution T C intron_variant PBCA-DE 17 39994376 39994376 single base substitution T C splice_region_variant PBCA-DE 17 39999734 39999734 single base substitution C T downstream_gene_variant PBCA-DE 17 39999734 39999734 single base substitution C T intron_variant PRAD-CA 17 39995859 39995859 single base substitution G A intron_variant PRAD-CA 17 40004614 40004614 single base substitution A T 3_prime_UTR_variant PRAD-US 17 40004485 40004485 single base substitution C T missense_variant R585W 1753C>T RECA-EU 17 39987175 39987175 single base substitution C A upstream_gene_variant RECA-EU 17 39991906 39991906 single base substitution G T upstream_gene_variant SKCA-BR 17 39987102 39987102 single base substitution G A upstream_gene_variant SKCA-BR 17 39988203 39988203 single base substitution G A upstream_gene_variant SKCA-BR 17 39991848 39991852 deletion of <=200bp CGCTG - upstream_gene_variant SKCA-BR 17 39992258 39992258 single base substitution C T intron_variant SKCA-BR 17 39992258 39992258 single base substitution C T upstream_gene_variant SKCA-BR 17 39992550 39992550 single base substitution C G intron_variant SKCA-BR 17 39992550 39992550 single base substitution C G upstream_gene_variant SKCA-BR 17 39993674 39993674 single base substitution G A intron_variant SKCA-BR 17 39993674 39993674 single base substitution G A upstream_gene_variant SKCA-BR 17 39994816 39994816 single base substitution G A intron_variant SKCA-BR 17 39995631 39995631 single base substitution G A intron_variant SKCA-BR 17 40000482 40000482 single base substitution T A downstream_gene_variant SKCA-BR 17 40000482 40000482 single base substitution T A intron_variant SKCA-BR 17 40000794 40000802 deletion of <=200bp ATTTTTTTT - downstream_gene_variant SKCA-BR 17 40000794 40000802 deletion of <=200bp ATTTTTTTT - intron_variant SKCA-BR 17 40003402 40003402 single base substitution G A downstream_gene_variant SKCA-BR 17 40003402 40003402 single base substitution G A intron_variant SKCA-BR 17 40003522 40003522 single base substitution T C missense_variant C438R 1312T>C SKCA-BR 17 40004010 40004010 single base substitution G A intron_variant SKCA-BR 17 40004475 40004475 single base substitution T G stop_gained Y581* 1743T>G SKCA-BR 17 40008818 40008818 single base substitution G A downstream_gene_variant SKCM-US 17 39987068 39987068 single base substitution G A upstream_gene_variant SKCM-US 17 39992141 39992141 single base substitution G A intron_variant SKCM-US 17 39992141 39992141 single base substitution G A upstream_gene_variant SKCM-US 17 40001727 40001727 single base substitution G A downstream_gene_variant SKCM-US 17 40001727 40001727 single base substitution G A missense_variant G345E 1034G>A SKCM-US 17 40004299 40004299 single base substitution G C missense_variant E523Q 1567G>C SKCM-US 17 40004308 40004308 single base substitution G A missense_variant D526N 1576G>A SKCM-US 17 40004384 40004384 single base substitution C T missense_variant T551I 1652C>T STAD-US 17 39987098 39987098 single base substitution T C upstream_gene_variant STAD-US 17 39994259 39994259 single base substitution C A exon_variant STAD-US 17 39994259 39994259 single base substitution C A synonymous_variant A25A 75C>A STAD-US 17 39998198 39998198 single base substitution G A exon_variant STAD-US 17 39998198 39998198 single base substitution G A synonymous_variant P100P 300G>A STAD-US 17 39998198 39998198 single base substitution G A synonymous_variant P106P 318G>A STAD-US 17 39998199 39998199 single base substitution G A exon_variant STAD-US 17 39998199 39998199 single base substitution G A missense_variant D101N 301G>A STAD-US 17 39998199 39998199 single base substitution G A missense_variant D107N 319G>A STAD-US 17 40001522 40001522 single base substitution T C downstream_gene_variant STAD-US 17 40001522 40001522 single base substitution T C missense_variant S277P 829T>C STAD-US 17 40001552 40001552 single base substitution C T downstream_gene_variant STAD-US 17 40001552 40001552 single base substitution C T missense_variant R287C 859C>T STAD-US 17 40001590 40001590 single base substitution G T downstream_gene_variant STAD-US 17 40001590 40001590 single base substitution G T missense_variant W299C 897G>T STAD-US 17 40001675 40001675 deletion of <=200bp C - downstream_gene_variant STAD-US 17 40001675 40001675 deletion of <=200bp C - frameshift_variant P328 STAD-US 17 40001736 40001736 single base substitution A G downstream_gene_variant STAD-US 17 40001736 40001736 single base substitution A G missense_variant D348G 1043A>G STAD-US 17 40001941 40001941 single base substitution C A downstream_gene_variant STAD-US 17 40001941 40001941 single base substitution C A synonymous_variant I416I 1248C>A STAD-US 17 40001942 40001942 single base substitution G A downstream_gene_variant STAD-US 17 40001942 40001942 single base substitution G A missense_variant A417T 1249G>A THCA-SA 17 40001671 40001671 single base substitution G T downstream_gene_variant THCA-SA 17 40001671 40001671 single base substitution G T missense_variant E326D 978G>T THCA-US 17 40001678 40001678 single base substitution C A downstream_gene_variant THCA-US 17 40001678 40001678 single base substitution C A missense_variant R329S 985C>A UCEC-US 17 39991330 39991330 single base substitution G A upstream_gene_variant UCEC-US 17 39991473 39991473 single base substitution G A upstream_gene_variant UCEC-US 17 39998481 39998481 single base substitution G T downstream_gene_variant UCEC-US 17 39998481 39998481 single base substitution G T missense_variant D201Y 601G>T UCEC-US 17 40001457 40001457 single base substitution G A downstream_gene_variant UCEC-US 17 40001457 40001457 single base substitution G A missense_variant C255Y 764G>A UCEC-US 17 40001482 40001482 single base substitution A C downstream_gene_variant UCEC-US 17 40001482 40001482 single base substitution A C synonymous_variant L263L 789A>C UCEC-US 17 40004192 40004192 single base substitution G A missense_variant G487D 1460G>A UCEC-US 17 40004210 40004210 single base substitution G A missense_variant R493Q 1478G>A UCEC-US 17 40004386 40004386 single base substitution G A missense_variant D552N 1654G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C086 COSM5533460 c.1037G>A p.G346E Substitution - Missense 17:41845478-41845478 + TCGA-D1-A174-01 COSM979341 c.755G>A p.S252N Substitution - Missense 17:41845196-41845196 + TCGA-GV-A3JZ-01 COSM1302824 c.1465G>C p.D489H Substitution - Missense 17:41847945-41847945 + TCGA-DJ-A1QD-01 COSM3370727 c.985C>A p.R329S Substitution - Missense 17:41845426-41845426 + ME002T COSM222342 c.866C>T p.P289L Substitution - Missense 17:41845307-41845307 + BD72T COSM1736526 c.1282G>A p.A428T Substitution - Missense 17:41845723-41845723 + NCI-H2126 COSM25204 c.1338C>T p.C446C Substitution - coding silent 17:41847296-41847296 + SMYM-PRGP COSM3727523 c.1132_1133delTA p.Y378fs*17 Deletion - Frameshift 17:41845573-41845574 + TCGA-EE-A2GO-06 COSM3517575 c.1652C>T p.T551I Substitution - Missense 17:41848132-41848132 + TCGA-B5-A0JY-01 COSM979349 c.1478G>A p.R493Q Substitution - Missense 17:41847958-41847958 + ME009T COSM223876 c.604G>A p.A202T Substitution - Missense 17:41842232-41842232 + P116 COSM1736526 c.1282G>A p.A428T Substitution - Missense 17:41845723-41845723 + PT24_1 COSM5904454 c.1026T>A p.Y342* Substitution - Nonsense 17:41845467-41845467 + TCGA-BG-A18B-01 COSM979351 c.1654G>A p.D552N Substitution - Missense 17:41848134-41848134 + TCGA-FW-A3R5-06 COSM3889688 c.1034G>A p.G345E Substitution - Missense 17:41845475-41845475 + 169 COSM3729688 c.615G>T p.E205D Substitution - Missense 17:41842243-41842243 + PTC-7C COSM4130071 c.1039T>A p.F347I Substitution - Missense 17:41845480-41845480 + TCGA-AP-A051-01 COSM979339 c.601G>T p.D201Y Substitution - Missense 17:41842229-41842229 + Pat_26_A COSM4066465 c.1249G>A p.A417T Substitution - Missense 17:41845690-41845690 + TCGA-66-2778-01 COSM706343 c.577G>C p.D193H Substitution - Missense 17:41842205-41842205 + NCI-H727 COSM3187918 c.185C>A p.S62Y Substitution - Missense 17:41838117-41838117 + Pat_40_A COSM5852522 c.355delT p.F119fs*38 Deletion - Frameshift 17:41841983-41841983 + TCGA-BR-4362-01 COSM4066464 c.1248C>A p.I416I Substitution - coding silent 17:41845689-41845689 + sysucc-880T COSM5462642 c.1565T>C p.I522T Substitution - Missense 17:41848045-41848045 + TCGA-B5-A0JY-01 COSM979345 c.789A>C p.L263L Substitution - coding silent 17:41845230-41845230 + TCGA-E9-A1RF-01 COSM1479570 c.1532C>G p.P511R Substitution - Missense 17:41848012-41848012 + TCGA-AD-6895-01 COSM1383253 c.909C>T p.S303S Substitution - coding silent 17:41845350-41845350 + PT37 COSM5921172 c.685-1G>A p.? Unknown 17:41845125-41845125 + 587316 COSM261695 c.860G>A p.R287H Substitution - Missense 17:41845301-41845301 + GC10_T COSM148273 c.571G>A p.E191K Substitution - Missense 17:41842199-41842199 + TCGA-BR-6452-01 COSM4066465 c.1249G>A p.A417T Substitution - Missense 17:41845690-41845690 + Br04X COSM39319 c.1738G>A p.E580K Substitution - Missense 17:41848218-41848218 + HT115 COSM3187957 c.1707C>T p.C569C Substitution - coding silent 17:41848187-41848187 + OSCC-GB_00580111 COSM4886546 c.77G>T p.C26F Substitution - Missense 17:41838009-41838009 + PTC_279 COSM5959585 c.978G>T p.E326D Substitution - Missense 17:41845419-41845419 + TCGA-HU-A4H4-01 COSM4066460 c.829T>C p.S277P Substitution - Missense 17:41845270-41845270 + CSCC-55-T COSM4512686 c.911C>T p.P304L Substitution - Missense 17:41845352-41845352 + TCGA-B0-5691-01 COSM472797 c.1719A>C p.P573P Substitution - coding silent 17:41848199-41848199 + MO_1054 COSM5558161 c.162G>T p.K54N Substitution - Missense 17:41838094-41838094 + TCGA-BC-A112-01 COSM4936565 c.1702A>C p.S568R Substitution - Missense 17:41848182-41848182 + TCGA-AA-3695-01 COSM268416 c.68C>T p.A23V Substitution - Missense 17:41838000-41838000 + TCGA-AD-6964-01 COSM1383256 c.1165T>C p.Y389H Substitution - Missense 17:41845606-41845606 + sysucc-1397T COSM5473889 c.821C>T p.P274L Substitution - Missense 17:41845262-41845262 + TCGA-D5-6928-01 COSM979341 c.755G>A p.S252N Substitution - Missense 17:41845196-41845196 + LUAD-D01751 COSM338200 c.1496C>A p.A499D Substitution - Missense 17:41847976-41847976 + TCGA-AG-A002-01 COSM261695 c.860G>A p.R287H Substitution - Missense 17:41845301-41845301 + 8015299 COSM3771361 c.299G>A p.R100Q Substitution - Missense 17:41841927-41841927 + TCGA-KK-A59V-01 COSM3731204 c.1753C>T p.R585W Substitution - Missense 17:41848233-41848233 + TCGA-66-2778-01 COSM706342 c.1675G>C p.D559H Substitution - Missense 17:41848155-41848155 + TCGA-CG-5733-01 COSM4066457 c.75C>A p.A25A Substitution - coding silent 17:41838007-41838007 + TCGA-13-0795-01 COSM75164 c.802G>C p.D268H Substitution - Missense 17:41845243-41845243 + PTC-7C COSM4130072 c.1040T>G p.F347C Substitution - Missense 17:41845481-41845481 + TCGA-A5-A0GH-01 COSM979343 c.764G>A p.C255Y Substitution - Missense 17:41845205-41845205 + HCC1954 COSM51119 c.387C>T p.C129C Substitution - coding silent 17:41842015-41842015 + TCGA-A5-A0VP-01 COSM979347 c.1460G>A p.G487D Substitution - Missense 17:41847940-41847940 + ASHPC_0018_Pa_P COSM3787332 c.205A>G p.T69A Substitution - Missense 17:41841833-41841833 + DLD1 COSM4623556 c.658C>A p.Q220K Substitution - Missense 17:41842286-41842286 + TCGA-BR-8487-01 COSM4066459 c.319G>A p.D107N Substitution - Missense 17:41841947-41841947 + TCGA-EQ-8122-01 COSM4066458 c.318G>A p.P106P Substitution - coding silent 17:41841946-41841946 + TCGA-F5-6863-01 COSM5080613 c.51G>T p.M17I Substitution - Missense 17:41837983-41837983 + TCGA-AY-6197-01 COSM1383259 c.1726G>A p.A576T Substitution - Missense 17:41848206-41848206 + TCGA-EK-A3GM-01 COSM4823228 c.121G>A p.V41M Substitution - Missense 17:41838053-41838053 + RK193_C01 COSM3742236 c.650A>G p.N217S Substitution - Missense 17:41842278-41842278 + 234 COSM3731204 c.1753C>T p.R585W Substitution - Missense 17:41848233-41848233 + TCGA-B0-5402-01 COSM472796 c.1297G>T p.G433W Substitution - Missense 17:41845738-41845738 + TCGA-CA-6718-01 COSM1383254 c.920C>A p.A307D Substitution - Missense 17:41845361-41845361 + TCGA-AU-6004-01 COSM1383248 c.194+2T>C p.? Unknown 17:41838128-41838128 + TCGA-AA-A00N-01 COSM275756 c.1113G>A p.P371P Substitution - coding silent 17:41845554-41845554 + 587376 COSM1212610 c.230A>C p.K77T Substitution - Missense 17:41841858-41841858 + HCC035T COSM5816041 c.1173G>A p.M391I Substitution - Missense 17:41845614-41845614 + MO_1410 COSM5570522 c.304G>A p.V102M Substitution - Missense 17:41841932-41841932 + 220 COSM1302824 c.1465G>C p.D489H Substitution - Missense 17:41847945-41847945 + sysucc-1317T COSM5448981 c.21G>A p.A7A Substitution - coding silent 17:41837953-41837953 + pfg043T COSM4753373 c.578A>G p.D193G Substitution - Missense 17:41842206-41842206 + 8049335 COSM3387891 c.986G>A p.R329H Substitution - Missense 17:41845427-41845427 + ATL027 COSM5706392 c.1550G>A p.R517H Substitution - Missense 17:41848030-41848030 + ME009T COSM223877 c.1453G>A p.V485I Substitution - Missense 17:41847933-41847933 + TCGA-F4-6703-01 COSM1383257 c.1221G>A p.E407E Substitution - coding silent 17:41845662-41845662 + TCGA-FW-A3TU-06 COSM3517574 c.1576G>A p.D526N Substitution - Missense 17:41848056-41848056 + TCGA-A6-5661-01 COSM1383255 c.1131C>T p.C377C Substitution - coding silent 17:41845572-41845572 + BD114T COSM5504309 c.1626T>C p.F542F Substitution - coding silent 17:41848106-41848106 + TCGA-DA-A1HY-06 COSM3517573 c.1567G>C p.E523Q Substitution - Missense 17:41848047-41848047 + TCGA-EQ-8122-01 COSM4066462 c.897G>T p.W299C Substitution - Missense 17:41845338-41845338 + PT40 COSM5924076 c.577G>A p.D193N Substitution - Missense 17:41842205-41842205 + ESO-859 COSM1239273 c.522C>A p.V174V Substitution - coding silent 17:41842150-41842150 + HN_62756 COSM124000 c.91G>A p.E31K Substitution - Missense 17:41838023-41838023 + PT33 COSM5909594 c.4G>A p.E2K Substitution - Missense 17:41837936-41837936 + TCGA-BR-8690-01 COSM4066461 c.859C>T p.R287C Substitution - Missense 17:41845300-41845300 + TCGA-BR-4361-01 COSM4066463 c.1043A>G p.D348G Substitution - Missense 17:41845484-41845484 + TCGA-AY-4070-01 COSM301271 c.588T>C p.N196N Substitution - coding silent 17:41842216-41842216 + PT48 COSM979351 c.1654G>A p.D552N Substitution - Missense 17:41848134-41848134 + TCGA-AX-A05Z-01 COSM979351 c.1654G>A p.D552N Substitution - Missense 17:41848134-41848134 + TCGA-BS-A0UA-01 COSM979351 c.1654G>A p.D552N Substitution - Missense 17:41848134-41848134 + TCGA-66-2778-01 COSM706344 c.388G>A p.E130K Substitution - Missense 17:41842016-41842016 + SC_9038 COSM5566245 c.1484G>A p.R495K Substitution - Missense 17:41847964-41847964 + MOLT-4 COSM1679809 c.1780C>T p.R594* Substitution - Nonsense 17:41848260-41848260 + ME100L COSM231369 c.77G>A p.C26Y Substitution - Missense 17:41838009-41838009 + CSCC-27-T COSM4525409 c.132G>A p.K44K Substitution - coding silent 17:41838064-41838064 + T3309 COSM4696443 c.1634A>T p.E545V Substitution - Missense 17:41848114-41848114 + TCGA-DK-A1AC-01 COSM1302823 c.735G>A p.M245I Substitution - Missense 17:41845176-41845176 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.127503;Hs.127504;Hs.127506;Hs.127509;Hs.127510 17q21.2 608778

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P573P c.1719A>C 17 40004451 RCCC A T 5-UTRSNV . c.1-88A>T 17 39994097 RCCC A T Missense p.D107V c.320A>T 17 39998200 CM A T Missense p.D88V c.263A>T 17 39998143 LUAD C A Missense p.R329S c.985C>A 17 40001678 THCA C A Synonymous p.A25A c.75C>A 17 39994259 STAD C A Synonymous p.V174V c.522C>A 17 39998402 ESCA C G Missense p.P511R c.1532C>G 17 40004264 BRCA C T Missense p.A23V c.68C>T 17 39994252 COREAD C T Missense p.A23V c.68C>T 17 39994252 HNSC C T Missense p.P289L c.866C>T 17 40001559 CM C T Missense p.P371L c.1112C>T 17 40001805 STAD C T Missense p.T551I c.1652C>T 17 40004384 CM G A 5-UTRSNV . c.1-89G>A 17 39994096 CM G A Missense p.A202T c.604G>A 17 39998484 CM G A Missense p.A310T c.928G>A 17 40001621 CM G A Missense p.C255Y c.764G>A 17 40001457 UCEC G A Missense p.C26Y c.77G>A 17 39994261 CM G A Missense p.D552N c.1654G>A 17 40004386 UCEC G A Missense p.E130K c.388G>A 17 39998268 LUSC G A Missense p.E31K c.91G>A 17 39994275 HNSC G A Missense p.E421K c.1261G>A 17 40001954 CM G A Missense p.E480K c.1438G>A 17 40003648 CM G A Missense p.E580K c.1738G>A 17 40004470 GBM G A Missense p.G487D c.1460G>A 17 40004192 UCEC G A Missense p.V485I c.1453G>A 17 40004185 CM G A Synonymous p.K550K c.1650G>A 17 40004382 LUAD G A Synonymous p.V109V c.327G>A 17 39998207 CM G C Missense p.D193H c.577G>C 17 39998457 LUSC G C Missense p.D268H c.802G>C 17 40001495 OV G C Missense p.D489H c.1465G>C 17 40004197 BLCA G C Missense p.D559H c.1675G>C 17 40004407 LUSC G C Missense p.E523Q c.1567G>C 17 40004299 CM G T Missense p.G433W c.1297G>T 17 40001990 RCCC T A Missense p.L112Q c.335T>A 17 39998215 LUAD T C Synonymous p.F119F c.357T>C 17 39998237 CM T C Synonymous p.N196N c.588T>C 17 39998468 COREAD