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 7256381 7256381 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr17:7256381G>A c.120G>A c.(118-120)ctG>ctA p.L40L BLCA 17 7256592 7256592 + Missense_Mutation SNP C C G TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr17:7256592C>G c.331C>G c.(331-333)Cac>Gac p.H111D BLCA 17 7256866 7256866 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr17:7256866G>A c.605G>A c.(604-606)cGg>cAg p.R202Q BLCA 17 7256890 7256890 + Missense_Mutation SNP G G A TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr17:7256890G>A c.629G>A c.(628-630)cGa>cAa p.R210Q BLCA 17 7256927 7256927 + Silent SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:7256927C>G c.666C>G c.(664-666)ctC>ctG p.L222L BLCA 17 7256940 7256940 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr17:7256940C>G c.679C>G c.(679-681)Ctg>Gtg p.L227V COAD 17 7256361 7256361 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr17:7256361C>T c.100C>T c.(100-102)Cgg>Tgg p.R34W COAD 17 7256463 7256463 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:7256463C>T c.202C>T c.(202-204)Ccc>Tcc p.P68S COAD 17 7256474 7256474 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr17:7256474C>T c.213C>T c.(211-213)gaC>gaT p.D71D COAD 17 7256746 7256746 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:7256746G>A c.485G>A c.(484-486)cGc>cAc p.R162H COAD 17 7256822 7256822 + Silent SNP G G T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr17:7256822G>T c.561G>T c.(559-561)cgG>cgT p.R187R COADREAD 17 7256361 7256361 + Missense_Mutation SNP C C T TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr17:7256361C>T c.100C>T c.(100-102)Cgg>Tgg p.R34W COADREAD 17 7256463 7256463 + Missense_Mutation SNP C C T TCGA-AA-3821-01A-01W-0995-10 TCGA-AA-3821-10A-01W-0995-10 g.chr17:7256463C>T c.202C>T c.(202-204)Ccc>Tcc p.P68S COADREAD 17 7256474 7256474 + Silent SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr17:7256474C>T c.213C>T c.(211-213)gaC>gaT p.D71D COADREAD 17 7256746 7256746 + Missense_Mutation SNP G G A TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr17:7256746G>A c.485G>A c.(484-486)cGc>cAc p.R162H COADREAD 17 7256822 7256822 + Silent SNP G G T TCGA-AA-3502-01A-01D-1408-10 TCGA-AA-3502-11A-01D-1408-10 g.chr17:7256822G>T c.561G>T c.(559-561)cgG>cgT p.R187R GBMLGG 17 7256633 7256633 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:7256633C>T c.372C>T c.(370-372)gcC>gcT p.A124A HNSC 17 7256424 7256424 + Missense_Mutation SNP G G T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr17:7256424G>T c.163G>T c.(163-165)Gcg>Tcg p.A55S HNSC 17 7256895 7256895 + Missense_Mutation SNP G G C TCGA-CN-5374-01A-01D-1434-08 TCGA-CN-5374-10A-01D-1434-08 g.chr17:7256895G>C c.634G>C c.(634-636)Gac>Cac p.D212H KIPAN 17 7256621 7256621 + Silent SNP C C T TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr17:7256621C>T c.360C>T c.(358-360)gaC>gaT p.D120D KIPAN 17 7256855 7256855 + Missense_Mutation SNP G G T TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr17:7256855G>T c.594G>T c.(592-594)gaG>gaT p.E198D KIRP 17 7256621 7256621 + Silent SNP C C T TCGA-B1-A47M-01A-11D-A25F-10 TCGA-B1-A47M-10A-01D-A25F-10 g.chr17:7256621C>T c.360C>T c.(358-360)gaC>gaT p.D120D KIRP 17 7256855 7256855 + Missense_Mutation SNP G G T TCGA-2Z-A9JT-01A-11D-A42J-10 TCGA-2Z-A9JT-10A-01D-A42M-10 g.chr17:7256855G>T c.594G>T c.(592-594)gaG>gaT p.E198D LGG 17 7256633 7256633 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:7256633C>T c.372C>T c.(370-372)gcC>gcT p.A124A LUAD 17 7256609 7256609 + Silent SNP C C T TCGA-55-7284-01B-11D-2238-08 TCGA-55-7284-10A-01D-2238-08 g.chr17:7256609C>T c.348C>T c.(346-348)tcC>tcT p.S116S LUAD 17 7256789 7256789 + Silent SNP G G T TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr17:7256789G>T c.528G>T c.(526-528)ctG>ctT p.L176L LUSC 17 7256759 7256759 + Silent SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr17:7256759C>T c.498C>T c.(496-498)ctC>ctT p.L166L PAAD 17 7256385 7256385 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:7256385C>A c.124C>A c.(124-126)Ctg>Atg p.L42M PAAD 17 7256609 7256609 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:7256609C>T c.348C>T c.(346-348)tcC>tcT p.S116S PAAD 17 7256700 7256700 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:7256700G>A c.439G>A c.(439-441)Gat>Aat p.D147N PAAD 17 7256823 7256823 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:7256823C>T c.562C>T c.(562-564)Cgg>Tgg p.R188W PRAD 17 7256426 7256426 + Silent SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:7256426G>A c.165G>A c.(163-165)gcG>gcA p.A55A SKCM 17 7256413 7256413 + Missense_Mutation SNP A A C TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:7256413A>C c.152A>C c.(151-153)tAc>tCc p.Y51S SKCM 17 7256414 7256414 + Silent SNP C C T TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:7256414C>T c.153C>T c.(151-153)taC>taT p.Y51Y SKCM 17 7256553 7256553 + Missense_Mutation SNP C C T TCGA-ER-A3PL-06A-11D-A23B-08 TCGA-ER-A3PL-10A-01D-A23B-08 g.chr17:7256553C>T c.292C>T c.(292-294)Ccc>Tcc p.P98S SKCM 17 7256638 7256638 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr17:7256638T>G c.377T>G c.(376-378)cTt>cGt p.L126R SKCM 17 7256688 7256688 + Missense_Mutation SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr17:7256688G>A c.427G>A c.(427-429)Gtg>Atg p.V143M SKCM 17 7256709 7256709 + Missense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr17:7256709G>A c.448G>A c.(448-450)Gag>Aag p.E150K SKCM 17 7256760 7256760 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr17:7256760C>T c.499C>T c.(499-501)Ccc>Tcc p.P167S SKCM 17 7256761 7256761 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr17:7256761C>T c.500C>T c.(499-501)cCc>cTc p.P167L BLCA 1 204124152 204124152 + Missense_Mutation SNP C C T TCGA-FD-A3N5-01A-11D-A21A-08 TCGA-FD-A3N5-10A-01D-A21A-08 g.chr1:204124152C>T c.1213G>A c.(1213-1215)Gcc>Acc p.A405T BLCA 1 204125005 204125005 + Silent SNP G G A TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:204125005G>A c.1002C>T c.(1000-1002)atC>atT p.I334I BLCA 1 204125342 204125342 + Silent SNP G G A TCGA-FD-A3SM-01A-11D-A22Z-08 TCGA-FD-A3SM-10A-01D-A22Z-08 g.chr1:204125342G>A c.924C>T c.(922-924)ctC>ctT p.L308L BLCA 1 204129688 204129688 + Splice_Site SNP G G C TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:204129688G>C c.492C>G c.(490-492)acC>acG p.T164T BLCA 1 204135397 204135397 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr1:204135397G>A c.25C>T c.(25-27)Cgc>Tgc p.R9C BRCA 1 204125433 204125433 + Nonsense_Mutation SNP G G T TCGA-D8-A1J8-01A-11D-A13L-09 TCGA-D8-A1J8-10A-01D-A13O-09 g.chr1:204125433G>T c.833C>A c.(832-834)tCa>tAa p.S278* CESC 1 204129706 204129706 + Silent SNP G G A TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:204129706G>A c.474C>T c.(472-474)ctC>ctT p.L158L CESC 1 204131240 204131240 + Silent SNP A A G TCGA-EA-A3HU-01A-11D-A20U-09 TCGA-EA-A3HU-10B-01D-A20U-09 g.chr1:204131240A>G c.150T>C c.(148-150)ggT>ggC p.G50G CESC 1 204131262 204131262 + Missense_Mutation SNP C C G TCGA-Q1-A5R3-01A-11D-A28B-09 TCGA-Q1-A5R3-10B-01D-A28E-09 g.chr1:204131262C>G c.128G>C c.(127-129)cGa>cCa p.R43P COAD 1 204124235 204124235 + Missense_Mutation SNP G G T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:204124235G>T c.1130C>A c.(1129-1131)cCc>cAc p.P377H COAD 1 204125040 204125040 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr1:204125040C>T c.967G>A c.(967-969)Gtg>Atg p.V323M COAD 1 204125406 204125406 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:204125406C>A c.860G>T c.(859-861)tGc>tTc p.C287F COAD 1 204125866 204125866 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:204125866C>T c.757G>A c.(757-759)Gaa>Aaa p.E253K COAD 1 204128649 204128649 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:204128649C>A c.567G>T c.(565-567)gaG>gaT p.E189D COAD 1 204129789 204129789 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:204129789C>T c.391G>A c.(391-393)Gat>Aat p.D131N COAD 1 204130509 204130509 + Frame_Shift_Del DEL G G - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:204130509delG c.284delC c.(283-285)ccafs p.P96fs COAD 1 204131163 204131163 + Missense_Mutation SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr1:204131163A>G c.227T>C c.(226-228)gTg>gCg p.V76A COAD 1 204131192 204131192 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr1:204131192C>T c.198G>A c.(196-198)agG>agA p.R66R COADREAD 1 204124205 204124205 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204124205C>T c.1160G>A c.(1159-1161)cGa>cAa p.R387Q COADREAD 1 204124235 204124235 + Missense_Mutation SNP G G T TCGA-AA-3956-01A-02W-0995-10 TCGA-AA-3956-10A-01W-0995-10 g.chr1:204124235G>T c.1130C>A c.(1129-1131)cCc>cAc p.P377H COADREAD 1 204125040 204125040 + Missense_Mutation SNP C C T TCGA-AA-A02W-01A-01W-A00E-09 TCGA-AA-A02W-10A-01W-A00E-09 g.chr1:204125040C>T c.967G>A c.(967-969)Gtg>Atg p.V323M COADREAD 1 204125321 204125321 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204125321C>A c.945G>T c.(943-945)aaG>aaT p.K315N COADREAD 1 204125406 204125406 + Missense_Mutation SNP C C A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:204125406C>A c.860G>T c.(859-861)tGc>tTc p.C287F COADREAD 1 204125866 204125866 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr1:204125866C>T c.757G>A c.(757-759)Gaa>Aaa p.E253K COADREAD 1 204128649 204128649 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:204128649C>A c.567G>T c.(565-567)gaG>gaT p.E189D COADREAD 1 204129789 204129789 + Missense_Mutation SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:204129789C>T c.391G>A c.(391-393)Gat>Aat p.D131N COADREAD 1 204130509 204130509 + Frame_Shift_Del DEL G G - TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr1:204130509delG c.284delC c.(283-285)ccafs p.P96fs COADREAD 1 204131163 204131163 + Missense_Mutation SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr1:204131163A>G c.227T>C c.(226-228)gTg>gCg p.V76A COADREAD 1 204131192 204131192 + Silent SNP C C T TCGA-A6-3809-01A-01W-0995-10 TCGA-A6-3809-11A-01W-0995-10 g.chr1:204131192C>T c.198G>A c.(196-198)agG>agA p.R66R COADREAD 1 204131291 204131291 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204131291C>T c.99G>A c.(97-99)cgG>cgA p.R33R ESCA 1 204125333 204125333 + Silent SNP G G T TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr1:204125333G>T c.933C>A c.(931-933)gcC>gcA p.A311A ESCA 1 204131165 204131165 + Silent SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr1:204131165G>A c.225C>T c.(223-225)tcC>tcT p.S75S ESCA 1 204135349 204135349 + Missense_Mutation SNP G G T TCGA-L7-A6VZ-01A-12D-A33E-09 TCGA-L7-A6VZ-10A-01D-A33H-09 g.chr1:204135349G>T c.73C>A c.(73-75)Ccg>Acg p.P25T ESCA 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBM 1 204125330 204125330 + Missense_Mutation SNP C C A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr1:204125330C>A c.936G>T c.(934-936)ttG>ttT p.L312F GBM 1 204129738 204129738 + Missense_Mutation SNP G G A TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr1:204129738G>A c.442C>T c.(442-444)Cgc>Tgc p.R148C GBM 1 204130489 204130489 + Missense_Mutation SNP C C T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr1:204130489C>T c.304G>A c.(304-306)Gtc>Atc p.V102I GBM 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBM 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBMLGG 1 204125330 204125330 + Missense_Mutation SNP C C A TCGA-74-6577-01A-11D-1845-08 TCGA-74-6577-10A-01D-1845-08 g.chr1:204125330C>A c.936G>T c.(934-936)ttG>ttT p.L312F GBMLGG 1 204129738 204129738 + Missense_Mutation SNP G G A TCGA-41-3392-01A-01D-1495-08 TCGA-41-3392-10A-01D-1495-08 g.chr1:204129738G>A c.442C>T c.(442-444)Cgc>Tgc p.R148C GBMLGG 1 204130489 204130489 + Missense_Mutation SNP C C T TCGA-32-2495-01A-01D-1353-08 TCGA-32-2495-10B-01D-1353-08 g.chr1:204130489C>T c.304G>A c.(304-306)Gtc>Atc p.V102I GBMLGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-06-5411-01A-01D-1696-08 TCGA-06-5411-10A-01D-1696-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBMLGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-76-6662-01A-11D-1845-08 TCGA-76-6662-10A-01D-1845-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBMLGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L GBMLGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-DU-A7TD-01A-12D-A34A-08 TCGA-DU-A7TD-10A-01D-A34A-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L HNSC 1 204124207 204124207 + Silent SNP G G A TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:204124207G>A c.1158C>T c.(1156-1158)atC>atT p.I386I HNSC 1 204124947 204124947 + Splice_Site SNP C C A TCGA-CX-7086-01A-11D-2078-08 TCGA-CX-7086-10D-01D-2078-08 g.chr1:204124947C>A c.e9+1 HNSC 1 204124994 204124994 + Missense_Mutation SNP A A G TCGA-CV-6441-01A-11D-1683-08 TCGA-CV-6441-11A-01D-1683-08 g.chr1:204124994A>G c.1013T>C c.(1012-1014)cTg>cCg p.L338P HNSC 1 204128555 204128555 + Missense_Mutation SNP C C G TCGA-CV-6936-01A-11D-1912-08 TCGA-CV-6936-10A-01D-1912-08 g.chr1:204128555C>G c.661G>C c.(661-663)Gag>Cag p.E221Q HNSC 1 204130517 204130517 + Silent SNP G G A TCGA-CR-7364-01A-11D-2012-08 TCGA-CR-7364-10A-01D-2013-08 g.chr1:204130517G>A c.276C>T c.(274-276)atC>atT p.I92I HNSC 1 204131245 204131245 + Silent SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr1:204131245G>T c.145C>A c.(145-147)Cga>Aga p.R49R KIPAN 1 204128614 204128614 + Missense_Mutation SNP T T A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:204128614T>A c.602A>T c.(601-603)cAg>cTg p.Q201L KIRC 1 204128614 204128614 + Missense_Mutation SNP T T A TCGA-CZ-5457-01A-01D-1501-10 TCGA-CZ-5457-11A-01D-1501-10 g.chr1:204128614T>A c.602A>T c.(601-603)cAg>cTg p.Q201L LGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-DU-7292-01A-11D-2024-08 TCGA-DU-7292-10A-01D-2024-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L LGG 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-DU-A7TD-01A-12D-A34A-08 TCGA-DU-A7TD-10A-01D-A34A-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L LUAD 1 204124180 204124180 + Silent SNP C C A TCGA-17-Z018-01A-01W-0746-08 TCGA-17-Z018-11A-01W-0746-08 g.chr1:204124180C>A c.1185G>T c.(1183-1185)cgG>cgT p.R395R LUAD 1 204124295 204124295 + Missense_Mutation SNP C C A TCGA-73-7498-01A-12D-2184-08 TCGA-73-7498-10A-01D-2184-08 g.chr1:204124295C>A c.1070G>T c.(1069-1071)aGt>aTt p.S357I LUAD 1 204124977 204124977 + Missense_Mutation SNP T T C TCGA-55-8620-01A-11D-2393-08 TCGA-55-8620-10A-01D-2393-08 g.chr1:204124977T>C c.1030A>G c.(1030-1032)Acg>Gcg p.T344A LUAD 1 204125416 204125416 + Missense_Mutation SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr1:204125416C>T c.850G>A c.(850-852)Gaa>Aaa p.E284K LUAD 1 204125889 204125889 + Missense_Mutation SNP C C T TCGA-17-Z057-01A-01W-0747-08 TCGA-17-Z057-11A-01W-0747-08 g.chr1:204125889C>T c.734G>A c.(733-735)gGa>gAa p.G245E LUAD 1 204128652 204128652 + Silent SNP G G A TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 g.chr1:204128652G>A c.564C>T c.(562-564)gcC>gcT p.A188A LUAD 1 204128682 204128682 + Silent SNP C C G TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:204128682C>G c.534G>C c.(532-534)acG>acC p.T178T LUAD 1 204130499 204130499 + Silent SNP G G T TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr1:204130499G>T c.294C>A c.(292-294)acC>acA p.T98T LUAD 1 204131252 204131252 + Silent SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr1:204131252C>T c.138G>A c.(136-138)ctG>ctA p.L46L LUAD 1 204131262 204131262 + Missense_Mutation SNP C C T TCGA-55-A48Y-01A-11D-A24D-08 TCGA-55-A48Y-10A-01D-A24F-08 g.chr1:204131262C>T c.128G>A c.(127-129)cGa>cAa p.R43Q LUAD 1 204135377 204135377 + Silent SNP C C A TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr1:204135377C>A c.45G>T c.(43-45)ctG>ctT p.L15L LUAD 1 204135378 204135378 + Missense_Mutation SNP A A G TCGA-86-8279-01A-11D-2284-08 TCGA-86-8279-10A-01D-2284-08 g.chr1:204135378A>G c.44T>C c.(43-45)cTg>cCg p.L15P LUSC 1 204131207 204131207 + Silent SNP G G A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr1:204131207G>A c.183C>T c.(181-183)agC>agT p.S61S OV 1 204124169 204124169 + Missense_Mutation SNP C C T TCGA-13-2057-01A-02D-1526-09 TCGA-13-2057-10A-01D-1526-09 g.chr1:204124169C>T c.1196G>A c.(1195-1197)cGc>cAc p.R399H OV 1 204129729 204129729 + Missense_Mutation SNP T T C TCGA-23-1114-01B-01W-0633-09 TCGA-23-1114-10A-01W-0633-09 g.chr1:204129729T>C c.451A>G c.(451-453)Aca>Gca p.T151A PAAD 1 204128549 204128549 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:204128549C>T c.667G>A c.(667-669)Gtc>Atc p.V223I PAAD 1 204128681 204128681 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:204128681C>T c.535G>A c.(535-537)Gag>Aag p.E179K PAAD 1 204130425 204130425 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:204130425G>A c.368C>T c.(367-369)gCc>gTc p.A123V PAAD 1 204135375 204135377 + In_Frame_Del DEL AGC AGC - TCGA-FZ-5922-01A-11D-1609-08 TCGA-FZ-5922-11A-01D-1609-08 g.chr1:204135375_204135377delAGC c.45_47delGCT c.(43-48)ctgctc>ctc p.15_16LL>L PRAD 1 204128550 204128550 + Silent SNP G G A TCGA-YL-A8HL-01A-11D-A364-08 TCGA-YL-A8HL-10A-01D-A362-08 g.chr1:204128550G>A c.666C>T c.(664-666)gaC>gaT p.D222D READ 1 204124205 204124205 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204124205C>T c.1160G>A c.(1159-1161)cGa>cAa p.R387Q READ 1 204125321 204125321 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204125321C>A c.945G>T c.(943-945)aaG>aaT p.K315N READ 1 204131291 204131291 + Splice_Site SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:204131291C>T c.99G>A c.(97-99)cgG>cgA p.R33R SARC 1 204125025 204125025 + Missense_Mutation SNP C C G TCGA-3B-A9HI-01A-11D-A387-09 TCGA-3B-A9HI-10A-01D-A38A-09 g.chr1:204125025C>G c.982G>C c.(982-984)Ggc>Cgc p.G328R SKCM 1 204124159 204124159 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:204124159G>A c.1206C>T c.(1204-1206)ttC>ttT p.F402F SKCM 1 204124271 204124271 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:204124271G>A c.1094C>T c.(1093-1095)gCc>gTc p.A365V SKCM 1 204125360 204125360 + Silent SNP G G A TCGA-EE-A3AH-06A-11D-A196-08 TCGA-EE-A3AH-10A-01D-A198-08 g.chr1:204125360G>A c.906C>T c.(904-906)acC>acT p.T302T SKCM 1 204125846 204125846 + Silent SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr1:204125846G>A c.777C>T c.(775-777)atC>atT p.I259I SKCM 1 204125862 204125862 + Missense_Mutation SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:204125862C>T c.761G>A c.(760-762)gGg>gAg p.G254E SKCM 1 204125919 204125919 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:204125919G>A c.704C>T c.(703-705)tCc>tTc p.S235F SKCM 1 204125924 204125924 + Splice_Site SNP C C T TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr1:204125924C>T c.699G>A c.(697-699)gaG>gaA p.E233E SKCM 1 204125925 204125925 + Splice_Site SNP C C T TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr1:204125925C>T c.e7-1 SKCM 1 204128574 204128574 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:204128574G>A c.642C>T c.(640-642)atC>atT p.I214I SKCM 1 204128682 204128682 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:204128682C>T c.534G>A c.(532-534)acG>acA p.T178T SKCM 1 204128724 204128724 + Splice_Site SNP C C T TCGA-FS-A4FC-06A-11D-A24R-08 TCGA-FS-A4FC-10A-01D-A24R-08 g.chr1:204128724C>T c.e5-1 SKCM 1 204129755 204129755 + Missense_Mutation SNP C C T TCGA-EE-A29E-06A-11D-A197-08 TCGA-EE-A29E-10A-01D-A199-08 g.chr1:204129755C>T c.425G>A c.(424-426)gGa>gAa p.G142E SKCM 1 204129756 204129756 + Missense_Mutation SNP C C T TCGA-DA-A3F8-06A-11D-A20D-08 TCGA-DA-A3F8-10A-01D-A20D-08 g.chr1:204129756C>T c.424G>A c.(424-426)Gga>Aga p.G142R SKCM 1 204129781 204129781 + Silent SNP C C G TCGA-EE-A2GB-06A-11D-A197-08 TCGA-EE-A2GB-10A-01D-A199-08 g.chr1:204129781C>G c.399G>C c.(397-399)tcG>tcC p.S133S SKCM 1 204129793 204129793 + Silent SNP G G A TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:204129793G>A c.387C>T c.(385-387)ctC>ctT p.L129L SKCM 1 204129793 204129793 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:204129793G>A c.387C>T c.(385-387)ctC>ctT p.L129L SKCM 1 204129794 204129794 + Missense_Mutation SNP A A T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr1:204129794A>T c.386T>A c.(385-387)cTc>cAc p.L129H SKCM 1 204131262 204131262 + Missense_Mutation SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr1:204131262C>T c.128G>A c.(127-129)cGa>cAa p.R43Q SKCM 1 204135391 204135391 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:204135391C>T c.31G>A c.(31-33)Gga>Aga p.G11R SKCM 1 204135392 204135392 + Nonsense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:204135392C>T c.30G>A c.(28-30)tgG>tgA p.W10*

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 17 7250445 7250445 single base substitution C T upstream_gene_variant BLCA-US 17 7250491 7250491 single base substitution G A upstream_gene_variant BLCA-US 17 7253548 7253548 single base substitution C G upstream_gene_variant BLCA-US 17 7256381 7256381 single base substitution G A downstream_gene_variant BLCA-US 17 7256381 7256381 single base substitution G A synonymous_variant L40L 120G>A BLCA-US 17 7256592 7256592 single base substitution C G downstream_gene_variant BLCA-US 17 7256592 7256592 single base substitution C G missense_variant H111D 331C>G BLCA-US 17 7256927 7256927 single base substitution C G downstream_gene_variant BLCA-US 17 7256927 7256927 single base substitution C G synonymous_variant L222L 666C>G BLCA-US 17 7256940 7256940 single base substitution C G downstream_gene_variant BLCA-US 17 7256940 7256940 single base substitution C G missense_variant L227V 679C>G BLCA-US 17 7258907 7258907 single base substitution G A downstream_gene_variant BRCA-EU 17 7251783 7251783 single base substitution G C upstream_gene_variant BRCA-EU 17 7251870 7251870 single base substitution G C upstream_gene_variant BRCA-EU 17 7253377 7253377 single base substitution G A upstream_gene_variant BRCA-EU 17 7253757 7253757 single base substitution G C upstream_gene_variant BRCA-KR 17 7254578 7254578 single base substitution G A upstream_gene_variant BRCA-UK 17 7253332 7253332 deletion of <=200bp C - upstream_gene_variant BRCA-US 17 7251307 7251307 single base substitution G A upstream_gene_variant BRCA-US 17 7259742 7259742 single base substitution G A downstream_gene_variant BRCA-US 17 7259966 7259966 single base substitution T C downstream_gene_variant BTCA-JP 17 7252274 7252274 single base substitution G A upstream_gene_variant CESC-US 17 7252323 7252323 single base substitution C T upstream_gene_variant CESC-US 17 7252471 7252471 single base substitution C G upstream_gene_variant CESC-US 17 7253489 7253489 single base substitution C G upstream_gene_variant COAD-US 17 7250520 7250520 single base substitution C T upstream_gene_variant COAD-US 17 7251702 7251702 single base substitution G A upstream_gene_variant COAD-US 17 7253289 7253289 single base substitution T G upstream_gene_variant COAD-US 17 7256361 7256361 single base substitution C T downstream_gene_variant COAD-US 17 7256361 7256361 single base substitution C T missense_variant R34W 100C>T COAD-US 17 7256746 7256746 single base substitution G A downstream_gene_variant COAD-US 17 7256746 7256746 single base substitution G A missense_variant R162H 485G>A COAD-US 17 7256822 7256822 single base substitution G T downstream_gene_variant COAD-US 17 7256822 7256822 single base substitution G T synonymous_variant R187R 561G>T COCA-CN 17 7251243 7251243 single base substitution G A upstream_gene_variant COCA-CN 17 7251649 7251649 single base substitution C T upstream_gene_variant COCA-CN 17 7252367 7252367 single base substitution G A upstream_gene_variant COCA-CN 17 7253226 7253226 single base substitution T C upstream_gene_variant COCA-CN 17 7253268 7253268 single base substitution C A upstream_gene_variant COCA-CN 17 7253591 7253591 single base substitution G A upstream_gene_variant COCA-CN 17 7256680 7256680 single base substitution G A downstream_gene_variant COCA-CN 17 7256680 7256680 single base substitution G A missense_variant R140Q 419G>A COCA-CN 17 7259248 7259248 single base substitution G A downstream_gene_variant COCA-CN 17 7259524 7259524 single base substitution C T downstream_gene_variant COCA-CN 17 7260121 7260121 single base substitution A C downstream_gene_variant EOPC-DE 17 7250763 7250763 single base substitution T A upstream_gene_variant ESAD-UK 17 7252894 7252894 single base substitution C T upstream_gene_variant ESAD-UK 17 7255315 7255315 single base substitution C G 5_prime_UTR_variant ESAD-UK 17 7255315 7255315 single base substitution C G exon_variant ESAD-UK 17 7260928 7260928 deletion of <=200bp A - downstream_gene_variant ESAD-UK 17 7262238 7262238 insertion of <=200bp - A downstream_gene_variant ESCA-CN 17 7254303 7254303 single base substitution G A upstream_gene_variant GBM-US 17 7253543 7253543 single base substitution G A upstream_gene_variant KIRP-US 17 7250507 7250507 single base substitution G A upstream_gene_variant KIRP-US 17 7256621 7256621 single base substitution C T downstream_gene_variant KIRP-US 17 7256621 7256621 single base substitution C T synonymous_variant D120D 360C>T LAML-KR 17 7251605 7251605 single base substitution G C upstream_gene_variant LAML-KR 17 7259073 7259073 single base substitution C T downstream_gene_variant LGG-US 17 7250531 7250531 single base substitution C T upstream_gene_variant LIAD-FR 17 7254315 7254315 single base substitution G A upstream_gene_variant LICA-CN 17 7251664 7251664 single base substitution G A upstream_gene_variant LICA-CN 17 7254685 7254685 single base substitution C A upstream_gene_variant LIHC-US 17 7251303 7251303 single base substitution T A upstream_gene_variant LIHC-US 17 7259191 7259191 single base substitution T C downstream_gene_variant LINC-JP 17 7250550 7250550 single base substitution C A upstream_gene_variant LINC-JP 17 7252316 7252316 deletion of <=200bp C - upstream_gene_variant LINC-JP 17 7252570 7252570 single base substitution C T upstream_gene_variant LINC-JP 17 7256596 7256596 single base substitution A G downstream_gene_variant LINC-JP 17 7256596 7256596 single base substitution A G missense_variant Y112C 335A>G LIRI-JP 17 7258904 7258904 single base substitution G A downstream_gene_variant LIRI-JP 17 7259823 7259823 single base substitution A T downstream_gene_variant LIRI-JP 17 7260295 7260295 single base substitution C T downstream_gene_variant LIRI-JP 17 7260756 7260756 single base substitution C T downstream_gene_variant LUSC-KR 17 7256248 7256248 single base substitution G A 5_prime_UTR_variant LUSC-KR 17 7256248 7256248 single base substitution G A downstream_gene_variant LUSC-KR 17 7258481 7258481 single base substitution C T downstream_gene_variant LUSC-KR 17 7261404 7261404 single base substitution G T downstream_gene_variant LUSC-US 17 7253320 7253320 single base substitution G C upstream_gene_variant LUSC-US 17 7256759 7256759 single base substitution C T downstream_gene_variant LUSC-US 17 7256759 7256759 single base substitution C T synonymous_variant L166L 498C>T MALY-DE 17 7252601 7252601 single base substitution T C upstream_gene_variant MALY-DE 17 7259369 7259369 single base substitution G A downstream_gene_variant MELA-AU 17 7250316 7250316 single base substitution C T upstream_gene_variant MELA-AU 17 7250334 7250334 single base substitution C T upstream_gene_variant MELA-AU 17 7250595 7250595 single base substitution C T upstream_gene_variant MELA-AU 17 7250643 7250643 single base substitution C T upstream_gene_variant MELA-AU 17 7250743 7250743 single base substitution G A upstream_gene_variant MELA-AU 17 7251270 7251270 single base substitution G A upstream_gene_variant MELA-AU 17 7251310 7251310 single base substitution G T upstream_gene_variant MELA-AU 17 7251337 7251337 single base substitution G A upstream_gene_variant MELA-AU 17 7251350 7251350 single base substitution G A upstream_gene_variant MELA-AU 17 7251566 7251566 single base substitution G A upstream_gene_variant MELA-AU 17 7252021 7252021 single base substitution G A upstream_gene_variant MELA-AU 17 7252097 7252097 single base substitution G A upstream_gene_variant MELA-AU 17 7252327 7252327 single base substitution G A upstream_gene_variant MELA-AU 17 7252504 7252504 single base substitution C T upstream_gene_variant MELA-AU 17 7254309 7254309 single base substitution G A upstream_gene_variant MELA-AU 17 7255099 7255099 single base substitution G A upstream_gene_variant MELA-AU 17 7255421 7255421 single base substitution G A 5_prime_UTR_variant MELA-AU 17 7255421 7255421 single base substitution G A exon_variant MELA-AU 17 7256379 7256379 single base substitution C T downstream_gene_variant MELA-AU 17 7256379 7256379 single base substitution C T synonymous_variant L40L 118C>T MELA-AU 17 7256820 7256820 single base substitution C T downstream_gene_variant MELA-AU 17 7256820 7256820 single base substitution C T missense_variant R187W 559C>T MELA-AU 17 7258088 7258088 single base substitution G A 3_prime_UTR_variant MELA-AU 17 7258088 7258088 single base substitution G A downstream_gene_variant MELA-AU 17 7258553 7258553 single base substitution C T downstream_gene_variant MELA-AU 17 7259218 7259218 single base substitution C T downstream_gene_variant MELA-AU 17 7259554 7259554 single base substitution G A downstream_gene_variant MELA-AU 17 7260034 7260034 single base substitution C T downstream_gene_variant MELA-AU 17 7260295 7260295 single base substitution C T downstream_gene_variant MELA-AU 17 7260594 7260594 single base substitution G A downstream_gene_variant MELA-AU 17 7260843 7260843 single base substitution G A downstream_gene_variant MELA-AU 17 7260859 7260859 single base substitution G A downstream_gene_variant MELA-AU 17 7260917 7260917 single base substitution A G downstream_gene_variant MELA-AU 17 7261009 7261009 single base substitution T G downstream_gene_variant MELA-AU 17 7261100 7261100 single base substitution G A downstream_gene_variant MELA-AU 17 7261236 7261236 single base substitution G A downstream_gene_variant MELA-AU 17 7261357 7261358 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 7261824 7261824 single base substitution G A downstream_gene_variant MELA-AU 17 7261999 7261999 single base substitution G A downstream_gene_variant MELA-AU 17 7262606 7262606 single base substitution G T downstream_gene_variant MELA-AU 17 7262780 7262780 single base substitution G A downstream_gene_variant MELA-AU 17 7262940 7262940 single base substitution C T downstream_gene_variant ORCA-IN 17 7255830 7255830 single base substitution G A 5_prime_UTR_variant ORCA-IN 17 7255830 7255830 single base substitution G A exon_variant OV-AU 17 7255056 7255056 single base substitution C G upstream_gene_variant OV-AU 17 7255886 7255886 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 17 7255886 7255886 single base substitution C T exon_variant OV-AU 17 7259791 7259791 single base substitution C T downstream_gene_variant OV-AU 17 7261119 7261119 single base substitution C A downstream_gene_variant OV-AU 17 7261552 7261552 single base substitution A T downstream_gene_variant PACA-AU 17 7262381 7262381 single base substitution C T downstream_gene_variant PACA-AU 17 7262618 7262618 single base substitution C T downstream_gene_variant PACA-CA 17 7250410 7250410 single base substitution G T upstream_gene_variant PACA-CA 17 7259242 7259242 single base substitution C T downstream_gene_variant PACA-CA 17 7259369 7259369 single base substitution G C downstream_gene_variant PACA-CA 17 7259513 7259513 insertion of <=200bp - G downstream_gene_variant PACA-CA 17 7259832 7259832 single base substitution C T downstream_gene_variant PACA-CA 17 7262498 7262498 single base substitution T C downstream_gene_variant PBCA-DE 17 7251720 7251720 single base substitution G A upstream_gene_variant PBCA-DE 17 7257848 7257849 deletion of <=200bp GT - 3_prime_UTR_variant PBCA-DE 17 7257848 7257849 deletion of <=200bp GT - downstream_gene_variant PBCA-DE 17 7260896 7260896 single base substitution A G downstream_gene_variant PBCA-DE 17 7260899 7260899 single base substitution A G downstream_gene_variant PRAD-UK 17 7261216 7261216 single base substitution G A downstream_gene_variant PRAD-US 17 7250419 7250419 single base substitution C T upstream_gene_variant READ-US 17 7259205 7259205 single base substitution G A downstream_gene_variant RECA-EU 17 7254422 7254422 single base substitution A G upstream_gene_variant RECA-EU 17 7254743 7254743 single base substitution T C upstream_gene_variant RECA-EU 17 7256662 7256662 single base substitution T C downstream_gene_variant RECA-EU 17 7256662 7256662 single base substitution T C missense_variant L134P 401T>C RECA-EU 17 7257631 7257631 single base substitution G T 3_prime_UTR_variant RECA-EU 17 7257631 7257631 single base substitution G T downstream_gene_variant RECA-EU 17 7260868 7260868 single base substitution G A downstream_gene_variant RECA-EU 17 7260896 7260896 single base substitution A G downstream_gene_variant SKCA-BR 17 7251128 7251128 single base substitution T C upstream_gene_variant SKCA-BR 17 7252698 7252698 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 17 7255314 7255314 single base substitution T C 5_prime_UTR_variant SKCA-BR 17 7255314 7255314 single base substitution T C exon_variant SKCA-BR 17 7256383 7256383 single base substitution G A downstream_gene_variant SKCA-BR 17 7256383 7256383 single base substitution G A missense_variant R41K 122G>A SKCA-BR 17 7256384 7256384 single base substitution G A downstream_gene_variant SKCA-BR 17 7256384 7256384 single base substitution G A synonymous_variant R41R 123G>A SKCA-BR 17 7256830 7256830 single base substitution T G downstream_gene_variant SKCA-BR 17 7256830 7256830 single base substitution T G missense_variant V190G 569T>G SKCA-BR 17 7256869 7256869 single base substitution T G downstream_gene_variant SKCA-BR 17 7256869 7256869 single base substitution T G missense_variant V203G 608T>G SKCA-BR 17 7259323 7259323 single base substitution A C downstream_gene_variant SKCA-BR 17 7259355 7259355 single base substitution T C downstream_gene_variant SKCA-BR 17 7259864 7259864 single base substitution C T downstream_gene_variant SKCA-BR 17 7260896 7260914 deletion of <=200bp AGAAGAAGAAGAAGAAGAG - downstream_gene_variant SKCA-BR 17 7261416 7261416 single base substitution C T downstream_gene_variant SKCA-BR 17 7263105 7263105 single base substitution C T downstream_gene_variant SKCA-BR 17 7263168 7263184 deletion of <=200bp TTTTATTTATTTATTTA - downstream_gene_variant SKCM-US 17 7250233 7250233 single base substitution C T upstream_gene_variant SKCM-US 17 7250350 7250350 single base substitution G A upstream_gene_variant SKCM-US 17 7251257 7251257 single base substitution T C upstream_gene_variant SKCM-US 17 7251270 7251270 single base substitution G A upstream_gene_variant SKCM-US 17 7251514 7251514 single base substitution G A upstream_gene_variant SKCM-US 17 7252386 7252386 single base substitution C T upstream_gene_variant SKCM-US 17 7256553 7256553 single base substitution C T downstream_gene_variant SKCM-US 17 7256553 7256553 single base substitution C T missense_variant P98S 292C>T SKCM-US 17 7256638 7256638 single base substitution T G downstream_gene_variant SKCM-US 17 7256638 7256638 single base substitution T G missense_variant L126R 377T>G SKCM-US 17 7256688 7256688 single base substitution G A downstream_gene_variant SKCM-US 17 7256688 7256688 single base substitution G A missense_variant V143M 427G>A SKCM-US 17 7256709 7256709 single base substitution G A downstream_gene_variant SKCM-US 17 7256709 7256709 single base substitution G A missense_variant E150K 448G>A SKCM-US 17 7256760 7256760 single base substitution C T downstream_gene_variant SKCM-US 17 7256760 7256760 single base substitution C T missense_variant P167S 499C>T SKCM-US 17 7256761 7256761 single base substitution C T downstream_gene_variant SKCM-US 17 7256761 7256761 single base substitution C T missense_variant P167L 500C>T SKCM-US 17 7258682 7258682 single base substitution C T downstream_gene_variant SKCM-US 17 7259169 7259169 single base substitution C T downstream_gene_variant SKCM-US 17 7259218 7259218 single base substitution C T downstream_gene_variant STAD-US 17 7250404 7250404 single base substitution G A upstream_gene_variant STAD-US 17 7250431 7250431 single base substitution G A upstream_gene_variant STAD-US 17 7252342 7252342 single base substitution G A upstream_gene_variant STAD-US 17 7253540 7253540 single base substitution G A upstream_gene_variant STAD-US 17 7256302 7256302 single base substitution C T downstream_gene_variant STAD-US 17 7256302 7256302 single base substitution C T missense_variant P14L 41C>T STAD-US 17 7256323 7256323 single base substitution G A downstream_gene_variant STAD-US 17 7256323 7256323 single base substitution G A missense_variant G21D 62G>A STAD-US 17 7256534 7256534 single base substitution C T downstream_gene_variant STAD-US 17 7256534 7256534 single base substitution C T synonymous_variant H91H 273C>T STAD-US 17 7258584 7258584 single base substitution C T downstream_gene_variant STAD-US 17 7259720 7259720 single base substitution A G downstream_gene_variant THCA-US 17 7251632 7251632 single base substitution A G upstream_gene_variant UCEC-US 17 7250513 7250513 single base substitution G T upstream_gene_variant UCEC-US 17 7252364 7252364 single base substitution C T upstream_gene_variant UCEC-US 17 7252365 7252365 single base substitution G A upstream_gene_variant UCEC-US 17 7252458 7252458 single base substitution C T upstream_gene_variant UCEC-US 17 7253451 7253451 single base substitution C A upstream_gene_variant UCEC-US 17 7256535 7256535 single base substitution G A downstream_gene_variant UCEC-US 17 7256535 7256535 single base substitution G A missense_variant A92T 274G>A UCEC-US 17 7256762 7256762 single base substitution C T downstream_gene_variant UCEC-US 17 7256762 7256762 single base substitution C T synonymous_variant P167P 501C>T UCEC-US 17 7258534 7258534 single base substitution T C downstream_gene_variant UCEC-US 17 7259722 7259722 single base substitution C A downstream_gene_variant UCEC-US 17 7259773 7259773 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C086 COSM5538112 c.141G>A p.K47K Substitution - coding silent 1:204162121-204162121 - SNU-175 COSM2214137 c.160G>A p.A54T Substitution - Missense 1:204162102-204162102 - 19 COSM5745791 c.986C>A p.P329H Substitution - Missense 1:204155893-204155893 - TCGA-HU-A4G8-01 COSM4027219 c.356G>A p.R119H Substitution - Missense 1:204161309-204161309 - ATL035 COSM5705161 c.1217G>A p.R406H Substitution - Missense 1:204155020-204155020 - RKO COSM2214114 c.1206C>T p.F402F Substitution - coding silent 1:204155031-204155031 - TCGA-EE-A2MR-06 COSM3481943 c.704C>T p.S235F Substitution - Missense 1:204156791-204156791 - TCGA-D5-6930-01 COSM1338056 c.284delC p.P95fs*76 Deletion - Frameshift 1:204161381-204161381 - 587220 COSM1223531 c.74C>T p.P25L Substitution - Missense 1:204166220-204166220 - YUNEKI COSM5379277 c.1044G>A p.A348A Substitution - coding silent 1:204155835-204155835 - TCGA-AA-3502-01 COSM1386225 c.561G>T p.R187R Substitution - coding silent 17:7353503-7353503 + TCGA-GN-A266-06 COSM3521833 c.427G>A p.V143M Substitution - Missense 17:7353369-7353369 + A9 COSM2214118 c.1041C>T p.S347S Substitution - coding silent 1:204155838-204155838 - PDA_087 COSM5002868 c.340C>A p.L114M Substitution - Missense 17:7353282-7353282 + PT48 COSM5930698 c.574G>A p.G192R Substitution - Missense 1:204159514-204159514 - TCGA-23-1114-01 COSM1320563 c.451A>G p.T151A Substitution - Missense 1:204160601-204160601 - CHEWS030 COSM4576782 c.663G>A p.E221E Substitution - coding silent 1:204159425-204159425 - SC_9003 COSM1386224 c.485G>A p.R162H Substitution - Missense 17:7353427-7353427 + AOCS-141-8-0 COSM3943347 c.741C>T p.S247S Substitution - coding silent 1:204156754-204156754 - TCGA-FS-A1Z3-06 COSM3521836 c.500C>T p.P167L Substitution - Missense 17:7353442-7353442 + BN15 COSM1601548 c.565G>A p.E189K Substitution - Missense 1:204159523-204159523 - TCGA-DK-A3WW-01 COSM3796044 c.679C>G p.L227V Substitution - Missense 17:7353621-7353621 + TCGA-EE-A2GB-06 COSM3481953 c.399G>C p.S133S Substitution - coding silent 1:204160653-204160653 - HCC2998 COSM2977682 c.388G>A p.D130N Substitution - Missense 17:7353330-7353330 + WSU-HN12 COSM4601295 c.574G>T p.G192W Substitution - Missense 1:204159514-204159514 - SJOS007_D COSM5024066 c.723G>T p.Q241H Substitution - Missense 1:204156772-204156772 - T263 COSM4694783 c.71A>G p.Y24C Substitution - Missense 17:7353013-7353013 + LUAD-CHTN-MAD06-00668 COSM359055 c.414G>T p.R138R Substitution - coding silent 17:7353356-7353356 + TCGA-BR-A4IV-01 COSM4027218 c.1153T>A p.F385I Substitution - Missense 1:204155084-204155084 - SJOS001_M COSM5023397 c.644T>C p.F215S Substitution - Missense 17:7353586-7353586 + C086 COSM1264000 c.912C>T p.S304S Substitution - coding silent 1:204156226-204156226 - LP6005409-DNA_A01 COSM5952046 c.730C>A p.L244M Substitution - Missense 1:204156765-204156765 - TCGA-BR-8483-01 COSM4027220 c.249C>T p.D83D Substitution - coding silent 1:204162013-204162013 - TCGA-Q1-A5R3-01 COSM4833961 c.128G>C p.R43P Substitution - Missense 1:204162134-204162134 - TCGA-FD-A3SM-01 COSM3789364 c.924C>T p.L308L Substitution - coding silent 1:204156214-204156214 - TCGA-B1-A47M-01 COSM4414701 c.360C>T p.D120D Substitution - coding silent 17:7353302-7353302 + YUGAFFE COSM1689657 c.424G>A p.G142R Substitution - Missense 1:204160628-204160628 - ccRCC-96 COSM1660091 c.707A>C p.Q236P Substitution - Missense 1:204156788-204156788 - TCGA-BR-6566-01 COSM4069367 c.273C>T p.H91H Substitution - coding silent 17:7353215-7353215 + OSCC-GB_00410111 COSM3710515 c.492C>T p.T164T Substitution - coding silent 1:204160560-204160560 - CSCC-42-T COSM4459821 c.1141C>A p.L381M Substitution - Missense 1:204155096-204155096 - LUAD-RT-S01702 COSM379122 c.691C>T p.R231W Substitution - Missense 17:7353633-7353633 + TCGA-DK-A1AF-01 COSM1303303 c.331C>G p.H111D Substitution - Missense 17:7353273-7353273 + SH-0829 COSM5017955 c.481G>A p.D161N Substitution - Missense 1:204160571-204160571 - CSCC-31-T COSM4518159 c.53_54CC>TT p.S18F Substitution - Missense 17:7352995-7352996 + SWE-2A COSM1178135 c.966C>A p.V322V Substitution - coding silent 1:204155913-204155913 - STC297 COSM5052986 c.26G>A p.R9H Substitution - Missense 1:204166268-204166268 - TCGA-CD-5813-01 COSM1264002 c.880G>A p.G294S Substitution - Missense 1:204156258-204156258 - TCGA-41-3392-01 COSM3400222 c.442C>T p.R148C Substitution - Missense 1:204160610-204160610 - RK126_C01 COSM1626755 c.948G>A p.K316K Substitution - coding silent 1:204156190-204156190 - TCGA-74-6577-01 COSM3400221 c.936G>T p.L312F Substitution - Missense 1:204156202-204156202 - C0055T COSM4151744 c.401T>C p.L134P Substitution - Missense 17:7353343-7353343 + PTC-28C COSM4130575 c.156A>C p.G52G Substitution - coding silent 17:7353098-7353098 + TCGA-D8-A1J8-01 COSM3803553 c.833C>A p.S278* Substitution - Nonsense 1:204156305-204156305 - ACA42 COSM5961671 c.377A>G p.Y126C Substitution - Missense 1:204160675-204160675 - CSCC-6-T COSM4513312 c.933C>T p.A311A Substitution - coding silent 1:204156205-204156205 - TCGA-B5-A0JR-01 COSM902561 c.1126G>A p.G376R Substitution - Missense 1:204155111-204155111 - CRC-06T COSM5456242 c.581T>C p.V194A Substitution - Missense 1:204159507-204159507 - S00829 COSM5659982 c.238C>A p.Q80K Substitution - Missense 17:7353180-7353180 + 2521243 COSM5886096 c.817G>A p.G273R Substitution - Missense 1:204156678-204156678 - TCGA-66-2785-01 COSM678027 c.183C>T p.S61S Substitution - coding silent 1:204162079-204162079 - PT48 COSM5933591 c.671C>T p.S224F Substitution - Missense 17:7353613-7353613 + TCGA-AY-6386-01 COSM1386223 c.100C>T p.R34W Substitution - Missense 17:7353042-7353042 + TCGA-BS-A0UV-01 COSM383892 c.501C>T p.P167P Substitution - coding silent 17:7353443-7353443 + 40M COSM3481952 c.425G>A p.G142E Substitution - Missense 1:204160627-204160627 - LS411 COSM2977675 c.220C>T p.R74W Substitution - Missense 17:7353162-7353162 + BK0002 COSM4185431 c.17T>G p.F6C Substitution - Missense 17:7352959-7352959 + TCGA-BS-A0UF-01 COSM902566 c.390C>T p.F130F Substitution - coding silent 1:204160662-204160662 - TCGA-AP-A059-01 COSM984080 c.274G>A p.A92T Substitution - Missense 17:7353216-7353216 + 112 COSM5010696 c.752A>G p.H251R Substitution - Missense 1:204156743-204156743 - S02285 COSM5684350 c.1005T>C p.S335S Substitution - coding silent 1:204155874-204155874 - TCGA-FS-A1ZZ-06 COSM3521834 c.448G>A p.E150K Substitution - Missense 17:7353390-7353390 + TCGA-DK-A1A3-01 COSM414685 c.492C>G p.T164T Substitution - coding silent 1:204160560-204160560 - Pat_74_A COSM1601548 c.565G>A p.E189K Substitution - Missense 1:204159523-204159523 - TCGA-AA-3821-01 COSM294481 c.202C>T p.P68S Substitution - Missense 17:7353144-7353144 + TCGA-AD-6895-01 COSM1386224 c.485G>A p.R162H Substitution - Missense 17:7353427-7353427 + ESO-120 COSM1264001 c.705C>T p.S235S Substitution - coding silent 1:204156790-204156790 - TCGA-DK-A1AC-01 COSM1295734 c.1002C>T p.I334I Substitution - coding silent 1:204155877-204155877 - VLTS-3 COSM5702818 c.979G>A p.E327K Substitution - Missense 1:204155900-204155900 - YUNEKI COSM5379278 c.262G>A p.G88S Substitution - Missense 1:204161403-204161403 - ESCC-211T COSM3934404 c.492+1G>A p.? Unknown 1:204160559-204160559 - TCGA-DA-A1IC-06 COSM2214138 c.128G>A p.R43Q Substitution - Missense 1:204162134-204162134 - T3021 COSM4694784 c.146G>A p.R49H Substitution - Missense 17:7353088-7353088 + TCGA-DK-A3IT-01 COSM1295735 c.25C>T p.R9C Substitution - Missense 1:204166269-204166269 - LUAD-RT-S01818 COSM383892 c.501C>T p.P167P Substitution - coding silent 17:7353443-7353443 + Au3 COSM5602197 c.456G>A p.G152G Substitution - coding silent 1:204160596-204160596 - TCGA-DA-A3F8-06 COSM1689657 c.424G>A p.G142R Substitution - Missense 1:204160628-204160628 - PT48 COSM5933590 c.623G>T p.G208V Substitution - Missense 17:7353565-7353565 + Br20P COSM39545 c.226G>A p.V76M Substitution - Missense 1:204162036-204162036 - TCGA-DA-A1IA-06 COSM1686379 c.699-1G>A p.? Unknown 1:204156797-204156797 - TCGA-HU-A4G8-01 COSM4069365 c.41C>T p.P14L Substitution - Missense 17:7352983-7352983 + TCGA-AM-5821-01 COSM3750784 c.204A>C p.T68T Substitution - coding silent 1:204162058-204162058 - TCGA-B5-A11E-01 COSM222629 c.320C>T p.S107L Substitution - Missense 1:204161345-204161345 - T2940 COSM4694785 c.431C>T p.A144V Substitution - Missense 17:7353373-7353373 + 587376 COSM1223533 c.430G>T p.E144* Substitution - Nonsense 1:204160622-204160622 - STC291 COSM2214121 c.756C>T p.Y252Y Substitution - coding silent 1:204156739-204156739 - T3088 COSM4721025 c.855C>T p.D285D Substitution - coding silent 1:204156283-204156283 - sysucc-1397T COSM4547317 c.419G>A p.R140Q Substitution - Missense 17:7353361-7353361 + TCGA-CG-4305-01 COSM4027221 c.201G>A p.L67L Substitution - coding silent 1:204162061-204162061 - TCGA-EB-A41A-01 COSM3481951 c.474C>T p.L158L Substitution - coding silent 1:204160578-204160578 - STC246 COSM5055749 c.239A>G p.Q80R Substitution - Missense 17:7353181-7353181 + S02347 COSM5694013 c.174C>T p.P58P Substitution - coding silent 1:204162088-204162088 - 2T COSM3710516 c.142G>A p.E48K Substitution - Missense 1:204162120-204162120 - 587278 COSM1211678 c.15G>A p.M5I Substitution - Missense 17:7352957-7352957 + 5T COSM106386 c.500G>A p.G167E Substitution - Missense 1:204159588-204159588 - PD7274a COSM2214116 c.1101C>T p.H367H Substitution - coding silent 1:204155136-204155136 - Pat_05_A COSM5845196 c.45_47delGCT p.L16delL Deletion - In frame 1:204166247-204166249 - TCGA-32-2495-01 COSM216230 c.304G>A p.V102I Substitution - Missense 1:204161361-204161361 - TCGA-FS-A4FC-06 COSM3481950 c.493-1G>A p.? Unknown 1:204159596-204159596 - TCGA-QB-A6FS-06 COSM3864175 c.777C>T p.I259I Substitution - coding silent 1:204156718-204156718 - SNU-C2B COSM216230 c.304G>A p.V102I Substitution - Missense 1:204161361-204161361 - LOVO COSM2977686 c.683G>A p.R228H Substitution - Missense 17:7353625-7353625 + PD13302a COSM5783426 c.1102G>A p.A368T Substitution - Missense 1:204155135-204155135 - Pat_36_B COSM5845196 c.45_47delGCT p.L16delL Deletion - In frame 1:204166247-204166249 - TCGA-AZ-6598-01 COSM1338053 c.860G>T p.C287F Substitution - Missense 1:204156278-204156278 - TCGA-AP-A051-01 COSM902565 c.545C>T p.A182V Substitution - Missense 1:204159543-204159543 - 18 COSM5015430 c.358G>T p.D120Y Substitution - Missense 17:7353300-7353300 + TCGA-ER-A19N-06 COSM3481944 c.699G>A p.E233E Substitution - coding silent 1:204156796-204156796 - 12924 COSM5613886 c.34C>A p.L12M Substitution - Missense 1:204166260-204166260 - TCGA-EE-A2M5-06 COSM3481954 c.386T>A p.L129H Substitution - Missense 1:204160666-204160666 - TCGA-D1-A17R-01 COSM108396 c.710C>T p.S237L Substitution - Missense 1:204156785-204156785 - ESO-732 COSM1264002 c.880G>A p.G294S Substitution - Missense 1:204156258-204156258 - PTC-77C COSM4130577 c.506T>A p.V169E Substitution - Missense 17:7353448-7353448 + BRC31 COSM5025493 c.911C>T p.S304F Substitution - Missense 1:204156227-204156227 - 0122_CRUK_PC_0122_T1_DNA COSM5423111 c.1202G>T p.G401V Substitution - Missense 1:204155035-204155035 - PTC-70C COSM4130578 c.569T>G p.V190G Substitution - Missense 17:7353511-7353511 + TCGA-FW-A3R5-06 COSM3864174 c.1094C>T p.A365V Substitution - Missense 1:204155143-204155143 - 6115224 COSM5555054 c.761G>C p.G254A Substitution - Missense 1:204156734-204156734 - 587222 COSM1223532 c.32G>A p.G11E Substitution - Missense 1:204166262-204166262 - TCGA-FW-A3R5-06 COSM3864176 c.387C>T p.L129L Substitution - coding silent 1:204160665-204160665 - LS411 COSM1386223 c.100C>T p.R34W Substitution - Missense 17:7353042-7353042 + HCC99T COSM3717585 c.335A>G p.Y112C Substitution - Missense 17:7353277-7353277 + BK0050 COSM4187916 c.364A>T p.T122S Substitution - Missense 1:204161301-204161301 - TCGA-EE-A2MR-06 COSM3481949 c.534G>A p.T178T Substitution - coding silent 1:204159554-204159554 - T3151 COSM3400222 c.442C>T p.R148C Substitution - Missense 1:204160610-204160610 - TCGA-EE-A3AA-06 COSM3481942 c.761G>A p.G254E Substitution - Missense 1:204156734-204156734 - CSCC-38-T COSM4524960 c.12G>A p.W4* Substitution - Nonsense 1:204166282-204166282 - 07-P075 COSM1223531 c.74C>T p.P25L Substitution - Missense 1:204166220-204166220 - TCGA-18-3409-01 COSM707310 c.498C>T p.L166L Substitution - coding silent 17:7353440-7353440 + OSCC-GB_00600111 COSM4890253 c.944A>G p.K315R Substitution - Missense 1:204156194-204156194 - 51T COSM108396 c.710C>T p.S237L Substitution - Missense 1:204156785-204156785 - TP_2034 COSM5565886 c.1184G>A p.R395Q Substitution - Missense 1:204155053-204155053 - AOCS-141-3-2 COSM3943347 c.741C>T p.S247S Substitution - coding silent 1:204156754-204156754 - TCGA-EE-A3AH-06 COSM3481941 c.906C>T p.T302T Substitution - coding silent 1:204156232-204156232 - LUAD-LC15C COSM367871 c.490G>T p.V164L Substitution - Missense 17:7353432-7353432 + ccRCC-18 COSM1666049 c.48_49insA p.N17fs*46 Insertion - Frameshift 17:7352990-7352991 + TCGA-FW-A3R5-06 COSM2214114 c.1206C>T p.F402F Substitution - coding silent 1:204155031-204155031 - SC_9094 COSM5564929 c.604C>T p.R202W Substitution - Missense 17:7353546-7353546 + CSCC-10-T COSM2977684 c.588C>T p.F196F Substitution - coding silent 17:7353530-7353530 + MO_1339 COSM3934404 c.492+1G>A p.? Unknown 1:204160559-204160559 - TCGA-BS-A0UV-01 COSM902562 c.997G>A p.D333N Substitution - Missense 1:204155882-204155882 - YUKRIN COSM1686379 c.699-1G>A p.? Unknown 1:204156797-204156797 - TCGA-13-2057-01 COSM1320564 c.1196G>A p.R399H Substitution - Missense 1:204155041-204155041 - ME009T COSM222629 c.320C>T p.S107L Substitution - Missense 1:204161345-204161345 - 41T COSM3710515 c.492C>T p.T164T Substitution - coding silent 1:204160560-204160560 - TCGA-BR-4361-01 COSM4069366 c.62G>A p.G21D Substitution - Missense 17:7353004-7353004 + TCGA-AG-A002-01 COSM263301 c.99G>A p.R33R Substitution - coding silent 1:204162163-204162163 - TCGA-CA-6717-01 COSM1338054 c.567G>T p.E189D Substitution - Missense 1:204159521-204159521 - TCGA-CZ-5457-01 COSM463791 c.602A>T p.Q201L Substitution - Missense 1:204159486-204159486 - 116T COSM1725431 c.680A>G p.Y227C Substitution - Missense 1:204159408-204159408 - TCGA-EE-A29L-06 COSM3481948 c.642C>T p.I214I Substitution - coding silent 1:204159446-204159446 - CSCC-31-T COSM4571282 c.423T>C p.N141N Substitution - coding silent 1:204160629-204160629 - DLD1 COSM4622386 c.372T>G p.C124W Substitution - Missense 1:204161293-204161293 - OSCC-GB_00020111 COSM3710516 c.142G>A p.E48K Substitution - Missense 1:204162120-204162120 - BN15T COSM1601548 c.565G>A p.E189K Substitution - Missense 1:204159523-204159523 - C086 COSM3710516 c.142G>A p.E48K Substitution - Missense 1:204162120-204162120 - sysucc-1370T COSM5082668 c.1059+9C>T p.? Unknown 1:204155811-204155811 - TCGA-AA-A02W-01 COSM287586 c.967G>A p.V323M Substitution - Missense 1:204155912-204155912 - PCSI_0076_Pa_P COSM216230 c.304G>A p.V102I Substitution - Missense 1:204161361-204161361 - ESO-051 COSM1264000 c.912C>T p.S304S Substitution - coding silent 1:204156226-204156226 - 9T COSM108338 c.594C>T p.F198F Substitution - coding silent 1:204159494-204159494 - SW1417 COSM4655034 c.154G>A p.G52R Substitution - Missense 17:7353096-7353096 + CSCC-4-T COSM4542533 c.31G>A p.G11R Substitution - Missense 1:204166263-204166263 - TCGA-EE-A29E-06 COSM3481952 c.425G>A p.G142E Substitution - Missense 1:204160627-204160627 - OV207 COSM253155 c.52_53insG p.S19fs*14 Insertion - Frameshift 1:204166241-204166242 - CSCC-35-T COSM4547317 c.419G>A p.R140Q Substitution - Missense 17:7353361-7353361 + NCI-H460 COSM1668390 c.521T>C p.F174S Substitution - Missense 1:204159567-204159567 - 1517_CLM COSM5755129 c.221G>A p.R74Q Substitution - Missense 17:7353163-7353163 + TCGA-EE-A3AF-06 COSM3521835 c.499C>T p.P167S Substitution - Missense 17:7353441-7353441 + PTC-7C COSM4143251 c.609T>A p.I203I Substitution - coding silent 1:204159479-204159479 - TCGA-DK-A1AC-01 COSM1303302 c.120G>A p.L40L Substitution - coding silent 17:7353062-7353062 + TCGA-CA-6717-01 COSM1338055 c.391G>A p.D131N Substitution - Missense 1:204160661-204160661 - HCC99 COSM3717585 c.335A>G p.Y112C Substitution - Missense 17:7353277-7353277 + TCGA-ER-A3PL-06 COSM3521832 c.292C>T p.P98S Substitution - Missense 17:7353234-7353234 + PTC-28C COSM4130576 c.166C>G p.L56V Substitution - Missense 17:7353108-7353108 + TCGA-D9-A6EC-06 COSM4400741 c.377T>G p.L126R Substitution - Missense 17:7353319-7353319 + ccRCC-18 COSM1666008 c.50_51insA p.N17fs*46 Insertion - Frameshift 17:7352992-7352993 + TCGA-FD-A3N5-01 COSM1295733 c.1213G>A p.A405T Substitution - Missense 1:204155024-204155024 - TCGA-DK-A3WW-01 COSM3796043 c.666C>G p.L222L Substitution - coding silent 17:7353608-7353608 + C135 COSM4617269 c.611G>A p.G204D Substitution - Missense 1:204159477-204159477 - PCSI_0076_Pa_X COSM216230 c.304G>A p.V102I Substitution - Missense 1:204161361-204161361 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.3210 1q32 179820 Hs.592112 17p13.1 609848

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AC CT Missense p.Y51S c.152_153delinsCT 17 7256413 CM C G Missense p.H111D c.331C>G 17 7256592 BLCA C T Missense p.P167L c.500C>T 17 7256761 CM C T Missense p.P167S c.499C>T 17 7256760 CM C T Synonymous p.N15N c.45C>T 17 7256306 CM G A Missense p.E150K c.448G>A 17 7256709 CM G A Missense p.V191M c.571G>A 17 7256832 CM G C Missense p.D212H c.634G>C 17 7256895 HNSC T G Missense p.V190G c.569T>G 17 7256830 HNSC AGC - InFrameDeletion p.L16delL c.45_47delGCT 1 204135375 GBM AGC - InFrameDeletion p.L16delL c.45_47delGCT 1 204135375 LGG A G Missense p.L338P c.1013T>C 1 204124994 HNSC A T Missense p.L129H c.386T>A 1 204129794 CM C A Missense p.L312F c.936G>T 1 204125330 GBM C A SpliceDonorSNV . c.1059+1G>T 1 204124947 HNSC C A Synonymous p.R395R c.1185G>T 1 204124180 LUAD CC TT MultiAAMissense p.W10_G11delins* c.30_31delinsAA 1 204135391 CM C G Missense p.E221Q c.661G>C 1 204128555 HNSC C G Synonymous p.S133S c.399G>C 1 204129781 CM C T Missense p.A405T c.1213G>A 1 204124152 BLCA C T Missense p.D349N c.1045G>A 1 204124962 CM C T Missense p.G142R c.424G>A 1 204129756 CM C T Missense p.G239E c.716G>A 1 204125907 CM C T Missense p.G245E c.734G>A 1 204125889 LUAD C T Missense p.G254E c.761G>A 1 204125862 CM C T Missense p.G294S c.880G>A 1 204125386 ESCA C T Missense p.G294S c.880G>A 1 204125386 STAD C T Missense p.R148H c.443G>A 1 204129737 BRCA C T Missense p.R43Q c.128G>A 1 204131262 CM C T Missense p.V102I c.304G>A 1 204130489 GBM C T Missense p.V102I c.304G>A 1 204130489 PAAD C T Missense p.V323M c.967G>A 1 204125040 COREAD C T SpliceAcceptorSNV . c.699-1G>A 1 204125925 CM C T Synonymous p.E233E c.699G>A 1 204125924 CM C T Synonymous p.G254G c.762G>A 1 204125861 CM C T Synonymous p.K316K c.948G>A 1 204125318 HC C T Synonymous p.L67L c.201G>A 1 204131189 STAD G A Missense p.R148C c.442C>T 1 204129738 GBM G A Missense p.R9C c.25C>T 1 204135397 BLCA G A Missense p.S107L c.320C>T 1 204130473 CM G A Missense p.S237L c.710C>T 1 204125913 UCEC G A Missense p.S304F c.911C>T 1 204125355 BRCA G A Missense p.V76M c.226G>A 1 204131164 GBM G A Synonymous p.A188A c.564C>T 1 204128652 LUAD G A Synonymous p.I214I c.642C>T 1 204128574 CM G A Synonymous p.I92I c.276C>T 1 204130517 HNSC G A Synonymous p.N229N c.687C>T 1 204128529 LUAD G A Synonymous p.S235S c.705C>T 1 204125918 ESCA G A Synonymous p.S304S c.912C>T 1 204125354 ESCA G A Synonymous p.T302T c.906C>T 1 204125360 CM G C Synonymous p.T164T c.492C>G 1 204129688 BLCA G T Missense p.L12M c.34C>A 1 204135388 NSCLC G T Missense p.P377H c.1130C>A 1 204124235 COREAD G T Synonymous p.R49R c.145C>A 1 204131245 HNSC T A Missense p.Q201L c.602A>T 1 204128614 RCCC T C Missense p.I168V c.502A>G 1 204128714 STAD