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 24 6911149 6911149 + Missense_Mutation SNP G G C TCGA-CF-A3MI-01A-11D-A20D-08 TCGA-CF-A3MI-10A-01D-A20D-08 g.chrY:6911149G>C c.187G>C c.(187-189)Gag>Cag p.E63Q BLCA 24 6942600 6942600 + Splice_Site SNP G G A TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chrY:6942600G>A c.e13-1 BLCA 24 6954349 6954349 + Missense_Mutation SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chrY:6954349G>A c.1171G>A c.(1171-1173)Gat>Aat p.D391N COAD 24 6938319 6938319 + Silent SNP T T A TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chrY:6938319T>A c.540T>A c.(538-540)tcT>tcA p.S180S COAD 24 6954357 6954357 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrY:6954357C>T c.1179C>T c.(1177-1179)tgC>tgT p.C393C COAD 24 6958128 6958128 + Splice_Site SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrY:6958128A>G c.e18-1 COADREAD 24 6938319 6938319 + Silent SNP T T A TCGA-AA-3666-01A-02W-0900-09 TCGA-AA-3666-10A-01W-0900-09 g.chrY:6938319T>A c.540T>A c.(538-540)tcT>tcA p.S180S COADREAD 24 6942631 6942631 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:6942631G>T c.925G>T c.(925-927)Gaa>Taa p.E309* COADREAD 24 6954357 6954357 + Silent SNP C C T TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chrY:6954357C>T c.1179C>T c.(1177-1179)tgC>tgT p.C393C COADREAD 24 6958128 6958128 + Splice_Site SNP A A G TCGA-A6-6653-01A-11D-1771-10 TCGA-A6-6653-10A-01D-1771-10 g.chrY:6958128A>G c.e18-1 ESCA 24 6939642 6939642 + Silent SNP C C T TCGA-L5-A4OO-01A-11D-A27G-09 TCGA-L5-A4OO-11A-12D-A27G-09 g.chrY:6939642C>T c.774C>T c.(772-774)ttC>ttT p.F258F GBMLGG 24 6911098 6911098 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chrY:6911098C>T c.136C>T c.(136-138)Ccg>Tcg p.P46S HNSC 24 6911085 6911085 + Silent SNP G G T TCGA-CV-A464-01A-11D-A25Y-08 TCGA-CV-A464-10A-01D-A25Y-08 g.chrY:6911085G>T c.123G>T c.(121-123)ggG>ggT p.G41G HNSC 24 6938313 6938313 + Silent SNP C C T TCGA-QK-A6V9-01A-11D-A34J-08 TCGA-QK-A6V9-10B-01D-A34M-08 g.chrY:6938313C>T c.534C>T c.(532-534)caC>caT p.H178H HNSC 24 6939823 6939823 + Silent SNP G G A TCGA-CN-A63Y-01A-11D-A30E-08 TCGA-CN-A63Y-10A-01D-A30H-08 g.chrY:6939823G>A c.846G>A c.(844-846)ctG>ctA p.L282L HNSC 24 6948772 6948773 + Splice_Site INS - - C TCGA-CV-7418-01A-11D-2078-08 TCGA-CV-7418-10A-01D-2078-08 g.chrY:6948772_6948773insC c.e14-1 HNSC 24 6955318 6955318 + Missense_Mutation SNP G G C TCGA-H7-8501-01A-11D-2394-08 TCGA-H7-8501-10A-01D-2394-08 g.chrY:6955318G>C c.1291G>C c.(1291-1293)Gat>Cat p.D431H HNSC 24 6958154 6958154 + Missense_Mutation SNP C C A TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chrY:6958154C>A c.1471C>A c.(1471-1473)Caa>Aaa p.Q491K LGG 24 6911098 6911098 + Missense_Mutation SNP C C T TCGA-FG-A4MW-01A-11D-A26M-08 TCGA-FG-A4MW-10A-01D-A26K-08 g.chrY:6911098C>T c.136C>T c.(136-138)Ccg>Tcg p.P46S LIHC 24 6938816 6938816 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chrY:6938816T>C c.646T>C c.(646-648)Tcc>Ccc p.S216P LIHC 24 6939610 6939610 + Missense_Mutation SNP A A C TCGA-CC-A7IL-01A-11D-A33Q-10 TCGA-CC-A7IL-10A-01D-A33Q-10 g.chrY:6939610A>C c.742A>C c.(742-744)Aca>Cca p.T248P LUAD 24 6954409 6954409 + Missense_Mutation SNP C C T TCGA-78-7166-01A-12D-2063-08 TCGA-78-7166-11A-01D-2063-08 g.chrY:6954409C>T c.1231C>T c.(1231-1233)Ccc>Tcc p.P411S LUAD 24 6955407 6955407 + Silent SNP C C T TCGA-44-A4SS-01A-11D-A24P-08 TCGA-44-A4SS-10A-01D-A24P-08 g.chrY:6955407C>T c.1380C>T c.(1378-1380)ttC>ttT p.F460F LUAD 24 6955419 6955419 + Silent SNP A A G TCGA-95-7944-01A-11D-2184-08 TCGA-95-7944-10A-01D-2184-08 g.chrY:6955419A>G c.1392A>G c.(1390-1392)ggA>ggG p.G464G LUSC 24 6893165 6893165 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chrY:6893165C>T c.40C>T c.(40-42)Cgg>Tgg p.R14W LUSC 24 6938804 6938804 + Missense_Mutation SNP A A T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chrY:6938804A>T c.634A>T c.(634-636)Agc>Tgc p.S212C READ 24 6942631 6942631 + Nonsense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrY:6942631G>T c.925G>T c.(925-927)Gaa>Taa p.E309* SKCM 24 6932064 6932064 + Missense_Mutation SNP G G A TCGA-EE-A3JE-06A-11D-A20D-08 TCGA-EE-A3JE-10A-01D-A20D-08 g.chrY:6932064G>A c.331G>A c.(331-333)Gca>Aca p.A111T SKCM 24 6932137 6932137 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrY:6932137C>T c.404C>T c.(403-405)cCa>cTa p.P135L SKCM 24 6938851 6938851 + Missense_Mutation SNP A A C TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chrY:6938851A>C c.681A>C c.(679-681)gaA>gaC p.E227D SKCM 24 6939829 6939829 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrY:6939829G>A c.852G>A c.(850-852)tgG>tgA p.W284* SKCM 24 6942649 6942649 + Missense_Mutation SNP C C T TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chrY:6942649C>T c.943C>T c.(943-945)Cct>Tct p.P315S SKCM 24 6948775 6948775 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrY:6948775C>T c.958C>T c.(958-960)Ccc>Tcc p.P320S SKCM 24 6948886 6948886 + Missense_Mutation SNP G G A TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chrY:6948886G>A c.1069G>A c.(1069-1071)Gga>Aga p.G357R SKCM 24 6954416 6954416 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrY:6954416G>A c.1238G>A c.(1237-1239)gGg>gAg p.G413E SKCM 24 6955439 6955439 + Missense_Mutation SNP C C T TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chrY:6955439C>T c.1412C>T c.(1411-1413)tCc>tTc p.S471F

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 Y 6911149 6911149 single base substitution G C missense_variant E63Q 187G>C BLCA-US Y 6954349 6954349 single base substitution G A missense_variant D391N 1171G>A BTCA-JP Y 6938309 6938309 single base substitution G A missense_variant G177D 530G>A CLLE-ES Y 6794696 6794696 single base substitution C A intron_variant CLLE-ES Y 6795993 6795993 single base substitution A G intron_variant CLLE-ES Y 6799147 6799147 single base substitution C T intron_variant CLLE-ES Y 6871076 6871076 single base substitution C T intron_variant CLLE-ES Y 6947754 6947754 single base substitution G T intron_variant COAD-US Y 6958128 6958128 single base substitution A G splice_acceptor_variant EOPC-DE Y 6788811 6788811 single base substitution A T intron_variant LGG-US Y 6911098 6911098 single base substitution C T missense_variant P46S 136C>T LICA-FR Y 6806637 6806637 single base substitution G A intron_variant LICA-FR Y 6863252 6863252 single base substitution C T intron_variant LICA-FR Y 6883954 6883954 single base substitution T A intron_variant LICA-FR Y 6884320 6884320 single base substitution G A intron_variant LICA-FR Y 6915791 6915791 single base substitution G T intron_variant LIHC-US Y 6939610 6939610 single base substitution A C missense_variant T248P 742A>C LINC-JP Y 6776085 6776085 single base substitution A G upstream_gene_variant LINC-JP Y 6804055 6804055 single base substitution C A intron_variant LINC-JP Y 6815449 6815449 single base substitution T A intron_variant LINC-JP Y 6822180 6822180 single base substitution G A intron_variant LINC-JP Y 6826204 6826204 single base substitution A G intron_variant LINC-JP Y 6860725 6860725 single base substitution T C intron_variant LINC-JP Y 6888159 6888159 single base substitution A T intron_variant LINC-JP Y 6895457 6895457 single base substitution G A intron_variant LINC-JP Y 6895981 6895981 single base substitution C A intron_variant LINC-JP Y 6909761 6909772 deletion of <=200bp TTAGGAAACTCC - intron_variant LINC-JP Y 6929864 6929864 single base substitution G T intron_variant LINC-JP Y 6938652 6938652 single base substitution G C intron_variant LINC-JP Y 6959511 6959511 single base substitution A T splice_acceptor_variant LIRI-JP Y 6777127 6777127 single base substitution T A upstream_gene_variant LIRI-JP Y 6781509 6781509 single base substitution T G intron_variant LIRI-JP Y 6789582 6789582 single base substitution T C intron_variant LIRI-JP Y 6789655 6789655 single base substitution A G intron_variant LIRI-JP Y 6794998 6794998 single base substitution A T intron_variant LIRI-JP Y 6805215 6805215 single base substitution T C intron_variant LIRI-JP Y 6805714 6805714 single base substitution T C intron_variant LIRI-JP Y 6806143 6806143 single base substitution G A intron_variant LIRI-JP Y 6810549 6810549 single base substitution C G intron_variant LIRI-JP Y 6812765 6812765 single base substitution G A intron_variant LIRI-JP Y 6812766 6812766 single base substitution C A intron_variant LIRI-JP Y 6814044 6814055 deletion of <=200bp TTTGATCCTGCA - intron_variant LIRI-JP Y 6818555 6818555 single base substitution T C intron_variant LIRI-JP Y 6828097 6828097 single base substitution A T intron_variant LIRI-JP Y 6834429 6834429 single base substitution T C intron_variant LIRI-JP Y 6844052 6844052 single base substitution C T intron_variant LIRI-JP Y 6844510 6844510 single base substitution A G intron_variant LIRI-JP Y 6858359 6858359 single base substitution A G intron_variant LIRI-JP Y 6866281 6866281 single base substitution G T intron_variant LIRI-JP Y 6872630 6872630 single base substitution C T intron_variant LIRI-JP Y 6876229 6876229 single base substitution A G intron_variant LIRI-JP Y 6883256 6883256 single base substitution G T intron_variant LIRI-JP Y 6887605 6887605 single base substitution A T intron_variant LIRI-JP Y 6892593 6892593 single base substitution A C intron_variant LIRI-JP Y 6893875 6893875 single base substitution G A intron_variant LIRI-JP Y 6899873 6899873 single base substitution T G intron_variant LIRI-JP Y 6903172 6903172 single base substitution A G intron_variant LIRI-JP Y 6917371 6917371 single base substitution G A intron_variant LIRI-JP Y 6931085 6931085 single base substitution A C intron_variant LIRI-JP Y 6945765 6945765 single base substitution G T intron_variant LIRI-JP Y 6951261 6951261 single base substitution C T intron_variant LIRI-JP Y 6953862 6953862 single base substitution T C intron_variant LUSC-KR Y 6774816 6774816 single base substitution G T upstream_gene_variant LUSC-KR Y 6800940 6800940 single base substitution A C intron_variant LUSC-KR Y 6806813 6806813 single base substitution G A intron_variant LUSC-KR Y 6807339 6807339 single base substitution G T intron_variant LUSC-KR Y 6811922 6811922 single base substitution A T intron_variant LUSC-KR Y 6817673 6817673 single base substitution A G intron_variant LUSC-KR Y 6818858 6818858 single base substitution G T intron_variant LUSC-KR Y 6820208 6820208 single base substitution A G intron_variant LUSC-KR Y 6821999 6821999 single base substitution G T intron_variant LUSC-KR Y 6832677 6832677 single base substitution G A intron_variant LUSC-KR Y 6835830 6835830 single base substitution C T intron_variant LUSC-KR Y 6836198 6836198 single base substitution C G intron_variant LUSC-KR Y 6836240 6836240 single base substitution C G intron_variant LUSC-KR Y 6838329 6838329 single base substitution T C intron_variant LUSC-KR Y 6841612 6841612 single base substitution A G intron_variant LUSC-KR Y 6843116 6843116 single base substitution G T intron_variant LUSC-KR Y 6854064 6854064 single base substitution G A intron_variant LUSC-KR Y 6858369 6858369 single base substitution G A intron_variant LUSC-KR Y 6872279 6872279 single base substitution G A intron_variant LUSC-KR Y 6880364 6880364 single base substitution G T intron_variant LUSC-KR Y 6884168 6884168 single base substitution G T intron_variant LUSC-KR Y 6890006 6890006 single base substitution G T intron_variant LUSC-KR Y 6893335 6893335 single base substitution G A intron_variant LUSC-KR Y 6896765 6896765 single base substitution G T intron_variant LUSC-KR Y 6911989 6911989 single base substitution G C intron_variant LUSC-KR Y 6924460 6924460 single base substitution G T intron_variant LUSC-KR Y 6935251 6935251 single base substitution T C intron_variant LUSC-KR Y 6947697 6947697 single base substitution G T intron_variant LUSC-KR Y 6948410 6948410 single base substitution G A intron_variant LUSC-KR Y 6949766 6949766 single base substitution G T intron_variant LUSC-KR Y 6951854 6951854 single base substitution C A intron_variant LUSC-KR Y 6952375 6952375 single base substitution G T intron_variant LUSC-KR Y 6953583 6953583 single base substitution C T intron_variant LUSC-KR Y 6954284 6954284 single base substitution G T intron_variant LUSC-US Y 6893165 6893165 single base substitution C T missense_variant R14W 40C>T LUSC-US Y 6938804 6938804 single base substitution A T missense_variant S212C 634A>T MALY-DE Y 6782967 6782967 single base substitution G T intron_variant MALY-DE Y 6855007 6855007 single base substitution A C intron_variant MALY-DE Y 6881975 6881975 single base substitution A C intron_variant MALY-DE Y 6926148 6926148 single base substitution T G intron_variant MALY-DE Y 6928232 6928232 single base substitution T G intron_variant MALY-DE Y 6933857 6933857 single base substitution C G intron_variant MALY-DE Y 6941485 6941486 deletion of <=200bp TC - intron_variant MELA-AU Y 6774300 6774300 single base substitution G A upstream_gene_variant MELA-AU Y 6774745 6774745 single base substitution C T upstream_gene_variant MELA-AU Y 6776072 6776072 single base substitution G A upstream_gene_variant MELA-AU Y 6776420 6776420 single base substitution C T upstream_gene_variant MELA-AU Y 6782672 6782672 single base substitution T C intron_variant MELA-AU Y 6784806 6784806 single base substitution G A intron_variant MELA-AU Y 6785558 6785558 single base substitution T A intron_variant MELA-AU Y 6789562 6789562 single base substitution G A intron_variant MELA-AU Y 6789876 6789876 single base substitution G A intron_variant MELA-AU Y 6789967 6789967 single base substitution C T intron_variant MELA-AU Y 6790408 6790408 single base substitution C T intron_variant MELA-AU Y 6790696 6790696 single base substitution T C intron_variant MELA-AU Y 6791550 6791550 single base substitution T C intron_variant MELA-AU Y 6792105 6792105 single base substitution C T intron_variant MELA-AU Y 6792322 6792322 single base substitution C T intron_variant MELA-AU Y 6795357 6795357 single base substitution C T intron_variant MELA-AU Y 6797035 6797035 single base substitution G A intron_variant MELA-AU Y 6797358 6797358 single base substitution C T intron_variant MELA-AU Y 6797623 6797623 single base substitution G T intron_variant MELA-AU Y 6800072 6800072 single base substitution C T intron_variant MELA-AU Y 6800549 6800549 single base substitution C T intron_variant MELA-AU Y 6803577 6803577 single base substitution G A intron_variant MELA-AU Y 6803626 6803626 single base substitution T C intron_variant MELA-AU Y 6804080 6804080 single base substitution C T intron_variant MELA-AU Y 6804397 6804397 single base substitution C T intron_variant MELA-AU Y 6804968 6804968 single base substitution T G intron_variant MELA-AU Y 6805265 6805265 single base substitution C T intron_variant MELA-AU Y 6806177 6806177 single base substitution G A intron_variant MELA-AU Y 6809510 6809510 single base substitution G A intron_variant MELA-AU Y 6811532 6811532 single base substitution C T intron_variant MELA-AU Y 6813021 6813021 single base substitution C T intron_variant MELA-AU Y 6814330 6814330 single base substitution G A intron_variant MELA-AU Y 6815715 6815715 single base substitution G A intron_variant MELA-AU Y 6816917 6816917 single base substitution T C intron_variant MELA-AU Y 6817583 6817583 single base substitution G C intron_variant MELA-AU Y 6818256 6818256 single base substitution A G intron_variant MELA-AU Y 6819714 6819714 single base substitution C T intron_variant MELA-AU Y 6820542 6820542 single base substitution C T intron_variant MELA-AU Y 6821405 6821405 single base substitution G A intron_variant MELA-AU Y 6821434 6821434 single base substitution C T intron_variant MELA-AU Y 6822189 6822189 single base substitution C T intron_variant MELA-AU Y 6827256 6827256 single base substitution C T intron_variant MELA-AU Y 6828417 6828417 single base substitution C T intron_variant MELA-AU Y 6829225 6829225 single base substitution C G intron_variant MELA-AU Y 6829392 6829392 single base substitution G A intron_variant MELA-AU Y 6829946 6829946 single base substitution C T intron_variant MELA-AU Y 6832677 6832677 single base substitution G A intron_variant MELA-AU Y 6833762 6833762 single base substitution A G intron_variant MELA-AU Y 6834220 6834220 single base substitution C T intron_variant MELA-AU Y 6835030 6835030 single base substitution G A intron_variant MELA-AU Y 6835460 6835460 single base substitution C T intron_variant MELA-AU Y 6836332 6836333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU Y 6836343 6836343 single base substitution G A intron_variant MELA-AU Y 6837908 6837908 single base substitution T A intron_variant MELA-AU Y 6841863 6841863 single base substitution T C intron_variant MELA-AU Y 6843528 6843528 single base substitution C T intron_variant MELA-AU Y 6844154 6844154 single base substitution A G intron_variant MELA-AU Y 6844885 6844885 single base substitution C T intron_variant MELA-AU Y 6845339 6845339 single base substitution C T intron_variant MELA-AU Y 6845580 6845580 single base substitution G A intron_variant MELA-AU Y 6850372 6850372 single base substitution C T intron_variant MELA-AU Y 6850379 6850379 single base substitution C A intron_variant MELA-AU Y 6851073 6851073 single base substitution C T intron_variant MELA-AU Y 6852579 6852580 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU Y 6855134 6855134 single base substitution T A intron_variant MELA-AU Y 6855761 6855761 single base substitution C T intron_variant MELA-AU Y 6856064 6856064 single base substitution G A intron_variant MELA-AU Y 6856079 6856079 single base substitution G A intron_variant MELA-AU Y 6865966 6865966 single base substitution C T intron_variant MELA-AU Y 6866764 6866764 single base substitution C G intron_variant MELA-AU Y 6867056 6867056 single base substitution C T intron_variant MELA-AU Y 6870055 6870055 single base substitution C T intron_variant MELA-AU Y 6870093 6870093 single base substitution G A intron_variant MELA-AU Y 6870569 6870569 single base substitution G T intron_variant MELA-AU Y 6872249 6872249 single base substitution G A intron_variant MELA-AU Y 6873910 6873910 single base substitution C T intron_variant MELA-AU Y 6873988 6873988 single base substitution T A intron_variant MELA-AU Y 6874938 6874938 single base substitution G A intron_variant MELA-AU Y 6875260 6875260 single base substitution C T intron_variant MELA-AU Y 6877504 6877504 single base substitution T A intron_variant MELA-AU Y 6878120 6878120 single base substitution A T intron_variant MELA-AU Y 6879399 6879399 single base substitution C T intron_variant MELA-AU Y 6881752 6881752 single base substitution C T intron_variant MELA-AU Y 6885522 6885522 single base substitution C T intron_variant MELA-AU Y 6885587 6885587 single base substitution G A intron_variant MELA-AU Y 6886035 6886035 single base substitution G A intron_variant MELA-AU Y 6886791 6886791 single base substitution C T intron_variant MELA-AU Y 6889253 6889253 single base substitution G A intron_variant MELA-AU Y 6891655 6891655 single base substitution A G intron_variant MELA-AU Y 6893479 6893479 single base substitution G A intron_variant MELA-AU Y 6894747 6894747 single base substitution C T intron_variant MELA-AU Y 6895052 6895052 single base substitution C T intron_variant MELA-AU Y 6895406 6895406 single base substitution C T intron_variant MELA-AU Y 6901854 6901855 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU Y 6902852 6902852 single base substitution T G intron_variant MELA-AU Y 6904053 6904053 single base substitution A G intron_variant MELA-AU Y 6905263 6905263 single base substitution C T intron_variant MELA-AU Y 6905772 6905772 single base substitution T C intron_variant MELA-AU Y 6906720 6906720 single base substitution C T intron_variant MELA-AU Y 6906723 6906723 single base substitution C T intron_variant MELA-AU Y 6908976 6908976 single base substitution T C intron_variant MELA-AU Y 6909860 6909860 single base substitution T C intron_variant MELA-AU Y 6910524 6910524 single base substitution C T intron_variant MELA-AU Y 6910665 6910665 single base substitution C T intron_variant MELA-AU Y 6910973 6910973 single base substitution C T intron_variant MELA-AU Y 6913499 6913499 single base substitution C T intron_variant MELA-AU Y 6914808 6914808 single base substitution C T intron_variant MELA-AU Y 6914904 6914904 single base substitution G A intron_variant MELA-AU Y 6915487 6915488 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU Y 6917888 6917888 deletion of <=200bp A - intron_variant MELA-AU Y 6919871 6919871 single base substitution C T intron_variant MELA-AU Y 6925060 6925060 single base substitution A C intron_variant MELA-AU Y 6926172 6926172 single base substitution G A intron_variant MELA-AU Y 6929897 6929897 single base substitution C T intron_variant MELA-AU Y 6930284 6930284 single base substitution C T intron_variant MELA-AU Y 6930850 6930850 single base substitution C T intron_variant MELA-AU Y 6930990 6930990 single base substitution C T intron_variant MELA-AU Y 6931532 6931532 single base substitution G A intron_variant MELA-AU Y 6931850 6931850 single base substitution C T intron_variant MELA-AU Y 6932252 6932252 single base substitution C T intron_variant MELA-AU Y 6933591 6933591 single base substitution G A intron_variant MELA-AU Y 6933623 6933623 single base substitution C T intron_variant MELA-AU Y 6934233 6934233 single base substitution C T intron_variant MELA-AU Y 6934834 6934834 single base substitution G A intron_variant MELA-AU Y 6935218 6935218 single base substitution C T intron_variant MELA-AU Y 6935382 6935382 single base substitution C T intron_variant MELA-AU Y 6935638 6935638 single base substitution G A intron_variant MELA-AU Y 6935647 6935647 single base substitution G A intron_variant MELA-AU Y 6936477 6936477 single base substitution G A intron_variant MELA-AU Y 6936659 6936660 multiple base substitution (>=2bp and <=200bp) CT TG intron_variant MELA-AU Y 6936950 6936950 single base substitution G A intron_variant MELA-AU Y 6940397 6940397 single base substitution C T intron_variant MELA-AU Y 6941112 6941112 single base substitution C T intron_variant MELA-AU Y 6941397 6941397 single base substitution C T intron_variant MELA-AU Y 6942585 6942585 single base substitution T C intron_variant MELA-AU Y 6947788 6947788 single base substitution G A intron_variant MELA-AU Y 6948448 6948448 single base substitution G A intron_variant MELA-AU Y 6950214 6950214 single base substitution G A intron_variant MELA-AU Y 6950291 6950291 single base substitution C T intron_variant MELA-AU Y 6952367 6952367 single base substitution G T intron_variant MELA-AU Y 6953513 6953513 single base substitution C T intron_variant MELA-AU Y 6954656 6954656 single base substitution C T intron_variant MELA-AU Y 6956361 6956361 single base substitution C T intron_variant MELA-AU Y 6956735 6956735 single base substitution C T intron_variant MELA-AU Y 6957660 6957660 single base substitution C T intron_variant MELA-AU Y 6957882 6957882 single base substitution C T intron_variant MELA-AU Y 6958486 6958486 single base substitution C T intron_variant MELA-AU Y 6958953 6958953 single base substitution C T intron_variant MELA-AU Y 6959068 6959068 single base substitution G A intron_variant MELA-AU Y 6961147 6961147 single base substitution G A downstream_gene_variant MELA-AU Y 6963518 6963518 single base substitution C T downstream_gene_variant MELA-AU Y 6963683 6963683 single base substitution T A downstream_gene_variant MELA-AU Y 6963953 6963953 single base substitution T C downstream_gene_variant MELA-AU Y 6964147 6964147 single base substitution C T downstream_gene_variant ORCA-IN Y 6938334 6938334 deletion of <=200bp T - frameshift_variant C185 PACA-AU Y 6784252 6784252 single base substitution C T intron_variant PACA-AU Y 6793651 6793651 single base substitution G A intron_variant PACA-AU Y 6799278 6799278 single base substitution A G intron_variant PACA-AU Y 6804974 6804974 single base substitution T C intron_variant PACA-AU Y 6806515 6806515 single base substitution C T intron_variant PACA-AU Y 6841349 6841349 single base substitution C G intron_variant PACA-AU Y 6842294 6842294 single base substitution A T intron_variant PACA-AU Y 6849093 6849093 single base substitution G T intron_variant PACA-AU Y 6854753 6854753 single base substitution T C intron_variant PACA-AU Y 6856707 6856707 insertion of <=200bp - ATAA intron_variant PACA-AU Y 6868825 6868825 single base substitution G C intron_variant PACA-AU Y 6879629 6879629 single base substitution A T intron_variant PACA-AU Y 6894083 6894083 single base substitution C A intron_variant PACA-AU Y 6896029 6896029 single base substitution T C intron_variant PACA-AU Y 6930897 6930897 single base substitution G A intron_variant PACA-AU Y 6940140 6940140 single base substitution T C intron_variant PACA-AU Y 6941278 6941278 single base substitution A C intron_variant PACA-AU Y 6946898 6946898 single base substitution G A intron_variant PACA-AU Y 6947283 6947283 single base substitution T A intron_variant PACA-AU Y 6954939 6954940 deletion of <=200bp AT - intron_variant PACA-CA Y 6775893 6775893 single base substitution C A upstream_gene_variant PACA-CA Y 6783007 6783018 deletion of <=200bp TGAGTCCCTCAC - intron_variant PACA-CA Y 6784777 6784777 single base substitution A T intron_variant PACA-CA Y 6787125 6787125 single base substitution C T intron_variant PACA-CA Y 6789450 6789450 single base substitution G A intron_variant PACA-CA Y 6798751 6798751 single base substitution A T intron_variant PACA-CA Y 6799023 6799023 single base substitution C T intron_variant PACA-CA Y 6811982 6811982 single base substitution A T intron_variant PACA-CA Y 6815544 6815544 single base substitution T A intron_variant PACA-CA Y 6816741 6816741 single base substitution G A intron_variant PACA-CA Y 6837358 6837358 single base substitution C G intron_variant PACA-CA Y 6837861 6837861 single base substitution T A intron_variant PACA-CA Y 6839529 6839529 single base substitution C G intron_variant PACA-CA Y 6844298 6844298 single base substitution G A intron_variant PACA-CA Y 6845354 6845354 single base substitution A T intron_variant PACA-CA Y 6845945 6845945 single base substitution G A intron_variant PACA-CA Y 6847194 6847194 single base substitution T G intron_variant PACA-CA Y 6850338 6850338 single base substitution A T intron_variant PACA-CA Y 6866939 6866939 single base substitution A G intron_variant PACA-CA Y 6874530 6874530 single base substitution C T intron_variant PACA-CA Y 6888045 6888045 single base substitution G A intron_variant PACA-CA Y 6890440 6890440 single base substitution G T intron_variant PACA-CA Y 6890476 6890476 single base substitution G T intron_variant PACA-CA Y 6897734 6897734 single base substitution T G intron_variant PACA-CA Y 6902412 6902412 single base substitution G A intron_variant PACA-CA Y 6940736 6940736 single base substitution C T intron_variant PACA-CA Y 6955519 6955519 single base substitution A C intron_variant PACA-CA Y 6959435 6959435 single base substitution G A intron_variant PAEN-IT Y 6822587 6822587 single base substitution G A intron_variant PAEN-IT Y 6886913 6886913 single base substitution T C intron_variant PAEN-IT Y 6909636 6909636 single base substitution G T intron_variant PBCA-DE Y 6775066 6775066 single base substitution G A upstream_gene_variant PBCA-DE Y 6776480 6776480 single base substitution A G upstream_gene_variant PBCA-DE Y 6782666 6782667 deletion of <=200bp GA - intron_variant PBCA-DE Y 6793399 6793399 single base substitution C T intron_variant PBCA-DE Y 6803774 6803774 single base substitution C A intron_variant PBCA-DE Y 6807982 6807982 deletion of <=200bp T - intron_variant PBCA-DE Y 6817507 6817507 single base substitution C A intron_variant PBCA-DE Y 6839394 6839394 single base substitution G C intron_variant PBCA-DE Y 6840570 6840570 single base substitution T A intron_variant PBCA-DE Y 6843944 6843945 deletion of <=200bp GT - intron_variant PBCA-DE Y 6863358 6863358 deletion of <=200bp A - intron_variant PBCA-DE Y 6876647 6876647 single base substitution C T intron_variant PBCA-DE Y 6892889 6892889 insertion of <=200bp - T intron_variant PBCA-DE Y 6908770 6908770 single base substitution C A intron_variant PBCA-DE Y 6931395 6931395 single base substitution C T intron_variant PBCA-DE Y 6932958 6932958 single base substitution G T intron_variant PBCA-DE Y 6948260 6948260 single base substitution C T intron_variant PBCA-DE Y 6961475 6961476 deletion of <=200bp AT - downstream_gene_variant PRAD-CA Y 6777695 6777695 single base substitution G A upstream_gene_variant PRAD-CA Y 6779986 6779986 single base substitution A G intron_variant PRAD-CA Y 6801408 6801408 single base substitution C A intron_variant PRAD-CA Y 6895593 6895593 single base substitution C T intron_variant PRAD-CA Y 6910591 6910591 single base substitution G A intron_variant PRAD-CA Y 6920977 6920977 single base substitution T G intron_variant PRAD-CA Y 6939896 6939896 single base substitution C A intron_variant PRAD-CA Y 6940835 6940835 single base substitution C G intron_variant PRAD-UK Y 6786911 6786911 single base substitution A T intron_variant PRAD-UK Y 6790104 6790104 single base substitution G T intron_variant PRAD-UK Y 6793664 6793664 single base substitution G A intron_variant PRAD-UK Y 6820518 6820521 deletion of <=200bp TATC - intron_variant PRAD-UK Y 6827083 6827083 single base substitution A C intron_variant PRAD-UK Y 6847893 6847893 single base substitution A G intron_variant PRAD-UK Y 6872878 6872878 single base substitution A C intron_variant PRAD-UK Y 6876595 6876595 single base substitution G T intron_variant PRAD-UK Y 6886974 6886974 single base substitution A G intron_variant PRAD-UK Y 6893230 6893230 single base substitution T A intron_variant PRAD-UK Y 6946562 6946562 single base substitution G T intron_variant READ-US Y 6911055 6911055 single base substitution G T missense_variant E31D 93G>T RECA-EU Y 6778932 6778932 single base substitution G A 5_prime_UTR_variant RECA-EU Y 6781309 6781309 single base substitution G C intron_variant RECA-EU Y 6809604 6809604 single base substitution A G intron_variant RECA-EU Y 6871822 6871822 single base substitution T G intron_variant SKCA-BR Y 6818666 6818666 single base substitution T G intron_variant SKCA-BR Y 6842268 6842268 single base substitution G A intron_variant SKCA-BR Y 6844736 6844736 single base substitution G A intron_variant SKCA-BR Y 6890181 6890181 single base substitution C T intron_variant SKCA-BR Y 6891059 6891059 single base substitution G A intron_variant SKCA-BR Y 6894366 6894366 single base substitution T A intron_variant SKCA-BR Y 6901595 6901595 single base substitution C T intron_variant SKCA-BR Y 6917168 6917168 single base substitution G A intron_variant SKCA-BR Y 6959081 6959081 single base substitution C A intron_variant SKCM-US Y 6932064 6932064 single base substitution G A missense_variant A111T 331G>A SKCM-US Y 6932137 6932137 single base substitution C T missense_variant P135L 404C>T SKCM-US Y 6938851 6938851 single base substitution A C missense_variant E227D 681A>C SKCM-US Y 6939829 6939829 single base substitution G A stop_gained W284* 852G>A SKCM-US Y 6942649 6942649 single base substitution C T missense_variant P315S 943C>T SKCM-US Y 6948775 6948775 single base substitution C T missense_variant P320S 958C>T SKCM-US Y 6948886 6948886 single base substitution G A missense_variant G357R 1069G>A SKCM-US Y 6954416 6954416 single base substitution G A missense_variant G413E 1238G>A SKCM-US Y 6955439 6955439 single base substitution C T missense_variant S471F 1412C>T STAD-US Y 6954381 6954381 single base substitution C A missense_variant S401R 1203C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-159 COSM1267495 c.867delT p.Y290fs*3 Deletion - Frameshift 24:7071803-7071803 + TCGA-EE-A2GR-06 COSM3584493 c.681A>C p.E227D Substitution - Missense 24:7070810-7070810 + PT36 COSM5916967 c.526C>T p.R176W Substitution - Missense 24:7070264-7070264 + TCGA-CD-A4MI-01 COSM4111752 c.1203C>A p.S401R Substitution - Missense 24:7086340-7086340 + TCGA-EE-A3J5-06 COSM3584494 c.943C>T p.P315S Substitution - Missense 24:7074608-7074608 + BD117T COSM5507447 c.530G>A p.G177D Substitution - Missense 24:7070268-7070268 + 19 COSM5748349 c.1211T>A p.I404N Substitution - Missense 24:7086348-7086348 + SJBALL021507_D1 COSM3144479 c.1527C>T p.G509G Substitution - coding silent 24:7090169-7090169 + TCGA-AA-A00J-01 COSM179663 c.1179C>T p.C393C Substitution - coding silent 24:7086316-7086316 + TCGA-CJ-4923-01 COSM488726 c.218T>C p.F73S Substitution - Missense 24:7063910-7063910 + RMS112_ COSM3144475 c.438G>C p.E146D Substitution - Missense 24:7064130-7064130 + TCGA-FW-A3R5-06 COSM3914368 c.852G>A p.W284* Substitution - Nonsense 24:7071788-7071788 + TCGA-FW-A3R5-06 COSM3914370 c.1238G>A p.G413E Substitution - Missense 24:7086375-7086375 + TCGA-CC-A7IL-01 COSM4912066 c.742A>C p.T248P Substitution - Missense 24:7071569-7071569 + TCGA-21-5786-01 COSM758010 c.634A>T p.S212C Substitution - Missense 24:7070763-7070763 + T578 COSM4732475 c.316C>A p.Q106K Substitution - Missense 24:7064008-7064008 + TCGA-EE-A3JE-06 COSM3914366 c.331G>A p.A111T Substitution - Missense 24:7064023-7064023 + TCGA-AA-3666-01 COSM301579 c.540T>A p.S180S Substitution - coding silent 24:7070278-7070278 + SC_9096 COSM5573737 c.732+1G>A p.? Unknown 24:7070862-7070862 + ESCC-D5 COSM5046360 c.71C>T p.S24L Substitution - Missense 24:7042992-7042992 + SE3 COSM1165866 c.774C>T p.F258F Substitution - coding silent 24:7071601-7071601 + TCGA-EE-A2MC-06 COSM3584495 c.1069G>A p.G357R Substitution - Missense 24:7080845-7080845 + TCGA-A6-6653-01 COSM1470072 c.1447-2A>G p.? Unknown 24:7090087-7090087 + RMS112_ COSM3144474 c.373A>T p.T125S Substitution - Missense 24:7064065-7064065 + TCGA-FW-A3R5-06 COSM3914367 c.404C>T p.P135L Substitution - Missense 24:7064096-7064096 + CSCC-20-T COSM3974034 c.136C>T p.P46S Substitution - Missense 24:7043057-7043057 + 37M COSM5584145 c.529G>A p.G177S Substitution - Missense 24:7070267-7070267 + LAU63 COSM235465 c.198C>T p.I66I Substitution - coding silent 24:7043119-7043119 + CLL099 COSM1293091 c.18C>T p.D6D Substitution - coding silent 24:7025102-7025102 + TCGA-FG-A4MW-01 COSM3974034 c.136C>T p.P46S Substitution - Missense 24:7043057-7043057 + TCGA-18-3409-01 COSM758011 c.40C>T p.R14W Substitution - Missense 24:7025124-7025124 + HCC153 COSM3660046 c.1549-2A>T p.? Unknown 24:7091470-7091470 + TCGA-DK-A2I4-01 COSM3800813 c.1171G>A p.D391N Substitution - Missense 24:7086308-7086308 + PAPNNX COSM5004814 c.137C>T p.P46L Substitution - Missense 24:7043058-7043058 + NYU754 COSM4770928 c.1186G>A p.D396N Substitution - Missense 24:7086323-7086323 + TCGA-FW-A3R5-06 COSM3914369 c.958C>T p.P320S Substitution - Missense 24:7080734-7080734 + TCGA-CF-A3MI-01 COSM1315745 c.187G>C p.E63Q Substitution - Missense 24:7043108-7043108 + TCGA-ER-A193-06 COSM3584496 c.1412C>T p.S471F Substitution - Missense 24:7087398-7087398 + 481 COSM3723810 c.1311G>T p.W437C Substitution - Missense 24:7087297-7087297 + HCC153T COSM3660046 c.1549-2A>T p.? Unknown 24:7091470-7091470 + TCGA-AG-A002-01 COSM265517 c.925G>T p.E309* Substitution - Nonsense 24:7074590-7074590 + TCGA-F5-6814-01 COSM3426821 c.93G>T p.E31D Substitution - Missense 24:7043014-7043014 + T3498 COSM4732474 c.220G>A p.D74N Substitution - Missense 24:7063912-7063912 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.664540;Hs.664541;Hs.664543;Hs.664544;Hs.664545;Hs.664546;Hs.664548;Hs.664549;Hs.664550;Hs.664552;Hs.664553;Hs.664554;Hs.664556;Hs.664557;Hs.664558;Hs.664559;Hs.664560 Yp11.2 400033

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E227D c.681A>C Y 6938851 CM A G IntronicSNV . c.1-97133A>G Y 6795993 CLL A T Missense p.S212C c.634A>T Y 6938804 LUSC - C Frameshift p.A321Rfs*3 c.960dupC Y 6948773 HNSC C T Missense p.L16F c.46C>T Y 6893171 CM C T Missense p.P315S c.943C>T Y 6942649 CM C T Missense p.S471F c.1412C>T Y 6955439 CM C T Synonymous p.D6D c.18C>T Y 6893143 CLL G A Missense p.A111T c.331G>A Y 6932064 CM G A Missense p.D391N c.1171G>A Y 6954349 BLCA G A Missense p.G357R c.1069G>A Y 6948886 CM G C Missense p.E63Q c.187G>C Y 6911149 BLCA T A Synonymous p.S180S c.540T>A Y 6938319 COREAD T - Frameshift p.Y290Mfs*3 c.868delT Y 6939844 ESCA - T IntronicInsertion . c.895-179dupT Y 6942413 ESCA