Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 58149446 58149446 + Silent SNP C C T TCGA-OR-A5JL-01A-11D-A29I-10 TCGA-OR-A5JL-10A-01D-A29L-10 g.chr12:58149446C>T c.135C>T c.(133-135)ggC>ggT p.G45G BLCA 12 58149663 58149663 + Missense_Mutation SNP G G C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chr12:58149663G>C c.352G>C c.(352-354)Gag>Cag p.E118Q BLCA 12 58152013 58152013 + Missense_Mutation SNP G G T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr12:58152013G>T c.636G>T c.(634-636)aaG>aaT p.K212N BLCA 12 58152659 58152659 + Silent SNP C C T TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr12:58152659C>T c.1020C>T c.(1018-1020)gtC>gtT p.V340V CESC 12 58152517 58152517 + Missense_Mutation SNP C C G TCGA-MY-A5BD-01A-11D-A26G-09 TCGA-MY-A5BD-10A-01D-A26G-09 g.chr12:58152517C>G c.878C>G c.(877-879)tCt>tGt p.S293C COAD 12 58152550 58152550 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:58152550G>A c.911G>A c.(910-912)cGc>cAc p.R304H COADREAD 12 58151918 58151918 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58151918G>A c.541G>A c.(541-543)Gag>Aag p.E181K COADREAD 12 58152550 58152550 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr12:58152550G>A c.911G>A c.(910-912)cGc>cAc p.R304H COADREAD 12 58152625 58152625 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58152625C>T c.986C>T c.(985-987)gCc>gTc p.A329V ESCA 12 58150746 58150746 + Missense_Mutation SNP C C T TCGA-XP-A8T6-01A-11D-A36J-09 TCGA-XP-A8T6-10A-01D-A36M-09 g.chr12:58150746C>T c.392C>T c.(391-393)tCa>tTa p.S131L GBM 12 58152353 58152353 + Silent SNP C C A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr12:58152353C>A c.714C>A c.(712-714)atC>atA p.I238I GBM 12 58152585 58152585 + Missense_Mutation SNP A A G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 g.chr12:58152585A>G c.946A>G c.(946-948)Aca>Gca p.T316A GBMLGG 12 58152353 58152353 + Silent SNP C C A TCGA-06-5856-01A-01D-1696-08 TCGA-06-5856-10A-01D-1696-08 g.chr12:58152353C>A c.714C>A c.(712-714)atC>atA p.I238I GBMLGG 12 58152527 58152527 + Silent SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:58152527G>A c.888G>A c.(886-888)acG>acA p.T296T GBMLGG 12 58152585 58152585 + Missense_Mutation SNP A A G TCGA-15-1444-01A-02D-1696-08 TCGA-15-1444-10A-01D-1696-08 g.chr12:58152585A>G c.946A>G c.(946-948)Aca>Gca p.T316A GBMLGG 12 58152664 58152664 + Missense_Mutation SNP G G C TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chr12:58152664G>C c.1025G>C c.(1024-1026)aGg>aCg p.R342T KICH 12 58152575 58152575 + Silent SNP C C T TCGA-KO-8411-01A-11D-2310-10 TCGA-KO-8411-11A-01D-2311-10 g.chr12:58152575C>T c.936C>T c.(934-936)cgC>cgT p.R312R KIPAN 12 58152575 58152575 + Silent SNP C C T TCGA-KO-8411-01A-11D-2310-10 TCGA-KO-8411-11A-01D-2311-10 g.chr12:58152575C>T c.936C>T c.(934-936)cgC>cgT p.R312R LGG 12 58152527 58152527 + Silent SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr12:58152527G>A c.888G>A c.(886-888)acG>acA p.T296T LGG 12 58152664 58152664 + Missense_Mutation SNP G G C TCGA-DU-A5TY-01A-11D-A289-08 TCGA-DU-A5TY-10A-01D-A289-08 g.chr12:58152664G>C c.1025G>C c.(1024-1026)aGg>aCg p.R342T LUAD 12 58150755 58150755 + Missense_Mutation SNP G G A TCGA-86-7954-01A-11D-2184-08 TCGA-86-7954-10A-01D-2184-08 g.chr12:58150755G>A c.401G>A c.(400-402)tGc>tAc p.C134Y LUAD 12 58152054 58152054 + Missense_Mutation SNP T T A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr12:58152054T>A c.677T>A c.(676-678)aTg>aAg p.M226K PAAD 12 58151910 58151910 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:58151910C>T c.533C>T c.(532-534)aCg>aTg p.T178M READ 12 58151918 58151918 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58151918G>A c.541G>A c.(541-543)Gag>Aag p.E181K READ 12 58152625 58152625 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:58152625C>T c.986C>T c.(985-987)gCc>gTc p.A329V SARC 12 58150836 58150836 + Missense_Mutation SNP T T C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 g.chr12:58150836T>C c.482T>C c.(481-483)gTc>gCc p.V161A SARC 12 58150839 58150839 + Missense_Mutation SNP T T A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 g.chr12:58150839T>A c.485T>A c.(484-486)cTg>cAg p.L162Q SARC 12 58152549 58152549 + Missense_Mutation SNP C C T TCGA-DX-A8BL-01A-11D-A417-09 TCGA-DX-A8BL-10A-01D-A41A-09 g.chr12:58152549C>T c.910C>T c.(910-912)Cgc>Tgc p.R304C SKCM 12 58152034 58152034 + Silent SNP C C T TCGA-EE-A29A-06A-12D-A196-08 TCGA-EE-A29A-10A-01D-A198-08 g.chr12:58152034C>T c.657C>T c.(655-657)ctC>ctT p.L219L SKCM 12 58152073 58152073 + Silent SNP C C T TCGA-RP-A695-06A-11D-A30X-08 TCGA-RP-A695-10A-01D-A30X-08 g.chr12:58152073C>T c.696C>T c.(694-696)gtC>gtT p.V232V SKCM 12 58152436 58152436 + Missense_Mutation SNP A A G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr12:58152436A>G c.797A>G c.(796-798)aAg>aGg p.K266R SKCM 12 58152541 58152541 + Missense_Mutation SNP C C A TCGA-EE-A20H-06A-11D-A197-08 TCGA-EE-A20H-10A-01D-A199-08 g.chr12:58152541C>A c.902C>A c.(901-903)gCt>gAt p.A301D SKCM 12 58152599 58152599 + Silent SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr12:58152599C>T c.960C>T c.(958-960)ctC>ctT p.L320L

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 12 58144834 58144834 single base substitution G C upstream_gene_variant BLCA-US 12 58144855 58144855 single base substitution G C upstream_gene_variant BLCA-US 12 58152013 58152013 single base substitution G T downstream_gene_variant BLCA-US 12 58152013 58152013 single base substitution G T missense_variant K212N 636G>T BLCA-US 12 58152013 58152013 single base substitution G T missense_variant K99N 297G>T BLCA-US 12 58157882 58157882 single base substitution T G downstream_gene_variant BLCA-US 12 58158842 58158842 single base substitution C A downstream_gene_variant BRCA-EU 12 58143920 58143920 single base substitution G C upstream_gene_variant BRCA-EU 12 58144039 58144039 single base substitution C T upstream_gene_variant BRCA-EU 12 58146558 58146558 single base substitution G A upstream_gene_variant BRCA-EU 12 58148598 58148598 single base substitution C T upstream_gene_variant BRCA-EU 12 58152502 58152502 single base substitution G A downstream_gene_variant BRCA-EU 12 58152502 58152502 single base substitution G A missense_variant R175Q 524G>A BRCA-EU 12 58152502 58152502 single base substitution G A missense_variant R288Q 863G>A BRCA-EU 12 58155317 58155317 single base substitution G A downstream_gene_variant BRCA-EU 12 58155848 58155848 single base substitution G A downstream_gene_variant BRCA-EU 12 58156326 58156326 single base substitution G C downstream_gene_variant BRCA-EU 12 58156785 58156785 single base substitution C G downstream_gene_variant BRCA-EU 12 58157085 58157085 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 58158068 58158068 deletion of <=200bp T - downstream_gene_variant BRCA-UK 12 58149737 58149737 single base substitution G C intron_variant BRCA-UK 12 58149737 58149737 single base substitution G C upstream_gene_variant BRCA-UK 12 58151638 58151638 single base substitution G C 5_prime_UTR_variant BRCA-UK 12 58151638 58151638 single base substitution G C downstream_gene_variant BRCA-UK 12 58151638 58151638 single base substitution G C intron_variant BRCA-US 12 58144765 58144765 single base substitution T G upstream_gene_variant BRCA-US 12 58157933 58157933 single base substitution G A downstream_gene_variant BRCA-US 12 58158219 58158219 single base substitution A G downstream_gene_variant BTCA-JP 12 58145599 58145599 deletion of <=200bp A - upstream_gene_variant BTCA-JP 12 58152578 58152578 single base substitution C T downstream_gene_variant BTCA-JP 12 58152578 58152578 single base substitution C T synonymous_variant C200C 600C>T BTCA-JP 12 58152578 58152578 single base substitution C T synonymous_variant C313C 939C>T BTCA-JP 12 58158898 58158914 deletion of <=200bp AACACCGAGCCCACAGC - downstream_gene_variant CESC-US 12 58145321 58145321 single base substitution C T upstream_gene_variant CESC-US 12 58152517 58152517 single base substitution C G downstream_gene_variant CESC-US 12 58152517 58152517 single base substitution C G missense_variant S180C 539C>G CESC-US 12 58152517 58152517 single base substitution C G missense_variant S293C 878C>G CESC-US 12 58157567 58157567 single base substitution C T downstream_gene_variant COAD-US 12 58144819 58144819 single base substitution C T upstream_gene_variant COAD-US 12 58145497 58145497 single base substitution C T upstream_gene_variant COAD-US 12 58149446 58149446 single base substitution C T synonymous_variant G45G 135C>T COAD-US 12 58149446 58149446 single base substitution C T upstream_gene_variant COAD-US 12 58152550 58152550 single base substitution G A downstream_gene_variant COAD-US 12 58152550 58152550 single base substitution G A missense_variant R191H 572G>A COAD-US 12 58152550 58152550 single base substitution G A missense_variant R304H 911G>A COAD-US 12 58152628 58152628 single base substitution G A downstream_gene_variant COAD-US 12 58152628 58152628 single base substitution G A missense_variant R217H 650G>A COAD-US 12 58152628 58152628 single base substitution G A missense_variant R330H 989G>A COAD-US 12 58157486 58157486 deletion of <=200bp G - downstream_gene_variant COAD-US 12 58157512 58157512 single base substitution C T downstream_gene_variant COAD-US 12 58158251 58158251 single base substitution G C downstream_gene_variant COAD-US 12 58158677 58158677 single base substitution C T downstream_gene_variant COAD-US 12 58159173 58159173 single base substitution C T downstream_gene_variant COCA-CN 12 58150781 58150781 single base substitution T G exon_variant COCA-CN 12 58150781 58150781 single base substitution T G missense_variant W143G 427T>G COCA-CN 12 58150781 58150781 single base substitution T G upstream_gene_variant COCA-CN 12 58158725 58158725 single base substitution G A downstream_gene_variant COCA-CN 12 58158958 58158958 single base substitution C G downstream_gene_variant ESAD-UK 12 58148087 58148087 single base substitution G T upstream_gene_variant ESAD-UK 12 58150693 58150693 single base substitution C T intron_variant ESAD-UK 12 58150693 58150693 single base substitution C T upstream_gene_variant ESAD-UK 12 58154873 58154873 single base substitution T C downstream_gene_variant ESCA-CN 12 58157468 58157468 single base substitution G A downstream_gene_variant ESCA-CN 12 58158384 58158384 single base substitution A C downstream_gene_variant ESCA-CN 12 58158827 58158827 single base substitution G T downstream_gene_variant GBM-US 12 58152353 58152353 single base substitution C A downstream_gene_variant GBM-US 12 58152353 58152353 single base substitution C A synonymous_variant I125I 375C>A GBM-US 12 58152353 58152353 single base substitution C A synonymous_variant I238I 714C>A GBM-US 12 58152585 58152585 single base substitution A G downstream_gene_variant GBM-US 12 58152585 58152585 single base substitution A G missense_variant T203A 607A>G GBM-US 12 58152585 58152585 single base substitution A G missense_variant T316A 946A>G GBM-US 12 58158677 58158677 single base substitution C T downstream_gene_variant GBM-US 12 58158830 58158830 single base substitution G A downstream_gene_variant GBM-US 12 58158993 58158993 single base substitution G T downstream_gene_variant KIRC-US 12 58144726 58144726 single base substitution G C upstream_gene_variant KIRC-US 12 58158259 58158259 single base substitution C T downstream_gene_variant KIRP-US 12 58158227 58158227 single base substitution G A downstream_gene_variant LGG-US 12 58152527 58152527 single base substitution G A downstream_gene_variant LGG-US 12 58152527 58152527 single base substitution G A synonymous_variant T183T 549G>A LGG-US 12 58152527 58152527 single base substitution G A synonymous_variant T296T 888G>A LICA-CN 12 58150781 58150781 single base substitution T G exon_variant LICA-CN 12 58150781 58150781 single base substitution T G missense_variant W143G 427T>G LICA-CN 12 58150781 58150781 single base substitution T G upstream_gene_variant LICA-FR 12 58146150 58146150 single base substitution G A upstream_gene_variant LICA-FR 12 58155647 58155647 single base substitution C T downstream_gene_variant LICA-FR 12 58155841 58155841 single base substitution T C downstream_gene_variant LINC-JP 12 58151541 58151541 single base substitution T C 5_prime_UTR_variant LINC-JP 12 58151541 58151541 single base substitution T C downstream_gene_variant LINC-JP 12 58151541 58151541 single base substitution T C intron_variant LINC-JP 12 58158774 58158774 single base substitution C G downstream_gene_variant LINC-JP 12 58158894 58158894 single base substitution C T downstream_gene_variant LIRI-JP 12 58144063 58144063 single base substitution G A upstream_gene_variant LIRI-JP 12 58144846 58144846 single base substitution G A upstream_gene_variant LIRI-JP 12 58154881 58154881 single base substitution T C downstream_gene_variant LIRI-JP 12 58155726 58155726 single base substitution G C downstream_gene_variant LUSC-KR 12 58149140 58149140 single base substitution C A 5_prime_UTR_variant LUSC-KR 12 58149140 58149140 single base substitution C A upstream_gene_variant LUSC-KR 12 58151294 58151294 single base substitution G T 5_prime_UTR_variant LUSC-KR 12 58151294 58151294 single base substitution G T exon_variant LUSC-KR 12 58151294 58151294 single base substitution G T intron_variant LUSC-KR 12 58158738 58158738 single base substitution T C downstream_gene_variant LUSC-KR 12 58159141 58159141 single base substitution G T downstream_gene_variant MALY-DE 12 58154183 58154183 single base substitution C T 3_prime_UTR_variant MALY-DE 12 58154183 58154183 single base substitution C T downstream_gene_variant MELA-AU 12 58144059 58144059 single base substitution G T upstream_gene_variant MELA-AU 12 58144121 58144121 single base substitution G A upstream_gene_variant MELA-AU 12 58144330 58144330 single base substitution A C upstream_gene_variant MELA-AU 12 58145424 58145424 single base substitution G A upstream_gene_variant MELA-AU 12 58145431 58145431 single base substitution G A upstream_gene_variant MELA-AU 12 58145617 58145617 single base substitution A G upstream_gene_variant MELA-AU 12 58146159 58146159 single base substitution G A upstream_gene_variant MELA-AU 12 58146184 58146184 single base substitution C T upstream_gene_variant MELA-AU 12 58146281 58146281 single base substitution A G upstream_gene_variant MELA-AU 12 58146302 58146302 single base substitution C T upstream_gene_variant MELA-AU 12 58147212 58147212 single base substitution A T upstream_gene_variant MELA-AU 12 58147446 58147446 single base substitution G A upstream_gene_variant MELA-AU 12 58148005 58148005 single base substitution A G upstream_gene_variant MELA-AU 12 58149494 58149494 single base substitution G A synonymous_variant S61S 183G>A MELA-AU 12 58149494 58149494 single base substitution G A upstream_gene_variant MELA-AU 12 58150467 58150467 single base substitution C G intron_variant MELA-AU 12 58150467 58150467 single base substitution C G upstream_gene_variant MELA-AU 12 58150533 58150533 single base substitution C T intron_variant MELA-AU 12 58150533 58150533 single base substitution C T upstream_gene_variant MELA-AU 12 58150601 58150601 single base substitution T G intron_variant MELA-AU 12 58150601 58150601 single base substitution T G upstream_gene_variant MELA-AU 12 58150979 58150980 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 12 58150979 58150980 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 58150979 58150980 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 58151015 58151015 single base substitution C T exon_variant MELA-AU 12 58151015 58151015 single base substitution C T intron_variant MELA-AU 12 58151015 58151015 single base substitution C T upstream_gene_variant MELA-AU 12 58151201 58151201 single base substitution C T exon_variant MELA-AU 12 58151201 58151201 single base substitution C T intron_variant MELA-AU 12 58151201 58151201 single base substitution C T upstream_gene_variant MELA-AU 12 58151345 58151345 single base substitution C T 5_prime_UTR_variant MELA-AU 12 58151345 58151345 single base substitution C T exon_variant MELA-AU 12 58151345 58151345 single base substitution C T intron_variant MELA-AU 12 58151542 58151542 single base substitution C T 5_prime_UTR_variant MELA-AU 12 58151542 58151542 single base substitution C T downstream_gene_variant MELA-AU 12 58151542 58151542 single base substitution C T intron_variant MELA-AU 12 58152123 58152123 single base substitution C T downstream_gene_variant MELA-AU 12 58152123 58152123 single base substitution C T intron_variant MELA-AU 12 58152531 58152531 single base substitution C G downstream_gene_variant MELA-AU 12 58152531 58152531 single base substitution C G missense_variant R185G 553C>G MELA-AU 12 58152531 58152531 single base substitution C G missense_variant R298G 892C>G MELA-AU 12 58154022 58154022 single base substitution G A 3_prime_UTR_variant MELA-AU 12 58154022 58154022 single base substitution G A downstream_gene_variant MELA-AU 12 58154348 58154348 single base substitution G A downstream_gene_variant MELA-AU 12 58155099 58155099 single base substitution A G downstream_gene_variant MELA-AU 12 58155356 58155356 single base substitution G A downstream_gene_variant MELA-AU 12 58155404 58155404 single base substitution G A downstream_gene_variant MELA-AU 12 58155847 58155847 single base substitution C T downstream_gene_variant MELA-AU 12 58155964 58155964 single base substitution T C downstream_gene_variant MELA-AU 12 58156187 58156187 single base substitution G A downstream_gene_variant MELA-AU 12 58156288 58156288 single base substitution A C downstream_gene_variant MELA-AU 12 58156375 58156376 multiple base substitution (>=2bp and <=200bp) TA AT downstream_gene_variant ORCA-IN 12 58151959 58151959 single base substitution C T downstream_gene_variant ORCA-IN 12 58151959 58151959 single base substitution C T synonymous_variant F194F 582C>T ORCA-IN 12 58151959 58151959 single base substitution C T synonymous_variant F81F 243C>T ORCA-IN 12 58152645 58152645 single base substitution G T downstream_gene_variant ORCA-IN 12 58152645 58152645 single base substitution G T missense_variant G223C 667G>T ORCA-IN 12 58152645 58152645 single base substitution G T missense_variant G336C 1006G>T OV-AU 12 58144651 58144651 single base substitution C A upstream_gene_variant OV-AU 12 58145370 58145370 single base substitution C T upstream_gene_variant OV-AU 12 58146158 58146158 single base substitution G C upstream_gene_variant OV-AU 12 58152952 58152952 single base substitution G C 3_prime_UTR_variant OV-AU 12 58152952 58152952 single base substitution G C downstream_gene_variant PACA-AU 12 58146388 58146388 deletion of <=200bp G - upstream_gene_variant PACA-AU 12 58153402 58153402 single base substitution A G 3_prime_UTR_variant PACA-AU 12 58153402 58153402 single base substitution A G downstream_gene_variant PACA-AU 12 58155142 58155142 single base substitution G A downstream_gene_variant PACA-CA 12 58155847 58155847 single base substitution C T downstream_gene_variant PACA-CA 12 58158829 58158829 insertion of <=200bp - G downstream_gene_variant PAEN-AU 12 58143937 58143940 deletion of <=200bp AATA - upstream_gene_variant PAEN-IT 12 58156121 58156121 single base substitution G A downstream_gene_variant PBCA-DE 12 58148785 58148785 single base substitution T C upstream_gene_variant PBCA-DE 12 58156333 58156336 deletion of <=200bp AAAG - downstream_gene_variant PRAD-CA 12 58149661 58149661 single base substitution C T exon_variant PRAD-CA 12 58149661 58149661 single base substitution C T missense_variant P117L 350C>T PRAD-CA 12 58149661 58149661 single base substitution C T upstream_gene_variant PRAD-UK 12 58150068 58150068 single base substitution C T intron_variant PRAD-UK 12 58150068 58150068 single base substitution C T upstream_gene_variant PRAD-US 12 58158697 58158697 single base substitution A G downstream_gene_variant READ-US 12 58145042 58145042 single base substitution C A upstream_gene_variant READ-US 12 58152049 58152049 single base substitution C T downstream_gene_variant READ-US 12 58152049 58152049 single base substitution C T synonymous_variant Y111Y 333C>T READ-US 12 58152049 58152049 single base substitution C T synonymous_variant Y224Y 672C>T READ-US 12 58159104 58159104 single base substitution C T downstream_gene_variant SKCA-BR 12 58143971 58143983 deletion of <=200bp TAAATAAATAAAA - upstream_gene_variant SKCA-BR 12 58144030 58144030 single base substitution C A upstream_gene_variant SKCA-BR 12 58145431 58145431 single base substitution G A upstream_gene_variant SKCA-BR 12 58145437 58145437 single base substitution T G upstream_gene_variant SKCA-BR 12 58147831 58147831 single base substitution C T upstream_gene_variant SKCA-BR 12 58148981 58148981 single base substitution G C 5_prime_UTR_variant SKCA-BR 12 58148981 58148981 single base substitution G C upstream_gene_variant SKCA-BR 12 58149071 58149071 single base substitution T C 5_prime_UTR_variant SKCA-BR 12 58149071 58149071 single base substitution T C upstream_gene_variant SKCA-BR 12 58149403 58149403 single base substitution G C missense_variant R31P 92G>C SKCA-BR 12 58149403 58149403 single base substitution G C upstream_gene_variant SKCA-BR 12 58150971 58150971 single base substitution A C exon_variant SKCA-BR 12 58150971 58150971 single base substitution A C intron_variant SKCA-BR 12 58150971 58150971 single base substitution A C upstream_gene_variant SKCA-BR 12 58151577 58151577 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 58151577 58151577 single base substitution G A downstream_gene_variant SKCA-BR 12 58151577 58151577 single base substitution G A intron_variant SKCA-BR 12 58152932 58152932 single base substitution A G 3_prime_UTR_variant SKCA-BR 12 58152932 58152932 single base substitution A G downstream_gene_variant SKCA-BR 12 58156299 58156299 single base substitution G T downstream_gene_variant SKCA-BR 12 58157200 58157200 single base substitution G A downstream_gene_variant SKCA-BR 12 58159103 58159103 single base substitution T C downstream_gene_variant SKCM-US 12 58145430 58145430 single base substitution C A upstream_gene_variant SKCM-US 12 58145430 58145430 single base substitution C T upstream_gene_variant SKCM-US 12 58145431 58145431 single base substitution G A upstream_gene_variant SKCM-US 12 58145431 58145431 single base substitution G T upstream_gene_variant SKCM-US 12 58145436 58145436 single base substitution T A upstream_gene_variant SKCM-US 12 58151945 58151945 single base substitution C T downstream_gene_variant SKCM-US 12 58151945 58151945 single base substitution C T synonymous_variant L190L 568C>T SKCM-US 12 58151945 58151945 single base substitution C T synonymous_variant L77L 229C>T SKCM-US 12 58152034 58152034 single base substitution C T downstream_gene_variant SKCM-US 12 58152034 58152034 single base substitution C T synonymous_variant L106L 318C>T SKCM-US 12 58152034 58152034 single base substitution C T synonymous_variant L219L 657C>T SKCM-US 12 58152073 58152073 single base substitution C T downstream_gene_variant SKCM-US 12 58152073 58152073 single base substitution C T synonymous_variant V119V 357C>T SKCM-US 12 58152073 58152073 single base substitution C T synonymous_variant V232V 696C>T SKCM-US 12 58152436 58152436 single base substitution A G downstream_gene_variant SKCM-US 12 58152436 58152436 single base substitution A G missense_variant K153R 458A>G SKCM-US 12 58152436 58152436 single base substitution A G missense_variant K266R 797A>G SKCM-US 12 58152437 58152437 single base substitution G A downstream_gene_variant SKCM-US 12 58152437 58152437 single base substitution G A synonymous_variant K153K 459G>A SKCM-US 12 58152437 58152437 single base substitution G A synonymous_variant K266K 798G>A SKCM-US 12 58152541 58152541 single base substitution C A downstream_gene_variant SKCM-US 12 58152541 58152541 single base substitution C A missense_variant A188D 563C>A SKCM-US 12 58152541 58152541 single base substitution C A missense_variant A301D 902C>A SKCM-US 12 58152599 58152599 single base substitution C T downstream_gene_variant SKCM-US 12 58152599 58152599 single base substitution C T synonymous_variant L207L 621C>T SKCM-US 12 58152599 58152599 single base substitution C T synonymous_variant L320L 960C>T SKCM-US 12 58158425 58158425 single base substitution A G downstream_gene_variant SKCM-US 12 58158686 58158686 single base substitution C T downstream_gene_variant SKCM-US 12 58158863 58158863 single base substitution A T downstream_gene_variant STAD-US 12 58152041 58152041 single base substitution A T downstream_gene_variant STAD-US 12 58152041 58152041 single base substitution A T missense_variant I109F 325A>T STAD-US 12 58152041 58152041 single base substitution A T missense_variant I222F 664A>T STAD-US 12 58157486 58157486 deletion of <=200bp G - downstream_gene_variant STAD-US 12 58158285 58158285 single base substitution C T downstream_gene_variant STAD-US 12 58158953 58158953 single base substitution C A downstream_gene_variant STAD-US 12 58159172 58159172 single base substitution A G downstream_gene_variant THCA-SA 12 58152948 58152948 single base substitution C T 3_prime_UTR_variant THCA-SA 12 58152948 58152948 single base substitution C T downstream_gene_variant UCEC-US 12 58144513 58144513 single base substitution A G upstream_gene_variant UCEC-US 12 58144707 58144707 single base substitution A C upstream_gene_variant UCEC-US 12 58145397 58145397 single base substitution T C upstream_gene_variant UCEC-US 12 58145447 58145447 single base substitution C T upstream_gene_variant UCEC-US 12 58150751 58150751 single base substitution C T exon_variant UCEC-US 12 58150751 58150751 single base substitution C T missense_variant R133C 397C>T UCEC-US 12 58150751 58150751 single base substitution C T upstream_gene_variant UCEC-US 12 58152016 58152016 single base substitution G A downstream_gene_variant UCEC-US 12 58152016 58152016 single base substitution G A stop_gained W100* 300G>A UCEC-US 12 58152016 58152016 single base substitution G A stop_gained W213* 639G>A UCEC-US 12 58152076 58152076 single base substitution C A downstream_gene_variant UCEC-US 12 58152076 58152076 single base substitution C A synonymous_variant V120V 360C>A UCEC-US 12 58152076 58152076 single base substitution C A synonymous_variant V233V 699C>A UCEC-US 12 58152555 58152555 single base substitution C T downstream_gene_variant UCEC-US 12 58152555 58152555 single base substitution C T missense_variant R193W 577C>T UCEC-US 12 58152555 58152555 single base substitution C T missense_variant R306W 916C>T UCEC-US 12 58157400 58157400 single base substitution C T downstream_gene_variant UCEC-US 12 58157437 58157437 single base substitution C G downstream_gene_variant UCEC-US 12 58157496 58157496 single base substitution A G downstream_gene_variant UCEC-US 12 58157527 58157527 single base substitution G T downstream_gene_variant UCEC-US 12 58157540 58157540 single base substitution G T downstream_gene_variant UCEC-US 12 58157562 58157562 single base substitution A G downstream_gene_variant UCEC-US 12 58157590 58157590 single base substitution G A downstream_gene_variant UCEC-US 12 58157883 58157883 single base substitution T G downstream_gene_variant UCEC-US 12 58158182 58158182 single base substitution G A downstream_gene_variant UCEC-US 12 58158202 58158202 single base substitution G A downstream_gene_variant UCEC-US 12 58158285 58158285 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 TCGA-EB-A24C-01 COSM3872192 c.568C>T p.L190L Substitution - coding silent 12:57758162-57758162 + D38 COSM5546191 c.892C>T p.R298C Substitution - Missense 12:57758748-57758748 + BZ28 COSM5758777 c.453C>T p.S151S Substitution - coding silent 12:57757024-57757024 + ESO-167 COSM1243790 c.442G>A p.G148S Substitution - Missense 12:57757013-57757013 + 7T COSM3710952 c.582C>T p.F194F Substitution - coding silent 12:57758176-57758176 + TCGA-EE-A29A-06 COSM3463916 c.657C>T p.L219L Substitution - coding silent 12:57758251-57758251 + TCGA-AX-A05Z-01 COSM942207 c.699C>A p.V233V Substitution - coding silent 12:57758293-57758293 + TCGA-B5-A11E-01 COSM942204 c.397C>T p.R133C Substitution - Missense 12:57756968-57756968 + PTC-7C COSM3753423 c.135C>T p.G45G Substitution - coding silent 12:57755663-57755663 + TCGA-MY-A5BD-01 COSM4746183 c.878C>G p.S293C Substitution - Missense 12:57758734-57758734 + PTC-28C COSM3753423 c.135C>T p.G45G Substitution - coding silent 12:57755663-57755663 + SC_9047 COSM5572081 c.427T>C p.W143R Substitution - Missense 12:57756998-57756998 + TCGA-AP-A0LM-01 COSM942209 c.916C>T p.R306W Substitution - Missense 12:57758772-57758772 + SJHGG034_D COSM4970453 c.973C>T p.R325W Substitution - Missense 12:57758829-57758829 + TCGA-AG-A002-01 COSM261919 c.986C>T p.A329V Substitution - Missense 12:57758842-57758842 + T3658 COSM4700700 c.643C>T p.R215* Substitution - Nonsense 12:57758237-57758237 + 27T COSM3710805 c.1006G>T p.G336C Substitution - Missense 12:57758862-57758862 + TCGA-RP-A695-06 COSM4896438 c.696C>T p.V232V Substitution - coding silent 12:57758290-57758290 + T2418 COSM4700699 c.31delA p.N11fs*3 Deletion - Frameshift 12:57755559-57755559 + TCGA-06-0138-01 COSM1559394 c.142A>C p.T48P Substitution - Missense 12:57755670-57755670 + TCGA-F5-6814-01 COSM1639195 c.672C>T p.Y224Y Substitution - coding silent 12:57758266-57758266 + TCGA-EE-A20H-06 COSM3463920 c.902C>A p.A301D Substitution - Missense 12:57758758-57758758 + TCGA-AZ-4315-01 COSM1363432 c.911G>A p.R304H Substitution - Missense 12:57758767-57758767 + TCGA-EB-A3XC-01 COSM3463918 c.798G>A p.K266K Substitution - coding silent 12:57758654-57758654 + S0033 COSM5882305 c.958C>T p.L320F Substitution - Missense 12:57758814-57758814 + TCGA-HT-8564-01 COSM3968355 c.888G>A p.T296T Substitution - coding silent 12:57758744-57758744 + PD7219a COSM5794476 c.863G>A p.R288Q Substitution - Missense 12:57758719-57758719 + N462T COSM236484 c.820G>T p.A274S Substitution - Missense 12:57758676-57758676 + Pat_41_B COSM5841641 c.535G>A p.V179I Substitution - Missense 12:57758129-57758129 + LIM2405 COSM4613341 c.894delC p.P300fs*42 Deletion - Frameshift 12:57758750-57758750 + TCGA-DA-A1HV-06 COSM3463922 c.960C>T p.L320L Substitution - coding silent 12:57758816-57758816 + A7 COSM5349843 c.429G>C p.W143C Substitution - Missense 12:57757000-57757000 + TCGA-DK-A1AC-01 COSM1299734 c.636G>T p.K212N Substitution - Missense 12:57758230-57758230 + TCGA-06-0185-01 COSM1559394 c.142A>C p.T48P Substitution - Missense 12:57755670-57755670 + TCGA-06-5856-01 COSM3398948 c.714C>A p.I238I Substitution - coding silent 12:57758570-57758570 + TCGA-G4-6294-01 COSM3753423 c.135C>T p.G45G Substitution - coding silent 12:57755663-57755663 + OSCC-GB_00070111 COSM3710952 c.582C>T p.F194F Substitution - coding silent 12:57758176-57758176 + TCGA-15-1444-01 COSM3398950 c.946A>G p.T316A Substitution - Missense 12:57758802-57758802 + BD6T COSM5499141 c.939C>T p.C313C Substitution - coding silent 12:57758795-57758795 + NCHP_DIPG101 COSM4746183 c.878C>G p.S293C Substitution - Missense 12:57758734-57758734 + TCGA-CK-5916-01 COSM3753424 c.989G>A p.R330H Substitution - Missense 12:57758845-57758845 + 61 COSM5739708 c.560C>T p.A187V Substitution - Missense 12:57758154-57758154 + TCGA-02-0004-01 COSM1559394 c.142A>C p.T48P Substitution - Missense 12:57755670-57755670 + sysucc-679T COSM5480595 c.427T>G p.W143G Substitution - Missense 12:57756998-57756998 + SW48 COSM1989850 c.893G>A p.R298H Substitution - Missense 12:57758749-57758749 + HCC067T COSM5480595 c.427T>G p.W143G Substitution - Missense 12:57756998-57756998 + LIM2405 COSM4641756 c.849C>T p.G283G Substitution - coding silent 12:57758705-57758705 + TCGA-AP-A059-01 COSM942205 c.639G>A p.W213* Substitution - Nonsense 12:57758233-57758233 + TCGA-D9-A6EC-06 COSM4404489 c.797A>G p.K266R Substitution - Missense 12:57758653-57758653 + pfg008T COSM1639195 c.672C>T p.Y224Y Substitution - coding silent 12:57758266-57758266 + PTC-73C COSM3753423 c.135C>T p.G45G Substitution - coding silent 12:57755663-57755663 + OSCC-GB_00270111 COSM3710805 c.1006G>T p.G336C Substitution - Missense 12:57758862-57758862 + TCGA-BR-7707-01 COSM4043950 c.664A>T p.I222F Substitution - Missense 12:57758258-57758258 + RKO COSM4614715 c.893_894insC p.A301fs*>47 Insertion - Frameshift 12:57758749-57758750 + HCC38T COSM1606457 c.333G>A p.R111R Substitution - coding silent 12:57755861-57755861 + PGBM10PT COSM1579809 c.552G>C p.Q184H Substitution - Missense 12:57758146-57758146 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632709 12q14.1 613336 2412852|CGAP|BC009489|C/T|non-coding||1219|Validated; 2412852|CGAP|BC036455|C/T|non-coding||1720|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.T316A c.946A>G 12 58152585 GBM C A Missense p.A301D c.902C>A 12 58152541 CM C A Synonymous p.I238I c.714C>A 12 58152353 GBM C - Frameshift p.P89Rfs*35 c.266delC 12 58149573 HNSC C T 3-UTRSNV . c.1038+1506C>T 12 58154183 DLBCL C T IntronicSNV . c.514-11C>T 12 58151880 HNSC C T Synonymous p.L190L c.568C>T 12 58151945 CM C T Synonymous p.L219L c.657C>T 12 58152034 CM C T Synonymous p.L320L c.960C>T 12 58152599 CM C T Synonymous p.Y224Y c.672C>T 12 58152049 STAD G A Missense p.G148S c.442G>A 12 58150796 ESCA G T Missense p.W204L c.611G>T 12 58151988 CM