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 7 75028242 75028242 + Missense_Mutation SNP G G A TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr7:75028242G>A c.25G>A c.(25-27)Gag>Aag p.E9K BLCA 7 75028248 75028248 + Missense_Mutation SNP G G A TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr7:75028248G>A c.31G>A c.(31-33)Gag>Aag p.E11K BLCA 7 75028277 75028277 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr7:75028277G>A c.60G>A c.(58-60)ctG>ctA p.L20L BLCA 7 75028290 75028290 + Nonsense_Mutation SNP G G T TCGA-XF-AAN0-01A-11D-A42E-08 TCGA-XF-AAN0-10A-01D-A42H-08 g.chr7:75028290G>T c.73G>T c.(73-75)Gag>Tag p.E25* BRCA 7 75028334 75028334 + Silent SNP C C T TCGA-PE-A5DE-01A-11D-A27P-09 TCGA-PE-A5DE-10A-01D-A27P-09 g.chr7:75028334C>T c.117C>T c.(115-117)tgC>tgT p.C39C BRCA 7 75028494 75028494 + Missense_Mutation SNP C C T TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr7:75028494C>T c.277C>T c.(277-279)Cgg>Tgg p.R93W BRCA 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-AR-A5QP-01A-11D-A28B-09 TCGA-AR-A5QP-10A-01D-A28E-09 g.chr7:75028599G>A c.382G>A c.(382-384)Gtc>Atc p.V128I BRCA 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-BH-A0HB-01A-11W-A071-09 TCGA-BH-A0HB-10A-01W-A071-09 g.chr7:75028599G>A c.382G>A c.(382-384)Gtc>Atc p.V128I BRCA 7 75034314 75034314 + Nonsense_Mutation SNP G G T TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr7:75034314G>T c.688G>T c.(688-690)Gaa>Taa p.E230* CESC 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-EA-A5ZE-01A-11D-A28B-09 TCGA-EA-A5ZE-10A-01D-A28E-09 g.chr7:75028599G>A c.382G>A c.(382-384)Gtc>Atc p.V128I ESCA 7 75028599 75028599 + Missense_Mutation SNP G G A TCGA-LN-A4MQ-01A-11D-A28B-09 TCGA-LN-A4MQ-10A-01D-A28E-09 g.chr7:75028599G>A c.382G>A c.(382-384)Gtc>Atc p.V128I GBM 7 75028495 75028495 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr7:75028495G>A c.278G>A c.(277-279)cGg>cAg p.R93Q GBMLGG 7 75028495 75028495 + Missense_Mutation SNP G G A TCGA-19-2629-01A-01D-1495-08 TCGA-19-2629-10A-01D-1495-08 g.chr7:75028495G>A c.278G>A c.(277-279)cGg>cAg p.R93Q GBMLGG 7 75028510 75028510 + Frame_Shift_Del DEL T T - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr7:75028510delT c.293delT c.(292-294)cttfs p.L98fs LGG 7 75028510 75028510 + Frame_Shift_Del DEL T T - TCGA-S9-A6WL-01A-21D-A33T-08 TCGA-S9-A6WL-10A-01D-A33W-08 g.chr7:75028510delT c.293delT c.(292-294)cttfs p.L98fs LUSC 7 75034322 75034322 + Silent SNP C C T TCGA-66-2767-01A-01D-1522-08 TCGA-66-2767-11A-01D-1522-08 g.chr7:75034322C>T c.696C>T c.(694-696)ttC>ttT p.F232F SKCM 7 75028289 75028289 + Silent SNP G G A TCGA-EE-A2GM-06B-11D-A196-08 TCGA-EE-A2GM-10A-01D-A198-08 g.chr7:75028289G>A c.72G>A c.(70-72)aaG>aaA p.K24K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 7 75023056 75023056 deletion of <=200bp C - upstream_gene_variant BRCA-EU 7 75023589 75023589 single base substitution C G upstream_gene_variant BRCA-EU 7 75038298 75038298 single base substitution C T downstream_gene_variant BRCA-EU 7 75038298 75038298 single base substitution C T intron_variant BRCA-EU 7 75038383 75038383 single base substitution C G downstream_gene_variant BRCA-EU 7 75038383 75038383 single base substitution C G intron_variant BRCA-EU 7 75039108 75039108 single base substitution G A downstream_gene_variant BRCA-EU 7 75039108 75039108 single base substitution G A intron_variant BRCA-EU 7 75041542 75041542 single base substitution T C downstream_gene_variant BRCA-EU 7 75042124 75042124 single base substitution C T downstream_gene_variant BRCA-EU 7 75044427 75044427 deletion of <=200bp C - downstream_gene_variant BRCA-EU 7 75044464 75044464 single base substitution C T downstream_gene_variant BRCA-EU 7 75045068 75045068 single base substitution T A downstream_gene_variant BRCA-FR 7 75027732 75027732 single base substitution G C intron_variant BRCA-FR 7 75027732 75027732 single base substitution G C upstream_gene_variant BRCA-FR 7 75028767 75028767 single base substitution G C downstream_gene_variant BRCA-FR 7 75028767 75028767 single base substitution G C intron_variant BRCA-FR 7 75028767 75028767 single base substitution G C upstream_gene_variant BRCA-FR 7 75029578 75029578 single base substitution G A downstream_gene_variant BRCA-FR 7 75029578 75029578 single base substitution G A intron_variant BRCA-FR 7 75029578 75029578 single base substitution G A upstream_gene_variant BRCA-FR 7 75042124 75042124 single base substitution C T downstream_gene_variant BRCA-FR 7 75044464 75044464 single base substitution C T downstream_gene_variant BRCA-US 7 75024709 75024709 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 7 75024709 75024709 single base substitution C G exon_variant BRCA-US 7 75024709 75024709 single base substitution C G upstream_gene_variant BRCA-US 7 75028494 75028494 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 7 75028494 75028494 single base substitution C T downstream_gene_variant BRCA-US 7 75028494 75028494 single base substitution C T missense_variant R93W 277C>T BRCA-US 7 75028494 75028494 single base substitution C T upstream_gene_variant BRCA-US 7 75028599 75028599 single base substitution G A 5_prime_UTR_variant BRCA-US 7 75028599 75028599 single base substitution G A downstream_gene_variant BRCA-US 7 75028599 75028599 single base substitution G A missense_variant V128I 382G>A BRCA-US 7 75028599 75028599 single base substitution G A upstream_gene_variant BRCA-US 7 75034314 75034314 single base substitution G T exon_variant BRCA-US 7 75034314 75034314 single base substitution G T stop_gained E230* 688G>T BRCA-US 7 75034314 75034314 single base substitution G T stop_gained E99* 295G>T BRCA-US 7 75044928 75044928 single base substitution G T downstream_gene_variant CESC-US 7 75028599 75028599 single base substitution G A 5_prime_UTR_variant CESC-US 7 75028599 75028599 single base substitution G A downstream_gene_variant CESC-US 7 75028599 75028599 single base substitution G A missense_variant V128I 382G>A CESC-US 7 75028599 75028599 single base substitution G A upstream_gene_variant COCA-CN 7 75023589 75023589 single base substitution C T upstream_gene_variant COCA-CN 7 75039244 75039244 single base substitution A G downstream_gene_variant COCA-CN 7 75039244 75039244 single base substitution A G intron_variant COCA-CN 7 75039258 75039258 single base substitution A T downstream_gene_variant COCA-CN 7 75039258 75039258 single base substitution A T intron_variant COCA-CN 7 75039276 75039276 single base substitution C T downstream_gene_variant COCA-CN 7 75039276 75039276 single base substitution C T intron_variant GBM-US 7 75028495 75028495 single base substitution G A 5_prime_UTR_variant GBM-US 7 75028495 75028495 single base substitution G A downstream_gene_variant GBM-US 7 75028495 75028495 single base substitution G A missense_variant R93Q 278G>A GBM-US 7 75028495 75028495 single base substitution G A upstream_gene_variant KIRC-US 7 75033015 75033015 single base substitution C T downstream_gene_variant KIRC-US 7 75033015 75033015 single base substitution C T exon_variant KIRC-US 7 75033015 75033015 single base substitution C T stop_gained R163* 487C>T KIRC-US 7 75033015 75033015 single base substitution C T stop_gained R32* 94C>T LAML-KR 7 75028240 75028240 single base substitution T C exon_variant LAML-KR 7 75028240 75028240 single base substitution T C intron_variant LAML-KR 7 75028240 75028240 single base substitution T C missense_variant L8P 23T>C LAML-KR 7 75028240 75028240 single base substitution T C upstream_gene_variant LAML-KR 7 75028241 75028241 single base substitution G A exon_variant LAML-KR 7 75028241 75028241 single base substitution G A intron_variant LAML-KR 7 75028241 75028241 single base substitution G A synonymous_variant L8L 24G>A LAML-KR 7 75028241 75028241 single base substitution G A upstream_gene_variant LAML-KR 7 75034054 75034054 single base substitution C T exon_variant LAML-KR 7 75034054 75034054 single base substitution C T intron_variant LAML-KR 7 75034597 75034597 single base substitution T C 3_prime_UTR_variant LAML-KR 7 75034597 75034597 single base substitution T C exon_variant LAML-KR 7 75034597 75034597 single base substitution T C intron_variant LAML-KR 7 75034599 75034599 single base substitution T C 3_prime_UTR_variant LAML-KR 7 75034599 75034599 single base substitution T C exon_variant LAML-KR 7 75034599 75034599 single base substitution T C intron_variant LAML-KR 7 75040770 75040770 single base substitution C G downstream_gene_variant LAML-KR 7 75040964 75040964 single base substitution G A downstream_gene_variant LGG-US 7 75045031 75045031 single base substitution C T downstream_gene_variant LUSC-KR 7 75022833 75022833 single base substitution A T upstream_gene_variant LUSC-KR 7 75026927 75026927 single base substitution A C intron_variant LUSC-KR 7 75026927 75026927 single base substitution A C upstream_gene_variant LUSC-KR 7 75027891 75027891 single base substitution C T intron_variant LUSC-KR 7 75027891 75027891 single base substitution C T upstream_gene_variant LUSC-KR 7 75028288 75028288 single base substitution A T exon_variant LUSC-KR 7 75028288 75028288 single base substitution A T intron_variant LUSC-KR 7 75028288 75028288 single base substitution A T missense_variant K24M 71A>T LUSC-KR 7 75028288 75028288 single base substitution A T upstream_gene_variant LUSC-KR 7 75028599 75028599 single base substitution G A 5_prime_UTR_variant LUSC-KR 7 75028599 75028599 single base substitution G A downstream_gene_variant LUSC-KR 7 75028599 75028599 single base substitution G A missense_variant V128I 382G>A LUSC-KR 7 75028599 75028599 single base substitution G A upstream_gene_variant LUSC-KR 7 75034597 75034597 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 75034597 75034597 single base substitution T C exon_variant LUSC-KR 7 75034597 75034597 single base substitution T C intron_variant LUSC-KR 7 75034599 75034599 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 75034599 75034599 single base substitution T C exon_variant LUSC-KR 7 75034599 75034599 single base substitution T C intron_variant LUSC-KR 7 75035905 75035905 single base substitution G T downstream_gene_variant LUSC-KR 7 75035905 75035905 single base substitution G T intron_variant LUSC-KR 7 75039276 75039276 single base substitution C T downstream_gene_variant LUSC-KR 7 75039276 75039276 single base substitution C T intron_variant LUSC-US 7 75034322 75034322 single base substitution C T exon_variant LUSC-US 7 75034322 75034322 single base substitution C T synonymous_variant F101F 303C>T LUSC-US 7 75034322 75034322 single base substitution C T synonymous_variant F232F 696C>T MELA-AU 7 75022204 75022204 single base substitution G A upstream_gene_variant MELA-AU 7 75035692 75035692 single base substitution G A downstream_gene_variant MELA-AU 7 75035692 75035692 single base substitution G A intron_variant MELA-AU 7 75044209 75044209 single base substitution T C downstream_gene_variant OV-AU 7 75023033 75023033 single base substitution G T upstream_gene_variant OV-AU 7 75023590 75023590 single base substitution G A upstream_gene_variant OV-AU 7 75044116 75044116 single base substitution T C downstream_gene_variant PACA-CA 7 75026574 75026574 single base substitution T A intron_variant PACA-CA 7 75026574 75026574 single base substitution T A upstream_gene_variant PBCA-DE 7 75044544 75044544 single base substitution A T downstream_gene_variant PRAD-US 7 75044432 75044432 single base substitution G A downstream_gene_variant SKCA-BR 7 75028183 75028183 single base substitution G A intron_variant SKCA-BR 7 75028183 75028183 single base substitution G A upstream_gene_variant SKCA-BR 7 75028184 75028184 single base substitution G A intron_variant SKCA-BR 7 75028184 75028184 single base substitution G A upstream_gene_variant SKCA-BR 7 75029535 75029535 single base substitution C T downstream_gene_variant SKCA-BR 7 75029535 75029535 single base substitution C T intron_variant SKCA-BR 7 75029535 75029535 single base substitution C T upstream_gene_variant SKCA-BR 7 75038298 75038298 single base substitution C T downstream_gene_variant SKCA-BR 7 75038298 75038298 single base substitution C T intron_variant SKCA-BR 7 75039569 75039569 single base substitution G A downstream_gene_variant SKCA-BR 7 75039569 75039569 single base substitution G A intron_variant SKCA-BR 7 75042427 75042427 single base substitution C A downstream_gene_variant SKCA-BR 7 75045082 75045082 single base substitution G A downstream_gene_variant SKCM-US 7 75023525 75023525 single base substitution C T upstream_gene_variant SKCM-US 7 75023590 75023590 single base substitution G A upstream_gene_variant SKCM-US 7 75028289 75028289 single base substitution G A exon_variant SKCM-US 7 75028289 75028289 single base substitution G A intron_variant SKCM-US 7 75028289 75028289 single base substitution G A synonymous_variant K24K 72G>A SKCM-US 7 75028289 75028289 single base substitution G A upstream_gene_variant STAD-US 7 75034218 75034218 deletion of <=200bp G - exon_variant STAD-US 7 75034218 75034218 deletion of <=200bp G - frameshift_variant G198 STAD-US 7 75034218 75034218 deletion of <=200bp G - frameshift_variant G67 THCA-SA 7 75044463 75044463 single base substitution G A downstream_gene_variant UCEC-US 7 75028412 75028412 single base substitution C T 5_prime_UTR_variant UCEC-US 7 75028412 75028412 single base substitution C T downstream_gene_variant UCEC-US 7 75028412 75028412 single base substitution C T synonymous_variant S65S 195C>T UCEC-US 7 75028412 75028412 single base substitution C T upstream_gene_variant UCEC-US 7 75034121 75034121 single base substitution G T exon_variant UCEC-US 7 75034121 75034121 single base substitution G T splice_acceptor_variant UCEC-US 7 75045046 75045046 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 T3021 COSM4736239 c.661C>T p.R221W Substitution - Missense 7:75405004-75405004 + SCA23 COSM248707 c.217T>A p.W73R Substitution - Missense 7:75399150-75399150 + SNUH_G47_S1 COSM3982267 c.477A>C p.K159N Substitution - Missense 7:75403722-75403722 + TCGA-AR-A5QP-01 COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + CHC320T COSM4408615 c.55T>A p.C19S Substitution - Missense 7:75398988-75398988 + TCGA-AF-2689-01 COSM287717 c.487C>T p.R163* Substitution - Nonsense 7:75403732-75403732 + TCGA-19-2629-01 COSM3412292 c.278G>A p.R93Q Substitution - Missense 7:75399211-75399211 + BHY COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + PTC-14C COSM4162437 c.23T>C p.L8P Substitution - Missense 7:75398956-75398956 + PTC-14C COSM4162439 c.24G>A p.L8L Substitution - coding silent 7:75398957-75398957 + ESO-081 COSM1243697 c.117C>T p.C39C Substitution - coding silent 7:75399050-75399050 + TCGA-AO-A128-01 COSM3833240 c.277C>T p.R93W Substitution - Missense 7:75399210-75399210 + TCGA-AK-3454-01 COSM287717 c.487C>T p.R163* Substitution - Nonsense 7:75403732-75403732 + ACC-3 COSM4967640 c.692A>G p.Q231R Substitution - Missense 7:75405035-75405035 + PTC-6C COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + TCGA-EE-A2GM-06 COSM3640556 c.72G>A p.K24K Substitution - coding silent 7:75399005-75399005 + TCGA-D1-A103-01 COSM1091734 c.195C>T p.S65S Substitution - coding silent 7:75399128-75399128 + T36 COSM4736237 c.70A>G p.K24E Substitution - Missense 7:75399003-75399003 + SE21PT COSM248707 c.217T>A p.W73R Substitution - Missense 7:75399150-75399150 + SCC-25 COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + CN-AML-47-T COSM4162439 c.24G>A p.L8L Substitution - coding silent 7:75398957-75398957 + TCGA-BH-A0HB-01 COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + TCGA-BS-A0TA-01 COSM1091732 c.154C>T p.R52C Substitution - Missense 7:75399087-75399087 + CN-AML-NR-47-Dx COSM4162437 c.23T>C p.L8P Substitution - Missense 7:75398956-75398956 + PTC-28C COSM4162439 c.24G>A p.L8L Substitution - coding silent 7:75398957-75398957 + TCGA-AB-2840-03 COSM1319792 c.629T>C p.M210T Substitution - Missense 7:75404972-75404972 + WSU-HN8 COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + PTC-515C COSM3833242 c.382G>A p.V128I Substitution - Missense 7:75399315-75399315 + TCGA-66-2767-01 COSM747121 c.696C>T p.F232F Substitution - coding silent 7:75405039-75405039 + Pat_41_B COSM5873075 c.726G>A p.W242* Substitution - Nonsense 7:75405069-75405069 + TCGA-C8-A26Y-01 COSM3833244 c.688G>T p.E230* Substitution - Nonsense 7:75405031-75405031 + STC252 COSM4162439 c.24G>A p.L8L Substitution - coding silent 7:75398957-75398957 + CN-AML-47-T COSM4162437 c.23T>C p.L8P Substitution - Missense 7:75398956-75398956 + CN-AML-NR-47-Dx COSM4162439 c.24G>A p.L8L Substitution - coding silent 7:75398957-75398957 + TCGA-D1-A17Q-01 COSM1091736 c.496-1G>T p.? Unknown 7:75404838-75404838 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.632307 7q11.23 612549 Hs.733046 7q11.23 612549

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K159N c.477A>C 7 75033005 OV C T Synonymous p.F232F c.696C>T 7 75034322 LUSC G A Missense p.R93Q c.278G>A 7 75028495 GBM G A Synonymous p.K24K c.72G>A 7 75028289 CM