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 72428497 72428497 single base substitution A G downstream_gene_variant BRCA-EU 7 72430238 72430240 deletion of <=200bp GCG - 3_prime_UTR_variant BRCA-EU 7 72437620 72437620 single base substitution C T intron_variant BRCA-EU 7 72437620 72437620 single base substitution C T upstream_gene_variant BRCA-EU 7 72438668 72438668 single base substitution G A intron_variant BRCA-EU 7 72438668 72438668 single base substitution G A upstream_gene_variant BRCA-EU 7 72441197 72441197 single base substitution G A upstream_gene_variant BRCA-EU 7 72441197 72441197 single base substitution G C upstream_gene_variant BRCA-EU 7 72443440 72443440 single base substitution G C upstream_gene_variant BRCA-FR 7 72440387 72440387 single base substitution G A upstream_gene_variant BRCA-US 7 72430734 72430734 single base substitution G T missense_variant L182M 544C>A BRCA-US 7 72436307 72436307 single base substitution C T missense_variant V128I 382G>A BRCA-US 7 72436310 72436310 single base substitution T G missense_variant T127P 379A>C CLLE-ES 7 72425642 72425642 deletion of <=200bp A - downstream_gene_variant COCA-CN 7 72426123 72426123 single base substitution C T downstream_gene_variant COCA-CN 7 72437683 72437683 single base substitution C T intron_variant COCA-CN 7 72437683 72437683 single base substitution C T upstream_gene_variant COCA-CN 7 72437688 72437688 single base substitution T C intron_variant COCA-CN 7 72437688 72437688 single base substitution T C upstream_gene_variant COCA-CN 7 72437708 72437708 single base substitution G A intron_variant COCA-CN 7 72437708 72437708 single base substitution G A upstream_gene_variant COCA-CN 7 72441380 72441380 single base substitution G T upstream_gene_variant LAML-KR 7 72430305 72430305 single base substitution A G 3_prime_UTR_variant LAML-KR 7 72430307 72430307 single base substitution A G 3_prime_UTR_variant LAML-KR 7 72431899 72431899 single base substitution T G missense_variant K159N 477A>C LAML-KR 7 72436307 72436307 single base substitution C T missense_variant V128I 382G>A LAML-KR 7 72436652 72436652 single base substitution A G missense_variant W13R 37T>C LICA-FR 7 72425628 72425628 single base substitution A G downstream_gene_variant LICA-FR 7 72426514 72426514 single base substitution C T downstream_gene_variant LICA-FR 7 72430331 72430331 single base substitution T G 3_prime_UTR_variant LICA-FR 7 72443548 72443548 single base substitution C A upstream_gene_variant LUSC-KR 7 72431899 72431899 single base substitution T G missense_variant K159N 477A>C LUSC-KR 7 72436618 72436618 single base substitution T A missense_variant K24M 71A>T LUSC-KR 7 72440997 72440997 single base substitution G A upstream_gene_variant LUSC-KR 7 72443909 72443909 single base substitution G A upstream_gene_variant MELA-AU 7 72425642 72425642 single base substitution A T downstream_gene_variant MELA-AU 7 72426227 72426227 single base substitution G A downstream_gene_variant MELA-AU 7 72436494 72436494 single base substitution G A synonymous_variant S65S 195C>T MELA-AU 7 72436787 72436787 single base substitution G A intron_variant MELA-AU 7 72436974 72436974 single base substitution G A intron_variant MELA-AU 7 72438286 72438286 single base substitution G A intron_variant MELA-AU 7 72438286 72438286 single base substitution G A upstream_gene_variant MELA-AU 7 72441268 72441268 single base substitution G A upstream_gene_variant MELA-AU 7 72443427 72443427 single base substitution G T upstream_gene_variant OV-AU 7 72442305 72442305 single base substitution G A upstream_gene_variant PACA-AU 7 72430314 72430314 single base substitution T C 3_prime_UTR_variant PACA-CA 7 72426122 72426122 single base substitution A G downstream_gene_variant PACA-CA 7 72426123 72426123 single base substitution C T downstream_gene_variant PACA-CA 7 72437778 72437778 single base substitution G T intron_variant PACA-CA 7 72437778 72437778 single base substitution G T upstream_gene_variant PACA-CA 7 72438325 72438325 single base substitution T A intron_variant PACA-CA 7 72438325 72438325 single base substitution T A upstream_gene_variant PAEN-AU 7 72438325 72438325 single base substitution T A intron_variant PAEN-AU 7 72438325 72438325 single base substitution T A upstream_gene_variant PBCA-DE 7 72436916 72436917 deletion of <=200bp GT - intron_variant PRAD-UK 7 72440429 72440429 single base substitution C T upstream_gene_variant PRAD-US 7 72430608 72430608 single base substitution G T missense_variant Q224K 670C>A SKCA-BR 7 72425628 72425628 single base substitution A G downstream_gene_variant SKCA-BR 7 72425642 72425642 insertion of <=200bp - ATATAT downstream_gene_variant SKCA-BR 7 72425642 72425642 insertion of <=200bp - ATATT downstream_gene_variant SKCA-BR 7 72425655 72425655 single base substitution T C downstream_gene_variant SKCA-BR 7 72426123 72426123 single base substitution C T downstream_gene_variant SKCA-BR 7 72426268 72426268 single base substitution G A downstream_gene_variant SKCA-BR 7 72426362 72426362 single base substitution C T downstream_gene_variant SKCA-BR 7 72426514 72426514 single base substitution C T downstream_gene_variant SKCA-BR 7 72426902 72426902 single base substitution C T downstream_gene_variant SKCA-BR 7 72428036 72428036 single base substitution G A downstream_gene_variant SKCA-BR 7 72430268 72430268 single base substitution T A 3_prime_UTR_variant SKCA-BR 7 72430269 72430269 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 72430307 72430307 single base substitution A G 3_prime_UTR_variant SKCA-BR 7 72437190 72437190 single base substitution G A intron_variant SKCA-BR 7 72438326 72438326 single base substitution A T intron_variant SKCA-BR 7 72438326 72438326 single base substitution A T upstream_gene_variant SKCA-BR 7 72441867 72441867 single base substitution A G upstream_gene_variant SKCM-US 7 72440394 72440394 single base substitution C T upstream_gene_variant UCEC-US 7 72430723 72430723 single base substitution C T synonymous_variant P185P 555G>A UCEC-US 7 72436426 72436426 single base substitution A G missense_variant V88A 263T>C UCEC-US 7 72436494 72436494 single base substitution G A synonymous_variant S65S 195C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand UM-SCC-47 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - WSU-HN12 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-EJ-5519-01 COSM1131529 c.670C>A p.Q224K Substitution - Missense 7:72960077-72960077 - UD-SCC-2 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - BHY COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-AP-A059-01 COSM1091515 c.263T>C p.V88A Substitution - Missense 7:72965895-72965895 - TCGA-E2-A1B1-01 COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - CHC322T COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - PTC-28C COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-A5-A0G9-01 COSM1091514 c.555G>A p.P185P Substitution - coding silent 7:72960192-72960192 - SCC-25 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - UPCI:SCC090 COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - CN-AML-CR-33-Dx COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - PTC-53C COSM4162392 c.55T>A p.C19S Substitution - Missense 7:72966103-72966103 - WSU-HN30 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-A2-A0T5-01 COSM3833150 c.379A>C p.T127P Substitution - Missense 7:72965779-72965779 - PTC-50C COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - ORL-48 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - LUAD-S01467 COSM399561 c.23T>C p.L8P Substitution - Missense 7:72966135-72966135 - WSU-HN8 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - NOKSI COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - BHY COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - T578 COSM4736241 c.264C>A p.V88V Substitution - coding silent 7:72965894-72965894 - I2L-P19Tb-Tumor-Biopsy COSM5358184 c.716A>G p.E239G Substitution - Missense 7:72960031-72960031 - TCGA-D1-A103-01 COSM1091516 c.195C>T p.S65S Substitution - coding silent 7:72965963-72965963 - CN-AML-CR-58-Dx COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - CAL33 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - BICR_22 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - WSU-HN13 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - I2L-P19Tb-Tumor-Organoid COSM5358184 c.716A>G p.E239G Substitution - Missense 7:72960031-72960031 - SCC-15 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - UM-SCC-2 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-E2-A153-01 COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - 93VU147T COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - UPCI:SCC090 COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - CN-AML-CR-30-Dx COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - UM-SCC-17B COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - TCGA-A8-A09Z-01 COSM3833148 c.544C>A p.L182M Substitution - Missense 7:72960203-72960203 - WSU-HN8 COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 - RMS88_ COSM4162393 c.37T>C p.W13R Substitution - Missense 7:72966121-72966121 - SCC-25 COSM3833149 c.382G>A p.V128I Substitution - Missense 7:72965776-72965776 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.645327;Hs.645328 7q11.23 612550 611414|dbSNP|BC033871|C/T|non-coding||86|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C T Synonymous p.P185P c.555G>A 7 72430723 UCEC G T Missense p.Q224K c.670C>A 7 72430608 PRAD