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 8 30612199 30612199 + RNA SNP G G A TCGA-ZF-A9R1-01A-11D-A391-08 TCGA-ZF-A9R1-10A-01D-A394-08 g.chr8:30612199G>A BLCA 8 30614338 30614338 + RNA SNP G G C TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr8:30614338G>C BLCA 8 30620854 30620854 + RNA SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr8:30620854C>T BRCA 8 30614352 30614352 + RNA SNP C C A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr8:30614352C>A BRCA 8 30614364 30614364 + RNA SNP C C G TCGA-BH-A18V-01A-11D-A12B-09 TCGA-BH-A18V-11A-52D-A12B-09 g.chr8:30614364C>G COAD 8 30610592 30610592 + RNA DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr8:30610592delA COAD 8 30614373 30614373 + RNA SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr8:30614373C>T COADREAD 8 30610592 30610592 + RNA DEL A A - TCGA-AA-3492-01A-01D-1408-10 TCGA-AA-3492-11A-01D-1408-10 g.chr8:30610592delA COADREAD 8 30614373 30614373 + RNA SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr8:30614373C>T GBM 8 30609013 30609013 + RNA SNP A A C TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr8:30609013A>C GBMLGG 8 30609013 30609013 + RNA SNP A A C TCGA-76-4927-01A-01D-1486-08 TCGA-76-4927-10A-01D-1486-08 g.chr8:30609013A>C HNSC 8 30608921 30608921 + RNA SNP G G A TCGA-BA-5152-01A-02D-1870-08 TCGA-BA-5152-10A-01D-1870-08 g.chr8:30608921G>A HNSC 8 30614307 30614307 + RNA SNP C C G TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr8:30614307C>G HNSC 8 30620834 30620834 + RNA SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr8:30620834G>A LUAD 8 30623911 30623911 + RNA SNP G G A TCGA-91-8497-01A-11D-2393-08 TCGA-91-8497-10A-01D-2393-08 g.chr8:30623911G>A LUSC 8 30623785 30623785 + RNA SNP C C A TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr8:30623785C>A LUSC 8 30623805 30623805 + RNA SNP C C A TCGA-39-5028-01A-01D-1441-08 TCGA-39-5028-11A-01D-1441-08 g.chr8:30623805C>A PAAD 8 30623764 30623764 + RNA SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr8:30623764A>G SARC 8 30601706 30601706 + RNA SNP C C T TCGA-DX-A8BM-01A-11D-A417-09 TCGA-DX-A8BM-10B-01D-A41A-09 g.chr8:30601706C>T SKCM 8 30601740 30601740 + RNA SNP C C T TCGA-EE-A29R-06A-11D-A197-08 TCGA-EE-A29R-10A-01D-A199-08 g.chr8:30601740C>T SKCM 8 30623851 30623851 + RNA SNP G G A TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr8:30623851G>A

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 8 30620854 30620854 single base substitution C T downstream_gene_variant BLCA-US 8 30620854 30620854 single base substitution C T exon_variant BRCA-EU 8 30584775 30584775 single base substitution G T upstream_gene_variant BRCA-EU 8 30587623 30587623 single base substitution G A upstream_gene_variant BRCA-EU 8 30588667 30588667 single base substitution G C upstream_gene_variant BRCA-EU 8 30589805 30589805 single base substitution G C exon_variant BRCA-EU 8 30589805 30589805 single base substitution G C upstream_gene_variant BRCA-EU 8 30590266 30590266 single base substitution G T exon_variant BRCA-EU 8 30590266 30590266 single base substitution G T intron_variant BRCA-EU 8 30590737 30590738 deletion of <=200bp TG - exon_variant BRCA-EU 8 30590737 30590738 deletion of <=200bp TG - intron_variant BRCA-EU 8 30592043 30592063 deletion of <=200bp GAAAGGATCACTTGAGCCCAG - intron_variant BRCA-EU 8 30592169 30592169 single base substitution G C intron_variant BRCA-EU 8 30592762 30592762 insertion of <=200bp - A intron_variant BRCA-EU 8 30593318 30593318 single base substitution C G intron_variant BRCA-EU 8 30594057 30594057 single base substitution C A intron_variant BRCA-EU 8 30594900 30594900 single base substitution C T intron_variant BRCA-EU 8 30595108 30595108 single base substitution T C intron_variant BRCA-EU 8 30595852 30595852 single base substitution G C intron_variant BRCA-EU 8 30596364 30596364 single base substitution A T intron_variant BRCA-EU 8 30596733 30596733 single base substitution G C intron_variant BRCA-EU 8 30596733 30596733 single base substitution G C upstream_gene_variant BRCA-EU 8 30596932 30596932 single base substitution G A intron_variant BRCA-EU 8 30596932 30596932 single base substitution G A upstream_gene_variant BRCA-EU 8 30597782 30597782 single base substitution C G intron_variant BRCA-EU 8 30597782 30597782 single base substitution C G upstream_gene_variant BRCA-EU 8 30597834 30597834 single base substitution A G intron_variant BRCA-EU 8 30597834 30597834 single base substitution A G upstream_gene_variant BRCA-EU 8 30598157 30598157 single base substitution G A intron_variant BRCA-EU 8 30598157 30598157 single base substitution G A upstream_gene_variant BRCA-EU 8 30598661 30598661 single base substitution G T intron_variant BRCA-EU 8 30598661 30598661 single base substitution G T upstream_gene_variant BRCA-EU 8 30599160 30599160 single base substitution G T intron_variant BRCA-EU 8 30599160 30599160 single base substitution G T upstream_gene_variant BRCA-EU 8 30600515 30600515 single base substitution A G intron_variant BRCA-EU 8 30600515 30600515 single base substitution A G upstream_gene_variant BRCA-EU 8 30601273 30601273 single base substitution A T intron_variant BRCA-EU 8 30601273 30601273 single base substitution A T upstream_gene_variant BRCA-EU 8 30602107 30602107 single base substitution T G intron_variant BRCA-EU 8 30605650 30605650 single base substitution T C intron_variant BRCA-EU 8 30605650 30605650 single base substitution T C upstream_gene_variant BRCA-EU 8 30606067 30606067 deletion of <=200bp T - intron_variant BRCA-EU 8 30606067 30606067 deletion of <=200bp T - upstream_gene_variant BRCA-EU 8 30607527 30607527 single base substitution C G intron_variant BRCA-EU 8 30607527 30607527 single base substitution C G upstream_gene_variant BRCA-EU 8 30608867 30608867 deletion of <=200bp A - intron_variant BRCA-EU 8 30608867 30608867 deletion of <=200bp A - upstream_gene_variant BRCA-EU 8 30610856 30610856 single base substitution C G downstream_gene_variant BRCA-EU 8 30610856 30610856 single base substitution C G intron_variant BRCA-EU 8 30610856 30610856 single base substitution C G upstream_gene_variant BRCA-EU 8 30610984 30610984 single base substitution G T downstream_gene_variant BRCA-EU 8 30610984 30610984 single base substitution G T intron_variant BRCA-EU 8 30610984 30610984 single base substitution G T upstream_gene_variant BRCA-EU 8 30612799 30612799 single base substitution C G downstream_gene_variant BRCA-EU 8 30612799 30612799 single base substitution C G intron_variant BRCA-EU 8 30612799 30612799 single base substitution C G upstream_gene_variant BRCA-EU 8 30613465 30613465 single base substitution A G downstream_gene_variant BRCA-EU 8 30613465 30613465 single base substitution A G intron_variant BRCA-EU 8 30613465 30613465 single base substitution A G upstream_gene_variant BRCA-EU 8 30614674 30614674 single base substitution T A intron_variant BRCA-EU 8 30615977 30615977 single base substitution A G intron_variant BRCA-EU 8 30615977 30615977 single base substitution A G upstream_gene_variant BRCA-EU 8 30616471 30616471 single base substitution C T intron_variant BRCA-EU 8 30616471 30616471 single base substitution C T upstream_gene_variant BRCA-EU 8 30622274 30622274 single base substitution T C downstream_gene_variant BRCA-EU 8 30622274 30622274 single base substitution T C intron_variant BRCA-EU 8 30622838 30622838 single base substitution G A downstream_gene_variant BRCA-EU 8 30622838 30622838 single base substitution G A intron_variant BRCA-EU 8 30624648 30624648 deletion of <=200bp T - downstream_gene_variant BRCA-EU 8 30624875 30624875 single base substitution C G downstream_gene_variant BRCA-EU 8 30625252 30625252 single base substitution A C downstream_gene_variant BRCA-EU 8 30626280 30626280 single base substitution T C downstream_gene_variant BRCA-EU 8 30626626 30626626 single base substitution T C downstream_gene_variant BRCA-EU 8 30626731 30626731 deletion of <=200bp A - downstream_gene_variant BRCA-EU 8 30629015 30629015 deletion of <=200bp A - downstream_gene_variant BRCA-FR 8 30587187 30587187 single base substitution T C upstream_gene_variant BRCA-FR 8 30588719 30588719 single base substitution G C upstream_gene_variant BRCA-FR 8 30607527 30607527 single base substitution C G intron_variant BRCA-FR 8 30607527 30607527 single base substitution C G upstream_gene_variant BRCA-UK 8 30594686 30594686 single base substitution C T intron_variant BRCA-UK 8 30595108 30595108 single base substitution T C intron_variant BRCA-UK 8 30618046 30618046 single base substitution C T intron_variant BRCA-UK 8 30618046 30618046 single base substitution C T upstream_gene_variant BRCA-US 8 30601689 30601689 single base substitution C T exon_variant BRCA-US 8 30601689 30601689 single base substitution C T intron_variant BRCA-US 8 30601689 30601689 single base substitution C T upstream_gene_variant BRCA-US 8 30614352 30614352 single base substitution C A exon_variant BRCA-US 8 30614364 30614364 single base substitution C G exon_variant BTCA-JP 8 30623683 30623683 single base substitution T C downstream_gene_variant BTCA-JP 8 30623683 30623683 single base substitution T C intron_variant CLLE-ES 8 30585282 30585282 single base substitution C A upstream_gene_variant CLLE-ES 8 30588539 30588539 single base substitution A G upstream_gene_variant CLLE-ES 8 30595339 30595339 single base substitution T G intron_variant CLLE-ES 8 30605515 30605515 single base substitution T C intron_variant CLLE-ES 8 30605515 30605515 single base substitution T C upstream_gene_variant COCA-CN 8 30585004 30585004 single base substitution G C upstream_gene_variant COCA-CN 8 30585076 30585076 single base substitution C T upstream_gene_variant COCA-CN 8 30591311 30591311 single base substitution G T intron_variant COCA-CN 8 30596384 30596384 single base substitution A G intron_variant COCA-CN 8 30596834 30596834 single base substitution G C intron_variant COCA-CN 8 30596834 30596834 single base substitution G C upstream_gene_variant COCA-CN 8 30608873 30608873 single base substitution A C intron_variant COCA-CN 8 30608873 30608873 single base substitution A C upstream_gene_variant COCA-CN 8 30609038 30609038 single base substitution A C downstream_gene_variant COCA-CN 8 30609038 30609038 single base substitution A C intron_variant COCA-CN 8 30609038 30609038 single base substitution A C splice_region_variant COCA-CN 8 30609038 30609038 single base substitution A C upstream_gene_variant COCA-CN 8 30609078 30609078 single base substitution A T downstream_gene_variant COCA-CN 8 30609078 30609078 single base substitution A T intron_variant COCA-CN 8 30609078 30609078 single base substitution A T upstream_gene_variant COCA-CN 8 30610657 30610657 single base substitution G T downstream_gene_variant COCA-CN 8 30610657 30610657 single base substitution G T intron_variant COCA-CN 8 30610657 30610657 single base substitution G T upstream_gene_variant COCA-CN 8 30614006 30614006 single base substitution C G downstream_gene_variant COCA-CN 8 30614006 30614006 single base substitution C G intron_variant COCA-CN 8 30614257 30614257 single base substitution G A intron_variant COCA-CN 8 30616417 30616417 single base substitution T G intron_variant COCA-CN 8 30616417 30616417 single base substitution T G upstream_gene_variant COCA-CN 8 30620739 30620739 single base substitution A C exon_variant COCA-CN 8 30620739 30620739 single base substitution A C intron_variant COCA-CN 8 30623049 30623049 single base substitution T C downstream_gene_variant COCA-CN 8 30623049 30623049 single base substitution T C intron_variant COCA-CN 8 30623064 30623064 single base substitution G A downstream_gene_variant COCA-CN 8 30623064 30623064 single base substitution G A intron_variant COCA-CN 8 30624289 30624289 single base substitution A T downstream_gene_variant COCA-CN 8 30624289 30624289 single base substitution A T exon_variant COCA-CN 8 30627220 30627220 single base substitution C T downstream_gene_variant ESAD-UK 8 30585447 30585447 single base substitution G T upstream_gene_variant ESAD-UK 8 30587975 30587975 single base substitution C T upstream_gene_variant ESAD-UK 8 30588184 30588184 single base substitution A C upstream_gene_variant ESAD-UK 8 30588964 30588964 single base substitution T G upstream_gene_variant ESAD-UK 8 30589786 30589786 single base substitution C T exon_variant ESAD-UK 8 30589786 30589786 single base substitution C T upstream_gene_variant ESAD-UK 8 30592851 30592851 single base substitution G C intron_variant ESAD-UK 8 30593715 30593715 single base substitution A C intron_variant ESAD-UK 8 30595785 30595785 single base substitution C T intron_variant ESAD-UK 8 30595917 30595917 single base substitution C T intron_variant ESAD-UK 8 30601705 30601705 single base substitution C G exon_variant ESAD-UK 8 30601705 30601705 single base substitution C G intron_variant ESAD-UK 8 30601705 30601705 single base substitution C G upstream_gene_variant ESAD-UK 8 30605017 30605017 single base substitution G A intron_variant ESAD-UK 8 30605017 30605017 single base substitution G A upstream_gene_variant ESAD-UK 8 30605824 30605824 insertion of <=200bp - A intron_variant ESAD-UK 8 30605824 30605824 insertion of <=200bp - A upstream_gene_variant ESAD-UK 8 30607324 30607324 single base substitution G A intron_variant ESAD-UK 8 30607324 30607324 single base substitution G A upstream_gene_variant ESAD-UK 8 30607759 30607759 single base substitution C T intron_variant ESAD-UK 8 30607759 30607759 single base substitution C T upstream_gene_variant ESAD-UK 8 30611354 30611354 single base substitution A G downstream_gene_variant ESAD-UK 8 30611354 30611354 single base substitution A G intron_variant ESAD-UK 8 30611354 30611354 single base substitution A G upstream_gene_variant ESAD-UK 8 30612751 30612751 single base substitution C A downstream_gene_variant ESAD-UK 8 30612751 30612751 single base substitution C A intron_variant ESAD-UK 8 30612751 30612751 single base substitution C A upstream_gene_variant ESAD-UK 8 30614930 30614930 single base substitution G A intron_variant ESAD-UK 8 30615070 30615070 single base substitution A C intron_variant ESAD-UK 8 30619246 30619246 deletion of <=200bp A - intron_variant ESAD-UK 8 30619246 30619246 deletion of <=200bp A - upstream_gene_variant ESAD-UK 8 30620680 30620680 single base substitution A C exon_variant ESAD-UK 8 30620680 30620680 single base substitution A C intron_variant ESAD-UK 8 30621227 30621227 single base substitution C T downstream_gene_variant ESAD-UK 8 30621227 30621227 single base substitution C T intron_variant ESAD-UK 8 30625838 30625838 single base substitution G T downstream_gene_variant ESAD-UK 8 30626648 30626648 single base substitution C T downstream_gene_variant ESAD-UK 8 30626739 30626739 deletion of <=200bp T - downstream_gene_variant ESAD-UK 8 30627496 30627496 single base substitution C T downstream_gene_variant GBM-US 8 30609013 30609013 single base substitution A C exon_variant GBM-US 8 30609013 30609013 single base substitution A C intron_variant GBM-US 8 30609013 30609013 single base substitution A C upstream_gene_variant LAML-KR 8 30613560 30613560 single base substitution G T downstream_gene_variant LAML-KR 8 30613560 30613560 single base substitution G T intron_variant LAML-KR 8 30613560 30613560 single base substitution G T upstream_gene_variant LAML-KR 8 30614162 30614162 single base substitution G T intron_variant LAML-KR 8 30624292 30624292 single base substitution C T downstream_gene_variant LAML-KR 8 30624292 30624292 single base substitution C T exon_variant LAML-KR 8 30625093 30625093 single base substitution T C downstream_gene_variant LICA-FR 8 30585293 30585293 single base substitution C A upstream_gene_variant LICA-FR 8 30590611 30590611 single base substitution T C exon_variant LICA-FR 8 30590611 30590611 single base substitution T C intron_variant LICA-FR 8 30590627 30590627 single base substitution C T exon_variant LICA-FR 8 30590627 30590627 single base substitution C T intron_variant LICA-FR 8 30590805 30590805 single base substitution G A exon_variant LICA-FR 8 30590805 30590805 single base substitution G A intron_variant LICA-FR 8 30590855 30590855 single base substitution T C intron_variant LICA-FR 8 30598971 30598971 single base substitution C T intron_variant LICA-FR 8 30598971 30598971 single base substitution C T upstream_gene_variant LICA-FR 8 30613278 30613278 insertion of <=200bp - A downstream_gene_variant LICA-FR 8 30613278 30613278 insertion of <=200bp - A intron_variant LICA-FR 8 30613278 30613278 insertion of <=200bp - A upstream_gene_variant LICA-FR 8 30615179 30615179 single base substitution C T intron_variant LINC-JP 8 30596846 30596846 single base substitution T G intron_variant LINC-JP 8 30596846 30596846 single base substitution T G upstream_gene_variant LINC-JP 8 30600408 30600408 deletion of <=200bp T - intron_variant LINC-JP 8 30600408 30600408 deletion of <=200bp T - upstream_gene_variant LINC-JP 8 30602361 30602361 single base substitution A C intron_variant LINC-JP 8 30605947 30605947 single base substitution A T intron_variant LINC-JP 8 30605947 30605947 single base substitution A T upstream_gene_variant LINC-JP 8 30620404 30620404 single base substitution T A intron_variant LINC-JP 8 30620404 30620404 single base substitution T A upstream_gene_variant LIRI-JP 8 30589032 30589032 single base substitution T C upstream_gene_variant LIRI-JP 8 30589042 30589042 single base substitution A G upstream_gene_variant LIRI-JP 8 30589378 30589378 single base substitution C T upstream_gene_variant LIRI-JP 8 30596256 30596256 single base substitution T C intron_variant LIRI-JP 8 30603695 30603695 single base substitution T A intron_variant LIRI-JP 8 30610364 30610364 single base substitution T G downstream_gene_variant LIRI-JP 8 30610364 30610364 single base substitution T G intron_variant LIRI-JP 8 30610364 30610364 single base substitution T G upstream_gene_variant LIRI-JP 8 30610751 30610751 single base substitution C T downstream_gene_variant LIRI-JP 8 30610751 30610751 single base substitution C T intron_variant LIRI-JP 8 30610751 30610751 single base substitution C T upstream_gene_variant LIRI-JP 8 30613086 30613086 single base substitution A G downstream_gene_variant LIRI-JP 8 30613086 30613086 single base substitution A G intron_variant LIRI-JP 8 30613086 30613086 single base substitution A G upstream_gene_variant LIRI-JP 8 30613439 30613439 single base substitution A G downstream_gene_variant LIRI-JP 8 30613439 30613439 single base substitution A G intron_variant LIRI-JP 8 30613439 30613439 single base substitution A G upstream_gene_variant LIRI-JP 8 30623625 30623645 deletion of <=200bp TCATTACTCCTAGGGATATGA - downstream_gene_variant LIRI-JP 8 30623625 30623645 deletion of <=200bp TCATTACTCCTAGGGATATGA - intron_variant LIRI-JP 8 30624079 30624079 single base substitution A T downstream_gene_variant LIRI-JP 8 30624079 30624079 single base substitution A T exon_variant LUSC-KR 8 30595664 30595664 single base substitution T A intron_variant LUSC-KR 8 30601805 30601805 single base substitution C T exon_variant LUSC-KR 8 30601805 30601805 single base substitution C T intron_variant LUSC-KR 8 30609061 30609061 single base substitution T G downstream_gene_variant LUSC-KR 8 30609061 30609061 single base substitution T G intron_variant LUSC-KR 8 30609061 30609061 single base substitution T G upstream_gene_variant LUSC-KR 8 30609078 30609078 single base substitution A T downstream_gene_variant LUSC-KR 8 30609078 30609078 single base substitution A T intron_variant LUSC-KR 8 30609078 30609078 single base substitution A T upstream_gene_variant LUSC-KR 8 30609442 30609442 single base substitution C G downstream_gene_variant LUSC-KR 8 30609442 30609442 single base substitution C G intron_variant LUSC-KR 8 30609442 30609442 single base substitution C G upstream_gene_variant LUSC-KR 8 30611308 30611308 single base substitution G T downstream_gene_variant LUSC-KR 8 30611308 30611308 single base substitution G T intron_variant LUSC-KR 8 30611308 30611308 single base substitution G T upstream_gene_variant LUSC-KR 8 30617011 30617011 single base substitution G A intron_variant LUSC-KR 8 30617011 30617011 single base substitution G A upstream_gene_variant LUSC-KR 8 30619596 30619596 single base substitution A T intron_variant LUSC-KR 8 30619596 30619596 single base substitution A T upstream_gene_variant LUSC-KR 8 30624001 30624001 single base substitution C T downstream_gene_variant LUSC-KR 8 30624001 30624001 single base substitution C T exon_variant LUSC-KR 8 30629214 30629214 single base substitution C T downstream_gene_variant LUSC-US 8 30623785 30623785 single base substitution C A downstream_gene_variant LUSC-US 8 30623785 30623785 single base substitution C A exon_variant LUSC-US 8 30623805 30623805 single base substitution C A downstream_gene_variant LUSC-US 8 30623805 30623805 single base substitution C A exon_variant MALY-DE 8 30594256 30594256 single base substitution T G intron_variant MALY-DE 8 30595439 30595439 single base substitution T C intron_variant MALY-DE 8 30600408 30600408 deletion of <=200bp T - intron_variant MALY-DE 8 30600408 30600408 deletion of <=200bp T - upstream_gene_variant MALY-DE 8 30600988 30600988 single base substitution A G intron_variant MALY-DE 8 30600988 30600988 single base substitution A G upstream_gene_variant MALY-DE 8 30605057 30605057 single base substitution A T intron_variant MALY-DE 8 30605057 30605057 single base substitution A T upstream_gene_variant MALY-DE 8 30607247 30607247 single base substitution C G intron_variant MALY-DE 8 30607247 30607247 single base substitution C G upstream_gene_variant MALY-DE 8 30617212 30617212 single base substitution G A intron_variant MALY-DE 8 30617212 30617212 single base substitution G A upstream_gene_variant MALY-DE 8 30620759 30620759 single base substitution C T exon_variant MALY-DE 8 30620759 30620759 single base substitution C T intron_variant MALY-DE 8 30623049 30623049 single base substitution T C downstream_gene_variant MALY-DE 8 30623049 30623049 single base substitution T C intron_variant MALY-DE 8 30629006 30629006 deletion of <=200bp A - downstream_gene_variant MELA-AU 8 30586400 30586401 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 8 30587479 30587480 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30587695 30587695 single base substitution C T upstream_gene_variant MELA-AU 8 30587986 30587986 single base substitution C T upstream_gene_variant MELA-AU 8 30588268 30588268 single base substitution C T upstream_gene_variant MELA-AU 8 30589350 30589350 single base substitution A T upstream_gene_variant MELA-AU 8 30591087 30591087 single base substitution C T intron_variant MELA-AU 8 30591652 30591652 single base substitution G A intron_variant MELA-AU 8 30591783 30591783 single base substitution G A intron_variant MELA-AU 8 30591932 30591932 single base substitution C T intron_variant MELA-AU 8 30593043 30593043 single base substitution C T intron_variant MELA-AU 8 30593501 30593501 single base substitution G A intron_variant MELA-AU 8 30593575 30593575 single base substitution A T intron_variant MELA-AU 8 30595268 30595268 single base substitution G A intron_variant MELA-AU 8 30595816 30595816 single base substitution T G intron_variant MELA-AU 8 30596396 30596396 single base substitution C T intron_variant MELA-AU 8 30596623 30596623 single base substitution T C intron_variant MELA-AU 8 30597036 30597037 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 30597036 30597037 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 30597048 30597048 single base substitution G A intron_variant MELA-AU 8 30597048 30597048 single base substitution G A upstream_gene_variant MELA-AU 8 30597766 30597766 single base substitution C T intron_variant MELA-AU 8 30597766 30597766 single base substitution C T upstream_gene_variant MELA-AU 8 30597769 30597770 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 8 30597769 30597770 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 8 30598667 30598667 single base substitution C T intron_variant MELA-AU 8 30598667 30598667 single base substitution C T upstream_gene_variant MELA-AU 8 30599165 30599165 single base substitution C T intron_variant MELA-AU 8 30599165 30599165 single base substitution C T upstream_gene_variant MELA-AU 8 30601644 30601645 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30601644 30601645 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30601651 30601651 single base substitution G A intron_variant MELA-AU 8 30601651 30601651 single base substitution G A upstream_gene_variant MELA-AU 8 30601652 30601652 single base substitution G A intron_variant MELA-AU 8 30601652 30601652 single base substitution G A upstream_gene_variant MELA-AU 8 30601668 30601668 single base substitution G A intron_variant MELA-AU 8 30601668 30601668 single base substitution G A upstream_gene_variant MELA-AU 8 30601668 30601669 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 8 30601668 30601669 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 8 30601669 30601669 single base substitution G A intron_variant MELA-AU 8 30601669 30601669 single base substitution G A upstream_gene_variant MELA-AU 8 30601676 30601676 single base substitution C A intron_variant MELA-AU 8 30601676 30601676 single base substitution C A upstream_gene_variant MELA-AU 8 30601676 30601676 single base substitution C T intron_variant MELA-AU 8 30601676 30601676 single base substitution C T upstream_gene_variant MELA-AU 8 30604546 30604547 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30604546 30604547 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30605053 30605053 single base substitution C T intron_variant MELA-AU 8 30605053 30605053 single base substitution C T upstream_gene_variant MELA-AU 8 30606306 30606306 single base substitution C T intron_variant MELA-AU 8 30606306 30606306 single base substitution C T upstream_gene_variant MELA-AU 8 30607753 30607753 single base substitution C T intron_variant MELA-AU 8 30607753 30607753 single base substitution C T upstream_gene_variant MELA-AU 8 30608173 30608174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30608173 30608174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30608183 30608183 single base substitution G C intron_variant MELA-AU 8 30608183 30608183 single base substitution G C upstream_gene_variant MELA-AU 8 30608803 30608803 single base substitution G A intron_variant MELA-AU 8 30608803 30608803 single base substitution G A upstream_gene_variant MELA-AU 8 30610169 30610170 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 30610169 30610170 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30610169 30610170 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30610359 30610359 single base substitution T C downstream_gene_variant MELA-AU 8 30610359 30610359 single base substitution T C intron_variant MELA-AU 8 30610359 30610359 single base substitution T C upstream_gene_variant MELA-AU 8 30610864 30610864 single base substitution C T downstream_gene_variant MELA-AU 8 30610864 30610864 single base substitution C T intron_variant MELA-AU 8 30610864 30610864 single base substitution C T upstream_gene_variant MELA-AU 8 30611369 30611369 single base substitution C T downstream_gene_variant MELA-AU 8 30611369 30611369 single base substitution C T intron_variant MELA-AU 8 30611369 30611369 single base substitution C T upstream_gene_variant MELA-AU 8 30611530 30611530 single base substitution G A downstream_gene_variant MELA-AU 8 30611530 30611530 single base substitution G A intron_variant MELA-AU 8 30611530 30611530 single base substitution G A upstream_gene_variant MELA-AU 8 30611853 30611853 single base substitution C T downstream_gene_variant MELA-AU 8 30611853 30611853 single base substitution C T intron_variant MELA-AU 8 30611853 30611853 single base substitution C T upstream_gene_variant MELA-AU 8 30612337 30612337 single base substitution C T downstream_gene_variant MELA-AU 8 30612337 30612337 single base substitution C T intron_variant MELA-AU 8 30612337 30612337 single base substitution C T upstream_gene_variant MELA-AU 8 30612784 30612784 single base substitution T G downstream_gene_variant MELA-AU 8 30612784 30612784 single base substitution T G intron_variant MELA-AU 8 30612784 30612784 single base substitution T G upstream_gene_variant MELA-AU 8 30615142 30615143 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30615712 30615712 single base substitution C T intron_variant MELA-AU 8 30615712 30615712 single base substitution C T upstream_gene_variant MELA-AU 8 30615882 30615882 single base substitution G A intron_variant MELA-AU 8 30615882 30615882 single base substitution G A upstream_gene_variant MELA-AU 8 30617832 30617833 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 8 30617832 30617833 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 8 30619353 30619353 single base substitution G A intron_variant MELA-AU 8 30619353 30619353 single base substitution G A upstream_gene_variant MELA-AU 8 30620657 30620657 single base substitution T C intron_variant MELA-AU 8 30620657 30620657 single base substitution T C upstream_gene_variant MELA-AU 8 30623064 30623064 single base substitution G A downstream_gene_variant MELA-AU 8 30623064 30623064 single base substitution G A intron_variant MELA-AU 8 30623074 30623074 single base substitution A G downstream_gene_variant MELA-AU 8 30623074 30623074 single base substitution A G intron_variant MELA-AU 8 30623154 30623154 single base substitution C T downstream_gene_variant MELA-AU 8 30623154 30623154 single base substitution C T intron_variant MELA-AU 8 30624359 30624359 single base substitution G A downstream_gene_variant MELA-AU 8 30624359 30624359 single base substitution G A exon_variant MELA-AU 8 30624416 30624416 single base substitution C T downstream_gene_variant MELA-AU 8 30624416 30624416 single base substitution C T exon_variant MELA-AU 8 30624953 30624953 single base substitution G A downstream_gene_variant MELA-AU 8 30626210 30626211 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 8 30627298 30627298 single base substitution G A downstream_gene_variant MELA-AU 8 30627926 30627926 single base substitution G A downstream_gene_variant MELA-AU 8 30628596 30628596 single base substitution G A downstream_gene_variant MELA-AU 8 30628640 30628640 single base substitution G A downstream_gene_variant MELA-AU 8 30628656 30628656 single base substitution T G downstream_gene_variant MELA-AU 8 30629180 30629180 single base substitution G A downstream_gene_variant MELA-AU 8 30629285 30629285 single base substitution G A downstream_gene_variant ORCA-IN 8 30590385 30590385 single base substitution G C exon_variant ORCA-IN 8 30590385 30590385 single base substitution G C intron_variant ORCA-IN 8 30598993 30598993 single base substitution A T intron_variant ORCA-IN 8 30598993 30598993 single base substitution A T upstream_gene_variant OV-AU 8 30589560 30589560 single base substitution A C upstream_gene_variant OV-AU 8 30590986 30590986 single base substitution C T intron_variant OV-AU 8 30600101 30600101 single base substitution T C intron_variant OV-AU 8 30600101 30600101 single base substitution T C upstream_gene_variant OV-AU 8 30600713 30600713 single base substitution G A intron_variant OV-AU 8 30600713 30600713 single base substitution G A upstream_gene_variant OV-AU 8 30604981 30604981 single base substitution C G intron_variant OV-AU 8 30604981 30604981 single base substitution C G upstream_gene_variant OV-AU 8 30606604 30606604 single base substitution G T intron_variant OV-AU 8 30606604 30606604 single base substitution G T upstream_gene_variant PACA-AU 8 30589361 30589361 single base substitution T G upstream_gene_variant PACA-AU 8 30592431 30592431 single base substitution G C intron_variant PACA-AU 8 30600302 30600324 deletion of <=200bp TTTTGCAAGCCTTCTGGGTATGG - intron_variant PACA-AU 8 30600302 30600324 deletion of <=200bp TTTTGCAAGCCTTCTGGGTATGG - upstream_gene_variant PACA-AU 8 30607335 30607335 single base substitution G A intron_variant PACA-AU 8 30607335 30607335 single base substitution G A upstream_gene_variant PACA-AU 8 30609659 30609659 single base substitution G A downstream_gene_variant PACA-AU 8 30609659 30609659 single base substitution G A intron_variant PACA-AU 8 30609659 30609659 single base substitution G A upstream_gene_variant PACA-AU 8 30617966 30617966 single base substitution T A intron_variant PACA-AU 8 30617966 30617966 single base substitution T A upstream_gene_variant PACA-AU 8 30621376 30621376 single base substitution G A downstream_gene_variant PACA-AU 8 30621376 30621376 single base substitution G A intron_variant PACA-AU 8 30626657 30626657 single base substitution A C downstream_gene_variant PACA-AU 8 30628002 30628002 single base substitution A T downstream_gene_variant PACA-CA 8 30586715 30586715 single base substitution C T upstream_gene_variant PACA-CA 8 30589305 30589305 single base substitution G T upstream_gene_variant PACA-CA 8 30595405 30595405 single base substitution T G intron_variant PACA-CA 8 30603657 30603657 single base substitution C A intron_variant PACA-CA 8 30609753 30609753 single base substitution C A downstream_gene_variant PACA-CA 8 30609753 30609753 single base substitution C A intron_variant PACA-CA 8 30609753 30609753 single base substitution C A upstream_gene_variant PACA-CA 8 30613815 30613815 single base substitution G A downstream_gene_variant PACA-CA 8 30613815 30613815 single base substitution G A intron_variant PACA-CA 8 30619757 30619757 single base substitution T A intron_variant PACA-CA 8 30619757 30619757 single base substitution T A upstream_gene_variant PACA-CA 8 30623226 30623226 single base substitution C T downstream_gene_variant PACA-CA 8 30623226 30623226 single base substitution C T intron_variant PACA-CA 8 30623768 30623768 single base substitution T G downstream_gene_variant PACA-CA 8 30623768 30623768 single base substitution T G exon_variant PACA-CA 8 30624552 30624552 single base substitution G C downstream_gene_variant PACA-CA 8 30624783 30624783 single base substitution G A downstream_gene_variant PACA-CA 8 30624830 30624830 single base substitution C T downstream_gene_variant PACA-CA 8 30625970 30625970 single base substitution C T downstream_gene_variant PACA-CA 8 30626738 30626738 insertion of <=200bp - T downstream_gene_variant PACA-CA 8 30629352 30629352 single base substitution C T downstream_gene_variant PAEN-AU 8 30595237 30595237 single base substitution C T intron_variant PAEN-AU 8 30629014 30629014 single base substitution T A downstream_gene_variant PAEN-IT 8 30589467 30589467 single base substitution C A upstream_gene_variant PAEN-IT 8 30596036 30596036 single base substitution G A intron_variant PBCA-DE 8 30591788 30591788 single base substitution G C intron_variant PBCA-DE 8 30594941 30594941 single base substitution C T intron_variant PBCA-DE 8 30598058 30598058 insertion of <=200bp - A intron_variant PBCA-DE 8 30598058 30598058 insertion of <=200bp - A upstream_gene_variant PBCA-DE 8 30598176 30598176 insertion of <=200bp - AG intron_variant PBCA-DE 8 30598176 30598176 insertion of <=200bp - AG upstream_gene_variant PBCA-DE 8 30606927 30606927 single base substitution T A intron_variant PBCA-DE 8 30606927 30606927 single base substitution T A upstream_gene_variant PBCA-DE 8 30609039 30609039 single base substitution A C downstream_gene_variant PBCA-DE 8 30609039 30609039 single base substitution A C intron_variant PBCA-DE 8 30609039 30609039 single base substitution A C splice_region_variant PBCA-DE 8 30609039 30609039 single base substitution A C upstream_gene_variant PBCA-DE 8 30611603 30611603 insertion of <=200bp - A downstream_gene_variant PBCA-DE 8 30611603 30611603 insertion of <=200bp - A intron_variant PBCA-DE 8 30611603 30611603 insertion of <=200bp - A upstream_gene_variant PBCA-DE 8 30619486 30619486 single base substitution C T intron_variant PBCA-DE 8 30619486 30619486 single base substitution C T upstream_gene_variant PBCA-DE 8 30623830 30623830 single base substitution G C downstream_gene_variant PBCA-DE 8 30623830 30623830 single base substitution G C exon_variant PRAD-CA 8 30600149 30600149 single base substitution G A intron_variant PRAD-CA 8 30600149 30600149 single base substitution G A upstream_gene_variant PRAD-UK 8 30586965 30586965 single base substitution G C upstream_gene_variant PRAD-UK 8 30591340 30591340 single base substitution A G intron_variant PRAD-UK 8 30624511 30624511 single base substitution G A downstream_gene_variant PRAD-UK 8 30624511 30624511 single base substitution G A exon_variant RECA-EU 8 30598585 30598585 single base substitution A T intron_variant RECA-EU 8 30598585 30598585 single base substitution A T upstream_gene_variant RECA-EU 8 30602451 30602451 single base substitution T C intron_variant RECA-EU 8 30606507 30606507 single base substitution C T intron_variant RECA-EU 8 30606507 30606507 single base substitution C T upstream_gene_variant RECA-EU 8 30623556 30623556 single base substitution C A downstream_gene_variant RECA-EU 8 30623556 30623556 single base substitution C A intron_variant SKCA-BR 8 30585234 30585234 single base substitution A G upstream_gene_variant SKCA-BR 8 30585543 30585543 single base substitution T G upstream_gene_variant SKCA-BR 8 30590457 30590457 single base substitution T C exon_variant SKCA-BR 8 30590457 30590457 single base substitution T C intron_variant SKCA-BR 8 30594691 30594691 single base substitution C G intron_variant SKCA-BR 8 30595413 30595413 single base substitution G A intron_variant SKCA-BR 8 30596364 30596364 single base substitution A T intron_variant SKCA-BR 8 30598334 30598334 single base substitution C T intron_variant SKCA-BR 8 30598334 30598334 single base substitution C T upstream_gene_variant SKCA-BR 8 30601379 30601379 single base substitution C G intron_variant SKCA-BR 8 30601379 30601379 single base substitution C G upstream_gene_variant SKCA-BR 8 30604031 30604031 single base substitution G A intron_variant SKCA-BR 8 30604031 30604031 single base substitution G A upstream_gene_variant SKCA-BR 8 30604824 30604824 insertion of <=200bp - GT intron_variant SKCA-BR 8 30604824 30604824 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 8 30605411 30605411 single base substitution C T intron_variant SKCA-BR 8 30605411 30605411 single base substitution C T upstream_gene_variant SKCA-BR 8 30606918 30606918 insertion of <=200bp - AAAAAT intron_variant SKCA-BR 8 30606918 30606918 insertion of <=200bp - AAAAAT upstream_gene_variant SKCA-BR 8 30606927 30606927 insertion of <=200bp - TA intron_variant SKCA-BR 8 30606927 30606927 insertion of <=200bp - TA upstream_gene_variant SKCA-BR 8 30606990 30606990 single base substitution C T intron_variant SKCA-BR 8 30606990 30606990 single base substitution C T upstream_gene_variant SKCA-BR 8 30607117 30607117 single base substitution C T intron_variant SKCA-BR 8 30607117 30607117 single base substitution C T upstream_gene_variant SKCA-BR 8 30608067 30608067 single base substitution A G intron_variant SKCA-BR 8 30608067 30608067 single base substitution A G upstream_gene_variant SKCA-BR 8 30612767 30612767 single base substitution C T downstream_gene_variant SKCA-BR 8 30612767 30612767 single base substitution C T intron_variant SKCA-BR 8 30612767 30612767 single base substitution C T upstream_gene_variant SKCA-BR 8 30617485 30617490 deletion of <=200bp TAAATA - intron_variant SKCA-BR 8 30617485 30617490 deletion of <=200bp TAAATA - upstream_gene_variant SKCA-BR 8 30617960 30617960 insertion of <=200bp - ATAT intron_variant SKCA-BR 8 30617960 30617960 insertion of <=200bp - ATAT upstream_gene_variant SKCA-BR 8 30617962 30617962 single base substitution T A intron_variant SKCA-BR 8 30617962 30617962 single base substitution T A upstream_gene_variant SKCA-BR 8 30619578 30619578 insertion of <=200bp - CT intron_variant SKCA-BR 8 30619578 30619578 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 8 30621748 30621748 single base substitution C T downstream_gene_variant SKCA-BR 8 30621748 30621748 single base substitution C T intron_variant SKCA-BR 8 30625977 30625977 single base substitution C T downstream_gene_variant SKCA-BR 8 30626092 30626092 insertion of <=200bp - CA downstream_gene_variant SKCA-BR 8 30626888 30626888 single base substitution G A downstream_gene_variant SKCM-US 8 30601740 30601740 single base substitution C T exon_variant SKCM-US 8 30601740 30601740 single base substitution C T intron_variant SKCM-US 8 30601792 30601792 single base substitution T A exon_variant SKCM-US 8 30601792 30601792 single base substitution T A intron_variant SKCM-US 8 30601792 30601792 single base substitution T A splice_region_variant SKCM-US 8 30623851 30623851 single base substitution G A downstream_gene_variant SKCM-US 8 30623851 30623851 single base substitution G A exon_variant STAD-US 8 30620808 30620808 single base substitution C T exon_variant STAD-US 8 30623750 30623750 single base substitution T G downstream_gene_variant STAD-US 8 30623750 30623750 single base substitution T G exon_variant STAD-US 8 30623815 30623815 single base substitution C T downstream_gene_variant STAD-US 8 30623815 30623815 single base substitution C T exon_variant UCEC-US 8 30608998 30608998 single base substitution G A exon_variant UCEC-US 8 30608998 30608998 single base substitution G A intron_variant UCEC-US 8 30608998 30608998 single base substitution G A upstream_gene_variant UCEC-US 8 30612249 30612249 single base substitution G A downstream_gene_variant UCEC-US 8 30612249 30612249 single base substitution G A exon_variant UCEC-US 8 30612249 30612249 single base substitution G A intron_variant UCEC-US 8 30612249 30612249 single base substitution G A upstream_gene_variant UCEC-US 8 30614366 30614366 single base substitution G T exon_variant UCEC-US 8 30623765 30623765 single base substitution G A downstream_gene_variant UCEC-US 8 30623765 30623765 single base substitution G A exon_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand MD-286 COSM303511 c.215delA p.E73fs*11 Deletion - Frameshift 8:30753038-30753038 + 587226 COSM1231645 c.116G>A p.G39D Substitution - Missense 8:30751423-30751423 + LN18 COSM2958278 c.483delT p.L162fs*1 Deletion - Frameshift 8:30756842-30756842 + WSU-HN30 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + UM-SCC-2 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + WSU-HN6 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + UM-SCC-11B COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + T98G COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + 304_T COSM3951588 c.443C>G p.S148* Substitution - Nonsense 8:30756802-30756802 + TCGA-BH-A18V-01 COSM454443 c.488C>G p.T163S Substitution - Missense 8:30756847-30756847 + TCGA-CG-5726-01 COSM3899571 c.589C>T p.R197* Substitution - Nonsense 8:30763291-30763291 + BICR_22 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + WSU-HN13 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + UM-SCC-4 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + ICGC_MB94 COSM3765403 c.211+4A>C p.? Unknown 8:30751522-30751522 + UPCI:SCC090 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + LN229 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-39-5028-01 COSM750683 c.705C>A p.S235S Substitution - coding silent 8:30766289-30766289 + 9086_T COSM5039314 c.88+1G>A p.? Unknown 8:30744278-30744278 + U87 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + PT25 COSM5943623 c.81delG p.D28fs*2 Deletion - Frameshift 8:30744270-30744270 + TCGA-AX-A0J0-01 COSM1099127 c.350G>A p.R117H Substitution - Missense 8:30754732-30754732 + 201 COSM3724071 c.5C>G p.A2G Substitution - Missense 8:30744194-30744194 + TCGA-IH-A3EA-01 COSM3648243 c.86T>A p.I29K Substitution - Missense 8:30744275-30744275 + TCGA-A8-A09Z-01 COSM3834575 c.476C>A p.P159H Substitution - Missense 8:30756835-30756835 + TCGA-D1-A103-01 COSM1099126 c.174G>A p.W58* Substitution - Nonsense 8:30751481-30751481 + PCSI_0250_Pa_P_526 COSM4963082 c.668T>G p.I223S Substitution - Missense 8:30766252-30766252 + TCGA-BS-A0UF-01 COSM1099129 c.665G>A p.R222K Substitution - Missense 8:30766249-30766249 + TARGET-30-PARVFJ COSM1288807 c.212-2_212delAGA p.? Unknown 8:30753033-30753035 + NOKSI COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + ESCC_11 COSM5650141 c.444A>G p.S148S Substitution - coding silent 8:30756803-30756803 + SCC-25 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + SW48 COSM2958283 c.772A>G p.T258A Substitution - Missense 8:30766356-30766356 + SCC-9 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + CAL27 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + 93VU147T COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + U373 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-BS-A0UV-01 COSM1099128 c.490G>T p.E164* Substitution - Nonsense 8:30756849-30756849 + STC252 COSM5063154 c.662C>T p.T221M Substitution - Missense 8:30766246-30766246 + TCGA-76-4927-01 COSM3412973 c.189A>C p.K63N Substitution - Missense 8:30751496-30751496 + WSU-HN12 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-22-5472-01 COSM750684 c.685C>A p.L229I Substitution - Missense 8:30766269-30766269 + UM-SCC-17B COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + U343 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-HU-A4GP-01 COSM3899573 c.715C>T p.R239W Substitution - Missense 8:30766299-30766299 + TCGA-EE-A29R-06 COSM3648242 c.34C>T p.L12F Substitution - Missense 8:30744223-30744223 + PT45 COSM5927533 c.482C>T p.P161L Substitution - Missense 8:30756841-30756841 + UM-SCC-47 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + CAL33 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + ORL-48 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + SCC-15 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + LN18 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-HU-A4GH-01 COSM3899572 c.650T>G p.F217C Substitution - Missense 8:30766234-30766234 + BHY COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-GC-A3I6-01 COSM1313989 c.633C>T p.Y211Y Substitution - coding silent 8:30763338-30763338 + WSU-HN8 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + UD-SCC-2 COSM4603367 c.621_622insT p.K209fs*1 Insertion - Frameshift 8:30763323-30763324 + TCGA-ER-A19F-06 COSM3648244 c.751G>A p.D251N Substitution - Missense 8:30766335-30766335 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.153652;Hs.153661;Hs.153678 8p12-p11.2 602155